# annotation

uniprotID: Q6L8G4
geneSymbol: KRTAP5-11
reactome: R-HSA-6805567;
length: 156
go: ENSG00000204571;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 5-11 (Keratin-associated protein 5.11) (Ultrahigh sulfur keratin-associated protein 5.11)

sequence:
MGCCGCSGGCGSGCGGCGSGSGGCGSGCGGCGSSCCVPICCCKPVCCCVPACSCSSCGSCGGSKGGCGSCGSSKGGCGSCGCSQSNCCKPCCSSSGCGSFCCQSSCSKPCCCQSSCCQSSCCKPCCCQSSCCQSSCFKPCCCQSSCCVPVCCQCKI


uniprotID: P42166
geneSymbol: TMPO
pdb: 1GJJ;1H9E;1H9F;
length: 694
go: ENSG00000120802;
snps: rs35998138 rs35645287 rs35969221 rs11838270 rs35761089 rs17459334 rs17028450
location: SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Expressed diffusely throughout the nucleus.
name:
Lamina-associated polypeptide 2, isoform alpha (Thymopoietin isoform alpha) (TP alpha) (Thymopoietin-related peptide isoform alpha) (TPRP isoform alpha) [Cleaved into: Thymopoietin (TP) (Splenin); Thymopentin (TP5)]

sequence:

opentargets:
chromatin [GO:0000785]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; DNA binding [GO:0003677]; lamin binding [GO:0005521]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=Alpha; IsoId=P42166-1; Sequence=Displayed; Name=Beta; IsoId=P42167-1; Sequence=External; Name=Gamma; IsoId=P42167-2; Sequence=External; Name=Zeta; IsoId=P42167-3; Sequence=External; Note=Inhibits LAP2beta-mediated repression.; 


uniprotID: P57682
geneSymbol: KLF3
name: Krueppel-like factor 3 (Basic krueppel-like factor) (CACCC-box-binding protein BKLF) (TEF-2)
length: 345
go: ENSG00000109787;
snps: rs17616226
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cellular response to peptide [GO:1901653]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P57682-1; Sequence=Displayed; Name=2; IsoId=P57682-2; Sequence=VSP_014532; Note=May be due to intron retention. No experimental confirmation available.; 


uniprotID: Q9BYQ0
geneSymbol: KRTAP9-8
reactome: R-HSA-6805567;
length: 159
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 9-8 (Keratin-associated protein 9.8) (Ultrahigh sulfur keratin-associated protein 9.8)

sequence:
MTHCCSPCCQPTCCRTTCWKPTTVTTCSSTPCCQPSCCVSSCCQPCCRPTCCQNTCCQPICVTSCCQPSCCSTPCCQPTCCGQTSCGSSCGQSSSCAPVYCRRTCYHPTTVCLPGCLNQSCGSNCCQPCCRPACCETTCCRTTCFQPTCVSSCCQPSCC


uniprotID: P01594
geneSymbol: IGKV1-33
pdb: 1B0W;1JV5;1QP1;2Q20;3CDC;3CDF;3CDY;4K07;
name: Immunoglobulin kappa variable 1-33 (Ig kappa chain V-I region AU) (Ig kappa chain V-I region Ka)
length: 117
sequence:
MDMRVPAQLLGLLLLWLSGARCDIQMTQSPSSLSASVGDRVTITCQASQDISNYLNWYQQKPGKAPKLLIYDASNLETGVPSRFSGSGSGTDFTFTISSLQPEDIATYYCQQYDNLP

opentargets:
blood microparticle [GO:0072562]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; identical protein binding [GO:0042802]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: P06310
geneSymbol: IGKV2-30
name: Immunoglobulin kappa variable 2-30 (Ig kappa chain V-II region RPMI 6410)
length: 120
go: ENSG00000243238;
drug: DB00693;
sequence:
MRLPAQLLGLLMLWVPGSSGDVVMTQSPLSLPVTLGQPASISCRSSQSLVYSDGNTYLNWFQQRPGQSPRRLIYKVSNRDSGVPDRFSGSGSGTDFTLKISRVEAEDVGVYYCMQGTHWP

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: Q5JUW0
geneSymbol: KRBOX4
reactome: R-HSA-212436;
name: KRAB domain-containing protein 4 (KRAB box domain-containing protein 4)
length: 171
go: ENSG00000147121;
sequence:
MAMSQESLTFKDVFVDFTLEEWQQLDSAQKNLYRDVMLENYSHLVSVGYLVAKPDVIFRLGPGEESWMADGGTPVRTCAGEDRPEVWQVDEQIDHYKESQDKLPWQAAFIGKETLKDESGQESRTCRKSIYLSTEFDSVRQRLPKYYSWEKAFKTSFKLSWSKWKLCKKER

opentargets:
intracellular [GO:0005622]; nucleic acid binding [GO:0003676]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JUW0-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=Q5JUW0-2; Sequence=VSP_018163; Name=3; IsoId=Q5JUW0-3; Sequence=VSP_018164, VSP_018165; Note=No experimental confirmation available.; 


uniprotID: P10721
geneSymbol: KIT
reactome: R-HSA-1257604;R-HSA-1433557;R-HSA-1433559;R-HSA-2219530;R-HSA-5673001;R-HSA-6811558;R-HSA-8866910;
length: 976
go: ENSG00000157404;
pdb:
1PKG;1QZJ;1QZK;1R01;1T45;1T46;2E9W;2EC8;2IUH;2VIF;3G0E;3G0F;4HVS;4K94;4K9E;4PGZ;4U0I;6GQJ;6GQK;6GQL;6GQM;

name:
Mast/stem cell growth factor receptor Kit (SCFR) (EC 2.7.10.1) (Piebald trait protein) (PBT) (Proto-oncogene c-Kit) (Tyrosine-protein kinase Kit) (p145 c-kit) (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (CD antigen CD117)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; mast cell granule [GO:0042629]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; cytokine binding [GO:0019955]; metal ion binding [GO:0046872]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protease binding [GO:0002020]; protein homodimerization activity [GO:0042803]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; stem cell factor receptor activity [GO:0005020]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; actin cytoskeleton reorganization [GO:0031532]; activation of MAPK activity [GO:0000187]; cell chemotaxis [GO:0060326]; cell differentiation [GO:0030154]; cellular response to thyroid hormone stimulus [GO:0097067]; cytokine-mediated signaling pathway [GO:0019221]; dendritic cell cytokine production [GO:0002371]; detection of mechanical stimulus involved in sensory perception of sound [GO:0050910]; digestive tract development [GO:0048565]; ectopic germ cell programmed cell death [GO:0035234]; embryonic hemopoiesis [GO:0035162]; epithelial cell proliferation [GO:0050673]; erythrocyte differentiation [GO:0030218]; erythropoietin-mediated signaling pathway [GO:0038162]; Fc receptor signaling pathway [GO:0038093]; germ cell migration [GO:0008354]; glycosphingolipid metabolic process [GO:0006687]; hematopoietic stem cell migration [GO:0035701]; hemopoiesis [GO:0030097]; immature B cell differentiation [GO:0002327]; inflammatory response [GO:0006954]; Kit signaling pathway [GO:0038109]; lamellipodium assembly [GO:0030032]; lymphoid progenitor cell differentiation [GO:0002320]; male gonad development [GO:0008584]; MAPK cascade [GO:0000165]; mast cell chemotaxis [GO:0002551]; mast cell cytokine production [GO:0032762]; mast cell degranulation [GO:0043303]; mast cell differentiation [GO:0060374]; mast cell proliferation [GO:0070662]; megakaryocyte development [GO:0035855]; melanocyte adhesion [GO:0097326]; melanocyte differentiation [GO:0030318]; melanocyte migration [GO:0097324]; myeloid progenitor cell differentiation [GO:0002318]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; ovarian follicle development [GO:0001541]; peptidyl-tyrosine phosphorylation [GO:0018108]; pigmentation [GO:0043473]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of colon smooth muscle contraction [GO:1904343]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of long-term neuronal synaptic plasticity [GO:0048170]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of phospholipase C activity [GO:0010863]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of pseudopodium assembly [GO:0031274]; positive regulation of pyloric antrum smooth muscle contraction [GO:0120072]; positive regulation of small intestine smooth muscle contraction [GO:1904349]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; positive regulation of vascular smooth muscle cell differentiation [GO:1905065]; protein autophosphorylation [GO:0046777]; regulation of bile acid metabolic process [GO:1904251]; regulation of cell proliferation [GO:0042127]; regulation of cell shape [GO:0008360]; regulation of developmental pigmentation [GO:0048070]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cadmium ion [GO:0046686]; signal transduction [GO:0007165]; somatic stem cell division [GO:0048103]; somatic stem cell population maintenance [GO:0035019]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]; stem cell differentiation [GO:0048863]; stem cell population maintenance [GO:0019827]; T cell differentiation [GO:0030217]; tongue development [GO:0043586]; visual learning [GO:0008542]

drug:
DB06080;DB01254;DB00619;DB09078;DB05216;DB04868;DB05913;DB06589;DB01962;DB08901;DB08896;DB00398;DB01268;DB05153;DB05146;

snps:
rs55792975 rs3822214 rs3822214 rs121913517 rs121913517 rs121913680 rs28933371 rs794726671 rs121913679 rs35200131 rs56094246 rs751005114 rs121913684 rs145602440 rs121913506 rs121913507 rs121913506 rs121913682 rs121913514 rs1057519713 rs121913509 rs121913687 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=GNNK(+), KitA(+); IsoId=P10721-1; Sequence=Displayed; Name=2; Synonyms=GNNK(-), Kit(+); IsoId=P10721-2; Sequence=VSP_038385; Name=3; Synonyms=TR-KIT; IsoId=P10721-3; Sequence=VSP_041866, VSP_041867; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Note=Detected in the cytoplasm of spermatozoa, especially in the equatorial and subacrosomal region of the sperm head.


uniprotID: O43474
geneSymbol: KLF4
reactome: R-HSA-381340;R-HSA-422085;R-HSA-452723;
name: Krueppel-like factor 4 (Epithelial zinc finger protein EZF) (Gut-enriched krueppel-like factor)
length: 513
go: ENSG00000136826;
snps: rs1059913 rs1059914
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nuclear euchromatin [GO:0005719]; nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; beta-catenin binding [GO:0008013]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; phosphatidylinositol 3-kinase regulator activity [GO:0035014]; promoter-specific chromatin binding [GO:1990841]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity [GO:0001010]; RNA polymerase II transcription factor binding [GO:0001085]; transcription cofactor binding [GO:0001221]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; canonical Wnt signaling pathway [GO:0060070]; cellular response to cycloheximide [GO:0071409]; cellular response to growth factor stimulus [GO:0071363]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to laminar fluid shear stress [GO:0071499]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to peptide [GO:1901653]; cellular response to retinoic acid [GO:0071300]; epidermal cell differentiation [GO:0009913]; epidermis morphogenesis [GO:0048730]; fat cell differentiation [GO:0045444]; mesodermal cell fate determination [GO:0007500]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of cell proliferation [GO:0008285]; negative regulation of chemokine (C-X-C motif) ligand 2 production [GO:2000342]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of gene expression [GO:0010629]; negative regulation of heterotypic cell-cell adhesion [GO:0034115]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-8 biosynthetic process [GO:0045415]; negative regulation of leukocyte adhesion to arterial endothelial cell [GO:1904998]; negative regulation of muscle hyperplasia [GO:0014740]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of phosphatidylinositol 3-kinase signaling [GO:0014067]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of response to cytokine stimulus [GO:0060761]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of core promoter binding [GO:1904798]; positive regulation of gene expression [GO:0010628]; positive regulation of hemoglobin biosynthetic process [GO:0046985]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of protein metabolic process [GO:0051247]; positive regulation of sprouting angiogenesis [GO:1903672]; positive regulation of telomerase activity [GO:0051973]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; post-embryonic camera-type eye development [GO:0031077]; post-embryonic hemopoiesis [GO:0035166]; pri-miRNA transcription by RNA polymerase II [GO:0061614]; regulation of axon regeneration [GO:0048679]; regulation of cell differentiation [GO:0045595]; regulation of transcription by RNA polymerase II [GO:0006357]; somatic stem cell population maintenance [GO:0035019]; stem cell population maintenance [GO:0019827]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O43474-3; Sequence=Displayed; Name=2; IsoId=O43474-1; Sequence=VSP_036399; Name=3; IsoId=O43474-4; Sequence=VSP_040569, VSP_036399; Note=No experimental confirmation available.; Name=4; Synonyms=1a; IsoId=O43474-5; Sequence=VSP_047470, VSP_047473; Name=5; IsoId=O43474-6; Sequence=VSP_047471, VSP_047472; 


uniprotID: O76009
geneSymbol: KRT33A
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cuticular Ha3-I (Hair keratin, type I Ha3-I) (Keratin-33A) (K33A)
length: 404
go: ENSG00000006059;
snps: rs12937519
sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: O60309
geneSymbol: LRRC37A3
name: Leucine-rich repeat-containing protein 37A3
length: 1634
go: ENSG00000176809;
opentargets: integral component of membrane [GO:0016021]
snps: rs9893710 rs28532307
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8N9T8
geneSymbol: KRI1
name: Protein KRI1 homolog
length: 703
snps: rs12984043 rs11545166 rs3745249 rs34743532 rs33999611 rs3826709 rs1982074 rs3087689
sequence:

opentargets:
90S preribosome [GO:0030686]; nucleolus [GO:0005730]; RNA binding [GO:0003723]; endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000447]


uniprotID: Q9BYP8
geneSymbol: KRTAP17-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 17-1 (Keratin-associated protein 16.1)
length: 105
go: ENSG00000186860;
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
sequence:
MGCCPGDCFTCCTQEQNCCEECCCQPGCCGCCGSCCGCGGSGCGGSGCGGSCCGSSCCGSGCGGCGGCGGCGGGCCGSSCCGSSCCGSGCCGPVCCQPTPICDTK


uniprotID: Q8NBE8
geneSymbol: KLHL23
name: Kelch-like protein 23
length: 558
go: ENSG00000213160;
sequence:


uniprotID: O75676
geneSymbol: RPS6KA4
reactome: R-HSA-437239;
length: 772
go: ENSG00000162302;
drug: DB03247;
snps: rs746466314 rs17857342
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11035004, ECO:0000269|PubMed:9792677}.
name:
Ribosomal protein S6 kinase alpha-4 (S6K-alpha-4) (EC 2.7.11.1) (90 kDa ribosomal protein S6 kinase 4) (Nuclear mitogen- and stress-activated protein kinase 2) (Ribosomal protein kinase B) (RSKB)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; ribosomal protein S6 kinase activity [GO:0004711]; histone H3-S10 phosphorylation [GO:0043987]; histone H3-S28 phosphorylation [GO:0043988]; histone phosphorylation [GO:0016572]; inflammatory response [GO:0006954]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; negative regulation of cytokine production [GO:0001818]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of histone acetylation [GO:0035066]; positive regulation of histone phosphorylation [GO:0033129]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75676-1; Sequence=Displayed; Name=2; IsoId=O75676-2; Sequence=VSP_017733; 


uniprotID: Q9BYR7
geneSymbol: KRTAP3-2
reactome: R-HSA-6805567;
sequence: MDCCASRSCSVPTGPATTICSSDKSCRCGVCLPSTCPHTVWLLEPICCDNCPPPCHIPQPCVPTCFLLNSCQPTPGLETLNLTTFTQPCCEPCLPRGC
length: 98
go: ENSG00000212900;
snps: rs9897046 rs3829598 rs3813050
name:
Keratin-associated protein 3-2 (High sulfur keratin-associated protein 3.2) (Keratin-associated protein 3.2)


uniprotID: P01599
geneSymbol: IGKV1-17
name: Immunoglobulin kappa variable 1-17 (Ig kappa chain V-I region Gal) (Ig kappa chain V-I region WEA)
length: 117
go: ENSG00000240382;
sequence:
MDMRVPAQLLGLLLLWFPGARCDIQMTQSPSSLSASVGDRVTITCRASQGIRNDLGWYQQKPGKAPKRLIYAASSLQSGVPSRFSGSGSGTEFTLTISSLQPEDFATYYCLQHNSYP


uniprotID: Q13601
geneSymbol: KRR1
reactome: R-HSA-6790901;R-HSA-6791226;
length: 381
go: ENSG00000111615;
snps: rs11540407
name:
KRR1 small subunit processome component homolog (HIV-1 Rev-binding protein 2) (KRR-R motif-containing protein 1) (Rev-interacting protein 1) (Rip-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; intercellular bridge [GO:0045171]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13601-1; Sequence=Displayed; Name=2; IsoId=Q13601-2; Sequence=VSP_042223; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|Ref.6}. Nucleus {ECO:0000269|Ref.6}. Nucleus, nucleolus {ECO:0000269|PubMed:12429849}. Note=Translocates from cytoplasm to nucleus after exposure to HIV-1 virus or HIV-1 protein VPR or induction by hydrocortisone and dexamethasone in the absence of HIV-1 protein VPR (Ref.6).


uniprotID: A8MTY7
geneSymbol: KRTAP9-7
reactome: R-HSA-6805567;
name: Keratin-associated protein 9-7 (Keratin-associated protein 9-like 1)
length: 169
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs4890107 rs12948628
sequence:
MTHCCSPCCQPTCCRTTCWKPTTVTTCSSTPCCQPSCCVSSCCQPCCHPTCCQNTCCRTTCCQPTCVTSCCQPSCCSTPCCQPICCGSSCCGQTSCGSSCCQPSSCAPIYCRRTCYHPTSVYLPGCLNQSCGSSCCQPCCRPACCETTCCRTTCFQPTCVTSCCQPACC


uniprotID: Q9BYP9
geneSymbol: KRTAP9-9
reactome: R-HSA-6805567;
length: 154
go: ENSG00000198083;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs9903833 rs9902235
name:
Keratin-associated protein 9-9 (Keratin-associated protein 9-5) (Keratin-associated protein 9.5) (Keratin-associated protein 9.9) (Ultrahigh sulfur keratin-associated protein 9.9)

sequence:
MTHCCSPCCQPTCCRTTCCRTTCWKPTTVTTCSSTPCCQPSCCVSSCCQPCCRPACCQNTCCRTTCCQPTCLSSCCGQTSCGSSCGQSSSCAPVYCRRTCYYPTTVCLPGCLNQSCGSSCCQPCCRPACCETTCCRTTCFQPTCVSSCCQPSCC

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BYP9-1; Sequence=Displayed; Name=2; IsoId=Q9BYP9-2; Sequence=VSP_028981; Name=3; IsoId=Q9BYP9-3; Sequence=VSP_054315, VSP_028981; Note=No experimental confirmation available.; 


uniprotID: P04430
geneSymbol: IGKV1-16
name: Immunoglobulin kappa variable 1-16 (Ig kappa chain V-I region BAN)
length: 117
go: ENSG00000240864;
sequence:
MDMRVLAQLLGLLLLCFPGARCDIQMTQSPSSLSASVGDRVTITCRASQGISNYLAWFQQKPGKAPKSLIYAASSLQSGVPSKFSGSGSGTDFTLTISSLQPEDFATYYCQQYNSYP


uniprotID: Q96MU8
geneSymbol: KREMEN1
reactome: R-HSA-201681;R-HSA-3772470;R-HSA-5339717;
pdb: 5FWS;5FWT;5FWU;5FWV;5FWW;
length: 473
go: ENSG00000183762;
snps: rs1057524917
name:
Kremen protein 1 (Dickkopf receptor) (Kringle domain-containing transmembrane protein 1) (Kringle-containing protein marking the eye and the nose)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; apoptotic process [GO:0006915]; cell communication [GO:0007154]; limb development [GO:0060173]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of ossification [GO:0030279]; regulation of canonical Wnt signaling pathway [GO:0060828]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96MU8-1; Sequence=Displayed; Note=No experimental confirmation available. Exon 1 splicing donor site is not canonical.; Name=2; IsoId=Q96MU8-2; Sequence=VSP_034914, VSP_003900; Note=No experimental confirmation available.; Name=3; IsoId=Q96MU8-3; Sequence=VSP_034914, VSP_015698; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q99N43}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q14657
geneSymbol: LAGE3
reactome: R-HSA-6782315;
name: EKC/KEOPS complex subunit LAGE3 (L antigen family member 3) (Protein ESO-3) (Protein ITBA2)
length: 143
go: ENSG00000196976;
sequence:
MRDADADAGGGADGGDGRGGHSCRGGVDTAAAPAGGAPPAHAPGPGRDAASAARGSRMRPHIFTLSVPFPTPLEAEIAHGSLAPDAEPHQRVVGKDLTVSGRILVVRWKAEDCRLLRISVINFLDQLSLVVRTMQRFGPPVSR

opentargets:
cytoplasm [GO:0005737]; EKC/KEOPS complex [GO:0000408]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; tRNA processing [GO:0008033]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28805828}. Nucleus {ECO:0000269|PubMed:22912744, ECO:0000269|PubMed:27903914, ECO:0000269|PubMed:28805828}.


uniprotID: Q16363
geneSymbol: LAMA4
reactome: R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-8874081;
length: 1823
go: ENSG00000112769;
snps: rs35349917 rs11757455 rs9400522 rs3752579 rs1050348 rs2032567 rs1050349 rs12110554 rs3734292
name:
Laminin subunit alpha-4 (Laminin-14 subunit alpha) (Laminin-8 subunit alpha) (Laminin-9 subunit alpha)

sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular matrix structural constituent [GO:0005201]; signaling receptor binding [GO:0005102]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]; negative regulation of cold-induced thermogenesis [GO:0120163]; regulation of cell adhesion [GO:0030155]; regulation of cell migration [GO:0030334]; regulation of embryonic development [GO:0045995]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16363-1; Sequence=Displayed; Name=2; IsoId=Q16363-2; Sequence=VSP_017542; Name=3; IsoId=Q16363-3; Sequence=VSP_038853, VSP_038854; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.


uniprotID: A0A0A0MT36
geneSymbol: IGKV6D-21
name: Immunoglobulin kappa variable 6D-21
length: 114
go: ENSG00000225523;
sequence:
MSPSQLIGFLLLWVPASRGEIVLTQSPDFQSVTPKEKVTITCRASQSIGSSLHWYQQKPDQSPKLLIKYASQSISGVPSRFSGSGSGTDFTLTINSLEAEDAAAYYCHQSSSLP


uniprotID: Q969E1
geneSymbol: LEAP2
reactome: R-HSA-6803157;
pdb: 2L1Q;
name: Liver-expressed antimicrobial peptide 2 (LEAP-2)
sequence: MWHLKLCAVLMIFLLLLGQIDGSPIPEVSSAKRRPRRMTPFWRGVSLRPIGASCRDDSECITRLCRKRRCSLSVAQE
length: 77
go: ENSG00000164406;
location: SUBCELLULAR LOCATION: Secreted.
opentargets:
extracellular region [GO:0005576]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; defense response to bacterium [GO:0042742]; defense response to fungus [GO:0050832]


uniprotID: P01130
geneSymbol: LDLR
reactome: R-HSA-8856825;R-HSA-8856828;R-HSA-8964026;R-HSA-8964038;R-HSA-975634;
name: Low-density lipoprotein receptor (LDL receptor)
length: 860
go: ENSG00000130164;
drug: DB00707;
pdb:
1AJJ;1D2J;1F5Y;1F8Z;1HJ7;1HZ8;1I0U;1IJQ;1LDL;1LDR;1LRX;1N7D;1XFE;2FCW;2KRI;2LGP;2M7P;2MG9;2W2M;2W2N;2W2O;2W2P;2W2Q;3BPS;3GCW;3GCX;3M0C;3P5B;3P5C;3SO6;4NE9;5OY9;5OYL;

sequence:

opentargets:
apical part of cell [GO:0045177]; basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; clathrin-coated endocytic vesicle membrane [GO:0030669]; clathrin-coated pit [GO:0005905]; early endosome [GO:0005769]; endolysosome membrane [GO:0036020]; endosome membrane [GO:0010008]; external side of plasma membrane [GO:0009897]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; late endosome [GO:0005770]; low-density lipoprotein particle [GO:0034362]; lysosome [GO:0005764]; membrane [GO:0016020]; PCSK9-LDLR complex [GO:1990666]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; somatodendritic compartment [GO:0036477]; sorting endosome [GO:0097443]; amyloid-beta binding [GO:0001540]; calcium ion binding [GO:0005509]; clathrin heavy chain binding [GO:0032050]; identical protein binding [GO:0042802]; low-density lipoprotein particle binding [GO:0030169]; low-density lipoprotein particle receptor activity [GO:0005041]; protease binding [GO:0002020]; very-low-density lipoprotein particle receptor activity [GO:0030229]; virus receptor activity [GO:0001618]; amyloid-beta clearance [GO:0097242]; cellular response to fatty acid [GO:0071398]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cholesterol homeostasis [GO:0042632]; cholesterol import [GO:0070508]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; chylomicron remnant clearance [GO:0034382]; endocytosis [GO:0006897]; high-density lipoprotein particle clearance [GO:0034384]; intestinal cholesterol absorption [GO:0030299]; lipid metabolic process [GO:0006629]; lipoprotein catabolic process [GO:0042159]; long-term memory [GO:0007616]; low-density lipoprotein particle clearance [GO:0034383]; membrane organization [GO:0061024]; negative regulation of amyloid fibril formation [GO:1905907]; negative regulation of astrocyte activation [GO:0061889]; negative regulation of gene expression [GO:0010629]; negative regulation of microglial cell activation [GO:1903979]; negative regulation of protein metabolic process [GO:0051248]; phospholipid transport [GO:0015914]; plasma lipoprotein particle clearance [GO:0034381]; positive regulation of amyloid-beta clearance [GO:1900223]; positive regulation of endocytosis [GO:0045807]; positive regulation of gene expression [GO:0010628]; positive regulation of inflammatory response [GO:0050729]; positive regulation of lipoprotein particle clearance [GO:0010986]; positive regulation of lysosomal protein catabolic process [GO:1905167]; positive regulation of triglyceride biosynthetic process [GO:0010867]; receptor-mediated endocytosis [GO:0006898]; receptor-mediated endocytosis involved in cholesterol transport [GO:0090118]; regulation of cholesterol metabolic process [GO:0090181]; regulation of phosphatidylcholine catabolic process [GO:0010899]; regulation of protein metabolic process [GO:0051246]; response to caloric restriction [GO:0061771]

snps:
rs5931 rs2228671 rs121908041 rs137853960 rs137853960 rs879254418 rs878854026 rs370860696 rs121908025 rs875989894 rs771019366 rs749038326 rs749038326 rs774467219 rs879254456 rs144172724 rs13306510 rs140807148 rs879254482 rs879254514 rs879254515 rs879254517 rs748944640 rs875989901 rs879254526 rs879254535 rs879254536 rs879254541 rs200727689 rs200727689 rs200727689 rs879254554 rs879254554 rs879254558 rs769318035 rs121908033 rs121908033 rs121908026 rs879254571 rs121908039 rs376459828 rs730882085 rs376459828 rs879254589 rs879254603 rs373822756 rs875989906 rs875989906 rs730882086 rs879254630 rs387906303 rs879254630 rs879254635 rs121908028 rs121908029 rs121908029 rs746091400 rs768563000 rs879254659 rs879254663 rs879254663 rs150673992 rs879254667 rs879254668 rs879254670 rs200990725 rs121908040 rs139043155 rs879254683 rs879254692 rs146651743 rs730882089 rs148698650 rs730882091 rs140241383 rs368657165 rs767618089 rs879254714 rs879254714 rs879254716 rs879254715 rs875989909 rs121908030 rs11547917 rs875989911 rs875989910 rs72658858 rs879254739 rs879254738 rs879254739 rs879254747 rs747507019 rs761954844 rs761954844 rs544453230 rs879254753 rs780563386 rs139361635 rs730882096 rs875989914 rs879254769 rs193922566 rs755449669 rs755449669 rs767767730 rs879254781 rs875989915 rs879254787 rs746982741 rs879254791 rs768430352 rs879254792 rs879254797 rs879254803 rs879254804 rs11669576 rs875989918 rs121908038 rs146200173 rs879254831 rs879254834 rs552422789 rs121908043 rs137943601 rs748554592 rs879254845 rs773658037 rs570942190 rs879254849 rs28942078 rs28942079 rs730882100 rs121908036 rs745343524 rs5933 rs879254862 rs879254863 rs879254867 rs879254874 rs879254879 rs5932 rs879254891 rs144614838 rs879254900 rs139624145 rs879254905 rs879254906 rs373646964 rs28942080 rs730882106 rs28942081 rs28941776 rs397509365 rs758194385 rs28942082 rs746959386 rs185098634 rs777188764 rs879255000 rs138947766 rs875989929 rs875989929 rs879255012 rs137929307 rs373371572 rs879255025 rs753707206 rs879255034 rs746118995 rs794728584 rs879255081 rs28942083 rs775092314 rs879255119 rs28942084 rs201573863 rs759858813 rs869320652 rs45508991 rs767546791 rs761123215 rs750518671 rs879255208 rs5928 rs374045590 rs137853964 rs28942085 rs121908037 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P01130-1; Sequence=Displayed; Name=2; IsoId=P01130-2; Sequence=VSP_043053, VSP_043054; Note=No experimental confirmation available.; Name=3; IsoId=P01130-3; Sequence=VSP_055014, VSP_055015; Note=No experimental confirmation available.; Name=4; IsoId=P01130-4; Sequence=VSP_043595; Note=No experimental confirmation available.; Name=5; IsoId=P01130-5; Sequence=VSP_045525; Note=No experimental confirmation available.; Name=6; IsoId=P01130-6; Sequence=VSP_047413; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17461796, ECO:0000269|PubMed:19520913}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P01131}. Membrane, clathrin-coated pit {ECO:0000303|PubMed:6091915}. Golgi apparatus {ECO:0000269|PubMed:17461796}. Early endosome {ECO:0000269|PubMed:17461796}. Late endosome {ECO:0000269|PubMed:17461796}. Lysosome {ECO:0000269|PubMed:17461796}. Note=Rapidly endocytosed upon ligand binding. {ECO:0000269|PubMed:3104336}.


uniprotID: Q9Y383
geneSymbol: LUC7L2
name: Putative RNA-binding protein Luc7-like 2
length: 392
go: ENSG00000146963;
snps: rs3757435
sequence:

opentargets:
nuclear speck [GO:0016607]; U1 snRNP [GO:0005685]; U2-type prespliceosome [GO:0071004]; enzyme binding [GO:0019899]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA splice site selection [GO:0006376]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y383-1; Sequence=Displayed; Name=2; IsoId=Q9Y383-2; Sequence=VSP_010217; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y383-3; Sequence=VSP_044896; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250|UniProtKB:Q7TNC4}. Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q7TNC4}. Note=Colocalizes with SCNM1 and SNRNP70 in nuclear speckles. {ECO:0000250|UniProtKB:Q7TNC4}.


uniprotID: Q6ZP29
geneSymbol: PQLC2
reactome: R-HSA-5223345;
name: Lysosomal amino acid transporter 1 homolog (PQ-loop repeat-containing protein 2)
length: 291
go: ENSG00000040487;
snps: rs12140547
sequence:

opentargets:
integral component of organelle membrane [GO:0031301]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; arginine transmembrane transporter activity [GO:0015181]; basic amino acid transmembrane transporter activity [GO:0015174]; L-lysine transmembrane transporter activity [GO:0015189]; amino acid homeostasis [GO:0080144]; arginine transport [GO:0015809]; lysine transport [GO:0015819]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZP29-1; Sequence=Displayed; Name=2; IsoId=Q6ZP29-2; Sequence=VSP_024151; Name=3; IsoId=Q6ZP29-3; Sequence=VSP_024152; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:22822152}; Multi-pass membrane protein {ECO:0000269|PubMed:22822152}.


