# annotation

uniprotID: P29376
geneSymbol: LTK
name: Leukocyte tyrosine kinase receptor (EC 2.7.10.1) (Protein tyrosine kinase 1)
length: 864
go: ENSG00000062524;
snps: rs2305030 rs55683312 rs35932273 rs148513655 rs55876255 rs55900837 rs76282169 rs56367146
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein tyrosine kinase activity [GO:0004713]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cellular response to retinoic acid [GO:0071300]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; phosphatidylinositol 3-kinase signaling [GO:0014065]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of neuron projection development [GO:0010976]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=Lambda P2; IsoId=P29376-1; Sequence=Displayed; Name=Lambda P1; IsoId=P29376-2; Sequence=VSP_002946, VSP_002947; Name=Lambda P3; IsoId=P29376-3; Sequence=VSP_002948, VSP_002949; Name=2; IsoId=P29376-4; Sequence=VSP_035109; Name=5; IsoId=P29376-5; Sequence=VSP_035109, VSP_044521; 


uniprotID: Q14766
geneSymbol: LTBP1
reactome: R-HSA-2129379;R-HSA-381426;R-HSA-8957275;
pdb: 1KSQ;
length: 1721
go: ENSG00000049323;
name:
Latent-transforming growth factor beta-binding protein 1 (LTBP-1) (Transforming growth factor beta-1-binding protein 1) (TGF-beta1-BP-1)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; microfibril [GO:0001527]; protein-containing complex [GO:0032991]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; microfibril binding [GO:0050436]; transforming growth factor beta binding [GO:0050431]; transforming growth factor beta-activated receptor activity [GO:0005024]; aorta development [GO:0035904]; cellular protein metabolic process [GO:0044267]; coronary vasculature development [GO:0060976]; post-translational protein modification [GO:0043687]; regulation of transforming growth factor beta activation [GO:1901388]; sequestering of TGFbeta in extracellular matrix [GO:0035583]; ventricular septum development [GO:0003281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=Long; Synonyms=LTBP-1L; IsoId=Q14766-1; Sequence=Displayed; Name=Short; Synonyms=LTBP-1S; IsoId=Q14766-2, P22064-1; Sequence=VSP_036963, VSP_036964; Name=3; IsoId=Q14766-3; Sequence=VSP_036963, VSP_036964, VSP_036965; Note=No experimental confirmation available.; Name=4; IsoId=Q14766-4; Sequence=VSP_040125; Name=5; IsoId=Q14766-5; Sequence=VSP_036963, VSP_036964, VSP_040125; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16157329}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:16157329, ECO:0000269|PubMed:8617200}.


uniprotID: Q6IAA8
geneSymbol: LAMTOR1
reactome: R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-380972;R-HSA-5628897;R-HSA-6798695;R-HSA-8943724;
pdb: 5X6U;5X6V;5Y39;5Y3A;6B9X;6EHP;6EHR;
length: 161
go: ENSG00000149357;
snps: rs1053443
name:
Ragulator complex protein LAMTOR1 (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 1) (Lipid raft adaptor protein p18) (Protein associated with DRMs and endosomes) (p27Kip1-releasing factor from RhoA) (p27RF-Rho)

sequence:
MGCCYSSENEDSDQDREERKLLLDPSSPPTKALNGAEPNYHSLPSARTDEQALLSSILAKTASNIIDVSAADSQGMEQHEYMDRARQYSTRLAVLSSSLTHWKKLPPLPSLTSQPHQVLASEPIPFSDLQQVSRIAAYAYSALSQIRVDAKEELVVQFGIP

opentargets:
azurophil granule membrane [GO:0035577]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; Ragulator complex [GO:0071986]; specific granule membrane [GO:0035579]; GTPase binding [GO:0051020]; cell cycle arrest [GO:0007050]; cellular protein localization [GO:0034613]; cellular response to amino acid stimulus [GO:0071230]; cholesterol homeostasis [GO:0042632]; endosomal transport [GO:0016197]; endosome organization [GO:0007032]; lysosome localization [GO:0032418]; lysosome organization [GO:0007040]; neutrophil degranulation [GO:0043312]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of TOR signaling [GO:0032008]; regulation of cell growth [GO:0001558]; regulation of cholesterol efflux [GO:0010874]; regulation of cholesterol esterification [GO:0010872]; regulation of cholesterol import [GO:0060620]; regulation of macroautophagy [GO:0016241]; regulation of receptor recycling [GO:0001919]

location:
SUBCELLULAR LOCATION: Late endosome membrane; Lipid-anchor; Cytoplasmic side. Lysosome membrane; Lipid-anchor; Cytoplasmic side. Cell membrane.


uniprotID: Q96GA3
geneSymbol: LTV1
reactome: R-HSA-6791226;
pdb: 6G18;6G4S;6G4W;6G51;6G53;
name: Protein LTV1 homolog
length: 475
go: ENSG00000135521;
sequence:

opentargets:
cytosol [GO:0005829]; EGO complex [GO:0034448]; late endosome membrane [GO:0031902]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; preribosome, small subunit precursor [GO:0030688]; ribosomal small subunit biogenesis [GO:0042274]; ribosomal small subunit export from nucleus [GO:0000056]


uniprotID: Q86TE4
geneSymbol: LUZP2
name: Leucine zipper protein 2
length: 346
go: ENSG00000187398;
opentargets: extracellular region [GO:0005576]
snps: rs7930185
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86TE4-1; Sequence=Displayed; Name=2; IsoId=Q86TE4-2; Sequence=VSP_030520, VSP_030523; Name=3; IsoId=Q86TE4-3; Sequence=VSP_030521, VSP_030522; Name=4; IsoId=Q86TE4-4; Sequence=VSP_044970; Note=No experimental confirmation available.; 


uniprotID: P01714
geneSymbol: IGLV3-19
name: Immunoglobulin lambda variable 3-19 (Ig lambda chain V-III region SH)
length: 112
go: ENSG00000211663;
sequence:
MAWTPLWLTLLTLCIGSVVSSELTQDPAVSVALGQTVRITCQGDSLRSYYASWYQQKPGQAPVLVIYGKNNRPSGIPDRFSGSSSGNTASLTITGAQAEDEADYYCNSRDSS

opentargets:
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: A0A075B6K5
geneSymbol: IGLV3-9
name: Immunoglobulin lambda variable 3-9
length: 115
go: ENSG00000211670;
sequence:
MAWTALLLSLLAHFTGSVASYELTQPLSVSVALGQTARITCGGNNIGSKNVHWYQQKPGQAPVLVIYRDSNRPSGIPERFSGSNSGNTATLTISRAQAGDEADYYCQVWDSSTAH


uniprotID: A0A075B6I1
geneSymbol: IGLV4-60
name: Immunoglobulin lambda variable 4-60
length: 120
go: ENSG00000211639;
sequence:
MAWTPLLLLFPLLLHCTGSLSQPVLTQSSSASASLGSSVKLTCTLSSGHSSYIIAWHQQQPGKAPRYLMKLEGSGSYNKGSGVPDRFSGSSSGADRYLTISNLQFEDEADYYCETWDSNT


uniprotID: A0A075B6I9
geneSymbol: IGLV7-46
name: Immunoglobulin lambda variable 7-46
length: 117
go: ENSG00000211649;
sequence:
MAWTPLFLFLLTCCPGSNSQAVVTQEPSLTVSPGGTVTLTCGSSTGAVTSGHYPYWFQQKPGQAPRTLIYDTSNKHSWTPARFSGSLLGGKAALTLLGAQPEDEAEYYCLLSYSGAR


uniprotID: A0A075B6I0
geneSymbol: IGLV8-61
name: Immunoglobulin lambda variable 8-61
length: 122
go: ENSG00000211638;
sequence:
MSVPTMAWMMLLLGLLAYGSGVDSQTVVTQEPSFSVSPGGTVTLTCGLSSGSVSTSYYPSWYQQTPGQAPRTLIYSTNTRSSGVPDRFSGSILGNKAALTITGAQADDESDYYCVLYMGSGI


uniprotID: A0A0B4J1Y8
geneSymbol: IGLV9-49
name: Immunoglobulin lambda variable 9-49
length: 123
go: ENSG00000223350;
sequence:
MAWAPLLLTLLSLLTGSLSQPVLTQPPSASASLGASVTLTCTLSSGYSNYKVDWYQQRPGKGPRFVMRVGTGGIVGSKGDGIPDRFSVLGSGLNRYLTIKNIQEEDESDYHCGADHGSGSNFV


uniprotID: P01704
geneSymbol: IGLV2-14
pdb: 5C2B;5C6W;5CBA;5CBE;
length: 120
go: ENSG00000211666;
name:
Immunoglobulin lambda variable 2-14 (Ig lambda chain V-II region NIG-84) (Ig lambda chain V-II region TOG) (Ig lambda chain V-II region VIL)

sequence:
MAWALLLLTLLTQGTGSWAQSALTQPASVSGSPGQSITISCTGTSSDVGGYNYVSWYQQHPGKAPKLMIYEVSNRPSGVSNRFSGSKSGNTASLTISGLQAEDEADYYCSSYTSSSTLHS

opentargets:
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: P01705
geneSymbol: IGLV2-23
name: Immunoglobulin lambda variable 2-23 (Ig lambda chain V-II region NEI)
length: 113
go: ENSG00000211660;
sequence:
MAWALLLLTLLTQDTGSWAQSALTQPASVSGSPGQSITISCTGTSSDVGSYNLVSWYQQHPGKAPKLMIYEGSKRPSGVSNRFSGSKSGNTASLTISGLQAEDEADYYCCSYA


uniprotID: O94772
geneSymbol: LY6H
reactome: R-HSA-163125;
name: Lymphocyte antigen 6H (Ly-6H)
length: 140
go: ENSG00000176956;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
sequence:
MLPAAMKGLGLALLAVLLCSAPAHGLWCQDCTLTTNSSHCTPKQCQPSDTVCASVRITDPSSSRKDHSVNKMCASSCDFVKRHFFSDYLMGFINSGILKVDVDCCEKDLCNGAAGAGHSPWALAGGLLLSLGPALLWAGP

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; acetylcholine receptor binding [GO:0033130]; acetylcholine receptor inhibitor activity [GO:0030550]; acetylcholine receptor signaling pathway [GO:0095500]; animal organ morphogenesis [GO:0009887]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94772-1; Sequence=Displayed; Name=2; IsoId=O94772-2; Sequence=VSP_053497; Note=No experimental confirmation available.; 


uniprotID: Q17RY6
geneSymbol: LY6K
reactome: R-HSA-163125;
name: Lymphocyte antigen 6K (Ly-6K)
length: 165
go: ENSG00000160886;
sequence:
MALLALLLVVALPRVWTDANLTARQRDPEDSQRTDEGDNRVWCHVCERENTFECQNPRRCKWTEPYCVIAAVKIFPRFFMVAKQCSAGCAAMERPKPEEKRFLLEEPMPFFYLKCCKIRYCNLEGPPINSSVFKEYAGSMGESCGGLWLAILLLLASIAAGLSLS

opentargets:
acrosomal vesicle [GO:0001669]; anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q17RY6-1; Sequence=Displayed; Name=2; IsoId=Q17RY6-2; Sequence=VSP_045602, VSP_045603; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:18089789}. Cytoplasm {ECO:0000269|PubMed:18089789}. Cell membrane {ECO:0000250|UniProtKB:Q9CWP4}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q9CWP4}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9CWP4}. Membrane raft {ECO:0000250|UniProtKB:Q9CWP4}.


uniprotID: H3BQJ8
geneSymbol: LY6L
name: Lymphocyte antigen 6L (Lymphocyte antigen 6 complex locus protein L)
length: 138
opentargets: anchored component of membrane [GO:0031225]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000255}; Lipid-anchor, GPI-anchor {ECO:0000255}.
sequence:
MERLVLTLCTLPLAVASAGCATTPARNLSCYQCFKVSSWTECPPTWCSPLDQVCISNEVVVSFKWSVRVLLSKRCAPRCPNDNMKFEWSPAPMVQGVITRRCCSWALCNRALTPQEGRWALRGGLLLQVGLSLLRALL


uniprotID: Q9Y6Y9
geneSymbol: LY96
pdb: 1T2Z;2E56;2E59;2Z65;3FXI;3ULA;4G8A;
name: Lymphocyte antigen 96 (Ly-96) (ESOP-1) (Protein MD-2)
length: 160
go: ENSG00000154589;
drug: DB02767;DB03017;DB08231;
snps: rs6472812 rs11466004
reactome:
R-HSA-1236974;R-HSA-140534;R-HSA-166016;R-HSA-166058;R-HSA-166166;R-HSA-2562578;R-HSA-5602498;R-HSA-5603041;R-HSA-5686938;R-HSA-9014325;R-HSA-936964;R-HSA-937041;R-HSA-937072;R-HSA-975163;

sequence:
MLPFLFFSTLFSSIFTEAQKQYWVCNSSDASISYTYCDKMQYPISINVNPCIELKRSKGLLHIFYIPRRDLKQLYFNLYITVNTMNLPKRKEVICRGSDDDYSFCRALKGETVNTTISFSFKGIKFSKGKYKCVVEAISGSPEEMLFCLEFVILHQPNSN

opentargets:
endosome membrane [GO:0010008]; extracellular space [GO:0005615]; intrinsic component of plasma membrane [GO:0031226]; lipopolysaccharide receptor complex [GO:0046696]; plasma membrane [GO:0005886]; coreceptor activity [GO:0015026]; lipopolysaccharide binding [GO:0001530]; lipopolysaccharide receptor activity [GO:0001875]; Toll-like receptor 4 binding [GO:0035662]; apoptotic signaling pathway [GO:0097190]; cell surface receptor signaling pathway [GO:0007166]; cellular defense response [GO:0006968]; detection of lipopolysaccharide [GO:0032497]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; MyD88-independent toll-like receptor signaling pathway [GO:0002756]; necroptotic process [GO:0070266]; negative regulation of MyD88-independent toll-like receptor signaling pathway [GO:0034128]; positive regulation of lipopolysaccharide-mediated signaling pathway [GO:0031666]; 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]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6Y9-1; Sequence=Displayed; Name=2; IsoId=Q9Y6Y9-2; Sequence=VSP_055045; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:10359581, ECO:0000269|PubMed:11593030, ECO:0000305|PubMed:11274165}. Secreted {ECO:0000269|PubMed:11593030}. Note=Retained in the extracellular space at the cell surface by interaction with TLR4 (PubMed:10359581). {ECO:0000269|PubMed:10359581, ECO:0000269|PubMed:11593030}.


uniprotID: Q86SG7
geneSymbol: LYG2
name: Lysozyme g-like protein 2 (EC 3.2.1.-)
length: 212
go: ENSG00000185674;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; lysozyme activity [GO:0003796]; cell wall macromolecule catabolic process [GO:0016998]; defense response to bacterium [GO:0042742]; defense response to Gram-positive bacterium [GO:0050830]; peptidoglycan catabolic process [GO:0009253]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86SG7-1; Sequence=Displayed; Name=2; IsoId=Q86SG7-2; Sequence=VSP_056329; Note=No experimental confirmation available.; 


uniprotID: P12980
geneSymbol: LYL1
length: 280
go: ENSG00000104903;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Protein lyl-1 (Class A basic helix-loop-helix protein 18) (bHLHa18) (Lymphoblastic leukemia-derived sequence 1)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; B cell differentiation [GO:0030183]; blood vessel maturation [GO:0001955]; definitive hemopoiesis [GO:0060216]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q86UE4
geneSymbol: MTDH
pdb: 4QMG;
length: 582
go: ENSG00000147649;
snps: rs17854374
name:
Protein LYRIC (3D3/LYRIC) (Astrocyte elevated gene-1 protein) (AEG-1) (Lysine-rich CEACAM1 co-isolated protein) (Metadherin) (Metastasis adhesion protein)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; fibrillar center [GO:0001650]; integral component of membrane [GO:0016021]; intercellular canaliculus [GO:0046581]; nuclear body [GO:0016604]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; double-stranded RNA binding [GO:0003725]; NF-kappaB binding [GO:0051059]; RNA binding [GO:0003723]; RNA polymerase II transcription factor binding [GO:0001085]; transcription coactivator activity [GO:0003713]; bicellular tight junction assembly [GO:0070830]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of angiogenesis [GO:0045766]; positive regulation of autophagy [GO:0010508]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein kinase B signaling [GO:0051897]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cell junction, tight junction {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. Cytoplasm, perinuclear region. Note=In epithelial cells, recruited to tight junctions (TJ) during the maturation of the TJ complexes. A nucleolar staining may be due to nuclear targeting of an isoform lacking the transmembrane domain (By similarity). TNF-alpha causes translocation from the cytoplasm to the nucleus. {ECO:0000250}.


uniprotID: O43325
geneSymbol: LYRM1
name: LYR motif-containing protein 1
length: 122
go: ENSG00000102897;
opentargets: midbody [GO:0030496]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19022914}.
sequence:
MTTATRQEVLGLYRSIFRLARKWQATSGQMEDTIKEKQYILNEARTLFRKNKNLTDTDLIKQCIDECTARIEIGLHYKIPYPRPIHLPPMGLTPLRGRGLRSQEKLRKLSKPVYLRSHDEVS


uniprotID: Q5U5X0
geneSymbol: LYRM7
name: Complex III assembly factor LYRM7 (LYR motif-containing protein 7)
length: 104
go: ENSG00000186687;
snps: rs587777433
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:23168492}.
sequence:
MGRAVKVLQLFKTLHRTRQQVFKNDARALEAARIKINEEFKNNKSETSSKKIEELMKIGSDVELLLRTSVIQGIHTDHNTLKLVPRKDLLVENVPYCDAPTQKQ

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; cellular respiration [GO:0045333]; mitochondrial respiratory chain complex III assembly [GO:0034551]


uniprotID: Q99698
geneSymbol: LYST
name: Lysosomal-trafficking regulator (Beige homolog)
length: 3801
go: ENSG00000143669;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule cytoskeleton [GO:0015630]; defense response to bacterium [GO:0042742]; defense response to protozoan [GO:0042832]; defense response to virus [GO:0051607]; endosome to lysosome transport via multivesicular body sorting pathway [GO:0032510]; leukocyte chemotaxis [GO:0030595]; lysosome organization [GO:0007040]; mast cell secretory granule organization [GO:0033364]; melanosome organization [GO:0032438]; natural killer cell mediated cytotoxicity [GO:0042267]; pigmentation [GO:0043473]; protein transport [GO:0015031]

snps:
rs3768067 rs7524261 rs1063129 rs10465613 rs80338657 rs6665568 rs28942077 rs7541041 rs34642241 rs35333195 rs2753327 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q99698-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; IsoId=Q99698-2; Sequence=VSP_006781, VSP_006782; Name=3; IsoId=Q99698-3; Sequence=VSP_006779, VSP_006780; 


uniprotID: O60299
geneSymbol: LZTS3
name: Leucine zipper putative tumor suppressor 3 (ProSAP-interacting protein 1) (ProSAPiP1)
length: 673
go: ENSG00000088899;
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; regulation of dendritic spine morphogenesis [GO:0061001]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60299-1; Sequence=Displayed; Name=2; IsoId=O60299-2; Sequence=VSP_039202; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse {ECO:0000250|UniProtKB:Q8K1Q4}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q8K1Q4}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8K1Q4}. Note=Detected at synapses, postsynaptic density, synaptic spines and dendrites. Rather found at excitatory than inhibitory synapses. {ECO:0000250|UniProtKB:Q8K1Q4}.


uniprotID: Q6UWQ5
geneSymbol: LYZL1
name: Lysozyme-like protein 1 (EC 3.2.1.17)
length: 148
go: ENSG00000120563;
snps: rs3818551
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MKAAGILTLIGCLVTGAESKIYTRCKLAKIFSRAGLDNYWGFSLGNWICMAYYESGYNTTAQTVLDDGSIDYGIFQINSFAWCRRGKLKENNHCHVACSALITDDLTDAIICARKIVKETQGMNYWQGWKKHCEGRDLSEWKKGCEVS

opentargets:
extracellular region [GO:0005576]; lysozyme activity [GO:0003796]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; metabolic process [GO:0008152]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWQ5-1; Sequence=Displayed; Name=2; IsoId=Q6UWQ5-2; Sequence=VSP_019402; 


uniprotID: Q7Z4W2
geneSymbol: LYZL2
name: Lysozyme-like protein 2 (Lysozyme-2) (EC 3.2.1.17)
length: 148
go: ENSG00000151033;
snps: rs1054570
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MKAAGILTLIGCLVTGAESKIYTRCKLAKIFSRAGLDNYWGFSLGNWICMAYYESGYNTTAQTVLDDGSIDYGIFQINSFAWCRRGKLKENNHCHVACSALVTDDLTDAIICAKKIVKETQGMNYWQGWKKHCEGRDLSDWKKDCEVS

opentargets:
extracellular region [GO:0005576]; lysozyme activity [GO:0003796]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; metabolic process [GO:0008152]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z4W2-1; Sequence=Displayed; Name=2; IsoId=Q7Z4W2-2; Sequence=VSP_019717; 


uniprotID: Q96KX0
geneSymbol: LYZL4
name: Lysozyme-like protein 4 (Lysozyme-4)
length: 146
go: ENSG00000157093;
sequence:
MKASVVLSLLGYLVVPSGAYILGRCTVAKKLHDGGLDYFEGYSLENWVCLAYFESKFNPMAIYENTREGYTGFGLFQMRGSDWCGDHGRNRCHMSCSALLNPNLEKTIKCAKTIVKGKEGMGAWPTWSRYCQYSDTLARWLDGCKL

opentargets:
acrosomal vesicle [GO:0001669]; extracellular space [GO:0005615]; nucleus [GO:0005634]; sperm flagellum [GO:0036126]; lysozyme activity [GO:0003796]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; fertilization [GO:0009566]; single fertilization [GO:0007338]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9D925}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9D925}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q9D925}. Note=Found in the principal piece of sperm tail. {ECO:0000250|UniProtKB:Q9D925}.


uniprotID: Q96QH8
geneSymbol: SPACA5; SPACA5B
length: 159
go: ENSG00000171489;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Sperm acrosome-associated protein 5 (EC 3.2.1.17) (Lysozyme-like protein 5) (Sperm-specific lysozyme-like protein X) (SLLP-X)

sequence:
MKAWGTVVVTLATLMVVTVDAKIYERCELAARLERAGLNGYKGYGVGDWLCMAHYESGFDTAFVDHNPDGSSEYGIFQLNSAWWCDNGITPTKNLCHMDCHDLLNRHILDDIRCAKQIVSSQNGLSAWTSWRLHCSGHDLSEWLKGCDMHVKIDPKIHP

opentargets:
extracellular region [GO:0005576]; lysozyme activity [GO:0003796]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; metabolic process [GO:0008152]


uniprotID: Q9UI17
geneSymbol: DMGDH
reactome: R-HSA-6798163;
pdb: 5L46;
name: Dimethylglycine dehydrogenase, mitochondrial (EC 1.5.8.4) (ME2GLYDH)
length: 866
go: ENSG00000132837;
snps: rs121908331 rs532964 rs1805073 rs1805074
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; dimethylglycine dehydrogenase activity [GO:0047865]; electron transfer activity [GO:0009055]; oxidoreductase activity [GO:0016491]; RNA binding [GO:0003723]; amino-acid betaine catabolic process [GO:0006579]; choline catabolic process [GO:0042426]; choline metabolic process [GO:0019695]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UI17-1; Sequence=Displayed; Name=2; IsoId=Q9UI17-2; Sequence=VSP_056959, VSP_056960, VSP_056961, VSP_056962; Note=No experimental confirmation available.; 


uniprotID: Q6ZMV7
geneSymbol: LEKR1
name: Leucine-, glutamate- and lysine-rich protein 1
length: 388
go: ENSG00000197980;
snps: rs61469347
sequence:


uniprotID: Q15139
geneSymbol: PRKD1
reactome: R-HSA-1660661;
length: 912
go: ENSG00000184304;
snps: rs1057519636 rs55852813 rs1057519635 rs34588699 rs11161065 rs45582934
name:
Serine/threonine-protein kinase D1 (EC 2.7.11.13) (Protein kinase C mu type) (Protein kinase D) (nPKC-D1) (nPKC-mu)

sequence:

opentargets:
autophagosome membrane [GO:0000421]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; cellular response to amino acid starvation [GO:0034198]; cellular response to hydroperoxide [GO:0071447]; cellular response to oxidative stress [GO:0034599]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; Golgi organization [GO:0007030]; Golgi vesicle transport [GO:0048193]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; integrin-mediated signaling pathway [GO:0007229]; intracellular signal transduction [GO:0035556]; negative regulation of cell death [GO:0060548]; negative regulation of endocytosis [GO:0045806]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of angiogenesis [GO:0045766]; positive regulation of autophagy [GO:0010508]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway [GO:0038033]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of histone deacetylase activity [GO:1901727]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of neuron projection development [GO:0010976]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein autophosphorylation [GO:0046777]; protein kinase D signaling [GO:0089700]; protein phosphorylation [GO:0006468]; Ras protein signal transduction [GO:0007265]; regulation of integrin-mediated signaling pathway [GO:2001044]; regulation of keratinocyte proliferation [GO:0010837]; regulation of protein stability [GO:0031647]; signal transduction [GO:0007165]; sphingolipid biosynthetic process [GO:0030148]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18076381}. Cell membrane {ECO:0000269|PubMed:18076381}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q62101}. Note=Translocation to the cell membrane is required for kinase activation.


uniprotID: Q86UP2
geneSymbol: KTN1
reactome: R-HSA-381426;R-HSA-5625970;R-HSA-8957275;
name: Kinectin (CG-1 antigen) (Kinesin receptor)
length: 1357
go: ENSG00000126777;
snps: rs2274073 rs372815686
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; cadherin binding [GO:0045296]; kinesin binding [GO:0019894]; RNA binding [GO:0003723]; cellular protein metabolic process [GO:0044267]; microtubule-based movement [GO:0007018]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q86UP2-1; Sequence=Displayed; Name=2; IsoId=Q86UP2-2; Sequence=VSP_007981, VSP_007982; Name=3; IsoId=Q86UP2-3; Sequence=VSP_043207, VSP_007982; Name=4; IsoId=Q86UP2-4; Sequence=VSP_007982; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Vesicle membrane protein anchored to the endoplasmic reticulum.


