# annotation

uniprotID: O60543
geneSymbol: CIDEA
reactome: R-HSA-8964572;
pdb: 2EEL;
name: Cell death activator CIDE-A (Cell death-inducing DFFA-like effector A)
length: 219
go: ENSG00000176194;
snps: rs11545881
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lipid droplet [GO:0005811]; mitochondrial envelope [GO:0005740]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; protein homodimerization activity [GO:0042803]; apoptotic process [GO:0006915]; cell death [GO:0008219]; lipid droplet organization [GO:0034389]; lipid metabolic process [GO:0006629]; lipid storage [GO:0019915]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of cytokine secretion [GO:0050710]; negative regulation of execution phase of apoptosis [GO:1900118]; negative regulation of lipid catabolic process [GO:0050995]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; negative regulation of tumor necrosis factor production [GO:0032720]; positive regulation of sequestering of triglyceride [GO:0010890]; regulation of apoptotic DNA fragmentation [GO:1902510]; response to stilbenoid [GO:0035634]; temperature homeostasis [GO:0001659]

location:
SUBCELLULAR LOCATION: Lipid droplet {ECO:0000269|PubMed:18509062}. Nucleus {ECO:0000250}. Note=Enriched at lipid droplet contact sites. Has been shown to localize to mitonchondria, where it could interact with UCP1 and hence inhibit UCP1 uncoupling activity (By similarity). These data could not be confirmed (PubMed:18509062). {ECO:0000250, ECO:0000269|PubMed:18509062}.


uniprotID: Q9P287
geneSymbol: BCCIP
name: BRCA2 and CDKN1A-interacting protein (P21- and CDK-associated protein 1) (Protein TOK-1)
length: 314
go: ENSG00000107949;
snps: rs17153610
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; mitotic spindle pole [GO:0097431]; nuclear cyclin-dependent protein kinase holoenzyme complex [GO:0019908]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; kinase regulator activity [GO:0019207]; RNA binding [GO:0003723]; tubulin binding [GO:0015631]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; establishment of mitotic spindle orientation [GO:0000132]; microtubule anchoring [GO:0034453]; microtubule cytoskeleton organization [GO:0000226]; mitotic spindle assembly [GO:0090307]; mitotic spindle organization [GO:0007052]; neuroendocrine cell differentiation [GO:0061101]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; ribosomal large subunit export from nucleus [GO:0000055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Beta; IsoId=Q9P287-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q9P287-2; Sequence=VSP_020540; Name=3; IsoId=Q9P287-3; Sequence=VSP_020541; Name=4; IsoId=Q9P287-4; Sequence=VSP_042023; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10878006, ECO:0000269|PubMed:11313963, ECO:0000269|PubMed:15713648}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28394342}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:28394342}. Note=Colocalizes with BRCA2 in discrete nuclear foci (PubMed:15713648). In interphase, preferential localizes to the mother centriole (PubMed:28394342). Recruited to the spindle pole matrix and centrosome by microtubules and dynein/dynactin activity (PubMed:28394342). {ECO:0000269|PubMed:15713648, ECO:0000269|PubMed:28394342}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:28394342}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:28394342}. Note=Isoform 1/beta tends to be less abundant at, and less strongly associated with, centrosomes than isoform 2/alpha. {ECO:0000269|PubMed:28394342}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:28394342}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:28394342}. Note=Isoform 2/alpha tends to be more abundant at, and more strongly associated with, centrosomes than isoform 1/beta. {ECO:0000269|PubMed:28394342}.


uniprotID: O43734
geneSymbol: TRAF3IP2
length: 574
go: ENSG00000056972;
snps: rs33980500 rs13190932 rs1043730 rs397518485
name:
Adapter protein CIKS (Connection to IKK and SAPK/JNK) (Nuclear factor NF-kappa-B activator 1) (ACT1) (TRAF3-interacting protein 2)

sequence:

opentargets:
intracellular [GO:0005622]; signaling receptor binding [GO:0005102]; B cell apoptotic process [GO:0001783]; humoral immune response [GO:0006959]; immunoglobulin secretion [GO:0048305]; intracellular signal transduction [GO:0035556]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=C6ORF4; IsoId=O43734-1; Sequence=Displayed; Name=2; Synonyms=C6ORF5, C6ORF6; IsoId=O43734-2; Sequence=VSP_004163; Name=3; IsoId=O43734-3; Sequence=VSP_035733; Name=4; IsoId=O43734-4; Sequence=VSP_040374; Name=5; IsoId=O43734-5; Sequence=VSP_004163, VSP_047098; Note=No experimental confirmation available.; 


uniprotID: Q9P2M7
geneSymbol: CGN
reactome: R-HSA-2173791;
name: Cingulin
length: 1197
snps: rs12038198
sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; myosin complex [GO:0016459]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; motor activity [GO:0003774]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2M7-1; Sequence=Displayed; Name=2; IsoId=Q9P2M7-2; Sequence=VSP_037039, VSP_037040; Note=May be due to an intron retention.; 

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250}. Note=Localizes to the apical junction complex composed of tight and adherens junctions. {ECO:0000250}.


uniprotID: O95999
geneSymbol: BCL10
reactome: R-HSA-1169091;R-HSA-202424;R-HSA-2871837;R-HSA-5607764;R-HSA-8866654;
pdb: 2MB9;6BZE;
length: 233
go: ENSG00000142867;
snps: rs12037217 rs121918314 rs200837308 rs3768235
name:
B-cell lymphoma/leukemia 10 (B-cell CLL/lymphoma 10) (Bcl-10) (CARD-containing molecule enhancing NF-kappa-B) (CARD-like apoptotic protein) (hCLAP) (CED-3/ICH-1 prodomain homologous E10-like regulator) (CIPER) (Cellular homolog of vCARMEN) (cCARMEN) (Cellular-E10) (c-E10) (Mammalian CARD-containing adapter molecule E10) (mE10)

sequence:

opentargets:
CBM complex [GO:0032449]; cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; immunological synapse [GO:0001772]; lysosome [GO:0005764]; membrane raft [GO:0045121]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; CARD domain binding [GO:0050700]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; NF-kappaB binding [GO:0051059]; protease binding [GO:0002020]; protein C-terminus binding [GO:0008022]; protein kinase B binding [GO:0043422]; protein kinase binding [GO:0019901]; protein self-association [GO:0043621]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; adaptive immune response [GO:0002250]; B cell apoptotic process [GO:0001783]; cell death [GO:0008219]; cellular defense response [GO:0006968]; cellular response to mechanical stimulus [GO:0071260]; Fc-epsilon receptor signaling pathway [GO:0038095]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; immunoglobulin mediated immune response [GO:0016064]; innate immune response [GO:0045087]; interleukin-6 biosynthetic process [GO:0042226]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; lymphotoxin A biosynthetic process [GO:0042109]; negative regulation of mature B cell apoptotic process [GO:0002906]; neural tube closure [GO:0001843]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-8 biosynthetic process [GO:0045416]; positive regulation of kinase activity [GO:0033674]; positive regulation of mast cell cytokine production [GO:0032765]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of phosphorylation [GO:0042327]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of T cell activation [GO:0050870]; positive regulation of transcription, DNA-templated [GO:0045893]; protein complex oligomerization [GO:0051259]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; protein ubiquitination [GO:0016567]; regulation of T cell receptor signaling pathway [GO:0050856]; response to food [GO:0032094]; response to fungus [GO:0009620]; response to molecule of bacterial origin [GO:0002237]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell apoptotic process [GO:0070231]; T cell receptor signaling pathway [GO:0050852]; toll-like receptor signaling pathway [GO:0002224]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:17287217}. Membrane raft {ECO:0000269|PubMed:17287217}. Note=Appears to have a perinuclear, compact and filamentous pattern of expression. Also found in the nucleus of several types of tumor cells. Colocalized with DPP4 in membrane rafts.


uniprotID: Q9UBD9
geneSymbol: CLCF1
reactome: R-HSA-6788467;
length: 225
go: ENSG00000175505;
snps: rs104894203
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Cardiotrophin-like cytokine factor 1 (B-cell-stimulating factor 3) (BSF-3) (Novel neurotrophin-1) (NNT-1)

sequence:

opentargets:
CNTFR-CLCF1 complex [GO:0097059]; CRLF-CLCF1 complex [GO:0097058]; extracellular region [GO:0005576]; intracellular [GO:0005622]; ciliary neurotrophic factor receptor binding [GO:0005127]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; protein heterodimerization activity [GO:0046982]; signaling receptor binding [GO:0005102]; B cell differentiation [GO:0030183]; cell surface receptor signaling pathway [GO:0007166]; cytokine-mediated signaling pathway [GO:0019221]; JAK-STAT cascade [GO:0007259]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of astrocyte differentiation [GO:0048711]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell proliferation [GO:0008284]; positive regulation of immunoglobulin production [GO:0002639]; positive regulation of isotype switching to IgE isotypes [GO:0048295]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBD9-1; Sequence=Displayed; Name=2; IsoId=Q9UBD9-2; Sequence=VSP_044269; 


uniprotID: P51800
geneSymbol: CLCNKA
reactome: R-HSA-2672351;
pdb: 2PFI;
name: Chloride channel protein ClC-Ka (Chloride channel Ka) (ClC-K1)
length: 687
go: ENSG00000186510;
drug: DB04552;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
chloride channel complex [GO:0034707]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; voltage-gated chloride channel activity [GO:0005247]; excretion [GO:0007588]; ion transmembrane transport [GO:0034220]; regulation of ion transmembrane transport [GO:0034765]

snps:
rs9442189 rs35932996 rs17855678 rs121909137 rs10927887 rs12126269 rs79751787 rs1805152 rs12140223 rs12746751 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51800-1; Sequence=Displayed; Name=2; IsoId=P51800-2; Sequence=VSP_044700; Note=No experimental confirmation available.; Name=3; IsoId=P51800-3; Sequence=VSP_045795; Note=No experimental confirmation available.; 


uniprotID: Q8IZS7
geneSymbol: CLECL1
length: 167
go: ENSG00000184293;
name:
C-type lectin-like domain family 1 (Dendritic cell-associated lectin 1) (DC-associated lectin-1) (DCAL-1)

sequence:
MVSNFFHVIQVFEKSATLISKTEHIGFVIYSWRKSTTHLGSRRKFAISIYLSEVSLQKYDCPFSGTSFVVFSLFLICAMAGDVVYADIKTVRTSPLELAFPLQRSVSFNFSTVHKSCPAKDWKVHKGKCYWIAETKKSWNKSQNDCAINNSYLMVIQDITAMVRFNI

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; B cell adhesion [GO:0097323]; interleukin-4 secretion [GO:0072602]; positive regulation of T cell proliferation [GO:0042102]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12421943}; Single-pass type II membrane protein {ECO:0000269|PubMed:12421943}.