uniprotID: Q9BYQ9
geneSymbol: KRTAP4-8
reactome: R-HSA-6805567;
length: 185
go: ENSG00000204880;
name:
Keratin-associated protein 4-8 (Keratin-associated protein 4.8) (Ultrahigh sulfur keratin-associated protein 4.8)

sequence:
MVNSCCGSVCSDQGCGQDLCQETCCCPSCCQTTCCRTTCYRPSYSVSCCCRPQCCQSVCCQPTCCRPSCCVSSCCKPQCCQSVCCQPTCCHPSCCISSCCRPSCCVSSCCKPQCCQSVCCQPNCCRPSCSISSCCRPSCCESSCCRPCCCLRPVCGRVSCHTTCYRPACVISTCPRPVCCASSCC

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; aging [GO:0007568]; hair cycle [GO:0042633]; keratinization [GO:0031424]


uniprotID: Q01650
geneSymbol: SLC7A5
reactome: R-HSA-210991;R-HSA-352230;R-HSA-71240;
length: 507
go: ENSG00000103257;
drug: DB01746;DB02556;DB00509;DB01235;DB00451;DB00279;DB01042;DB02750;
snps: rs17853937 rs1060250
name:
Large neutral amino acids transporter small subunit 1 (4F2 light chain) (4F2 LC) (4F2LC) (CD98 light chain) (Integral membrane protein E16) (L-type amino acid transporter 1) (hLAT1) (Solute carrier family 7 member 5) (y+ system cationic amino acid transporter)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; L-amino acid transmembrane transporter activity [GO:0015179]; neutral amino acid transmembrane transporter activity [GO:0015175]; peptide antigen binding [GO:0042605]; cell differentiation [GO:0030154]; cellular amino acid metabolic process [GO:0006520]; leukocyte migration [GO:0050900]; nervous system development [GO:0007399]; neutral amino acid transport [GO:0015804]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Apical cell membrane; Multi-pass membrane protein. Note=Located to the plasma membrane by SLC3A2/4F2hc. Localized to the apical membrane of placental syncytiophoblastic cells. Expressed in both luminal and abluminal membranes of brain capillary endothelial cells (By similarity). {ECO:0000250}.


uniprotID: P11047
geneSymbol: LAMC1
pdb: 5XAU;
length: 1609
go: ENSG00000135862;
snps: rs20563 rs2230157 rs20558 rs548688323 rs20559
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
reactome:
R-HSA-1474228;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-373760;R-HSA-381426;R-HSA-8874081;R-HSA-8957275;

name:
Laminin subunit gamma-1 (Laminin B2 chain) (Laminin-1 subunit gamma) (Laminin-10 subunit gamma) (Laminin-11 subunit gamma) (Laminin-2 subunit gamma) (Laminin-3 subunit gamma) (Laminin-4 subunit gamma) (Laminin-6 subunit gamma) (Laminin-7 subunit gamma) (Laminin-8 subunit gamma) (Laminin-9 subunit gamma) (S-laminin subunit gamma) (S-LAM gamma)

sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; laminin-1 complex [GO:0005606]; laminin-10 complex [GO:0043259]; laminin-11 complex [GO:0043260]; extracellular matrix structural constituent [GO:0005201]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; cellular protein metabolic process [GO:0044267]; endoderm development [GO:0007492]; extracellular matrix disassembly [GO:0022617]; extracellular matrix organization [GO:0030198]; hemidesmosome assembly [GO:0031581]; positive regulation of epithelial cell proliferation [GO:0050679]; post-translational protein modification [GO:0043687]; protein-containing complex assembly [GO:0065003]; substrate adhesion-dependent cell spreading [GO:0034446]


uniprotID: Q8IUG1
geneSymbol: KRTAP1-3
reactome: R-HSA-6805567;
name: Keratin-associated protein 1-3 (Keratin-associated protein 1.8) (Keratin-associated protein 1.9)
length: 177
snps: rs62624960
sequence:
MTCCQTSFCGYPSCSTSGTCGSSCCQPSCCETSCCQPSCCETSCCQPSCCQTSFCGFPSFSTSGTCSSSCCQPSCCETSCCQPSCCQTSSCGTGCGIGGGIGYGQEGSSGAVSTRIRWCRPDCRVEGTCLPPCCVVSCTPPTCCQLHHAEASCCRPSYCGQSCCRPVCCCYSCEPTC

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; structural constituent of epidermis [GO:0030280]; keratinization [GO:0031424]


uniprotID: Q8NBH2
geneSymbol: KY
name: Kyphoscoliosis peptidase (EC 3.4.-.-)
length: 561
go: ENSG00000174611;
opentargets: cytoskeleton [GO:0005856]; Z disc [GO:0030018]; peptidase activity [GO:0008233]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NBH2-1; Sequence=Displayed; Name=2; IsoId=Q8NBH2-2; Sequence=VSP_025718, VSP_025719, VSP_025720, VSP_025721, VSP_025722; Note=No experimental confirmation available.; Name=3; IsoId=Q8NBH2-3; Sequence=VSP_025719, VSP_040975; Name=4; IsoId=Q8NBH2-4; Sequence=VSP_040975; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}.


uniprotID: Q16719
geneSymbol: KYNU
reactome: R-HSA-71240;
pdb: 2HZP;3E9K;
name: Kynureninase (EC 3.7.1.3) (L-kynurenine hydrolase)
length: 465
go: ENSG00000115919;
drug: DB07069;DB00160;DB00114;
snps: rs2304705 rs606231307 rs9013
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; 3-hydroxykynureninase activity [GO:0061981]; kynureninase activity [GO:0030429]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; 'de novo' NAD biosynthetic process from tryptophan [GO:0034354]; aging [GO:0007568]; anthranilate metabolic process [GO:0043420]; L-kynurenine catabolic process [GO:0097053]; NAD biosynthetic process [GO:0009435]; quinolinate biosynthetic process [GO:0019805]; response to interferon-gamma [GO:0034341]; response to vitamin B6 [GO:0034516]; tryptophan catabolic process [GO:0006569]; tryptophan catabolic process to acetyl-CoA [GO:0019442]; tryptophan catabolic process to kynurenine [GO:0019441]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16719-1; Sequence=Displayed; Name=2; IsoId=Q16719-2; Sequence=VSP_042739, VSP_042740; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000255|HAMAP-Rule:MF_03017, ECO:0000269|PubMed:8706755}.


uniprotID: O76014
geneSymbol: KRT37
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cuticular Ha7 (Hair keratin, type I Ha7) (Keratin-37) (K37)
length: 449
go: ENSG00000108417;
snps: rs9910204 rs9916724 rs9916484 rs9916475 rs16966811 rs2071607 rs35371972 rs8071814 rs17737019
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: A0A0U1RRK4
geneSymbol: LBHD2
name: LBH domain-containing protein 2
length: 108
sequence:
MSTPRPAPPQPGAAEGAGGPEGKAVAGAWEKGPRLGQRLPSIVVEPSEADPVESGELRWPLESAQRGPSQSRAAAAPSPSLPGEPGKAADNAGSECACSEDPAAPARG


uniprotID: Q71RC2
geneSymbol: LARP4
pdb: 2CQK;3PKN;
name: La-related protein 4 (La ribonucleoprotein domain family member 4)
length: 724
go: ENSG00000161813;
snps: rs17124706 rs17124715
sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; membrane [GO:0016020]; poly(A) binding [GO:0008143]; RNA binding [GO:0003723]; cytoskeleton organization [GO:0007010]; positive regulation of translation [GO:0045727]; regulation of cell morphogenesis [GO:0022604]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q71RC2-1; Sequence=Displayed; Name=2; IsoId=Q71RC2-2; Sequence=VSP_033811, VSP_014611, VSP_014612; Note=No experimental confirmation available.; Name=3; IsoId=Q71RC2-3; Sequence=VSP_033811; Note=May be due to competing acceptor splice site. No experimental confirmation available.; Name=4; IsoId=Q71RC2-4; Sequence=VSP_033812; Note=No experimental confirmation available.; Name=5; IsoId=Q71RC2-5; Sequence=VSP_045677; Note=No experimental confirmation available.; Name=6; IsoId=Q71RC2-6; Sequence=VSP_046780; Note=No experimental confirmation available.; Name=7; IsoId=Q71RC2-7; Sequence=VSP_046781; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, Stress granule {ECO:0000269|PubMed:21098120}. Cytoplasm, cytosol {ECO:0000269|PubMed:21098120, ECO:0000269|PubMed:27615744}. Note=Localized throughout the cytosol. Partially localized in stress granules in response to arsenite treatment. {ECO:0000269|PubMed:21098120}.


uniprotID: O75112
geneSymbol: LDB3
pdb: 1RGW;4YDP;
name: LIM domain-binding protein 3 (Protein cypher) (Z-band alternatively spliced PDZ-motif protein)
length: 727
go: ENSG00000122367;
snps: rs3740343 rs45592139 rs45487699 rs121908337 rs121908336 rs45618633 rs45514002
sequence:

opentargets:
cytoskeleton [GO:0005856]; perinuclear region of cytoplasm [GO:0048471]; pseudopodium [GO:0031143]; Z disc [GO:0030018]; cytoskeletal protein binding [GO:0008092]; metal ion binding [GO:0046872]; muscle alpha-actinin binding [GO:0051371]; protein kinase C binding [GO:0005080]; sarcomere organization [GO:0045214]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1 {ECO:0000305}; IsoId=O75112-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:10427098}; IsoId=O75112-2; Sequence=VSP_051898, VSP_051900; Name=3 {ECO:0000269|PubMed:10427098}; IsoId=O75112-3; Sequence=VSP_051897; Name=4 {ECO:0000269|PubMed:10427098}; IsoId=O75112-4; Sequence=VSP_051899, VSP_051901, VSP_051902; Name=5 {ECO:0000269|PubMed:10427098}; IsoId=O75112-5; Sequence=VSP_051901, VSP_051902; Name=6 {ECO:0000269|PubMed:10427098}; IsoId=O75112-6; Sequence=VSP_051898, VSP_051901, VSP_051902; Name=7; IsoId=O75112-7; Sequence=VSP_051899, VSP_051900; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:10427098}. Cell projection, pseudopodium {ECO:0000269|PubMed:10427098}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10427098}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:10427098}. Note=Localized to the cytoplasm around nuclei and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2 at the Z-lines.


uniprotID: Q92764
geneSymbol: KRT35
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cuticular Ha5 (Hair keratin, type I Ha5) (Keratin-35) (K35)
length: 455
go: ENSG00000197079;
snps: rs743686 rs12451652 rs2071601
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; anatomical structure morphogenesis [GO:0009653]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: P09382
geneSymbol: LGALS1
reactome: R-HSA-381426;R-HSA-8957275;
length: 135
go: ENSG00000100097;
drug: DB03345;DB04396;
pdb:
1GZW;1W6M;1W6N;1W6O;1W6P;1W6Q;2KM2;2ZKN;3OY8;3OYW;3T2T;3W58;3W59;4Q1P;4Q1R;4Q26;4Q27;4Q2F;4XBL;4Y1U;4Y1V;4Y1X;4Y1Y;4Y1Z;4Y20;4Y22;4Y24;5MWT;5MWX;

name:
Galectin-1 (Gal-1) (14 kDa laminin-binding protein) (HLBP14) (14 kDa lectin) (Beta-galactoside-binding lectin L-14-I) (Galaptin) (HBL) (HPL) (Lactose-binding lectin 1) (Lectin galactoside-binding soluble 1) (Putative MAPK-activating protein PM12) (S-Lac lectin 1)

sequence:
MACGLVASNLNLKPGECLRVRGEVAPDAKSFVLNLGKDSNNLCLHFNPRFNAHGDANTIVCNSKDGGAWGTEQREAVFPFQPGSVAEVCITFDQANLTVKLPDGYEFKFPNRLNLEAINYMAADGDFKIKCVAFD

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; nucleus [GO:0005634]; lactose binding [GO:0030395]; laminin binding [GO:0043236]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; cellular protein metabolic process [GO:0044267]; cellular response to glucose stimulus [GO:0071333]; cellular response to organic cyclic compound [GO:0071407]; myoblast differentiation [GO:0045445]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of neuron projection development [GO:0010977]; plasma cell differentiation [GO:0002317]; positive regulation of erythrocyte aggregation [GO:0034120]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of viral entry into host cell [GO:0046598]; post-translational protein modification [GO:0043687]; regulation of apoptotic process [GO:0042981]; response to axon injury [GO:0048678]; response to drug [GO:0042493]; response to isolation stress [GO:0035900]; T cell costimulation [GO:0031295]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:14617626}.


uniprotID: Q96L11
geneSymbol: LLCFC1
name: LLLL and CFNLAS motif-containing protein 1 (MSSP-binding protein CTM-1)
length: 122
go: ENSG00000165131;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MPPLAPQLCRAVFLVPILLLLQVKPLNGSPGPKDGSQTEKTPSADQNQEQFEEHFVASSVGEMWQVVDMAQQEEDQSSKTAAVHKHSFHLSFCFSLASVMVFSGGPLRRTFPNIQLCFMLTH

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CTM-1beta; IsoId=Q96L11-1; Sequence=Displayed; Name=2; Synonyms=CTM-1alpha; IsoId=Q96L11-2; Sequence=VSP_014743, VSP_014744; Name=3; IsoId=Q96L11-3; Sequence=VSP_059617; 


uniprotID: P31025
geneSymbol: LCN1
reactome: R-HSA-804914;
pdb: 1XKI;3EYC;4QAF;5T43;
name: Lipocalin-1 (Tear lipocalin) (Tlc) (Tear prealbumin) (TP) (von Ebner gland protein) (VEG protein)
length: 176
go: ENSG00000160349;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKPLLLAVSLGLIAALQAHHLLASDEEIQDVSGTWYLKAMTVDREFPEMNLESVTPMTLTTLEGGNLEAKVTMLISGRCQEVKAVLEKTDEPGKYTADGGKHVAYIIRSHVKDHYIFYCEGELHGKPVRGVKLVGRDPKNNLEALEDFEKAAGARGLSTESILIPRQSETCSPGSD

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; chloride ion binding [GO:0031404]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; signaling receptor binding [GO:0005102]; small molecule binding [GO:0036094]; zinc ion binding [GO:0008270]; long-chain fatty acid transport [GO:0015909]; proteolysis [GO:0006508]; response to stimulus [GO:0050896]; retina homeostasis [GO:0001895]; sensory perception of taste [GO:0050909]


uniprotID: P42167
geneSymbol: TMPO
reactome: R-HSA-2993913;R-HSA-2995383;R-HSA-4419969;
length: 454
go: ENSG00000120802;
snps: rs7133258 rs1058288
name:
Lamina-associated polypeptide 2, isoforms beta/gamma (Thymopoietin, isoforms beta/gamma) (TP beta/gamma) (Thymopoietin-related peptide isoforms beta/gamma) (TPRP isoforms beta/gamma) [Cleaved into: Thymopoietin (TP) (Splenin); Thymopentin (TP5)]

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; DNA binding [GO:0003677]; lamin binding [GO:0005521]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=Beta; IsoId=P42167-1; Sequence=Displayed; Name=Alpha; IsoId=P42166-1; Sequence=External; Name=Gamma; IsoId=P42167-2; Sequence=VSP_004456; Name=Zeta; IsoId=P42167-3; Sequence=VSP_056162, VSP_056163; Note=Inhibits LAP2beta-mediated repression.; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane; Single-pass type II membrane protein. Note=Tightly associated with the nuclear lamina.; SUBCELLULAR LOCATION: Isoform Zeta: Cytoplasm {ECO:0000269|PubMed:18403046}.


uniprotID: Q5T7P3
geneSymbol: LCE1B
reactome: R-HSA-6809371;
length: 118
go: ENSG00000196734;
name:
Late cornified envelope protein 1B (Late envelope protein 2) (Small proline-rich-like epidermal differentiation complex protein 2A)

sequence:
MSCQQNQQQCQPPPKCIPKCPPKCLTPRCPPKCPPKCPPVSSCCSVSSGGCCGSSSGGSCGSSSGGCCSSGGGGCCLSHHRRRRSHCHRPQSSGCCSQPSGGSSCCGGGSGQHSGGCC

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; structural molecule activity [GO:0005198]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: Q9UHI5
geneSymbol: SLC7A8
reactome: R-HSA-210991;R-HSA-352230;
length: 535
go: ENSG00000092068;
drug: DB00160;DB00130;DB00120;DB01235;DB02750;
name:
Large neutral amino acids transporter small subunit 2 (L-type amino acid transporter 2) (hLAT2) (Solute carrier family 7 member 8)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; L-amino acid transmembrane transporter activity [GO:0015179]; neutral amino acid transmembrane transporter activity [GO:0015175]; organic cation transmembrane transporter activity [GO:0015101]; peptide antigen binding [GO:0042605]; toxin transmembrane transporter activity [GO:0019534]; amino acid transport [GO:0006865]; cellular amino acid metabolic process [GO:0006520]; leukocyte migration [GO:0050900]; metal ion homeostasis [GO:0055065]; neutral amino acid transport [GO:0015804]; response to toxic substance [GO:0009636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UHI5-1; Sequence=Displayed; Name=2; IsoId=Q9UHI5-2; Sequence=VSP_046946; Note=No experimental confirmation available.; Name=3; IsoId=Q9UHI5-3; Sequence=VSP_046945; Note=No experimental confirmation available.; Name=4; IsoId=Q9UHI5-4; Sequence=VSP_046947; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Basolateral cell membrane; Multi-pass membrane protein. Note=Localized to the cytoplasm when expressed alone but when coexpressed with SLC3A2/4F2hc, is localized to the plasma membrane. Colocalized with SLC3A2/4F2hc at the basolateral membrane of kidney cortex proximal tubules and small intestine epithelia of the villi.


uniprotID: A0A075B6S2
geneSymbol: IGKV2D-29
name: Immunoglobulin kappa variable 2D-29
length: 120
go: ENSG00000243264;
sequence:
MRLPAQLLGLLMLWIPGSSADIVMTQTPLSLSVTPGQPASISCKSSQSLLHSDGKTYLYWYLQKPGQPPQLLIYEVSNRFSGVPDRFSGSGSGTDFTLKISRVEAEDVGVYYCMQSIQLP


uniprotID: P83111
geneSymbol: LACTB
name: Serine beta-lactamase-like protein LACTB, mitochondrial (EC 3.4.-.-)
length: 547
go: ENSG00000103642;
snps: rs2729835
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; identical protein binding [GO:0042802]; peptidase activity [GO:0008233]; lipid metabolic process [GO:0006629]; proteolysis [GO:0006508]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=a; IsoId=P83111-1; Sequence=Displayed; Name=2; IsoId=P83111-2; Sequence=VSP_010011; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11551941, ECO:0000269|PubMed:19858488, ECO:0000269|PubMed:28329758}.


uniprotID: Q9UIQ6
geneSymbol: LNPEP
reactome: R-HSA-1236977;R-HSA-1445148;R-HSA-983168;
pdb: 4P8Q;4PJ6;4Z7I;5C97;5JHQ;5MJ6;
length: 1025
go: ENSG00000113441;
snps: rs3797799 rs12520455 rs2303138 rs17087233 rs11746232
name:
Leucyl-cystinyl aminopeptidase (Cystinyl aminopeptidase) (EC 3.4.11.3) (Insulin-regulated membrane aminopeptidase) (Insulin-responsive aminopeptidase) (IRAP) (Oxytocinase) (OTase) (Placental leucine aminopeptidase) (P-LAP) [Cleaved into: Leucyl-cystinyl aminopeptidase, pregnancy serum form]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; early endosome lumen [GO:0031905]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; aminopeptidase activity [GO:0004177]; metalloaminopeptidase activity [GO:0070006]; metallopeptidase activity [GO:0008237]; peptide binding [GO:0042277]; zinc ion binding [GO:0008270]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; cell-cell signaling [GO:0007267]; female pregnancy [GO:0007565]; negative regulation of cold-induced thermogenesis [GO:0120163]; peptide catabolic process [GO:0043171]; protein catabolic process [GO:0030163]; protein polyubiquitination [GO:0000209]; proteolysis [GO:0006508]; SMAD protein signal transduction [GO:0060395]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9UIQ6-1; Sequence=Displayed; Name=2; IsoId=Q9UIQ6-2; Sequence=VSP_005448; Name=3; IsoId=Q9UIQ6-3; Sequence=VSP_005449; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11389728}; Single-pass type II membrane protein {ECO:0000269|PubMed:11389728}. Note=In brain only the membrane-bound form is found. The protein resides in intracellular vesicles together with GLUT4 and can then translocate to the cell surface in response to insulin and/or oxytocin. Localization may be determined by dileucine internalization motifs, and/or by interaction with tankyrases.; SUBCELLULAR LOCATION: Leucyl-cystinyl aminopeptidase, pregnancy serum form: Secreted. Note=During pregnancy serum levels are low in the first trimester, rise progressively during the second and third trimester and decrease rapidly after parturition.


uniprotID: P07942
geneSymbol: LAMB1
pdb: 5XAU;
length: 1786
go: ENSG00000091136;
snps: rs28750165 rs20555 rs35710474 rs20556
reactome:
R-HSA-1474228;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-373760;R-HSA-381426;R-HSA-8874081;R-HSA-8957275;

name:
Laminin subunit beta-1 (Laminin B1 chain) (Laminin-1 subunit beta) (Laminin-10 subunit beta) (Laminin-12 subunit beta) (Laminin-2 subunit beta) (Laminin-6 subunit beta) (Laminin-8 subunit beta)

sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; laminin-1 complex [GO:0005606]; laminin-10 complex [GO:0043259]; laminin-2 complex [GO:0005607]; laminin-8 complex [GO:0043257]; perinuclear region of cytoplasm [GO:0048471]; extracellular matrix structural constituent [GO:0005201]; structural molecule activity [GO:0005198]; cell adhesion [GO:0007155]; cellular protein metabolic process [GO:0044267]; endodermal cell differentiation [GO:0035987]; extracellular matrix organization [GO:0030198]; neuron projection development [GO:0031175]; neuronal-glial interaction involved in cerebral cortex radial glia guided migration [GO:0021812]; odontogenesis [GO:0042476]; positive regulation of cell migration [GO:0030335]; positive regulation of epithelial cell proliferation [GO:0050679]; post-translational protein modification [GO:0043687]; substrate adhesion-dependent cell spreading [GO:0034446]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.


uniprotID: Q9GIP4
geneSymbol: SLC7A5P2
length: 190
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Putative L-type amino acid transporter 1-like protein IMAA (hLAT1 3-transmembrane protein IMAA) (hLAT1 3TM IMAA) (hLAT1 3-transmembrane protein MMAA) (hLAT1 3TM MMAA)

sequence:
MAGAGPKRRALAAPVAEEKEEAREKMMAAKRADGAAPAGEGEGVTLQGNITLLKGVAVIVVAIMSSGIFVTPTGVLKEAGSPGLALVVWAACGVFSIVGALCYAELGTTISKSGGDYAYMLDVYGSLPAFLKLWIELLIIRPSSQYIVALVFATYLLKPLFPTCPVPEEAAKLVACHSVQLIVHQPTQVI

opentargets:
integral component of membrane [GO:0016021]; L-amino acid transmembrane transporter activity [GO:0015179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GIP4-3; Sequence=Displayed; Name=2; IsoId=Q9GIP4-1; Sequence=VSP_040419; 


uniprotID: Q13094
geneSymbol: LCP2
reactome: R-HSA-114604;R-HSA-202433;R-HSA-2424491;R-HSA-2871796;R-HSA-2871809;
pdb: 1H3H;1YWO;2EAP;2ROR;
length: 533
go: ENSG00000043462;
snps: rs34192428
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76 kDa) (SLP-76 tyrosine phosphoprotein) (SLP76)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytosol [GO:0005829]; plasma membrane raft [GO:0044853]; TCR signalosome [GO:0036398]; cytokine secretion [GO:0050663]; Fc-epsilon receptor signaling pathway [GO:0038095]; immune response [GO:0006955]; intracellular signal transduction [GO:0035556]; mast cell activation [GO:0045576]; platelet activation [GO:0030168]; positive regulation of protein kinase activity [GO:0045860]; T cell receptor signaling pathway [GO:0050852]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]


uniprotID: Q6P1M3
geneSymbol: LLGL2
pdb: 3WP0;3WP1;
name: Lethal(2) giant larvae protein homolog 2 (HGL)
length: 1020
go: ENSG00000073350;
snps: rs1671036 rs1671021 rs35991442 rs1671021 rs35474687 rs1661715 rs1661714 rs35886912
sequence:

opentargets:
cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; PDZ domain binding [GO:0030165]; Rab GTPase binding [GO:0017137]; cell division [GO:0051301]; cortical actin cytoskeleton organization [GO:0030866]; establishment of spindle orientation [GO:0051294]; exocytosis [GO:0006887]; regulation of establishment or maintenance of cell polarity [GO:0032878]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=C; IsoId=Q6P1M3-1; Sequence=Displayed; Name=A; IsoId=Q6P1M3-2; Sequence=VSP_017946; Note=No experimental confirmation available.; Name=B; IsoId=Q6P1M3-3; Sequence=VSP_047387, VSP_047388; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15632202}. Note=Localized in the perinuclear structure and faintly at the cell-cell contacts sites in the interphase. Localized at the cell periphery during metaphase. Cortical localization in mitotic cells. Found in the lateral region of polarized epithelial cells.


uniprotID: P05455
geneSymbol: SSB
reactome: R-HSA-73980;R-HSA-749476;
pdb: 1OWX;1S79;1S7A;1YTY;1ZH5;2VOD;2VON;2VOO;2VOP;
name: Lupus La protein (La autoantigen) (La ribonucleoprotein) (Sjoegren syndrome type B antigen) (SS-B)
length: 408
go: ENSG00000138385;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromosome, telomeric region [GO:0000784]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA binding [GO:0003729]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; sequence-specific mRNA binding [GO:1990825]; tRNA binding [GO:0000049]; histone mRNA metabolic process [GO:0008334]; IRES-dependent viral translational initiation [GO:0075522]; nuclear histone mRNA catabolic process [GO:0071045]; protein localization to cytoplasmic stress granule [GO:1903608]; tRNA 3'-end processing [GO:0042780]; tRNA 5'-leader removal [GO:0001682]; tRNA export from nucleus [GO:0006409]; tRNA modification [GO:0006400]; tRNA processing [GO:0008033]


uniprotID: O95835
geneSymbol: LATS1
reactome: R-HSA-2028269;
pdb: 4ZRK;5B5W;5BRK;
length: 1130
go: ENSG00000131023;
snps: rs55945045 rs34793526 rs56149740 rs56348064 rs55874734 rs35163691 rs56412005
name:
Serine/threonine-protein kinase LATS1 (EC 2.7.11.1) (Large tumor suppressor homolog 1) (WARTS protein kinase) (h-warts)

sequence:

opentargets:
cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; estrogen receptor binding [GO:0030331]; magnesium ion binding [GO:0000287]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; cell division [GO:0051301]; cellular protein localization [GO:0034613]; cytoplasmic sequestering of protein [GO:0051220]; G1/S transition of mitotic cell cycle [GO:0000082]; G2/M transition of mitotic cell cycle [GO:0000086]; hippo signaling [GO:0035329]; hormone-mediated signaling pathway [GO:0009755]; inner cell mass cell fate commitment [GO:0001827]; inner cell mass cellular morphogenesis [GO:0001828]; intracellular signal transduction [GO:0035556]; keratinocyte differentiation [GO:0030216]; mammary gland epithelial cell differentiation [GO:0060644]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of apoptotic process [GO:0043065]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; protein phosphorylation [GO:0006468]; regulation of actin filament polymerization [GO:0030833]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; regulation of organ growth [GO:0046620]; regulation of protein complex assembly [GO:0043254]; regulation of ubiquitin-dependent protein catabolic process [GO:2000058]; sister chromatid segregation [GO:0000819]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:9988268}; IsoId=O95835-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=O95835-2; Sequence=VSP_051604, VSP_051605; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:10518011}. Note=Localizes to the centrosomes throughout interphase but migrates to the mitotic apparatus, including spindle pole bodies, mitotic spindle, and midbody, during mitosis.


uniprotID: Q96EK9
geneSymbol: KTI12
name: Protein KTI12 homolog
length: 354
go: ENSG00000198841;
opentargets: ATP binding [GO:0005524]
snps: rs2783175
sequence:


uniprotID: A0A0B4J1Z2
geneSymbol: IGKV1D-43
name: Immunoglobulin kappa variable 1D-43
length: 117
sequence:
MDMRVPAQRLGLLLLWFPGARCAIRMTQSPFSLSASVGDRVTITCWASQGISSYLAWYQQKPAKAPKLFIYYASSLQSGVPSRFSGSGSGTDYTLTISSLQPEDFATYYCQQYYSTP


uniprotID: Q6JVE6
geneSymbol: LCN10
name: Epididymal-specific lipocalin-10
length: 187
go: ENSG00000187922;
opentargets: extracellular region [GO:0005576]; small molecule binding [GO:0036094]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MRQGLLVLALVLVLVLVLAAGSQVQEWYPRESHALNWNKFSGFWYILATATDAQGFLPARDKRKLGASVVKVNKVGQLRVLLAFRRGQGCGRAQPRHPGTSGHLWASLSVKGVKAFHVLSTDYSYGLVYLRLGRATQNYKNLLLFHRQNVSSFQSLKEFMDACDILGLSKAAVILPKDASRTHTILP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6JVE6-1; Sequence=Displayed; Name=2; IsoId=Q6JVE6-2; Sequence=VSP_040220; 


uniprotID: Q9BYQ5
geneSymbol: KRTAP4-6
reactome: R-HSA-6805567;
length: 205
go: ENSG00000198090;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 4-6 (Keratin-associated protein 4-15) (Keratin-associated protein 4.15) (Keratin-associated protein 4.6) (Ultrahigh sulfur keratin-associated protein 4.15)

sequence:


uniprotID: O75449
geneSymbol: KATNA1
name: Katanin p60 ATPase-containing subunit A1 (Katanin p60 subunit A1) (EC 5.6.1.1) (p60 katanin)
length: 491
go: ENSG00000186625;
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; microtubule [GO:0005874]; midbody [GO:0030496]; mitotic spindle pole [GO:0097431]; spindle [GO:0005819]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule-severing ATPase activity [GO:0008568]; protein heterodimerization activity [GO:0046982]; cell cycle [GO:0007049]; cell division [GO:0051301]; cytoplasmic microtubule organization [GO:0031122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75449-1; Sequence=Displayed; Name=2; IsoId=O75449-2; Sequence=VSP_012948, VSP_012949, VSP_012950; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10751153, ECO:0000269|PubMed:26929214, ECO:0000269|PubMed:9658175}. Midbody {ECO:0000269|PubMed:19261606}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000255|HAMAP-Rule:MF_03023}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:10751153, ECO:0000269|PubMed:26929214, ECO:0000269|PubMed:9658175}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:26929214}. Note=Predominantly cytoplasmic (PubMed:9658175). Localized diffusely in the cytoplasm during the interphase (PubMed:10751153). During metaphase is localized throughout the cell and more widely dispersed than the microtubules. In anaphase and telophase is localized at the midbody region (PubMed:19261606). Also localized to the interphase centrosome and the mitotic spindle poles (By similarity). Enhanced recruitment to the mitotic spindle poles requires microtubules and interaction with KATNB1 (PubMed:10751153). Localizes within the cytoplasm, partially overlapping with microtubules, in interphase and to the mitotic spindle and spindle poles during mitosis (PubMed:26929214). {ECO:0000255|HAMAP-Rule:MF_03023, ECO:0000269|PubMed:10751153, ECO:0000269|PubMed:19261606, ECO:0000269|PubMed:26929214, ECO:0000269|PubMed:9658175}.