uniprotID: Q969R5
geneSymbol: L3MBTL2
reactome: R-HSA-4551638;R-HSA-8953750;
pdb: 2W0T;3CEY;3F70;
name: Lethal(3)malignant brain tumor-like protein 2 (H-l(3)mbt-like protein 2) (L(3)mbt-like protein 2)
length: 705
go: ENSG00000100395;
snps: rs3804097 rs2277846 rs34289721
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone binding [GO:0042393]; methylated histone binding [GO:0035064]; zinc ion binding [GO:0008270]; chromatin organization [GO:0006325]; negative regulation of G0 to G1 transition [GO:0070317]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=Q969R5-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q969R5-2; Sequence=VSP_003904, VSP_003905; Name=3; IsoId=Q969R5-3; Sequence=VSP_003906, VSP_003907; 


uniprotID: Q9BRT6
geneSymbol: LLPH
name: Protein LLP homolog (Protein LAPS18-like)
length: 129
go: ENSG00000139233;
sequence:
MAKSLRSKWKRKMRAEKRKKNAPKEASRLKSILKLDGDVLMKDVQEIATVVVPKPKHCQEKMQCEVKDEKDDMKMETDIKRNKKTLLDQHGQYPIWMNQRQRKRLKAKREKRKGKSKAKAVKVAKGLAW

opentargets:
chromosome [GO:0005694]; nucleolus [GO:0005730]; basal RNA polymerase II transcription machinery binding [GO:0001099]; RNA binding [GO:0003723]; dendrite extension [GO:0097484]; positive regulation of dendritic spine development [GO:0060999]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250|UniProtKB:Q9D945}. Chromosome {ECO:0000269|PubMed:20813266}. Note=Cell-permeable protein. 22 hours after injection in the hippocampal area CA1, internalized by most cells at the injection site (By similarity). Localizes at the chromosome periphery during mitosis (PubMed:20813266). {ECO:0000250|UniProtKB:Q9D945, ECO:0000269|PubMed:20813266}.


uniprotID: P55344
geneSymbol: LIM2
name: Lens fiber membrane intrinsic protein (MP18) (MP19) (MP20)
length: 173
go: ENSG00000105370;
snps: rs121913555
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:
MYSFMGGGLFCAWVGTILLVVAMATDHWMQYRLSGSFAHQGLWRYCLGNKCYLQTDSIAYWNATRAFMILSALCAISGIIMGIMAFAHQPTFSRISRPFSAGIMFFSSTLFVVLALAIYTGVTVSFLGRRFGDWRFSWSYILGWVAVLMTFFAGIFYMCAYRVHECRRLSTPR

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; structural constituent of eye lens [GO:0005212]; cell-cell junction assembly [GO:0007043]; lens development in camera-type eye [GO:0002088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55344-1; Sequence=Displayed; Name=2; Synonyms=MP19ins; IsoId=P55344-2; Sequence=VSP_005073; 


uniprotID: Q96L50
geneSymbol: LRR1
reactome: R-HSA-8951664;R-HSA-983168;
length: 414
go: ENSG00000165501;
snps: rs17121605 rs7148147
name:
Leucine-rich repeat protein 1 (4-1BB-mediated-signaling molecule) (4-1BBlrr) (LRR-repeat protein 1) (LRR-1) (Peptidylprolyl isomerase-like 5)

sequence:

opentargets:
cytosol [GO:0005829]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=LRR-1a; IsoId=Q96L50-1; Sequence=Displayed; Name=2; Synonyms=LRR-1b; IsoId=Q96L50-2; Sequence=VSP_008363, VSP_008364; 


uniprotID: Q9C0E8
geneSymbol: LNPK
name: Endoplasmic reticulum junction formation protein lunapark (ER junction formation factor lunapark)
length: 428
go: ENSG00000144320;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum tubular network [GO:0071782]; endoplasmic reticulum tubular network membrane [GO:0098826]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; blood coagulation [GO:0007596]; embryonic digit morphogenesis [GO:0042733]; embryonic forelimb morphogenesis [GO:0035115]; endoplasmic reticulum tubular network maintenance [GO:0071788]; endoplasmic reticulum tubular network organization [GO:0071786]; limb development [GO:0060173]; positive regulation of endoplasmic reticulum tubular network organization [GO:1903373]; regulation of chondrocyte differentiation [GO:0032330]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9C0E8-1; Sequence=Displayed; Name=2; IsoId=Q9C0E8-2; Sequence=VSP_020239; Note=No experimental confirmation available.; Name=3; IsoId=Q9C0E8-3; Sequence=VSP_020238; Note=No experimental confirmation available.; Name=4; IsoId=Q9C0E8-4; Sequence=VSP_054427; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22729086, ECO:0000269|PubMed:24223779, ECO:0000269|PubMed:25404289, ECO:0000269|PubMed:25548161, ECO:0000269|PubMed:27619977}; Multi-pass membrane protein {ECO:0000269|PubMed:22729086, ECO:0000269|PubMed:24223779}; Cytoplasmic side {ECO:0000269|PubMed:24223779, ECO:0000269|PubMed:25548161}. Note=Localizes at endoplasmic reticulum (ER) three-way tubular junctions, which represent crossing-points at which the tubules build a polygonal network (PubMed:22729086, PubMed:24223779, PubMed:25404289, PubMed:25548161, PubMed:27619977). {ECO:0000269|PubMed:22729086, ECO:0000269|PubMed:24223779, ECO:0000269|PubMed:25404289, ECO:0000269|PubMed:25548161, ECO:0000269|PubMed:27619977}.


uniprotID: P61968
geneSymbol: LMO4
pdb: 2L4Z;
name: LIM domain transcription factor LMO4 (Breast tumor autoantigen) (LIM domain only protein 4) (LMO-4)
length: 165
go: ENSG00000143013;
sequence:
MVNPGSSSQPPPVTAGSLSWKRCAGCGGKIADRFLLYAMDSYWHSRCLKCSCCQAQLGDIGTSCYTKSGMILCRNDYIRLFGNSGACSACGQSIPASELVMRAQGNVYHLKCFTCSTCRNRLVPGDRFHYINGSLFCEHDRPTALINGHLNSLQSNPLLPDQKVC

opentargets:
cell leading edge [GO:0031252]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity [GO:0003700]; enhancer sequence-specific DNA binding [GO:0001158]; metal ion binding [GO:0046872]; transcription factor binding [GO:0008134]; negative regulation of protein complex assembly [GO:0031333]; neural tube closure [GO:0001843]; positive regulation of kinase activity [GO:0033674]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell activation [GO:0050865]; regulation of cell fate specification [GO:0042659]; regulation of cell migration [GO:0030334]; spinal cord association neuron differentiation [GO:0021527]; spinal cord motor neuron differentiation [GO:0021522]; thymus development [GO:0048538]; transcription by RNA polymerase II [GO:0006366]; ventral spinal cord interneuron differentiation [GO:0021514]; ventricular septum development [GO:0003281]


uniprotID: Q9H9Z2
geneSymbol: LIN28A
reactome: R-HSA-452723;
pdb: 2CQF;2LI8;5UDZ;
name: Protein lin-28 homolog A (Lin-28A) (Zinc finger CCHC domain-containing protein 1)
length: 209
go: ENSG00000131914;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; P-body [GO:0000932]; polysome [GO:0005844]; ribonucleoprotein complex [GO:1990904]; rough endoplasmic reticulum [GO:0005791]; DNA binding [GO:0003677]; G-quadruplex RNA binding [GO:0002151]; miRNA binding [GO:0035198]; polysome binding [GO:1905538]; RNA binding [GO:0003723]; sequence-specific mRNA binding [GO:1990825]; translation initiation factor binding [GO:0031369]; zinc ion binding [GO:0008270]; cellular response to glucose stimulus [GO:0071333]; germ cell development [GO:0007281]; miRNA catabolic process [GO:0010587]; negative regulation of glial cell differentiation [GO:0045686]; negative regulation of translation [GO:0017148]; positive regulation of cell proliferation involved in kidney development [GO:1901724]; positive regulation of cytoplasmic translation [GO:2000767]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903800]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of TOR signaling [GO:0032008]; pre-miRNA processing [GO:0031054]; regulation of transcription, DNA-templated [GO:0006355]; RNA 3'-end processing [GO:0031123]; somatic stem cell population maintenance [GO:0035019]; stem cell differentiation [GO:0048863]; stem cell population maintenance [GO:0019827]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18951094, ECO:0000269|PubMed:22118463}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:Q8K3Y3}. Cytoplasm, P-body {ECO:0000269|PubMed:17617744}. Cytoplasm, Stress granule {ECO:0000269|PubMed:17617744}. Nucleus, nucleolus {ECO:0000250|UniProtKB:Q8K3Y3}. Note=Predominantly cytoplasmic (PubMed:22118463). In the cytoplasm, localizes to peri-endoplasmic reticulum regions and detected in the microsomal fraction derived from rough endoplasmic reticulum (RER) following subcellular fractionation. May be bound to the cytosolic surface of RER on which ER-associated mRNAs are translated (By similarity). Shuttle from the nucleus to the cytoplasm requires RNA-binding (PubMed:17617744). Nucleolar localization is observed in 10-15% of the nuclei in differentiated myotubes (By similarity). {ECO:0000250|UniProtKB:Q8K3Y3, ECO:0000269|PubMed:17617744, ECO:0000269|PubMed:22118463}.


uniprotID: Q17RB8
geneSymbol: LONRF1
reactome: R-HSA-983168;
name: LON peptidase N-terminal domain and RING finger protein 1 (RING finger protein 191)
length: 773
go: ENSG00000154359;
snps: rs1139354
sequence:

opentargets:
cytosol [GO:0005829]; metal ion binding [GO:0046872]; ubiquitin-protein transferase activity [GO:0004842]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q17RB8-1; Sequence=Displayed; Name=2; IsoId=Q17RB8-2; Sequence=VSP_037971; 


uniprotID: P36776
geneSymbol: LONP1
pdb: 2X36;
length: 959
go: ENSG00000196365;
name:
Lon protease homolog, mitochondrial (EC 3.4.21.53) (LONHs) (Lon protease-like protein) (LONP) (Mitochondrial ATP-dependent protease Lon) (Serine protease 15)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; ATP-dependent peptidase activity [GO:0004176]; DNA polymerase binding [GO:0070182]; G-quadruplex DNA binding [GO:0051880]; mitochondrial promoter sequence-specific DNA binding [GO:0001018]; sequence-specific DNA binding [GO:0043565]; serine-type endopeptidase activity [GO:0004252]; single-stranded DNA binding [GO:0003697]; single-stranded RNA binding [GO:0003727]; aging [GO:0007568]; cellular response to oxidative stress [GO:0034599]; chaperone-mediated protein complex assembly [GO:0051131]; mitochondrial DNA metabolic process [GO:0032042]; mitochondrial genome maintenance [GO:0000002]; mitochondrion organization [GO:0007005]; oxidation-dependent protein catabolic process [GO:0070407]; protein homooligomerization [GO:0051260]; protein quality control for misfolded or incompletely synthesized proteins [GO:0006515]; proteolysis involved in cellular protein catabolic process [GO:0051603]; response to aluminum ion [GO:0010044]; response to hormone [GO:0009725]; response to hypoxia [GO:0001666]

snps:
rs34413649 rs11085147 rs879255248 rs770036526 rs777009012 rs879255247 rs549574673 rs147588238 rs879255249 rs562553348 rs35804229 rs1062373 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P36776-1; Sequence=Displayed; Name=2; IsoId=P36776-2; Sequence=VSP_054617; Note=No experimental confirmation available.; Name=3; IsoId=P36776-3; Sequence=VSP_055310; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000255|HAMAP-Rule:MF_03120, ECO:0000269|PubMed:7961901}.


uniprotID: P23490
geneSymbol: LOR
reactome: R-HSA-6809371;
name: Loricrin
length: 312
go: ENSG00000203782;
snps: rs6661601 rs11275959 rs56816110
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleoplasm.
sequence:

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; protein binding, bridging [GO:0030674]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of epidermis [GO:0030280]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: Q8IVV2
geneSymbol: LOXHD1
name: Lipoxygenase homology domain-containing protein 1
length: 2067
go: ENSG00000167210;
snps: rs10163657 rs34589386 rs35088381 rs16978578 rs36086089 rs7244681 rs12606417
location: SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250}.
sequence:

opentargets:
stereocilium [GO:0032420]; catalase activity [GO:0004096]; heme binding [GO:0020037]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IVV2-1; Sequence=Displayed; Note=No experimental confirmation available. Based on EST and orthology. {ECO:0000305}; Name=3; IsoId=Q8IVV2-3; Sequence=VSP_059671, VSP_059672, VSP_059674; Name=4; IsoId=Q8IVV2-4; Sequence=VSP_028947, VSP_059673; Note=No experimental confirmation available.; Name=5; IsoId=Q8IVV2-5; Sequence=VSP_028947; Note=No experimental confirmation available.; 


uniprotID: Q99677
geneSymbol: LPAR4
reactome: R-HSA-416476;R-HSA-417957;
length: 370
go: ENSG00000147145;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Lysophosphatidic acid receptor 4 (LPA receptor 4) (LPA-4) (G-protein coupled receptor 23) (P2Y purinoceptor 9) (P2Y9) (P2Y5-like receptor) (Purinergic receptor 9)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; nuclear body [GO:0016604]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; lysophosphatidic acid binding [GO:0035727]; lysophosphatidic acid receptor activity [GO:0070915]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of Rho protein signal transduction [GO:0035025]


uniprotID: Q9Y4K0
geneSymbol: LOXL2
reactome: R-HSA-1566948;R-HSA-2243919;
pdb: 5ZE3;
length: 774
go: ENSG00000134013;
snps: rs4602894 rs1063582
name:
Lysyl oxidase homolog 2 (EC 1.4.3.13) (Lysyl oxidase-like protein 2) (Lysyl oxidase-related protein 2) (Lysyl oxidase-related protein WS9-14)

sequence:

opentargets:
basement membrane [GO:0005604]; chromatin [GO:0000785]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; copper ion binding [GO:0005507]; electron transfer activity [GO:0009055]; oligosaccharide binding [GO:0070492]; protein-lysine 6-oxidase activity [GO:0004720]; scavenger receptor activity [GO:0005044]; aging [GO:0007568]; cell adhesion [GO:0007155]; cellular protein modification process [GO:0006464]; collagen fibril organization [GO:0030199]; endothelial cell migration [GO:0043542]; endothelial cell proliferation [GO:0001935]; epithelial to mesenchymal transition [GO:0001837]; heterochromatin organization [GO:0070828]; negative regulation of stem cell population maintenance [GO:1902455]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-lysine oxidation [GO:0018057]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; response to copper ion [GO:0046688]; response to hypoxia [GO:0001666]; sprouting angiogenesis [GO:0002040]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:23319596}. Nucleus {ECO:0000269|PubMed:22204712, ECO:0000269|PubMed:24414204}. Chromosome {ECO:0000269|PubMed:27735137}. Endoplasmic reticulum {ECO:0000269|PubMed:28332555}. Note=Associated with chromatin (PubMed:27735137). It is unclear how LOXL2 is nuclear as it contains a signal sequence and has been shown to be secreted (PubMed:23319596). However, a number of reports confirm its intracellular location and its key role in transcription regulation (PubMed:22204712, PubMed:22483618). {ECO:0000269|PubMed:22204712, ECO:0000269|PubMed:23319596, ECO:0000269|PubMed:24414204, ECO:0000269|PubMed:27735137}.


uniprotID: P09848
geneSymbol: LCT
reactome: R-HSA-189085;R-HSA-5659898;
length: 1927
go: ENSG00000115850;
drug: DB04282;DB03389;DB04779;DB04564;DB02471;DB00126;
snps: rs35156533 rs3754689 rs121908937 rs4954449 rs386833833 rs35891837 rs2322659
location: SUBCELLULAR LOCATION: Apical cell membrane; Single-pass type I membrane protein. Note=Brush border.
name:
Lactase-phlorizin hydrolase (Lactase-glycosylceramidase) [Includes: Lactase (EC 3.2.1.108); Phlorizin hydrolase (EC 3.2.1.62)]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; beta-glucosidase activity [GO:0008422]; glycosylceramidase activity [GO:0017042]; lactase activity [GO:0000016]; carbohydrate metabolic process [GO:0005975]; polysaccharide digestion [GO:0044245]


uniprotID: Q9Y4Y9
geneSymbol: LSM5
reactome: R-HSA-430039;R-HSA-72163;
pdb: 3JCR;5O9Z;
name: U6 snRNA-associated Sm-like protein LSm5
sequence: MAANATTNPSQLLPLELVDKCIGSRIHIVMKSDKEIVGTLLGFDDFVNMVLEDVTEFEITPEGRRITKLDQILLNGNNITMLVPGGEGPEV
length: 91
go: ENSG00000106355;
opentargets:
cytosol [GO:0005829]; Lsm1-7-Pat1 complex [GO:1990726]; Lsm2-8 complex [GO:0120115]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U6 snRNP [GO:0005688]; RNA binding [GO:0003723]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y4Y9-1; Sequence=Displayed; Name=2; IsoId=Q9Y4Y9-2; Sequence=VSP_040991; 


uniprotID: Q8N2S1
geneSymbol: LTBP4
reactome: R-HSA-2129379;
name: Latent-transforming growth factor beta-binding protein 4 (LTBP-4)
length: 1624
go: ENSG00000090006;
snps: rs2303729 rs267607229 rs33937741 rs34299942 rs1131620 rs1051303 rs10880
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; glycosaminoglycan binding [GO:0005539]; integrin binding [GO:0005178]; transforming growth factor beta binding [GO:0050431]; transforming growth factor beta-activated receptor activity [GO:0005024]; growth hormone secretion [GO:0030252]; multicellular organism development [GO:0007275]; protein folding [GO:0006457]; regulation of cell differentiation [GO:0045595]; regulation of cell growth [GO:0001558]; regulation of proteolysis [GO:0030162]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=LTBP-4L; IsoId=Q8N2S1-1; Sequence=Displayed; Name=2; Synonyms=LTBP-4S; IsoId=Q8N2S1-2; Sequence=VSP_029364, VSP_029365; Name=3; IsoId=Q8N2S1-3; Sequence=VSP_029363; Name=4; IsoId=Q8N2S1-4; Sequence=VSP_029362, VSP_029366, VSP_029367; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:16157329, ECO:0000269|PubMed:9660815}.


uniprotID: Q9BVC4
geneSymbol: MLST8
pdb: 4JSN;4JSP;4JSV;4JSX;4JT5;4JT6;5FLC;5H64;5WBU;5WBY;5ZCS;6BCU;6BCX;
length: 326
go: ENSG00000167965;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
reactome:
R-HSA-1257604;R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-3371571;R-HSA-380972;R-HSA-389357;R-HSA-5218920;R-HSA-5628897;R-HSA-5674400;R-HSA-6804757;R-HSA-8943724;

name:
Target of rapamycin complex subunit LST8 (TORC subunit LST8) (G protein beta subunit-like) (Gable) (Protein GbetaL) (Mammalian lethal with SEC13 protein 8) (mLST8)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; TORC1 complex [GO:0031931]; TORC2 complex [GO:0031932]; protein serine/threonine kinase activator activity [GO:0043539]; activation of protein kinase B activity [GO:0032148]; cell cycle arrest [GO:0007050]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of TOR signaling [GO:0032008]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cellular response to heat [GO:1900034]; regulation of GTPase activity [GO:0043087]; regulation of macroautophagy [GO:0016241]; TOR signaling [GO:0031929]; TORC1 signaling [GO:0038202]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BVC4-1; Sequence=Displayed; Name=2; IsoId=Q9BVC4-3; Sequence=VSP_032665; Name=3; IsoId=Q9BVC4-4; Sequence=VSP_032666, VSP_032667, VSP_032668; Name=4; IsoId=Q9BVC4-5; Sequence=VSP_047368; 


uniprotID: Q6P1Q0
geneSymbol: LETMD1
length: 360
go: ENSG00000050426;
snps: rs12379
name:
LETM1 domain-containing protein 1 (Cervical cancer 1 proto-oncogene protein p40) (Cervical cancer proto-oncogene 2 protein) (HCCR-1) (HCRR-2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; ribosome binding [GO:0043022]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=HCCR-1; IsoId=Q6P1Q0-1; Sequence=Displayed; Name=2; Synonyms=HCRR-2; IsoId=Q6P1Q0-2; Sequence=VSP_029275; Name=3; IsoId=Q6P1Q0-3; Sequence=VSP_029276, VSP_029279; Name=4; IsoId=Q6P1Q0-4; Sequence=VSP_029274; Name=5; IsoId=Q6P1Q0-5; Sequence=VSP_029273; Name=6; IsoId=Q6P1Q0-6; Sequence=VSP_029277, VSP_029278; Name=7; IsoId=Q6P1Q0-7; Sequence=VSP_045299; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:17943721, ECO:0000269|PubMed:18045496}; Single-pass membrane protein {ECO:0000269|PubMed:17943721, ECO:0000269|PubMed:18045496}.


uniprotID: Q86V48
geneSymbol: LUZP1
name: Leucine zipper protein 1
length: 1076
go: ENSG00000169641;
snps: rs12091554 rs477830 rs3765407 rs35917050 rs10799790 rs12066671
location: SUBCELLULAR LOCATION: Nucleus. Note=Also detected in soma and dendrites of neurons. {ECO:0000250}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; artery development [GO:0060840]; neural fold bending [GO:0021503]; ventricular septum development [GO:0003281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86V48-1; Sequence=Displayed; Name=2; IsoId=Q86V48-2; Sequence=VSP_018351, VSP_018353; Note=No experimental confirmation available.; Name=3; IsoId=Q86V48-3; Sequence=VSP_018352, VSP_018353; Note=No experimental confirmation available.; 


uniprotID: P01703
geneSymbol: IGLV1-40
name: Immunoglobulin lambda variable 1-40 (Ig lambda chain V-I region NEWM)
length: 118
go: ENSG00000211653;
sequence:
MAWSPLLLTLLAHCTGSWAQSVLTQPPSVSGAPGQRVTISCTGSSSNIGAGYDVHWYQQLPGTAPKLLIYGNSNRPSGVPDRFSGSKSGTSASLAITGLQAEDEADYYCQSYDSSLSG


uniprotID: P01717
geneSymbol: IGLV3-25
name: Immunoglobulin lambda variable 3-25 (Ig lambda chain V-IV region Hil)
length: 112
go: ENSG00000211659;
sequence:
MAWIPLLLPLLTLCTGSEASYELTQPPSVSVSPGQTARITCSGDALPKQYAYWYQQKPGQAPVLVIYKDSERPSGIPERFSGSSSGTTVTLTISGVQAEDEADYYCQSADSS

opentargets:
blood microparticle [GO:0072562]; 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: A0A075B6J1
geneSymbol: IGLV5-37
name: Immunoglobulin lambda variable 5-37
length: 123
sequence:
MAWTPLLLLLLSHCTGSLSQPVLTQPPSSSASPGESARLTCTLPSDINVGSYNIYWYQQKPGSPPRYLLYYYSDSDKGQGSGVPSRFSGSKDASANTGILLISGLQSEDEADYYCMIWPSNAS


uniprotID: A0A0G2JS06
geneSymbol: IGLV5-39
name: Immunoglobulin lambda variable 5-39
length: 123
sequence:
MAWTPLLLLLLSHCTGSLSQPVLTQPTSLSASPGASARFTCTLRSGINVGTYRIYWYQQKPGSLPRYLLRYKSDSDKQQGSGVPSRFSGSKDASTNAGLLLISGLQSEDEADYYCAIWYSSTS


uniprotID: A0A087WSX0
geneSymbol: IGLV5-45
name: Immunoglobulin lambda variable 5-45
length: 123
go: ENSG00000211650;
sequence:
MAWTPLLLLFLSHCTGSLSQAVLTQPSSLSASPGASASLTCTLCSGINVGTYRIYWYQQKPGSPPQYLLRYKSDSDKQQGSGVPSRFSGSKDASANAGILLISGLQSEDEADYYCMIWHSSAS


uniprotID: P01721
geneSymbol: IGLV6-57
pdb: 1CD0;1PEW;2CD0;5IR3;
length: 117
go: ENSG00000211640;
name:
Immunoglobulin lambda variable 6-57 (Ig lambda chain V-VI region AR) (Ig lambda chain V-VI region EB4) (Ig lambda chain V-VI region NIG-48) (Ig lambda chain V-VI region SUT) (Ig lambda chain V-VI region WLT)

sequence:
MAWAPLLLTLLAHCTGSWANFMLTQPHSVSESPGKTVTISCTGSSGSIASNYVQWYQQRPGSAPTTVIYEDNQRPSGVPDRFSGSIDSSSNSASLTISGLKTEDEADYYCQSYDSSN


uniprotID: P04211
geneSymbol: IGLV7-43
name: Immunoglobulin lambda variable 7-43 (Ig lambda chain V region 4A)
length: 117
go: ENSG00000211652;
drug: DB08295;DB08273;
sequence:
MAWTPLFLFLLTCCPGSNSQTVVTQEPSLTVSPGGTVTLTCASSTGAVTSGYYPNWFQQKPGQAPRALIYSTSNKHSWTPARFSGSLLGGKAALTLSGVQPEDEAEYYCLLYYGGAQ


uniprotID: A0A075B6J9
geneSymbol: IGLV2-18
name: Immunoglobulin lambda variable 2-18
length: 118
go: ENSG00000211664;
sequence:
MAWALLLLTLLTQGTGSWAQSALTQPPSVSGSPGQSVTISCTGTSSDVGSYNRVSWYQQPPGTAPKLMIYEVSNRPSGVPDRFSGSKSGNTASLTISGLQAEDEADYYCSLYTSSSTF


uniprotID: Q5SQ64
geneSymbol: LY6G6F
reactome: R-HSA-114608;
name: Lymphocyte antigen 6 complex locus protein G6f
length: 297
go: ENSG00000204424;ENSG00000250641;
snps: rs17200983 rs805295 rs9267547 rs2242653
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; platelet degranulation [GO:0002576]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SQ64-1; Sequence=Displayed; Name=2; IsoId=Q5SQ64-2; Sequence=VSP_055597; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12852788}; Single-pass type I membrane protein {ECO:0000269|PubMed:12852788}.