uniprotID: P51790
geneSymbol: CLCN3
reactome: R-HSA-2672351;
name: H(+)/Cl(-) exchange transporter 3 (Chloride channel protein 3) (ClC-3) (Chloride transporter ClC-3)
length: 818
go: ENSG00000109572;
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasmic vesicle [GO:0031410]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; external side of plasma membrane [GO:0009897]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of synaptic vesicle membrane [GO:0030285]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; membrane [GO:0016020]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; secretory granule [GO:0030141]; specific granule [GO:0042581]; synaptic vesicle [GO:0008021]; transport vesicle membrane [GO:0030658]; vesicle membrane [GO:0012506]; ATP binding [GO:0005524]; chloride channel activity [GO:0005254]; chloride ion binding [GO:0031404]; PDZ domain binding [GO:0030165]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; solute:proton antiporter activity [GO:0015299]; voltage-gated chloride channel activity [GO:0005247]; volume-sensitive chloride channel activity [GO:0072320]; chloride transmembrane transport [GO:1902476]; endosomal lumen acidification [GO:0048388]; negative regulation of cell volume [GO:0045794]; regulation of pH [GO:0006885]; synaptic vesicle lumen acidification [GO:0097401]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=ClC-3A; IsoId=P51790-1; Sequence=Displayed; Name=2; Synonyms=ClC-3B; IsoId=P51790-2; Sequence=VSP_016073; Name=3; IsoId=P51790-4; Sequence=VSP_045105; Name=4; IsoId=P51790-5; Sequence=VSP_054415; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Early endosome membrane {ECO:0000269|PubMed:12471024}; Multi-pass membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000269|PubMed:12471024}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:P51791}; Multi-pass membrane protein {ECO:0000255}. Note=Isoform 1 is localized mainly in late endosomes. {ECO:0000269|PubMed:12471024}.; SUBCELLULAR LOCATION: Isoform 2: Golgi apparatus membrane {ECO:0000269|PubMed:12471024}; Multi-pass membrane protein {ECO:0000255}. Note=Isoform 2 is mainly enriched in the Golgi. {ECO:0000269|PubMed:12471024}.


uniprotID: P51793
geneSymbol: CLCN4
reactome: R-HSA-2672351;
name: H(+)/Cl(-) exchange transporter 4 (Chloride channel protein 4) (ClC-4) (Chloride transporter ClC-4)
length: 760
go: ENSG00000073464;
snps: rs587777161
sequence:

opentargets:
early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; late endosome membrane [GO:0031902]; plasma membrane [GO:0005886]; antiporter activity [GO:0015297]; ATP binding [GO:0005524]; chloride channel activity [GO:0005254]; chloride ion binding [GO:0031404]; solute:proton antiporter activity [GO:0015299]; voltage-gated chloride channel activity [GO:0005247]; chloride transport [GO:0006821]; ion transmembrane transport [GO:0034220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51793-1; Sequence=Displayed; Name=2; IsoId=P51793-2; Sequence=VSP_054658; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000250|UniProtKB:P51794}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P51794}. Late endosome membrane {ECO:0000250|UniProtKB:P51794}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P51794}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17023393}.


uniprotID: P51797
geneSymbol: CLCN6
reactome: R-HSA-2672351;R-HSA-6802952;
name: Chloride transport protein 6 (Chloride channel protein 6) (ClC-6)
length: 869
go: ENSG00000011021;
snps: rs198400
sequence:

opentargets:
endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; antiporter activity [GO:0015297]; ATP binding [GO:0005524]; voltage-gated chloride channel activity [GO:0005247]; cell volume homeostasis [GO:0006884]; chloride transmembrane transport [GO:1902476]; chloride transport [GO:0006821]; ion transmembrane transport [GO:0034220]; response to mechanical stimulus [GO:0009612]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=A, Clc-6a; IsoId=P51797-1; Sequence=Displayed; Name=2; Synonyms=B, ClC-6b, D2-A1; IsoId=P51797-2; Sequence=VSP_001043, VSP_001044; Name=3; Synonyms=C, ClC-6c, D1-A1; IsoId=P51797-3; Sequence=VSP_001045, VSP_001046; Name=4; Synonyms=D, ClC-6d, D1-A2; IsoId=P51797-4; Sequence=VSP_001047, VSP_001048; Name=5; IsoId=P51797-5; Sequence=VSP_017188; Note=No experimental confirmation available.; Name=6; IsoId=P51797-6; Sequence=VSP_047169; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:17534424}; Multi-pass membrane protein {ECO:0000269|PubMed:17534424}. Note=Detected in detergent-resistant lipid rafts.


uniprotID: P51798
geneSymbol: CLCN7
reactome: R-HSA-2672351;
length: 805
go: ENSG00000103249;
name:
H(+)/Cl(-) exchange transporter 7 (Chloride channel 7 alpha subunit) (Chloride channel protein 7) (ClC-7)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; antiporter activity [GO:0015297]; ATP binding [GO:0005524]; chloride channel activity [GO:0005254]; voltage-gated chloride channel activity [GO:0005247]; chloride transmembrane transport [GO:1902476]; response to pH [GO:0009268]

snps:
rs367567630 rs397515539 rs121434436 rs760956030 rs1291061962 rs977932714 rs765444328 rs12926089 rs368190250 rs139329533 rs1233085260 rs1064794323 rs1320932332 rs760740877 rs121434433 rs121434434 rs772579858 rs121434435 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51798-1; Sequence=Displayed; Name=2; IsoId=P51798-2; Sequence=VSP_045698; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18449189, ECO:0000269|PubMed:21527911}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18449189, ECO:0000269|PubMed:21527911}.


uniprotID: P78369
geneSymbol: CLDN10
reactome: R-HSA-420029;
name: Claudin-10 (Oligodendrocyte-specific protein-like) (OSP-like)
length: 228
go: ENSG00000134873;
snps: rs759408749
sequence:

opentargets:
bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; cell adhesion [GO:0007155]; ion transport [GO:0006811]; regulation of ion transport [GO:0043269]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Cldn10b; IsoId=P78369-1; Sequence=Displayed; Name=2; Synonyms=Cldn10a; IsoId=P78369-2; Sequence=VSP_042898; Name=3; Synonyms=Cldn10a_i1; IsoId=P78369-3; Sequence=VSP_053550; Note=Produced by alternative splicing of isoform 2.; 

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:19383724}. Cell membrane {ECO:0000269|PubMed:19383724, ECO:0000269|PubMed:28686597, ECO:0000269|PubMed:28771254}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: O75508
geneSymbol: CLDN11
reactome: R-HSA-420029;
name: Claudin-11 (Oligodendrocyte-specific protein)
length: 207
go: ENSG00000013297;
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane {ECO:0000269|PubMed:20375010}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P56749
geneSymbol: CLDN12
reactome: R-HSA-420029;
name: Claudin-12
length: 244
go: ENSG00000157224;
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane {ECO:0000269|PubMed:20375010}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P56746
geneSymbol: CLDN15
reactome: R-HSA-420029;
name: Claudin-15
length: 228
go: ENSG00000106404;
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; ion transport [GO:0006811]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein. Note=Tight junctions form continuous circumferential cell-cell contacts at the borders of apical and lateral cell membranes that seal the intercellular space and show up as strand-like structures in electron microscopy.


uniprotID: Q9Y5I7
geneSymbol: CLDN16
reactome: R-HSA-420029;
name: Claudin-16 (Paracellin-1) (PCLN-1)
length: 305
go: ENSG00000113946;
location: SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; magnesium ion transmembrane transporter activity [GO:0015095]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; cellular metal ion homeostasis [GO:0006875]; excretion [GO:0007588]

snps:
rs104893724 rs104893731 rs104893729 rs104893730 rs104893725 rs104893722 rs104893723 rs104893726 rs104893727 rs104893728 rs104893721 


uniprotID: O14967
geneSymbol: CLGN
name: Calmegin
length: 610
go: ENSG00000153132;
snps: rs2567241 rs2175563 rs12513290
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear envelope [GO:0005635]; calcium ion binding [GO:0005509]; protein binding involved in protein folding [GO:0044183]; unfolded protein binding [GO:0051082]; binding of sperm to zona pellucida [GO:0007339]; protein-containing complex assembly [GO:0065003]; single fertilization [GO:0007338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14967-1; Sequence=Displayed; Name=2; IsoId=O14967-2; Sequence=VSP_055517, VSP_055518; Note=No experimental confirmation available.; 


uniprotID: P53675
geneSymbol: CLTCL1
reactome: R-HSA-190873;R-HSA-196025;R-HSA-3928665;R-HSA-8856825;R-HSA-8856828;
name: Clathrin heavy chain 2 (Clathrin heavy chain on chromosome 22) (CLH-22)
length: 1640
go: ENSG00000070371;
sequence:

opentargets:
clathrin coat of trans-Golgi network vesicle [GO:0030130]; clathrin complex [GO:0071439]; clathrin-coated endocytic vesicle [GO:0045334]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; coated vesicle [GO:0030135]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; late endosome [GO:0005770]; membrane [GO:0016020]; sorting endosome [GO:0097443]; spindle [GO:0005819]; trans-Golgi network [GO:0005802]; clathrin light chain binding [GO:0032051]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; anatomical structure morphogenesis [GO:0009653]; clathrin coat assembly [GO:0048268]; intracellular protein transport [GO:0006886]; membrane organization [GO:0061024]; mitotic cell cycle [GO:0000278]; positive regulation of glucose import [GO:0046326]; receptor-mediated endocytosis [GO:0006898]; retrograde transport, endosome to Golgi [GO:0042147]

snps:
rs3747059 rs5746697 rs807459 rs1060374 rs35398725 rs36077768 rs712952 rs807547 rs1061325 rs1633399 rs2073738 rs5748024 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long, Brain; IsoId=P53675-1; Sequence=Displayed; Name=2; Synonyms=Short, Muscle; IsoId=P53675-2; Sequence=VSP_001100; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Membrane, coated pit {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Cytoplasmic face of coated pits and vesicles. {ECO:0000250}.


uniprotID: Q8NHS4
geneSymbol: CLHC1
name: Clathrin heavy chain linker domain-containing protein 1
length: 586
go: ENSG00000162994;
snps: rs9677948 rs6716066 rs14026 rs3186099
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NHS4-1; Sequence=Displayed; Name=2; IsoId=Q8NHS4-2; Sequence=VSP_032461; Note=No experimental confirmation available.; 


uniprotID: Q7RTS1
geneSymbol: BHLHA15
length: 189
go: ENSG00000180535;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Class A basic helix-loop-helix protein 15 (bHLHa15) (Class B basic helix-loop-helix protein 8) (bHLHb8) (Muscle, intestine and stomach expression 1) (MIST-1)

sequence:
MKTKNRPPRRRAPVQDTEATPGEGTPDGSLPNPGPEPAKGLRSRPARAAARAPGEGRRRRPGPSGPGGRRDSSIQRRLESNERERQRMHKLNNAFQALREVIPHVRADKKLSKIETLTLAKNYIKSLTATILTMSSSRLPGLEGPGPKLYQHYQQQQQVAGGALGATEAQPQGHLQRYSTQIHSFREGT