uniprotID: Q08380
geneSymbol: LGALS3BP
reactome: R-HSA-114608;
pdb: 1BY2;6GFB;
length: 585
go: ENSG00000108679;
name:
Galectin-3-binding protein (Basement membrane autoantigen p105) (Lectin galactoside-binding soluble 3-binding protein) (Mac-2-binding protein) (MAC2BP) (Mac-2 BP) (Tumor-associated antigen 90K)

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; platelet dense granule lumen [GO:0031089]; scavenger receptor activity [GO:0005044]; cell adhesion [GO:0007155]; cellular defense response [GO:0006968]; platelet degranulation [GO:0002576]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8390986}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:9501082}.


uniprotID: Q92604
geneSymbol: LPGAT1
reactome: R-HSA-1482925;
name: Acyl-CoA:lysophosphatidylglycerol acyltransferase 1 (EC 2.3.1.-)
length: 370
go: ENSG00000123684;
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; 2-acylglycerol-3-phosphate O-acyltransferase activity [GO:0047144]; transferase activity, transferring acyl groups [GO:0016746]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; phospholipid biosynthetic process [GO:0008654]; positive regulation of fatty acid biosynthetic process [GO:0045723]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15485873}; Multi-pass membrane protein {ECO:0000269|PubMed:15485873}.


uniprotID: Q15012
geneSymbol: LAPTM4A
name: Lysosomal-associated transmembrane protein 4A (Golgi 4-transmembrane-spanning transporter MTP)
length: 233
go: ENSG00000068697;
sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=May reside in an intracellular membrane-bound compartment. {ECO:0000305}.


uniprotID: Q5T753
geneSymbol: LCE1E
reactome: R-HSA-6809371;
name: Late cornified envelope protein 1E (Late envelope protein 5)
length: 118
go: ENSG00000186226;
snps: rs11205106 rs56313719
sequence:
MSCQQSQQQCQPPPKCTPKCPPKCPTPKCPPKCPPKCPPVSSCCSVSSGGCCGSSSGGSCGSSSGGCCSSGGGGCCLSHHRHHRSHRHRPQSSDCCSQPSGGSSCCGGGSGQHSGGCC


uniprotID: P18428
geneSymbol: LBP
reactome: R-HSA-166016;R-HSA-166020;R-HSA-5686938;R-HSA-6785807;
name: Lipopolysaccharide-binding protein (LBP)
length: 481
go: ENSG00000129988;
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; lipopeptide binding [GO:0071723]; lipopolysaccharide binding [GO:0001530]; lipoteichoic acid binding [GO:0070891]; signaling receptor binding [GO:0005102]; acute-phase response [GO:0006953]; cellular defense response [GO:0006968]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to lipoteichoic acid [GO:0071223]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; detection of molecule of bacterial origin [GO:0032490]; innate immune response [GO:0045087]; leukocyte chemotaxis involved in inflammatory response [GO:0002232]; lipopolysaccharide transport [GO:0015920]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; macromolecule localization [GO:0033036]; macrophage activation involved in immune response [GO:0002281]; negative regulation of growth of symbiont in host [GO:0044130]; negative regulation of tumor necrosis factor production [GO:0032720]; opsonization [GO:0008228]; positive regulation of chemokine production [GO:0032722]; positive regulation of cytolysis [GO:0045919]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of macrophage activation [GO:0043032]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of respiratory burst involved in inflammatory response [GO:0060265]; positive regulation of toll-like receptor 4 signaling pathway [GO:0034145]; positive regulation of tumor necrosis factor biosynthetic process [GO:0042535]; positive regulation of tumor necrosis factor production [GO:0032760]; response to lipopolysaccharide [GO:0032496]; toll-like receptor 4 signaling pathway [GO:0034142]; toll-like receptor signaling pathway [GO:0002224]

snps:
rs2232580 rs2232583 rs2232585 rs36015492 rs2232586 rs5744204 rs2232601 rs2232607 rs2232608 rs2232613 rs5744212 rs2232615 rs2232618 rs2232619 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:2402637, ECO:0000269|PubMed:24120359, ECO:0000269|PubMed:7517398}. Cytoplasmic granule membrane {ECO:0000250|UniProtKB:P17213}. Note=Membrane-associated in polymorphonuclear Leukocytes (PMN) granules. {ECO:0000250|UniProtKB:P17213}.


uniprotID: Q13330
geneSymbol: MTA1
reactome: R-HSA-3214815;R-HSA-3232118;R-HSA-427389;R-HSA-73762;R-HSA-8943724;
pdb: 4BKX;4PBY;4PBZ;4PC0;5FXY;5ICN;6G16;
name: Metastasis-associated protein MTA1
length: 715
go: ENSG00000182979;
snps: rs4983413 rs13707
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; microtubule [GO:0005874]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II repressing transcription factor binding [GO:0001103]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; circadian regulation of gene expression [GO:0032922]; double-strand break repair [GO:0006302]; entrainment of circadian clock by photoperiod [GO:0043153]; histone deacetylation [GO:0016575]; locomotor rhythm [GO:0045475]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of protein autoubiquitination [GO:1902499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; regulation of gene expression, epigenetic [GO:0040029]; response to ionizing radiation [GO:0010212]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=Q13330-1; Sequence=Displayed; Name=Short; Synonyms=MTA1S; IsoId=Q13330-2; Sequence=VSP_001601, VSP_001602; Name=3; IsoId=Q13330-3; Sequence=VSP_042207; 

location:
SUBCELLULAR LOCATION: Isoform Short: Cytoplasm.; SUBCELLULAR LOCATION: Isoform Long: Nucleus. Nucleus envelope. Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with microtubules. Localization at the nuclear envelope is TPR-dependent.


uniprotID: Q14847
geneSymbol: LASP1
pdb: 3I35;
name: LIM and SH3 domain protein 1 (LASP-1) (Metastatic lymph node gene 50 protein) (MLN 50)
length: 261
go: ENSG00000002834;
sequence:

opentargets:
cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; ion transmembrane transporter activity [GO:0015075]; metal ion binding [GO:0046872]; SH3/SH2 adaptor activity [GO:0005070]; ion transport [GO:0006811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14847-1; Sequence=Displayed; Name=2; IsoId=Q14847-2; Sequence=VSP_016554; Note=No experimental confirmation available.; Name=3; IsoId=Q14847-3; Sequence=VSP_054611; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Associated with the F-actin rich cortical cytoskeleton. {ECO:0000250}.


uniprotID: A8MZ59
geneSymbol: LEUTX
name: Leucine-twenty homeobox
length: 168
go: ENSG00000213921;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:
MHPSLATMGKLASKLQLDLSVVKIWFKNQRAKWKRQQRQQMQTRPSLGPANQTTSVKKEETPSAITTANIRPVSPGISDANDHDLREPSGIKNPGGASASARVSSWDSQSYDIEQICLGASNPPWASTLFEIDEFVKIYDLPGEDDTSSLNQYLFPVCLEYDQLQSSV


uniprotID: O00292
geneSymbol: LEFTY2
reactome: R-HSA-114608;R-HSA-1181150;R-HSA-1433617;
length: 366
go: ENSG00000143768;
snps: rs366439 rs2295418 rs121909126
location: SUBCELLULAR LOCATION: Secreted.
name:
Left-right determination factor 2 (Endometrial bleeding-associated factor) (Left-right determination factor A) (Protein lefty-2) (Protein lefty-A) (Transforming growth factor beta-4) (TGF-beta-4)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; platelet alpha granule lumen [GO:0031093]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; cell development [GO:0048468]; multicellular organism development [GO:0007275]; platelet degranulation [GO:0002576]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00292-1; Sequence=Displayed; Name=2; IsoId=O00292-2; Sequence=VSP_045264; Note=No experimental confirmation available.; 


uniprotID: Q8IVT5
geneSymbol: KSR1
pdb: 5VYK;
name: Kinase suppressor of Ras 1
length: 923
go: ENSG00000141068;
reactome:
R-HSA-5673000;R-HSA-5674135;R-HSA-5675221;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; protein-containing complex [GO:0032991]; ruffle membrane [GO:0032587]; 14-3-3 protein binding [GO:0071889]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; Hsp90 protein binding [GO:0051879]; MAP-kinase scaffold activity [GO:0005078]; metal ion binding [GO:0046872]; mitogen-activated protein kinase kinase binding [GO:0031434]; protein C-terminus binding [GO:0008022]; protein kinase activity [GO:0004672]; cAMP-mediated signaling [GO:0019933]; MAPK cascade [GO:0000165]; positive regulation of MAPK cascade [GO:0043410]; Ras protein signal transduction [GO:0007265]; regulation of cell proliferation [GO:0042127]; regulation of MAP kinase activity [GO:0043405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IVT5-1; Sequence=Displayed; Name=2; IsoId=Q8IVT5-2; Sequence=VSP_055656, VSP_055657; Note=No experimental confirmation available.; Name=3; IsoId=Q8IVT5-3; Sequence=VSP_055655; Note=No experimental confirmation available.; Name=4; IsoId=Q8IVT5-4; Sequence=VSP_055655, VSP_055657; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20679487}. Membrane {ECO:0000269|PubMed:20679487}; Peripheral membrane protein {ECO:0000269|PubMed:20679487}. Cell membrane {ECO:0000250|UniProtKB:Q61097}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q61097}. Cell projection, ruffle membrane {ECO:0000250|UniProtKB:Q61097}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:20679487}. Note=In unstimulated cells, where the phosphorylated form is bound to a 14-3-3 protein, sequestration in the cytoplasm occurs. Following growth factor treatment, the protein is free for membrane translocation, and it moves from the cytoplasm to the cell periphery. {ECO:0000305|PubMed:12007434}.


uniprotID: P60331
geneSymbol: KRTAP10-1
reactome: R-HSA-6805567;
length: 282
go: ENSG00000215455;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs233320 rs233319 rs233317 rs233316
name:
Keratin-associated protein 10-1 (High sulfur keratin-associated protein 10.1) (Keratin-associated protein 10.1) (Keratin-associated protein 18-1) (Keratin-associated protein 18.1)

sequence:


uniprotID: Q3ZCV2
geneSymbol: LEXM
name: Lymphocyte expansion molecule
length: 418
go: ENSG00000162398;
opentargets: mitochondrion [GO:0005739]
snps: rs9782980 rs600499
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:A2AVQ5}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3ZCV2-1; Sequence=Displayed; Name=2; IsoId=Q3ZCV2-2; Sequence=VSP_027294; 


uniprotID: Q9BYR5
geneSymbol: KRTAP4-2
reactome: R-HSA-6805567;
length: 136
go: ENSG00000244537;
snps: rs389784
name:
Keratin-associated protein 4-2 (Keratin-associated protein 4.2) (Ultrahigh sulfur keratin-associated protein 4.2)

sequence:
MVNSCCGSVCSDQGCGLENCCRPSCCQTTCCRTTCCRPSCCVSSCCRPQCCQSVCCQPTCCSPSCCQTTCCRTTCCRPSCCVSSCFRPQCCQSVYCQPTCCRPSCGQTTCCRTTCYRPSCCVSTCCRPTCSSGSCC

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; hair cycle [GO:0042633]; keratinization [GO:0031424]


uniprotID: Q86VI4
geneSymbol: LAPTM4B
name: Lysosomal-associated transmembrane protein 4B (Lysosome-associated transmembrane protein 4-beta)
length: 317
go: ENSG00000104341;
sequence:

opentargets:
cell projection [GO:0042995]; early endosome [GO:0005769]; endosome [GO:0005768]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; multivesicular body membrane [GO:0032585]; multivesicular body, internal vesicle [GO:0097487]; plasma membrane [GO:0005886]; ceramide binding [GO:0097001]; kinase binding [GO:0019900]; phosphatidylinositol bisphosphate binding [GO:1902936]; ubiquitin protein ligase binding [GO:0031625]; endosome organization [GO:0007032]; endosome transport via multivesicular body sorting pathway [GO:0032509]; negative regulation of lysosomal protein catabolic process [GO:1905166]; negative regulation of transforming growth factor beta1 production [GO:0032911]; regulation of lysosomal membrane permeability [GO:0097213]; regulation of lysosome organization [GO:1905671]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VI4-3; Sequence=Displayed; Name=2; IsoId=Q86VI4-2; Sequence=VSP_059831; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:12902989}; Multi-pass membrane protein {ECO:0000269|PubMed:12902989}. Late endosome membrane {ECO:0000269|PubMed:21224396, ECO:0000269|PubMed:22096579, ECO:0000269|PubMed:25588945}. Cell membrane {ECO:0000269|PubMed:22096579}. Cell projection {ECO:0000269|PubMed:22096579}. Lysosome membrane {ECO:0000269|PubMed:21224396, ECO:0000269|PubMed:22096579}. Endosome membrane. Endosome, multivesicular body membrane {ECO:0000269|PubMed:26280656}. Endosome, multivesicular body lumen {ECO:0000269|PubMed:26280656}.


uniprotID: Q5T751
geneSymbol: LCE1C
reactome: R-HSA-6809371;
name: Late cornified envelope protein 1C (Late envelope protein 3)
length: 118
go: ENSG00000197084;
snps: rs2006940
sequence:
MSCQQSQQQCQPPPKCTPKCPPKCPTPKCPPKCPPKCPPVSSCCSVSSGGCCGSSSGGSCGSSSGGCCSSGGGGCCLSHHRRRRSHCHRPQSSGCCSQPSGGSSCCGGGSGQHSGGCC


uniprotID: P47929
geneSymbol: LGALS7; LGALS7B
pdb: 1BKZ;2GAL;3GAL;3ZXE;3ZXF;4GAL;4UW3;4UW4;4UW5;4UW6;4XBQ;4Y26;5GAL;5H9Q;5H9S;
name: Galectin-7 (Gal-7) (HKL-14) (PI7) (p53-induced gene 1 protein)
length: 136
go: ENSG00000178934;ENSG00000205076;
drug: DB02678;DB02379;
sequence:
MSNVPHKSSLPEGIRPGTVLRIRGLVPPNASRFHVNLLCGEEQGSDAALHFNPRLDTSEVVFNSKEQGSWGREERGPGVPFQRGQPFEVLIIASDDGFKAVVGDAQYHHFRHRLPLARVRLVEVGGDVQLDSVRIF

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; nucleus [GO:0005634]; carbohydrate binding [GO:0030246]; apoptotic process [GO:0006915]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11706006}. Nucleus {ECO:0000269|PubMed:11706006}. Secreted {ECO:0000305}. Note=May be secreted by a non-classical secretory pathway.


uniprotID: P06239
geneSymbol: LCK
length: 509
go: ENSG00000182866;
drug: DB06925;DB01254;DB09079;DB04395;DB08901;DB02010;
snps: rs11567841 rs587777335
reactome:
R-HSA-114604;R-HSA-1257604;R-HSA-1433557;R-HSA-1433559;R-HSA-164944;R-HSA-167590;R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-210990;R-HSA-2219530;R-HSA-2424491;R-HSA-389356;R-HSA-389357;R-HSA-389359;R-HSA-389513;R-HSA-389948;R-HSA-6811558;R-HSA-9020558;

pdb:
1BHF;1BHH;1CWD;1CWE;1FBZ;1H92;1IJR;1KIK;1LCJ;1LCK;1LKK;1LKL;1Q68;1Q69;1QPC;1QPD;1QPE;1QPJ;1X27;2IIM;2OF2;2OF4;2OFU;2OFV;2OG8;2PL0;2ZM1;2ZM4;2ZYB;3AC1;3AC2;3AC3;3AC4;3AC5;3AC8;3ACJ;3ACK;3AD4;3AD5;3AD6;3B2W;3BRH;3BYM;3BYO;3BYS;3BYU;3KMM;3KXZ;3LCK;3MPM;4C3F;4D8K;5MTM;5MTN;

name:
Tyrosine-protein kinase Lck (EC 2.7.10.2) (Leukocyte C-terminal Src kinase) (LSK) (Lymphocyte cell-specific protein-tyrosine kinase) (Protein YT16) (Proto-oncogene Lck) (T cell-specific protein-tyrosine kinase) (p56-LCK)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; immunological synapse [GO:0001772]; membrane raft [GO:0045121]; pericentriolar material [GO:0000242]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase binding [GO:0051117]; CD4 receptor binding [GO:0042609]; CD8 receptor binding [GO:0042610]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphatidylinositol 3-kinase binding [GO:0043548]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; phosphotyrosine residue binding [GO:0001784]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine kinase activity [GO:0004713]; SH2 domain binding [GO:0042169]; signaling receptor binding [GO:0005102]; T cell receptor binding [GO:0042608]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; B cell receptor signaling pathway [GO:0050853]; cell differentiation [GO:0030154]; cellular zinc ion homeostasis [GO:0006882]; hemopoiesis [GO:0030097]; leukocyte migration [GO:0050900]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; platelet activation [GO:0030168]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of leukocyte cell-cell adhesion [GO:1903039]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of T cell activation [GO:0050870]; positive regulation of T cell receptor signaling pathway [GO:0050862]; protein phosphorylation [GO:0006468]; regulation of defense response to virus by virus [GO:0050690]; regulation of lymphocyte activation [GO:0051249]; release of sequestered calcium ion into cytosol [GO:0051209]; response to drug [GO:0042493]; T cell costimulation [GO:0031295]; T cell differentiation [GO:0030217]; T cell receptor signaling pathway [GO:0050852]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=P06239-1; Sequence=Displayed; Name=Short; IsoId=P06239-2; Sequence=VSP_005000, VSP_005001; Note=No experimental confirmation available.; Name=3; IsoId=P06239-3; Sequence=VSP_016049; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12218089}. Cell membrane {ECO:0000269|PubMed:12218089}; Lipid-anchor {ECO:0000269|PubMed:12218089}; Cytoplasmic side {ECO:0000269|PubMed:12218089}. Note=Present in lipid rafts in an inactive form.


uniprotID: Q9BTC8
geneSymbol: MTA3
reactome: R-HSA-3214815;R-HSA-427389;R-HSA-73762;R-HSA-8943724;
name: Metastasis-associated protein MTA3
length: 594
go: ENSG00000057935;
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; protein-containing complex binding [GO:0044877]; RNA polymerase II repressing transcription factor binding [GO:0001103]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; histone deacetylation [GO:0016575]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BTC8-1; Sequence=Displayed; Name=2; IsoId=Q9BTC8-2; Sequence=VSP_001603, VSP_001604; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00512, ECO:0000255|PROSITE-ProRule:PRU00624, ECO:0000269|PubMed:12705869}.


uniprotID: Q2VYF4
geneSymbol: LETM2
length: 491
go: ENSG00000165046;
name:
LETM1 domain-containing protein LETM2, mitochondrial (LETM1 and EF-hand domain-containing protein 2) (Leucine zipper-EF-hand-containing transmembrane protein 1-like)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; ribosome binding [GO:0043022]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q2VYF4-1; Sequence=Displayed; Name=2; IsoId=Q2VYF4-2; Sequence=VSP_028589; Name=3; IsoId=Q2VYF4-3; Sequence=VSP_028589, VSP_028590; Name=4; IsoId=Q2VYF4-4; Sequence=VSP_028588, VSP_028591; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.


uniprotID: Q6PKG0
geneSymbol: LARP1
pdb: 4ZC4;5C0V;5V4R;5V7C;5V87;
name: La-related protein 1 (La ribonucleoprotein domain family member 1)
length: 1096
go: ENSG00000155506;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; membrane [GO:0016020]; cadherin binding [GO:0045296]; eukaryotic initiation factor 4E binding [GO:0008190]; mRNA 3'-UTR binding [GO:0003730]; mRNA 5'-UTR binding [GO:0048027]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; translation activator activity [GO:0008494]; translation initiation factor binding [GO:0031369]; cell proliferation [GO:0008283]; cellular response to rapamycin [GO:0072752]; mRNA stabilization [GO:0048255]; negative regulation of translation [GO:0017148]; positive regulation of macroautophagy [GO:0016239]; positive regulation of viral genome replication [GO:0045070]; response to amino acid starvation [GO:1990928]; TOR signaling [GO:0031929]; TORC1 signaling [GO:0038202]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PKG0-1; Sequence=Displayed; Name=2; IsoId=Q6PKG0-3; Sequence=VSP_015114, VSP_015115; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20430826, ECO:0000269|PubMed:24532714}. Cytoplasmic granule {ECO:0000269|PubMed:25940091}. Note=Colocalizes with RPTOR and PABPC1 in cytoplasmic granules that resemble stress granules. {ECO:0000269|PubMed:25940091}.


uniprotID: Q14739
geneSymbol: LBR
reactome: R-HSA-191273;
pdb: 2DIG;
name: Lamin-B receptor (Integral nuclear envelope inner membrane protein) (LMN2R)
length: 615
go: ENSG00000143815;
location: SUBCELLULAR LOCATION: Nucleus inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of nuclear inner membrane [GO:0005639]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; nuclear membrane [GO:0031965]; chromo shadow domain binding [GO:0070087]; delta14-sterol reductase activity [GO:0050613]; DNA binding [GO:0003677]; lamin binding [GO:0005521]; RNA binding [GO:0003723]; cholesterol biosynthetic process [GO:0006695]; sterol biosynthetic process [GO:0016126]

snps:
rs869312905 rs137852605 rs2230419 rs2230420 rs2275601 rs200180113 rs374343844 rs137852606 rs573510559 


uniprotID: A0A075B6S6
geneSymbol: IGKV2D-30
name: Immunoglobulin kappa variable 2D-30
length: 120
sequence:
MRLPAQLLGLLMLWVPGSSGDVVMTQSPLSLPVTLGQPASISCRSSQSLVYSDGNTYLNWFQQRPGQSPRRLIYKVSNWDSGVPDRFSGSGSGTDFTLKISRVEAEDVGVYYCMQGTHWP


uniprotID: Q9H9P8
geneSymbol: L2HGDH
reactome: R-HSA-880009;
name: L-2-hydroxyglutarate dehydrogenase, mitochondrial (EC 1.1.99.2) (Duranin)
length: 463
go: ENSG00000087299;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16005139}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of mitochondrial inner membrane [GO:0031305]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; (S)-2-hydroxy-acid oxidase activity [GO:0003973]; 2-hydroxyglutarate dehydrogenase activity [GO:0047545]; 2-oxoglutarate metabolic process [GO:0006103]; cellular protein metabolic process [GO:0044267]

snps:
rs2275591 rs35710558 rs118204021 rs199690954 rs970541687 rs267607206 rs770542189 rs118204020 rs750044734 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H9P8-1; Sequence=Displayed; Name=2; IsoId=Q9H9P8-2; Sequence=VSP_017662, VSP_017663; Note=No experimental confirmation available.; 


uniprotID: Q6ZMR3
geneSymbol: LDHAL6A
reactome: R-HSA-70268;
name: L-lactate dehydrogenase A-like 6A (EC 1.1.1.27)
length: 332
go: ENSG00000166800;
drug: DB00157;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18351441}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; L-lactate dehydrogenase activity [GO:0004459]; carbohydrate metabolic process [GO:0005975]; carboxylic acid metabolic process [GO:0019752]


uniprotID: O43561
geneSymbol: LAT
reactome: R-HSA-114604;R-HSA-202433;R-HSA-2424491;R-HSA-2454202;R-HSA-2871796;R-HSA-2871809;R-HSA-5673001;
length: 262
go: ENSG00000213658;
name:
Linker for activation of T-cells family member 1 (36 kDa phospho-tyrosine adapter protein) (pp36) (p36-38)

sequence:

opentargets:
cell-cell junction [GO:0005911]; COP9 signalosome [GO:0008180]; Golgi apparatus [GO:0005794]; immunological synapse [GO:0001772]; integral component of membrane [GO:0016021]; mast cell granule [GO:0042629]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; protein kinase binding [GO:0019901]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; SH3/SH2 adaptor activity [GO:0005070]; adaptive immune response [GO:0002250]; calcium-mediated signaling [GO:0019722]; Fc-epsilon receptor signaling pathway [GO:0038095]; gene expression [GO:0010467]; immune response [GO:0006955]; inflammatory response [GO:0006954]; integrin-mediated signaling pathway [GO:0007229]; intracellular signal transduction [GO:0035556]; lymphocyte homeostasis [GO:0002260]; MAPK cascade [GO:0000165]; mast cell degranulation [GO:0043303]; positive regulation of protein kinase activity [GO:0045860]; Ras protein signal transduction [GO:0007265]; regulation of T cell activation [GO:0050863]; T cell activation [GO:0042110]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Long; IsoId=O43561-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O43561-2; Sequence=VSP_004303; Name=3; IsoId=O43561-3; Sequence=VSP_054758, VSP_004303; Note=Gene prediction based on EST data.; Name=4; IsoId=O43561-4; Sequence=VSP_054759, VSP_004303; Name=5; IsoId=O43561-5; Sequence=VSP_054759; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9489702, ECO:0000269|PubMed:9729044}; Single-pass type III membrane protein {ECO:0000269|PubMed:9489702, ECO:0000269|PubMed:9729044}. Note=Present in lipid rafts.


uniprotID: Q6P5S2
geneSymbol: LEG1
name: Protein LEG1 homolog
length: 330
go: ENSG00000184530;
snps: rs9491833
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:A5PF61, ECO:0000250|UniProtKB:Q4QRF7}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; multicellular organism development [GO:0007275]


uniprotID: Q15334
geneSymbol: LLGL1
length: 1064
go: ENSG00000131899;
snps: rs2290505 rs1063683
name:
Lethal(2) giant larvae protein homolog 1 (LLGL) (DLG4) (Hugl-1) (Human homolog to the D-lgl gene protein)

sequence:

opentargets:
axon [GO:0030424]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; early endosome membrane [GO:0031901]; Golgi cis cisterna [GO:0000137]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; GTPase activator activity [GO:0005096]; protein kinase binding [GO:0019901]; Rab GTPase binding [GO:0017137]; structural molecule activity [GO:0005198]; axonogenesis [GO:0007409]; cortical actin cytoskeleton organization [GO:0030866]; establishment of spindle orientation [GO:0051294]; exocytosis [GO:0006887]; Golgi to plasma membrane transport [GO:0006893]; protein-containing complex assembly [GO:0065003]; regulation of establishment or maintenance of cell polarity [GO:0032878]

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000250}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}. Cell projection, axon {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12725730, ECO:0000269|PubMed:7542763}. Note=Localized to the lateral membrane during the polarization and formation cell-cell contacts. Enriched in developping axons (By similarity). {ECO:0000250}.


uniprotID: P55268
geneSymbol: LAMB2
reactome: R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-381426;R-HSA-8874081;R-HSA-8957275;
length: 1798
go: ENSG00000172037;
snps: rs387906644 rs121912491 rs121912488 rs121912492 rs34759087 rs267607207 rs267607208
name:
Laminin subunit beta-2 (Laminin B1s chain) (Laminin-11 subunit beta) (Laminin-14 subunit beta) (Laminin-15 subunit beta) (Laminin-3 subunit beta) (Laminin-4 subunit beta) (Laminin-7 subunit beta) (Laminin-9 subunit beta) (S-laminin subunit beta) (S-LAM beta)

sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; laminin-11 complex [GO:0043260]; laminin-3 complex [GO:0005608]; neuromuscular junction [GO:0031594]; synaptic cleft [GO:0043083]; extracellular matrix structural constituent [GO:0005201]; integrin binding [GO:0005178]; structural molecule activity [GO:0005198]; astrocyte development [GO:0014002]; axon extension involved in regeneration [GO:0048677]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; cellular protein metabolic process [GO:0044267]; extracellular matrix organization [GO:0030198]; metanephric glomerular basement membrane development [GO:0072274]; metanephric glomerular visceral epithelial cell development [GO:0072249]; neuromuscular junction development [GO:0007528]; post-translational protein modification [GO:0043687]; retina development in camera-type eye [GO:0060041]; Schwann cell development [GO:0014044]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.


uniprotID: Q9Y4W2
geneSymbol: LAS1L
reactome: R-HSA-6791226;
name: Ribosomal biogenesis protein LAS1L (Protein LAS1 homolog)
length: 734
go: ENSG00000001497;
snps: rs1371889606 rs1057518699
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; MLL1 complex [GO:0071339]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; preribosome, large subunit precursor [GO:0030687]; RNA binding [GO:0003723]; maturation of 5.8S rRNA [GO:0000460]; maturation of LSU-rRNA [GO:0000470]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y4W2-1; Sequence=Displayed; Name=2; IsoId=Q9Y4W2-2; Sequence=VSP_015181; Name=3; IsoId=Q9Y4W2-3; Sequence=VSP_015178, VSP_015181; Note=Gene prediction based on EST data. No experimental confirmation available.; Name=4; IsoId=Q9Y4W2-4; Sequence=VSP_015179, VSP_015180; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:20647540}. Nucleus, nucleoplasm {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Mainly found in the nucleoplasm, with low levels detected in the cytoplasmic and chromatin fractions (By similarity). Localizes mainly to the granular component, the region implicated in the later steps of rRNA processing and subunit assembly and export. {ECO:0000250}.


uniprotID: Q9NPI7
geneSymbol: KRCC1
name: Lysine-rich coiled-coil protein 1 (Cryptogenic hepatitis-binding protein 2)
length: 259
go: ENSG00000172086;
sequence:


uniprotID: P01619
geneSymbol: IGKV3-20
pdb: 1DH5;4LRN;4M62;4M8Q;4OB5;4ODX;
length: 116
go: ENSG00000239951;
name:
Immunoglobulin kappa variable 3-20 (Ig kappa chain V-III region B6) (Ig kappa chain V-III region GOL) (Ig kappa chain V-III region HAH) (Ig kappa chain V-III region HIC) (Ig kappa chain V-III region IARC/BL41) (Ig kappa chain V-III region NG9) (Ig kappa chain V-III region SIE) (Ig kappa chain V-III region Ti) (Ig kappa chain V-III region WOL)

sequence:
METPAQLLFLLLLWLPDTTGEIVLTQSPGTLSLSPGERATLSCRASQSVSSSYLAWYQQKPGQAPRLLIYGASSRATGIPDRFSGSGSGTDFTLTISRLEPEDFAVYYCQQYGSSP