uniprotID: A0A075B6I4
geneSymbol: IGLV10-54
name: Immunoglobulin lambda variable 10-54
length: 117
go: ENSG00000211642;
sequence:
MPWALLLLTLLTHSAVSVVQAGLTQPPSVSKGLRQTATLTCTGNSNIVGNQGAAWLQQHQGHPPKLLSYRNNNRPSGISERFSASRSGNTASLTITGLQPEDEADYYCSALDSSLSA


uniprotID: P14151
geneSymbol: SELL
reactome: R-HSA-198933;R-HSA-202733;R-HSA-6798695;
pdb: 1KJB;2LGF;3CFW;5VC1;
length: 372
go: ENSG00000188404;
snps: rs1131498 rs2229568 rs2229569 rs4987382
name:
L-selectin (CD62 antigen-like family member L) (Leukocyte adhesion molecule 1) (LAM-1) (Leukocyte surface antigen Leu-8) (Leukocyte-endothelial cell adhesion molecule 1) (LECAM1) (Lymph node homing receptor) (TQ1) (gp90-MEL) (CD antigen CD62L)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; cell adhesion molecule binding [GO:0050839]; glycosphingolipid binding [GO:0043208]; heparin binding [GO:0008201]; oligosaccharide binding [GO:0070492]; protease binding [GO:0002020]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; leukocyte migration [GO:0050900]; leukocyte tethering or rolling [GO:0050901]; neutrophil degranulation [GO:0043312]; regulation of immune response [GO:0050776]; response to ATP [GO:0033198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Comment=The start of isoform 1 corresponds to the N-terminus of mammalian orthologs. The start codon for isoform 2 is in the same exon and reading frame as that for isoform 1, suggesting alternative initiation. {ECO:0000305}; Name=1; IsoId=P14151-1; Sequence=Displayed; Name=2; IsoId=P14151-2; Sequence=VSP_042650; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:2509939, ECO:0000269|PubMed:2663882, ECO:0000269|PubMed:28011641}; Single-pass type I membrane protein {ECO:0000305|PubMed:2663882}.


uniprotID: O95711
geneSymbol: LY86
reactome: R-HSA-166016;
pdb: 3B2D;
name: Lymphocyte antigen 86 (Ly-86) (Protein MD-1)
length: 162
go: ENSG00000112799;
snps: rs5743649 rs5743651 rs1802323
sequence:
MKGFTATLFLWTLIFPSCSGGGGGKAWPTHVVCSDSGLEVLYQSCDPLQDFGFSVEKCSKQLKSNINIRFGIILREDIKELFLDLALMSQGSSVLNFSYPICEAALPKFSFCGRRKGEQIYYAGPVNNPEFTIPQGEYQVLLELYTEKRSTVACANATIMCS

opentargets:
extracellular space [GO:0005615]; plasma membrane [GO:0005886]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; humoral immune response [GO:0006959]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; positive regulation of lipopolysaccharide-mediated signaling pathway [GO:0031666]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space. Note=Associated with CD180 at the cell surface.


uniprotID: P16109
geneSymbol: SELP
reactome: R-HSA-114608;R-HSA-202733;
pdb: 1FSB;1G1Q;1G1R;1G1S;1HES;1KJD;
length: 830
drug: DB06779;DB01109;DB03721;DB08813;
name:
P-selectin (CD62 antigen-like family member P) (Granule membrane protein 140) (GMP-140) (Leukocyte-endothelial cell adhesion molecule 3) (LECAM3) (Platelet activation dependent granule-external membrane protein) (PADGEM) (CD antigen CD62P)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; platelet dense granule membrane [GO:0031088]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; fucose binding [GO:0042806]; glycosphingolipid binding [GO:0043208]; heparin binding [GO:0008201]; lipopolysaccharide binding [GO:0001530]; oligosaccharide binding [GO:0070492]; sialic acid binding [GO:0033691]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cell adhesion [GO:0007155]; defense response to Gram-negative bacterium [GO:0050829]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; inflammatory response [GO:0006954]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; leukocyte tethering or rolling [GO:0050901]; platelet degranulation [GO:0002576]; positive regulation of leukocyte migration [GO:0002687]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of platelet activation [GO:0010572]; regulation of integrin activation [GO:0033623]; response to lipopolysaccharide [GO:0032496]

snps:
rs3917718 rs6125 rs3917869 rs3917724 rs6124 rs6131 rs6134 rs3917742 rs6130 rs3917769 rs6127 rs2228672 rs3917812 rs6133 rs3917814 rs3917815 rs6136 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28011641}; Single-pass type I membrane protein {ECO:0000305|PubMed:28011641}.


uniprotID: Q9NX58
geneSymbol: LYAR
name: Cell growth-regulating nucleolar protein
length: 379
snps: rs2272739 rs7376390
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; photoreceptor outer segment [GO:0001750]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; erythrocyte development [GO:0048821]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of phagocytosis [GO:0050766]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25092918}. Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:24495227}. Cytoplasm {ECO:0000269|PubMed:24990247}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:Q08288}. Note=Component of pre-ribosomal particles, including pre-40S, pre-60S and pre-90S (PubMed:24495227). Associated with cytoplasmic ribosomes, but not polysomes, as a component of the 60S subunit (PubMed:24990247). In the retina, predominantly expressed in photoreceptor outer segments (By similarity). In the nucleolus, colocalizes with nucleolin/NCL, therefore may reside in the dense fibrillar component (DFC) (By similarity). {ECO:0000250|UniProtKB:Q08288, ECO:0000269|PubMed:24495227, ECO:0000269|PubMed:24990247}.


uniprotID: Q8N1E2
geneSymbol: LYG1
name: Lysozyme g-like protein 1 (EC 3.2.1.-)
length: 194
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MSALWLLLGLLALMDLSESSNWGCYGNIQSLDTPGASCGIGRRHGLNYCGVRASERLAEIDMPYLLKYQPMMQTIGQKYCMDPAVIAGVLSRKSPGDKILVNMGDRTSMVQDPGSQAPTSWISESQVSQTTEVLTTRIKEIQRRFPTWTPDQYLRGGLCAYSGGAGYVRSSQDLSCDFCNDVLARAKYLKRHGF

opentargets:
extracellular region [GO:0005576]; lysozyme activity [GO:0003796]; cell wall macromolecule catabolic process [GO:0016998]; peptidoglycan catabolic process [GO:0009253]


uniprotID: P07948
geneSymbol: LYN
pdb: 1W1F;1WA7;3A4O;5XY1;
length: 512
go: ENSG00000254087;
drug: DB06616;DB09079;DB08901;
reactome:
R-HSA-114604;R-HSA-1433557;R-HSA-1433559;R-HSA-202733;R-HSA-2029481;R-HSA-210990;R-HSA-2454202;R-HSA-2682334;R-HSA-2730905;R-HSA-2871796;R-HSA-2871809;R-HSA-2871837;R-HSA-389356;R-HSA-389513;R-HSA-3928662;R-HSA-3928663;R-HSA-3928665;R-HSA-5621480;R-HSA-5621575;R-HSA-5690714;R-HSA-69231;R-HSA-75892;R-HSA-912631;R-HSA-982772;R-HSA-983695;

name:
Tyrosine-protein kinase Lyn (EC 2.7.10.2) (Lck/Yes-related novel protein tyrosine kinase) (V-yes-1 Yamaguchi sarcoma viral related oncogene homolog) (p53Lyn) (p56Lyn)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; integrin alpha2-beta1 complex [GO:0034666]; intracellular membrane-bounded organelle [GO:0043231]; mast cell granule [GO:0042629]; membrane raft [GO:0045121]; mitochondrial crista [GO:0030061]; mitochondrial intermembrane space [GO:0005758]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic specialization, intracellular component [GO:0099091]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; ephrin receptor binding [GO:0046875]; gamma-tubulin binding [GO:0043015]; glycosphingolipid binding [GO:0043208]; integrin binding [GO:0005178]; ion channel binding [GO:0044325]; kinase activity [GO:0016301]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphoprotein binding [GO:0051219]; phosphorylation-dependent protein binding [GO:0140031]; platelet-derived growth factor receptor binding [GO:0005161]; protein tyrosine kinase activity [GO:0004713]; SH3 domain binding [GO:0017124]; signaling receptor binding [GO:0005102]; ubiquitin protein ligase binding [GO:0031625]; adaptive immune response [GO:0002250]; B cell homeostasis [GO:0001782]; B cell receptor signaling pathway [GO:0050853]; blood coagulation [GO:0007596]; cell differentiation [GO:0030154]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to extracellular stimulus [GO:0031668]; cellular response to heat [GO:0034605]; cellular response to retinoic acid [GO:0071300]; cytokine secretion [GO:0050663]; dendritic cell differentiation [GO:0097028]; ephrin receptor signaling pathway [GO:0048013]; erythrocyte differentiation [GO:0030218]; Fc receptor mediated inhibitory signaling pathway [GO:0002774]; Fc receptor mediated stimulatory signaling pathway [GO:0002431]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; histamine secretion by mast cell [GO:0002553]; immune response-regulating cell surface receptor signaling pathway [GO:0002768]; innate immune response [GO:0045087]; JAK-STAT cascade involved in growth hormone signaling pathway [GO:0060397]; leukocyte migration [GO:0050900]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of cell proliferation [GO:0008285]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of immune response [GO:0050777]; negative regulation of intracellular signal transduction [GO:1902532]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of mast cell proliferation [GO:0070667]; negative regulation of myeloid leukocyte differentiation [GO:0002762]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of toll-like receptor 2 signaling pathway [GO:0034136]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]; neuron projection development [GO:0031175]; oligodendrocyte development [GO:0014003]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; platelet activation [GO:0030168]; platelet degranulation [GO:0002576]; positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process [GO:1902961]; positive regulation of B cell receptor signaling pathway [GO:0050861]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular component movement [GO:0051272]; positive regulation of dendritic cell apoptotic process [GO:2000670]; positive regulation of Fc receptor mediated stimulatory signaling pathway [GO:0060369]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of mast cell proliferation [GO:0070668]; positive regulation of neuron projection development [GO:0010976]; positive regulation of oligodendrocyte progenitor proliferation [GO:0070447]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of stress-activated protein kinase signaling cascade [GO:0070304]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of B cell apoptotic process [GO:0002902]; regulation of B cell receptor signaling pathway [GO:0050855]; regulation of cell adhesion mediated by integrin [GO:0033628]; regulation of cytokine production [GO:0001817]; regulation of cytokine secretion [GO:0050707]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of erythrocyte differentiation [GO:0045646]; regulation of inflammatory response [GO:0050727]; regulation of mast cell activation [GO:0033003]; regulation of mast cell degranulation [GO:0043304]; regulation of monocyte chemotaxis [GO:0090025]; regulation of platelet aggregation [GO:0090330]; regulation of protein phosphorylation [GO:0001932]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; response to amino acid [GO:0043200]; response to axon injury [GO:0048678]; response to carbohydrate [GO:0009743]; response to drug [GO:0042493]; response to hormone [GO:0009725]; response to insulin [GO:0032868]; response to organic cyclic compound [GO:0014070]; response to sterol depletion [GO:0006991]; response to toxic substance [GO:0009636]; signal transduction [GO:0007165]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell costimulation [GO:0031295]; tolerance induction to self antigen [GO:0002513]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=LYN A, p56lyn; IsoId=P07948-1; Sequence=Displayed; Name=2; Synonyms=LYN B, p53lyn; IsoId=P07948-2; Sequence=VSP_005002; 

location:
SUBCELLULAR LOCATION: Cell membrane. Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Accumulates in the nucleus by inhibition of CRM1-mediated nuclear export. Nuclear accumulation is increased by inhibition of its kinase activity. The trafficking from the Golgi apparatus to the plasma membrane occurs in a kinase domain-dependent but kinase activity independent manner and is mediated by exocytic vesicular transport. Detected on plasma membrane lipid rafts.


uniprotID: O75608
geneSymbol: LYPLA1
reactome: R-HSA-203615;
pdb: 1FJ2;5SYM;
length: 230
go: ENSG00000120992;
snps: rs11549448
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Acyl-protein thioesterase 1 (APT-1) (hAPT1) (EC 3.1.2.-) (Lysophospholipase 1) (Lysophospholipase I) (LPL-I) (LysoPLA I)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; carboxylic ester hydrolase activity [GO:0052689]; lipase activity [GO:0016298]; lysophospholipase activity [GO:0004622]; palmitoyl-(protein) hydrolase activity [GO:0008474]; fatty acid metabolic process [GO:0006631]; negative regulation of Golgi to plasma membrane protein transport [GO:0042997]; protein depalmitoylation [GO:0002084]; regulation of nitric-oxide synthase activity [GO:0050999]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75608-1; Sequence=Displayed; Name=2; IsoId=O75608-2; Sequence=VSP_009196; Note=No experimental confirmation available.; 


uniprotID: O95372
geneSymbol: LYPLA2
reactome: R-HSA-373760;
pdb: 5SYN;
name: Acyl-protein thioesterase 2 (APT-2) (EC 3.1.2.-) (Lysophospholipase II) (LPL-II) (LysoPLA II)
length: 231
go: ENSG00000011009;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi stack [GO:0005795]; cadherin binding [GO:0045296]; carboxylic ester hydrolase activity [GO:0052689]; palmitoyl-(protein) hydrolase activity [GO:0008474]; axon guidance [GO:0007411]; fatty acid metabolic process [GO:0006631]; protein depalmitoylation [GO:0002084]


uniprotID: Q92615
geneSymbol: LARP4B
pdb: 3PTH;
length: 738
go: ENSG00000107929;
name:
La-related protein 4B (La ribonucleoprotein domain family member 4B) (La ribonucleoprotein domain family member 5) (La-related protein 5)

sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleolus [GO:0005730]; polysomal ribosome [GO:0042788]; RNA binding [GO:0003723]; positive regulation of translation [GO:0045727]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20573744}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs in response to arsenite treatment. {ECO:0000269|PubMed:20573744}.


uniprotID: Q5T752
geneSymbol: LCE1D
reactome: R-HSA-6809371;
name: Late cornified envelope protein 1D (Late envelope protein 4)
length: 114
go: ENSG00000172155;
snps: rs7527180 rs41268490
sequence:
MSCQQSQQQCQPPPKCTPKCTPKCPAPKCPPKCPPVSSCCSVSSGGCCGSSSGGGCGSNSGGCCSSGGGGCCLSHHRRHRSHRRRPQSSDCCSQPSGGSSCCGGGSSQHSGGCC

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; perinuclear region of cytoplasm [GO:0048471]; structural molecule activity [GO:0005198]; cellular response to calcium ion [GO:0071277]; cognition [GO:0050890]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: P60369
geneSymbol: KRTAP10-3
reactome: R-HSA-6805567;
length: 221
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs452472 rs233252
name:
Keratin-associated protein 10-3 (High sulfur keratin-associated protein 10.3) (Keratin-associated protein 10.3) (Keratin-associated protein 18-3) (Keratin-associated protein 18.3)

sequence:


uniprotID: P04180
geneSymbol: LCAT
reactome: R-HSA-8964058;
pdb: 4X96;4XWG;4XX1;5BV7;5TXF;
length: 440
go: ENSG00000213398;
name:
Phosphatidylcholine-sterol acyltransferase (EC 2.3.1.43) (Lecithin-cholesterol acyltransferase) (Phospholipid-cholesterol acyltransferase)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; apolipoprotein A-I binding [GO:0034186]; phosphatidylcholine-sterol O-acyltransferase activity [GO:0004607]; cholesterol esterification [GO:0034435]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; high-density lipoprotein particle remodeling [GO:0034375]; lipoprotein biosynthetic process [GO:0042158]; phosphatidylcholine biosynthetic process [GO:0006656]; phosphatidylcholine metabolic process [GO:0046470]; phospholipid metabolic process [GO:0006644]; regulation of high-density lipoprotein particle assembly [GO:0090107]; reverse cholesterol transport [GO:0043691]; very-low-density lipoprotein particle remodeling [GO:0034372]

snps:
rs121908051 rs971887742 rs748427834 rs1412883954 rs28940886 rs140068549 rs121908050 rs768017317 rs28940887 rs769485083 rs1369994093 rs749740660 rs387906300 rs4986970 rs28942087 rs121908049 rs745320775 rs780824776 rs121908054 rs121908048 rs776035233 rs28940888 rs202017590 rs121908053 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10222237, ECO:0000269|PubMed:19065001, ECO:0000269|PubMed:3458198, ECO:0000269|PubMed:8820107}. Note=Secreted into blood plasma (PubMed:3458198, PubMed:8820107, PubMed:10222237). Produced in astrocytes and secreted into cerebral spinal fluid (CSF). {ECO:0000269|PubMed:10222237, ECO:0000269|PubMed:3458198, ECO:0000269|PubMed:8820107}.


uniprotID: Q96PV6
geneSymbol: LENG8
name: Leukocyte receptor cluster member 8
length: 800
go: ENSG00000167615;
snps: rs35061854 rs35336528
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96PV6-2; Sequence=Displayed; Name=2; IsoId=Q96PV6-1; Sequence=VSP_059456, VSP_059457; Name=3; IsoId=Q96PV6-3; Sequence=VSP_059455; 


uniprotID: O00370
pdb: 1VYB;2V0R;2V0S;
length: 1275
name:
LINE-1 retrotransposable element ORF2 protein (ORF2p) [Includes: Reverse transcriptase (EC 2.7.7.49); Endonuclease (EC 3.1.21.-)]

sequence:

opentargets:
metal ion binding [GO:0046872]; RNA-directed DNA polymerase activity [GO:0003964]; type II site-specific deoxyribonuclease activity [GO:0009036]; DNA recombination [GO:0006310]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; reverse transcription involved in RNA-mediated transposition [GO:0032199]; transposition, RNA-mediated [GO:0032197]


uniprotID: Q9HBW0
geneSymbol: LPAR2
reactome: R-HSA-416476;R-HSA-418594;R-HSA-419408;
pdb: 4P0C;
name: Lysophosphatidic acid receptor 2 (LPA receptor 2) (LPA-2) (Lysophosphatidic acid receptor Edg-4)
length: 351
go: ENSG00000064547;
sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; lipid binding [GO:0008289]; lysophosphatidic acid receptor activity [GO:0070915]; activation of phospholipase C activity [GO:0007202]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

location:
SUBCELLULAR LOCATION: Cell surface {ECO:0000269|PubMed:19306925}. Cell membrane {ECO:0000269|PubMed:19306925}; Multi-pass membrane protein {ECO:0000269|PubMed:19306925}. Note=Prior to LPA treatment found predominantly at the cell surface but in the presence of LPA colocalizes with RALA in the endocytic vesicles.


uniprotID: P16050
geneSymbol: ALOX15
pdb: 2ABT;
length: 662
go: ENSG00000161905;
drug: DB08492;
snps: rs11568142 rs41439950 rs11568099 rs11568101 rs3892408 rs17852628 rs34210653
reactome:
R-HSA-2142691;R-HSA-2142712;R-HSA-2142770;R-HSA-6785807;R-HSA-9018677;R-HSA-9018681;R-HSA-9018896;R-HSA-9023661;R-HSA-9025106;R-HSA-9026286;

name:
Arachidonate 15-lipoxygenase (15-LOX) (15-LOX-1) (EC 1.13.11.33) (12/15-lipoxygenase) (Arachidonate 12-lipoxygenase, leukocyte-type) (12-LOX) (EC 1.13.11.31) (Arachidonate omega-6 lipoxygenase)

sequence:

opentargets:
cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; lipid droplet [GO:0005811]; membrane [GO:0016020]; plasma membrane [GO:0005886]; arachidonate 12-lipoxygenase activity [GO:0004052]; arachidonate 15-lipoxygenase activity [GO:0050473]; eoxin A4 synthase activity [GO:0097260]; hepoxilin A3 synthase activity [GO:0051120]; hepoxilin-epoxide hydrolase activity [GO:0047977]; iron ion binding [GO:0005506]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; apoptotic cell clearance [GO:0043277]; arachidonic acid metabolic process [GO:0019369]; bone mineralization [GO:0030282]; cellular response to calcium ion [GO:0071277]; cellular response to interleukin-13 [GO:0035963]; cytokine-mediated signaling pathway [GO:0019221]; hepoxilin biosynthetic process [GO:0051122]; inflammatory response [GO:0006954]; leukotriene metabolic process [GO:0006691]; lipoxin A4 biosynthetic process [GO:2001303]; lipoxygenase pathway [GO:0019372]; long-chain fatty acid biosynthetic process [GO:0042759]; negative regulation of adaptive immune response [GO:0002820]; ossification [GO:0001503]; phosphatidylethanolamine biosynthetic process [GO:0006646]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; regulation of engulfment of apoptotic cell [GO:1901074]; regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035358]; response to endoplasmic reticulum stress [GO:0034976]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P16050-1; Sequence=Displayed; Name=2; IsoId=P16050-2; Sequence=VSP_056681; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Lipid droplet. Note=Predominantly cytosolic; becomes enriched at membranes upon calcium binding. Translocates from the cytosol to the plasma membrane when stimulated by IL13/interleukin-13 and in macrophages binding apoptotic cells.


uniprotID: Q9H1C0
geneSymbol: LPAR5
reactome: R-HSA-416476;R-HSA-418594;R-HSA-419408;
length: 372
go: ENSG00000184574;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Lysophosphatidic acid receptor 5 (LPA receptor 5) (LPA-5) (G-protein coupled receptor 92) (G-protein coupled receptor 93)

sequence:


uniprotID: Q92633
geneSymbol: LPAR1
reactome: R-HSA-416476;R-HSA-418594;R-HSA-419408;
pdb: 4Z34;4Z35;4Z36;
name: Lysophosphatidic acid receptor 1 (LPA receptor 1) (LPA-1) (Lysophosphatidic acid receptor Edg-2)
length: 364
go: ENSG00000198121;
snps: rs11542862
sequence:

opentargets:
cell surface [GO:0009986]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G-protein alpha-subunit binding [GO:0001965]; lysophosphatidic acid binding [GO:0035727]; lysophosphatidic acid receptor activity [GO:0070915]; PDZ domain binding [GO:0030165]; activation of MAPK activity [GO:0000187]; activation of phospholipase C activity [GO:0007202]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; bleb assembly [GO:0032060]; cell chemotaxis [GO:0060326]; cellular response to 1-oleoyl-sn-glycerol 3-phosphate [GO:1904566]; cellular response to oxygen levels [GO:0071453]; cerebellum development [GO:0021549]; corpus callosum development [GO:0022038]; G protein-coupled receptor signaling pathway [GO:0007186]; myelination [GO:0042552]; negative regulation of cAMP-mediated signaling [GO:0043951]; negative regulation of neuron projection development [GO:0010977]; oligodendrocyte development [GO:0014003]; optic nerve development [GO:0021554]; positive regulation of apoptotic process [GO:0043065]; 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]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of Rho protein signal transduction [GO:0035025]; positive regulation of smooth muscle cell chemotaxis [GO:0071673]; positive regulation of stress fiber assembly [GO:0051496]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92633-1; Sequence=Displayed; Name=2; IsoId=Q92633-2; Sequence=VSP_057046; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell surface {ECO:0000269|PubMed:19306925, ECO:0000269|PubMed:25025571}. Cell membrane {ECO:0000269|PubMed:19306925, ECO:0000269|PubMed:25025571, ECO:0000269|PubMed:26091040, ECO:0000269|PubMed:9070858}; Multi-pass membrane protein {ECO:0000269|PubMed:19306925, ECO:0000269|PubMed:26091040}. Endosome {ECO:0000269|PubMed:19306925}. Note=Prior to LPA treatment found predominantly at the cell surface. Internalized after LPA treatment. Colocalizes with RALA in endocytic vesicles after LPA treatment. {ECO:0000269|PubMed:19306925}.