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein homodimerization activity [GO:0042803]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; calcium-mediated signaling [GO:0019722]; cell maturation [GO:0048469]; cell-cell signaling [GO:0007267]; cellular response to glucose starvation [GO:0042149]; endoplasmic reticulum unfolded protein response [GO:0030968]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose homeostasis [GO:0042593]; Golgi organization [GO:0007030]; intracellular distribution of mitochondria [GO:0048312]; mitochondrial calcium ion transmembrane transport [GO:0006851]; negative regulation of myotube differentiation [GO:0010832]


uniprotID: O95833
geneSymbol: CLIC3
pdb: 3FY7;3KJY;
name: Chloride intracellular channel protein 3
length: 236
go: ENSG00000169583;
snps: rs2292923
sequence:

opentargets:
chloride channel complex [GO:0034707]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nuclear body [GO:0016604]; nucleus [GO:0005634]; chloride channel activity [GO:0005254]; voltage-gated ion channel activity [GO:0005244]; chloride transport [GO:0006821]; regulation of ion transmembrane transport [GO:0034765]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Nucleus. Membrane; Single-pass membrane protein. Cytoplasm. Note=Predominantly nuclear. Some protein was found in the cytoplasm. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). {ECO:0000250}.


uniprotID: Q8NFJ8
geneSymbol: BHLHE22
length: 381
go: ENSG00000180828;
snps: rs7016250
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Class E basic helix-loop-helix protein 22 (bHLHe22) (Class B basic helix-loop-helix protein 5) (bHLHb5) (Trinucleotide repeat-containing gene 20 protein)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; neurogenesis [GO:0022008]


uniprotID: Q8NDY6
geneSymbol: BHLHE23
length: 225
go: ENSG00000125533;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Class E basic helix-loop-helix protein 23 (bHLHe23) (Class B basic helix-loop-helix protein 4) (bHLHb4)

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]; cell development [GO:0048468]


uniprotID: Q9NZA1
geneSymbol: CLIC5
name: Chloride intracellular channel protein 5
length: 410
go: ENSG00000112782;
snps: rs723580 rs35822882
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell cortex [GO:0005938]; chloride channel complex [GO:0034707]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; microtubule organizing center [GO:0005815]; chloride channel activity [GO:0005254]; voltage-gated ion channel activity [GO:0005244]; chloride transport [GO:0006821]; female pregnancy [GO:0007565]; regulation of ion transmembrane transport [GO:0034765]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=CLIC5B; IsoId=Q9NZA1-1; Sequence=Displayed; Name=1; Synonyms=CLIC5A; IsoId=Q9NZA1-2; Sequence=VSP_000869, VSP_000870; Name=3; IsoId=Q9NZA1-3; Sequence=VSP_044889, VSP_044890, VSP_044891; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cell cortex {ECO:0000269|PubMed:15184393}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15184393}. Membrane {ECO:0000269|PubMed:15184393}; Single-pass membrane protein {ECO:0000269|PubMed:15184393}. Note=Associates with the cortical actin cytoskeleton. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Membrane; Single-pass membrane protein. Note=Colocalized with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). Colocalized with podocalyxin in renal glomeruli. {ECO:0000250}.


uniprotID: Q9C0J9
geneSymbol: BHLHE41
reactome: R-HSA-1368108;R-HSA-400253;
length: 482
go: ENSG00000123095;
snps: rs121912617
name:
Class E basic helix-loop-helix protein 41 (bHLHe41) (Class B basic helix-loop-helix protein 3) (bHLHb3) (Differentially expressed in chondrocytes protein 2) (hDEC2) (Enhancer-of-split and hairy-related protein 1) (SHARP-1)

sequence:

opentargets:
nucleus [GO:0005634]; bHLH transcription factor binding [GO:0043425]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; E-box binding [GO:0070888]; histone deacetylase binding [GO:0042826]; MRF binding [GO:0043426]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; animal organ morphogenesis [GO:0009887]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; circadian regulation of gene expression [GO:0032922]; negative regulation of myotube differentiation [GO:0010832]; negative regulation of transcription by competitive promoter binding [GO:0010944]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling pathway [GO:0007219]; regulation of neurogenesis [GO:0050767]; somitogenesis [GO:0001756]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00380, ECO:0000255|PROSITE-ProRule:PRU00981}.


uniprotID: Q93088
geneSymbol: BHMT
reactome: R-HSA-1614635;R-HSA-6798163;
pdb: 1LT7;1LT8;4M3P;
name: Betaine--homocysteine S-methyltransferase 1 (EC 2.1.1.5)
length: 406
go: ENSG00000145692;
drug: DB04272;DB00134;DB02337;
snps: rs59866108 rs3733890
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; betaine-homocysteine S-methyltransferase activity [GO:0047150]; zinc ion binding [GO:0008270]; amino-acid betaine catabolic process [GO:0006579]; amino-acid betaine metabolic process [GO:0006577]; choline catabolic process [GO:0042426]; L-methionine salvage [GO:0071267]; protein methylation [GO:0006479]; regulation of homocysteine metabolic process [GO:0050666]; sulfur amino acid metabolic process [GO:0000096]


uniprotID: Q9UDT6
geneSymbol: CLIP2
pdb: 2CP2;2CP3;
length: 1046
go: ENSG00000106665;
snps: rs17145468 rs2522943
name:
CAP-Gly domain-containing linker protein 2 (Cytoplasmic linker protein 115) (CLIP-115) (Cytoplasmic linker protein 2) (Williams-Beuren syndrome chromosomal region 3 protein) (Williams-Beuren syndrome chromosomal region 4 protein)

sequence:

opentargets:
cytoplasmic microtubule [GO:0005881]; microtubule associated complex [GO:0005875]; microtubule plus-end [GO:0035371]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UDT6-1; Sequence=Displayed; Name=2; IsoId=Q9UDT6-2; Sequence=VSP_015682; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O55156}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9Z0H8}. Note=Localizes preferentially to the ends of tyrosinated microtubules. {ECO:0000250|UniProtKB:Q9Z0H8}.


uniprotID: Q96DZ5
geneSymbol: CLIP3
reactome: R-HSA-5357905;
pdb: 2CP0;
length: 547
go: ENSG00000105270;
snps: rs17851002
name:
CAP-Gly domain-containing linker protein 3 (Cytoplasmic linker protein 170-related 59 kDa protein) (CLIP-170-related 59 kDa protein) (CLIPR-59)

sequence:

opentargets:
cytosol [GO:0005829]; early endosome membrane [GO:0031901]; Golgi stack [GO:0005795]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; ganglioside binding [GO:0035594]; microtubule binding [GO:0008017]; chaperone-mediated protein transport [GO:0072321]; fat cell differentiation [GO:0045444]; membrane biogenesis [GO:0044091]; negative regulation of microtubule polymerization [GO:0031115]; peptidyl-L-cysteine S-palmitoylation [GO:0018230]; positive regulation of apoptotic process [GO:0043065]; positive regulation of endocytosis [GO:0045807]; positive regulation of glucose transmembrane transport [GO:0010828]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of protein phosphorylation [GO:0001934]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24001771}; Lipid-anchor {ECO:0000269|PubMed:24001771}. Cytoplasm {ECO:0000269|PubMed:24001771}. Golgi apparatus, Golgi stack {ECO:0000269|PubMed:24001771}. Note=Localized to Golgi stacks as well as on tubulovesicular elements juxtaposed to Golgi cisternae.


uniprotID: Q8N3C7
geneSymbol: CLIP4
pdb: 2Z0W;
name: CAP-Gly domain-containing linker protein 4 (Restin-like protein 2)
length: 705
go: ENSG00000115295;
opentargets: intracellular membrane-bounded organelle [GO:0043231]
snps: rs3100246 rs34327508
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N3C7-1; Sequence=Displayed; Name=2; IsoId=Q8N3C7-2; Sequence=VSP_012971, VSP_012972; Note=No experimental confirmation available.; Name=3; IsoId=Q8N3C7-3; Sequence=VSP_012972; Note=No experimental confirmation available.; Name=4; IsoId=Q8N3C7-4; Sequence=VSP_012969, VSP_012970; Note=No experimental confirmation available.; 


uniprotID: P49760
geneSymbol: CLK2
pdb: 3NR9;5UNP;6FYI;6FYK;6FYL;
name: Dual specificity protein kinase CLK2 (EC 2.7.12.1) (CDC-like kinase 2)
length: 499
go: ENSG00000176444;
sequence:

opentargets:
nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; negative regulation of gluconeogenesis [GO:0045721]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of RNA splicing [GO:0043484]; response to ionizing radiation [GO:0010212]; response to retinoic acid [GO:0032526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=P49760-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P49760-2; Sequence=VSP_004856, VSP_004857; Note=Lacks the kinase domain. 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=P49760-3; Sequence=VSP_038744; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Nucleus speckle. Note=Inhibition of phosphorylation at Ser-142 results in accumulation in the nuclear speckle. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus speckle. Note=Co-localizes with serine- and arginine-rich (SR) proteins in the nuclear speckles.


uniprotID: P49761
geneSymbol: CLK3
pdb: 2EU9;2EXE;2WU6;2WU7;3RAW;6FT7;6FYP;6FYR;
name: Dual specificity protein kinase CLK3 (EC 2.7.12.1) (CDC-like kinase 3)
length: 638
go: ENSG00000179335;
snps: rs910378995 rs920443187
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; intermediate filament cytoskeleton [GO:0045111]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; RNA binding [GO:0003723]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of RNA splicing [GO:0043484]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=P49761-4; Sequence=Displayed; Name=1; Synonyms=Long; IsoId=P49761-1; Sequence=VSP_026138; Name=2; Synonyms=Short; IsoId=P49761-2; Sequence=VSP_026138, VSP_004858, VSP_004859; Note=Lacks the kinase domain. 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=P49761-3; Sequence=VSP_026138, VSP_004860; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Cytoplasm {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus speckle. Note=Co-localizes with serine- and arginine-rich (SR) proteins in the nuclear speckles.


uniprotID: Q9HAZ1
geneSymbol: CLK4
pdb: 6FYV;
name: Dual specificity protein kinase CLK4 (EC 2.7.12.1) (CDC-like kinase 4)
length: 481
go: ENSG00000113240;
snps: rs35272416 rs55746655
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; protein autophosphorylation [GO:0046777]; regulation of RNA splicing [GO:0043484]


uniprotID: Q9UHR4
geneSymbol: BAIAP2L1
pdb: 2KXC;2LNH;
length: 511
go: ENSG00000006453;
snps: rs2269966
name:
Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 (BAI1-associated protein 2-like protein 1) (Insulin receptor tyrosine kinase substrate)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell-cell adherens junction [GO:0005913]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; cadherin binding involved in cell-cell adhesion [GO:0098641]; proline-rich region binding [GO:0070064]; actin crosslink formation [GO:0051764]; actin filament bundle assembly [GO:0051017]; plasma membrane organization [GO:0007009]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of actin filament polymerization [GO:0030838]; regulation of insulin receptor signaling pathway [GO:0046626]; response to bacterium [GO:0009617]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19366662}. Note=Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites.