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; monomeric IgA immunoglobulin complex [GO:0071748]; pentameric IgM immunoglobulin complex [GO:0071756]; plasma membrane [GO:0005886]; secretory IgA immunoglobulin complex [GO:0071751]; antigen binding [GO:0003823]; serine-type endopeptidase activity [GO:0004252]; antibacterial humoral response [GO:0019731]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; glomerular filtration [GO:0003094]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: Q86WU2
geneSymbol: LDHD
reactome: R-HSA-1268020;
name: Probable D-lactate dehydrogenase, mitochondrial (DLD) (Lactate dehydrogenase D) (EC 1.1.2.4)
length: 507
go: ENSG00000166816;
snps: rs11644820
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q7TNG8}.
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; D-lactate dehydrogenase (cytochrome) activity [GO:0004458]; D-lactate dehydrogenase activity [GO:0008720]; FAD binding [GO:0071949]; flavin adenine dinucleotide binding [GO:0050660]; lactate catabolic process [GO:1903457]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15489334}; IsoId=Q86WU2-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:12127981}; IsoId=Q86WU2-2; Sequence=VSP_052253; 


uniprotID: Q86VQ0
geneSymbol: LCA5
name: Lebercilin (Leber congenital amaurosis 5 protein)
length: 697
go: ENSG00000135338;
snps: rs2655655 rs34068461 rs35338066 rs35415141 rs1875845
sequence:

opentargets:
axoneme [GO:0005930]; cilium [GO:0005929]; microtubule organizing center [GO:0005815]; protein-containing complex binding [GO:0044877]; intraciliary transport [GO:0042073]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17546029}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:17546029}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:17546029}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17546029}. Note=In non- ciliated cells, localizes to the centrosome and its associated microtubule array.


uniprotID: Q9BQE6
geneSymbol: LBHD1
name: LBH domain-containing protein 1
length: 289
go: ENSG00000162194;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQE6-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9BQE6-2; Sequence=VSP_024545; Note=No experimental confirmation available.; 


uniprotID: P04432
geneSymbol: IGKV1D-39
name: Immunoglobulin kappa variable 1D-39 (Ig kappa chain V-I region Daudi)
length: 117
go: ENSG00000242371;ENSG00000251546;
sequence:
MDMRVPAQLLGLLLLWLRGARCDIQMTQSPSSLSASVGDRVTITCRASQSISSYLNWYQQKPGKAPKLLIYAASSLQSGVPSRFSGSGSGTDFTLTISSLQPEDFATYYCQQSYSTP


uniprotID: A6NCN2
geneSymbol: KRT87P
name: Putative keratin-87 protein (Keratin, hair, basic pseudogene 4) (Keratin-121 pseudogene)
length: 255
sequence:

opentargets:
extracellular space [GO:0005615]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]


uniprotID: Q9BYR3
geneSymbol: KRTAP4-4
reactome: R-HSA-6805567;
length: 166
go: ENSG00000171396;
snps: rs385055 rs444509 rs366700
name:
Keratin-associated protein 4-4 (Keratin-associated protein 4-13) (Keratin-associated protein 4.13) (Keratin-associated protein 4.4) (Ultrahigh sulfur keratin-associated protein 4.13) (Ultrahigh sulfur keratin-associated protein 4.4)

sequence:
MVNSCCGSVCSDQGCGLENCCRPSYCQTTCCRTTCCRPSCCVSSCCRPQCCQTTCCRTTCCHPSCCVSSCCRPQCCQSVCCQPTCCRPQCCQTTCCRTTCCRPSCCRPQCCQSVCCQPTCCCPSYCVSSCCRPQCCQTTCCRTTCCRPSCCVSRCYRPHCGQSLCC

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; hair cycle [GO:0042633]; keratinization [GO:0031424]


uniprotID: Q9H6V9
geneSymbol: LDAH
name: Lipid droplet-associated hydrolase (EC 3.1.1.-) (Lipid droplet-associated serine hydrolase) (hLDAH)
length: 325
go: ENSG00000118961;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; lipid droplet [GO:0005811]; lipase activity [GO:0016298]; lipid catabolic process [GO:0016042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H6V9-1; Sequence=Displayed; Name=2; IsoId=Q9H6V9-2; Sequence=VSP_042202; Name=3; IsoId=Q9H6V9-3; Sequence=VSP_054624; Note=No experimental confirmation available.; Name=4; IsoId=Q9H6V9-4; Sequence=VSP_055283; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lipid droplet {ECO:0000269|PubMed:17135363}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q8BVA5}. Note=Localizes to the endoplasmic reticulum in absence of lipid droplets and translocates to lipid droplets upon lipid storage induction. {ECO:0000250|UniProtKB:Q8BVA5}.


uniprotID: Q9UJQ1
geneSymbol: LAMP5
length: 280
go: ENSG00000125869;
snps: rs2232259 rs2232263 rs2232264 rs2232266
name:
Lysosome-associated membrane glycoprotein 5 (Brain and dendritic cell-associated LAMP) (Brain-associated LAMP-like protein) (BAD-LAMP) (Lysosome-associated membrane protein 5) (LAMP-5)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasmic vesicle membrane [GO:0030659]; dendrite membrane [GO:0032590]; early endosome membrane [GO:0031901]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; endosome membrane [GO:0010008]; growth cone membrane [GO:0032584]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; synaptic vesicle membrane [GO:0030672]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJQ1-1; Sequence=Displayed; Name=2; IsoId=Q9UJQ1-2; Sequence=VSP_037186; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21642595}; Single-pass type I membrane protein {ECO:0000269|PubMed:21642595}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q9D387}; Single-pass type I membrane protein {ECO:0000305}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:21642595}; Single-pass type I membrane protein {ECO:0000269|PubMed:21642595}. Endosome membrane {ECO:0000269|PubMed:21642595}; Single-pass type I membrane protein {ECO:0000269|PubMed:21642595}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q9D387}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q9D387}. Cell projection, growth cone membrane {ECO:0000250|UniProtKB:Q9D387}; Single-pass type I membrane protein {ECO:0000305}. Early endosome membrane {ECO:0000250|UniProtKB:Q9D387}; Single-pass type I membrane protein {ECO:0000305}. Recycling endosome {ECO:0000250|UniProtKB:Q9D387}. Note=Recycles from the vesicles of the endocytic recycling compartment (ERC) to the plasma membrane (By similarity). Colocalizes with UNC93B1 in large endosomal intracellular vesicles (PubMed:21642595). Accumulates in the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) before its disappearance upon activation by CpG dinucleotides (PubMed:21642595). Associates with cortical membranes (PubMed:21642595). Localizes mostly in cytoplasmic vesicles of neuronal cell body (By similarity). Localizes to synaptic vesicles in a subset of GABAergic neurons (By similarity). {ECO:0000250|UniProtKB:Q9D387, ECO:0000269|PubMed:21642595}.


uniprotID: Q96DT0
geneSymbol: LGALS12
name: Galectin-12 (Gal-12) (Galectin-related inhibitor of proliferation)
length: 336
go: ENSG00000133317;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleus [GO:0005634]; lactose binding [GO:0030395]; intrinsic apoptotic signaling pathway [GO:0097193]; regulation of fat cell differentiation [GO:0045598]; regulation of lipid catabolic process [GO:0050994]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=A; IsoId=Q96DT0-1; Sequence=Displayed; Name=B; Synonyms=GRIP1a; IsoId=Q96DT0-2; Sequence=VSP_003100; Name=C; IsoId=Q96DT0-3; Sequence=VSP_003102; Name=D; IsoId=Q96DT0-4; Sequence=VSP_003100, VSP_003102; Name=E; Synonyms=1; IsoId=Q96DT0-5; Sequence=VSP_003099; Name=F; Synonyms=2; IsoId=Q96DT0-6; Sequence=VSP_003099, VSP_003101; Name=G; IsoId=Q96DT0-7; Sequence=VSP_003101; 


uniprotID: P52954
geneSymbol: LBX1
name: Transcription factor LBX1 (Ladybird homeobox protein homolog 1)
length: 281
go: ENSG00000138136;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; heart looping [GO:0001947]; muscle organ development [GO:0007517]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron differentiation [GO:0045665]; neuron fate determination [GO:0048664]; regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification [GO:0021920]; spinal cord motor neuron differentiation [GO:0021522]


uniprotID: O75610
geneSymbol: LEFTY1
reactome: R-HSA-1181150;R-HSA-1433617;
length: 366
go: ENSG00000243709;
snps: rs35273824 rs145431393 rs191758097 rs360057
location: SUBCELLULAR LOCATION: Secreted.
name:
Left-right determination factor 1 (Left-right determination factor B) (Protein lefty-1) (Protein lefty-B)

sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; cell development [GO:0048468]; determination of left/right symmetry [GO:0007368]; heart morphogenesis [GO:0003007]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]


uniprotID: Q9HBX8
geneSymbol: LGR6
reactome: R-HSA-4641263;
name: Leucine-rich repeat-containing G-protein coupled receptor 6
length: 967
go: ENSG00000133067;
snps: rs7553800 rs6668765 rs788795
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; vesicle [GO:0031982]; protein-hormone receptor activity [GO:0016500]; transmembrane signaling receptor activity [GO:0004888]; bone regeneration [GO:1990523]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell migration [GO:0030335]; positive regulation of Wnt signaling pathway [GO:0030177]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q9HBX8-3; Sequence=Displayed; Name=1; IsoId=Q9HBX8-1; Sequence=VSP_028006, VSP_028007; Name=2; IsoId=Q9HBX8-2; Sequence=VSP_013596; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22615920}; Multi-pass membrane protein {ECO:0000269|PubMed:22615920}.


uniprotID: Q8N135
geneSymbol: LGI4
reactome: R-HSA-5682910;
length: 537
go: ENSG00000153902;
snps: rs755500591 rs1064797094
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Leucine-rich repeat LGI family member 4 (LGI1-like protein 3) (Leucine-rich glioma-inactivated protein 4)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; adult locomotory behavior [GO:0008344]; glial cell proliferation [GO:0014009]; myelination in peripheral nervous system [GO:0022011]; neuron maturation [GO:0042551]; regulation of myelination [GO:0031641]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N135-1; Sequence=Displayed; Name=2; IsoId=Q8N135-2; Sequence=VSP_009230, VSP_009231; 


uniprotID: Q99538
geneSymbol: LGMN
reactome: R-HSA-1679131;R-HSA-196791;R-HSA-2132295;
pdb: 4AW9;4AWA;4AWB;4FGU;4N6N;4N6O;5LU8;5LU9;5LUA;5LUB;
name: Legumain (EC 3.4.22.34) (Asparaginyl endopeptidase) (Protease, cysteine 1)
length: 433
go: ENSG00000100600;
snps: rs2236264
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000250}.
sequence:

opentargets:
apical part of cell [GO:0045177]; cytoplasm [GO:0005737]; endolysosome lumen [GO:0036021]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; late endosome [GO:0005770]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; perinuclear region of cytoplasm [GO:0048471]; cysteine-type endopeptidase activity [GO:0004197]; peptidase activity [GO:0008233]; activation of cysteine-type endopeptidase activity [GO:0097202]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; associative learning [GO:0008306]; cellular response to amyloid-beta [GO:1904646]; cellular response to calcium ion [GO:0071277]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; dendritic spine organization [GO:0097061]; memory [GO:0007613]; negative regulation of ERBB signaling pathway [GO:1901185]; negative regulation of gene expression [GO:0010629]; negative regulation of multicellular organism growth [GO:0040015]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of monocyte chemotaxis [GO:0090026]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; receptor catabolic process [GO:0032801]; renal system process [GO:0003014]; response to acidic pH [GO:0010447]; self proteolysis [GO:0097264]; vacuolar protein processing [GO:0006624]; vitamin D metabolic process [GO:0042359]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99538-1; Sequence=Displayed; Name=2; IsoId=Q99538-2; Sequence=VSP_056454; Note=No experimental confirmation available.; Name=3; IsoId=Q99538-3; Sequence=VSP_056455, VSP_056456; Note=No experimental confirmation available.; 


uniprotID: Q8ND30
geneSymbol: PPFIBP2
reactome: R-HSA-388844;
pdb: 3QH9;
length: 876
go: ENSG00000166387;
snps: rs4758209
name:
Liprin-beta-2 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2) (PTPRF-interacting protein-binding protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; intracellular [GO:0005622]; presynapse [GO:0098793]; identical protein binding [GO:0042802]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8ND30-1; Sequence=Displayed; Name=2; IsoId=Q8ND30-2; Sequence=VSP_047383, VSP_047384; Name=3; IsoId=Q8ND30-3; Sequence=VSP_047382, VSP_047385; Note=Gene prediction based on EST data.; 


uniprotID: Q96S19
geneSymbol: METTL26
name: Methyltransferase-like 26
length: 204
go: ENSG00000130731;
snps: rs865791888
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96S19-1; Sequence=Displayed; Name=2; IsoId=Q96S19-2; Sequence=VSP_033918; Name=3; IsoId=Q96S19-3; Sequence=VSP_033919; Note=No experimental confirmation available.; Name=4; IsoId=Q96S19-4; Sequence=VSP_045804; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q96S19-5; Sequence=VSP_046838; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=6; IsoId=Q96S19-6; Sequence=VSP_046839; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9Y4I5
geneSymbol: TESMIN
name: Tesmin (Metallothionein-like 5, testis-specific) (Testis-specific metallothionein-like protein)
length: 508
go: ENSG00000132749;
snps: rs12365708 rs35773957
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; cell differentiation [GO:0030154]; cellular metal ion homeostasis [GO:0006875]; multicellular organism development [GO:0007275]; response to metal ion [GO:0010038]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y4I5-1; Sequence=Displayed; Name=2; IsoId=Q9Y4I5-2; Sequence=VSP_035299; Name=3; IsoId=Q9Y4I5-3; Sequence=VSP_035297, VSP_035298; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9WTJ6}. Nucleus {ECO:0000250|UniProtKB:Q9WTJ6}. Note=Predominantly localized to the cytoplasm. Translocates from the cytoplasm to the nucleus in the G2/M transition upon treatment with cadmium, cobalt or zinc. {ECO:0000250|UniProtKB:Q9WTJ6}.


uniprotID: Q8NCU8
geneSymbol: MTLN
name: Mitoregulin (Small integral membrane protein 37)
sequence: MADVSERTLQLSVLVAFASGVLLGWQANRLRRRYLDWRKRRLQDKLAATQKKLDLA
length: 56
go: ENSG00000175701;
opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; positive regulation of mitochondrial membrane potential [GO:0010918]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of sequestering of calcium ion [GO:0051284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=Short; IsoId=Q8NCU8-2; Sequence=Displayed; Name=Long; IsoId=Q8NCU8-1; Sequence=VSP_059832; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q8BT35}; Single-pass membrane protein {ECO:0000305}. Note=Preferentially binds to cardiolipin relative to other common cell membrane lipids. {ECO:0000250|UniProtKB:Q8BT35}.


uniprotID: Q13496
geneSymbol: MTM1
reactome: R-HSA-1660499;R-HSA-1660516;R-HSA-1660517;
length: 603
go: ENSG00000171100;
name:
Myotubularin (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.1.3.95) (Phosphatidylinositol-3-phosphate phosphatase) (EC 3.1.3.64)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; filopodium [GO:0030175]; I band [GO:0031674]; late endosome [GO:0005770]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; intermediate filament binding [GO:0019215]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; phosphoprotein phosphatase activity [GO:0004721]; protein tyrosine phosphatase activity [GO:0004725]; endosome to lysosome transport [GO:0008333]; intermediate filament organization [GO:0045109]; mitochondrion distribution [GO:0048311]; mitochondrion morphogenesis [GO:0070584]; muscle cell cellular homeostasis [GO:0046716]; negative regulation of autophagosome assembly [GO:1902902]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of TOR signaling [GO:0032007]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; positive regulation of skeletal muscle tissue growth [GO:0048633]; protein dephosphorylation [GO:0006470]; protein transport [GO:0015031]; regulation of vacuole organization [GO:0044088]

snps:
rs587783796 rs132630304 rs587783809 rs587783816 rs132630307 rs587783832 rs587783835 rs587783836 rs132630302 rs587783841 rs587783848 rs587783850 rs587783851 rs132630305 rs587783856 rs587783754 rs587783755 rs587783759 rs132630303 rs587783762 rs781933660 rs587783764 rs587783772 rs886044782 rs886044783 rs587783801 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13496-1; Sequence=Displayed; Name=2; IsoId=Q13496-2; Sequence=VSP_056208; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925}. Cell membrane; Peripheral membrane protein {ECO:0000269|PubMed:11001925}. Cell projection, filopodium {ECO:0000269|PubMed:12118066}. Cell projection, ruffle {ECO:0000269|PubMed:12118066}. Late endosome {ECO:0000269|PubMed:14722070}. Note=Localizes as a dense cytoplasmic network. Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles. Predominantly located in the cytoplasm following interaction with MTMR12. Recruited to the late endosome following EGF stimulation. {ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066}.


uniprotID: Q13613
geneSymbol: MTMR1
reactome: R-HSA-1660499;
pdb: 5C16;
length: 665
go: ENSG00000063601;
name:
Myotubularin-related protein 1 (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.1.3.95) (Phosphatidylinositol-3-phosphate phosphatase) (EC 3.1.3.64)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; protein homodimerization activity [GO:0042803]; protein tyrosine phosphatase activity [GO:0004725]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; regulation of phosphatidylinositol dephosphorylation [GO:0060304]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13613-1; Sequence=Displayed; Name=1A; IsoId=Q13613-2; Sequence=VSP_005169, VSP_005170; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9Z2C4}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9Z2C4}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9Z2C4}. Cytoplasm {ECO:0000250|UniProtKB:Q9Z2C4}.


uniprotID: Q13614
geneSymbol: MTMR2
reactome: R-HSA-1483248;R-HSA-1660499;R-HSA-1660516;R-HSA-1660517;
pdb: 1LW3;1M7R;1ZSQ;1ZVR;5GNH;
length: 643
go: ENSG00000087053;
snps: rs3824874 rs558018
name:
Myotubularin-related protein 2 (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.1.3.95) (Phosphatidylinositol-3-phosphate phosphatase) (EC 3.1.3.64)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; early endosome membrane [GO:0031901]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; synaptic membrane [GO:0097060]; synaptic vesicle [GO:0008021]; vacuolar membrane [GO:0005774]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; protein homodimerization activity [GO:0042803]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; dendritic spine maintenance [GO:0097062]; inositol phosphate dephosphorylation [GO:0046855]; myelin assembly [GO:0032288]; negative regulation of endocytosis [GO:0045806]; negative regulation of excitatory postsynaptic potential [GO:0090394]; negative regulation of myelination [GO:0031642]; negative regulation of receptor catabolic process [GO:2000645]; negative regulation of receptor internalization [GO:0002091]; neuron development [GO:0048666]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; positive regulation of early endosome to late endosome transport [GO:2000643]; protein dephosphorylation [GO:0006470]; protein tetramerization [GO:0051262]; regulation of phosphatidylinositol dephosphorylation [GO:0060304]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13614-1; Sequence=Displayed; Name=2; IsoId=Q13614-2; Sequence=VSP_044933; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758}. Early endosome membrane {ECO:0000269|PubMed:21372139}; Peripheral membrane protein {ECO:0000269|PubMed:21372139}. Note=Partly associated with membranes. {ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:21372139, ECO:0000305}.


uniprotID: Q13615
geneSymbol: MTMR3
reactome: R-HSA-1632852;R-HSA-1660499;
length: 1198
go: ENSG00000100330;
name:
Myotubularin-related protein 3 (EC 3.1.3.48) (FYVE domain-containing dual specificity protein phosphatase 1) (FYVE-DSP1) (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.1.3.95) (Phosphatidylinositol-3-phosphate phosphatase) (EC 3.1.3.64) (Zinc finger FYVE domain-containing protein 10)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of membrane [GO:0019898]; membrane [GO:0016020]; metal ion binding [GO:0046872]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; protein phosphatase binding [GO:0019903]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; cellular response to glucose starvation [GO:0042149]; macroautophagy [GO:0016236]; phosphatidylinositol 5-phosphate metabolic process [GO:1904562]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; protein dephosphorylation [GO:0006470]; regulation of autophagosome assembly [GO:2000785]; regulation of phosphatidylinositol dephosphorylation [GO:0060304]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=B; Synonyms=FYVE-DSP1b; IsoId=Q13615-1; Sequence=Displayed; Name=A; Synonyms=FYVE-DSP1a; IsoId=Q13615-2; Sequence=VSP_007781, VSP_007782; Name=C; Synonyms=FYVE-DSP1c; IsoId=Q13615-3; Sequence=VSP_007781; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11676921}. Membrane {ECO:0000269|PubMed:11676921}; Peripheral membrane protein {ECO:0000269|PubMed:11676921}.


uniprotID: Q9NYA4
geneSymbol: MTMR4
reactome: R-HSA-1660516;R-HSA-1660517;R-HSA-2173788;
length: 1195
go: ENSG00000108389;
snps: rs3744108 rs2302190 rs2302189
name:
Myotubularin-related protein 4 (EC 3.1.3.48) (FYVE domain-containing dual specificity protein phosphatase 2) (FYVE-DSP2) (Zinc finger FYVE domain-containing protein 11)

sequence:

opentargets:
cytosol [GO:0005829]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; extracellular space [GO:0005615]; metal ion binding [GO:0046872]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; protein phosphatase binding [GO:0019903]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; phosphatidylinositol biosynthetic process [GO:0006661]; protein dephosphorylation [GO:0006470]; regulation of phosphatidylinositol dephosphorylation [GO:0060304]; response to denervation involved in regulation of muscle adaptation [GO:0014894]; transforming growth factor beta receptor signaling pathway [GO:0007179]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11302699}. Membrane {ECO:0000269|PubMed:11302699}; Peripheral membrane protein {ECO:0000269|PubMed:11302699}. Note=Localized to perinuclear region.


uniprotID: Q9Y216
geneSymbol: MTMR7
reactome: R-HSA-1660517;R-HSA-1855183;
name: Myotubularin-related protein 7 (EC 3.1.3.-)
length: 660
go: ENSG00000003987;
snps: rs7388581 rs3764796
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16787938}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; protein tyrosine phosphatase activity [GO:0004725]; inositol phosphate dephosphorylation [GO:0046855]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y216-1; Sequence=Displayed; Name=2; IsoId=Q9Y216-2; Sequence=VSP_017000, VSP_017001; 


uniprotID: Q96QG7
geneSymbol: MTMR9
reactome: R-HSA-1660499;R-HSA-1660517;R-HSA-1855183;
name: Myotubularin-related protein 9
length: 549
go: ENSG00000104643;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16787938}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; protein-containing complex [GO:0032991]; enzyme regulator activity [GO:0030234]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; protein phosphatase binding [GO:0019903]; negative regulation of autophagy [GO:0010507]; phosphatidylinositol biosynthetic process [GO:0006661]; positive regulation of phosphatase activity [GO:0010922]; protein stabilization [GO:0050821]; regulation of phosphatidylinositol dephosphorylation [GO:0060304]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96QG7-1; Sequence=Displayed; Name=2; IsoId=Q96QG7-2; Sequence=VSP_056209; Note=No experimental confirmation available.; 


uniprotID: Q9NXD2
geneSymbol: MTMR10
reactome: R-HSA-1660516;
name: Myotubularin-related protein 10
length: 777
go: ENSG00000166912;
opentargets: cytoplasm [GO:0005737]; cytosol [GO:0005829]
snps: rs6493352
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NXD2-1; Sequence=Displayed; Name=2; IsoId=Q9NXD2-2; Sequence=VSP_035774, VSP_024467, VSP_024468; Name=3; IsoId=Q9NXD2-3; Sequence=VSP_024465, VSP_024466; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q86WG5
geneSymbol: SBF2
reactome: R-HSA-1660499;R-HSA-8876198;
name: Myotubularin-related protein 13 (SET-binding factor 2)
length: 1849
go: ENSG00000133812;
snps: rs16907355 rs7102464 rs12574508
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; vacuolar membrane [GO:0005774]; phosphatase binding [GO:0019902]; phosphatase regulator activity [GO:0019208]; phosphatidylinositol binding [GO:0035091]; protein homodimerization activity [GO:0042803]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; myelination [GO:0042552]; protein tetramerization [GO:0051262]; regulation of GTPase activity [GO:0043087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86WG5-1; Sequence=Displayed; Name=3; IsoId=Q86WG5-3; Sequence=VSP_017157, VSP_017158; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15998640}. Membrane {ECO:0000269|PubMed:15998640}; Peripheral membrane protein {ECO:0000269|PubMed:15998640}. Note=Associated with membranes.


uniprotID: P07098
geneSymbol: LIPF
reactome: R-HSA-192456;
pdb: 1HLG;
name: Gastric triacylglycerol lipase (GL) (Gastric lipase) (EC 3.1.1.3)
length: 398
go: ENSG00000182333;
drug: DB01083;DB02457;
snps: rs814628 rs6586145 rs17333991
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; lipase activity [GO:0016298]; lipid binding [GO:0008289]; malate dehydrogenase activity [GO:0016615]; triglyceride lipase activity [GO:0004806]; cellular lipid metabolic process [GO:0044255]; lipid catabolic process [GO:0016042]; malate metabolic process [GO:0006108]; triglyceride metabolic process [GO:0006641]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P07098-1; Sequence=Displayed; Name=2; IsoId=P07098-2; Sequence=VSP_047296; Note=No experimental confirmation available.; Name=3; IsoId=P07098-3; Sequence=VSP_047295; Note=No experimental confirmation available.; Name=4; IsoId=P07098-4; Sequence=VSP_047295, VSP_047296; Note=No experimental confirmation available.; 


uniprotID: Q6XZB0
geneSymbol: LIPI
reactome: R-HSA-1483166;
length: 460
go: ENSG00000188992;
snps: rs11909217 rs74369337 rs2822432 rs7278737
name:
Lipase member I (LIPI) (EC 3.1.1.-) (Cancer/testis antigen 17) (CT17) (LPD lipase) (Membrane-associated phosphatidic acid-selective phospholipase A1-beta) (mPA-PLA1 beta)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; carboxylic ester hydrolase activity [GO:0052689]; heparin binding [GO:0008201]; phospholipase activity [GO:0004620]; lipid catabolic process [GO:0016042]; phosphatidic acid biosynthetic process [GO:0006654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=mPA-PLA1beta {ECO:0000303|PubMed:12963729}; IsoId=Q6XZB0-1; Sequence=Displayed; Name=2; Synonyms=mPA-PLA1alpha {ECO:0000303|PubMed:12963729}; IsoId=Q6XZB0-2; Sequence=VSP_016090; Name=3; Synonyms=deltaE7.2; IsoId=Q6XZB0-3; Sequence=VSP_053899; Name=4; Synonyms=deltaE6.1; IsoId=Q6XZB0-4; Sequence=VSP_053898; Name=5; Synonyms=deltaE5; IsoId=Q6XZB0-5; Sequence=VSP_053897; Name=6; Synonyms=deltaE8-9; IsoId=Q6XZB0-6; Sequence=VSP_053900, VSP_053903; Name=7; Synonyms=7B+; IsoId=Q6XZB0-7; Sequence=VSP_053901, VSP_053902; Name=8; Synonyms=deltaE2-3; IsoId=Q6XZB0-8; Sequence=VSP_053896; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000269|PubMed:12963729}. Secreted {ECO:0000269|PubMed:12963729}. Note=May associate with lipid draft. {ECO:0000269|PubMed:12963729}.; SUBCELLULAR LOCATION: Isoform 2: Membrane {ECO:0000269|PubMed:12963729}. Secreted {ECO:0000269|PubMed:12963729}. Note=May associate with lipid draft. {ECO:0000269|PubMed:12963729}.


uniprotID: Q5W064
geneSymbol: LIPJ
reactome: R-HSA-6809371;
name: Lipase member J (EC 3.1.1.-) (Lipase-like abhydrolase domain-containing protein 1)
length: 366
go: ENSG00000204022;
snps: rs1409136
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; lipase activity [GO:0016298]; cellular lipid metabolic process [GO:0044255]; lipid catabolic process [GO:0016042]


uniprotID: Q5VYY2
geneSymbol: LIPM
reactome: R-HSA-6809371;
name: Lipase member M (EC 3.1.1.-) (Lipase-like abhydrolase domain-containing protein 3)
length: 423
go: ENSG00000173239;
snps: rs3910680 rs11202862
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; lipase activity [GO:0016298]; lipoprotein lipase activity [GO:0004465]; cellular lipid metabolic process [GO:0044255]; cornification [GO:0070268]; lipid catabolic process [GO:0016042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VYY2-1; Sequence=Displayed; Name=2; IsoId=Q5VYY2-2; Sequence=VSP_056261; Note=No experimental confirmation available.; 


uniprotID: Q05469
geneSymbol: LIPE
reactome: R-HSA-163560;
name: Hormone-sensitive lipase (HSL) (EC 3.1.1.79)
length: 1076
go: ENSG00000079435;
snps: rs16975750 rs34080774 rs34348028 rs16975748 rs34996020 rs3745238 rs35938529 rs33921216 rs7246232
sequence:

opentargets:
caveola [GO:0005901]; cytosol [GO:0005829]; lipid droplet [GO:0005811]; hormone-sensitive lipase activity [GO:0033878]; protein kinase binding [GO:0019901]; serine hydrolase activity [GO:0017171]; triglyceride lipase activity [GO:0004806]; cholesterol metabolic process [GO:0008203]; diacylglycerol catabolic process [GO:0046340]; lipid catabolic process [GO:0016042]; long-chain fatty acid catabolic process [GO:0042758]; protein phosphorylation [GO:0006468]; triglyceride catabolic process [GO:0019433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Testicular; IsoId=Q05469-1; Sequence=Displayed; Name=2; IsoId=Q05469-2; Sequence=VSP_017116; 

location:
SUBCELLULAR LOCATION: Cell membrane. Membrane, caveola. Cytoplasm, cytosol. Note=Found in the high-density caveolae. Translocates to the cytoplasm from the caveolae upon insulin stimulation.