uniprotID: P42345
geneSymbol: MTOR
length: 2549
go: ENSG00000198793;
drug: DB04974;DB01590;DB00337;DB05210;DB00877;DB06287;DB05241;
reactome:
R-HSA-1257604;R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-3371571;R-HSA-380972;R-HSA-389357;R-HSA-5218920;R-HSA-5628897;R-HSA-5674400;R-HSA-6804757;R-HSA-8943724;

pdb:
1AUE;1FAP;1NSG;2FAP;2GAQ;2NPU;2RSE;3FAP;3JBZ;4DRH;4DRI;4DRJ;4FAP;4JSN;4JSP;4JSV;4JSX;4JT5;4JT6;5FLC;5GPG;5H64;5WBH;5WBU;5WBY;5ZCS;6BCU;6BCX;

name:
Serine/threonine-protein kinase mTOR (EC 2.7.11.1) (FK506-binding protein 12-rapamycin complex-associated protein 1) (FKBP12-rapamycin complex-associated protein) (Mammalian target of rapamycin) (mTOR) (Mechanistic target of rapamycin) (Rapamycin and FKBP12 target 1) (Rapamycin target protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; endomembrane system [GO:0012505]; endoplasmic reticulum membrane [GO:0005789]; glutamatergic synapse [GO:0098978]; Golgi membrane [GO:0000139]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; postsynaptic cytosol [GO:0099524]; TORC1 complex [GO:0031931]; TORC2 complex [GO:0031932]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; phosphoprotein binding [GO:0051219]; protein domain specific binding [GO:0019904]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; ribosome binding [GO:0043022]; RNA polymerase III type 1 promoter DNA binding [GO:0001030]; RNA polymerase III type 2 promoter DNA binding [GO:0001031]; RNA polymerase III type 3 promoter DNA binding [GO:0001032]; TFIIIC-class transcription factor complex binding [GO:0001156]; translation regulator activity [GO:0045182]; 'de novo' pyrimidine nucleobase biosynthetic process [GO:0006207]; activation of protein kinase B activity [GO:0032148]; anoikis [GO:0043276]; brain development [GO:0007420]; cardiac muscle cell development [GO:0055013]; cardiac muscle contraction [GO:0060048]; cell aging [GO:0007569]; cell cycle arrest [GO:0007050]; cellular response to amino acid starvation [GO:0034198]; cellular response to amino acid stimulus [GO:0071230]; cellular response to hypoxia [GO:0071456]; cellular response to leucine [GO:0071233]; cellular response to leucine starvation [GO:1990253]; cellular response to nutrient levels [GO:0031669]; cellular response to starvation [GO:0009267]; energy reserve metabolic process [GO:0006112]; germ cell development [GO:0007281]; heart morphogenesis [GO:0003007]; heart valve morphogenesis [GO:0003179]; long-term memory [GO:0007616]; maternal process involved in female pregnancy [GO:0060135]; mRNA stabilization [GO:0048255]; multicellular organism growth [GO:0035264]; negative regulation of autophagy [GO:0010507]; negative regulation of calcineurin-NFAT signaling cascade [GO:0070885]; negative regulation of cell size [GO:0045792]; negative regulation of cholangiocyte apoptotic process [GO:1904193]; negative regulation of iodide transmembrane transport [GO:1904213]; negative regulation of macroautophagy [GO:0016242]; negative regulation of muscle atrophy [GO:0014736]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein ubiquitination [GO:0031397]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; phosphorylation [GO:0016310]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell growth involved in cardiac muscle cell development [GO:0061051]; positive regulation of cholangiocyte proliferation [GO:1904056]; positive regulation of cytoplasmic translational initiation [GO:1904690]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of eating behavior [GO:1904000]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of gene expression [GO:0010628]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of granulosa cell proliferation [GO:1904197]; positive regulation of keratinocyte migration [GO:0051549]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of myotube differentiation [GO:0010831]; positive regulation of neuron death [GO:1901216]; positive regulation of neuron maturation [GO:0014042]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of sensory perception of pain [GO:1904058]; positive regulation of skeletal muscle hypertrophy [GO:1904206]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of transcription by RNA polymerase III [GO:0045945]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]; positive regulation of translation [GO:0045727]; positive regulation of wound healing, spreading of epidermal cells [GO:1903691]; post-embryonic development [GO:0009791]; protein autophosphorylation [GO:0046777]; protein catabolic process [GO:0030163]; protein phosphorylation [GO:0006468]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of brown fat cell differentiation [GO:0090335]; regulation of carbohydrate utilization [GO:0043610]; regulation of cell growth [GO:0001558]; regulation of cell size [GO:0008361]; regulation of cellular response to heat [GO:1900034]; regulation of fatty acid beta-oxidation [GO:0031998]; regulation of glycogen biosynthetic process [GO:0005979]; regulation of GTPase activity [GO:0043087]; regulation of macroautophagy [GO:0016241]; regulation of membrane permeability [GO:0090559]; regulation of myelination [GO:0031641]; regulation of osteoclast differentiation [GO:0045670]; regulation of response to food [GO:0032095]; regulation of translation at synapse, modulating synaptic transmission [GO:0099547]; response to activity [GO:0014823]; response to amino acid [GO:0043200]; response to cocaine [GO:0042220]; response to insulin [GO:0032868]; response to morphine [GO:0043278]; response to nutrient [GO:0007584]; ruffle organization [GO:0031529]; social behavior [GO:0035176]; spinal cord development [GO:0021510]; T-helper 1 cell lineage commitment [GO:0002296]; TOR signaling [GO:0031929]; TORC1 signaling [GO:0038202]; visual learning [GO:0008542]; voluntary musculoskeletal movement [GO:0050882]; wound healing [GO:0042060]

snps:
rs913197212 rs56164650 rs28730685 rs55975118 rs975577894 rs1085307114 rs1057519779 rs1057519914 rs869312671 rs587777895 rs863225264 rs369088781 rs869312666 rs587777893 rs587777894 rs878855328 rs1085307113 rs968817513 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14578359}; Peripheral membrane protein {ECO:0000269|PubMed:14578359}; Cytoplasmic side {ECO:0000269|PubMed:14578359}. Golgi apparatus membrane {ECO:0000269|PubMed:14578359}; Peripheral membrane protein {ECO:0000269|PubMed:14578359}; Cytoplasmic side {ECO:0000269|PubMed:14578359}. Mitochondrion outer membrane {ECO:0000269|PubMed:11930000, ECO:0000269|PubMed:14578359}; Peripheral membrane protein {ECO:0000269|PubMed:11930000, ECO:0000269|PubMed:14578359}; Cytoplasmic side {ECO:0000269|PubMed:11930000, ECO:0000269|PubMed:14578359}. Lysosome {ECO:0000269|PubMed:18497260, ECO:0000269|PubMed:20381137}. Cytoplasm {ECO:0000269|PubMed:11930000, ECO:0000269|PubMed:18497260}. Nucleus, PML body {ECO:0000250|UniProtKB:Q9JLN9}. Microsome membrane {ECO:0000269|PubMed:9434772}. Note=Shuttles between cytoplasm and nucleus. Accumulates in the nucleus in response to hypoxia (By similarity). Targeting to lysosomes depends on amino acid availability and RRAGA and RRAGB (PubMed:18497260, PubMed:20381137). {ECO:0000250|UniProtKB:Q9JLN9, ECO:0000269|PubMed:18497260, ECO:0000269|PubMed:20381137}.


uniprotID: P58546
geneSymbol: MTPN
pdb: 3AAA;
name: Myotrophin (Protein V-1)
length: 118
go: ENSG00000105887;
sequence:
MCDKEFMWALKNGDLDEVKDYVAKGEDVNRTLEGGRKPLHYAADCGQLEILEFLLLKGADINAPDKHHITPLLSAVYEGHVSCVKLLLSKGADKTVKGPDGLTAFEATDNQAIKALLQ

opentargets:
axon [GO:0030424]; cytosol [GO:0005829]; F-actin capping protein complex [GO:0008290]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; sequence-specific DNA binding [GO:0043565]; catecholamine metabolic process [GO:0006584]; cellular response to mechanical stimulus [GO:0071260]; cerebellar granule cell differentiation [GO:0021707]; neuron differentiation [GO:0030182]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cell growth [GO:0030307]; positive regulation of macromolecule biosynthetic process [GO:0010557]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein metabolic process [GO:0051247]; regulation of barbed-end actin filament capping [GO:2000812]; regulation of cell size [GO:0008361]; regulation of striated muscle tissue development [GO:0016202]; regulation of translation [GO:0006417]; skeletal muscle tissue regeneration [GO:0043403]; striated muscle cell differentiation [GO:0051146]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}.


uniprotID: P48039
geneSymbol: MTNR1A
reactome: R-HSA-373076;R-HSA-418594;
name: Melatonin receptor type 1A (Mel-1A-R) (Mel1a receptor)
length: 350
go: ENSG00000168412;
drug: DB06594;DB01065;DB00980;DB09071;DB05359;
snps: rs1800885 rs1800884 rs7654853
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; hormone binding [GO:0042562]; melatonin receptor activity [GO:0008502]; organic cyclic compound binding [GO:0097159]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; circadian rhythm [GO:0007623]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; mating behavior [GO:0007617]


uniprotID: A6NJW4
geneSymbol: LRRC3C
name: Leucine-rich repeat-containing protein 3C
length: 275
go: ENSG00000204913;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

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


uniprotID: Q38SD2
geneSymbol: LRRK1
name: Leucine-rich repeat serine/threonine-protein kinase 1 (EC 2.7.11.1)
length: 2015
go: ENSG00000154237;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16243488}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; bone resorption [GO:0045453]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; osteoclast development [GO:0036035]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of intracellular signal transduction [GO:1902533]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q38SD2-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q38SD2-2; Sequence=VSP_040119, VSP_040120; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q07954
geneSymbol: LRP1
reactome: R-HSA-2168880;R-HSA-975634;
pdb: 1CR8;1D2L;1J8E;2FYJ;2FYL;2KNX;2KNY;
length: 4544
go: ENSG00000123384;
drug: DB00025;DB00100;DB00031;
snps: rs2306691 rs1800127 rs1207947902 rs483353013 rs2229278 rs34577247 rs7397167 rs569866427 rs17357542
name:
Prolow-density lipoprotein receptor-related protein 1 (LRP-1) (Alpha-2-macroglobulin receptor) (A2MR) (Apolipoprotein E receptor) (APOER) (CD antigen CD91) [Cleaved into: Low-density lipoprotein receptor-related protein 1 85 kDa subunit (LRP-85); Low-density lipoprotein receptor-related protein 1 515 kDa subunit (LRP-515); Low-density lipoprotein receptor-related protein 1 intracellular domain (LRPICD)]

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; dendrite [GO:0030425]; early endosome [GO:0005769]; endocytic vesicle membrane [GO:0030666]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; plasma membrane protein complex [GO:0098797]; receptor complex [GO:0043235]; alpha-2 macroglobulin receptor activity [GO:0016964]; apolipoprotein binding [GO:0034185]; apolipoprotein receptor activity [GO:0030226]; calcium ion binding [GO:0005509]; clathrin heavy chain binding [GO:0032050]; heparan sulfate proteoglycan binding [GO:0043395]; lipoprotein particle receptor binding [GO:0070325]; lipoprotein transporter activity [GO:0042954]; low-density lipoprotein particle receptor activity [GO:0005041]; protease binding [GO:0002020]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; scavenger receptor activity [GO:0005044]; signaling receptor activity [GO:0038023]; aging [GO:0007568]; amyloid-beta clearance [GO:0097242]; aorta morphogenesis [GO:0035909]; apoptotic cell clearance [GO:0043277]; astrocyte activation involved in immune response [GO:0002265]; cell proliferation [GO:0008283]; cellular response to amyloid-beta [GO:1904646]; cerebral cortex development [GO:0021987]; lipid metabolic process [GO:0006629]; lipoprotein metabolic process [GO:0042157]; lipoprotein transport [GO:0042953]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of neuron projection development [GO:0010977]; negative regulation of platelet-derived growth factor receptor-beta signaling pathway [GO:2000587]; negative regulation of smooth muscle cell migration [GO:0014912]; negative regulation of Wnt signaling pathway [GO:0030178]; phagocytosis [GO:0006909]; positive regulation of amyloid-beta clearance [GO:1900223]; positive regulation of cell death [GO:0010942]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of endocytosis [GO:0045807]; positive regulation of lipid transport [GO:0032370]; positive regulation of lysosomal protein catabolic process [GO:1905167]; positive regulation of protein binding [GO:0032092]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of protein transport [GO:0051222]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; receptor internalization [GO:0031623]; receptor-mediated endocytosis [GO:0006898]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cholesterol transport [GO:0032374]; regulation of extracellular matrix disassembly [GO:0010715]; regulation of phospholipase A2 activity [GO:0032429]; regulation of protein metabolic process [GO:0051246]; retinoid metabolic process [GO:0001523]; transcytosis [GO:0045056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07954-1; Sequence=Displayed; Name=2; IsoId=Q07954-2; Sequence=VSP_056919, VSP_056920; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Low-density lipoprotein receptor-related protein 1 85 kDa subunit: Cell membrane; Single-pass type I membrane protein. Membrane, coated pit.; SUBCELLULAR LOCATION: Low-density lipoprotein receptor-related protein 1 515 kDa subunit: Cell membrane; Peripheral membrane protein; Extracellular side. Membrane, coated pit.; SUBCELLULAR LOCATION: Low-density lipoprotein receptor-related protein 1 intracellular domain: Cytoplasm. Nucleus. Note=After cleavage, the intracellular domain (LRPICD) is detected both in the cytoplasm and in the nucleus.


uniprotID: Q96NW7
geneSymbol: LRRC7
reactome: R-HSA-6798695;
name: Leucine-rich repeat-containing protein 7 (Densin-180) (Densin) (Protein LAP1)
length: 1537
go: ENSG00000033122;
snps: rs12069888
sequence:

opentargets:
axon initial segment [GO:0043194]; basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; extracellular region [GO:0005576]; neuron projection [GO:0043005]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; specific granule lumen [GO:0035580]; synapse [GO:0045202]; ionotropic glutamate receptor binding [GO:0035255]; cell-cell adhesion [GO:0098609]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; neurotransmitter receptor transport postsynaptic membrane to endosome [GO:0098968]; neurotransmitter receptor transport, endosome to postsynaptic membrane [GO:0098887]; neutrophil degranulation [GO:0043312]; positive regulation of neuron projection development [GO:0010976]; receptor clustering [GO:0043113]; receptor localization to synapse [GO:0097120]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96NW7-1; Sequence=Displayed; Name=2; IsoId=Q96NW7-2; Sequence=VSP_010797; Name=3; Synonyms=LRRC7; IsoId=Q96NW7-3; Sequence=VSP_010795, VSP_010796; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11729199}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}.


uniprotID: A4D1F6
geneSymbol: LRRD1
name: Leucine-rich repeat and death domain-containing protein 1
length: 860
opentargets: cytoplasm [GO:0005737]; signal transduction [GO:0007165]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A4D1F6-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=A4D1F6-2; Sequence=VSP_032412, VSP_032413; Note=No experimental confirmation available.; 


uniprotID: O75074
geneSymbol: LRP3
length: 770
go: ENSG00000130881;
snps: rs3745978 rs3745974
name:
Low-density lipoprotein receptor-related protein 3 (LRP-3) (105 kDa low-density lipoprotein receptor-related protein) (hLRp105)

sequence:

opentargets:
clathrin-coated pit [GO:0005905]; integral component of membrane [GO:0016021]; receptor-mediated endocytosis [GO:0006898]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Membrane, coated pit {ECO:0000250}.


uniprotID: Q8WUT4
geneSymbol: LRRN4
name: Leucine-rich repeat neuronal protein 4 (Neuronal leucine-rich repeat protein 4) (NLRR-4)
length: 740
go: ENSG00000125872;
snps: rs6107751 rs1884643
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; long-term memory [GO:0007616]; visual learning [GO:0008542]


uniprotID: P01229
geneSymbol: LHB
reactome: R-HSA-193048;R-HSA-193993;R-HSA-209822;R-HSA-375281;R-HSA-418555;R-HSA-975578;
pdb: 1M92;
length: 141
go: ENSG00000104826;
snps: rs34247911 rs5030775 rs1800447 rs34349826 rs5030773 rs5030774
location: SUBCELLULAR LOCATION: Secreted.
name:
Lutropin subunit beta (Lutropin beta chain) (Luteinizing hormone subunit beta) (LH-B) (LSH-B) (LSH-beta)

sequence:
MEMLQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPVCITVNTTICAGYCPTMMRVLQAVLPPLPQVVCTYRDVRFESIRLPGCPRGVDPVVSFPVALSCRCGPCRRSTSDCGGPKDHPLTCDHPQLSGLLFL

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; hormone activity [GO:0005179]; signaling receptor binding [GO:0005102]; cell-cell signaling [GO:0007267]; G protein-coupled receptor signaling pathway [GO:0007186]; hormone-mediated signaling pathway [GO:0009755]; male gonad development [GO:0008584]; peptide hormone processing [GO:0016486]; progesterone biosynthetic process [GO:0006701]; signal transduction [GO:0007165]


uniprotID: Q86UE6
geneSymbol: LRRTM1
reactome: R-HSA-6794361;
name: Leucine-rich repeat transmembrane neuronal protein 1
length: 522
go: ENSG00000162951;
snps: rs6733871
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; endoplasmic reticulum [GO:0005783]; excitatory synapse [GO:0060076]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; integral component of postsynaptic specialization membrane [GO:0099060]; exploration behavior [GO:0035640]; locomotory behavior [GO:0007626]; long-term synaptic potentiation [GO:0060291]; negative regulation of receptor internalization [GO:0002091]; positive regulation of synapse assembly [GO:0051965]; protein localization to synapse [GO:0035418]; regulation of postsynaptic density assembly [GO:0099151]; regulation of presynapse assembly [GO:1905606]; synapse organization [GO:0050808]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: O75197
geneSymbol: LRP5
reactome: R-HSA-201681;R-HSA-3772470;R-HSA-4641262;R-HSA-4641263;R-HSA-5339717;R-HSA-5340588;
length: 1615
go: ENSG00000162337;
name:
Low-density lipoprotein receptor-related protein 5 (LRP-5) (Low-density lipoprotein receptor-related protein 7) (LRP-7)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; Wnt signalosome [GO:1990909]; Wnt-Frizzled-LRP5/6 complex [GO:1990851]; coreceptor activity involved in canonical Wnt signaling pathway [GO:1904928]; coreceptor activity involved in Wnt signaling pathway [GO:0071936]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; adipose tissue development [GO:0060612]; anterior/posterior pattern specification [GO:0009952]; bone marrow development [GO:0048539]; bone morphogenesis [GO:0060349]; bone remodeling [GO:0046849]; branching involved in mammary gland duct morphogenesis [GO:0060444]; canonical Wnt signaling pathway [GO:0060070]; cholesterol homeostasis [GO:0042632]; endocytosis [GO:0006897]; gastrulation with mouth forming second [GO:0001702]; glucose catabolic process [GO:0006007]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; osteoblast development [GO:0002076]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of blood pressure [GO:0008217]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; retina morphogenesis in camera-type eye [GO:0060042]; retinal blood vessel morphogenesis [GO:0061304]; toxin transport [GO:1901998]; Wnt signaling pathway [GO:0016055]

snps:
rs41494349 rs143433231 rs80358305 rs121908669 rs121908668 rs80358306 rs760548029 rs121908671 rs121908672 rs121908670 rs397514665 rs121908673 rs1219101402 rs201320326 rs750791263 rs757888034 rs376152274 rs80358308 rs930355318 rs866606166 rs121908664 rs80358309 rs80358310 rs80358311 rs80358312 rs121908665 rs80358313 rs80358314 rs989864153 rs4988321 rs1470530779 rs746701187 rs121908674 rs80358316 rs765952535 rs1398692057 rs61889560 rs377258285 rs80358317 rs80358318 rs11607268 rs768615287 rs3736228 rs80358320 rs28939709 rs201030241 rs1127291 rs144376510 rs141407040 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q91VN0}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q91VN0}. Endoplasmic reticulum {ECO:0000269|PubMed:25920554}. Note=Chaperoned to the plasma membrane by MESD. {ECO:0000250|UniProtKB:Q91VN0}.


uniprotID: O75581
geneSymbol: LRP6
reactome: R-HSA-201681;R-HSA-3772470;R-HSA-4641262;R-HSA-4641263;R-HSA-5340588;
pdb: 3S2K;3S8V;3S8Z;3S94;3SOB;3SOQ;3SOV;4A0P;4DG6;4NM5;4NM7;5AIR;5FWW;5GJE;
name: Low-density lipoprotein receptor-related protein 6 (LRP-6)
length: 1613
go: ENSG00000070018;
sequence:

opentargets:
caveola [GO:0005901]; cell surface [GO:0009986]; cytoplasmic vesicle [GO:0031410]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; synapse [GO:0045202]; Wnt signalosome [GO:1990909]; Wnt-Frizzled-LRP5/6 complex [GO:1990851]; apolipoprotein binding [GO:0034185]; coreceptor activity involved in canonical Wnt signaling pathway [GO:1904928]; coreceptor activity involved in Wnt signaling pathway [GO:0071936]; frizzled binding [GO:0005109]; identical protein binding [GO:0042802]; kinase inhibitor activity [GO:0019210]; low-density lipoprotein particle receptor activity [GO:0005041]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; toxin transmembrane transporter activity [GO:0019534]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; anterior/posterior pattern specification [GO:0009952]; axis elongation involved in somitogenesis [GO:0090245]; beta-catenin destruction complex disassembly [GO:1904886]; bone morphogenesis [GO:0060349]; bone remodeling [GO:0046849]; branching involved in mammary gland duct morphogenesis [GO:0060444]; canonical Wnt signaling pathway [GO:0060070]; canonical Wnt signaling pathway involved in neural crest cell differentiation [GO:0044335]; canonical Wnt signaling pathway involved in regulation of cell proliferation [GO:0044340]; cell-cell adhesion [GO:0098609]; cellular response to cholesterol [GO:0071397]; cerebellum morphogenesis [GO:0021587]; cerebral cortex development [GO:0021987]; chemical synaptic transmission [GO:0007268]; convergent extension [GO:0060026]; dopaminergic neuron differentiation [GO:0071542]; embryonic camera-type eye morphogenesis [GO:0048596]; embryonic limb morphogenesis [GO:0030326]; embryonic pattern specification [GO:0009880]; embryonic retina morphogenesis in camera-type eye [GO:0060059]; external genitalia morphogenesis [GO:0035261]; face morphogenesis [GO:0060325]; gastrulation with mouth forming second [GO:0001702]; midbrain development [GO:0030901]; midbrain dopaminergic neuron differentiation [GO:1904948]; midbrain-hindbrain boundary development [GO:0030917]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; negative regulation of smooth muscle cell apoptotic process [GO:0034392]; neural crest cell differentiation [GO:0014033]; neural crest formation [GO:0014029]; neural tube closure [GO:0001843]; odontogenesis of dentin-containing tooth [GO:0042475]; pericardium morphogenesis [GO:0003344]; positive regulation of cell cycle [GO:0045787]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; primitive streak formation [GO:0090009]; protein localization to plasma membrane [GO:0072659]; receptor-mediated endocytosis involved in cholesterol transport [GO:0090118]; response to peptide hormone [GO:0043434]; roof of mouth development [GO:0060021]; thalamus development [GO:0021794]; trachea cartilage morphogenesis [GO:0060535]; Wnt signaling pathway [GO:0016055]; Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation [GO:1904953]; Wnt signaling pathway involved in somitogenesis [GO:0090244]

snps:
rs864309648 rs141212743 rs397515473 rs397515474 rs7975614 rs121918313 rs2302686 rs2302685 rs34815107 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26387593}; Single-pass type I membrane protein. Endoplasmic reticulum {ECO:0000269|PubMed:26387593}. Membrane raft {ECO:0000269|PubMed:23987510}. Note=On Wnt signaling, undergoes a cycle of caveolin- or clathrin-mediated endocytosis and plasma membrane location. Released from the endoplasmic reticulum on palmitoylation. Mono-ubiquitination retains it in the endoplasmic reticulum in the absence of palmitoylation. On Wnt signaling, phosphorylated, aggregates and colocalizes with AXIN1 and GSK3B at the plasma membrane in LRP6-signalsomes. Chaperoned to the plasma membrane by MESD (By similarity). {ECO:0000250}.


uniprotID: Q8N967
geneSymbol: LRTM2
name: Leucine-rich repeat and transmembrane domain-containing protein 2
length: 370
go: ENSG00000166159;
opentargets: integral component of membrane [GO:0016021]; positive regulation of synapse assembly [GO:0051965]
snps: rs41276696
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9Y333
geneSymbol: LSM2
reactome: R-HSA-430039;R-HSA-72163;R-HSA-72165;
pdb: 3JCR;5O9Z;
sequence: MLFYSFFKSLVGKDVVVELKNDLSICGTLHSVDQYLNIKLTDISVTDPEKYPHMLSVKNCFIRGSVVRYVQLPADEVDTQLLQDAARKEALQQKQ
length: 95
go: ENSG00000204392;
name:
U6 snRNA-associated Sm-like protein LSm2 (Protein G7b) (Small nuclear ribonuclear protein D homolog) (snRNP core Sm-like protein Sm-x5)

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; Lsm1-7-Pat1 complex [GO:1990726]; Lsm2-8 complex [GO:0120115]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U6 snRNP [GO:0005688]; Ral GTPase binding [GO:0017160]; RNA binding [GO:0003723]; U6 snRNA binding [GO:0017070]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; mRNA splicing, via spliceosome [GO:0000398]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10523320, ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}.


uniprotID: Q8N8F7
geneSymbol: LSMEM1
name: Leucine-rich single-pass membrane protein 1
length: 131
go: ENSG00000181016;
opentargets: cytosol [GO:0005829]; integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MTHSSQDTGSCGIQEDGKLYVVDSINDLNKLNLCPAGSQHLFPLEDKIPVLGTNSGNGSRSLFFVGLLIVLIVSLALVFFVIFLIVQTGNKMDDVSRRLTAEGKDIDDLKRINNMIVKRLNQLNQLDSEQN

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N8F7-1; Sequence=Displayed; Name=2; IsoId=Q8N8F7-2; Sequence=VSP_029104; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 


uniprotID: Q9NS15
geneSymbol: LTBP3
reactome: R-HSA-2129379;
name: Latent-transforming growth factor beta-binding protein 3 (LTBP-3)
length: 1303
go: ENSG00000168056;
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; transforming growth factor beta binding [GO:0050431]; positive regulation of mesenchymal stem cell differentiation [GO:2000741]; positive regulation of mesenchymal stem cell proliferation [GO:1902462]; transforming growth factor beta activation [GO:0036363]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NS15-1; Sequence=Displayed; Name=2; IsoId=Q9NS15-2; Sequence=VSP_009241; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12154076}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:16157329}. Note=Secretion occurs after coexpression with TGFB1 and requires complexing with 'Cys-33' of the TGFB1 propeptide. {ECO:0000269|PubMed:12154076}.


uniprotID: Q9BYR4
geneSymbol: KRTAP4-3
reactome: R-HSA-6805567;
length: 195
go: ENSG00000196156;
snps: rs428371 rs428371
name:
Keratin-associated protein 4-3 (Keratin-associated protein 4.3) (Ultrahigh sulfur keratin-associated protein 4.3)

sequence:
MVSSCCGSVCSDQSCGQGLGQESCCRPSCCQTTCCRTTCCRPSCCISSCCRPSCCISSCCKPSCCRTTCCRPSCCISSCCRPSCCISSCCKPSCCRTTCCRPSCCISSCCRPSCCISSCCKPSCCQTTCCRPSCCISSCYRPQCCQPSCCRPACCISSCCHPSCCVSSCRCPFSCPTTCCRTTCFHPICCGSSCC

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


uniprotID: Q9NRM7
geneSymbol: LATS2
reactome: R-HSA-2028269;
pdb: 4ZRI;
length: 1088
go: ENSG00000150457;
snps: rs55842804 rs558614 rs2770928 rs35368391 rs45523141 rs56116059
name:
Serine/threonine-protein kinase LATS2 (EC 2.7.11.1) (Kinase phosphorylated during mitosis protein) (Large tumor suppressor homolog 2) (Serine/threonine-protein kinase kpm) (Warts-like kinase)

sequence:

opentargets:
cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; cell division [GO:0051301]; G1/S transition of mitotic cell cycle [GO:0000082]; hippo signaling [GO:0035329]; hormone-mediated signaling pathway [GO:0009755]; intracellular signal transduction [GO:0035556]; 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]; protein phosphorylation [GO:0006468]; regulation of organ growth [GO:0046620]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Cytoplasm, cytoskeleton, spindle pole. Nucleus. Note=Colocalizes with AURKA at the centrosomes during interphase, early prophase and cytokinesis. Migrates to the spindle poles during mitosis, and to the midbody during cytokinesis. Translocates to the nucleus upon mitotic stress by nocodazole treatment.


uniprotID: Q6UYE1
geneSymbol: DLEU7
name: Leukemia-associated protein 7 (Deleted in lymphocytic leukemia 7)
length: 221
go: ENSG00000186047;
snps: rs898861
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q6UYE1-1; Sequence=Displayed; Name=2; IsoId=Q6UYE1-2; Sequence=VSP_024027; 


uniprotID: Q93052
geneSymbol: LPP
name: Lipoma-preferred partner (LIM domain-containing preferred translocation partner in lipoma)
length: 612
go: ENSG00000145012;
snps: rs35417432 rs35940579 rs7645635
sequence:

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; cell adhesion [GO:0007155]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cell junction. Cell membrane. Note=Found in the nucleus, in the cytoplasm and at cell adhesion sites. Shuttles between the cytoplasm and the nucleus. It has been found in sites of cell adhesion such as cell-to-cell contact and focal adhesion which are membrane attachment sites of cells to the extracellular matrix. Mainly nuclear when fused with HMGA2/HMGIC and KMT2A/MLL1.