uniprotID: Q5K131
geneSymbol: CLLU1
name: Chronic lymphocytic leukemia up-regulated protein 1
length: 121
opentargets: cytoplasm [GO:0005737]
snps: rs12580153
sequence:
MFNKCSFHSSIYRPAADNSASSLCAIICFLNLVIECDLETNSEINKLIIYLFSQNNRIRFSKLLLKILFYISIFSYPELMCEQYVTFIKPGIHYGQVSKKHIIYSTFLSKNFKFQLLRVCW

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19212335}. Note=Detected in the cytoplasm of chronic lymphocytic leukemia (CLL) cells.


uniprotID: Q6UXY1
geneSymbol: BAIAP2L2
length: 529
go: ENSG00000128298;
name:
Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 (BAI1-associated protein 2-like protein 2) (Planar intestinal- and kidney-specific BAR domain protein) (Pinkbar)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell-cell contact zone [GO:0044291]; clathrin complex [GO:0071439]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; vesicle membrane [GO:0012506]; phospholipid binding [GO:0005543]; actin crosslink formation [GO:0051764]; actin filament bundle assembly [GO:0051017]; membrane organization [GO:0061024]; plasma membrane organization [GO:0007009]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of actin filament polymerization [GO:0030838]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UXY1-1; Sequence=Displayed; Name=2; IsoId=Q6UXY1-2; Sequence=VSP_021324; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21743456}; Peripheral membrane protein {ECO:0000269|PubMed:21743456}. Cell junction {ECO:0000269|PubMed:21743456}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21743456}. Note=Localizes to RAB13-positive vesicles and to the plasma membrane at intercellular contacts.


uniprotID: Q9H694
geneSymbol: BICC1
pdb: 4RQM;4RQN;6GY4;
name: Protein bicaudal C homolog 1 (Bic-C)
length: 974
go: ENSG00000122870;
snps: rs7905025 rs753582128 rs138916713 rs387907124 rs4948550 rs7895817
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; RNA binding [GO:0003723]; determination of left/right symmetry [GO:0007368]; heart development [GO:0007507]; negative regulation of canonical Wnt signaling pathway [GO:0090090]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H694-1; Sequence=Displayed; Name=2; IsoId=Q9H694-2; Sequence=VSP_021949; 


uniprotID: Q96G01
geneSymbol: BICD1
reactome: R-HSA-6811436;
name: Protein bicaudal D homolog 1 (Bic-D 1)
length: 975
go: ENSG00000151746;
snps: rs200845476
location: SUBCELLULAR LOCATION: Golgi apparatus.
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasmic vesicle [GO:0031410]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; host cell viral assembly compartment [GO:0072517]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; trans-Golgi network [GO:0005802]; cytoskeletal adaptor activity [GO:0008093]; dynactin binding [GO:0034452]; dynein complex binding [GO:0070840]; dynein intermediate chain binding [GO:0045505]; protein kinase binding [GO:0019901]; proteinase activated receptor binding [GO:0031871]; Rab GTPase binding [GO:0017137]; structural constituent of cytoskeleton [GO:0005200]; anatomical structure morphogenesis [GO:0009653]; intracellular mRNA localization [GO:0008298]; microtubule anchoring at microtubule organizing center [GO:0072393]; minus-end-directed organelle transport along microtubule [GO:0072385]; negative regulation of phospholipase C activity [GO:1900275]; negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway [GO:1900737]; positive regulation of protein localization to centrosome [GO:1904781]; positive regulation of receptor-mediated endocytosis [GO:0048260]; protein localization to organelle [GO:0033365]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of proteinase activated receptor activity [GO:1900276]; RNA processing [GO:0006396]; stress granule assembly [GO:0034063]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96G01-1; Sequence=Displayed; Name=2; IsoId=Q96G01-2; Sequence=VSP_007961, VSP_007962; Note=Due to intron retention. No experimental confirmation available.; Name=3; IsoId=Q96G01-3; Sequence=VSP_007963, VSP_007964; Note=Due to intron retention.; Name=4; IsoId=Q96G01-4; Sequence=VSP_045637, VSP_045638; Note=No experimental confirmation available.; 


uniprotID: Q8TD16
geneSymbol: BICD2
reactome: R-HSA-6811436;
name: Protein bicaudal D homolog 2 (Bic-D 2)
length: 824
go: ENSG00000185963;
snps: rs61754130 rs398123028 rs398123029 rs398123032 rs398123031 rs371707778 rs398123030
sequence:

opentargets:
annulate lamellae [GO:0005642]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nuclear envelope [GO:0005635]; nuclear pore [GO:0005643]; plasma membrane [GO:0005886]; cytoskeletal adaptor activity [GO:0008093]; dynactin binding [GO:0034452]; dynein complex binding [GO:0070840]; dynein light intermediate chain binding [GO:0051959]; Rab GTPase binding [GO:0017137]; centrosome localization [GO:0051642]; microtubule anchoring at microtubule organizing center [GO:0072393]; minus-end-directed organelle transport along microtubule [GO:0072385]; mRNA transport [GO:0051028]; protein localization to Golgi apparatus [GO:0034067]; protein transport [GO:0015031]; regulation of microtubule cytoskeleton organization [GO:0070507]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TD16-1; Sequence=Displayed; Name=2; IsoId=Q8TD16-2; Sequence=VSP_007969; Note=Due to intron retention. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:23664116, ECO:0000269|PubMed:23664119}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11864968}. Cytoplasm {ECO:0000269|PubMed:23664116, ECO:0000269|PubMed:23664120}. Nucleus envelope {ECO:0000269|PubMed:20386726}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:20386726}. Note=In interphase cells mainly localizes to the Golgi complex and colocalizes with dynactin at microtubule plus ends (By similarity). Localizes to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae in a RANBP2-dependent manner during G2 phase of the cell cycle (PubMed:20386726). {ECO:0000250|UniProtKB:Q921C5, ECO:0000269|PubMed:11864968, ECO:0000269|PubMed:20386726}.


uniprotID: Q08708
geneSymbol: CD300C
reactome: R-HSA-198933;
length: 224
go: ENSG00000167850;
snps: rs11870245
name:
CMRF35-like molecule 6 (CLM-6) (CD300 antigen-like family member C) (CMRF35-A1) (CMRF-35) (Immunoglobulin superfamily member 16) (IgSF16) (CD antigen CD300c)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; transmembrane signaling receptor activity [GO:0004888]; cellular defense response [GO:0006968]; immune system process [GO:0002376]; regulation of immune response [GO:0050776]


uniprotID: A8K4G0
geneSymbol: CD300LB
reactome: R-HSA-198933;R-HSA-2172127;
length: 201
go: ENSG00000178789;
name:
CMRF35-like molecule 7 (CLM-7) (CD300 antigen-like family member B) (CMRF35-A2) (Immune receptor expressed on myeloid cells 3) (IREM-3) (Leukocyte mono-Ig-like receptor 5) (Triggering receptor expressed on myeloid cells 5) (TREM-5) (CD antigen CD300b)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; innate immune response [GO:0045087]; regulation of immune response [GO:0050776]


uniprotID: Q6ZP65
geneSymbol: BICDL1
length: 573
go: ENSG00000135127;
name:
BICD family-like cargo adapter 1 (Bicaudal D-related protein 1) (BICD-related protein 1) (BICDR-1) (Coiled-coil domain-containing protein 64A) (CCDC64A)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; dynactin binding [GO:0034452]; Rab GTPase binding [GO:0017137]; Golgi to secretory granule transport [GO:0055107]; neuron projection development [GO:0031175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZP65-1; Sequence=Displayed; Name=2; IsoId=Q6ZP65-2; Sequence=VSP_056941, VSP_056942; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=Localizes around the centrosome. {ECO:0000250}.


uniprotID: A1A5D9
geneSymbol: BICDL2
length: 508
go: ENSG00000162069;
snps: rs7204908 rs2244494
name:
BICD family-like cargo adapter 2 (Bicaudal D-related protein 2) (BICD-related protein 2) (BICDR-2) (Coiled-coil domain-containing protein 64B)

sequence:

opentargets:
cytoplasm [GO:0005737]; Rab GTPase binding [GO:0017137]; Golgi to secretory granule transport [GO:0055107]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A1A5D9-1; Sequence=Displayed; Name=2; IsoId=A1A5D9-2; Sequence=VSP_027976; Note=No experimental confirmation available.; 


uniprotID: Q9NZM4
geneSymbol: BICRA
length: 1560
go: ENSG00000063169;
snps: rs3745762 rs13346368
name:
BRD4-interacting chromatin-remodeling complex-associated protein (Glioma tumor suppressor candidate region gene 1 protein)

sequence:

opentargets:
nucleus [GO:0005634]; SWI/SNF complex [GO:0016514]; transcription coactivator activity [GO:0003713]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZM4-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9NZM4-2; Sequence=VSP_035776; Note=No experimental confirmation available.; 


uniprotID: Q6AI39
geneSymbol: BICRAL
length: 1079
go: ENSG00000112624;
opentargets: SWI/SNF complex [GO:0016514]
name:
BRD4-interacting chromatin-remodeling complex-associated protein-like (Glioma tumor suppressor candidate region gene 1 protein-like)

sequence:


uniprotID: P55957
geneSymbol: BID
reactome: R-HSA-111447;R-HSA-111452;R-HSA-111453;R-HSA-114294;R-HSA-6803204;R-HSA-75108;
pdb: 1ZY3;2BID;2KBW;2M5B;2M5I;4BD2;4QVE;4ZEQ;4ZIG;4ZII;5AJJ;5C3F;
length: 195
go: ENSG00000015475;
snps: rs8190315 rs17853595 rs59225839
name:
BH3-interacting domain death agonist (p22 BID) (BID) [Cleaved into: BH3-interacting domain death agonist p15 (p15 BID); BH3-interacting domain death agonist p13 (p13 BID); BH3-interacting domain death agonist p11 (p11 BID)]

sequence:
MDCEVNNGSSLRDECITNLLVFGFLQSCSDNSFRRELDALGHELPVLAPQWEGYDELQTDGNRSSHSRLGRIEADSESQEDIIRNIARHLAQVGDSMDRSIPPGLVNGLALQLRNTSRSEEDRNRDLATALEQLLQAYPRDMEKEKTMLVLALLLAKKVASHTPSLLRDVFHTTVNFINQNLRTYVRSLARNGMD