uniprotID: Q9Y234
geneSymbol: LIPT1
reactome: R-HSA-389661;
length: 373
go: ENSG00000144182;
drug: DB00166;
snps: rs767568897 rs137973334 rs786205156
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Lipoyltransferase 1, mitochondrial (EC 2.3.1.-) (Lipoate biosynthesis protein) (Lipoate-protein ligase) (Lipoyl ligase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; transferase activity, transferring acyl groups [GO:0016746]; cellular nitrogen compound metabolic process [GO:0034641]; cellular protein modification process [GO:0006464]; lipid metabolic process [GO:0006629]; protein lipoylation [GO:0009249]


uniprotID: P43034
geneSymbol: PAFAH1B1
length: 410
go: ENSG00000007168;
snps: rs121434486 rs121434482 rs121434487 rs121434484 rs121434488 rs121434490 rs121434485
reactome:
R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5663220;R-HSA-6811436;R-HSA-68877;R-HSA-8854518;

name:
Platelet-activating factor acetylhydrolase IB subunit alpha (Lissencephaly-1 protein) (LIS-1) (PAF acetylhydrolase 45 kDa subunit) (PAF-AH 45 kDa subunit) (PAF-AH alpha) (PAFAH alpha)

sequence:

opentargets:
astral microtubule [GO:0000235]; axon cytoplasm [GO:1904115]; cell cortex [GO:0005938]; cell leading edge [GO:0031252]; central region of growth cone [GO:0090724]; centrosome [GO:0005813]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; kinesin complex [GO:0005871]; kinetochore [GO:0000776]; microtubule associated complex [GO:0005875]; motile cilium [GO:0031514]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; perinuclear region of cytoplasm [GO:0048471]; stereocilium [GO:0032420]; dynactin binding [GO:0034452]; dynein complex binding [GO:0070840]; dynein intermediate chain binding [GO:0045505]; heparin binding [GO:0008201]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]; phospholipase A2 activity [GO:0004623]; phospholipase binding [GO:0043274]; phosphoprotein binding [GO:0051219]; protein homodimerization activity [GO:0042803]; acrosome assembly [GO:0001675]; actin cytoskeleton organization [GO:0030036]; adult locomotory behavior [GO:0008344]; ameboidal-type cell migration [GO:0001667]; auditory receptor cell development [GO:0060117]; brain morphogenesis [GO:0048854]; cerebral cortex development [GO:0021987]; cerebral cortex neuron differentiation [GO:0021895]; chemical synaptic transmission [GO:0007268]; ciliary basal body-plasma membrane docking [GO:0097711]; cochlea development [GO:0090102]; corpus callosum morphogenesis [GO:0021540]; cortical microtubule organization [GO:0043622]; establishment of centrosome localization [GO:0051660]; establishment of mitotic spindle orientation [GO:0000132]; establishment of planar polarity of embryonic epithelium [GO:0042249]; G2/M transition of mitotic cell cycle [GO:0000086]; hippocampus development [GO:0021766]; layer formation in cerebral cortex [GO:0021819]; learning or memory [GO:0007611]; lipid catabolic process [GO:0016042]; maintenance of centrosome location [GO:0051661]; microtubule cytoskeleton organization [GO:0000226]; microtubule cytoskeleton organization involved in establishment of planar polarity [GO:0090176]; microtubule organizing center organization [GO:0031023]; microtubule sliding [GO:0051012]; microtubule-based process [GO:0007017]; negative regulation of JNK cascade [GO:0046329]; negative regulation of neuron projection development [GO:0010977]; neuroblast proliferation [GO:0007405]; neuromuscular process controlling balance [GO:0050885]; neuron migration [GO:0001764]; nuclear envelope disassembly [GO:0051081]; nuclear migration [GO:0007097]; osteoclast development [GO:0036035]; platelet activating factor metabolic process [GO:0046469]; positive regulation of axon extension [GO:0045773]; positive regulation of cytokine-mediated signaling pathway [GO:0001961]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of embryonic development [GO:0040019]; positive regulation of mitotic cell cycle [GO:0045931]; protein secretion [GO:0009306]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of GTPase activity [GO:0043087]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of microtubule motor activity [GO:2000574]; retrograde axonal transport [GO:0008090]; stem cell division [GO:0017145]; transmission of nerve impulse [GO:0019226]; vesicle transport along microtubule [GO:0047496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43034-1; Sequence=Displayed; Name=2; IsoId=P43034-2; Sequence=VSP_019376, VSP_019377, VSP_019378, VSP_019379; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, spindle {ECO:0000255|HAMAP-Rule:MF_03141}. Nucleus membrane {ECO:0000255|HAMAP-Rule:MF_03141}. Note=Redistributes to axons during neuronal development. Also localizes to the microtubules of the manchette in elongating spermatids and to the meiotic spindle in spermatocytes (By similarity). Localizes to the plus end of microtubules and to the centrosome. May localize to the nuclear membrane. {ECO:0000250}.


uniprotID: Q9BV20
geneSymbol: MRI1
reactome: R-HSA-1237112;
pdb: 4LDQ;4LDR;
length: 369
go: ENSG00000037757;
snps: rs35098252 rs10402855
name:
Methylthioribose-1-phosphate isomerase (M1Pi) (MTR-1-P isomerase) (EC 5.3.1.23) (Mediator of RhoA-dependent invasion) (S-methyl-5-thioribose-1-phosphate isomerase) (Translation initiation factor eIF-2B subunit alpha/beta/delta-like protein)

sequence:

opentargets:
cell projection [GO:0042995]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; identical protein binding [GO:0042802]; S-methyl-5-thioribose-1-phosphate isomerase activity [GO:0046523]; L-methionine salvage from methylthioadenosine [GO:0019509]; L-methionine salvage from S-adenosylmethionine [GO:0019284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BV20-1; Sequence=Displayed; Name=2; IsoId=Q9BV20-2; Sequence=VSP_030935; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03119, ECO:0000269|PubMed:19620624}. Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03119, ECO:0000269|PubMed:19620624}. Cell projection {ECO:0000269|PubMed:19620624}. Note=Primarily nuclear, but cytoplasmic in cancer cells, with enrichment at leading edge of the plasma membrane in late stage tumor cells.


uniprotID: Q5T7N2
geneSymbol: L1TD1
pdb: 2LR6;3SOO;
name: LINE-1 type transposase domain-containing protein 1 (ES cell-associated protein 11)
length: 865
go: ENSG00000240563;
snps: rs7552335 rs7542665 rs7533274 rs2457828 rs11207933 rs2886644 rs11207934
sequence:

opentargets:
ribonucleoprotein complex [GO:1990904]; single-stranded RNA binding [GO:0003727]; transposition, RNA-mediated [GO:0032197]


uniprotID: Q8N485
geneSymbol: LIX1
name: Protein limb expression 1 homolog
length: 282
go: ENSG00000145721;
opentargets: cytoplasm [GO:0005737]; autophagosome maturation [GO:0097352]; autophagy [GO:0006914]
snps: rs11558079
sequence:


uniprotID: P09960
geneSymbol: LTA4H
reactome: R-HSA-2142691;R-HSA-6798695;R-HSA-9018676;R-HSA-9018681;R-HSA-9018896;R-HSA-9020265;R-HSA-9023661;
name: Leukotriene A-4 hydrolase (LTA-4 hydrolase) (EC 3.3.2.6) (Leukotriene A(4) hydrolase)
length: 611
go: ENSG00000111144;
snps: rs45630737
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1GW6;1H19;1HS6;1SQM;2R59;2VJ8;3B7R;3B7S;3B7T;3B7U;3CHO;3CHP;3CHQ;3CHR;3CHS;3FH5;3FH7;3FH8;3FHE;3FTS;3FTU;3FTV;3FTW;3FTX;3FTY;3FTZ;3FU0;3FU3;3FU5;3FU6;3FUD;3FUE;3FUF;3FUH;3FUI;3FUJ;3FUK;3FUL;3FUM;3FUN;3U9W;4DPR;4L2L;4MKT;4MS6;4R7L;4RSY;4RVB;5AEN;5BPP;5FWQ;5N3W;5NI2;5NI4;5NI6;5NIA;5NID;5NIE;6ENB;6ENC;6END;

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; tertiary granule lumen [GO:1904724]; aminopeptidase activity [GO:0004177]; epoxide hydrolase activity [GO:0004301]; leukotriene-A4 hydrolase activity [GO:0004463]; metalloaminopeptidase activity [GO:0070006]; peptidase activity [GO:0008233]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cellular lipid metabolic process [GO:0044255]; cellular protein metabolic process [GO:0044267]; leukotriene biosynthetic process [GO:0019370]; leukotriene metabolic process [GO:0006691]; long-chain fatty acid biosynthetic process [GO:0042759]; neutrophil degranulation [GO:0043312]; peptide catabolic process [GO:0043171]

drug:
DB07102;DB06917;DB07258;DB07259;DB02352;DB07104;DB06828;DB01197;DB05745;DB05177;DB06851;DB08040;DB07099;DB07260;DB07196;DB03424;DB07237;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=L-LTA4; IsoId=P09960-1; Sequence=Displayed; Name=2; Synonyms=S-LTA4; IsoId=P09960-2; Sequence=VSP_041108, VSP_041109; Name=3; IsoId=P09960-3; Sequence=VSP_041107, VSP_041108, VSP_041109; Name=4; IsoId=P09960-4; Sequence=VSP_041107; Note=No experimental confirmation available.; 


uniprotID: Q6UX01
geneSymbol: LMBR1L
length: 489
go: ENSG00000139636;
name:
Protein LMBR1L (Limb region 1 protein homolog-like) (Lipocalin-1-interacting membrane receptor) (Lipocalin-interacting membrane receptor)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; transmembrane signaling receptor activity [GO:0004888]; receptor-mediated endocytosis [GO:0006898]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6UX01-1; Sequence=Displayed; Name=2; IsoId=Q6UX01-2; Sequence=VSP_016893; Name=3; IsoId=Q6UX01-3; Sequence=VSP_016894; Name=4; IsoId=Q6UX01-4; Sequence=VSP_016892; Name=5; IsoId=Q6UX01-5; Sequence=VSP_016895, VSP_016896; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11287427}; Multi-pass membrane protein {ECO:0000269|PubMed:11287427}.


uniprotID: P17931
geneSymbol: LGALS3
reactome: R-HSA-6798695;R-HSA-879415;R-HSA-8939246;R-HSA-8941333;
length: 250
go: ENSG00000131981;
snps: rs4644 rs4652 rs10148371
pdb:
1A3K;1KJL;1KJR;2NMN;2NMO;2NN8;2XG3;3AYA;3AYC;3AYD;3AYE;3T1L;3T1M;3ZSJ;3ZSK;3ZSL;3ZSM;4BLI;4BLJ;4BM8;4JC1;4JCK;4LBJ;4LBK;4LBL;4LBM;4LBN;4LBO;4R9A;4R9B;4R9C;4R9D;4RL7;4XBN;5E88;5E89;5E8A;5EXO;5H9P;5H9R;5IUQ;5NF7;5NF9;5NFA;5NFB;5NFC;5OAX;5ODY;6EOG;6EOL;6EXY;6EYM;6F2Q;6FOF;6G0V;

name:
Galectin-3 (Gal-3) (35 kDa lectin) (Carbohydrate-binding protein 35) (CBP 35) (Galactose-specific lectin 3) (Galactoside-binding protein) (GALBP) (IgE-binding protein) (L-31) (Laminin-binding protein) (Lectin L-29) (Mac-2 antigen)

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule membrane [GO:0101003]; immunological synapse [GO:0001772]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; nucleus [GO:0005634]; other organism cell [GO:0044216]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; spliceosomal complex [GO:0005681]; carbohydrate binding [GO:0030246]; chemoattractant activity [GO:0042056]; IgE binding [GO:0019863]; laminin binding [GO:0043236]; oligosaccharide binding [GO:0070492]; protein phosphatase binding [GO:0019903]; protein phosphatase inhibitor activity [GO:0004864]; RNA binding [GO:0003723]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; eosinophil chemotaxis [GO:0048245]; epithelial cell differentiation [GO:0030855]; innate immune response [GO:0045087]; killing of cells of other organism [GO:0031640]; macrophage chemotaxis [GO:0048246]; monocyte chemotaxis [GO:0002548]; mononuclear cell migration [GO:0071674]; mRNA processing [GO:0006397]; negative regulation of endocytosis [GO:0045806]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of immunological synapse formation [GO:2000521]; negative regulation of protein tyrosine phosphatase activity [GO:1903614]; negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell [GO:2001189]; negative regulation of T cell receptor signaling pathway [GO:0050860]; neutrophil chemotaxis [GO:0030593]; neutrophil degranulation [GO:0043312]; positive chemotaxis [GO:0050918]; positive regulation of calcium ion import [GO:0090280]; positive regulation of mononuclear cell migration [GO:0071677]; positive regulation of protein homodimerization activity [GO:0090073]; positive regulation of protein localization to plasma membrane [GO:1903078]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; regulation of myeloid cell differentiation [GO:0045637]; regulation of T cell apoptotic process [GO:0070232]; regulation of T cell proliferation [GO:0042129]; RNA splicing [GO:0008380]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Secreted. Note=Secreted by a non-classical secretory pathway and associates with the cell surface.


uniprotID: Q8N149
geneSymbol: LILRA2
reactome: R-HSA-198933;
pdb: 2OTP;
length: 483
snps: rs1834697 rs1834698 rs7249811 rs7249154 rs7249054
name:
Leukocyte immunoglobulin-like receptor subfamily A member 2 (CD85 antigen-like family member H) (Immunoglobulin-like transcript 1) (ILT-1) (Leukocyte immunoglobulin-like receptor 7) (LIR-7) (CD antigen CD85h)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; antigen binding [GO:0003823]; IgM binding [GO:0001791]; signaling receptor activity [GO:0038023]; defense response [GO:0006952]; granulocyte colony-stimulating factor production [GO:0071611]; granulocyte macrophage colony-stimulating factor production [GO:0032604]; innate immune response [GO:0045087]; innate immune response activating cell surface receptor signaling pathway [GO:0002220]; interleukin-6 production [GO:0032635]; interleukin-8 production [GO:0032637]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]; neutrophil activation involved in immune response [GO:0002283]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N149-1; Sequence=Displayed; Name=2; IsoId=Q8N149-2; Sequence=VSP_008455; Note=No experimental confirmation available.; Name=3; IsoId=Q8N149-3; Sequence=VSP_057085, VSP_057086; Name=4; IsoId=Q8N149-4; Sequence=VSP_057086; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12529506, ECO:0000269|PubMed:22479404, ECO:0000269|PubMed:27572839}; Single-pass type I membrane protein {ECO:0000305|PubMed:12529506, ECO:0000305|PubMed:22479404}.; SUBCELLULAR LOCATION: Isoform 4: Secreted {ECO:0000303|PubMed:19658091}.


uniprotID: P59901
geneSymbol: LILRA4
reactome: R-HSA-198933;
length: 499
snps: rs2241384 rs10419832
name:
Leukocyte immunoglobulin-like receptor subfamily A member 4 (CD85 antigen-like family member G) (Immunoglobulin-like transcript 7) (ILT-7) (CD antigen CD85g)

sequence:

opentargets:
Fc-epsilon receptor I complex [GO:0032998]; integral component of plasma membrane [GO:0005887]; coreceptor activity [GO:0015026]; signaling receptor binding [GO:0005102]; Fc-epsilon receptor signaling pathway [GO:0038095]; innate immune response [GO:0045087]; negative regulation of interferon-alpha production [GO:0032687]; negative regulation of toll-like receptor 7 signaling pathway [GO:0034156]; negative regulation of toll-like receptor 9 signaling pathway [GO:0034164]; negative regulation of tumor necrosis factor production [GO:0032720]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P59901-1; Sequence=Displayed; Name=2; IsoId=P59901-2; Sequence=VSP_038694; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16735691, ECO:0000269|PubMed:19564354, ECO:0000269|PubMed:24586760, ECO:0000269|PubMed:26172439}; Single-pass type I membrane protein {ECO:0000305|PubMed:16735691, ECO:0000305|PubMed:19564354, ECO:0000305|PubMed:24586760, ECO:0000305|PubMed:26172439}.


uniprotID: O75023
geneSymbol: LILRB5
reactome: R-HSA-198933;
length: 590
snps: rs12975366
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Leukocyte immunoglobulin-like receptor subfamily B member 5 (CD85 antigen-like family member C) (Leukocyte immunoglobulin-like receptor 8) (LIR-8) (CD antigen CD85c)

sequence:

opentargets:
integral component of membrane [GO:0016021]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; cell surface receptor signaling pathway [GO:0007166]; defense response [GO:0006952]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75023-1; Sequence=Displayed; Name=2; IsoId=O75023-2; Sequence=VSP_008461, VSP_008462; Note=No experimental confirmation available.; Name=3; IsoId=O75023-3; Sequence=VSP_008462; Note=No experimental confirmation available.; 


uniprotID: Q99732
geneSymbol: LITAF
length: 161
go: ENSG00000189067;
snps: rs141862602 rs4280262 rs104894519 rs104894520 rs104894521 rs104894522
name:
Lipopolysaccharide-induced tumor necrosis factor-alpha factor (LPS-induced TNF-alpha factor) (Small integral membrane protein of lysosome/late endosome) (p53-induced gene 7 protein)

sequence:
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKRL

opentargets:
cytoplasmic side of early endosome membrane [GO:0098559]; cytoplasmic side of late endosome membrane [GO:0098560]; cytoplasmic side of lysosomal membrane [GO:0098574]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; WW domain binding [GO:0050699]; zinc ion binding [GO:0008270]; aging [GO:0007568]; cellular response to lipopolysaccharide [GO:0071222]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cytokine production [GO:0001817]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99732-1; Sequence=Displayed; Name=2; IsoId=Q99732-2; Sequence=VSP_016461; Note=May be due to a frameshift that creates an unconventional splicing site. Data inferred from this isoform must be interpreted with caution.; Name=3; IsoId=Q99732-3; Sequence=VSP_045701; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15793005}. Nucleus {ECO:0000269|PubMed:15793005, ECO:0000269|PubMed:16954198}. Lysosome membrane {ECO:0000269|PubMed:11274176, ECO:0000269|PubMed:27582497}; Peripheral membrane protein {ECO:0000269|PubMed:11274176}; Cytoplasmic side {ECO:0000269|PubMed:11274176}. Early endosome membrane {ECO:0000269|PubMed:21896645, ECO:0000269|PubMed:23166352, ECO:0000269|PubMed:27582497}. Late endosome membrane {ECO:0000269|PubMed:27582497}. Endosome membrane {ECO:0000269|PubMed:27927196}; Peripheral membrane protein {ECO:0000269|PubMed:27927196}; Cytoplasmic side {ECO:0000269|PubMed:27927196}. Cell membrane {ECO:0000269|PubMed:16118794, ECO:0000269|PubMed:27582497}; Peripheral membrane protein {ECO:0000269|PubMed:27582497}; Cytoplasmic side {ECO:0000269|PubMed:27582497}. Golgi apparatus membrane {ECO:0000269|PubMed:16118794}. Note=Associated with membranes of lysosomes, early and late endosomes (PubMed:11274176, PubMed:27927196, PubMed:27582497). Can translocate from the cytoplasm into the nucleus (PubMed:15793005). Detected at Schmidt-Lanterman incisures and in nodal regions of myelinating Schwann cells (By similarity). {ECO:0000250|UniProtKB:Q9JLJ0, ECO:0000269|PubMed:11274176, ECO:0000269|PubMed:15793005, ECO:0000269|PubMed:27582497, ECO:0000269|PubMed:27927196}.


uniprotID: Q8IVB5
geneSymbol: LIX1L
name: LIX1-like protein
length: 337
go: ENSG00000271601;
opentargets: cytoplasm [GO:0005737]; autophagosome maturation [GO:0097352]; autophagy [GO:0006914]
sequence:


uniprotID: A0A0A0MT76
geneSymbol: IGLJ1
name: Immunoglobulin lambda joining 1
sequence: PSRLLLQPSPQRADPRCWPRGFWSEPQSLCYVFGTGTKVTVL
length: 42
go: ENSG00000211674;
opentargets:
extracellular region [GO:0005576]; plasma membrane [GO:0005886]; adaptive immune response [GO:0002250]


uniprotID: Q9H0V9
geneSymbol: LMAN2L
reactome: R-HSA-204005;R-HSA-5694530;
name: VIP36-like protein (Lectin mannose-binding 2-like) (LMAN2-like protein)
length: 348
go: ENSG00000114988;
snps: rs869320632
sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; mannose binding [GO:0005537]; metal ion binding [GO:0046872]; endoplasmic reticulum organization [GO:0007029]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; protein folding [GO:0006457]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H0V9-1; Sequence=Displayed; Name=2; IsoId=Q9H0V9-2; Sequence=VSP_017940; Name=3; IsoId=Q9H0V9-3; Sequence=VSP_054439, VSP_054440; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Note=Predominantly found in the endoplasmic reticulum. Partly found in the Golgi.


uniprotID: P49257
geneSymbol: LMAN1
reactome: R-HSA-204005;R-HSA-5694530;R-HSA-948021;
pdb: 3A4U;3LCP;3WHT;3WHU;3WNX;4GKX;4GKY;4YGB;4YGC;4YGD;4YGE;
length: 510
go: ENSG00000074695;
drug: DB00025;
snps: rs1043302 rs33926449 rs3737392 rs2298711
name:
Protein ERGIC-53 (ER-Golgi intermediate compartment 53 kDa protein) (Gp58) (Intracellular mannose-specific lectin MR60) (Lectin mannose-binding 1)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; host cell perinuclear region of cytoplasm [GO:0044220]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; sarcomere [GO:0030017]; mannose binding [GO:0005537]; metal ion binding [GO:0046872]; unfolded protein binding [GO:0051082]; blood coagulation [GO:0007596]; COPII vesicle coating [GO:0048208]; endoplasmic reticulum organization [GO:0007029]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; negative regulation of protein targeting to mitochondrion [GO:1903215]; positive regulation of organelle organization [GO:0010638]; protein folding [GO:0006457]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein.


uniprotID: Q12907
geneSymbol: LMAN2
reactome: R-HSA-204005;R-HSA-5694530;
length: 356
go: ENSG00000169223;
name:
Vesicular integral-membrane protein VIP36 (Glycoprotein GP36b) (Lectin mannose-binding 2) (Vesicular integral-membrane protein 36) (VIP36)

sequence:

opentargets:
cell surface [GO:0009986]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; carbohydrate binding [GO:0030246]; heat shock protein binding [GO:0031072]; mannose binding [GO:0005537]; metal ion binding [GO:0046872]; endoplasmic reticulum organization [GO:0007029]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; positive regulation of phagocytosis [GO:0050766]; protein transport [GO:0015031]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:10444376}; Single-pass type I membrane protein {ECO:0000269|PubMed:10444376}. Golgi apparatus membrane {ECO:0000269|PubMed:10444376}; Single-pass membrane protein {ECO:0000269|PubMed:10444376}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10444376}; Single-pass type I membrane protein {ECO:0000269|PubMed:10444376}.


uniprotID: Q96JM7
geneSymbol: L3MBTL3
pdb: 1WJQ;1WJS;3UT1;4FL6;4L59;
length: 780
go: ENSG00000198945;
snps: rs9388768
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Lethal(3)malignant brain tumor-like protein 3 (H-l(3)mbt-like protein 3) (L(3)mbt-like protein 3) (MBT-1)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; zinc ion binding [GO:0008270]; chromatin organization [GO:0006325]; erythrocyte maturation [GO:0043249]; granulocyte differentiation [GO:0030851]; macrophage differentiation [GO:0030225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JM7-1; Sequence=Displayed; Name=2; IsoId=Q96JM7-2; Sequence=VSP_013508; 


uniprotID: Q8WVP7
geneSymbol: LMBR1
name: Limb region 1 protein homolog (Differentiation-related gene 14 protein)
length: 490
go: ENSG00000105983;
opentargets: integral component of membrane [GO:0016021]; embryonic digit morphogenesis [GO:0042733]
snps: rs6957768
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WVP7-1; Sequence=Displayed; Name=2; IsoId=Q8WVP7-2; Sequence=VSP_016888; Note=No experimental confirmation available.; Name=3; IsoId=Q8WVP7-3; Sequence=VSP_017441; Note=No experimental confirmation available.; 


uniprotID: A0A1B0GTW7
geneSymbol: LMLN2
name: Leishmanolysin-like peptidase 2 (EC 3.4.24.-)
length: 788
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; peptidase activity [GO:0008233]; cell adhesion [GO:0007155]


uniprotID: Q96KR4
geneSymbol: LMLN
name: Leishmanolysin-like peptidase (EC 3.4.24.-) (Invadolysin)
length: 655
go: ENSG00000185621;
snps: rs7373165
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; lipid droplet [GO:0005811]; membrane [GO:0016020]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; peptidase activity [GO:0008233]; cell adhesion [GO:0007155]; cell cycle [GO:0007049]; cell division [GO:0051301]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96KR4-1; Sequence=Displayed; Name=2; IsoId=Q96KR4-2; Sequence=VSP_028002, VSP_028003; Name=3; IsoId=Q96KR4-3; Sequence=VSP_028003; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15557119}. Lipid droplet {ECO:0000269|PubMed:19706689}. Note=Found in ring-like structures resembling invadopodia. In migrating cells it relocalizes from internal structures to the leading edge of cells. {ECO:0000269|PubMed:19706689}.


uniprotID: P02545
geneSymbol: LMNA
pdb: 1IFR;1IVT;1X8Y;2XV5;2YPT;3GEF;3V4Q;3V4W;3V5B;6GHD;
name: Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lamin) (Renal carcinoma antigen NY-REN-32)]
length: 664
go: ENSG00000160789;
reactome:
R-HSA-1221632;R-HSA-2993913;R-HSA-2995383;R-HSA-352238;R-HSA-381038;R-HSA-4419969;R-HSA-6802952;R-HSA-8862803;

sequence:

opentargets:
cytosol [GO:0005829]; intermediate filament [GO:0005882]; lamin filament [GO:0005638]; nuclear envelope [GO:0005635]; nuclear lamina [GO:0005652]; nuclear membrane [GO:0031965]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; cellular protein localization [GO:0034613]; cellular response to hypoxia [GO:0071456]; establishment or maintenance of microtubule cytoskeleton polarity [GO:0030951]; IRE1-mediated unfolded protein response [GO:0036498]; mitotic nuclear envelope reassembly [GO:0007084]; muscle organ development [GO:0007517]; negative regulation of cardiac muscle hypertrophy in response to stress [GO:1903243]; negative regulation of cell proliferation [GO:0008285]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of mesenchymal cell proliferation [GO:0072201]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; nuclear envelope organization [GO:0006998]; positive regulation of cell aging [GO:0090343]; positive regulation of gene expression [GO:0010628]; positive regulation of histone H3-K9 trimethylation [GO:1900114]; protein import into nucleus [GO:0006606]; protein localization to nucleus [GO:0034504]; regulation of cell migration [GO:0030334]; regulation of protein localization to nucleus [GO:1900180]; regulation of protein stability [GO:0031647]; regulation of telomere maintenance [GO:0032204]; ventricular cardiac muscle cell development [GO:0055015]

snps:
rs57077886 rs58327533 rs61578124 rs59914820 rs57966821 rs267607614 rs56694480 rs57983345 rs60446065 rs58436778 rs60695352 rs59931416 rs28928903 rs58922911 rs28928900 rs56793579 rs57793737 rs57793737 rs28933090 rs59040894 rs267607560 rs59065411 rs267607568 rs267607605 rs60864230 rs60864230 rs267607649 rs60652225 rs60652225 rs58912633 rs61661343 rs60310264 rs58917027 rs28933093 rs267607570 rs267607643 rs267607571 rs59026483 rs57045855 rs28933091 rs28933092 rs61195471 rs267607629 rs267607572 rs61295588 rs58034145 rs28928901 rs199474724 rs61214927 rs57207746 rs58850446 rs59332535 rs121912496 rs57048196 rs267607630 rs267607641 rs61616775 rs267607633 rs59885338 rs79907212 rs267607596 rs61527854 rs56816490 rs267607574 rs58105277 rs61177390 rs58789393 rs60458016 rs267607634 rs59653062 rs61672878 rs61672878 rs121912495 rs267607545 rs267607576 rs58672172 rs61094188 rs267607647 rs766811975 rs267607606 rs755686359 rs267607564 rs150840924 rs62636506 rs58541611 rs267607637 rs267607598 rs58932704 rs267607638 rs267607597 rs267607599 rs60992550 rs61235244 rs267607642 rs61282106 rs267607639 rs57394692 rs28928902 rs267607578 rs57747780 rs11575937 rs11575937 rs57920071 rs59981161 rs267607607 rs58362413 rs201583907 rs57318642 rs57520892 rs57520892 rs57629361 rs57629361 rs60580541 rs60934003 rs56984562 rs61444459 rs61444459 rs56984562 rs56673169 rs60890628 rs61224243 rs57830985 rs60662302 rs61064130 rs13768 rs267607648 rs142000963 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=A; Synonyms=Lamin A; IsoId=P02545-1; Sequence=Displayed; Name=C; Synonyms=Lamin C; IsoId=P02545-2; Sequence=VSP_002469, VSP_002470; Name=ADelta10; Synonyms=Lamin ADelta10; IsoId=P02545-3; Sequence=VSP_002468; Name=4; IsoId=P02545-4; Sequence=VSP_045977, VSP_045978, VSP_045979; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=P02545-5; Sequence=VSP_053503, VSP_053504; Note=No experimental confirmation available.; Name=6; Synonyms=Progerin; IsoId=P02545-6; Sequence=VSP_053505; Note=Disease-associated isoform. Polymorphism at codon 608 results in activation of a cryptic splice donor site within exon 11, resulting in a truncated protein product that lacks the site for endoproteolytic cleavage.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15372542}. Nucleus envelope. Nucleus lamina. Nucleus, nucleoplasm. Note=Farnesylation of prelamin-A/C facilitates nuclear envelope targeting and subsequent cleaveage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin-A/C, which can then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated prelamin-A/C.; SUBCELLULAR LOCATION: Isoform C: Nucleus speckle {ECO:0000269|PubMed:16061563}.


uniprotID: Q96GX9
geneSymbol: APIP
reactome: R-HSA-1237112;
pdb: 4M6R;
length: 242
go: ENSG00000149089;
snps: rs2956114 rs17850326 rs1977420 rs17850327
name:
Methylthioribulose-1-phosphate dehydratase (MTRu-1-P dehydratase) (EC 4.2.1.109) (APAF1-interacting protein) (hAPIP)

sequence:

opentargets:
cytoplasm [GO:0005737]; identical protein binding [GO:0042802]; methylthioribulose 1-phosphate dehydratase activity [GO:0046570]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; L-methionine salvage from methylthioadenosine [GO:0019509]; L-methionine salvage from S-adenosylmethionine [GO:0019284]; negative regulation of apoptotic process [GO:0043066]; protein homotetramerization [GO:0051289]; pyroptosis [GO:0070269]; regulation of ERK1 and ERK2 cascade [GO:0070372]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=Q96GX9-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q96GX9-3; Sequence=VSP_044403; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03116, ECO:0000269|PubMed:15262985, ECO:0000269|PubMed:23285211}.


uniprotID: A1A4G5
geneSymbol: LNP1
name: Leukemia NUP98 fusion partner 1
length: 178
go: ENSG00000206535;
sequence:
MEHKDDDDDDVSFAKWMSSFWGHSWREEDQRGLRERHRLQATSHRKTSLPCPLPVLPRIPSSDCHPRRHSHEDQEFRCRSHVRDYRKYSEDGSFKEPLESKGRSHSKIEKFSESFERQLCFRTKRSASLGPESRKERNERECLRMEIKSRKKVEEERSSRKEEHGEAHMAPLFEKGPE


uniprotID: Q8TE12
geneSymbol: LMX1A
length: 382
go: ENSG00000162761;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
name:
LIM homeobox transcription factor 1-alpha (LIM/homeobox protein 1.1) (LMX-1.1) (LIM/homeobox protein LMX1A)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; axon guidance [GO:0007411]; cerebellum development [GO:0021549]; dentate gyrus development [GO:0021542]; dopaminergic neuron differentiation [GO:0071542]; locomotory behavior [GO:0007626]; memory [GO:0007613]; midbrain dopaminergic neuron differentiation [GO:1904948]; negative regulation of neuron differentiation [GO:0045665]; olfactory behavior [GO:0042048]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell growth [GO:0001558]; synapse organization [GO:0050808]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TE12-1; Sequence=Displayed; Name=LMX1A-4AB; IsoId=Q8TE12-2; Sequence=VSP_003112; 


uniprotID: O60663
geneSymbol: LMX1B
length: 402
go: ENSG00000136944;
snps: rs2235058 rs121909488 rs121909491 rs121909486
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
name:
LIM homeobox transcription factor 1-beta (LIM/homeobox protein 1.2) (LMX-1.2) (LIM/homeobox protein LMX1B)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; dopaminergic neuron differentiation [GO:0071542]; dorsal/ventral pattern formation [GO:0009953]; in utero embryonic development [GO:0001701]; multicellular organism development [GO:0007275]; neuron differentiation [GO:0030182]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=O60663-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O60663-2; Sequence=VSP_003113; Name=3; IsoId=O60663-3; Sequence=VSP_046472, VSP_003113; 


uniprotID: F2Z398
geneSymbol: LMO7DN
name: LMO7 downstream neighbor protein
length: 122
sequence:
MTWLDKGVWTQEDENSCSFSESDFPGCRDQINPSIPSIWTAVSGMMISLEVRWWIKGKQGYVISLGHALSPRLECSGTFSAHCILGLPGGSSYPPASVSQVVGTTALYLVEEAWAEAGKMRS


uniprotID: Q8WWI1
geneSymbol: LMO7
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 2EAQ;
name: LIM domain only protein 7 (LMO-7) (F-box only protein 20) (LOMP)
length: 1683
go: ENSG00000136153;
snps: rs7988661
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; ubiquitin-protein transferase activity [GO:0004842]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of cell adhesion [GO:0030155]; regulation of signaling [GO:0023051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8WWI1-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8WWI1-2; Sequence=VSP_009719; Name=3; IsoId=Q8WWI1-3; Sequence=VSP_009718; Name=4; IsoId=Q8WWI1-4; Sequence=VSP_009720; Name=5; IsoId=Q8WWI1-5; Sequence=VSP_055683, VSP_055684, VSP_055685; 


uniprotID: P29536
geneSymbol: LMOD1
reactome: R-HSA-445355;
pdb: 4Z79;4Z8G;4Z94;
length: 600
go: ENSG00000163431;
snps: rs2820312
name:
Leiomodin-1 (64 kDa autoantigen 1D) (64 kDa autoantigen 1D3) (64 kDa autoantigen D1) (Leiomodin, muscle form) (Smooth muscle leiomodin) (SM-Lmod) (Thyroid-associated ophthalmopathy autoantigen)

sequence:

opentargets:
actin filament [GO:0005884]; cytosol [GO:0005829]; membrane [GO:0016020]; myofibril [GO:0030016]; sarcomere [GO:0030017]; striated muscle thin filament [GO:0005865]; actin binding [GO:0003779]; tropomyosin binding [GO:0005523]; actin nucleation [GO:0045010]; muscle contraction [GO:0006936]; myofibril assembly [GO:0030239]; pointed-end actin filament capping [GO:0051694]; positive regulation of actin filament polymerization [GO:0030838]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29536-1; Sequence=Displayed; Name=2; IsoId=P29536-2; Sequence=VSP_035745; 