uniprotID: P42285
geneSymbol: MTREX
reactome: R-HSA-6791226;R-HSA-72163;
pdb: 6C90;6D6Q;6D6R;
length: 1042
go: ENSG00000039123;
snps: rs35643285
name:
Exosome RNA helicase MTR4 (EC 3.6.4.13) (ATP-dependent RNA helicase DOB1) (ATP-dependent RNA helicase SKIV2L2) (Superkiller viralicidic activity 2-like 2) (TRAMP-like complex helicase)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; TRAMP complex [GO:0031499]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; RNA binding [GO:0003723]; maturation of 5.8S rRNA [GO:0000460]; mRNA splicing, via spliceosome [GO:0000398]; RNA catabolic process [GO:0006401]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Nucleus, nucleolus. Nucleus {ECO:0000269|PubMed:16782053}.


uniprotID: Q8N3F0
geneSymbol: MTURN
name: Maturin (Maturin neural progenitor differentiation regulator protein homolog) (Protein Ells1)
length: 131
go: ENSG00000180354;
opentargets: multicellular organism development [GO:0007275]
sequence:
MDFQQLADVAEKWCSNTPFELIATEETERRMDFYADPGVSFYVLCPDNGCGDNFHVWSESEDCLPFLQLAQDYISSCGKKTLHEVLEKVFKSFRPLLGLPDADDDAFEEYSADVEEEEPEADHPQMGVSQQ

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N3F0-1; Sequence=Displayed; Name=2; IsoId=Q8N3F0-2; Sequence=VSP_026609; Note=No experimental confirmation available.; Name=3; IsoId=Q8N3F0-3; Sequence=VSP_026608; Note=No experimental confirmation available.; Name=4; IsoId=Q8N3F0-4; Sequence=VSP_053525; Note=No experimental confirmation available.; 


uniprotID: Q5JR59
geneSymbol: MTUS2
length: 1369
go: ENSG00000132938;
snps: rs12874207 rs17073511
name:
Microtubule-associated tumor suppressor candidate 2 (Cardiac zipper protein) (Microtubule plus-end tracking protein TIP150) (Tracking protein of 150 kDa)

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; nucleus [GO:0005634]; microtubule binding [GO:0008017]; protein homodimerization activity [GO:0042803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JR59-2; Sequence=Displayed; Name=2; IsoId=Q5JR59-3; Sequence=VSP_023541, VSP_023543; Note=No experimental confirmation available.; Name=3; IsoId=Q5JR59-4; Sequence=VSP_023540; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19543227}. Note=Associated with the microtubule network at the growing distal tip (the plus-end) of microtubules.


uniprotID: Q13505
geneSymbol: MTX1
reactome: R-HSA-1268020;R-HSA-8949613;
name: Metaxin-1 (Mitochondrial outer membrane import complex protein 1)
length: 466
go: ENSG00000173171;
snps: rs760077
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial sorting and assembly machinery complex [GO:0001401]; lactation [GO:0007595]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13505-1; Sequence=Displayed; Name=2; IsoId=Q13505-2; Sequence=VSP_035742; Name=3; IsoId=Q13505-3; Sequence=VSP_035741; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Mitochondrion outer membrane {ECO:0000250}.


uniprotID: O75431
geneSymbol: MTX2
reactome: R-HSA-1268020;R-HSA-8949613;
name: Metaxin-2 (Mitochondrial outer membrane import complex protein 2)
length: 263
go: ENSG00000128654;
sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; mitochondrial sorting and assembly machinery complex [GO:0001401]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; mitochondrial transport [GO:0006839]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75431-1; Sequence=Displayed; Name=2; IsoId=O75431-2; Sequence=VSP_054468; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:10381257}. Mitochondrion {ECO:0000269|PubMed:25997101}.


uniprotID: Q5HYI7
geneSymbol: MTX3
name: Metaxin-3
length: 312
go: ENSG00000177034;
opentargets: mitochondrial sorting and assembly machinery complex [GO:0001401]; protein transport [GO:0015031]
snps: rs9293796
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5HYI7-1; Sequence=Displayed; Name=2; IsoId=Q5HYI7-2; Sequence=VSP_033893, VSP_033894; Note=No experimental confirmation available.; Name=3; IsoId=Q5HYI7-4; Sequence=VSP_036207, VSP_036208; Note=No experimental confirmation available.; Name=4; IsoId=Q5HYI7-5; Sequence=VSP_046824; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:26477565}. Mitochondrion outer membrane {ECO:0000305}.


uniprotID: Q9H3R2
geneSymbol: MUC13
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-13 (MUC-13) (Down-regulated in colon cancer 1)
length: 512
go: ENSG00000173702;
snps: rs4679394 rs4679392 rs16836185 rs1127233
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; protein homodimerization activity [GO:0042803]; maintenance of gastrointestinal epithelium [GO:0030277]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11278439}; Single-pass type I membrane protein {ECO:0000269|PubMed:11278439}. Apical cell membrane {ECO:0000269|PubMed:11278439}. Secreted {ECO:0000269|PubMed:11278439}. Note=Also exists as a soluble form.


uniprotID: Q685J3
geneSymbol: MUC17
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-17 (MUC-17) (Small intestinal mucin-3) (MUC-3)
length: 4493
go: ENSG00000169876;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; collagen-containing extracellular matrix [GO:0062023]; external side of plasma membrane [GO:0009897]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; extracellular matrix constituent, lubricant activity [GO:0030197]; PDZ domain binding [GO:0030165]; cellular homeostasis [GO:0019725]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

snps:
rs10229731 rs10259584 rs56103274 rs34834039 rs149445753 rs10238201 rs4729646 rs4729647 rs10265276 rs4729652 rs4729651 rs4729653 rs4269454 rs4367469 rs7780935 rs28593004 rs28555173 rs35988443 rs6946812 rs9656065 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Major, Mb-MUC17; IsoId=Q685J3-1; Sequence=Displayed; Name=2; Synonyms=Minor, s-MUC17; IsoId=Q685J3-2; Sequence=VSP_032648, VSP_032649; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}. Cell membrane.


uniprotID: P15941
geneSymbol: MUC1
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-6785807;R-HSA-913709;R-HSA-977068;
pdb: 1SM3;2ACM;2FO4;5T6P;5T78;
length: 1255
go: ENSG00000185499;
snps: rs1611770 rs11465207
name:
Mucin-1 (MUC-1) (Breast carcinoma-associated antigen DF3) (Cancer antigen 15-3) (CA 15-3) (Carcinoma-associated mucin) (Episialin) (H23AG) (Krebs von den Lungen-6) (KL-6) (PEMT) (Peanut-reactive urinary mucin) (PUM) (Polymorphic epithelial mucin) (PEM) (Tumor-associated epithelial membrane antigen) (EMA) (Tumor-associated mucin) (CD antigen CD227) [Cleaved into: Mucin-1 subunit alpha (MUC1-NT) (MUC1-alpha); Mucin-1 subunit beta (MUC1-beta) (MUC1-CT)]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; integral component of plasma membrane [GO:0005887]; nuclear chromatin [GO:0000790]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; p53 binding [GO:0002039]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coregulator activity [GO:0003712]; cytokine-mediated signaling pathway [GO:0019221]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; negative regulation of cell adhesion mediated by integrin [GO:0033629]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; negative regulation of transcription by competitive promoter binding [GO:0010944]; O-glycan processing [GO:0016266]; positive regulation of histone H4 acetylation [GO:0090240]; positive regulation of transcription from RNA polymerase II promoter in response to stress [GO:0036003]; regulation of transcription from RNA polymerase II promoter in response to stress [GO:0043618]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=17;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=A; IsoId=P15941-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P15941-2; Sequence=VSP_003280; Name=3; Synonyms=C; IsoId=P15941-3; Sequence=VSP_003281; Name=4; Synonyms=D; IsoId=P15941-4; Sequence=VSP_003282; Name=5; Synonyms=SEC; IsoId=P15941-5; Sequence=VSP_003288, VSP_003289; Name=6; Synonyms=X; IsoId=P15941-6; Sequence=VSP_003283, VSP_003284; Name=Y; Synonyms=MUC1/Y; IsoId=P15941-7; Sequence=VSP_003285; Name=8; Synonyms=Z; IsoId=P15941-8; Sequence=VSP_003286; Name=9; Synonyms=S; IsoId=P15941-9; Sequence=VSP_003286, VSP_003287; Name=F; IsoId=P15941-10; Sequence=VSP_035046, VSP_035047; Name=Y-LSP; IsoId=P15941-11; Sequence=VSP_003280, VSP_003285; Note=Lacks the mucin repeats.; Name=S2; IsoId=P15941-12; Sequence=VSP_003280, VSP_003285, VSP_003287; Name=M6; IsoId=P15941-13; Sequence=VSP_003286, VSP_046962, VSP_046963; Name=ZD; Synonyms=J19; IsoId=P15941-14; Sequence=VSP_047575, VSP_047576; Note=Lacks the mucin repeats. Exists as a disulfide-linked oligomer.; Name=T10; IsoId=P15941-15; Sequence=VSP_003280, VSP_047873; Name=E2; IsoId=P15941-16; Sequence=VSP_003280, VSP_047872; Name=J13; IsoId=P15941-17; Sequence=VSP_003280, VSP_003285, VSP_047874; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:11118479, ECO:0000269|PubMed:12832415, ECO:0000269|PubMed:12939402, ECO:0000269|PubMed:15471854, ECO:0000269|PubMed:15972891, ECO:0000269|PubMed:16507569, ECO:0000269|PubMed:17524503, ECO:0000269|PubMed:17545600}; Single-pass type I membrane protein {ECO:0000269|PubMed:11118479, ECO:0000269|PubMed:12832415, ECO:0000269|PubMed:12939402, ECO:0000269|PubMed:15471854, ECO:0000269|PubMed:15972891, ECO:0000269|PubMed:16507569, ECO:0000269|PubMed:17524503, ECO:0000269|PubMed:17545600}. Note=Exclusively located in the apical domain of the plasma membrane of highly polarized epithelial cells. After endocytosis, internalized and recycled to the cell membrane. Located to microvilli and to the tips of long filopodial protusions.; SUBCELLULAR LOCATION: Isoform 5: Secreted.; SUBCELLULAR LOCATION: Isoform Y: Secreted.; SUBCELLULAR LOCATION: Isoform 9: Secreted.; SUBCELLULAR LOCATION: Mucin-1 subunit beta: Cell membrane. Cytoplasm. Nucleus. Note=On EGF and PDGFRB stimulation, transported to the nucleus through interaction with CTNNB1, a process which is stimulated by phosphorylation. On HRG stimulation, colocalizes with JUP/gamma-catenin at the nucleus.


uniprotID: Q9H195
geneSymbol: MUC3B
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-3B (MUC-3B) (Intestinal mucin-3B) (Fragments)
length: 1237
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]


uniprotID: Q8TAX7
geneSymbol: MUC7
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-7 (MUC-7) (Apo-MG2) (Salivary mucin-7)
length: 377
go: ENSG00000171195;
snps: rs6826961
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:7690757}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi lumen [GO:0005796]; other organism cell membrane [GO:0044218]; other organism cytoplasm [GO:0097679]; plasma membrane [GO:0005886]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; killing of cells of other organism [GO:0031640]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]


uniprotID: A6NIK2
geneSymbol: LRRC10B
name: Leucine-rich repeat-containing protein 10B
length: 292
go: ENSG00000204950;
sequence:


uniprotID: Q0VAA2
geneSymbol: LRRC74A
name: Leucine-rich repeat-containing protein 74A (Leucine-rich repeat-containing protein 74)
length: 488
go: ENSG00000100565;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0VAA2-1; Sequence=Displayed; Name=2; IsoId=Q0VAA2-2; Sequence=VSP_028425, VSP_028426, VSP_028427; Note=No experimental confirmation available.; 


uniprotID: Q8N5H3
geneSymbol: FAM89B
name: Leucine repeat adapter protein 25
length: 189
go: ENSG00000176973;
sequence:
MNGLPSAEAPGGAGCALAGLPPLPRGLSGLLNASGGSWRELERVYSQRSRIHDELSRAARAPDGPRHAAGAANAGPAAGPRRPVNLDSALAALRKEMVGLRQLDMSLLCQLWGLYESIQDYKHLCQDLSFCQDLSSSLHSDSSYPPDAGLSDDEEPPDASLPPDPPPLTVPQTHNARDQWLQDAFHISL

opentargets:
cytoplasm [GO:0005737]; lamellipodium [GO:0030027]; transcription corepressor binding [GO:0001222]; establishment of cell polarity [GO:0030010]; negative regulation of SMAD protein signal transduction [GO:0060392]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; positive regulation of cell migration [GO:0030335]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; IsoId=Q8N5H3-3; Sequence=Displayed; Name=1; IsoId=Q8N5H3-1; Sequence=VSP_045015; Name=2; IsoId=Q8N5H3-2; Sequence=VSP_045016; Note=No experimental confirmation available.; Name=4; IsoId=Q8N5H3-4; Sequence=VSP_045631, VSP_045632; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000250|UniProtKB:Q9QUI1}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q9QUI1}. Note=Co-localizes with CDC42BPA, CDC42BPB and LIMK1 in the lamellipodium. {ECO:0000250|UniProtKB:Q9QUI1}.


uniprotID: Q5T700
geneSymbol: LDLRAD1
name: Low-density lipoprotein receptor class A domain-containing protein 1
length: 205
go: ENSG00000203985;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5T700-1; Sequence=Displayed; Name=2; IsoId=Q5T700-2; Sequence=VSP_027617; Name=3; IsoId=Q5T700-3; Sequence=VSP_027618; Name=4; IsoId=Q5T700-4; Sequence=VSP_054532; Note=No experimental confirmation available.; 


uniprotID: Q5SZI1
geneSymbol: LDLRAD2
name: Low-density lipoprotein receptor class A domain-containing protein 2
length: 272
go: ENSG00000187942;
opentargets: integral component of membrane [GO:0016021]
snps: rs10917051
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: O15165
geneSymbol: LDLRAD4
name: Low-density lipoprotein receptor class A domain-containing protein 4
length: 306
go: ENSG00000168675;
sequence:

opentargets:
early endosome membrane [GO:0031901]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; R-SMAD binding [GO:0070412]; negative regulation of cell migration [GO:0030336]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of SMAD protein complex assembly [GO:0010991]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=Alpha-1; IsoId=O15165-1; Sequence=Displayed; Name=Alpha-2; IsoId=O15165-2; Sequence=VSP_006440; Name=Beta-1; IsoId=O15165-3; Sequence=VSP_006439; Name=Beta-2; IsoId=O15165-4; Sequence=VSP_006439, VSP_006440; Name=5; IsoId=O15165-5; Sequence=VSP_013901; Name=6; IsoId=O15165-6; Sequence=VSP_043253; Note=No experimental confirmation available.; Name=7; IsoId=O15165-7; Sequence=VSP_043253, VSP_006440; Note=No experimental confirmation available.; Name=8; IsoId=O15165-8; Sequence=VSP_054772; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:24627487}; Single-pass membrane protein {ECO:0000269|PubMed:24627487}.


uniprotID: Q9C0I9
geneSymbol: LRRC27
name: Leucine-rich repeat-containing protein 27
length: 530
go: ENSG00000148814;
snps: rs2474329
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9C0I9-1; Sequence=Displayed; Name=2; IsoId=Q9C0I9-2; Sequence=VSP_017039; Name=3; IsoId=Q9C0I9-3; Sequence=VSP_017040, VSP_017041; Name=4; IsoId=Q9C0I9-4; Sequence=VSP_017042, VSP_017041; Note=No experimental confirmation available.; 


uniprotID: O95237
geneSymbol: LRAT
reactome: R-HSA-2453864;R-HSA-2453902;R-HSA-975634;
name: Lecithin retinol acyltransferase (EC 2.3.1.135) (Phosphatidylcholine--retinol O-acyltransferase)
length: 230
go: ENSG00000121207;
drug: DB00162;
snps: rs1448665709 rs104893848
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; multivesicular body [GO:0005771]; perinuclear region of cytoplasm [GO:0048471]; rough endoplasmic reticulum [GO:0005791]; lecithin:11-cis retinol acyltransferase activity [GO:0102279]; O-palmitoyltransferase activity [GO:0016416]; phosphatidylcholine-retinol O-acyltransferase activity [GO:0047173]; retinoic acid binding [GO:0001972]; retinol binding [GO:0019841]; transferase activity, transferring acyl groups [GO:0016746]; cellular response to leukemia inhibitory factor [GO:1990830]; positive regulation of lipid transport [GO:0032370]; response to bacterium [GO:0009617]; response to retinoic acid [GO:0032526]; response to vitamin A [GO:0033189]; retinoid metabolic process [GO:0001523]; retinol metabolic process [GO:0042572]; visual perception [GO:0007601]; vitamin A metabolic process [GO:0006776]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Rough endoplasmic reticulum {ECO:0000250}. Endosome, multivesicular body {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Note=Present in the rough endoplasmic reticulum and multivesicular body in hepatic stellate cells. Present in the rough endoplasmic reticulum and perinuclear region in endothelial cells (By similarity). {ECO:0000250}.


uniprotID: Q8WV35
geneSymbol: LRRC29
length: 223
go: ENSG00000125122;
snps: rs3743728 rs34595673
name:
Leucine-rich repeat-containing protein 29 (F-box and leucine-rich repeat protein 9) (F-box protein FBL9) (F-box/LRR-repeat protein 9)

sequence:

opentargets:
SCF ubiquitin ligase complex [GO:0019005]; protein ubiquitination [GO:0016567]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q6UY01
geneSymbol: LRRC31
name: Leucine-rich repeat-containing protein 31
length: 552
go: ENSG00000114248;
snps: rs35923425 rs3732452 rs35923425
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6UY01-1; Sequence=Displayed; Name=2; IsoId=Q6UY01-2; Sequence=VSP_017797; Name=3; IsoId=Q6UY01-3; Sequence=VSP_017798, VSP_017799; Name=4; IsoId=Q6UY01-4; Sequence=VSP_055910, VSP_055911; Note=No experimental confirmation available.; 


uniprotID: Q14392
geneSymbol: LRRC32
length: 662
go: ENSG00000137507;
snps: rs35033061 rs35130967
name:
Transforming growth factor beta activator LRRC32 (Garpin) (Glycoprotein A repetitions predominant) (GARP) (Leucine-rich repeat-containing protein 32)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; transforming growth factor beta binding [GO:0050431]; negative regulation of activated T cell proliferation [GO:0046007]; negative regulation of cytokine secretion [GO:0050710]; positive regulation of gene expression [GO:0010628]; regulation of transforming growth factor beta activation [GO:1901388]; regulation of transforming growth factor beta3 activation [GO:1901398]; secondary palate development [GO:0062009]; transforming growth factor beta receptor signaling pathway [GO:0007179]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19651619, ECO:0000269|PubMed:19750484}; Single-pass type I membrane protein {ECO:0000255}. Cell surface {ECO:0000269|PubMed:19651619, ECO:0000269|PubMed:19750484}.


uniprotID: Q15345
geneSymbol: LRRC41
reactome: R-HSA-8951664;R-HSA-983168;
name: Leucine-rich repeat-containing protein 41 (Protein Muf1)
length: 812
go: ENSG00000132128;
snps: rs11542623
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; protein homodimerization activity [GO:0042803]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q15345-2; Sequence=Displayed; Name=3; IsoId=Q15345-3; Sequence=VSP_009234, VSP_009235; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q1X8D7
geneSymbol: LRRC36
name: Leucine-rich repeat-containing protein 36 (ROR gamma-binding protein 70)
length: 754
go: ENSG00000159708;
snps: rs9922085 rs8052655 rs16957415
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q1X8D7-1; Sequence=Displayed; Name=2; IsoId=Q1X8D7-2; Sequence=VSP_022963, VSP_022964; Name=3; IsoId=Q1X8D7-3; Sequence=VSP_057264, VSP_057265, VSP_057266; Note=No experimental confirmation available.; 


uniprotID: Q96DD0
geneSymbol: LRRC39
length: 335
go: ENSG00000122477;
opentargets: M band [GO:0031430]
snps: rs34920283
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line {ECO:0000250|UniProtKB:D3ZXS4}.
name:
Leucine-rich repeat-containing protein 39 (Myosin-interacting M-band-associated stress-responsive protein) (Myomasp)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DD0-1; Sequence=Displayed; Name=2; IsoId=Q96DD0-2; Sequence=VSP_017913; Note=No experimental confirmation available.; 


uniprotID: Q8IUZ0
geneSymbol: LRRC49
reactome: R-HSA-8955332;
name: Leucine-rich repeat-containing protein 49 (Tubulin polyglutamylase complex subunit 4) (PGs4)
length: 686
go: ENSG00000137821;
opentargets: cytoplasm [GO:0005737]; microtubule [GO:0005874]; outer dynein arm assembly [GO:0036158]
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IUZ0-1; Sequence=Displayed; Name=2; IsoId=Q8IUZ0-2; Sequence=VSP_044747; Note=No experimental confirmation available.; Name=3; IsoId=Q8IUZ0-3; Sequence=VSP_046801; Note=No experimental confirmation available.; Name=4; IsoId=Q8IUZ0-4; Sequence=VSP_055653; Note=No experimental confirmation available.; 


uniprotID: Q9HCJ2
geneSymbol: LRRC4C
pdb: 3ZYJ;
name: Leucine-rich repeat-containing protein 4C (Netrin-G1 ligand) (NGL-1)
length: 640
go: ENSG00000148948;
sequence:

opentargets:
cell junction [GO:0030054]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of postsynaptic density membrane [GO:0099061]; membrane [GO:0016020]; Schaffer collateral - CA1 synapse [GO:0098685]; cell adhesion molecule binding [GO:0050839]; cell-cell adhesion mediator activity [GO:0098632]; modulation of chemical synaptic transmission [GO:0050804]; regulation of axonogenesis [GO:0050770]; synaptic membrane adhesion [GO:0099560]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:14595443, ECO:0000269|PubMed:21946559}; Single-pass type I membrane protein {ECO:0000269|PubMed:14595443, ECO:0000269|PubMed:21946559}.


uniprotID: A6NM62
geneSymbol: LRRC53
name: Leucine-rich repeat-containing protein 53
length: 1247
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8IYG6
geneSymbol: LRRC56
name: Leucine-rich repeat-containing protein 56
length: 542
go: ENSG00000161328;
snps: rs2277269 rs4963198 rs12793222 rs10902170 rs10902171
sequence:


uniprotID: Q7L1W4
geneSymbol: LRRC8D
reactome: R-HSA-5223345;
length: 858
go: ENSG00000171492;
snps: rs11552246
name:
Volume-regulated anion channel subunit LRRC8D (Leucine-rich repeat-containing protein 5) (Leucine-rich repeat-containing protein 8D)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; ion channel complex [GO:0034702]; membrane [GO:0016020]; plasma membrane [GO:0005886]; volume-sensitive anion channel activity [GO:0005225]; anion transmembrane transport [GO:0098656]; aspartate transmembrane transport [GO:0015810]; cell volume homeostasis [GO:0006884]; cellular response to osmotic stress [GO:0071470]; taurine transport [GO:0015734]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:28193731}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:24782309, ECO:0000305|PubMed:24790029}. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum (PubMed:24782309, PubMed:24790029). Requires LRRC8A for expression at the cell membrane (PubMed:24790029). {ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029}.


uniprotID: Q9BTN0
geneSymbol: LRFN3
reactome: R-HSA-8849932;
length: 628
go: ENSG00000126243;
snps: rs34933126
name:
Leucine-rich repeat and fibronectin type-III domain-containing protein 3 (Synaptic adhesion-like molecule 4)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cell surface [GO:0009986]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic active zone membrane [GO:0099059]; plasma membrane [GO:0005886]; regulation of presynapse assembly [GO:1905606]; regulation of synaptic membrane adhesion [GO:0099179]; synaptic membrane adhesion [GO:0099560]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}.


uniprotID: Q6PJG9
geneSymbol: LRFN4
reactome: R-HSA-8849932;
name: Leucine-rich repeat and fibronectin type-III domain-containing protein 4
length: 635
go: ENSG00000173621;
snps: rs3741194
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

opentargets:
cell surface [GO:0009986]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; regulation of postsynaptic density assembly [GO:0099151]; regulation of presynapse assembly [GO:1905606]; synaptic membrane adhesion [GO:0099560]


uniprotID: Q05315
geneSymbol: CLC
pdb: 1G86;1HDK;1LCL;1QKQ;5XRG;5XRH;5XRI;5XRJ;5XRK;5XRL;5XRM;5XRN;5XRO;5XRP;5YT4;
length: 142
go: ENSG00000105205;
drug: DB02967;DB02983;
snps: rs17608
name:
Galectin-10 (Gal-10) (Charcot-Leyden crystal protein) (CLC) (Eosinophil lysophospholipase) (Lysolecithin acylhydrolase)

sequence:
MSLLPVPYTEAASLSTGSTVTIKGRPLACFLNEPYLQVDFHTEMKEESDIVFHFQVCFGRRVVMNSREYGAWKQQVESKNMPFQDGQEFELSISVLPDKYQVMVNGQSSYTFDHRIKPEAVKMVQVWRDISLTKFNVSYLKR

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; carbohydrate binding [GO:0030246]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; identical protein binding [GO:0042802]; multicellular organism development [GO:0007275]; regulation of activated T cell proliferation [GO:0046006]; regulation of T cell anergy [GO:0002667]; regulation of T cell cytokine production [GO:0002724]; T cell apoptotic process [GO:0070231]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:17502455}. Cytoplasmic granule {ECO:0000269|PubMed:17502455}. Note=Localized in granules from where it may be secreted or transported to other locations in the cell.