opentargets:
cytosol [GO:0005829]; integral component of mitochondrial membrane [GO:0032592]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; death receptor binding [GO:0005123]; protein heterodimerization activity [GO:0046982]; ubiquitin protein ligase binding [GO:0031625]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic mitochondrial changes [GO:0008637]; establishment of protein localization to membrane [GO:0090150]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; hepatocyte apoptotic process [GO:0097284]; mitochondrial ATP synthesis coupled electron transport [GO:0042775]; mitochondrial outer membrane permeabilization [GO:0097345]; negative regulation of apoptotic process [GO:0043066]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; neuron apoptotic process [GO:0051402]; positive regulation of apoptotic process [GO:0043065]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of fibroblast apoptotic process [GO:2000271]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of mitochondrial membrane potential [GO:0010918]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]; positive regulation of protein homooligomerization [GO:0032464]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of protein oligomerization [GO:0032461]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; protein homooligomerization [GO:0051260]; protein targeting to mitochondrion [GO:0006626]; regulation of apoptotic process [GO:0042981]; regulation of cell proliferation [GO:0042127]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; release of cytochrome c from mitochondria [GO:0001836]; signal transduction in response to DNA damage [GO:0042770]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=BID(L); IsoId=P55957-1; Sequence=Displayed; Name=2; Synonyms=BID(EL); IsoId=P55957-2; Sequence=VSP_017267; Name=3; Synonyms=BID(S); IsoId=P55957-3; Sequence=VSP_017268, VSP_017269; Name=4; Synonyms=BID(ES); IsoId=P55957-4; Sequence=VSP_017266; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14583606}. Mitochondrion membrane {ECO:0000269|PubMed:14583606}. Mitochondrion outer membrane {ECO:0000269|PubMed:29531808}. Note=When uncleaved, it is predominantly cytoplasmic. {ECO:0000269|PubMed:14583606}.; SUBCELLULAR LOCATION: BH3-interacting domain death agonist p15: Mitochondrion membrane {ECO:0000250|UniProtKB:P70444}. Note=Translocates to mitochondria as an integral membrane protein. {ECO:0000250|UniProtKB:P70444}.; SUBCELLULAR LOCATION: BH3-interacting domain death agonist p13: Mitochondrion membrane {ECO:0000250|UniProtKB:P70444}. Note=Associated with the mitochondrial membrane. {ECO:0000250|UniProtKB:P70444}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:14583606}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:14583606}.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion membrane {ECO:0000269|PubMed:14583606}. Note=A significant proportion of isoform 2 localizes to mitochondria, it may be cleaved constitutively. {ECO:0000269|PubMed:14583606}.


uniprotID: P53004
geneSymbol: BLVRA
reactome: R-HSA-189483;
pdb: 2H63;
name: Biliverdin reductase A (BVR A) (EC 1.3.1.24) (Biliverdin-IX alpha-reductase)
length: 296
go: ENSG00000106605;
drug: DB00157;
snps: rs699512 rs17245918 rs1050916
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; biliverdin reductase activity [GO:0004074]; zinc ion binding [GO:0008270]; heme catabolic process [GO:0042167]; oxidation-reduction process [GO:0055114]


uniprotID: O75503
geneSymbol: CLN5
length: 358
go: ENSG00000102805;
name:
Ceroid-lipofuscinosis neuronal protein 5 (Protein CLN5) [Cleaved into: Ceroid-lipofuscinosis neuronal protein 5, secreted form]

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; perinuclear region of cytoplasm [GO:0048471]; mannose binding [GO:0005537]; brain development [GO:0007420]; glycosylation [GO:0070085]; lysosomal lumen acidification [GO:0007042]; neurogenesis [GO:0022008]; neuron maturation [GO:0042551]; positive regulation of GTP binding [GO:1904426]; protein catabolic process [GO:0030163]; retrograde transport, endosome to Golgi [GO:0042147]; signal peptide processing [GO:0006465]

snps:
rs199727787 rs104894386 rs104894386 rs267606738 rs386833975 rs386833976 rs386833977 rs147065248 rs386833978 rs138611001 rs386833981 rs11842935 rs28940280 rs1800209 rs148862100 rs386833968 

location:
SUBCELLULAR LOCATION: Ceroid-lipofuscinosis neuronal protein 5, secreted form: Lysosome {ECO:0000269|PubMed:11971870, ECO:0000269|PubMed:20052765, ECO:0000269|PubMed:22431521, ECO:0000269|PubMed:24038957, ECO:0000269|PubMed:24058541}.; SUBCELLULAR LOCATION: Ceroid-lipofuscinosis neuronal protein 5: Membrane {ECO:0000269|PubMed:24038957}; Single-pass type II membrane protein {ECO:0000269|PubMed:24038957}. Note=An amphipathic anchor region facilitates its association with the membrane. {ECO:0000269|PubMed:24038957}.


uniprotID: Q9UBY8
geneSymbol: CLN8
name: Protein CLN8
length: 286
go: ENSG00000182372;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; presynapse [GO:0098793]; adult walking behavior [GO:0007628]; age-dependent response to oxidative stress [GO:0001306]; associative learning [GO:0008306]; cellular protein catabolic process [GO:0044257]; ceramide biosynthetic process [GO:0046513]; ceramide metabolic process [GO:0006672]; cholesterol metabolic process [GO:0008203]; glutamate reuptake [GO:0051935]; lipid biosynthetic process [GO:0008610]; lipid transport [GO:0006869]; lysosome organization [GO:0007040]; mitochondrial membrane organization [GO:0007006]; musculoskeletal movement [GO:0050881]; negative regulation of apoptotic process [GO:0043066]; negative regulation of proteolysis [GO:0045861]; nervous system development [GO:0007399]; neurofilament cytoskeleton organization [GO:0060052]; neuromuscular process controlling balance [GO:0050885]; neuromuscular process controlling posture [GO:0050884]; phospholipid metabolic process [GO:0006644]; photoreceptor cell maintenance [GO:0045494]; protein catabolic process [GO:0030163]; regulation of cell size [GO:0008361]; retina development in camera-type eye [GO:0060041]; social behavior [GO:0035176]; somatic motor neuron differentiation [GO:0021523]; visual perception [GO:0007601]

snps:
rs386834129 rs104894064 rs137852883 rs386834124 rs386834125 rs34030778 rs386834126 rs142269885 rs386834127 rs386834128 rs386834130 rs188259026 rs386834133 rs104894060 rs386834134 rs781166361 rs386834136 rs150047904 rs746645358 rs28940569 rs139003032 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10861296}; Multi-pass membrane protein {ECO:0000269|PubMed:10861296}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:10861296}; Multi-pass membrane protein {ECO:0000269|PubMed:10861296}. Endoplasmic reticulum {ECO:0000269|PubMed:19941651}.


uniprotID: Q9Y6D5
geneSymbol: ARFGEF2
reactome: R-HSA-390471;
pdb: 3L8N;3SWV;
length: 1785
go: ENSG00000124198;
snps: rs28937880 rs6063343 rs748482139
name:
Brefeldin A-inhibited guanine nucleotide-exchange protein 2 (Brefeldin A-inhibited GEP 2) (ADP-ribosylation factor guanine nucleotide-exchange factor 2)

sequence:

opentargets:
asymmetric synapse [GO:0032279]; axonemal microtubule [GO:0005879]; cell junction [GO:0030054]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; perinuclear region of cytoplasm [GO:0048471]; recycling endosome [GO:0055037]; symmetric synapse [GO:0032280]; trans-Golgi network [GO:0005802]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; GABA receptor binding [GO:0050811]; guanyl-nucleotide exchange factor activity [GO:0005085]; myosin binding [GO:0017022]; protein kinase A regulatory subunit binding [GO:0034237]; endomembrane system organization [GO:0010256]; endosome organization [GO:0007032]; exocytosis [GO:0006887]; Golgi to plasma membrane transport [GO:0006893]; intracellular signal transduction [GO:0035556]; positive regulation of tumor necrosis factor production [GO:0032760]; protein transport [GO:0015031]; receptor recycling [GO:0001881]; regulation of ARF protein signal transduction [GO:0032012]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane. Golgi apparatus. Cytoplasm, perinuclear region. Golgi apparatus, trans-Golgi network {ECO:0000250}. Endosome {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, dendrite {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Translocates from cytoplasm to membranes upon cAMP treatment. Localized in recycling endosomes.


uniprotID: Q9UBW5
geneSymbol: BIN2
reactome: R-HSA-6798695;
pdb: 4AVM;4I1Q;
name: Bridging integrator 2 (Breast cancer-associated protein 1)
length: 565
go: ENSG00000110934;
snps: rs7312857 rs7954976
sequence:

opentargets:
cell cortex [GO:0005938]; cell junction [GO:0030054]; cell projection [GO:0042995]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; phagocytic cup [GO:0001891]; plasma membrane [GO:0005886]; podosome [GO:0002102]; secretory granule lumen [GO:0034774]; phospholipid binding [GO:0005543]; cell chemotaxis [GO:0060326]; neutrophil degranulation [GO:0043312]; phagocytosis, engulfment [GO:0006911]; plasma membrane tubulation [GO:0097320]; podosome assembly [GO:0071800]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UBW5-1; Sequence=Displayed; Name=2; IsoId=Q9UBW5-2; Sequence=VSP_021328; Note=No experimental confirmation available.; Name=3; IsoId=Q9UBW5-3; Sequence=VSP_059731; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23285027}. Cell projection, podosome membrane {ECO:0000269|PubMed:23285027}; Peripheral membrane protein {ECO:0000269|PubMed:23285027}; Cytoplasmic side {ECO:0000269|PubMed:23285027}. Cytoplasm, cell cortex {ECO:0000269|PubMed:23285027}. Cell projection, phagocytic cup {ECO:0000269|PubMed:23285027}. Note=Associates with membranes enriched in phosphoinositides. Detected in the actin-rich cell cortex at the leading edge of migrating cells. Detected at podosomes, at an actin-rich ring-like structure. {ECO:0000269|PubMed:23285027}.


uniprotID: Q9NQY0
geneSymbol: BIN3
name: Bridging integrator 3
length: 253
go: ENSG00000147439;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:

opentargets:
actin filament [GO:0005884]; cytoplasm [GO:0005737]; cytoskeletal adaptor activity [GO:0008093]; actin filament organization [GO:0007015]; cytoskeleton-dependent cytokinesis [GO:0061640]; division septum assembly [GO:0000917]; myoblast migration involved in skeletal muscle regeneration [GO:0014839]; protein localization [GO:0008104]; regulation of lamellipodium assembly [GO:0010591]; skeletal muscle fiber development [GO:0048741]; unidimensional cell growth [GO:0009826]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQY0-1; Sequence=Displayed; Name=2; IsoId=Q9NQY0-2; Sequence=VSP_013465; Note=No experimental confirmation available.; 


uniprotID: Q96KA5
geneSymbol: CLPTM1L
length: 538
go: ENSG00000049656;
opentargets: integral component of membrane [GO:0016021]; membrane [GO:0016020]; apoptotic process [GO:0006915]
snps: rs33955038
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Cleft lip and palate transmembrane protein 1-like protein (CLPTM1-like protein) (Cisplatin resistance-related protein 9) (CRR9p)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96KA5-1; Sequence=Displayed; Name=2; IsoId=Q96KA5-2; Sequence=VSP_033157; 


uniprotID: Q92989
geneSymbol: CLP1
reactome: R-HSA-109688;R-HSA-6784531;R-HSA-72163;R-HSA-72187;R-HSA-77595;
length: 425
go: ENSG00000172409;
snps: rs587777616
name:
Polyribonucleotide 5'-hydroxyl-kinase Clp1 (EC 2.7.1.78) (Polyadenylation factor Clp1) (Polynucleotide kinase Clp1) (Pre-mRNA cleavage complex II protein Clp1)

sequence:

opentargets:
cytosol [GO:0005829]; mRNA cleavage factor complex [GO:0005849]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; tRNA-intron endonuclease complex [GO:0000214]; ATP binding [GO:0005524]; ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity [GO:0046404]; ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity [GO:0051736]; polydeoxyribonucleotide kinase activity [GO:0051733]; cerebellar cortex development [GO:0021695]; mRNA 3'-end processing [GO:0031124]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; siRNA loading onto RISC involved in RNA interference [GO:0035087]; targeting of mRNA for destruction involved in RNA interference [GO:0030423]; termination of RNA polymerase II transcription [GO:0006369]; tRNA splicing, via endonucleolytic cleavage and ligation [GO:0006388]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92989-1; Sequence=Displayed; Name=2; IsoId=Q92989-2; Sequence=VSP_041164; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03035, ECO:0000269|PubMed:11060040, ECO:0000269|PubMed:24766810}.