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:26370058}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:A0A0G2K0D3}. Note=Colocalizes with actin filaments in sarcomeres. {ECO:0000250|UniProtKB:A0A0G2K0D3}.


uniprotID: Q9NZU5
geneSymbol: LMCD1
reactome: R-HSA-5683826;
name: LIM and cysteine-rich domains protein 1 (Dyxin)
length: 365
go: ENSG00000071282;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; cellular protein metabolic process [GO:0044267]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; regulation of cardiac muscle hypertrophy [GO:0010611]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZU5-1; Sequence=Displayed; Name=2; IsoId=Q9NZU5-2; Sequence=VSP_053895; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=May shuttle between the cytoplasm and the nucleus. {ECO:0000250}.


uniprotID: Q1L5Z9
geneSymbol: LONRF2
length: 754
go: ENSG00000170500;
opentargets: metal ion binding [GO:0046872]
snps: rs4851287 rs4851287 rs773205136
name:
LON peptidase N-terminal domain and RING finger protein 2 (Neuroblastoma apoptosis-related protease) (RING finger protein 192)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q1L5Z9-1; Sequence=Displayed; Name=2; IsoId=Q1L5Z9-2; Sequence=VSP_023079; 


uniprotID: Q496Y0
geneSymbol: LONRF3
name: LON peptidase N-terminal domain and RING finger protein 3 (RING finger protein 127)
length: 759
go: ENSG00000175556;
opentargets: metal ion binding [GO:0046872]
snps: rs61730253
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q496Y0-1; Sequence=Displayed; Name=2; IsoId=Q496Y0-2; Sequence=VSP_023080; Name=3; IsoId=Q496Y0-3; Sequence=VSP_023081, VSP_023082; 


uniprotID: Q9BYJ1
geneSymbol: ALOXE3
reactome: R-HSA-2142712;
length: 711
go: ENSG00000179148;
snps: rs121434235 rs786205120 rs121434234 rs121434232 rs147149459
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|PROSITE-ProRule:PRU00726}.
name:
Hydroperoxide isomerase ALOXE3 (EC 5.4.4.7) (Epidermis-type lipoxygenase 3) (Epidermal LOX-3) (e-LOX-3) (eLOX-3) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152)

sequence:

opentargets:
cytosol [GO:0005829]; hepoxilin A3 synthase activity [GO:0051120]; iron ion binding [GO:0005506]; lyase activity [GO:0016829]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen [GO:0016702]; arachidonic acid metabolic process [GO:0019369]; ceramide biosynthetic process [GO:0046513]; establishment of skin barrier [GO:0061436]; fat cell differentiation [GO:0045444]; hepoxilin biosynthetic process [GO:0051122]; linoleic acid metabolic process [GO:0043651]; lipoxygenase pathway [GO:0019372]; peroxisome proliferator activated receptor signaling pathway [GO:0035357]; sensory perception of pain [GO:0019233]; sphingolipid metabolic process [GO:0006665]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYJ1-1; Sequence=Displayed; Name=2; IsoId=Q9BYJ1-2; Sequence=VSP_043287; Note=No experimental confirmation available.; 


uniprotID: Q9UBY5
geneSymbol: LPAR3
reactome: R-HSA-416476;R-HSA-418594;R-HSA-419408;
name: Lysophosphatidic acid receptor 3 (LPA receptor 3) (LPA-3) (Lysophosphatidic acid receptor Edg-7)
length: 353
go: ENSG00000171517;
snps: rs35745543
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
axon [GO:0030424]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G-protein alpha-subunit binding [GO:0001965]; lipid binding [GO:0008289]; lysophosphatidic acid receptor activity [GO:0070915]; phospholipid binding [GO:0005543]; activation of MAPK activity [GO:0000187]; bleb assembly [GO:0032060]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of collateral sprouting [GO:0048672]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]


uniprotID: P58215
geneSymbol: LOXL3
reactome: R-HSA-1566948;R-HSA-2243919;
name: Lysyl oxidase homolog 3 (EC 1.4.3.-) (EC 1.4.3.13) (Lysyl oxidase-like protein 3)
length: 753
go: ENSG00000115318;
snps: rs17010021 rs786204838
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; nucleus [GO:0005634]; copper ion binding [GO:0005507]; fibronectin binding [GO:0001968]; protein-lysine 6-oxidase activity [GO:0004720]; scavenger receptor activity [GO:0005044]; collagen fibril organization [GO:0030199]; epithelial to mesenchymal transition [GO:0001837]; fibronectin fibril organization [GO:1905590]; inflammatory response [GO:0006954]; lung development [GO:0030324]; negative regulation of T-helper 17 cell lineage commitment [GO:2000329]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-lysine oxidation [GO:0018057]; positive regulation of integrin-mediated signaling pathway [GO:2001046]; roof of mouth development [GO:0060021]; somite development [GO:0061053]; spinal cord development [GO:0021510]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P58215-1; Sequence=Displayed; Name=2; Synonyms=LOXL3-sv1 {ECO:0000303|PubMed:17018530}; IsoId=P58215-2; Sequence=VSP_054417; Note=Misses three SRCR domains.; Name=3; IsoId=P58215-3; Sequence=VSP_054418; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000250|UniProtKB:Q9Z175}. Cytoplasm {ECO:0000269|PubMed:28065600}. Nucleus {ECO:0000269|PubMed:28065600}. Note=It is unclear how LOXL3 is both intracellular (cytoplasmic and nuclear) and extracellular: it contains a clear signal sequence and is predicted to localize in the extracellular medium. However, the intracellular location is clearly reported and at least another protein of the family (LOXL2) also has intracellular and extracellular localization despite the presence of a signal sequence (PubMed:28065600). {ECO:0000269|PubMed:28065600}.; SUBCELLULAR LOCATION: Isoform 1: Secreted, extracellular space {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:17018530}. Secreted, extracellular space {ECO:0000269|PubMed:17018530}.


uniprotID: Q96JB6
geneSymbol: LOXL4
reactome: R-HSA-1566948;R-HSA-2243919;
length: 756
go: ENSG00000138131;
snps: rs33995374 rs11189525 rs1983864
location: SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000305}.
name:
Lysyl oxidase homolog 4 (EC 1.4.3.-) (Lysyl oxidase-like protein 4) (Lysyl oxidase-related protein C)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; membrane [GO:0016020]; receptor complex [GO:0043235]; copper ion binding [GO:0005507]; protein-lysine 6-oxidase activity [GO:0004720]; scavenger receptor activity [GO:0005044]; collagen fibril organization [GO:0030199]; peptidyl-lysine oxidation [GO:0018057]


uniprotID: Q643R3
geneSymbol: LPCAT4
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;R-HSA-1482925;R-HSA-1483166;
length: 524
go: ENSG00000176454;
name:
Lysophospholipid acyltransferase LPCAT4 (1-acylglycerol-3-phosphate O-acyltransferase 7) (1-AGP acyltransferase 7) (1-AGPAT 7) (1-acylglycerophosphocholine O-acyltransferase) (EC 2.3.1.23) (1-acylglycerophosphoserine O-acyltransferase) (EC 2.3.1.n6) (1-alkenylglycerophosphoethanolamine O-acyltransferase) (EC 2.3.1.121) (1-alkylglycerophosphocholine O-acetyltransferase) (EC 2.3.1.67) (Acyltransferase-like 3) (Lysophosphatidylcholine acyltransferase 4) (Lysophosphatidylethanolamine acyltransferase 2) (EC 2.3.1.n7) (Plasmalogen synthase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; 1-acylglycerophosphocholine O-acyltransferase activity [GO:0047184]; 1-alkenylglycerophosphoethanolamine O-acyltransferase activity [GO:0047166]; 1-alkylglycerophosphocholine O-acetyltransferase activity [GO:0047192]; 2-acylglycerol-3-phosphate O-acyltransferase activity [GO:0047144]; lysophospholipid acyltransferase activity [GO:0071617]; phosphatidic acid biosynthetic process [GO:0006654]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid metabolic process [GO:0006644]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16243729, ECO:0000269|PubMed:18458083}; Multi-pass membrane protein {ECO:0000269|PubMed:16243729, ECO:0000269|PubMed:18458083}.


uniprotID: Q14693
geneSymbol: LPIN1
reactome: R-HSA-1483191;R-HSA-1483213;R-HSA-4419969;R-HSA-75109;
name: Phosphatidate phosphatase LPIN1 (EC 3.1.3.4) (Lipin-1)
length: 890
go: ENSG00000134324;
snps: rs4669781 rs17852755
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; mitochondrial outer membrane [GO:0005741]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; phosphatidate phosphatase activity [GO:0008195]; transcription coactivator activity [GO:0003713]; animal organ regeneration [GO:0031100]; cellular response to insulin stimulus [GO:0032869]; fatty acid catabolic process [GO:0009062]; mitotic nuclear envelope disassembly [GO:0007077]; phosphatidylcholine biosynthetic process [GO:0006656]; phosphatidylethanolamine biosynthetic process [GO:0006646]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of transcription by RNA polymerase II [GO:0045944]; triglyceride biosynthetic process [GO:0019432]; triglyceride mobilization [GO:0006642]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=Alpha; IsoId=Q14693-1; Sequence=Displayed; Name=2; IsoId=Q14693-2; Sequence=VSP_045533; Note=No experimental confirmation available.; Name=3; Synonyms=Beta; IsoId=Q14693-3; Sequence=VSP_053970; Name=4; Synonyms=Gamma; IsoId=Q14693-4; Sequence=VSP_053971; Name=5; IsoId=Q14693-5; Sequence=VSP_045533, VSP_053970; Note=No experimental confirmation available.; Name=6; IsoId=Q14693-6; Sequence=VSP_045533, VSP_053970, VSP_055361, VSP_055362; Note=No experimental confirmation available.; Name=7; IsoId=Q14693-7; Sequence=VSP_055384, VSP_053970; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}.


uniprotID: Q9BQK8
geneSymbol: LPIN3
reactome: R-HSA-1483191;R-HSA-1483213;R-HSA-4419969;R-HSA-75109;
name: Phosphatidate phosphatase LPIN3 (EC 3.1.3.4) (Lipin-3) (Lipin-3-like)
length: 851
go: ENSG00000132793;
snps: rs12625565
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; nucleus [GO:0005634]; phosphatidate phosphatase activity [GO:0008195]; transcription coactivator activity [GO:0003713]; fatty acid catabolic process [GO:0009062]; phosphatidylcholine biosynthetic process [GO:0006656]; phosphatidylethanolamine biosynthetic process [GO:0006646]; positive regulation of transcription by RNA polymerase II [GO:0045944]; triglyceride biosynthetic process [GO:0019432]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQK8-1; Sequence=Displayed; Name=2; IsoId=Q9BQK8-2; Sequence=VSP_036885; Note=No experimental confirmation available.; 


uniprotID: Q86U10
geneSymbol: ASPG
reactome: R-HSA-70614;
length: 573
go: ENSG00000166183;
snps: rs1770984 rs1744284 rs8012505
name:
60 kDa lysophospholipase (EC 3.1.1.5) [Includes: L-asparaginase (EC 3.5.1.1) (L-asparagine amidohydrolase); Platelet-activating factor acetylhydrolase (PAF acetylhydrolase) (EC 3.1.1.47)]

sequence:

opentargets:
cytosol [GO:0005829]; 1-alkyl-2-acetylglycerophosphocholine esterase activity [GO:0003847]; asparaginase activity [GO:0004067]; lysophospholipase activity [GO:0004622]; cellular amino acid biosynthetic process [GO:0008652]; lipid catabolic process [GO:0016042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86U10-1; Sequence=Displayed; Name=3; IsoId=Q86U10-3; Sequence=VSP_040740; Note=May be due to a competing acceptor splice site.; 


uniprotID: Q5TA81
geneSymbol: LCE2C
reactome: R-HSA-6809371;
name: Late cornified envelope protein 2C (Late envelope protein 11)
length: 110
sequence:
MSCQQNQQQCQPPPKCPPKCTPKCPPKCPPKCPPQCPAPCFPAVSSCCGPSSGSCCGPSSGGCCSSGAGGCSLSHHRPRLFHRRRHQSPDCCESEPSGGSGCCHSSGGCC


uniprotID: O95202
geneSymbol: LETM1
reactome: R-HSA-8949215;
length: 739
go: ENSG00000168924;
name:
Mitochondrial proton/calcium exchanger protein (Leucine zipper-EF-hand-containing transmembrane protein 1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; calcium ion binding [GO:0005509]; calcium:proton antiporter activity [GO:0015369]; ribosome binding [GO:0043022]; calcium export from the mitochondrion [GO:0099093]; cristae formation [GO:0042407]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]; protein hexamerization [GO:0034214]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95202-1; Sequence=Displayed; Name=2; IsoId=O95202-2; Sequence=VSP_037814, VSP_037815, VSP_037816; Note=May be due to intron retention. No experimental confirmation available.; Name=3; IsoId=O95202-3; Sequence=VSP_037815, VSP_037816; Note=May be due to intron retention.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:14706454, ECO:0000269|PubMed:15138253, ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:19797662}; Single-pass membrane protein {ECO:0000269|PubMed:14706454, ECO:0000269|PubMed:15138253, ECO:0000269|PubMed:18628306}.


uniprotID: Q86W92
geneSymbol: PPFIBP1
reactome: R-HSA-388844;
length: 1011
go: ENSG00000110841;
snps: rs2194816
name:
Liprin-beta-1 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1) (PTPRF-interacting protein-binding protein 1) (hSGT2)

sequence:

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; cell adhesion [GO:0007155]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86W92-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q86W92-2; Sequence=VSP_009397, VSP_009398, VSP_009399, VSP_009400; Note=No experimental confirmation available. {ECO:0000244|PubMed:18669648}; Name=3; IsoId=Q86W92-3; Sequence=VSP_009394; Note=No experimental confirmation available.; Name=4; IsoId=Q86W92-4; Sequence=VSP_009397; Note=No experimental confirmation available.; Name=5; Synonyms=L2; IsoId=Q86W92-5; Sequence=VSP_009395, VSP_009396; Note=Due to intron retention.; 


uniprotID: P42898
geneSymbol: MTHFR
reactome: R-HSA-196757;
pdb: 6FCX;
name: Methylenetetrahydrofolate reductase (EC 1.5.1.20)
length: 656
go: ENSG00000177000;
drug: DB00542;DB00115;DB00544;DB00158;DB00134;DB00170;DB00563;DB00140;DB00116;
sequence:

opentargets:
cytosol [GO:0005829]; synapse [GO:0045202]; FAD binding [GO:0071949]; flavin adenine dinucleotide binding [GO:0050660]; methylenetetrahydrofolate reductase (NAD(P)H) activity [GO:0004489]; modified amino acid binding [GO:0072341]; NADP binding [GO:0050661]; protein-containing complex binding [GO:0044877]; blood circulation [GO:0008015]; cellular amino acid metabolic process [GO:0006520]; folic acid metabolic process [GO:0046655]; heterochromatin maintenance [GO:0070829]; homocysteine metabolic process [GO:0050667]; methionine biosynthetic process [GO:0009086]; methionine metabolic process [GO:0006555]; neural tube closure [GO:0001843]; one-carbon metabolic process [GO:0006730]; regulation of histone methylation [GO:0031060]; response to amino acid [GO:0043200]; response to folic acid [GO:0051593]; response to hypoxia [GO:0001666]; response to interleukin-1 [GO:0070555]; response to vitamin B2 [GO:0033274]; S-adenosylmethionine metabolic process [GO:0046500]; tetrahydrofolate interconversion [GO:0035999]

snps:
rs776483190 rs138189536 rs201618781 rs754980119 rs786204007 rs763539350 rs2066472 rs786204009 rs147257424 rs769381688 rs786204012 rs786204013 rs767890671 rs121434295 rs1182635980 rs574132670 rs760161369 rs786204014 rs1801133 rs200100285 rs748571395 rs786204017 rs786204018 rs373398993 rs786204019 rs121434297 rs267606887 rs371085894 rs748289202 rs543016186 rs368321176 rs267606886 rs786204021 rs786204022 rs779993607 rs786204023 rs786204024 rs121434296 rs750323424 rs1430872491 rs200137991 rs45571736 rs1801131 rs754015864 rs786204026 rs45496998 rs45449298 rs786204028 rs2274974 rs144508139 rs786204031 rs983672500 rs2274976 rs786204034 rs786204037 rs35737219 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P42898-1; Sequence=Displayed; Name=2; IsoId=P42898-2; Sequence=VSP_053744; 


uniprotID: Q2M296
geneSymbol: MTHFSD
pdb: 2E5J;
name: Methenyltetrahydrofolate synthase domain-containing protein
length: 383
go: ENSG00000103248;
opentargets: cytoplasm [GO:0005737]; RNA binding [GO:0003723]
snps: rs34005514 rs3751800 rs3751801 rs3751802 rs3751803
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q2M296-1; Sequence=Displayed; Name=2; IsoId=Q2M296-2; Sequence=VSP_027115; Name=3; IsoId=Q2M296-3; Sequence=VSP_044492; Name=4; IsoId=Q2M296-4; Sequence=VSP_027115, VSP_044492; 


uniprotID: O43193
geneSymbol: MLNR
reactome: R-HSA-375276;R-HSA-416476;
name: Motilin receptor (G-protein coupled receptor 38)
length: 412
go: ENSG00000102539;
drug: DB00199;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; hormone binding [GO:0042562]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=O43193-1; Sequence=Displayed; Name=B; IsoId=O43193-2; Sequence=VSP_001894; 


uniprotID: Q5VXJ0
geneSymbol: LIPK
reactome: R-HSA-6809371;
name: Lipase member K (EC 3.1.1.-) (Lipase-like abhydrolase domain-containing protein 2)
length: 399
go: ENSG00000204021;
snps: rs1214464 rs17112457
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; lipase activity [GO:0016298]; lipoprotein lipase activity [GO:0004465]; cellular lipid metabolic process [GO:0044255]; cornification [GO:0070268]; lipid catabolic process [GO:0016042]


uniprotID: P54317
geneSymbol: PNLIPRP2
reactome: R-HSA-192456;
pdb: 2OXE;2PVS;
name: Pancreatic lipase-related protein 2 (PL-RP2) (EC 3.1.1.26) (EC 3.1.1.3) (Galactolipase)
length: 469
go: ENSG00000266200;
snps: rs4751996
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:18702514, ECO:0000269|PubMed:19824014}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; 1-18:1-2-16:0-monogalactosyldiacylglycerol lipase activity [GO:0102549]; acylglycerol lipase activity [GO:0047372]; calcium ion binding [GO:0005509]; galactolipase activity [GO:0047714]; phospholipase activity [GO:0004620]; triglyceride lipase activity [GO:0004806]; cellular defense response [GO:0006968]; galactolipid catabolic process [GO:0019376]; intestinal lipid catabolic process [GO:0044258]; lipid digestion [GO:0044241]; phospholipid catabolic process [GO:0009395]; response to bacterium [GO:0009617]; triglyceride metabolic process [GO:0006641]


uniprotID: Q17RR3
geneSymbol: PNLIPRP3
reactome: R-HSA-192456;
name: Pancreatic lipase-related protein 3 (PL-RP3) (EC 3.1.1.3)
length: 467
go: ENSG00000203837;
snps: rs10885929 rs7077408 rs10736251 rs1897519 rs2116286
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; triglyceride lipase activity [GO:0004806]; lipid catabolic process [GO:0016042]


uniprotID: A6NK58
geneSymbol: LIPT2
reactome: R-HSA-389661;
length: 231
go: ENSG00000175536;
snps: rs539962457 rs753904927
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:28628643, ECO:0000269|PubMed:28757203}.
name:
Putative lipoyltransferase 2, mitochondrial (EC 2.3.1.181) (Lipoate-protein ligase B) (Lipoyl/octanoyl transferase) (Octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ligase activity [GO:0016874]; lipoyl(octanoyl) transferase activity [GO:0033819]; octanoyl transferase activity (acting on glycine-cleavage complex H protein) [GO:0102555]; cellular nitrogen compound metabolic process [GO:0034641]; positive regulation of oxygen metabolic process [GO:2000376]; protein lipoylation [GO:0009249]


uniprotID: Q6PI73
geneSymbol: LILRA6
reactome: R-HSA-198933;
length: 481
opentargets: integral component of membrane [GO:0016021]; adaptive immune response [GO:0002250]
snps: rs620207 rs1052966 rs1052975 rs8104206
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Leukocyte immunoglobulin-like receptor subfamily A member 6 (Immunoglobulin-like transcript 8) (ILT-8) (Leukocyte Ig-like receptor)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PI73-1; Sequence=Displayed; Note=Gene prediction based on similarity to chimpanzee ortholog.; Name=2; IsoId=Q6PI73-2; Sequence=VSP_038149, VSP_038150; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q8NHL6
geneSymbol: LILRB1
reactome: R-HSA-198933;
pdb: 1G0X;1P7Q;1UFU;1UGN;1VDG;3D2U;4LL9;4NO0;5KNM;
length: 650
snps: rs1061679 rs12460501 rs1061680 rs1061681 rs1045818 rs1138737 rs634222 rs16985478
name:
Leukocyte immunoglobulin-like receptor subfamily B member 1 (LIR-1) (Leukocyte immunoglobulin-like receptor 1) (CD85 antigen-like family member J) (Immunoglobulin-like transcript 2) (ILT-2) (Monocyte/macrophage immunoglobulin-like receptor 7) (MIR-7) (CD antigen CD85j)

sequence:

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; HLA-A specific inhibitory MHC class I receptor activity [GO:0030107]; HLA-B specific inhibitory MHC class I receptor activity [GO:0030109]; MHC class I protein binding [GO:0042288]; MHC class I receptor activity [GO:0032393]; protein homodimerization activity [GO:0042803]; protein phosphatase 1 binding [GO:0008157]; SH2 domain binding [GO:0042169]; adaptive immune response [GO:0002250]; cellular response to lipopolysaccharide [GO:0071222]; defense response to virus [GO:0051607]; dendritic cell differentiation [GO:0097028]; Fc receptor mediated inhibitory signaling pathway [GO:0002774]; immune response-inhibiting cell surface receptor signaling pathway [GO:0002767]; interferon-gamma production [GO:0032609]; interferon-gamma secretion [GO:0072643]; negative regulation of alpha-beta T cell activation [GO:0046636]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of CD8-positive, alpha-beta T cell activation [GO:2001186]; negative regulation of cell cycle [GO:0045786]; negative regulation of cytokine secretion involved in immune response [GO:0002740]; negative regulation of dendritic cell apoptotic process [GO:2000669]; negative regulation of dendritic cell differentiation [GO:2001199]; negative regulation of endocytosis [GO:0045806]; negative regulation of interferon-beta secretion [GO:0035548]; negative regulation of interferon-gamma biosynthetic process [GO:0045077]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-10 secretion [GO:2001180]; negative regulation of interleukin-12 secretion [GO:2001183]; negative regulation of mononuclear cell proliferation [GO:0032945]; negative regulation of natural killer cell mediated cytotoxicity [GO:0045953]; negative regulation of osteoclast development [GO:2001205]; negative regulation of serotonin secretion [GO:0014063]; negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell [GO:2001189]; negative regulation of T cell mediated cytotoxicity [GO:0001915]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of transforming growth factor-beta secretion [GO:2001202]; negative regulation of tumor necrosis factor biosynthetic process [GO:0042536]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cytolysis [GO:0045919]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of gamma-delta T cell activation involved in immune response [GO:2001193]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; receptor internalization [GO:0031623]; regulation of immune response [GO:0050776]; response to virus [GO:0009615]; signal transduction [GO:0007165]; T cell proliferation involved in immune response [GO:0002309]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NHL6-1; Sequence=Displayed; Name=2; IsoId=Q8NHL6-2; Sequence=VSP_008456; Name=3; IsoId=Q8NHL6-3; Sequence=VSP_008456, VSP_008457; Name=4; IsoId=Q8NHL6-4; Sequence=VSP_008457; Name=5; Synonyms=65 Kda, sLILRB1; IsoId=Q8NHL6-5; Sequence=VSP_008456, VSP_057087, VSP_057088; Note=May act as dominant negative regulator and block the interaction between membrane-associated isoforms and HLA-class I. {ECO:0000269|PubMed:19658091}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:19658091}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 5: Secreted {ECO:0000269|PubMed:19658091}.


uniprotID: O75019
geneSymbol: LILRA1
reactome: R-HSA-198933;
length: 489
go: ENSG00000104974;
snps: rs1974982 rs10417589 rs373854
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Leukocyte immunoglobulin-like receptor subfamily A member 1 (CD85 antigen-like family member I) (Leukocyte immunoglobulin-like receptor 6) (LIR-6) (CD antigen CD85i)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; cell surface receptor signaling pathway [GO:0007166]; defense response [GO:0006952]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=LIR-6a; IsoId=O75019-1; Sequence=Displayed; Name=2; Synonyms=LIR-6b; IsoId=O75019-2; Sequence=VSP_008454; 


uniprotID: Q8N6C8
geneSymbol: LILRA3
reactome: R-HSA-198933;R-HSA-6798695;
pdb: 3Q2C;
length: 439
snps: rs11574606 rs6509862 rs4473306
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Leukocyte immunoglobulin-like receptor subfamily A member 3 (CD85 antigen-like family member E) (Immunoglobulin-like transcript 6) (ILT-6) (Leukocyte immunoglobulin-like receptor 4) (LIR-4) (Monocyte inhibitory receptor HM43/HM31) (CD antigen CD85e)

sequence:

opentargets:
extracellular region [GO:0005576]; ficolin-1-rich granule membrane [GO:0101003]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; antigen binding [GO:0003823]; signaling receptor activity [GO:0038023]; adaptive immune response [GO:0002250]; defense response [GO:0006952]; neutrophil degranulation [GO:0043312]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N6C8-1; Sequence=Displayed; Name=2; IsoId=Q8N6C8-2; Sequence=VSP_045887; Name=3; IsoId=Q8N6C8-3; Sequence=VSP_045886; Note=No experimental confirmation available.; 


uniprotID: A6NI73
geneSymbol: LILRA5
reactome: R-HSA-198933;
pdb: 2D3V;
length: 299
go: ENSG00000187116;
name:
Leukocyte immunoglobulin-like receptor subfamily A member 5 (CD85 antigen-like family member F) (Immunoglobulin-like transcript 11) (ILT-11) (Leukocyte immunoglobulin-like receptor 9) (LIR-9) (CD antigen CD85f)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; innate immune response [GO:0045087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=LIR9m1; IsoId=A6NI73-1; Sequence=Displayed; Name=2; Synonyms=LIR9m2; IsoId=A6NI73-2; Sequence=VSP_031276; Name=3; Synonyms=LIR9s1; IsoId=A6NI73-3; Sequence=VSP_031277; Name=4; Synonyms=LIR9s2; IsoId=A6NI73-4; Sequence=VSP_031276, VSP_031277; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12393390}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000269|PubMed:12393390}.


uniprotID: O75022
geneSymbol: LILRB3
reactome: R-HSA-198933;R-HSA-6798695;
length: 631
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Leukocyte immunoglobulin-like receptor subfamily B member 3 (LIR-3) (Leukocyte immunoglobulin-like receptor 3) (CD85 antigen-like family member A) (Immunoglobulin-like transcript 5) (ILT-5) (Monocyte inhibitory receptor HL9) (CD antigen CD85a)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; cell surface receptor signaling pathway [GO:0007166]; defense response [GO:0006952]; negative regulation of osteoclast differentiation [GO:0045671]; neutrophil degranulation [GO:0043312]

snps:
rs1132588 rs678876 rs80077296 rs1052963 rs200783306 rs557014003 rs1063805 rs8105096 rs1052992 rs1132604 rs1053002 rs1053008 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75022-1; Sequence=Displayed; Name=2; IsoId=O75022-2; Sequence=VSP_008459; Note=No experimental confirmation available.; Name=3; IsoId=O75022-3; Sequence=VSP_040126; 


uniprotID: Q8NHJ6
geneSymbol: LILRB4
reactome: R-HSA-198933;
pdb: 3P2T;
length: 448
snps: rs28366008 rs11540761 rs11540762 rs731170 rs11574575 rs11574576 rs2764337 rs11574589 rs1048801
name:
Leukocyte immunoglobulin-like receptor subfamily B member 4 (CD85 antigen-like family member K) (Immunoglobulin-like transcript 3) (ILT-3) (Leukocyte immunoglobulin-like receptor 5) (LIR-5) (Monocyte inhibitory receptor HM18) (CD antigen CD85k)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; signaling receptor activity [GO:0038023]; adaptive immune response [GO:0002250]; negative regulation of osteoclast differentiation [GO:0045671]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of protein localization to nucleus [GO:1900181]; negative regulation of T cell receptor signaling pathway [GO:0050860]; positive regulation of regulatory T cell differentiation [GO:0045591]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NHJ6-1; Sequence=Displayed; Name=2; IsoId=Q8NHJ6-2; Sequence=VSP_008460; Note=Alternative use of an acceptor site. No experimental confirmation available.; Name=3; IsoId=Q8NHJ6-3; Sequence=VSP_035939; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9151699}; Single-pass type I membrane protein {ECO:0000269|PubMed:9151699}. Note=Ligand binding leads to internalization and translocation to an antigen-processing compartment.