uniprotID: O94776
geneSymbol: MTA2
reactome: R-HSA-3214815;R-HSA-427389;R-HSA-6804758;R-HSA-73762;R-HSA-8943724;
length: 668
go: ENSG00000149480;
name:
Metastasis-associated protein MTA2 (Metastasis-associated 1-like 1) (MTA1-L1 protein) (p53 target protein in deacetylase complex)

sequence:

opentargets:
histone deacetylase complex [GO:0000118]; membrane [GO:0016020]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; protein-containing complex [GO:0032991]; transcription factor complex [GO:0005667]; 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 repressing transcription factor binding [GO:0001103]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; ATP-dependent chromatin remodeling [GO:0043044]; chromatin assembly or disassembly [GO:0006333]; DNA methylation [GO:0006306]; histone deacetylation [GO:0016575]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of fibroblast migration [GO:0010762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94776-1; Sequence=Displayed; Name=2; IsoId=O94776-2; Sequence=VSP_055083; Note=No experimental confirmation available.; 


uniprotID: O00182
geneSymbol: LGALS9
reactome: R-HSA-451927;
pdb: 2EAK;2EAL;2YY1;2ZHK;2ZHL;2ZHM;2ZHN;3LSD;3LSE;3NV1;3NV2;3NV3;3NV4;3WLU;3WV6;
name: Galectin-9 (Gal-9) (Ecalectin) (Tumor antigen HOM-HD-21)
length: 355
go: ENSG00000168961;
drug: DB04472;
snps: rs3751093
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; intracellular [GO:0005622]; nucleus [GO:0005634]; carbohydrate binding [GO:0030246]; disaccharide binding [GO:0048030]; enzyme binding [GO:0019899]; galactose binding [GO:0005534]; cellular response to interferon-gamma [GO:0071346]; cellular response to virus [GO:0098586]; chemotaxis [GO:0006935]; ERK1 and ERK2 cascade [GO:0070371]; female pregnancy [GO:0007565]; inflammatory response [GO:0006954]; maternal process involved in female pregnancy [GO:0060135]; natural killer cell tolerance induction [GO:0002519]; negative regulation of activated T cell proliferation [GO:0046007]; negative regulation of CD4-positive, alpha-beta T cell proliferation [GO:2000562]; negative regulation of chemokine production [GO:0032682]; negative regulation of gene expression [GO:0010629]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of mast cell degranulation [GO:0043305]; negative regulation of natural killer cell mediated cytotoxicity [GO:0045953]; negative regulation of tumor necrosis factor production [GO:0032720]; p38MAPK cascade [GO:0038066]; positive regulation of activated T cell autonomous cell death [GO:0070241]; positive regulation of CD4-positive, alpha-beta T cell proliferation [GO:2000563]; positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response [GO:0032834]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001269]; positive regulation of dendritic cell apoptotic process [GO:2000670]; positive regulation of dendritic cell chemotaxis [GO:2000510]; positive regulation of dendritic cell differentiation [GO:2001200]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interferon-gamma secretion [GO:1902715]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-10 secretion [GO:2001181]; positive regulation of interleukin-12 secretion [GO:2001184]; positive regulation of interleukin-13 secretion [GO:2000667]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of interleukin-8 secretion [GO:2000484]; positive regulation of monocyte chemotactic protein-1 production [GO:0071639]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell [GO:2001190]; positive regulation of transforming growth factor beta production [GO:0071636]; positive regulation of tumor necrosis factor secretion [GO:1904469]; positive regulation of viral entry into host cell [GO:0046598]; response to interleukin-1 [GO:0070555]; response to lipopolysaccharide [GO:0032496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Long, Gal-9FL {ECO:0000303|PubMed:24333696}; IsoId=O00182-1; Sequence=Displayed; Name=2; Synonyms=Medium, Gal-9delta5 {ECO:0000303|PubMed:24333696}, D5 {ECO:0000303|PubMed:23242525}; IsoId=O00182-2; Sequence=VSP_003096; Name=3; Synonyms=Short, Gal-9delta5/6 {ECO:0000303|PubMed:24333696}, D5/6 {ECO:0000303|PubMed:23242525}; IsoId=O00182-3; Sequence=VSP_003096, VSP_057842; Name=4; Synonyms=Gal-9delta5/10 {ECO:0000303|PubMed:24333696}, D5/10 {ECO:0000303|PubMed:23242525}; IsoId=O00182-4; Sequence=VSP_003096, VSP_057843; Name=5; Synonyms=Gal-9delta5/6/10 {ECO:0000303|PubMed:24333696}, D5/6/10 {ECO:0000303|PubMed:23242525}; IsoId=O00182-5; Sequence=VSP_003096, VSP_057842, VSP_057843; Name=6; Synonyms=D6 {ECO:0000303|PubMed:23242525}; IsoId=O00182-6; Sequence=VSP_057842; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23242525}. Nucleus {ECO:0000269|PubMed:23242525}. Secreted {ECO:0000269|PubMed:23817958, ECO:0000269|PubMed:25578313}. Note=May also be secreted by a non-classical secretory pathway (By similarity). Secreted by mesenchymal stromal cells upon IFNG stimulation (PubMed:23817958). {ECO:0000250|UniProtKB:O08573, ECO:0000269|PubMed:23817958}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:24333696}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000269|PubMed:24333696}.


uniprotID: Q9HAT1
geneSymbol: LMAN1L
reactome: R-HSA-204005;R-HSA-5694530;
name: Protein ERGIC-53-like (ERGIC53-like protein) (Lectin mannose-binding 1-like) (LMAN1-like protein)
length: 526
go: ENSG00000140506;
snps: rs3803568 rs1060480
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; 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]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; mannose binding [GO:0005537]; endoplasmic reticulum organization [GO:0007029]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HAT1-1; Sequence=Displayed; Name=2; IsoId=Q9HAT1-2; Sequence=Not described; Name=3; IsoId=Q9HAT1-3; Sequence=VSP_013143; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: Q8IXW0
geneSymbol: LMNTD2
name: Lamin tail domain-containing protein 2
length: 634
go: ENSG00000185522;
snps: rs2061586
sequence:


uniprotID: Q6ZMQ8
geneSymbol: AATK
length: 1374
go: ENSG00000181409;
snps: rs1337040042 rs8082016 rs7503604 rs56032966 rs56313973 rs55793641 rs55856613 rs36000545 rs55713566
name:
Serine/threonine-protein kinase LMTK1 (EC 2.7.11.1) (Apoptosis-associated tyrosine kinase) (AATYK) (Brain apoptosis-associated tyrosine kinase) (CDK5-binding protein) (Lemur tyrosine kinase 1) (p35-binding protein) (p35BP)

sequence:

opentargets:
integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZMQ8-1; Sequence=Displayed; Name=2; Synonyms=hAATYKs-p35BP; IsoId=Q6ZMQ8-2; Sequence=VSP_020225, VSP_020226, VSP_020227, VSP_020228; Name=3; IsoId=Q6ZMQ8-3; Sequence=VSP_020226, VSP_020227, VSP_020228; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:10837911}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:10837911}. Note=Predominantly perinuclear.


uniprotID: Q8IWU2
geneSymbol: LMTK2
length: 1503
go: ENSG00000164715;
name:
Serine/threonine-protein kinase LMTK2 (EC 2.7.11.1) (Apoptosis-associated tyrosine kinase 2) (Brain-enriched kinase) (hBREK) (CDK5/p35-regulated kinase) (CPRK) (Kinase/phosphatase/inhibitor 2) (Lemur tyrosine kinase 2) (Serine/threonine-protein kinase KPI-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; receptor complex [GO:0043235]; recycling endosome [GO:0055037]; ATP binding [GO:0005524]; myosin VI binding [GO:0070853]; protein phosphatase inhibitor activity [GO:0004864]; protein serine/threonine kinase activity [GO:0004674]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; cell differentiation [GO:0030154]; early endosome to late endosome transport [GO:0045022]; endocytic recycling [GO:0032456]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; receptor recycling [GO:0001881]; transferrin transport [GO:0033572]

snps:
rs3735252 rs147940573 rs34461195 rs34628253 rs56204700 rs11765552 rs56196840 rs34005293 rs55867257 rs3801295 rs35912712 rs56343792 rs45488394 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:23114966}; Multi-pass membrane protein {ECO:0000269|PubMed:23114966}.


uniprotID: Q03252
geneSymbol: LMNB2
pdb: 2LLL;5BNW;
name: Lamin-B2
length: 620
go: ENSG00000176619;
snps: rs797045143 rs121912497 rs774297966 rs57521499
location: SUBCELLULAR LOCATION: Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side.
sequence:

opentargets:
lamin filament [GO:0005638]; nuclear inner membrane [GO:0005637]; nuclear membrane [GO:0031965]; structural molecule activity [GO:0005198]


uniprotID: Q6ZN17
geneSymbol: LIN28B
pdb: 4A4I;
name: Protein lin-28 homolog B (Lin-28B)
length: 250
go: ENSG00000187772;
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; miRNA catabolic process [GO:0010587]; pre-miRNA processing [GO:0031054]; regulation of transcription, DNA-templated [GO:0006355]; RNA 3'-end processing [GO:0031123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZN17-1; Sequence=Displayed; Name=2; Synonyms=LIN28BS; IsoId=Q6ZN17-2; Sequence=VSP_027207; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus {ECO:0000269|PubMed:22118463}. Cytoplasm {ECO:0000269|PubMed:16971064}. Note=Predominantly nucleolar (PubMed:22118463). In Huh7 cells, predominantly cytoplasmic, with only a subset of cells exhibiting strong nuclear staining; however, the specificity of the polyclonal antibody used in these experiments has not been not documented (PubMed:16971064). {ECO:0000269|PubMed:16971064, ECO:0000269|PubMed:22118463}.


uniprotID: Q13585
geneSymbol: GPR50
name: Melatonin-related receptor (G protein-coupled receptor 50) (H9)
length: 617
go: ENSG00000102195;
snps: rs561077 rs13440581
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; identical protein binding [GO:0042802]; melatonin receptor activity [GO:0008502]; cell-cell signaling [GO:0007267]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: O75648
geneSymbol: TRMU
reactome: R-HSA-6787450;
name: Mitochondrial tRNA-specific 2-thiouridylase 1 (EC 2.8.1.14) (MTO2 homolog)
length: 421
go: ENSG00000100416;
snps: rs11090865 rs751248771 rs2272938 rs118203990 rs34012206 rs118203991 rs387907022 rs34152016
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; sulfurtransferase activity [GO:0016783]; tRNA binding [GO:0000049]; tRNA wobble position uridine thiolation [GO:0002143]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O75648-1; Sequence=Displayed; Name=2; IsoId=O75648-2; Sequence=VSP_035395; Name=3; IsoId=O75648-3; Sequence=VSP_035391, VSP_035392, VSP_035395; Name=4; IsoId=O75648-4; Sequence=VSP_035391, VSP_035392; Name=5; IsoId=O75648-5; Sequence=VSP_035393, VSP_035394; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15509579, ECO:0000269|PubMed:15944150, ECO:0000269|PubMed:16513084, ECO:0000269|PubMed:16826519}.


uniprotID: Q8WXI7
geneSymbol: MUC16
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
length: 14507
go: ENSG00000181143;
drug: DB04964;
name:
Mucin-16 (MUC-16) (Ovarian cancer-related tumor marker CA125) (CA-125) (Ovarian carcinoma antigen CA125)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extrinsic component of membrane [GO:0019898]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; cell adhesion [GO:0007155]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

snps:
rs17000957 rs17000950 rs10411228 rs10406202 rs17000947 rs1596797 rs12611293 rs1596798 rs4520945 rs1108380 rs1574479 rs10407633 rs11085805 rs10410933 rs10416013 rs10402538 rs17000886 rs10407623 rs2591594 rs1559172 rs1559171 rs1862460 rs17000770 rs1867691 rs11670461 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Secreted, extracellular space. Note=May be liberated into the extracellular space following the phosphorylation of the intracellular C-terminus which induces the proteolytic cleavage and liberation of the extracellular domain.


uniprotID: Q8N307
geneSymbol: MUC20
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-8851805;R-HSA-913709;R-HSA-977068;
name: Mucin-20 (MUC-20)
length: 709
go: ENSG00000176945;
snps: rs7627924 rs1811139 rs2550232 rs3828410 rs3828408 rs11923495 rs3762739
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; microvillus membrane [GO:0031528]; plasma membrane [GO:0005886]; activation of MAPK activity [GO:0000187]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; O-glycan processing [GO:0016266]; protein homooligomerization [GO:0051260]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=hMUC20-L; IsoId=Q8N307-1; Sequence=Displayed; Name=2; Synonyms=hMUC20-S; IsoId=Q8N307-3; Sequence=VSP_030980; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Apical cell membrane {ECO:0000269|PubMed:14565953}. Basolateral cell membrane {ECO:0000269|PubMed:14565953}. Cell projection, microvillus membrane {ECO:0000269|PubMed:14565953}.


uniprotID: Q5SSG8
geneSymbol: MUC21
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-21 (MUC-21) (Epiglycanin)
length: 566
go: ENSG00000204544;
sequence:

opentargets:
Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; negative regulation of cell-cell adhesion [GO:0022408]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

snps:
rs1634730 rs9262324 rs9262337 rs113760893 rs11756238 rs9262368 rs9262367 rs9262370 rs41288665 rs9262379 rs41288675 rs9262380 rs41288679 rs41288681 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5SSG8-1; Sequence=Displayed; Name=2; IsoId=Q5SSG8-2; Sequence=VSP_034188; Name=3; IsoId=Q5SSG8-3; Sequence=VSP_034189; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17977904}; Single-pass type I membrane protein {ECO:0000269|PubMed:17977904}; Extracellular side {ECO:0000269|PubMed:17977904}.


uniprotID: E2RYF6
geneSymbol: MUC22
name: Mucin-22 (Panbronchiolitis-related mucin-like protein 1)
length: 1773
go: ENSG00000261272;
opentargets: integral component of membrane [GO:0016021]
snps: rs4248153
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q04900
geneSymbol: CD164
length: 197
go: ENSG00000135535;
name:
Sialomucin core protein 24 (MUC-24) (Endolyn) (Multi-glycosylated core protein 24) (MGC-24) (MGC-24v) (CD antigen CD164)

sequence:
MSRLSRSLLWAATCLGVLCVLSADKNTTQHPNVTTLAPISNVTSAPVTSLPLVTTPAPETCEGRNSCVSCFNVSVVNTTCFWIECKDESYCSHNSTVSDCQVGNTTDFCSVSTATPVPTANSTAKPTVQPSPSTTSKTVTTSGTTNNTVTPTSQPVRKSTFDAASFIGGIVLVLGVQAVIFFLYKFCKSKERNYHTL

opentargets:
cytoplasmic vesicle [GO:0031410]; endosome [GO:0005768]; endosome membrane [GO:0010008]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; hemopoiesis [GO:0030097]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; immune response [GO:0006955]; multicellular organism development [GO:0007275]; muscle organ development [GO:0007517]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell proliferation [GO:0008285]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=CD164(E1-6); IsoId=Q04900-1; Sequence=Displayed; Name=2; IsoId=Q04900-2; Sequence=VSP_037974; Name=3; Synonyms=CD164(Delta 4); IsoId=Q04900-3; Sequence=VSP_037972; Name=4; Synonyms=CD164(Delta 5); IsoId=Q04900-4; Sequence=VSP_037973; Name=5; IsoId=Q04900-5; Sequence=VSP_038018, VSP_038019; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:11027692}; Single-pass type I membrane protein {ECO:0000269|PubMed:11027692}. Endosome membrane {ECO:0000269|PubMed:11027692}; Single-pass type I membrane protein {ECO:0000269|PubMed:11027692}. Cell membrane {ECO:0000269|PubMed:11027692, ECO:0000269|PubMed:26197441}; Single-pass type I membrane protein {ECO:0000269|PubMed:11027692}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: Q02817
geneSymbol: MUC2
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-2 (MUC-2) (Intestinal mucin-2)
length: 5179
drug: DB01411;
sequence:

opentargets:
Golgi lumen [GO:0005796]; inner mucus layer [GO:0070702]; outer mucus layer [GO:0070703]; plasma membrane [GO:0005886]; maintenance of gastrointestinal epithelium [GO:0030277]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

snps:
rs2856111 rs11825977 rs11245936 rs11245947 rs11245949 rs34493663 rs6421972 rs7480563 rs7480563 rs7126405 rs7126405 

location:
SUBCELLULAR LOCATION: Secreted. Note=In the intestine, secreted into the inner and outer mucus layers. {ECO:0000250}.


uniprotID: Q02505
geneSymbol: MUC3A
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-3A (MUC-3A) (Intestinal mucin-3A)
length: 3323
go: ENSG00000169894;
snps: rs6960868 rs10258821 rs10258821
sequence:

opentargets:
extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; extracellular matrix constituent, lubricant activity [GO:0030197]; extracellular matrix structural constituent [GO:0005201]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q02505-1; Sequence=Displayed; Name=2; IsoId=Q02505-2; Sequence=VSP_023229, VSP_023231; 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=Q02505-3; Sequence=VSP_023230, VSP_023233; Name=4; IsoId=Q02505-4; Sequence=VSP_023232, VSP_023234; Name=5; IsoId=Q02505-5; Sequence=VSP_023235; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane; Single-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000303|PubMed:10512748}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000303|PubMed:10512748}.; SUBCELLULAR LOCATION: Isoform 4: Secreted {ECO:0000303|PubMed:10512748}.; SUBCELLULAR LOCATION: Isoform 5: Secreted.


uniprotID: Q6W4X9
geneSymbol: MUC6
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-6 (MUC-6) (Gastric mucin-6)
length: 2439
go: ENSG00000184956;
snps: rs10736904 rs35549382
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; plasma membrane [GO:0005886]; extracellular matrix structural constituent [GO:0005201]; maintenance of gastrointestinal epithelium [GO:0030277]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]


uniprotID: Q9P2M1
geneSymbol: LRP2BP
name: LRP2-binding protein (Megalin-binding protein) (MegBP)
length: 347
go: ENSG00000109771;
opentargets: cytoplasm [GO:0005737]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2M1-1; Sequence=Displayed; Name=2; IsoId=Q9P2M1-2; Sequence=VSP_030664; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12508107}. Note=Detected in a vesicular staining pattern close to the plasma membrane and throughout the cytoplasm.


uniprotID: Q8TF66
geneSymbol: LRRC15
length: 581
go: ENSG00000172061;
snps: rs13060627 rs13070515
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Leucine-rich repeat-containing protein 15 (Leucine-rich repeat protein induced by beta-amyloid homolog) (hLib)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; collagen binding [GO:0005518]; fibronectin binding [GO:0001968]; laminin binding [GO:0043236]; negative regulation of protein localization to plasma membrane [GO:1903077]; positive regulation of cell migration [GO:0030335]; receptor-mediated virion attachment to host cell [GO:0046813]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TF66-1; Sequence=Displayed; Name=2; IsoId=Q8TF66-2; Sequence=VSP_041130; 


uniprotID: Q96PB8
geneSymbol: LRRC3B
pdb: 5EMA;
name: Leucine-rich repeat-containing protein 3B (Leucine-rich repeat protein LRP15)
length: 259
go: ENSG00000179796;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

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


uniprotID: Q15048
geneSymbol: LRRC14
name: Leucine-rich repeat-containing protein 14
length: 493
go: ENSG00000160959;
snps: rs3735854
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27426725}.
sequence:

opentargets:
cytoplasm [GO:0005737]; kinase binding [GO:0019900]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of toll-like receptor signaling pathway [GO:0034122]


uniprotID: Q96FV0
geneSymbol: LRRC46
name: Leucine-rich repeat-containing protein 46
length: 321
go: ENSG00000141294;
sequence:


uniprotID: Q8N1G4
geneSymbol: LRRC47
name: Leucine-rich repeat-containing protein 47
length: 583
go: ENSG00000130764;
opentargets: phenylalanine-tRNA ligase activity [GO:0004826]; RNA binding [GO:0003723]
snps: rs11547614 rs11547615
sequence:


uniprotID: Q05C16
geneSymbol: LRRC63
name: Leucine-rich repeat-containing protein 63
length: 580
snps: rs7338697 rs6561303 rs12865423 rs12865424
sequence:


uniprotID: Q9NT99
geneSymbol: LRRC4B
reactome: R-HSA-388844;
name: Leucine-rich repeat-containing protein 4B (Netrin-G3 ligand) (NGL-3)
length: 713
go: ENSG00000131409;
sequence:

opentargets:
cell junction [GO:0030054]; cerebellar mossy fiber [GO:0044300]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; signaling receptor binding [GO:0005102]; positive regulation of synapse assembly [GO:0051965]; regulation of postsynaptic density assembly [GO:0099151]; regulation of presynapse assembly [GO:1905606]; synaptic membrane adhesion [GO:0099560]

location:
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}.


uniprotID: Q8N4P6
geneSymbol: LRRC71
name: Leucine-rich repeat-containing protein 71
length: 559
go: ENSG00000160838;
snps: rs12119908 rs822431 rs11264585
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4P6-1; Sequence=Displayed; Name=2; IsoId=Q8N4P6-2; Sequence=VSP_024560, VSP_024561, VSP_024562; Note=No experimental confirmation available.; 


uniprotID: Q5JTD7
geneSymbol: LRRC73
name: Leucine-rich repeat-containing protein 73
length: 316
go: ENSG00000204052;
sequence:


uniprotID: Q8IWT6
geneSymbol: LRRC8A
reactome: R-HSA-5223345;
pdb: 5ZSU;6DJB;
length: 810
go: ENSG00000136802;
name:
Volume-regulated anion channel subunit LRRC8A (Leucine-rich repeat-containing protein 8A) (Swelling protein 1)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; ion channel complex [GO:0034702]; membrane [GO:0016020]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; volume-sensitive anion channel activity [GO:0005225]; anion transmembrane transport [GO:0098656]; anion transport [GO:0006820]; aspartate transmembrane transport [GO:0015810]; cell volume homeostasis [GO:0006884]; pre-B cell differentiation [GO:0002329]; protein hexamerization [GO:0034214]; response to osmotic stress [GO:0006970]; taurine transport [GO:0015734]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26824658, ECO:0000305|PubMed:29769723}; Multi-pass membrane protein {ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029}. Note=The leucine-rich repeat (LRR) domain is on the cytoplasmic side of the cell membrane. {ECO:0000269|PubMed:24782309}.


uniprotID: Q5VUJ6
geneSymbol: LRCH2
name: Leucine-rich repeat and calponin homology domain-containing protein 2
length: 765
go: ENSG00000130224;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VUJ6-1; Sequence=Displayed; Name=2; IsoId=Q5VUJ6-2; Sequence=VSP_044969; Note=No experimental confirmation available.; 


uniprotID: Q96II8
geneSymbol: LRCH3
name: Leucine-rich repeat and calponin homology domain-containing protein 3
length: 777
go: ENSG00000186001;
opentargets: cytosol [GO:0005829]; extracellular region [GO:0005576]
snps: rs36078463
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96II8-1; Sequence=Displayed; Name=2; IsoId=Q96II8-2; Sequence=VSP_021044; Note=No experimental confirmation available.; Name=3; IsoId=Q96II8-3; Sequence=VSP_021043; Note=No experimental confirmation available.; Name=4; IsoId=Q96II8-4; Sequence=VSP_057212, VSP_057213; Note=No experimental confirmation available.; 


uniprotID: O75427
geneSymbol: LRCH4
length: 683
go: ENSG00000077454;
opentargets: PML body [GO:0016605]; nervous system development [GO:0007399]
snps: rs3197597
name:
Leucine-rich repeat and calponin homology domain-containing protein 4 (Leucine-rich repeat neuronal protein 4) (Leucine-rich neuronal protein)

sequence:


uniprotID: Q8TDW0
geneSymbol: LRRC8C
reactome: R-HSA-5223345;
length: 803
go: ENSG00000171488;
snps: rs474536 rs12032393 rs12036569
name:
Volume-regulated anion channel subunit LRRC8C (Factor for adipocyte differentiation 158) (Leucine-rich repeat-containing protein 8C)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; ion channel complex [GO:0034702]; membrane [GO:0016020]; plasma membrane [GO:0005886]; volume-sensitive anion channel activity [GO:0005225]; anion transmembrane transport [GO:0098656]; aspartate transmembrane transport [GO:0015810]; cell volume homeostasis [GO:0006884]; cellular response to osmotic stress [GO:0071470]; fat cell differentiation [GO:0045444]; protein hexamerization [GO:0034214]; taurine transport [GO:0015734]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:28193731}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:24790029}. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum. Requires LRRC8A for expression at the cell membrane. {ECO:0000269|PubMed:24790029}.


uniprotID: Q9P244
geneSymbol: LRFN1
reactome: R-HSA-8849932;
length: 771
go: ENSG00000128011;
name:
Leucine-rich repeat and fibronectin type III domain-containing protein 1 (Synaptic adhesion-like molecule 2)

sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; regulation of postsynaptic density assembly [GO:0099151]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=Detected in excitatory, but not inhibitory, synaptic plasma membrane. {ECO:0000250}.


uniprotID: Q9ULH4
geneSymbol: LRFN2
reactome: R-HSA-8849932;
length: 789
go: ENSG00000156564;
snps: rs3734559
name:
Leucine-rich repeat and fibronectin type-III domain-containing protein 2 (Synaptic adhesion-like molecule 1)

sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; Schaffer collateral - CA1 synapse [GO:0098685]; modulation of chemical synaptic transmission [GO:0050804]; regulation of postsynapse organization [GO:0099175]

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}.


uniprotID: Q14114
geneSymbol: LRP8
reactome: R-HSA-432142;R-HSA-975634;
pdb: 3A7Q;5B4X;5B4Y;
name: Low-density lipoprotein receptor-related protein 8 (LRP-8) (Apolipoprotein E receptor 2)
length: 963
go: ENSG00000157193;
snps: rs4926972 rs3820198 rs5180 rs5181 rs5172 rs5170 rs5171 rs5172 rs5174
sequence:

opentargets:
axon [GO:0030424]; caveola [GO:0005901]; dendrite [GO:0030425]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; microtubule associated complex [GO:0005875]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; receptor complex [GO:0043235]; apolipoprotein binding [GO:0034185]; calcium ion binding [GO:0005509]; high-density lipoprotein particle binding [GO:0008035]; kinesin binding [GO:0019894]; low-density lipoprotein particle receptor activity [GO:0005041]; reelin receptor activity [GO:0038025]; transmembrane signaling receptor activity [GO:0004888]; very-low-density lipoprotein particle receptor activity [GO:0030229]; ammon gyrus development [GO:0021541]; cellular response to cholesterol [GO:0071397]; cellular response to growth factor stimulus [GO:0071363]; cerebral cortex development [GO:0021987]; cytokine-mediated signaling pathway [GO:0019221]; endocytosis [GO:0006897]; lipid metabolic process [GO:0006629]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of dendrite development [GO:1900006]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein tyrosine kinase activity [GO:0061098]; proteolysis [GO:0006508]; reelin-mediated signaling pathway [GO:0038026]; response to drug [GO:0042493]; retinoid metabolic process [GO:0001523]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist. No differences were observed in the pattern splicing between control and Alzheimer brains.; Name=1; Synonyms=ApoER2 922; IsoId=Q14114-1; Sequence=Displayed; Name=2; Synonyms=ApoER2 906; IsoId=Q14114-2; Sequence=VSP_010305, VSP_010307, VSP_010308; Name=3; IsoId=Q14114-3; Sequence=VSP_010308; Name=4; Synonyms=ApoER2delta4-7; IsoId=Q14114-4; Sequence=VSP_038181, VSP_010306; Name=5; IsoId=Q14114-5; Sequence=Not described; Note=Contains an insert in the extracellular part which carries a furin cleavage site.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Secreted {ECO:0000250}. Note=Isoforms that contain the exon coding for a furin-type cleavage site are proteolytically processed, leading to a secreted receptor fragment. {ECO:0000250}.