uniprotID: P78537
geneSymbol: BLOC1S1
reactome: R-HSA-432720;R-HSA-432722;
length: 153
go: ENSG00000135441;
name:
Biogenesis of lysosome-related organelles complex 1 subunit 1 (BLOC-1 subunit 1) (GCN5-like protein 1) (Protein RT14)

sequence:
MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQEKRRREAITAATCLTEALVDHLNVGVAQAYMNQRKLDHEVKTLQVQAAQFAKQTGQWIGMVENFNQALKEIGDVENWARSIELDMRTIATALEYVYKGQLQSAPS

opentargets:
axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; BORC complex [GO:0099078]; cytosol [GO:0005829]; extracellular space [GO:0005615]; lysosomal membrane [GO:0005765]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; aerobic respiration [GO:0009060]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; endosomal transport [GO:0016197]; lysosome localization [GO:0032418]; melanosome organization [GO:0032438]; neuron projection development [GO:0031175]; peptidyl-lysine acetylation [GO:0018394]; platelet dense granule organization [GO:0060155]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=P78537-1; Sequence=Displayed; Name=2; IsoId=P78537-2; Sequence=VSP_040954; Note=May be produced by alternative initiation at Met-27 of isoform 1. A polymorphism at position 9 leads to the creation of a stop codon. Isoform 2 is the the only form that exists in orthologs (except primates).; 

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:22309213}. Mitochondrion matrix {ECO:0000269|PubMed:22309213}. Cytoplasm, cytosol {ECO:0000269|PubMed:22309213}. Lysosome membrane {ECO:0000305|PubMed:25898167}.


uniprotID: Q9NR09
geneSymbol: BIRC6
pdb: 3CEG;
length: 4857
name:
Baculoviral IAP repeat-containing protein 6 (EC 2.3.2.27) (BIR repeat-containing ubiquitin-conjugating enzyme) (BRUCE) (RING-type E3 ubiquitin transferase BIRC6) (Ubiquitin-conjugating BIR domain enzyme apollon) (APOLLON)

sequence:

opentargets:
endosome [GO:0005768]; Flemming body [GO:0090543]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; nucleus [GO:0005634]; spindle pole [GO:0000922]; trans-Golgi network [GO:0005802]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin-protein transferase activity [GO:0004842]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; cell division [GO:0051301]; labyrinthine layer development [GO:0060711]; negative regulation of apoptotic process [GO:0043066]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; protein ubiquitination [GO:0016567]; regulation of cell proliferation [GO:0042127]; regulation of cytokinesis [GO:0032465]; spongiotrophoblast layer development [GO:0060712]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:18329369}. Endosome {ECO:0000269|PubMed:18329369}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:18329369}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18329369}. Midbody, Midbody ring {ECO:0000269|PubMed:18329369}. Note=Exhibits cell cycle-dependent localization. Concentrates in a pericentriolar compartment in interphase, moves partially to spindle poles in metaphase, and finally localizes to the spindle midzone and the midbody in telophase and during cytokinesis. On the midbody, localizes to the midbody ring, also called Flemming body (PubMed:18329369). In interphase cells, localizes to the trans-Golgi network membrane and endosomes. During cytokinesis, a fraction moves to the midzone where it specifically arrives at the midbody ring. After abscission completion, travels with the midbody remnant into one daughter cell, and remains bound to it until a new midbody ring is formed during the next cell division (PubMed:18329369). {ECO:0000269|PubMed:18329369}.


uniprotID: Q96CA5
geneSymbol: BIRC7
pdb: 1OXN;1OXQ;1OY7;1TW6;2I3H;2I3I;3F7G;3F7H;3F7I;3GT9;3GTA;3UW5;4AUQ;
length: 298
go: ENSG00000101197;
snps: rs1077019
name:
Baculoviral IAP repeat-containing protein 7 (EC 2.3.2.27) (Kidney inhibitor of apoptosis protein) (KIAP) (Livin) (Melanoma inhibitor of apoptosis protein) (ML-IAP) (RING finger protein 50) (RING-type E3 ubiquitin transferase BIRC7) [Cleaved into: Baculoviral IAP repeat-containing protein 7 30kDa subunit (Truncated livin) (p30-Livin) (tLivin)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; enzyme binding [GO:0019899]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; activation of JUN kinase activity [GO:0007257]; inhibition of cysteine-type endopeptidase activity involved in apoptotic process [GO:1990001]; negative regulation of apoptotic process [GO:0043066]; protein ubiquitination [GO:0016567]; regulation of cell proliferation [GO:0042127]; regulation of natural killer cell apoptotic process [GO:0070247]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=Livin alpha; IsoId=Q96CA5-1; Sequence=Displayed; Name=1; Synonyms=Livin beta; IsoId=Q96CA5-2; Sequence=VSP_002459; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17294084}. Cytoplasm {ECO:0000269|PubMed:17294084}. Golgi apparatus {ECO:0000269|PubMed:17294084}. Note=Nuclear, and in a filamentous pattern throughout the cytoplasm. Full-length livin is detected exclusively in the cytoplasm, whereas the truncated form (tLivin) is found in the peri-nuclear region with marked localization to the Golgi apparatus; the accumulation of tLivin in the nucleus shows positive correlation with the increase in apoptosis.


uniprotID: Q5SYC1
geneSymbol: CLVS2
reactome: R-HSA-432720;
name: Clavesin-2 (Retinaldehyde-binding protein 1-like 2) (clathrin vesicle-associated Sec14 protein 2)
length: 327
go: ENSG00000146352;
sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; lysosome organization [GO:0007040]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SYC1-1; Sequence=Displayed; Name=2; IsoId=Q5SYC1-2; Sequence=VSP_027325; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250}. Early endosome membrane {ECO:0000269|PubMed:19651769}; Peripheral membrane protein {ECO:0000269|PubMed:19651769}.


uniprotID: A4D250
geneSymbol: BLACE
name: B-cell acute lymphoblastic leukemia-expressed protein
length: 179
sequence:
MMKDIIPASSWASEESTDLQNGSFPLSVAPRSEFPRRRALEDWLLSVFLADQAESEGQLVLERVRDTPPPVTSPRGDGICVSRGKAPSSPGGSTHAWLYLTRHFPWSPFPHGGWTDTSEPCVLETLGGSSLAALRGNSLWVQSSGACAFCVYESLIEQSLPNERFEELLLGPSPGEVMK


uniprotID: Q13867
geneSymbol: BLMH
reactome: R-HSA-983168;
pdb: 1CB5;2CB5;
name: Bleomycin hydrolase (BH) (BLM hydrolase) (BMH) (EC 3.4.22.40)
length: 455
go: ENSG00000108578;
drug: DB00290;
snps: rs1050565
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; aminopeptidase activity [GO:0004177]; carboxypeptidase activity [GO:0004180]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; identical protein binding [GO:0042802]; homocysteine catabolic process [GO:0043418]; protein polyubiquitination [GO:0000209]; proteolysis [GO:0006508]; response to drug [GO:0042493]; response to toxic substance [GO:0009636]


uniprotID: P30043
geneSymbol: BLVRB
reactome: R-HSA-189483;
pdb: 1HDO;1HE2;1HE3;1HE4;1HE5;5OOG;5OOH;
length: 206
go: ENSG00000090013;
drug: DB03461;DB02073;DB04363;DB00157;DB00140;DB03247;
snps: rs11547746
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7929092}.
name:
Flavin reductase (NADPH) (FR) (EC 1.5.1.30) (Biliverdin reductase B) (BVR-B) (EC 1.3.1.24) (Biliverdin-IX beta-reductase) (Green heme-binding protein) (GHBP) (NADPH-dependent diaphorase) (NADPH-flavin reductase) (FLR)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; terminal bouton [GO:0043195]; biliverdin reductase activity [GO:0004074]; riboflavin reductase (NADPH) activity [GO:0042602]; heme catabolic process [GO:0042167]


uniprotID: Q5H9B9
geneSymbol: BMP2KL
name: Putative BMP-2-inducible kinase-like protein
length: 411
sequence:


uniprotID: P56277
geneSymbol: CMC4
reactome: R-HSA-1268020;
pdb: 1EI0;1HP8;2HP8;
sequence: MPQKDPCQKQACEIQKCLQANSYMESKCQAVIQELRKCCAQYPKGRSVVCSGFEKEEEENLTRKSASK
length: 68
go: ENSG00000182712;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:7784073}.
name:
Cx9C motif-containing protein 4 (Mature T-cell proliferation 1 neighbor protein) (Mature T-cell proliferation-1 type A) (MTCP-1 type A) (Protein p8 MTCP-1) (p8MTCP1)

opentargets:
mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; cell proliferation [GO:0008283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Short, Type A, p8 MTCP1; IsoId=P56277-1; Sequence=Displayed; Note=Shares a non-coding 5' exon with isoform 2 which is spliced to a different set of 3' exons encoding an unrelated protein.; Name=2; Synonyms=Long, Type B1, p13 MTCP1; IsoId=P56278-1; Sequence=External; Note=Shares a non-coding 5' exon with isoform 1 which is spliced to a different set of 3' exons encoding an unrelated protein.; 


uniprotID: Q7Z5W3
geneSymbol: BCDIN3D
reactome: R-HSA-203927;
name: Pre-miRNA 5'-monophosphate methyltransferase (EC 2.1.1.-) (BCDIN3 domain-containing protein)
length: 292
go: ENSG00000186666;
snps: rs11169172
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23063121}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; O-methyltransferase activity [GO:0008171]; RNA methyltransferase activity [GO:0008173]; miRNA metabolic process [GO:0010586]; negative regulation of pre-miRNA processing [GO:2000632]; RNA methylation [GO:0001510]


uniprotID: Q01954
geneSymbol: BNC1
name: Zinc finger protein basonuclin-1
length: 994
go: ENSG00000169594;
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; 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 differentiation [GO:0030154]; epidermis development [GO:0008544]; positive regulation of cell proliferation [GO:0008284]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16891417, ECO:0000269|PubMed:8034748, ECO:0000269|PubMed:9223293}. Cytoplasm {ECO:0000269|PubMed:9223293}. Nucleus, nucleoplasm {ECO:0000269|PubMed:16891417}. Note=Relocates to the midpiece of the flagellum during late spermiogenesis in spermatids. {ECO:0000250|UniProtKB:O35914}.