uniprotID: Q8TD35
geneSymbol: LKAAEAR1
name: Protein LKAAEAR1 (LKAAEAR motif-containing protein 1)
length: 194
go: ENSG00000171695;
snps: rs4431000 rs77021907
sequence:
MPPPAKEGGRKGPRERSGKSAPGTAQGEERAKGAPATEPPKPGWALTPQGLAAMLPAQRHRHLLFGDLLEDVGAAASTFPCGSVEPGYRMPDPRPWTQSLELPAERQNRLLGVLKAAEARGRVRALRLRYTRMRAEEIALLIQRQKSARAAIRLELFLPPQLKPARIPDPLDRQERRRVETILEENVDGTIFPR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TD35-1; Sequence=Displayed; Name=2; IsoId=Q8TD35-2; Sequence=VSP_032961; Note=No experimental confirmation available.; 


uniprotID: Q68DH5
geneSymbol: LMBRD2
name: LMBR1 domain-containing protein 2
length: 695
go: ENSG00000164187;
opentargets: integral component of membrane [GO:0016021]; membrane [GO:0016020]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9Y468
geneSymbol: L3MBTL1
reactome: R-HSA-6804760;
length: 840
go: ENSG00000185513;
drug: DB03814;
snps: rs17857202 rs6017104
pdb:
1OYX;1OZ2;1OZ3;2PQW;2RHI;2RHU;2RHX;2RHY;2RHZ;2RI2;2RI3;2RI5;2RJC;2RJD;2RJE;2RJF;3OQ5;3P8H;3UWN;6BYB;

name:
Lethal(3)malignant brain tumor-like protein 1 (H-l(3)mbt) (H-l(3)mbt protein) (L(3)mbt-like) (L(3)mbt protein homolog) (L3MBTL1)

sequence:

opentargets:
chromatin [GO:0000785]; condensed chromosome [GO:0000793]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; histone binding [GO:0042393]; identical protein binding [GO:0042802]; methylated histone binding [GO:0035064]; nucleosomal histone binding [GO:0031493]; nucleosome binding [GO:0031491]; SAM domain binding [GO:0032093]; zinc ion binding [GO:0008270]; chromatin organization [GO:0006325]; hemopoiesis [GO:0030097]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of cell cycle [GO:0051726]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of mitotic nuclear division [GO:0007088]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=5; IsoId=Q9Y468-5; Sequence=Displayed; Name=1; Synonyms=mbt-I; IsoId=Q9Y468-1; Sequence=VSP_059458; Name=2; Synonyms=mbt-II; IsoId=Q9Y468-2; Sequence=VSP_059458, VSP_059459; Name=3; IsoId=Q9Y468-3; Sequence=VSP_003901, VSP_059459; Name=4; IsoId=Q9Y468-4; Sequence=VSP_059458, VSP_059460; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10445843}. Note=Excluded from the nucleolus. Does not colocalizes with the PcG protein BMI1, suggesting that these two proteins do not belong to the same complex.


uniprotID: Q9NUN5
geneSymbol: LMBRD1
reactome: R-HSA-196741;R-HSA-3359458;
length: 540
go: ENSG00000168216;
snps: rs12214456 rs17854411 rs12648
name:
Probable lysosomal cobalamin transporter (HDAg-L-interacting protein NESI) (LMBR1 domain-containing protein 1) (Nuclear export signal-interacting protein)

sequence:

opentargets:
clathrin-coated endocytic vesicle [GO:0045334]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cobalamin binding [GO:0031419]; cobalamin-transporting ATPase activity [GO:0015420]; insulin receptor binding [GO:0005158]; cobalamin metabolic process [GO:0009235]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NUN5-1; Sequence=Displayed; Name=2; IsoId=Q9NUN5-2; Sequence=VSP_021630, VSP_036540; Note=No experimental confirmation available.; Name=3; Synonyms=NESI; IsoId=Q9NUN5-3; Sequence=VSP_021629; Name=4; IsoId=Q9NUN5-4; Sequence=VSP_036539, VSP_021630, VSP_036540; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:19136951}; Multi-pass membrane protein {ECO:0000269|PubMed:19136951}.


uniprotID: Q8NA19
geneSymbol: L3MBTL4
length: 623
go: ENSG00000154655;
snps: rs12958879 rs3737353
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Lethal(3)malignant brain tumor-like protein 4 (H-l(3)mbt-like protein 4) (L(3)mbt-like protein 4) (L3mbt-like 4)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; zinc ion binding [GO:0008270]; chromatin organization [GO:0006325]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NA19-1; Sequence=Displayed; Name=2; IsoId=Q8NA19-2; Sequence=VSP_033863, VSP_033864; Note=No experimental confirmation available.; 


uniprotID: Q8N9Z9
geneSymbol: LMNTD1
name: Lamin tail domain-containing protein 1 (Intermediate filament tail domain-containing protein 1)
length: 388
go: ENSG00000152936;
snps: rs35450203 rs34326830 rs34732786 rs34074522 rs1479500
sequence:

opentargets:
cytoplasm [GO:0005737]; intermediate filament [GO:0005882]; nuclear envelope [GO:0005635]; structural molecule activity [GO:0005198]; cell proliferation [GO:0008283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N9Z9-1; Sequence=Displayed; Name=2; IsoId=Q8N9Z9-2; Sequence=VSP_030922; Note=No experimental confirmation available.; Name=3; IsoId=Q8N9Z9-3; Sequence=VSP_040489, VSP_040491; Name=4; IsoId=Q8N9Z9-4; Sequence=VSP_040490, VSP_040492; Name=5; IsoId=Q8N9Z9-5; Sequence=VSP_040490; 


uniprotID: P20700
geneSymbol: LMNB1
pdb: 2KPW;3JT0;3TYY;3UMN;5VVX;
name: Lamin-B1
length: 586
go: ENSG00000113368;
snps: rs1380634377 rs36105360
location: SUBCELLULAR LOCATION: Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side.
reactome:
R-HSA-1221632;R-HSA-2559584;R-HSA-2993913;R-HSA-2995383;R-HSA-352238;R-HSA-4419969;R-HSA-8862803;R-HSA-8950505;

sequence:

opentargets:
lamin filament [GO:0005638]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; nuclear matrix [GO:0016363]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; phospholipase binding [GO:0043274]; sequence-specific double-stranded DNA binding [GO:1990837]; structural molecule activity [GO:0005198]; interleukin-12-mediated signaling pathway [GO:0035722]


uniprotID: Q96Q04
geneSymbol: LMTK3
name: Serine/threonine-protein kinase LMTK3 (EC 2.7.11.1) (Lemur tyrosine kinase 3)
length: 1460
go: ENSG00000142235;
snps: rs1643478 rs1643478
sequence:

opentargets:
axon [GO:0030424]; dendrite [GO:0030425]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; negative regulation of phosphatase activity [GO:0010923]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q5XJV6}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q5XJV6}. Cell projection, axon {ECO:0000250|UniProtKB:Q5XJV6}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q5XJV6}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q5XJV6}. Note=Punctate pattern in cell projections.


uniprotID: Q8TAP4
geneSymbol: LMO3
name: LIM domain only protein 3 (LMO-3) (Neuronal-specific transcription factor DAT1) (Rhombotin-3)
length: 145
go: ENSG00000048540;
sequence:
MLSVQPDTKPKGCAGCNRKIKDRYLLKALDKYWHEDCLKCACCDCRLGEVGSTLYTKANLILCRRDYLRLFGVTGNCAACSKLIPAFEMVMRAKDNVYHLDCFACQLCNQRFCVGDKFFLKNNMILCQTDYEEGLMKEGYAPQVR

opentargets:
cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of glucocorticoid receptor signaling pathway [GO:2000324]; positive regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TAP4-1; Sequence=Displayed; Name=2; IsoId=Q8TAP4-2; Sequence=VSP_045313; Name=3; IsoId=Q8TAP4-3; Sequence=VSP_045312; Name=4; IsoId=Q8TAP4-4; Sequence=VSP_047379; 


uniprotID: Q6P5Q4
geneSymbol: LMOD2
pdb: 4RWT;5WFN;
name: Leiomodin-2 (Cardiac leiomodin) (C-LMOD) (Leiomodin)
length: 547
go: ENSG00000170807;
sequence:

opentargets:
actin filament [GO:0005884]; M band [GO:0031430]; myofibril [GO:0030016]; sarcomere [GO:0030017]; striated muscle thin filament [GO:0005865]; actin binding [GO:0003779]; actin monomer binding [GO:0003785]; tropomyosin binding [GO:0005523]; actin filament polymerization [GO:0030041]; actin nucleation [GO:0045010]; muscle contraction [GO:0006936]; myofibril assembly [GO:0030239]; pointed-end actin filament capping [GO:0051694]; positive regulation of actin filament polymerization [GO:0030838]; sarcomere organization [GO:0045214]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P5Q4-1; Sequence=Displayed; Name=2; IsoId=Q6P5Q4-2; Sequence=VSP_029526, VSP_029528; Note=No experimental confirmation available.; Name=3; IsoId=Q6P5Q4-3; Sequence=VSP_029525, VSP_029527; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:18403713, ECO:0000269|PubMed:20685966, ECO:0000269|PubMed:26370058}. Cytoplasm, myofibril {ECO:0000269|PubMed:20685966}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000269|PubMed:18403713, ECO:0000269|PubMed:20685966}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:26370058}. Note=Colocalizes with actin filaments in sarcomeres. Detected close to the M line. {ECO:0000269|PubMed:18403713, ECO:0000269|PubMed:20685966, ECO:0000269|PubMed:26370058}.


uniprotID: Q9UJU2
geneSymbol: LEF1
reactome: R-HSA-201722;R-HSA-3769402;R-HSA-4086398;R-HSA-4411364;R-HSA-4641265;R-HSA-8951430;
length: 399
go: ENSG00000138795;
snps: rs369649181
name:
Lymphoid enhancer-binding factor 1 (LEF-1) (T cell-specific transcription factor 1-alpha) (TCF1-alpha)

sequence:

opentargets:
beta-catenin-TCF complex [GO:1990907]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; transcription factor complex [GO:0005667]; armadillo repeat domain binding [GO:0070016]; beta-catenin binding [GO:0008013]; C2H2 zinc finger domain binding [GO:0070742]; chromatin binding [GO:0003682]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; DNA binding [GO:0003677]; DNA binding, bending [GO:0008301]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer binding [GO:0035326]; estrogen receptor activity [GO:0030284]; estrogen receptor binding [GO:0030331]; gamma-catenin binding [GO:0045295]; histone binding [GO:0042393]; histone deacetylase binding [GO:0042826]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulatory region DNA binding [GO:0044212]; alpha-beta T cell differentiation [GO:0046632]; anatomical structure regression [GO:0060033]; apoptotic process involved in blood vessel morphogenesis [GO:1902262]; apoptotic process involved in morphogenesis [GO:0060561]; B cell proliferation [GO:0042100]; beta-catenin-TCF complex assembly [GO:1904837]; BMP signaling pathway [GO:0030509]; branching involved in blood vessel morphogenesis [GO:0001569]; canonical Wnt signaling pathway [GO:0060070]; cell chemotaxis [GO:0060326]; cellular response to cytokine stimulus [GO:0071345]; cellular response to interleukin-4 [GO:0071353]; chorio-allantoic fusion [GO:0060710]; dentate gyrus development [GO:0021542]; embryonic limb morphogenesis [GO:0030326]; epithelial to mesenchymal transition [GO:0001837]; eye pigmentation [GO:0048069]; face morphogenesis [GO:0060325]; forebrain neuroblast division [GO:0021873]; forebrain radial glial cell differentiation [GO:0021861]; formation of radial glial scaffolds [GO:0021943]; histone H3 acetylation [GO:0043966]; histone H4 acetylation [GO:0043967]; mammary gland development [GO:0030879]; negative regulation of apoptotic process [GO:0043066]; negative regulation of apoptotic process in bone marrow [GO:0071866]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of DNA binding [GO:0043392]; negative regulation of estrogen receptor binding [GO:0071899]; negative regulation of interleukin-13 production [GO:0032696]; negative regulation of interleukin-4 production [GO:0032713]; negative regulation of interleukin-5 production [GO:0032714]; negative regulation of striated muscle tissue development [GO:0045843]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neutrophil differentiation [GO:0030223]; odontoblast differentiation [GO:0071895]; odontogenesis of dentin-containing tooth [GO:0042475]; osteoblast differentiation [GO:0001649]; paraxial mesoderm formation [GO:0048341]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of cell cycle process [GO:0090068]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell proliferation in bone marrow [GO:0071864]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of gene expression [GO:0010628]; positive regulation of granulocyte differentiation [GO:0030854]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell-cell adhesion [GO:0022407]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; regulation of Wnt signaling pathway [GO:0030111]; secondary palate development [GO:0062009]; sensory perception of taste [GO:0050909]; somitogenesis [GO:0001756]; sprouting angiogenesis [GO:0002040]; T cell receptor V(D)J recombination [GO:0033153]; T-helper 1 cell differentiation [GO:0045063]; tongue development [GO:0043586]; trachea gland development [GO:0061153]; transcription by RNA polymerase II [GO:0006366]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=A; IsoId=Q9UJU2-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=B, 8A; IsoId=Q9UJU2-2; Sequence=VSP_002188; Note=Produced by alternative splicing of isoform 1. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=LEF-1-DN; IsoId=Q9UJU2-3; Sequence=VSP_007022; Note=Produced by alternative promoter usage. Acts as dominant negative mutant.; Name=4; IsoId=Q9UJU2-4; Sequence=VSP_007022, VSP_002188; Note=Produced by alternative splicing of isoform 3.; Name=5; IsoId=Q9UJU2-5; Sequence=VSP_040068; Note=Produced by alternative splicing of isoform 1.; Name=6; IsoId=Q9UJU2-6; Sequence=VSP_040068, VSP_040069; Note=Produced by alternative splicing of isoform 1. No experimental confirmation available.; Name=7; IsoId=Q9UJU2-7; Sequence=VSP_044877, VSP_040068; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}. Note=Found in nuclear bodies upon PIASG binding. {ECO:0000250}.


uniprotID: Q6JVE5
geneSymbol: LCN12
reactome: R-HSA-804914;
name: Epididymal-specific lipocalin-12
length: 192
go: ENSG00000184925;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MRLLCGLWLWLSLLKVLQAQTPTPLPLPPPMQSFQGNQFQGEWFVLGLAGNSFRPEHRALLNAFTATFELSDDGRFEVWNAMTRGQHCDTWSYVLIPAAQPGQFTVDHGVEPGADREETRVVDSDYTQFALMLSRRHTSRLAVLRISLLGRSWLLPPGTLDQFICLGRAQGLSDDNIVFPDVTGWSPQASVC

opentargets:
extracellular region [GO:0005576]; retinoic acid binding [GO:0001972]; long-chain fatty acid transport [GO:0015909]


uniprotID: Q9BYR0
geneSymbol: KRTAP4-7
reactome: R-HSA-6805567;
length: 210
name:
Keratin-associated protein 4-7 (Keratin-associated protein 4.7) (Ultrahigh sulfur keratin-associated protein 4.7)

sequence:

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; aging [GO:0007568]; hair cycle [GO:0042633]; keratinization [GO:0031424]


uniprotID: Q9UQV4
geneSymbol: LAMP3
pdb: 4AKM;
length: 416
go: ENSG00000078081;
snps: rs17853113 rs482912
name:
Lysosome-associated membrane glycoprotein 3 (LAMP-3) (Lysosomal-associated membrane protein 3) (DC-lysosome-associated membrane glycoprotein) (DC LAMP) (Protein TSC403) (CD antigen CD208)

sequence:

opentargets:
alveolar lamellar body membrane [GO:0097233]; early endosome [GO:0005769]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; adaptive immune response [GO:0002250]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of proteasomal protein catabolic process [GO:1901799]; positive regulation of gene expression [GO:0010628]; regulation of autophagy [GO:0010506]; regulation of viral life cycle [GO:1903900]; response to interferon-alpha [GO:0035455]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:21930964, ECO:0000269|PubMed:9768752}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:9768752}; Single-pass type I membrane protein {ECO:0000255}. Note=During dendritic cell maturation, detected on cytoplasmic vesicles (the MHC II compartment) that contain MHC II proteins, LAMP1, LAMP2 and LAMP3 (PubMed:9768752). Detected on lysosomes in mature dendritic cells (PubMed:9768752). {ECO:0000269|PubMed:9768752}.


uniprotID: Q86U70
geneSymbol: LDB1
reactome: R-HSA-8939236;R-HSA-9010553;
pdb: 2XJY;2XJZ;2YPA;
length: 411
go: ENSG00000198728;
snps: rs990101456
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
LIM domain-binding protein 1 (LDB-1) (Carboxyl-terminal LIM domain-binding protein 2) (CLIM-2) (LIM domain-binding factor CLIM2) (hLdb1) (Nuclear LIM interactor)

sequence:

opentargets:
beta-catenin-TCF complex [GO:1990907]; cell leading edge [GO:0031252]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; enhancer sequence-specific DNA binding [GO:0001158]; enzyme binding [GO:0019899]; LIM domain binding [GO:0030274]; protein homodimerization activity [GO:0042803]; protein self-association [GO:0043621]; RNA polymerase II activating transcription factor binding [GO:0001102]; transcription corepressor activity [GO:0003714]; anterior/posterior axis specification [GO:0009948]; cellular component assembly [GO:0022607]; cerebellar Purkinje cell differentiation [GO:0021702]; epithelial structure maintenance [GO:0010669]; gastrulation with mouth forming second [GO:0001702]; hair follicle development [GO:0001942]; histone H3-K4 acetylation [GO:0043973]; multicellular organism development [GO:0007275]; negative regulation of erythrocyte differentiation [GO:0045647]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; positive regulation of cell adhesion [GO:0045785]; positive regulation of hemoglobin biosynthetic process [GO:0046985]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell migration [GO:0030334]; regulation of DNA-templated transcription, elongation [GO:0032784]; regulation of focal adhesion assembly [GO:0051893]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of kinase activity [GO:0043549]; regulation of transcription, DNA-templated [GO:0006355]; somatic stem cell population maintenance [GO:0035019]; transcription by RNA polymerase II [GO:0006366]; transcription, DNA-templated [GO:0006351]; transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery [GO:0000972]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86U70-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; Synonyms=b; IsoId=Q86U70-3; Sequence=VSP_027830, VSP_027831, VSP_027832; Note=Due to intron retention. Lacks LIM-binding domain.; Name=3; Synonyms=a; IsoId=Q86U70-2; Sequence=VSP_027830; 


uniprotID: O43679
geneSymbol: LDB2
length: 373
go: ENSG00000169744;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9853615}.
name:
LIM domain-binding protein 2 (LDB-2) (Carboxyl-terminal LIM domain-binding protein 1) (CLIM-1) (LIM domain-binding factor CLIM1)

sequence:

opentargets:
cell leading edge [GO:0031252]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; transcription factor complex [GO:0005667]; enzyme binding [GO:0019899]; LIM domain binding [GO:0030274]; RNA polymerase II activating transcription factor binding [GO:0001102]; transcription coregulator activity [GO:0003712]; epithelial structure maintenance [GO:0010669]; hair follicle development [GO:0001942]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cellular component biogenesis [GO:0044089]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell migration [GO:0030334]; regulation of kinase activity [GO:0043549]; somatic stem cell population maintenance [GO:0035019]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=a, CLIM1a; IsoId=O43679-1; Sequence=Displayed; Name=2; Synonyms=b, CLIM1b; IsoId=O43679-2; Sequence=VSP_027826, VSP_027827; Note=Lacks LIM-binding domain.; Name=3; IsoId=O43679-3; Sequence=VSP_027825, VSP_027828; 


uniprotID: Q6ZQX7
geneSymbol: LIAT1
name: Protein LIAT1 (Ligand of ATE1 protein)
length: 453
go: ENSG00000187624;
opentargets: protein arginylation [GO:0016598]
snps: rs4581766 rs35229416
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZQX7-1; Sequence=Displayed; Name=2; IsoId=Q6ZQX7-2; Sequence=VSP_034197, VSP_034198; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZQX7-3; Sequence=VSP_034195; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZQX7-4; Sequence=VSP_034196; Note=No experimental confirmation available.; 


uniprotID: P38571
geneSymbol: LIPA
reactome: R-HSA-8964038;
length: 399
go: ENSG00000107798;
snps: rs1051338 rs1051339 rs17850891 rs1423914418 rs121965086 rs2228159
location: SUBCELLULAR LOCATION: Lysosome.
name:
Lysosomal acid lipase/cholesteryl ester hydrolase (Acid cholesteryl ester hydrolase) (LAL) (EC 3.1.1.13) (Cholesteryl esterase) (Lipase A) (Sterol esterase)

sequence:

opentargets:
fibrillar center [GO:0001650]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; lipase activity [GO:0016298]; sterol esterase activity [GO:0004771]; cell morphogenesis [GO:0000902]; cell proliferation [GO:0008283]; cellular lipid metabolic process [GO:0044255]; cytokine production [GO:0001816]; homeostasis of number of cells within a tissue [GO:0048873]; inflammatory response [GO:0006954]; lipid catabolic process [GO:0016042]; low-density lipoprotein particle clearance [GO:0034383]; lung development [GO:0030324]; sterol metabolic process [GO:0016125]; tissue remodeling [GO:0048771]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P38571-1; Sequence=Displayed; Name=2; IsoId=P38571-2; Sequence=VSP_018596, VSP_018597; Note=No experimental confirmation available.; 


uniprotID: Q9H2C1
geneSymbol: LHX5
name: LIM/homeobox protein Lhx5 (LIM homeobox protein 5)
length: 402
go: ENSG00000089116;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; cell proliferation in forebrain [GO:0021846]; cerebellar Purkinje cell differentiation [GO:0021702]; cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation [GO:0021937]; forebrain neuron differentiation [GO:0021879]; hippocampus development [GO:0021766]; positive regulation of transcription, DNA-templated [GO:0045893]; spinal cord association neuron differentiation [GO:0021527]


uniprotID: Q9UPM6
geneSymbol: LHX6
name: LIM/homeobox protein Lhx6 (LIM homeobox protein 6) (LIM/homeobox protein Lhx6.1)
length: 363
go: ENSG00000106852;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; cell maturation [GO:0048469]; cerebral cortex GABAergic interneuron migration [GO:0021853]; cerebral cortex radially oriented cell migration [GO:0021799]; cerebral cortex tangential migration [GO:0021800]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Lhx6.1a; IsoId=Q9UPM6-1; Sequence=Displayed; Name=2; Synonyms=Lhx6.1b; IsoId=Q9UPM6-2; Sequence=VSP_003109; Name=3; IsoId=Q9UPM6-3; Sequence=VSP_037745; Name=4; IsoId=Q9UPM6-4; Sequence=VSP_037745, VSP_003109; Name=5; IsoId=Q9UPM6-5; Sequence=VSP_042073, VSP_003109; Name=6; IsoId=Q9UPM6-6; Sequence=VSP_046043; Note=No experimental confirmation available.; 


uniprotID: Q68G74
geneSymbol: LHX8
name: LIM/homeobox protein Lhx8 (LIM homeobox protein 8)
length: 356
go: ENSG00000162624;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
female germ cell nucleus [GO:0001674]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; female gonad development [GO:0008585]; forebrain neuron development [GO:0021884]; learning or memory [GO:0007611]; odontogenesis of dentin-containing tooth [GO:0042475]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q68G74-1; Sequence=Displayed; Name=2; IsoId=Q68G74-2; Sequence=VSP_047378; Note=Gene prediction based on EST data.; 


uniprotID: Q9NQ69
geneSymbol: LHX9
reactome: R-HSA-9010553;
pdb: 2DMQ;
name: LIM/homeobox protein Lhx9 (LIM homeobox protein 9)
length: 397
go: ENSG00000143355;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; cell proliferation [GO:0008283]; dorsal spinal cord interneuron anterior axon guidance [GO:0097380]; female gonad development [GO:0008585]; gonad morphogenesis [GO:0035262]; male gonad development [GO:0008584]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NQ69-1; Sequence=Displayed; Name=2; IsoId=Q9NQ69-2; Sequence=VSP_036428; Name=3; IsoId=Q9NQ69-3; Sequence=VSP_036428, VSP_036429; Name=4; IsoId=Q9NQ69-4; Sequence=VSP_036429; 


uniprotID: Q2Q1W2
geneSymbol: TRIM71
reactome: R-HSA-983168;
length: 868
go: ENSG00000206557;
location: SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:23125361, ECO:0000269|PubMed:24239284}.
name:
E3 ubiquitin-protein ligase TRIM71 (EC 2.3.2.27) (Protein lin-41 homolog) (RING-type E3 ubiquitin transferase TRIM71) (Tripartite motif-containing protein 71)

sequence:

opentargets:
P-body [GO:0000932]; miRNA binding [GO:0035198]; translation repressor activity [GO:0030371]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; 3'-UTR-mediated mRNA destabilization [GO:0061158]; fibroblast growth factor receptor signaling pathway [GO:0008543]; G1/S transition of mitotic cell cycle [GO:0000082]; miRNA mediated inhibition of translation [GO:0035278]; miRNA metabolic process [GO:0010586]; negative regulation of translation [GO:0017148]; neural tube closure [GO:0001843]; neural tube development [GO:0021915]; positive regulation of gene silencing by miRNA [GO:2000637]; posttranscriptional regulation of gene expression [GO:0010608]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein autoubiquitination [GO:0051865]; protein polyubiquitination [GO:0000209]; regulation of gene silencing by miRNA [GO:0060964]; regulation of neural precursor cell proliferation [GO:2000177]; stem cell proliferation [GO:0072089]


uniprotID: Q9UHB6
geneSymbol: LIMA1
pdb: 2D8Y;
name: LIM domain and actin-binding protein 1 (Epithelial protein lost in neoplasm)
length: 759
go: ENSG00000050405;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; brush border membrane [GO:0031526]; cleavage furrow [GO:0032154]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; stress fiber [GO:0001725]; actin filament binding [GO:0051015]; actin monomer binding [GO:0003785]; cadherin binding [GO:0045296]; metal ion binding [GO:0046872]; actin filament bundle assembly [GO:0051017]; cell migration [GO:0016477]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; intestinal cholesterol absorption [GO:0030299]; negative regulation of actin filament depolymerization [GO:0030835]; ruffle organization [GO:0031529]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=5;  Name=Beta; IsoId=Q9UHB6-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=Alpha; IsoId=Q9UHB6-2; Sequence=VSP_003116; Note=Produced by alternative promoter usage. {ECO:0000244|PubMed:22814378}; Name=3; IsoId=Q9UHB6-3; Sequence=VSP_003117; Note=Produced by alternative splicing of isoform Beta.; Name=4; IsoId=Q9UHB6-4; Sequence=VSP_040136; Note=Produced by alternative splicing. {ECO:0000244|PubMed:20068231}; Name=5; IsoId=Q9UHB6-5; Sequence=VSP_003116, VSP_040136; Note=No experimental confirmation available. {ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:22814378}; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell junction, focal adhesion {ECO:0000269|PubMed:10618726, ECO:0000269|PubMed:24694988}. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:10618726}. Cell membrane {ECO:0000250|UniProtKB:Q9ERG0}. Note=Expressed in the brush border membrane of the small intestine and colocalizes with NPC1L1 and MYO5B (PubMed:29880681). Colocalizes with PXN at focal adhesions in mesangial cells (PubMed:24694988). Colocalizes with actin stress fibers in quiescent cells. PDGF stimulation induced disassembly of stress fibers and formation of peripheral and dorsal ruffles, where LIMA1 is relocalized (By similarity). {ECO:0000250|UniProtKB:Q9ERG0, ECO:0000269|PubMed:24694988, ECO:0000269|PubMed:29880681}.


uniprotID: Q15390
geneSymbol: MTFR1
name: Mitochondrial fission regulator 1 (Chondrocyte protein with a poly-proline region)
length: 333
go: ENSG00000066855;
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; aerobic respiration [GO:0009060]; mitochondrial fission [GO:0000266]; mitochondrion organization [GO:0007005]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15390-1; Sequence=Displayed; Name=2; IsoId=Q15390-2; Sequence=VSP_046765; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Note=May be associated with the inner and the outer mitochondrial membrane. {ECO:0000250}.


uniprotID: O75081
geneSymbol: CBFA2T3
length: 653
go: ENSG00000129993;
snps: rs745972870 rs1053526 rs774310781 rs553618592
name:
Protein CBFA2T3 (MTG8-related protein 2) (Myeloid translocation gene on chromosome 16 protein) (hMTG16) (Zinc finger MYND domain-containing protein 4)

sequence:

opentargets:
Golgi membrane [GO:0000139]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; transcription corepressor activity [GO:0003714]; cell proliferation [GO:0008283]; granulocyte differentiation [GO:0030851]; negative regulation of cell proliferation [GO:0008285]; negative regulation of glycolytic process [GO:0045820]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; regulation of aerobic respiration [GO:1903715]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CBFA2T3A, MTG16a; IsoId=O75081-1; Sequence=Displayed; Name=2; Synonyms=CBFA2T3B, MTG16b; IsoId=O75081-2; Sequence=VSP_028620, VSP_028624; Name=3; Synonyms=MTG16c; IsoId=O75081-4; Sequence=VSP_028621; Note=No experimental confirmation available.; Name=4; Synonyms=MTG16HEL; IsoId=O75081-5; Sequence=VSP_028622, VSP_028623; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus. Note=The RUNX1-CBFA2T3 fusion protein localizes to the nucleoplasm.; SUBCELLULAR LOCATION: Isoform 2: Nucleus, nucleoplasm {ECO:0000269|PubMed:11823486}. Golgi apparatus membrane {ECO:0000269|PubMed:11823486}.


uniprotID: Q9NUP9
geneSymbol: LIN7C
reactome: R-HSA-212676;R-HSA-6794361;
pdb: 3LRA;
length: 197
go: ENSG00000148943;
name:
Protein lin-7 homolog C (Lin-7C) (Mammalian lin-seven protein 3) (MALS-3) (Vertebrate lin-7 homolog 3) (Veli-3)

sequence:
MAALGEPVRLERDICRAIELLEKLQRSGEVPPQKLQALQRVLQSEFCNAVREVYEHVYETVDISSSPEVRANATAKATVAAFAASEGHSHPRVVELPKTEEGLGFNIMGGKEQNSPIYISRIIPGGIADRHGGLKRGDQLLSVNGVSVEGEHHEKAVELLKAAQGKVKLVVRYTPKVLEEMESRFEKMRSAKRRQQT

opentargets:
basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; glutamatergic synapse [GO:0098978]; MPP7-DLG1-LIN7 complex [GO:0097025]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; presynapse [GO:0098793]; synapse [GO:0045202]; cytoskeletal protein binding [GO:0008092]; L27 domain binding [GO:0097016]; PDZ domain binding [GO:0030165]; protein domain specific binding [GO:0019904]; exocytosis [GO:0006887]; morphogenesis of an epithelial sheet [GO:0002011]; neurotransmitter secretion [GO:0007269]; protein localization to basolateral plasma membrane [GO:1903361]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12967566}; Peripheral membrane protein {ECO:0000269|PubMed:12967566}. Basolateral cell membrane {ECO:0000269|PubMed:12967566}; Peripheral membrane protein {ECO:0000269|PubMed:12967566}. Cell junction {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, tight junction {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Enriched in synaptosomes and at epithelial cell-cell junctions (By similarity). Mainly basolateral in renal epithelial cells. {ECO:0000250}.