uniprotID: Q8ND94
geneSymbol: LRRN4CL
name: LRRN4 C-terminal-like protein
length: 238
go: ENSG00000177363;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q7Z4F1
geneSymbol: LRP10
reactome: R-HSA-975634;
name: Low-density lipoprotein receptor-related protein 10 (LRP-10)
length: 713
go: ENSG00000197324;
snps: rs2273837 rs28534929
sequence:

opentargets:
clathrin-coated pit [GO:0005905]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; low-density lipoprotein particle receptor activity [GO:0005041]; inner ear development [GO:0048839]; lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z4F1-1; Sequence=Displayed; Name=2; IsoId=Q7Z4F1-2; Sequence=VSP_009820; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Membrane, coated pit {ECO:0000250}.


uniprotID: Q9Y561
geneSymbol: LRP12
reactome: R-HSA-975634;
length: 859
go: ENSG00000147650;
snps: rs16871494
name:
Low-density lipoprotein receptor-related protein 12 (LRP-12) (Suppressor of tumorigenicity 7 protein)

sequence:

opentargets:
clathrin-coated pit [GO:0005905]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; low-density lipoprotein particle receptor activity [GO:0005041]; endocytosis [GO:0006897]; neuron migration [GO:0001764]; neuron projection development [GO:0031175]; regulation of growth [GO:0040008]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y561-1; Sequence=Displayed; Name=2; IsoId=Q9Y561-2; Sequence=VSP_040992; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12809483}; Single-pass type I membrane protein {ECO:0000269|PubMed:12809483}. Membrane, coated pit {ECO:0000269|PubMed:12809483}.


uniprotID: Q5H9M0
geneSymbol: MUM1L1
length: 696
go: ENSG00000157502;
opentargets: extracellular exosome [GO:0070062]
snps: rs12392298
name:
PWWP domain-containing protein MUM1L1 (Mutated melanoma-associated antigen 1-like protein 1) (MUM1-like protein 1)

sequence:


uniprotID: Q8ND56
geneSymbol: LSM14A
pdb: 6F9W;
length: 463
go: ENSG00000257103;
snps: rs36006556 rs2274896
name:
Protein LSM14 homolog A (Protein FAM61A) (Protein SCD6 homolog) (Putative alpha-synuclein-binding protein) (AlphaSNBP) (RNA-associated protein 55A) (hRAP55) (hRAP55A)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; P-body [GO:0000932]; double-stranded DNA binding [GO:0003690]; double-stranded RNA binding [GO:0003725]; RNA binding [GO:0003723]; single-stranded RNA binding [GO:0003727]; cytoplasmic mRNA processing body assembly [GO:0033962]; multicellular organism development [GO:0007275]; positive regulation of type I interferon-mediated signaling pathway [GO:0060340]; regulation of translation [GO:0006417]; RIG-I signaling pathway [GO:0039529]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=AlphaSNBP(A); IsoId=Q8ND56-1; Sequence=Displayed; Name=2; Synonyms=AlphaSNBP(B); IsoId=Q8ND56-2; Sequence=VSP_014650; Name=3; IsoId=Q8ND56-3; Sequence=VSP_057232; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16484376, ECO:0000269|PubMed:17074753}. Cytoplasm, Stress granule {ECO:0000269|PubMed:16484376}.


uniprotID: Q5S007
geneSymbol: LRRK2
reactome: R-HSA-8857538;
pdb: 2ZEJ;3D6T;5MY9;5MYC;
name: Leucine-rich repeat serine/threonine-protein kinase 2 (EC 2.7.11.1) (Dardarin)
length: 2527
go: ENSG00000188906;
sequence:

opentargets:
amphisome [GO:0044753]; autolysosome [GO:0044754]; axon [GO:0030424]; caveola neck [GO:0099400]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoplasmic side of mitochondrial outer membrane [GO:0032473]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendrite cytoplasm [GO:0032839]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum exit site [GO:0070971]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; Golgi-associated vesicle [GO:0005798]; growth cone [GO:0030426]; inclusion body [GO:0016234]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; membrane raft [GO:0045121]; microvillus [GO:0005902]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; multivesicular body, internal vesicle [GO:0097487]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; presynaptic cytosol [GO:0099523]; ribonucleoprotein complex [GO:1990904]; synaptic vesicle membrane [GO:0030672]; terminal bouton [GO:0043195]; trans-Golgi network [GO:0005802]; Wnt signalosome [GO:1990909]; actin binding [GO:0003779]; ATP binding [GO:0005524]; beta-catenin destruction complex binding [GO:1904713]; clathrin binding [GO:0030276]; co-receptor binding [GO:0039706]; GTP binding [GO:0005525]; GTP-dependent protein kinase activity [GO:0034211]; GTPase activator activity [GO:0005096]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; kinase activity [GO:0016301]; MAP kinase kinase activity [GO:0004708]; microtubule binding [GO:0008017]; peroxidase inhibitor activity [GO:0036479]; protein homodimerization activity [GO:0042803]; protein kinase A binding [GO:0051018]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; receptor signaling complex scaffold activity [GO:0030159]; Rho GTPase binding [GO:0017048]; SNARE binding [GO:0000149]; syntaxin-1 binding [GO:0017075]; tubulin binding [GO:0015631]; activation of MAPK activity [GO:0000187]; activation of MAPKK activity [GO:0000186]; autophagy [GO:0006914]; calcium-mediated signaling [GO:0019722]; canonical Wnt signaling pathway [GO:0060070]; cellular protein localization [GO:0034613]; cellular response to dopamine [GO:1903351]; cellular response to manganese ion [GO:0071287]; cellular response to oxidative stress [GO:0034599]; cellular response to starvation [GO:0009267]; determination of adult lifespan [GO:0008340]; endocytosis [GO:0006897]; excitatory postsynaptic potential [GO:0060079]; exploration behavior [GO:0035640]; Golgi organization [GO:0007030]; GTP metabolic process [GO:0046039]; intracellular distribution of mitochondria [GO:0048312]; intracellular signal transduction [GO:0035556]; locomotory exploration behavior [GO:0035641]; lysosome organization [GO:0007040]; MAPK cascade [GO:0000165]; mitochondrion localization [GO:0051646]; mitochondrion organization [GO:0007005]; negative regulation of autophagosome assembly [GO:1902902]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of excitatory postsynaptic potential [GO:0090394]; negative regulation of GTPase activity [GO:0034260]; negative regulation of hydrogen peroxide-induced cell death [GO:1903206]; negative regulation of late endosome to lysosome transport [GO:1902823]; negative regulation of macroautophagy [GO:0016242]; negative regulation of neuron death [GO:1901215]; negative regulation of neuron projection development [GO:0010977]; negative regulation of protein binding [GO:0032091]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein processing [GO:0010955]; negative regulation of protein processing involved in protein targeting to mitochondrion [GO:1903217]; negative regulation of protein targeting to mitochondrion [GO:1903215]; negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation [GO:1903125]; neuromuscular junction development [GO:0007528]; neuron death [GO:0070997]; neuron projection arborization [GO:0140058]; neuron projection morphogenesis [GO:0048812]; olfactory bulb development [GO:0021772]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; phosphorylation [GO:0016310]; positive regulation of autophagy [GO:0010508]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of dopamine receptor signaling pathway [GO:0060161]; positive regulation of histone deacetylase activity [GO:1901727]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of microglial cell activation [GO:1903980]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; positive regulation of programmed cell death [GO:0043068]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein autoubiquitination [GO:1902499]; positive regulation of protein binding [GO:0032092]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of synaptic vesicle endocytosis [GO:1900244]; positive regulation of tumor necrosis factor secretion [GO:1904469]; protein autophosphorylation [GO:0046777]; protein localization to endoplasmic reticulum exit site [GO:0070973]; protein localization to mitochondrion [GO:0070585]; protein phosphorylation [GO:0006468]; reactive oxygen species metabolic process [GO:0072593]; regulation of autophagy [GO:0010506]; regulation of branching morphogenesis of a nerve [GO:2000172]; regulation of CAMKK-AMPK signaling cascade [GO:1905289]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of dopamine receptor signaling pathway [GO:0060159]; regulation of ER to Golgi vesicle-mediated transport [GO:0060628]; regulation of kidney size [GO:0035564]; regulation of locomotion [GO:0040012]; regulation of lysosomal lumen pH [GO:0035751]; regulation of membrane potential [GO:0042391]; regulation of mitochondrial depolarization [GO:0051900]; regulation of mitochondrial fission [GO:0090140]; regulation of neuroblast proliferation [GO:1902692]; regulation of neuron death [GO:1901214]; regulation of neuron maturation [GO:0014041]; regulation of protein kinase A signaling [GO:0010738]; regulation of retrograde transport, endosome to Golgi [GO:1905279]; regulation of synaptic transmission, glutamatergic [GO:0051966]; regulation of synaptic vesicle exocytosis [GO:2000300]; regulation of synaptic vesicle transport [GO:1902803]; response to oxidative stress [GO:0006979]; spermatogenesis [GO:0007283]; striatum development [GO:0021756]; tangential migration from the subventricular zone to the olfactory bulb [GO:0022028]; Wnt signalosome assembly [GO:1904887]

snps:
rs2256408 rs33995463 rs56108242 rs34594498 rs7308720 rs199566791 rs281865043 rs10878307 rs34410987 rs35173587 rs281865044 rs281865045 rs17519916 rs111341148 rs76535406 rs34805604 rs60185966 rs4640000 rs17466213 rs28365226 rs7133914 rs33939927 rs33939927 rs34995376 rs35507033 rs33958906 rs200212150 rs721710 rs33949390 rs35303786 rs11564148 rs35801418 rs145364431 rs145364431 rs35602796 rs281865053 rs77428810 rs34015634 rs34637584 rs35870237 rs33995883 rs12423862 rs111691891 rs201271001 rs12581902 rs113511708 rs34778348 rs78964014 rs3761863 rs281865057 

location:
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cytoplasm. Perikaryon. Mitochondrion. Golgi apparatus. Cell projection, axon. Cell projection, dendrite. Endoplasmic reticulum {ECO:0000269|PubMed:25201882}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:24687852}; Peripheral membrane protein {ECO:0000269|PubMed:24687852}; Cytoplasmic side {ECO:0000269|PubMed:24687852}. Endosome {ECO:0000250}. Lysosome {ECO:0000250}. Mitochondrion outer membrane {ECO:0000250}. Mitochondrion inner membrane {ECO:0000250}. Mitochondrion matrix {ECO:0000250}. Note=Predominantly associated with intracytoplasmic vesicular and membranous structures (By similarity). Localized in the cytoplasm and associated with cellular membrane structures. Predominantly associated with the mitochondrial outer membrane of the mitochondria. Colocalized with RAB29 along tubular structures emerging from Golgi apparatus. Localizes in intracytoplasmic punctate structures of neuronal perikarya and dendritic and axonal processes. Localizes to endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:25201882). {ECO:0000250|UniProtKB:Q5S006, ECO:0000269|PubMed:25201882}.


uniprotID: Q86VH5
geneSymbol: LRRTM3
reactome: R-HSA-6794361;
name: Leucine-rich repeat transmembrane neuronal protein 3
length: 581
go: ENSG00000198739;
sequence:

opentargets:
cell junction [GO:0030054]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; positive regulation of amyloid-beta formation [GO:1902004]; positive regulation of synapse assembly [GO:0051965]; presynapse assembly [GO:0099054]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VH5-1; Sequence=Displayed; Name=2; IsoId=Q86VH5-2; Sequence=VSP_014189, VSP_014190; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: P22888
geneSymbol: LHCGR
reactome: R-HSA-375281;R-HSA-418555;
pdb: 1LUT;1XUL;
name: Lutropin-choriogonadotropic hormone receptor (LH/CG-R) (Luteinizing hormone receptor) (LHR) (LSH-R)
length: 699
go: ENSG00000138039;
drug: DB06719;DB00050;DB09126;DB00097;DB00014;DB00044;DB00032;
sequence:

opentargets:
endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; choriogonadotropin hormone binding [GO:0038106]; choriogonadotropin hormone receptor activity [GO:0035472]; G protein-coupled peptide receptor activity [GO:0008528]; luteinizing hormone receptor activity [GO:0004964]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cellular response to gonadotropin stimulus [GO:0071371]; cellular response to luteinizing hormone stimulus [GO:0071373]; cognition [GO:0050890]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; hormone-mediated signaling pathway [GO:0009755]; luteinizing hormone signaling pathway [GO:0042700]; male genitalia development [GO:0030539]; male gonad development [GO:0008584]; ovulation cycle process [GO:0022602]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of adenylate cyclase activity [GO:0045762]; positive regulation of inositol trisphosphate biosynthetic process [GO:0032962]

snps:
rs121912527 rs121912539 rs12470652 rs2293275 rs121912536 rs121912529 rs121912533 rs121912528 rs121912526 rs121912535 rs121912538 rs121912531 rs121912537 rs121912540 rs121912534 rs121912519 rs121912522 rs121912521 rs121912518 rs121912532 rs121912532 rs121912520 rs121912525 rs121912530 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=Long; IsoId=P22888-1; Sequence=Displayed; Name=Short; IsoId=P22888-2; Sequence=VSP_001962; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11847099}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: O43261
geneSymbol: DLEU1
sequence: MRPCIWIHVHLKPPCRLVELLPFSSALQGLSHLSLGTTLPVILPERNEEQNLQELSHNADKYQMGDCCKEEIDDSIFY
length: 78
name:
Leukemia-associated protein 1 (Deleted in lymphocytic leukemia 1) (HBV X-transactivated gene 6 protein) (HBV XAg-transactivated protein 6)


uniprotID: Q9HAP6
geneSymbol: LIN7B
reactome: R-HSA-212676;R-HSA-5666185;R-HSA-6794361;
pdb: 2DKR;
length: 207
go: ENSG00000104863;
name:
Protein lin-7 homolog B (Lin-7B) (hLin7B) (Mammalian lin-seven protein 2) (MALS-2) (Vertebrate lin-7 homolog 2) (Veli-2) (hVeli2)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell-cell junction [GO:0005911]; 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]; PDZ domain binding [GO:0030165]; protein domain specific binding [GO:0019904]; exocytosis [GO:0006887]; neurotransmitter secretion [GO:0007269]; protein localization to basolateral plasma membrane [GO:1903361]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HAP6-1; Sequence=Displayed; Name=2; IsoId=Q9HAP6-2; Sequence=VSP_042156; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Basolateral cell membrane; Peripheral membrane protein. 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: P53667
geneSymbol: LIMK1
reactome: R-HSA-2029482;R-HSA-3928662;R-HSA-399954;R-HSA-416572;R-HSA-5627117;R-HSA-5627123;
pdb: 3S95;5HVJ;5HVK;5L6W;5NXC;
name: LIM domain kinase 1 (LIMK-1) (EC 2.7.11.1)
length: 647
go: ENSG00000106683;
drug: DB08912;
snps: rs35827364 rs55661242 rs55679316 rs178412
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; membrane [GO:0016020]; neuron projection [GO:0043005]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; ATP binding [GO:0005524]; heat shock protein binding [GO:0031072]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton organization [GO:0030036]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; negative regulation of ubiquitin-protein transferase activity [GO:0051444]; nervous system development [GO:0007399]; positive regulation of actin filament bundle assembly [GO:0032233]; positive regulation of axon extension [GO:0045773]; positive regulation of stress fiber assembly [GO:0051496]; protein phosphorylation [GO:0006468]; Rho protein signal transduction [GO:0007266]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P53667-1; Sequence=Displayed; Name=2; IsoId=P53667-2; Sequence=VSP_003125; Name=3; IsoId=P53667-3; Sequence=VSP_003126, VSP_003127; Note=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=P53667-4; Sequence=VSP_043331; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell projection, lamellipodium {ECO:0000250|UniProtKB:P53668}. Note=Predominantly found in the cytoplasm. Localizes in the lamellipodium in a CDC42BPA, CDC42BPB and FAM89B/LRAP25-dependent manner. {ECO:0000250|UniProtKB:P53668}.


uniprotID: Q9BT17
geneSymbol: MTG1
name: Mitochondrial ribosome-associated GTPase 1 (GTP-binding protein 7) (Mitochondrial GTPase 1)
length: 334
go: ENSG00000148824;
snps: rs2255246
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial ribosome [GO:0005761]; mitochondrion [GO:0005739]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; regulation of mitochondrial translation [GO:0070129]; regulation of respiratory system process [GO:0044065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BT17-1; Sequence=Displayed; Name=2; IsoId=Q9BT17-2; Sequence=VSP_023581, VSP_023582; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:12808030, ECO:0000269|PubMed:23396448}; Peripheral membrane protein {ECO:0000269|PubMed:12808030, ECO:0000269|PubMed:23396448}; Matrix side {ECO:0000269|PubMed:12808030, ECO:0000269|PubMed:23396448}.


uniprotID: Q0VAK6
geneSymbol: LMOD3
name: Leiomodin-3 (Leiomodin, fetal form)
length: 560
go: ENSG00000163380;
snps: rs35740823 rs9835034 rs6810145 rs17005363
sequence:

opentargets:
cytoplasm [GO:0005737]; M band [GO:0031430]; myofibril [GO:0030016]; striated muscle thin filament [GO:0005865]; actin monomer binding [GO:0003785]; 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 skeletal muscle fiber development [GO:0048743]; skeletal muscle fiber development [GO:0048741]; skeletal muscle thin filament assembly [GO:0030240]; striated muscle contraction [GO:0006941]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0VAK6-1; Sequence=Displayed; Name=2; IsoId=Q0VAK6-2; Sequence=VSP_021664, VSP_021665, VSP_021666, VSP_021667; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25250574}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000269|PubMed:25250574}. Cytoplasm, myofibril, sarcomere, A band {ECO:0000250|UniProtKB:E9QA62}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:25250574}. Note=Highly expressed in nonstriated areas of developing myotubes, where it shows a granular cytoplasmic pattern. In sarcomeres, highly expressed in the M band region and, at lower levels, along actin thin filaments. Not detected in Z-disks. In sarcomeres, may be located near, but not at, actin thin filament pointed end. {ECO:0000269|PubMed:25250574}.


uniprotID: Q96S06
geneSymbol: LMF1
reactome: R-HSA-8963889;
name: Lipase maturation factor 1 (Transmembrane protein 112)
length: 567
go: ENSG00000103227;
snps: rs35663121 rs11540337 rs35168378 rs4984948
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; chylomicron remnant clearance [GO:0034382]; ER to Golgi vesicle-mediated transport [GO:0006888]; positive regulation of lipoprotein lipase activity [GO:0051006]; protein glycosylation in Golgi [GO:0033578]; protein maturation [GO:0051604]; protein secretion [GO:0009306]; regulation of cholesterol metabolic process [GO:0090181]; regulation of lipoprotein lipase activity [GO:0051004]; regulation of triglyceride metabolic process [GO:0090207]; triglyceride metabolic process [GO:0006641]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96S06-1; Sequence=Displayed; Name=2; IsoId=Q96S06-2; Sequence=VSP_057388; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19783858, ECO:0000269|PubMed:24909692}; Multi-pass membrane protein {ECO:0000269|PubMed:19783858, ECO:0000269|PubMed:24909692}.


uniprotID: Q9BU23
geneSymbol: LMF2
reactome: R-HSA-8963889;
name: Lipase maturation factor 2 (Transmembrane protein 112B) (Transmembrane protein 153)
length: 707
go: ENSG00000100258;
snps: rs376748648 rs8136495
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; protein maturation [GO:0051604]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BU23-1; Sequence=Displayed; Name=2; IsoId=Q9BU23-2; Sequence=VSP_032254; Name=3; IsoId=Q9BU23-3; Sequence=VSP_032255; Note=No experimental confirmation available.; 


uniprotID: Q8N448
geneSymbol: LNX2
pdb: 2VWR;5DIN;5E11;5E1Y;5E21;5E22;
name: Ligand of Numb protein X 2 (Numb-binding protein 2) (PDZ domain-containing RING finger protein 1)
length: 690
go: ENSG00000139517;
opentargets: metal ion binding [GO:0046872]
snps: rs8002697
sequence:


uniprotID: Q86WA8
geneSymbol: LONP2
reactome: R-HSA-390471;R-HSA-9033241;
length: 852
go: ENSG00000102910;
name:
Lon protease homolog 2, peroxisomal (EC 3.4.21.53) (Lon protease-like protein 2) (Lon protease 2) (Peroxisomal Lon protease) (pLon)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; ATP binding [GO:0005524]; ATP-dependent peptidase activity [GO:0004176]; enzyme binding [GO:0019899]; peptidase activity [GO:0008233]; protease binding [GO:0002020]; serine-type endopeptidase activity [GO:0004252]; signaling receptor binding [GO:0005102]; peroxisome organization [GO:0007031]; protein import into peroxisome matrix [GO:0016558]; protein processing [GO:0016485]; protein quality control for misfolded or incompletely synthesized proteins [GO:0006515]; protein targeting to peroxisome [GO:0006625]; regulation of fatty acid beta-oxidation [GO:0031998]; response to organic cyclic compound [GO:0014070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86WA8-1; Sequence=Displayed; Name=2; IsoId=Q86WA8-2; Sequence=VSP_056190; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Peroxisome matrix {ECO:0000255|HAMAP-Rule:MF_03121, ECO:0000269|PubMed:14561759, ECO:0000269|PubMed:18281296, ECO:0000269|PubMed:22002062}.


uniprotID: Q9UN81
geneSymbol: L1RE1
pdb: 2LDY;2W7A;2YKO;2YKP;2YKQ;6FIA;
length: 338
name:
LINE-1 retrotransposable element ORF1 protein (L1ORF1p) (LINE retrotransposable element 1) (LINE1 retrotransposable element 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoplasmic stress granule [GO:0010494]; nucleolus [GO:0005730]; ribonucleoprotein complex [GO:1990904]; identical protein binding [GO:0042802]; nucleotide binding [GO:0000166]; single-stranded DNA binding [GO:0003697]; single-stranded RNA binding [GO:0003727]; transposition, RNA-mediated [GO:0032197]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:17562864}. Cytoplasm, Cytoplasmic ribonucleoprotein granule {ECO:0000269|PubMed:16183655}. Cytoplasm, Stress granule {ECO:0000269|PubMed:17562864}. Note=Colocalizes with its encoding RNA in cytoplasmic ribonucleoprotein particle (PubMed:16183655). Mainly cytoplasmic, rarely detected in the nucleus, possibly within the nucleolus (PubMed:17562864). {ECO:0000269|PubMed:16183655, ECO:0000269|PubMed:17562864}.


uniprotID: Q16609
geneSymbol: LPAL2
length: 132
opentargets: extracellular region [GO:0005576]; serine-type endopeptidase activity [GO:0004252]
snps: rs7749199
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Putative apolipoprotein(a)-like protein 2 (Apo(a)-like protein 2) (Lp(a)-liker protein 2) (Apolipoprotein a-related gene C protein) (Apo(a)rg-C)

sequence:
MEHKEVVLLLLLFLKSAPTETGPSVQECYHSNGQSYRGTYFTTVTGRTCQAWSSMTPHQHSRTPEKYPNDGLISNYCRNPDCSAGPWCYTTDPNVRWEYCNLTRCSDDEGTVFVPLTVIPVPSLEDSFIQVA


uniprotID: P42704
geneSymbol: LRPPRC
reactome: R-HSA-5628897;R-HSA-611105;
length: 1394
go: ENSG00000138095;
snps: rs119466000 rs35035668
name:
Leucine-rich PPR motif-containing protein, mitochondrial (130 kDa leucine-rich protein) (LRP 130) (GP130)

sequence:

opentargets:
condensed nuclear chromosome [GO:0000794]; cytoskeleton [GO:0005856]; membrane [GO:0016020]; microtubule [GO:0005874]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nuclear inner membrane [GO:0005637]; nuclear outer membrane [GO:0005640]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ribonucleoprotein complex [GO:1990904]; beta-tubulin binding [GO:0048487]; microtubule binding [GO:0008017]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; ubiquitin protein ligase binding [GO:0031625]; mitochondrion transport along microtubule [GO:0047497]; mRNA transport [GO:0051028]; negative regulation of mitochondrial RNA catabolic process [GO:0000961]; regulation of mitochondrial translation [GO:0070129]

location:
SUBCELLULAR LOCATION: Mitochondrion. Nucleus, nucleoplasm. Nucleus inner membrane. Nucleus outer membrane. Note=Seems to be predominantly mitochondrial.


uniprotID: P55157
geneSymbol: MTTP
reactome: R-HSA-8866423;R-HSA-8963888;
name: Microsomal triglyceride transfer protein large subunit
length: 894
go: ENSG00000138823;
drug: DB01094;DB04852;DB08827;
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; Golgi apparatus [GO:0005794]; receptor complex [GO:0043235]; lipid binding [GO:0008289]; lipid transporter activity [GO:0005319]; phospholipid transporter activity [GO:0005548]; protein heterodimerization activity [GO:0046982]; cholesterol homeostasis [GO:0042632]; chylomicron assembly [GO:0034378]; lipid metabolic process [GO:0006629]; lipoprotein metabolic process [GO:0042157]; phospholipid transport [GO:0015914]; plasma lipoprotein particle assembly [GO:0034377]; protein secretion [GO:0009306]; triglyceride transport [GO:0034197]; very-low-density lipoprotein particle assembly [GO:0034379]

snps:
rs61733139 rs2306986 rs3816873 rs3792683 rs61750974 rs17599091 rs2306985 rs17029215 rs372321643 rs199422220 rs199422222 rs767833468 rs199422221 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55157-1; Sequence=Displayed; Name=2; IsoId=P55157-2; Sequence=VSP_056325, VSP_056326; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:22236406, ECO:0000269|PubMed:23475612, ECO:0000269|PubMed:26224785}. Note=Colocalizes with P4HB/PDI in the endoplasmic reticulum (PubMed:23475612, PubMed:26224785). {ECO:0000269|PubMed:23475612, ECO:0000269|PubMed:26224785}.