uniprotID: Q6QNY1
geneSymbol: BLOC1S2
length: 142
go: ENSG00000196072;
snps: rs33965491
name:
Biogenesis of lysosome-related organelles complex 1 subunit 2 (BLOC-1 subunit 2) (Centrosome-associated protein)

sequence:
MAAAAEGVLATRSDEPARDDAAVETAEEAKEPAEADITELCRDMFSKMATYLTGELTATSEDYKLLENMNKLTSLKYLEMKDIAINISRNLKDLNQKYAGLQPYLDQINVIEEQVAALEQAAYKLDAYSKKLEAKYKKLEKR

opentargets:
axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; BORC complex [GO:0099078]; centrosome [GO:0005813]; gamma-tubulin complex [GO:0000930]; lysosomal membrane [GO:0005765]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; gamma-tubulin binding [GO:0043015]; protein C-terminus binding [GO:0008022]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; endosomal transport [GO:0016197]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; lysosome localization [GO:0032418]; melanosome organization [GO:0032438]; microtubule nucleation [GO:0007020]; mitochondrial outer membrane permeabilization [GO:0097345]; neuron projection development [GO:0031175]; platelet dense granule organization [GO:0060155]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Ceap-16; IsoId=Q6QNY1-1; Sequence=Displayed; Name=2; Synonyms=Ceap-11; IsoId=Q6QNY1-2; Sequence=VSP_018350; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15381421}. Lysosome membrane {ECO:0000305|PubMed:25898167}. Note=Localizes to the centrosomes in a microtubule-dependent manner. {ECO:0000269|PubMed:15381421}.


uniprotID: P51813
geneSymbol: BMX
reactome: R-HSA-111465;R-HSA-1660499;
pdb: 2EKX;2YS2;3SXR;3SXS;
length: 675
go: ENSG00000102010;
snps: rs35353387 rs1029888196
name:
Cytoplasmic tyrosine-protein kinase BMX (EC 2.7.10.2) (Bone marrow tyrosine kinase gene in chromosome X protein) (Epithelial and endothelial tyrosine kinase) (ETK) (NTK38)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein tyrosine kinase activity [GO:0004713]; adaptive immune response [GO:0002250]; apoptotic process [GO:0006915]; B cell receptor signaling pathway [GO:0050853]; cell adhesion [GO:0007155]; intracellular signal transduction [GO:0035556]; mesoderm development [GO:0007498]; peptidyl-tyrosine autophosphorylation [GO:0038083]; phosphatidylinositol biosynthetic process [GO:0006661]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12832404}. Note=Localizes to the edges of spreading cells when complexed with BCAR1.


uniprotID: Q53S33
geneSymbol: BOLA3
pdb: 2NCL;
name: BolA-like protein 3
length: 107
go: ENSG00000163170;
snps: rs550855238 rs148674363
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22746225}.
sequence:
MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGGCGAMYEIKIESEEFKEKRTVQQHQMVNQALKEEIKEMHGLRIFTSVPKR

opentargets:
mitochondrion [GO:0005739]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53S33-1; Sequence=Displayed; Name=2; IsoId=Q53S33-2; Sequence=VSP_045787; Note=No experimental confirmation available.; 


uniprotID: Q86WA6
geneSymbol: BPHL
reactome: R-HSA-211945;
pdb: 2OCG;2OCI;2OCK;2OCL;
length: 291
go: ENSG00000137274;
drug: DB03380;
name:
Valacyclovir hydrolase (VACVase) (Valacyclovirase) (EC 3.1.-.-) (Biphenyl hydrolase-like protein) (Biphenyl hydrolase-related protein) (Bph-rp) (Breast epithelial mucin-associated antigen) (MCNAA)

sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; alpha-amino-acid esterase activity [GO:0047658]; cellular amino acid metabolic process [GO:0006520]; response to toxic substance [GO:0009636]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Beta; IsoId=Q86WA6-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q86WA6-2; Sequence=VSP_009115; 


uniprotID: Q53HL2
geneSymbol: CDCA8
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-4615885;R-HSA-5663220;R-HSA-68877;
pdb: 2KDD;2QFA;2RAW;2RAX;
length: 280
go: ENSG00000134690;
snps: rs17851453
name:
Borealin (Cell division cycle-associated protein 8) (Dasra-B) (hDasra-B) (Pluripotent embryonic stem cell-related gene 3 protein)

sequence:

opentargets:
chromocenter [GO:0010369]; chromosome passenger complex [GO:0032133]; chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; midbody [GO:0030496]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; spindle midzone [GO:0051233]; cell division [GO:0051301]; chromosome organization [GO:0051276]; mitotic metaphase plate congression [GO:0007080]; mitotic sister chromatid segregation [GO:0000070]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:18946085}. Cytoplasm {ECO:0000269|PubMed:18946085}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15561729}. Chromosome, centromere {ECO:0000269|PubMed:20739936}. Note=Localizes on chromosome arms and inner centromeres from prophase through metaphase and then transferring to the spindle midzone and midbody from anaphase through cytokinesis. Colocalizes with SENP3 in the nucleolus in interphase cells. {ECO:0000269|PubMed:18946085}.


uniprotID: Q5U4P2
geneSymbol: ASPHD1
name: Aspartate beta-hydroxylase domain-containing protein 1 (EC 1.14.11.-)
length: 390
go: ENSG00000174939;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; peptide-aspartate beta-dioxygenase activity [GO:0004597]; peptidyl-aspartic acid hydroxylation [GO:0042264]


uniprotID: Q9H305
geneSymbol: CDIP1
length: 208
go: ENSG00000089486;
name:
Cell death-inducing p53-target protein 1 (Cell death involved p53-target) (Cell death-inducing protein) (LITAF-like protein) (Lipopolysaccharide-induced tumor necrosis factor-alpha-like protein) (Transmembrane protein I1)

sequence:

opentargets:
cytoplasmic side of late endosome membrane [GO:0098560]; cytoplasmic side of lysosomal membrane [GO:0098574]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; apoptotic process [GO:0006915]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H305-1; Sequence=Displayed; Name=2; IsoId=Q9H305-2; Sequence=VSP_046929; Note=No experimental confirmation available. May be due to competing acceptor splice site.; Name=3; IsoId=Q9H305-3; Sequence=VSP_046928; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:27582497}; Peripheral membrane protein {ECO:0000269|PubMed:27582497}; Cytoplasmic side {ECO:0000269|PubMed:27582497}. Lysosome membrane {ECO:0000269|PubMed:27582497}; Peripheral membrane protein {ECO:0000269|PubMed:27582497}; Cytoplasmic side {ECO:0000269|PubMed:27582497}.


uniprotID: Q07002
geneSymbol: CDK18
length: 474
go: ENSG00000117266;
snps: rs35134237 rs4623769 rs17850752
name:
Cyclin-dependent kinase 18 (EC 2.7.11.22) (Cell division protein kinase 18) (PCTAIRE-motif protein kinase 3) (Serine/threonine-protein kinase PCTAIRE-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein serine/threonine kinase activity [GO:0004674]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=3a {ECO:0000303|PubMed:15019984}; IsoId=Q07002-2; Sequence=Displayed; Name=2; Synonyms=3b {ECO:0000303|PubMed:15019984}; IsoId=Q07002-3; Sequence=VSP_035889; 


uniprotID: O75129
geneSymbol: ASTN2
pdb: 5J67;5J68;5J69;
name: Astrotactin-2
length: 1339
go: ENSG00000148219;
snps: rs16933591 rs3818503 rs16933591
sequence:

opentargets:
cell cortex [GO:0005938]; cell pole [GO:0060187]; clathrin-coated vesicle [GO:0030136]; early endosome [GO:0005769]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; perikaryon [GO:0043204]; calcium ion binding [GO:0005509]; inositol 1,3,4,5 tetrakisphosphate binding [GO:0043533]; establishment of body hair planar orientation [GO:0048105]; negative regulation of protein localization to cell surface [GO:2000009]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O75129-1; Sequence=Displayed; Name=2; IsoId=O75129-2; Sequence=VSP_028932; Name=3; IsoId=O75129-3; Sequence=VSP_028933; Name=4; IsoId=O75129-4; Sequence=VSP_028931, VSP_028934; Note=No experimental confirmation available.; Name=6; IsoId=O75129-6; Sequence=VSP_028930, VSP_028937; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q80Z10}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q80Z10}. Perikaryon {ECO:0000250|UniProtKB:Q80Z10}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q80Z10}. Early endosome {ECO:0000250|UniProtKB:Q80Z10}. Late endosome {ECO:0000250|UniProtKB:Q80Z10}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250|UniProtKB:Q80Z10}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:Q80Z10}. Note=Integral membrane protein not detected at the cell membrane. Detected in cytoplasmic vesicles in the cell cortex, close to the anterior pole of migrating neurons. Detected at the base of the leading process in migrating neurons. {ECO:0000250|UniProtKB:Q80Z10}.


uniprotID: L0R819
geneSymbol: ASDURF
sequence: MPSRGTRPEDSSVLIPTDNSTPHKEDLSSKIKEQKIVVDELSNLKKNRKVYRQQQNSNIFFLADRTEMLSESKNILDELKKEYQEIENLDKTKIKK
length: 96
go: ENSG00000138381;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23160002}.
name:
ASNSD1 upstream open reading frame protein (ASNSD1 small/short open reading frame-encoded polypeptide) (ASNSD1-SEP)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=2; Synonyms=uORF {ECO:0000303|PubMed:23160002}; IsoId=L0R819-1; Sequence=Displayed; Note=Product of the upstream open reading frame of this bicistronic gene. {ECO:0000303|PubMed:23160002, ECO:0000303|PubMed:23950983, ECO:0000303|PubMed:25857697}; Name=1; IsoId=Q9NWL6-1; Sequence=External; 


uniprotID: Q8IUZ5
geneSymbol: PHYKPL
reactome: R-HSA-1442490;R-HSA-71064;
length: 450
go: ENSG00000175309;
drug: DB00160;DB00114;
snps: rs7707147 rs201105857 rs142181517
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
5-phosphohydroxy-L-lysine phospho-lyase (EC 4.2.3.134) (Alanine--glyoxylate aminotransferase 2-like 2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; identical protein binding [GO:0042802]; lyase activity [GO:0016829]; pyridoxal phosphate binding [GO:0030170]; transaminase activity [GO:0008483]; collagen catabolic process [GO:0030574]; lysine catabolic process [GO:0006554]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IUZ5-1; Sequence=Displayed; Name=2; IsoId=Q8IUZ5-2; Sequence=VSP_025585; Name=3; IsoId=Q8IUZ5-3; Sequence=VSP_025584; 


uniprotID: O60423
geneSymbol: ATP8B3
reactome: R-HSA-936837;
name: Phospholipid-transporting ATPase IK (EC 7.6.2.1) (ATPase class I type 8B member 3)
length: 1300
go: ENSG00000130270;
snps: rs7250872 rs8100856
sequence:

opentargets:
acrosomal membrane [GO:0002080]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; binding of sperm to zona pellucida [GO:0007339]; Golgi organization [GO:0007030]; phospholipid translocation [GO:0045332]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60423-2; Sequence=Displayed; Name=2; IsoId=O60423-1; Sequence=VSP_039716; Note=No experimental confirmation available.; Name=3; IsoId=O60423-3; Sequence=VSP_043554, VSP_043555, VSP_039716; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome membrane {ECO:0000250|UniProtKB:Q6UQ17}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:20947505}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8TF62
geneSymbol: ATP8B4
reactome: R-HSA-6798695;R-HSA-936837;
length: 1192
go: ENSG00000104043;
snps: rs16963151 rs2452524 rs16962989 rs16962987
name:
Probable phospholipid-transporting ATPase IM (EC 7.6.2.1) (ATPase class I type 8B member 4) (P4-ATPase flippase complex alpha subunit ATP8B4)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; Golgi organization [GO:0007030]; neutrophil degranulation [GO:0043312]; phospholipid translocation [GO:0045332]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20947505}; Multi-pass membrane protein {ECO:0000269|PubMed:20947505}. Golgi apparatus {ECO:0000269|PubMed:20947505}.