uniprotID: P53671
geneSymbol: LIMK2
reactome: R-HSA-3928662;R-HSA-416572;R-HSA-5627117;
pdb: 1X6A;4TPT;5NXD;
name: LIM domain kinase 2 (LIMK-2) (EC 2.7.11.1)
length: 638
go: ENSG00000182541;
snps: rs5997917 rs35923988 rs34930775 rs34875793 rs2229874 rs35422808
sequence:

opentargets:
cis-Golgi network [GO:0005801]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton organization [GO:0030036]; cornea development in camera-type eye [GO:0061303]; head development [GO:0060322]; phosphorylation [GO:0016310]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=LIMK2a; IsoId=P53671-1; Sequence=Displayed; Name=LIMK2b; IsoId=P53671-2; Sequence=VSP_012287; Name=3; IsoId=P53671-3; Sequence=VSP_012287, VSP_043332; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform LIMK2a: Cytoplasm. Nucleus. Note=Isoform LIMK2a is distributed in the cytoplasm and the nucleus.; SUBCELLULAR LOCATION: Isoform LIMK2b: Cytoplasm. Nucleus. Note=Isoform LIMK2b occurs mainly in the cytoplasm and is scarcely translocated to the nucleus.


uniprotID: Q9H4K7
geneSymbol: MTG2
name: Mitochondrial ribosome-associated GTPase 2 (GTP-binding protein 5) (Protein obg homolog 1) (ObgH1)
length: 406
go: ENSG00000101181;
snps: rs6062133 rs11700220 rs35693261
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial ribosome [GO:0005761]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; magnesium ion binding [GO:0000287]; regulation of mitochondrial translation [GO:0070129]; regulation of respiratory system process [GO:0044065]; ribosome biogenesis [GO:0042254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H4K7-1; Sequence=Displayed; Name=2; IsoId=Q9H4K7-2; Sequence=VSP_056672; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.


uniprotID: O43439
geneSymbol: CBFA2T2
length: 604
go: ENSG00000078699;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Protein CBFA2T2 (ETO homologous on chromosome 20) (MTG8-like protein) (MTG8-related protein 1) (Myeloid translocation-related protein 1) (p85)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; transcription corepressor activity [GO:0003714]; intestinal epithelial cell differentiation [GO:0060575]; negative regulation of neuron projection development [GO:0010977]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of neuron projection development [GO:0010976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=MTGR1b; IsoId=O43439-1; Sequence=Displayed; Name=2; Synonyms=MTGR1a, EHT; IsoId=O43439-2; Sequence=VSP_008121; Name=3; IsoId=O43439-3; Sequence=VSP_008121, VSP_008123, VSP_008124; Name=4; IsoId=O43439-4; Sequence=VSP_008122; Name=5; IsoId=O43439-5; Sequence=VSP_047410; Note=No experimental confirmation available.; 


uniprotID: P0CW19
geneSymbol: LIMS3
length: 117
go: ENSG00000257207;
opentargets: cytoplasm [GO:0005737]; metal ion binding [GO:0046872]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
LIM and senescent cell antigen-like-containing domain protein 3 (Particularly interesting new Cys-His protein 3) (PINCH-3)

sequence:
MAFSGRARPCIIPENEEIPRAALNTVHEANGTEDERAVSKLQRRHSDVKVYKEFCDFYAKFNMANALASATCERCKGGFAPAETIVNSNGELYHEQCFVCAQCFQQFPEGLFYEERT

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0CW19-1; Sequence=Displayed; Name=2; IsoId=P0CW19-2; Sequence=VSP_054392; Note=No experimental confirmation available.; 


uniprotID: P0CW20
geneSymbol: LIMS4
length: 117
opentargets: metal ion binding [GO:0046872]
name:
LIM and senescent cell antigen-like-containing domain protein 4 (LIM and senescent cell antigen-like-containing domain protein 3-like)

sequence:
MAFSGRARPCIIPENEEIPRAALNTVHEANGTEDERAVSKLQRRHSDVKVYKEFCDFYAKFNMANALASATCERCKGGFAPAETIVNSNGELYHEQCFVCAQCFQQFPEGLFYEERT


uniprotID: P49914
geneSymbol: MTHFS
reactome: R-HSA-196757;
pdb: 3HXT;3HY3;3HY4;3HY6;
length: 203
go: ENSG00000136371;ENSG00000259332;
snps: rs8923
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
5-formyltetrahydrofolate cyclo-ligase (EC 6.3.3.2) (5,10-methenyl-tetrahydrofolate synthetase) (MTHFS) (Methenyl-THF synthetase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 5-formyltetrahydrofolate cyclo-ligase activity [GO:0030272]; ATP binding [GO:0005524]; folic acid binding [GO:0005542]; metal ion binding [GO:0046872]; folic acid catabolic process [GO:0046657]; folic acid metabolic process [GO:0046655]; folic acid-containing compound biosynthetic process [GO:0009396]; formate metabolic process [GO:0015942]; glutamate metabolic process [GO:0006536]; tetrahydrofolate interconversion [GO:0035999]; tetrahydrofolate metabolic process [GO:0046653]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49914-1; Sequence=Displayed; Name=2; IsoId=P49914-2; Sequence=VSP_046863; Note=No experimental confirmation available.; 


uniprotID: O95248
geneSymbol: SBF1
reactome: R-HSA-1483248;R-HSA-8876198;
name: Myotubularin-related protein 5 (SET-binding factor 1) (Sbf1)
length: 1868
go: ENSG00000100241;
snps: rs587776986 rs200488568
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9537414}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear body [GO:0016604]; phosphatase regulator activity [GO:0019208]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; phosphatidylinositol biosynthetic process [GO:0006661]; protein dephosphorylation [GO:0006470]; regulation of GTPase activity [GO:0043087]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95248-1; Sequence=Displayed; Name=4; IsoId=O95248-4; Sequence=VSP_015158; Note=No experimental confirmation available.; Name=5; IsoId=O95248-5; Sequence=VSP_059427, VSP_015158; 


uniprotID: Q9Y217
geneSymbol: MTMR6
reactome: R-HSA-1660499;
pdb: 2YF0;
name: Myotubularin-related protein 6 (EC 3.1.3.-)
length: 621
go: ENSG00000139505;
snps: rs34885345 rs7995033
location: SUBCELLULAR LOCATION: Nucleus envelope {ECO:0000269|PubMed:16787938}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear envelope [GO:0005635]; calcium-activated potassium channel activity [GO:0015269]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3,5-bisphosphate phosphatase activity [GO:0106018]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y217-1; Sequence=Displayed; Name=2; IsoId=Q9Y217-2; Sequence=VSP_036614, VSP_036615; Note=No experimental confirmation available.; 


uniprotID: Q96EF0
geneSymbol: MTMR8
reactome: R-HSA-1660499;
pdb: 4Y7I;
name: Myotubularin-related protein 8 (EC 3.1.3.-)
length: 704
go: ENSG00000102043;
location: SUBCELLULAR LOCATION: Nucleus envelope {ECO:0000269|PubMed:16787938}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear envelope [GO:0005635]; protein-containing complex [GO:0032991]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3,5-bisphosphate phosphatase activity [GO:0106018]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; protein tyrosine phosphatase activity [GO:0004725]; negative regulation of autophagy [GO:0010507]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; regulation of autophagy [GO:0010506]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96EF0-1; Sequence=Displayed; Name=2; IsoId=Q96EF0-2; Sequence=VSP_033007; Note=No experimental confirmation available.; 


uniprotID: A4FU01
geneSymbol: MTMR11
name: Myotubularin-related protein 11 (Cisplatin resistance-associated protein) (hCRA)
length: 709
go: ENSG00000014914;
opentargets: cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]
snps: rs11205303 rs16836857
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=A4FU01-1; Sequence=Displayed; Name=2; Synonyms=hCRA alpha; IsoId=A4FU01-2; Sequence=VSP_033887, VSP_033888; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=A4FU01-3; Sequence=VSP_033884, VSP_033887, VSP_033888; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=A4FU01-4; Sequence=VSP_033883, VSP_033885, VSP_033890; Name=5; Synonyms=hCRA beta; IsoId=A4FU01-5; Sequence=VSP_033886, VSP_033889; Note=No experimental confirmation available.; Name=6; IsoId=A4FU01-6; Sequence=VSP_033884, VSP_035725, VSP_035726; Note=No experimental confirmation available.; 


uniprotID: Q9C0I1
geneSymbol: MTMR12
reactome: R-HSA-1660516;
length: 747
go: ENSG00000150712;
name:
Myotubularin-related protein 12 (Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit) (3-PAP) (3-phosphatase adapter protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; phosphatase regulator activity [GO:0019208]; phosphatidylinositol biosynthetic process [GO:0006661]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9C0I1-1; Sequence=Displayed; Name=2; IsoId=Q9C0I1-2; Sequence=VSP_030722; Name=3; IsoId=Q9C0I1-3; Sequence=VSP_030721; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12847286}. Note=Localizes to punctate vesicles when associated with MTM1.


uniprotID: P11150
geneSymbol: LIPC
reactome: R-HSA-8963889;R-HSA-8964026;
name: Hepatic triacylglycerol lipase (HL) (Hepatic lipase) (EC 3.1.1.3) (Lipase member C)
length: 499
go: ENSG00000166035;
snps: rs6078 rs6083 rs121912502 rs145811475 rs3829462 rs113298164 rs142036980 rs6079
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; apolipoprotein binding [GO:0034185]; heparin binding [GO:0008201]; low-density lipoprotein particle binding [GO:0030169]; phospholipase activity [GO:0004620]; triglyceride lipase activity [GO:0004806]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; chylomicron remnant clearance [GO:0034382]; fatty acid biosynthetic process [GO:0006633]; high-density lipoprotein particle remodeling [GO:0034375]; intermediate-density lipoprotein particle remodeling [GO:0034373]; low-density lipoprotein particle remodeling [GO:0034374]; phosphatidylcholine catabolic process [GO:0034638]; regulation of lipoprotein lipase activity [GO:0051004]; reverse cholesterol transport [GO:0043691]; triglyceride catabolic process [GO:0019433]; triglyceride homeostasis [GO:0070328]; very-low-density lipoprotein particle remodeling [GO:0034372]


uniprotID: Q8NCE2
geneSymbol: MTMR14
reactome: R-HSA-1632852;R-HSA-1660499;
length: 650
go: ENSG00000163719;
snps: rs121434509 rs121434510
name:
Myotubularin-related protein 14 (EC 3.1.3.-) (HCV NS5A-transactivated protein 4 splice variant A-binding protein 1) (NS5ATP4ABP1) (hJumpy)

sequence:

opentargets:
cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; ruffle [GO:0001726]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; macroautophagy [GO:0016236]; phosphatidylinositol biosynthetic process [GO:0006661]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NCE2-1; Sequence=Displayed; Name=2; IsoId=Q8NCE2-2; Sequence=VSP_021586; Name=3; IsoId=Q8NCE2-3; Sequence=VSP_021585, VSP_021586; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17008356}. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.


uniprotID: Q9Y5X9
geneSymbol: LIPG
reactome: R-HSA-8964058;
name: Endothelial lipase (EC 3.1.1.3) (Endothelial cell-derived lipase) (EDL) (EL)
length: 500
go: ENSG00000101670;
snps: rs9963243 rs150879681 rs2000813
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome [GO:0005769]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; heparin binding [GO:0008201]; lipoprotein lipase activity [GO:0004465]; phospholipase A1 activity [GO:0008970]; phospholipase activity [GO:0004620]; cell proliferation [GO:0008283]; cholesterol homeostasis [GO:0042632]; high-density lipoprotein particle remodeling [GO:0034375]; lipid metabolic process [GO:0006629]; phospholipid catabolic process [GO:0009395]; phospholipid homeostasis [GO:0055091]; positive regulation of cholesterol transport [GO:0032376]; positive regulation of high-density lipoprotein particle clearance [GO:0010983]; regulation of lipoprotein metabolic process [GO:0050746]; response to nutrient [GO:0007584]; reverse cholesterol transport [GO:0043691]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5X9-1; Sequence=Displayed; Name=2; IsoId=Q9Y5X9-2; Sequence=VSP_013302, VSP_013303; Note=No experimental confirmation available.; 


uniprotID: Q8WWY8
geneSymbol: LIPH
reactome: R-HSA-1483166;
length: 451
go: ENSG00000163898;
snps: rs267607219
location: SUBCELLULAR LOCATION: Secreted. Membrane; Peripheral membrane protein.
name:
Lipase member H (LIPH) (EC 3.1.1.-) (LPD lipase-related protein) (Membrane-associated phosphatidic acid-selective phospholipase A1-alpha) (mPA-PLA1 alpha) (Phospholipase A1 member B)

sequence:

opentargets:
extracellular space [GO:0005615]; plasma membrane [GO:0005886]; carboxylic ester hydrolase activity [GO:0052689]; heparin binding [GO:0008201]; phospholipase activity [GO:0004620]; lipid catabolic process [GO:0016042]; phosphatidic acid biosynthetic process [GO:0006654]


uniprotID: P06858
geneSymbol: LPL
reactome: R-HSA-381340;R-HSA-8963889;R-HSA-8963901;R-HSA-975634;
name: Lipoprotein lipase (LPL) (EC 3.1.1.34)
length: 475
go: ENSG00000175445;
drug: DB09278;DB06439;
sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; chylomicron [GO:0042627]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; very-low-density lipoprotein particle [GO:0034361]; apolipoprotein binding [GO:0034185]; heparin binding [GO:0008201]; lipoprotein lipase activity [GO:0004465]; phospholipase activity [GO:0004620]; signaling receptor binding [GO:0005102]; triglyceride binding [GO:0017129]; triglyceride lipase activity [GO:0004806]; cholesterol homeostasis [GO:0042632]; chylomicron remodeling [GO:0034371]; fatty acid biosynthetic process [GO:0006633]; low-density lipoprotein particle mediated signaling [GO:0055096]; phospholipid metabolic process [GO:0006644]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of cholesterol storage [GO:0010886]; positive regulation of inflammatory response [GO:0050729]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of sequestering of triglyceride [GO:0010890]; regulation of lipoprotein lipase activity [GO:0051004]; response to bacterium [GO:0009617]; response to cold [GO:0009409]; response to drug [GO:0042493]; response to glucose [GO:0009749]; triglyceride biosynthetic process [GO:0019432]; triglyceride catabolic process [GO:0019433]; triglyceride homeostasis [GO:0070328]; triglyceride metabolic process [GO:0006641]; very-low-density lipoprotein particle remodeling [GO:0034372]

snps:
rs1801177 rs11542065 rs373088068 rs145657341 rs118204073 rs118204069 rs118204063 rs118204064 rs781614031 rs748349562 rs118204072 rs118204056 rs118204076 rs568397156 rs118204057 rs757546424 rs118204061 rs118204075 rs528243561 rs118204067 rs770601263 rs118204060 rs118204080 rs118204082 rs118204077 rs118204062 rs118204059 rs118204068 rs35414700 rs371282890 rs1800011 rs773235712 rs1409123950 rs268 rs761265900 rs1181582051 rs118204071 rs546542623 rs298 rs300 rs118204078 rs5934 rs118204079 rs149089920 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}. Secreted {ECO:0000269|PubMed:2340307, ECO:0000269|PubMed:27578112}. Note=Locates to the plasma membrane of microvilli of hepatocytes with triacyl-glycerol-rich lipoproteins (TRL). Some of the bound LPL is then internalized and located inside non-coated endocytic vesicles (By similarity). {ECO:0000250}.


uniprotID: P54315
geneSymbol: PNLIPRP1
reactome: R-HSA-192456;
pdb: 2PPL;
name: Inactive pancreatic lipase-related protein 1 (PL-RP1)
length: 467
go: ENSG00000187021;
snps: rs11197744 rs2305205 rs2305204 rs1049125
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:1379598, ECO:0000269|PubMed:19824014}.
sequence:

opentargets:
extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; triglyceride lipase activity [GO:0004806]; lipid metabolic process [GO:0006629]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P54315-1; Sequence=Displayed; Name=2; IsoId=P54315-2; Sequence=VSP_014097, VSP_014100; Name=3; IsoId=P54315-3; Sequence=VSP_014098, VSP_014099; 


uniprotID: Q5VXI9
geneSymbol: LIPN
reactome: R-HSA-6809371;
name: Lipase member N (EC 3.1.1.-) (Lipase-like abhydrolase domain-containing protein 4)
length: 398
go: ENSG00000204020;
snps: rs10788611
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; lipase activity [GO:0016298]; lipoprotein lipase activity [GO:0004465]; cellular lipid metabolic process [GO:0044255]; cornification [GO:0070268]; lipid catabolic process [GO:0016042]


uniprotID: P16233
geneSymbol: PNLIP
reactome: R-HSA-192456;R-HSA-975634;
pdb: 1LPA;1LPB;1N8S;
name: Pancreatic triacylglycerol lipase (PL) (PTL) (Pancreatic lipase) (EC 3.1.1.3)
length: 465
go: ENSG00000175535;
drug: DB04233;DB08909;DB08222;DB01083;
snps: rs746000327
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25862608}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; lipase activity [GO:0016298]; metal ion binding [GO:0046872]; triglyceride lipase activity [GO:0004806]; intestinal cholesterol absorption [GO:0030299]; lipid catabolic process [GO:0016042]; lipid metabolic process [GO:0006629]; positive regulation of triglyceride lipase activity [GO:0061365]


uniprotID: Q8N423
geneSymbol: LILRB2
reactome: R-HSA-198933;R-HSA-6798695;
pdb: 2DYP;2GW5;4LLA;
length: 598
snps: rs383369 rs373032 rs386056 rs7247538 rs7247451 rs1128646 rs7247055 rs7246737 rs7247025 rs4993133
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Leukocyte immunoglobulin-like receptor subfamily B member 2 (LIR-2) (Leukocyte immunoglobulin-like receptor 2) (CD85 antigen-like family member D) (Immunoglobulin-like transcript 4) (ILT-4) (Monocyte/macrophage immunoglobulin-like receptor 10) (MIR-10) (CD antigen CD85d)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; ficolin-1-rich granule membrane [GO:0101003]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; amyloid-beta binding [GO:0001540]; cell adhesion molecule binding [GO:0050839]; inhibitory MHC class I receptor activity [GO:0032396]; MHC class I protein binding [GO:0042288]; MHC class Ib protein binding [GO:0023029]; protein homodimerization activity [GO:0042803]; protein phosphatase 1 binding [GO:0008157]; protein-containing complex binding [GO:0044877]; adaptive immune response [GO:0002250]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cellular defense response [GO:0006968]; cellular response to lipopolysaccharide [GO:0071222]; Fc receptor mediated inhibitory signaling pathway [GO:0002774]; heterotypic cell-cell adhesion [GO:0034113]; immune response [GO:0006955]; immune response-inhibiting cell surface receptor signaling pathway [GO:0002767]; learning or memory [GO:0007611]; negative regulation of antigen processing and presentation [GO:0002578]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of postsynaptic density organization [GO:1905875]; negative regulation of protein metabolic process [GO:0051248]; negative regulation of T cell proliferation [GO:0042130]; neutrophil degranulation [GO:0043312]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of long-term synaptic depression [GO:1900454]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of regulatory T cell differentiation [GO:0045591]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T cell tolerance induction [GO:0002666]; positive regulation of tolerance induction [GO:0002645]; regulation of dendritic cell differentiation [GO:2001198]; regulation of immune response [GO:0050776]; regulation of long-term synaptic potentiation [GO:1900271]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N423-1; Sequence=Displayed; Name=2; IsoId=Q8N423-2; Sequence=VSP_008458; Note=Alternative use of an acceptor site. No experimental confirmation available.; Name=3; IsoId=Q8N423-3; Sequence=VSP_055719, VSP_055720; Name=4; IsoId=Q8N423-4; Sequence=VSP_055718; Note=Gene prediction based on cDNA data.; 


uniprotID: Q6UWW0
geneSymbol: LCN15
reactome: R-HSA-804914;
pdb: 2XST;
name: Lipocalin-15
length: 184
go: ENSG00000177984;
opentargets: extracellular region [GO:0005576]; small molecule binding [GO:0036094]
snps: rs2297723 rs2297722
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MMSFLLGAILTLLWAPTAQAEVLLQPDFNAEKFSGLWYVVSMASDCRVFLGKKDHLSMSTRAIRPTEEGGLHVHMEFPGADGCNQVDAEYLKVGSEGHFRVPALGYLDVRIVDTDYSSFAVLYIYKELEGALSTMVQLYSRTQDVSPQALKSFQDFYPTLGLPKDMMVMLPQSDACNPESKEAP


uniprotID: Q5TA82
geneSymbol: LCE2D
reactome: R-HSA-6809371;
length: 110
go: ENSG00000187223;
snps: rs11205064
name:
Late cornified envelope protein 2D (Late envelope protein 12) (Small proline-rich-like epidermal differentiation complex protein 1A)

sequence:
MSCQQNQQQCQPPPKCPPKCTPKCPPKCPPKCPPQCPAPCSPAVSSCCGPSSGSCCGPSSGGCCSSGGGGCCLSHHRPRLFHRRRHQSPDCCESEPSGASGCCHSSGGCC


uniprotID: Q9NZJ7
geneSymbol: MTCH1
name: Mitochondrial carrier homolog 1 (Presenilin-associated protein)
length: 389
go: ENSG00000137409;
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; neuronal ion channel clustering [GO:0045161]; positive regulation of apoptotic process [GO:0043065]; regulation of signal transduction [GO:0009966]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NZJ7-1; Sequence=Displayed; Name=2; IsoId=Q9NZJ7-2; Sequence=VSP_017882; Name=3; IsoId=Q9NZJ7-3; Sequence=VSP_017881, VSP_017882; Note=No experimental confirmation available.; 


uniprotID: P48742
geneSymbol: LHX1
name: LIM/homeobox protein Lhx1 (LIM homeobox protein 1) (Homeobox protein Lim-1) (hLim-1)
length: 406
go: ENSG00000273706;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; anatomical structure formation involved in morphogenesis [GO:0048646]; anatomical structure morphogenesis [GO:0009653]; animal organ morphogenesis [GO:0009887]; anterior/posterior axis specification [GO:0009948]; anterior/posterior pattern specification [GO:0009952]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell-cell signaling [GO:0007267]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cerebellar Purkinje cell differentiation [GO:0021702]; cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation [GO:0021937]; cerebellum development [GO:0021549]; cervix development [GO:0060067]; comma-shaped body morphogenesis [GO:0072049]; dorsal spinal cord interneuron posterior axon guidance [GO:0097379]; dorsal/ventral pattern formation [GO:0009953]; ectoderm formation [GO:0001705]; embryonic pattern specification [GO:0009880]; embryonic retina morphogenesis in camera-type eye [GO:0060059]; embryonic viscerocranium morphogenesis [GO:0048703]; endoderm formation [GO:0001706]; epithelium development [GO:0060429]; forebrain regionalization [GO:0021871]; gastrulation with mouth forming second [GO:0001702]; head development [GO:0060322]; horizontal cell localization [GO:0035852]; kidney development [GO:0001822]; lateral motor column neuron migration [GO:0097477]; mesonephric duct development [GO:0072177]; metanephric comma-shaped body morphogenesis [GO:0072278]; metanephric glomerulus development [GO:0072224]; metanephric part of ureteric bud development [GO:0035502]; metanephric renal vesicle morphogenesis [GO:0072283]; metanephric S-shaped body morphogenesis [GO:0072284]; motor neuron axon guidance [GO:0008045]; negative regulation of transcription, DNA-templated [GO:0045892]; nephric duct elongation [GO:0035849]; nephric duct morphogenesis [GO:0072178]; nervous system development [GO:0007399]; oviduct development [GO:0060066]; oviduct epithelium development [GO:0035846]; paramesonephric duct development [GO:0061205]; pattern specification process [GO:0007389]; positive regulation of anterior head development [GO:2000744]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of embryonic development [GO:0040019]; positive regulation of gastrulation [GO:2000543]; positive regulation of nephron tubule epithelial cell differentiation [GO:2000768]; positive regulation of transcription, DNA-templated [GO:0045893]; post-embryonic development [GO:0009791]; primitive streak formation [GO:0090009]; pronephros development [GO:0048793]; regulation of gene expression [GO:0010468]; renal vesicle morphogenesis [GO:0072077]; retina layer formation [GO:0010842]; S-shaped body morphogenesis [GO:0072050]; somite rostral/caudal axis specification [GO:0032525]; spinal cord association neuron differentiation [GO:0021527]; telencephalon development [GO:0021537]; transcription by RNA polymerase II [GO:0006366]; ureteric bud development [GO:0001657]; urogenital system development [GO:0001655]; uterine epithelium development [GO:0035847]; uterus development [GO:0060065]; vagina development [GO:0060068]; ventral spinal cord development [GO:0021517]


uniprotID: O43766
geneSymbol: LIAS
reactome: R-HSA-389661;
length: 372
go: ENSG00000121897;
drug: DB00166;
snps: rs144133667
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03123}.
name:
Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoate synthase) (LS) (Lip-syn) (Lipoic acid synthase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 4 iron, 4 sulfur cluster binding [GO:0051539]; lipoate synthase activity [GO:0016992]; metal ion binding [GO:0046872]; cellular nitrogen compound metabolic process [GO:0034641]; inflammatory response [GO:0006954]; lipoate biosynthetic process [GO:0009107]; neural tube closure [GO:0001843]; protein lipoylation [GO:0009249]; response to lipopolysaccharide [GO:0032496]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43766-1; Sequence=Displayed; Name=2; IsoId=O43766-2; Sequence=VSP_047380, VSP_047381; Note=Gene prediction based on EST data.; Name=3; IsoId=O43766-3; Sequence=VSP_054764; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: P15018
geneSymbol: LIF
reactome: R-HSA-6783783;R-HSA-6785807;R-HSA-6788467;
pdb: 1EMR;1PVH;2Q7N;
length: 202
go: ENSG00000128342;
location: SUBCELLULAR LOCATION: Secreted.
name:
Leukemia inhibitory factor (LIF) (Differentiation-stimulating factor) (D factor) (Melanoma-derived LPL inhibitor) (MLPLI) (Emfilermin)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; leukemia inhibitory factor receptor binding [GO:0005146]; signaling receptor binding [GO:0005102]; blood vessel remodeling [GO:0001974]; cytokine-mediated signaling pathway [GO:0019221]; decidualization [GO:0046697]; embryo implantation [GO:0007566]; immune response [GO:0006955]; leukemia inhibitory factor signaling pathway [GO:0048861]; lung alveolus development [GO:0048286]; lung lobe morphogenesis [GO:0060463]; lung vasculature development [GO:0060426]; multicellular organism development [GO:0007275]; muscle organ morphogenesis [GO:0048644]; negative regulation of cell proliferation [GO:0008285]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of hormone secretion [GO:0046888]; negative regulation of meiotic nuclear division [GO:0045835]; neuron development [GO:0048666]; positive regulation of astrocyte differentiation [GO:0048711]; positive regulation of cell proliferation [GO:0008284]; positive regulation of histone H3-K27 acetylation [GO:1901676]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0072108]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of cell differentiation [GO:0045595]; regulation of metanephric nephron tubule epithelial cell differentiation [GO:0072307]; regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1903025]; spongiotrophoblast differentiation [GO:0060708]; stem cell differentiation [GO:0048863]; stem cell population maintenance [GO:0019827]; trophoblast giant cell differentiation [GO:0060707]; tyrosine phosphorylation of STAT protein [GO:0007260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15018-1; Sequence=Displayed; Name=2; IsoId=P15018-2; Sequence=VSP_045551, VSP_045552; Note=No experimental confirmation available.; 


uniprotID: Q7Z6M4
geneSymbol: MTERF4
reactome: R-HSA-6793080;
pdb: 4FP9;4FZV;
length: 381
go: ENSG00000122085;
snps: rs3796093 rs2286323 rs2240539 rs10203977 rs10167328
name:
Transcription termination factor 4, mitochondrial (Mitochondrial transcription termination factor 4) (mTERF domain-containing protein 2) [Cleaved into: mTERF domain-containing protein 2 processed]

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; double-stranded DNA binding [GO:0003690]; rRNA binding [GO:0019843]; camera-type eye development [GO:0043010]; heart development [GO:0007507]; mitochondrial ribosome assembly [GO:0061668]; mitochondrial transcription [GO:0006390]; mitochondrial translation [GO:0032543]; protein targeting to mitochondrion [GO:0006626]; regulation of transcription, DNA-templated [GO:0006355]; rRNA methylation [GO:0031167]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21531335, ECO:0000269|PubMed:22949673, ECO:0000269|PubMed:23022348}.


uniprotID: Q96FE5
geneSymbol: LINGO1
reactome: R-HSA-193634;
pdb: 2ID5;4OQT;
length: 620
go: ENSG00000169783;
snps: rs9855
name:
Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 (Leucine-rich repeat and immunoglobulin domain-containing protein 1) (Leucine-rich repeat neuronal protein 1) (Leucine-rich repeat neuronal protein 6A)

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; epidermal growth factor receptor binding [GO:0005154]; negative regulation of axonogenesis [GO:0050771]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96FE5-1; Sequence=Displayed; Name=2; IsoId=Q96FE5-2; Sequence=VSP_032749; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9D1T0}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q9D1T0}.


uniprotID: P0C6S8
geneSymbol: LINGO3
length: 592
go: ENSG00000220008;
snps: rs7258841
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 (Leucine-rich repeat neuronal protein 2) (Leucine-rich repeat neuronal protein 6B)

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]


uniprotID: Q96GY3
geneSymbol: LIN37
reactome: R-HSA-1362277;R-HSA-1362300;R-HSA-1538133;R-HSA-156711;R-HSA-539107;R-HSA-69202;R-HSA-69656;
name: Protein lin-37 homolog (Antolefinin)
length: 246
go: ENSG00000267796;
snps: rs170758 rs35617825
sequence:

opentargets:
nucleoplasm [GO:0005654]; transcriptional repressor complex [GO:0017053]; regulation of cell cycle [GO:0051726]


uniprotID: O14910
geneSymbol: LIN7A
reactome: R-HSA-212676;R-HSA-6794361;
length: 233
go: ENSG00000111052;
name:
Protein lin-7 homolog A (Lin-7A) (hLin-7) (Mammalian lin-seven protein 1) (MALS-1) (Tax interaction protein 33) (TIP-33) (Vertebrate lin-7 homolog 1) (Veli-1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell-cell junction [GO:0005911]; extracellular exosome [GO:0070062]; intracellular [GO:0005622]; MPP7-DLG1-LIN7 complex [GO:0097025]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; presynapse [GO:0098793]; synapse [GO:0045202]; L27 domain binding [GO:0097016]; exocytosis [GO:0006887]; inner ear development [GO:0048839]; neurotransmitter secretion [GO:0007269]; protein localization to basolateral plasma membrane [GO:1903361]; protein transport [GO:0015031]; protein-containing complex assembly [GO:0065003]; synaptic vesicle transport [GO:0048489]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12967566}; Peripheral membrane protein {ECO:0000269|PubMed:12967566}. Basolateral cell membrane {ECO:0000269|PubMed:12967566}; Peripheral membrane protein {ECO:0000269|PubMed:12967566}. Cell junction {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, tight junction {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Enriched in synaptosomes and at epithelial cell-cell junctions (By similarity). Mainly basolateral in renal epithelial cells. {ECO:0000250}.