uniprotID: Q68G75
geneSymbol: LEMD1
name: LEM domain-containing protein 1 (Cancer/testis antigen 50) (CT50) (LEM domain protein 1) (LEMP-1)
length: 181
go: ENSG00000186007;
opentargets: integral component of membrane [GO:0016021]
snps: rs7531012
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MVDVKCLSDCKLQNQLEKLGFSPGPILPSTRKLYEKKLVQLLVSPPCAPPVMNGPRELDGAQDSDDSEELNIILQGNIILSTEKSKKLKKWPEASTTKRKAVDTYCLDYKPSKGRRWAARAPSTRITYGTITKERDYCAEDQTIESWREEGFPVGLKLAVLGIFIIVVFVYLTVENKSLFG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=LEMD1A; IsoId=Q68G75-1; Sequence=Displayed; Name=2; Synonyms=LEMD1B; IsoId=Q68G75-2; Sequence=VSP_024848, VSP_024849; Note=No experimental confirmation available.; Name=3; Synonyms=LEMD1C; IsoId=Q68G75-3; Sequence=VSP_024846; Note=No experimental confirmation available.; Name=4; Synonyms=LEMD1D; IsoId=Q68G75-4; Sequence=VSP_024852, VSP_024853; Note=No experimental confirmation available.; Name=5; Synonyms=LEMD1E; IsoId=Q68G75-5; Sequence=VSP_024851, VSP_024854; Note=No experimental confirmation available.; Name=6; Synonyms=LEMD1F; IsoId=Q68G75-6; Sequence=VSP_024847, VSP_024850; Note=Found at the nuclear membrane. No experimental confirmation available.; 


uniprotID: O14633
geneSymbol: LCE2B
reactome: R-HSA-6809371;
length: 110
go: ENSG00000159455;
snps: rs3737859 rs28391399
name:
Late cornified envelope protein 2B (Late envelope protein 10) (Skin-specific protein Xp5) (Small proline-rich-like epidermal differentiation complex protein 1B)

sequence:
MSCQQNQQQCQPPPKCPPKCTPKCPPKCPPKCLPQCPAPCSPAVSSCCGPISGGCCGPSSGGCCNSGAGGCCLSHHRPRLFHRRRHQSPDCCESEPSGGSGCCHSSGGCC

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; structural molecule activity [GO:0005198]; epidermis development [GO:0008544]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: O95214
geneSymbol: LEPROTL1
name: Leptin receptor overlapping transcript-like 1 (Endospanin-2)
length: 131
go: ENSG00000104660;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MAGIKALISLSFGGAIGLMFLMLGCALPIYNKYWPLFVLFFYILSPIPYCIARRLVDDTDAMSNACKELAIFLTTGIVVSAFGLPIVFARAHLIEWGACALVLTGNTVIFATILGFFLVFGSNDDFSWQQW

opentargets:
endosome [GO:0005768]; integral component of membrane [GO:0016021]; late endosome to vacuole transport via multivesicular body sorting pathway [GO:0032511]; negative regulation of protein localization to cell surface [GO:2000009]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95214-1; Sequence=Displayed; Name=2; IsoId=O95214-2; Sequence=VSP_046307; Note=No experimental confirmation available.; 


uniprotID: Q9HC24
geneSymbol: TMBIM4
length: 238
go: ENSG00000155957;
snps: rs11176070 rs8793
name:
Protein lifeguard 4 (Golgi anti-apoptotic protein) (Protein S1R) (Transmembrane BAX inhibitor motif-containing protein 4) (Z-protein)

sequence:

opentargets:
Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; integral component of membrane [GO:0016021]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; regulation of calcium-mediated signaling [GO:0050848]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:17319741, ECO:0000269|PubMed:22418439}; Multi-pass membrane protein {ECO:0000269|PubMed:17319741, ECO:0000269|PubMed:22418439}.


uniprotID: Q8N0V4
geneSymbol: LGI2
reactome: R-HSA-5682910;
length: 545
go: ENSG00000153012;
opentargets: extracellular region [GO:0005576]
snps: rs2232026 rs2232027
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Leucine-rich repeat LGI family member 2 (LGI1-like protein 2) (Leucine-rich glioma-inactivated protein 2)

sequence:


uniprotID: Q8TBB1
geneSymbol: LNX1
reactome: R-HSA-983168;
pdb: 3B76;5H7R;5H7S;
length: 728
go: ENSG00000072201;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
E3 ubiquitin-protein ligase LNX (EC 2.3.2.27) (Ligand of Numb-protein X 1) (Numb-binding protein 1) (PDZ domain-containing RING finger protein 2) (RING-type E3 ubiquitin transferase LNX)

sequence:

opentargets:
cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; PDZ domain binding [GO:0030165]; ubiquitin-protein transferase activity [GO:0004842]; protein homooligomerization [GO:0051260]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBB1-1; Sequence=Displayed; Name=2; IsoId=Q8TBB1-2; Sequence=VSP_005733; 


uniprotID: P18054
geneSymbol: ALOX12
reactome: R-HSA-2142696;R-HSA-2142700;R-HSA-2142712;R-HSA-9018677;R-HSA-9025106;R-HSA-9026290;
pdb: 2ABU;3D3L;
length: 663
go: ENSG00000108839;
snps: rs4987104 rs1126667 rs434473 rs11571342
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol. Membrane. Note=Membrane association is stimulated by EGF.
name:
Arachidonate 12-lipoxygenase, 12S-type (12S-LOX) (12S-lipoxygenase) (EC 1.13.11.31) (Lipoxin synthase 12-LO) (EC 3.3.2.-) (Platelet-type lipoxygenase 12)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; sarcolemma [GO:0042383]; arachidonate 12-lipoxygenase activity [GO:0004052]; hepoxilin A3 synthase activity [GO:0051120]; hepoxilin-epoxide hydrolase activity [GO:0047977]; iron ion binding [GO:0005506]; linoleate 13S-lipoxygenase activity [GO:0016165]; 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]; establishment of skin barrier [GO:0061436]; fatty acid oxidation [GO:0019395]; hepoxilin biosynthetic process [GO:0051122]; hepoxilin metabolic process [GO:0051121]; leukotriene A4 metabolic process [GO:1901751]; linoleic acid metabolic process [GO:0043651]; lipoxin A4 biosynthetic process [GO:2001303]; lipoxin B4 biosynthetic process [GO:2001306]; lipoxin biosynthetic process [GO:2001301]; lipoxygenase pathway [GO:0019372]; long-chain fatty acid biosynthetic process [GO:0042759]; negative regulation of muscle cell apoptotic process [GO:0010656]; negative regulation of platelet aggregation [GO:0090331]; superoxide anion generation [GO:0042554]


uniprotID: Q08397
geneSymbol: LOXL1
reactome: R-HSA-1566948;R-HSA-2243919;
name: Lysyl oxidase homolog 1 (EC 1.4.3.-) (Lysyl oxidase-like protein 1) (LOL)
length: 574
go: ENSG00000129038;
snps: rs1048661 rs3825942
location: SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000305}.
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; copper ion binding [GO:0005507]; protein-lysine 6-oxidase activity [GO:0004720]; aorta development [GO:0035904]; oxidation-reduction process [GO:0055114]; peptidyl-lysine oxidation [GO:0018057]; protein deamination [GO:0018277]; response to lipopolysaccharide [GO:0032496]


uniprotID: P43657
geneSymbol: LPAR6
reactome: R-HSA-416476;R-HSA-417957;
length: 344
go: ENSG00000139679;
snps: rs1060585 rs879255262 rs4151553 rs121434307 rs121434309 rs17071686
name:
Lysophosphatidic acid receptor 6 (LPA receptor 6) (LPA-6) (Oleoyl-L-alpha-lysophosphatidic acid receptor) (P2Y purinoceptor 5) (P2Y5) (Purinergic receptor 5) (RB intron encoded G-protein coupled receptor)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; blastocyst hatching [GO:0001835]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of Rho protein signal transduction [GO:0035025]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18297070}; Multi-pass membrane protein {ECO:0000269|PubMed:18297070}.


uniprotID: Q8NI32
geneSymbol: LYPD6B
reactome: R-HSA-163125;
name: Ly6/PLAUR domain-containing protein 6B
length: 183
go: ENSG00000150556;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.
sequence:
MLYKSSDRPAHKVSMLLLCHALAIAVVQIVIFSESWAFAKNINFYNVRPPLDPTPFPNSFKCFTCENAGDNYNCNRWAEDKWCPQNTQYCLTVHHFTSHGRSTSITKKCASRSECHFVGCHHSRDSEHTECRSCCEGMICNVELPTNHTNAVFAVMHAQRTSGSSAPTLYLPVLAWVFVLPLL

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; acetylcholine receptor regulator activity [GO:0030548]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NI32-1; Sequence=Displayed; Name=2; IsoId=Q8NI32-2; Sequence=VSP_031842; Note=No experimental confirmation available.; 


uniprotID: Q92539
geneSymbol: LPIN2
reactome: R-HSA-1483191;R-HSA-1483213;R-HSA-4419969;R-HSA-75109;
name: Phosphatidate phosphatase LPIN2 (EC 3.1.3.4) (Lipin-2)
length: 896
go: ENSG00000101577;
snps: rs80338807
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; nucleus [GO:0005634]; phosphatidate phosphatase activity [GO:0008195]; transcription coactivator activity [GO:0003713]; fatty acid catabolic process [GO:0009062]; lipid metabolic process [GO:0006629]; 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]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}. Note=Translocates to endoplasmic reticulum membrane with increasing levels of oleate. {ECO:0000250}.


uniprotID: P09917
geneSymbol: ALOX5
pdb: 2ABV;3O8Y;3V92;3V98;3V99;
name: Arachidonate 5-lipoxygenase (5-LO) (5-lipoxygenase) (EC 1.13.11.34)
length: 674
go: ENSG00000012779;
snps: rs2228065
reactome:
R-HSA-2142688;R-HSA-2142691;R-HSA-2142700;R-HSA-6785807;R-HSA-6798695;R-HSA-9012546;R-HSA-9018676;R-HSA-9018682;R-HSA-9018896;R-HSA-9020265;R-HSA-9023661;R-HSA-9026286;R-HSA-9026290;R-HSA-9026403;R-HSA-9027604;

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; nuclear envelope [GO:0005635]; nuclear envelope lumen [GO:0005641]; nuclear matrix [GO:0016363]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; secretory granule lumen [GO:0034774]; arachidonate 5-lipoxygenase activity [GO:0004051]; iron ion binding [GO:0005506]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-18-mediated signaling pathway [GO:0035655]; leukotriene biosynthetic process [GO:0019370]; leukotriene metabolic process [GO:0006691]; leukotriene production involved in inflammatory response [GO:0002540]; lipoxygenase pathway [GO:0019372]; long-chain fatty acid biosynthetic process [GO:0042759]; neutrophil degranulation [GO:0043312]

drug:
DB00233;DB01014;DB00586;DB00711;DB01892;DB04725;DB00179;DB00939;DB00244;DB01017;DB05431;DB00471;DB00795;DB00163;DB00744;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P09917-1; Sequence=Displayed; Name=2; Synonyms=Delta-13; IsoId=P09917-2; Sequence=VSP_046998; Name=3; Synonyms=delta-p10; IsoId=P09917-3; Sequence=VSP_053534; Name=4; Synonyms=delta-10-13; IsoId=P09917-4; Sequence=VSP_053535, VSP_053537; Name=5; Synonyms=alpha-10; IsoId=P09917-5; Sequence=VSP_053536; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus matrix. Nucleus membrane; Peripheral membrane protein. Note=Shuttles between cytoplasm and nucleus. Found exclusively in the nucleus, when phosphorylated on Ser-272. Calcium binding promotes translocation from the cytosol and the nuclear matrix to the nuclear envelope and membrane association.


uniprotID: Q9Y2Z2
geneSymbol: MTO1
reactome: R-HSA-6787450;
name: Protein MTO1 homolog, mitochondrial
length: 717
go: ENSG00000135297;
snps: rs143747297
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
sequence:

opentargets:
mitochondrion [GO:0005739]; flavin adenine dinucleotide binding [GO:0050660]; RNA binding [GO:0003723]; mitochondrial tRNA wobble uridine modification [GO:0070899]; tRNA methylation [GO:0030488]; tRNA wobble uridine modification [GO:0002098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=3; Synonyms=4; IsoId=Q9Y2Z2-1; Sequence=Displayed; Name=1; IsoId=Q9Y2Z2-2; Sequence=VSP_001749, VSP_001751; Name=2; IsoId=Q9Y2Z2-3; Sequence=VSP_001750; Name=5; IsoId=Q9Y2Z2-4; Sequence=VSP_001751; Name=6; IsoId=Q9Y2Z2-5; Sequence=VSP_001748; Note=No experimental confirmation available.; Name=7; IsoId=Q9Y2Z2-6; Sequence=VSP_040985, VSP_040986; 


uniprotID: P49286
geneSymbol: MTNR1B
reactome: R-HSA-373076;R-HSA-418594;
name: Melatonin receptor type 1B (Mel-1B-R) (Mel1b receptor)
length: 362
go: ENSG00000134640;
drug: DB06594;DB01065;DB00980;DB09071;DB05359;
snps: rs8192552 rs370338802 rs8192553
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; melatonin receptor activity [GO:0008502]; camera-type eye development [GO:0043010]; 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]; glucose homeostasis [GO:0042593]; negative regulation of cGMP-mediated signaling [GO:0010754]; negative regulation of cytosolic calcium ion concentration [GO:0051481]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; negative regulation of insulin secretion [GO:0046676]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transmission of nerve impulse [GO:0051970]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of circadian sleep/wake cycle, non-REM sleep [GO:0046010]; positive regulation of transmission of nerve impulse [GO:0051971]; regulation of insulin secretion [GO:0050796]; regulation of neuronal action potential [GO:0098908]


uniprotID: Q6ZST4
geneSymbol: LCNL1
name: Lipocalin-like 1 protein
length: 164
go: ENSG00000214402;
opentargets: small molecule binding [GO:0036094]
snps: rs17578859
sequence:
MVGVVSDDQDFLDSKDTMKMAVVLVTPLGNGDLALKFGYPTPHGGCQKMDTTFTEGAVPGQFSNPAMALSDIRVAFSDYQHFALLYLEMRKGGLRNQWLQLYGGRAAGRRPRHPRFGSGMSPLCLHQPFLHAEGGTAGSWCLWPRVPAPPCPSLPLFAPPAPSL


uniprotID: Q8NES3
geneSymbol: LFNG
reactome: R-HSA-1912420;R-HSA-5083630;
length: 379
go: ENSG00000106003;
snps: rs104894024 rs71647813
name:
Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (EC 2.4.1.222) (O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular vesicle [GO:1903561]; integral component of Golgi membrane [GO:0030173]; acetylglucosaminyltransferase activity [GO:0008375]; metal ion binding [GO:0046872]; O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity [GO:0033829]; animal organ morphogenesis [GO:0009887]; compartment pattern specification [GO:0007386]; marginal zone B cell differentiation [GO:0002315]; negative regulation of Notch signaling pathway involved in somitogenesis [GO:1902367]; ovarian follicle development [GO:0001541]; positive regulation of meiotic cell cycle [GO:0051446]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of protein binding [GO:0032092]; protein O-linked fucosylation [GO:0036066]; regulation of Notch signaling pathway [GO:0008593]; regulation of somitogenesis [GO:0014807]; somitogenesis [GO:0001756]; T cell differentiation [GO:0030217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q8NES3-1; Sequence=Displayed; Name=2; IsoId=Q8NES3-2; Sequence=VSP_001792, VSP_001793; Name=3; IsoId=Q8NES3-3; Sequence=VSP_001794, VSP_001795; Name=4; IsoId=Q8NES3-4; Sequence=VSP_044850, VSP_044851; Note=No experimental confirmation available.; 


uniprotID: Q9UKR0
geneSymbol: KLK12
reactome: R-HSA-6809371;
name: Kallikrein-12 (EC 3.4.21.-) (Kallikrein-like protein 5) (KLK-L5)
length: 248
go: ENSG00000186474;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; cornification [GO:0070268]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UKR0-1; Sequence=Displayed; Name=2; IsoId=Q9UKR0-2; Sequence=VSP_005403; Name=3; IsoId=Q9UKR0-3; Sequence=VSP_045851, VSP_045852; 


uniprotID: P06870
geneSymbol: KLK1
reactome: R-HSA-381426;
pdb: 1SPJ;
name: Kallikrein-1 (EC 3.4.21.35) (Kidney/pancreas/salivary gland kallikrein) (Tissue kallikrein)
length: 262
go: ENSG00000167748;
drug: DB06692;
snps: rs5515 rs5516 rs5517 rs5518
sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleus [GO:0005634]; secretory granule [GO:0030141]; serine-type endopeptidase activity [GO:0004252]; regulation of systemic arterial blood pressure [GO:0003073]; zymogen activation [GO:0031638]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P06870-1; Sequence=Displayed; Name=2; IsoId=P06870-2; Sequence=VSP_037483; 


uniprotID: A2NJV5
geneSymbol: IGKV2-29
name: Immunoglobulin kappa variable 2-29
length: 120
sequence:
MRLPAQLLGLLMLWIPGSSADIVMTQTPLSLSVTPGQPASISCKSSQSLLHSDGKTYLYWYLQKPGQSPQLLIYEVSSRFSGVPDRFSGSGSGTDFTLKISRVEAEDVGVYYCMQGIHLP


uniprotID: Q5T5A8
geneSymbol: LCE3C
reactome: R-HSA-6809371;
sequence: MSCQQNQQQCQPPPSCPSPKCPPKSPAQCLPPPSSDCALSSGGCGPSSESGCCLSHHRHFRSHQCRRQRSNSCDRGSGQQGGGSCRGHGSGGCC
length: 94
go: ENSG00000244057;
name:
Late cornified envelope protein 3C (Late envelope protein 15) (Small proline-rich-like epidermal differentiation complex protein 3A)

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; structural molecule activity [GO:0005198]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; killing of cells of other organism [GO:0031640]; peptide cross-linking [GO:0018149]


uniprotID: Q8N3X6
geneSymbol: LCORL
name: Ligand-dependent nuclear receptor corepressor-like protein (LCoR-like protein)
length: 602
go: ENSG00000178177;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00320}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N3X6-1; Sequence=Displayed; Name=2; IsoId=Q8N3X6-2; Sequence=VSP_029287; Name=3; IsoId=Q8N3X6-3; Sequence=VSP_029288, VSP_029289; 


uniprotID: Q9Y5W3
geneSymbol: KLF2
name: Krueppel-like factor 2 (Lung krueppel-like factor)
length: 355
go: ENSG00000127528;
snps: rs3745318 rs45586032
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cell morphogenesis [GO:0000902]; cellular response to cycloheximide [GO:0071409]; cellular response to fluid shear stress [GO:0071498]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to interleukin-1 [GO:0071347]; cellular response to laminar fluid shear stress [GO:0071499]; cellular response to peptide [GO:1901653]; cellular response to tumor necrosis factor [GO:0071356]; cellular stress response to acid chemical [GO:0097533]; erythrocyte maturation [GO:0043249]; in utero embryonic development [GO:0001701]; multicellular organism growth [GO:0035264]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of sprouting angiogenesis [GO:1903671]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of protein metabolic process [GO:0051247]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to stress [GO:0036003]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of gene expression, epigenetic [GO:0040029]; regulation of transcription by RNA polymerase II [GO:0006357]; type I pneumocyte differentiation [GO:0060509]


uniprotID: Q3LI76
geneSymbol: KRTAP15-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 15-1
length: 137
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
snps: rs2832873
sequence:
MSYNCSSGNFSSCCFGSYLRYPVSTYNLFYPSNAIYSPNTCQLGSSLYNGCQETYCEPTSCQTSCTLARSYQTSCYCPKNSIFCSPRQTNYIRSLGCGNTGLGSLGCGSTGFQSLDCGSSFYHPTTFSSRNFQATCY


uniprotID: Q9BVA0
geneSymbol: KATNB1
name: Katanin p80 WD40 repeat-containing subunit B1 (Katanin p80 subunit B1) (p80 katanin)
length: 655
go: ENSG00000140854;
snps: rs730880259 rs60158050 rs730880257 rs730880258
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; growth cone [GO:0030426]; katanin complex [GO:0008352]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; spindle [GO:0005819]; spindle pole [GO:0000922]; dynein complex binding [GO:0070840]; microtubule binding [GO:0008017]; protein heterodimerization activity [GO:0046982]; cell division [GO:0051301]; microtubule depolymerization [GO:0007019]; microtubule severing [GO:0051013]; mitotic chromosome movement towards spindle pole [GO:0007079]; negative regulation of microtubule depolymerization [GO:0007026]; positive regulation of cell death [GO:0010942]; positive regulation of microtubule depolymerization [GO:0031117]; positive regulation of neuron projection development [GO:0010976]; protein targeting [GO:0006605]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26929214, ECO:0000269|PubMed:9658175}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16203747, ECO:0000269|PubMed:9568719}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16203747, ECO:0000269|PubMed:26929214, ECO:0000269|PubMed:9658175}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9568719, ECO:0000269|PubMed:9658175}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:26929214}. Note=Predominantly cytoplasmic. Localized to the interphase centrosome and mitotic spindle poles (PubMed:9658175). Localizes within the cytoplasm, partially overlapping with microtubules, in interphase and to the mitotic spindle and spindle poles during mitosis (PubMed:26929214). {ECO:0000269|PubMed:26929214, ECO:0000269|PubMed:9658175}.


uniprotID: Q6UWP7
geneSymbol: LCLAT1
reactome: R-HSA-1482798;R-HSA-1483166;
length: 414
go: ENSG00000172954;
snps: rs12471868
name:
Lysocardiolipin acyltransferase 1 (EC 2.3.1.-) (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 8) (1-AGP acyltransferase 8) (1-AGPAT 8) (Acyl-CoA:lysocardiolipin acyltransferase 1)

sequence:

opentargets:
cytosol [GO:0005829]; 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]; O-acyltransferase activity [GO:0008374]; transferase activity, transferring acyl groups [GO:0016746]; cardiolipin acyl-chain remodeling [GO:0035965]; CDP-diacylglycerol biosynthetic process [GO:0016024]; multicellular organism development [GO:0007275]; phosphatidic acid biosynthetic process [GO:0006654]; phosphatidylinositol acyl-chain remodeling [GO:0036149]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UWP7-1; Sequence=Displayed; Name=2; IsoId=Q6UWP7-2; Sequence=VSP_026181, VSP_026182; Note=No experimental confirmation available.; Name=3; IsoId=Q6UWP7-3; Sequence=VSP_044307; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19075029}; Multi-pass membrane protein {ECO:0000269|PubMed:19075029}.


uniprotID: Q8NG31
geneSymbol: KNL1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
pdb: 3SI5;4A1G;4NF9;4NFA;
length: 2342
go: ENSG00000137812;
name:
Kinetochore scaffold 1 (ALL1-fused gene from chromosome 15q14 protein) (AF15q14) (Bub-linking kinetochore protein) (Blinkin) (Cancer susceptibility candidate gene 5 protein) (Cancer/testis antigen 29) (CT29) (Kinetochore-null protein 1) (Protein CASC5) (Protein D40/AF15q14)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; acrosome assembly [GO:0001675]; attachment of spindle microtubules to kinetochore [GO:0008608]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]; negative regulation of phosphatase activity [GO:0010923]; protein localization to kinetochore [GO:0034501]

snps:
rs7177192 rs16970874 rs12911738 rs35146555 rs2412541 rs11858113 rs8040502 rs58614880 rs17747633 rs16970911 rs763915472 rs61164860 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NG31-1; Sequence=Displayed; Name=2; IsoId=Q8NG31-2; Sequence=VSP_013795; Name=3; IsoId=Q8NG31-3; Sequence=VSP_013795, VSP_013796, VSP_013797; Name=4; IsoId=Q8NG31-4; Sequence=VSP_013795, VSP_018524, VSP_018525; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Weakly expressed in interphase nuclei. Expression increases from prophase to late anaphase, but greatly diminishes from the telophase and cytokinesis to early G1 phase of cell cycle.


uniprotID: Q1ED39
geneSymbol: KNOP1
name: Lysine-rich nucleolar protein 1 (Protein FAM191A) (Testis-specific gene 118 protein)
length: 458
go: ENSG00000103550;
opentargets: nucleolus [GO:0005730]; RNA binding [GO:0003723]
snps: rs11640454 rs2074036 rs28424569
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:


uniprotID: Q8N6L1
geneSymbol: KRTCAP2
name: Keratinocyte-associated protein 2 (KCP-2)
length: 136
go: ENSG00000163463;
snps: rs17854920
sequence:
MVVGTGTSLALSSLLSLLLFAGMQMYSRQLASTEWLTIQGGLLGSGLFVFSLTAFNNLENLVFGKGFQAKIFPEILLCLLLALFASGLIHRVCVTTCFIFSMVGLYYINKISSTLYQAAAPVLTPAKVTGKSKKRN

opentargets:
integral component of membrane [GO:0016021]; oligosaccharyltransferase complex [GO:0008250]; protein N-linked glycosylation via arginine [GO:0042543]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q8N6L1-1; Sequence=Displayed; Name=2; IsoId=Q8N6L1-2; Sequence=VSP_053439; Note=Produced at low levels due to suboptimal Kozak context.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:21768116}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:22266900}; Multi-pass membrane protein {ECO:0000269|PubMed:22266900}.


uniprotID: P60014
geneSymbol: KRTAP10-10
reactome: R-HSA-6805567;
length: 251
go: ENSG00000221859;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs2838602 rs4818947 rs9306109 rs60500206 rs4818948 rs4818949 rs4818950
name:
Keratin-associated protein 10-10 (High sulfur keratin-associated protein 10.10) (Keratin-associated protein 10.10) (Keratin-associated protein 18-10) (Keratin-associated protein 18.10)

sequence:


uniprotID: Q8NEZ4
geneSymbol: KMT2C
reactome: R-HSA-3214841;R-HSA-5617472;R-HSA-8936459;
pdb: 2YSM;2YUK;3UVL;4ERY;5F59;5F6K;
length: 4911
go: ENSG00000055609;
snps: rs56850341 rs10454320 rs3735156 rs2838171 rs2838171 rs11771635 rs6951159 rs13231116 rs2270234
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Histone-lysine N-methyltransferase 2C (Lysine N-methyltransferase 2C) (EC 2.1.1.43) (Homologous to ALR protein) (Myeloid/lymphoid or mixed-lineage leukemia protein 3)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; MLL3/4 complex [GO:0044666]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; histone binding [GO:0042393]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; transcription coactivator activity [GO:0003713]; transferase activity, transferring acyl groups [GO:0016746]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of megakaryocyte differentiation [GO:0045652]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NEZ4-1; Sequence=Displayed; Name=2; IsoId=Q8NEZ4-2; Sequence=VSP_008561, VSP_008562, VSP_036223; Note=No experimental confirmation available.; Name=3; IsoId=Q8NEZ4-3; Sequence=VSP_008562; Note=No experimental confirmation available.; 