uniprotID: Q92858
geneSymbol: ATOH1
length: 354
go: ENSG00000172238;
snps: rs35182771
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Protein atonal homolog 1 (Class A basic helix-loop-helix protein 14) (bHLHa14) (Helix-loop-helix protein hATH-1) (hATH1)

sequence:

opentargets:
nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; auditory receptor cell fate determination [GO:0042668]; auditory receptor cell fate specification [GO:0042667]; axon guidance [GO:0007411]; central nervous system development [GO:0007417]; cerebral cortex development [GO:0021987]; inner ear morphogenesis [GO:0042472]; negative regulation of apoptotic process [GO:0043066]; neuron migration [GO:0001764]; Notch signaling pathway [GO:0007219]; positive regulation of inner ear auditory receptor cell differentiation [GO:0045609]; positive regulation of neuron differentiation [GO:0045666]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q86TH1
geneSymbol: ADAMTSL2
reactome: R-HSA-5083635;R-HSA-5173214;
name: ADAMTS-like protein 2 (ADAMTSL-2)
length: 951
go: ENSG00000197859;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; microfibril binding [GO:0050436]; peptidase activity [GO:0008233]; extracellular matrix organization [GO:0030198]; lobar bronchus epithelium development [GO:0060481]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]

snps:
rs387907064 rs113994122 rs113994123 rs113994121 rs776178041 rs764516811 rs387907065 rs35767802 rs113994124 rs969732840 


uniprotID: Q96T59
geneSymbol: CDRT15
name: CMT1A duplicated region transcript 15 protein
length: 188
go: ENSG00000223510;
snps: rs17679866
sequence:
MFSCCFPTSRGCCFRNGGSESLFRRCRRRLIPHPRRLSPVVIRRIQVPQDSLGQALAGQATPEIPLGLQLHTVLVQEIQELIEAQTLAPGPCAEVRALPAPAAEPEPAWEEAPPERALELEGAPAKDQTNEELPEITEVPESIKRRLGRRVPAATPAPRGNLLLQAWMRVHSWASRLFAPNVLPGTGP


uniprotID: P06576
geneSymbol: ATP5F1B
reactome: R-HSA-1268020;R-HSA-163210;R-HSA-2151201;R-HSA-8949613;
name: ATP synthase subunit beta, mitochondrial (EC 7.1.2.2) (ATP synthase F1 subunit beta)
length: 529
go: ENSG00000110955;
drug: DB07384;DB07394;DB08399;DB04216;
snps: rs1042001
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrial nucleoid [GO:0042645]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase, catalytic core [GO:0005754]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; proton-transporting ATP synthase complex [GO:0045259]; angiostatin binding [GO:0043532]; ATP binding [GO:0005524]; MHC class I protein binding [GO:0042288]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; proton-transporting ATPase activity, rotational mechanism [GO:0046961]; transmembrane transporter activity [GO:0022857]; transporter activity [GO:0005215]; angiogenesis [GO:0001525]; ATP biosynthetic process [GO:0006754]; cristae formation [GO:0042407]; generation of precursor metabolites and energy [GO:0006091]; lipid metabolic process [GO:0006629]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; mitochondrion organization [GO:0007005]; negative regulation of cell adhesion involved in substrate-bound cell migration [GO:0006933]; osteoblast differentiation [GO:0001649]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; proton transmembrane transport [GO:1902600]; regulation of intracellular pH [GO:0051453]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P00829}; Peripheral membrane protein {ECO:0000250|UniProtKB:P00829}; Matrix side {ECO:0000250|UniProtKB:P00829}.


uniprotID: Q96MT8
geneSymbol: CEP63
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Centrosomal protein of 63 kDa (Cep63)
length: 703
go: ENSG00000182923;
snps: rs1127826
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; spindle pole [GO:0000922]; cell division [GO:0051301]; centriole replication [GO:0007099]; ciliary basal body-plasma membrane docking [GO:0097711]; de novo centriole assembly involved in multi-ciliated epithelial cell differentiation [GO:0098535]; DNA damage checkpoint [GO:0000077]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; signal transduction in response to DNA damage [GO:0042770]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96MT8-1; Sequence=Displayed; Name=2; IsoId=Q96MT8-2; Sequence=VSP_012252; Name=3; IsoId=Q96MT8-3; Sequence=VSP_012251, VSP_012252; Name=4; IsoId=Q96MT8-4; Sequence=VSP_012251, VSP_012253, VSP_012254; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:26297806}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:26297806}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:24613305}. Note=Colocalizes with CDK5RAP2, CEP152 and WDR62 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. {ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:26297806}.


uniprotID: Q76N32
geneSymbol: CEP68
name: Centrosomal protein of 68 kDa (Cep68)
length: 757
go: ENSG00000011523;
snps: rs12611491 rs7572857 rs35501092 rs35694840 rs35089924
sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; centriole-centriole cohesion [GO:0010457]; centrosome cycle [GO:0007098]; protein localization to organelle [GO:0033365]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q76N32-1; Sequence=Displayed; Name=2; IsoId=Q76N32-2; Sequence=VSP_013476; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:18042621, ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:25704143}. Note=Localizes to thin fibers protruding away from the proximal ends of the two centrioles. Dissociates from interphase centrosomes at the onset of mitosis. {ECO:0000269|PubMed:18042621, ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:25704143}.


uniprotID: Q5JTW2
geneSymbol: CEP78
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Centrosomal protein of 78 kDa (Cep78)
length: 689
go: ENSG00000148019;
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium organization [GO:0044782]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5JTW2-1; Sequence=Displayed; Name=2; IsoId=Q5JTW2-2; Sequence=VSP_026321, VSP_026322, VSP_026323; Note=No experimental confirmation available.; Name=3; IsoId=Q5JTW2-3; Sequence=VSP_026322; Note=Gene prediction based on EST data. No experimental confirmation available.; Name=4; IsoId=Q5JTW2-5; Sequence=VSP_026321, VSP_026323; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:27246242}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:27588451}. Note=Mainly localizes at the centriolar wall, but also found in the pericentriolar material (PubMed:27246242). Expressed in photoreceptor inner segment (PubMed:27588452). {ECO:0000269|PubMed:27246242, ECO:0000269|PubMed:27588452}.


uniprotID: Q9Y6K0
geneSymbol: CEPT1
reactome: R-HSA-1483191;R-HSA-1483213;
name: Choline/ethanolaminephosphotransferase 1 (hCEPT1) (EC 2.7.8.1) (EC 2.7.8.2)
length: 416
go: ENSG00000134255;
drug: DB00122;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; diacylglycerol cholinephosphotransferase activity [GO:0004142]; ethanolaminephosphotransferase activity [GO:0004307]; metal ion binding [GO:0046872]; phosphotransferase activity, for other substituted phosphate groups [GO:0016780]; lipid metabolic process [GO:0006629]; phosphatidylcholine biosynthetic process [GO:0006656]; phosphatidylethanolamine biosynthetic process [GO:0006646]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12221122}; Multi-pass membrane protein {ECO:0000269|PubMed:12221122}. Nucleus membrane {ECO:0000269|PubMed:12221122}; Multi-pass membrane protein {ECO:0000269|PubMed:12221122}.


uniprotID: P00450
geneSymbol: CP
reactome: R-HSA-381426;R-HSA-425410;R-HSA-5619060;R-HSA-8957275;R-HSA-917937;
pdb: 1KCW;2J5W;4EJX;4ENZ;
name: Ceruloplasmin (EC 1.16.3.1) (Ferroxidase)
length: 1065
drug: DB00055;
snps: rs34624984 rs35331711 rs701753 rs56033670
sequence:

opentargets:
blood microparticle [GO:0072562]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosomal membrane [GO:0005765]; chaperone binding [GO:0051087]; copper ion binding [GO:0005507]; ferroxidase activity [GO:0004322]; oxidoreductase activity, oxidizing metal ions [GO:0016722]; cellular iron ion homeostasis [GO:0006879]; cellular protein metabolic process [GO:0044267]; copper ion transport [GO:0006825]; post-translational protein modification [GO:0043687]

location:
SUBCELLULAR LOCATION: Secreted. Note=Colocalizes with GCP1 in secretory intracellular compartments. {ECO:0000250}.


uniprotID: O15182
geneSymbol: CETN3
name: Centrin-3
length: 167
go: ENSG00000153140;
snps: rs4873
sequence:
MSLALRSELVVDKTKRKKRRELSEEQKQEIKDAFELFDTDKDEAIDYHELKVAMRALGFDVKKADVLKILKDYDREATGKITFEDFNEVVTDWILERDPHEEILKAFKLFDDDDSGKISLRNLRRVARELGENMSDEELRAMIEEFDKDGDGEINQEEFIAIMTGDI

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; half bridge of spindle pole body [GO:0005825]; nucleolus [GO:0005730]; nucleus [GO:0005634]; transcription export complex 2 [GO:0070390]; calcium ion binding [GO:0005509]; microtubule binding [GO:0008017]; calcium-mediated signaling [GO:0019722]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; microtubule nucleation [GO:0007020]; mitotic spindle pole body duplication [GO:1903087]; spindle pole body duplication [GO:0030474]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:9256449}. Nucleus, nucleolus {ECO:0000303|PubMed:22307388}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:26337392}. Note=Centrosome of interphase and mitotic cells (PubMed:9256449). Localizes to centriole distal lumen (PubMed:26337392). {ECO:0000269|PubMed:26337392, ECO:0000269|PubMed:9256449}.


uniprotID: P36542
geneSymbol: ATP5F1C
reactome: R-HSA-163210;R-HSA-8949613;
name: ATP synthase subunit gamma, mitochondrial (ATP synthase F1 subunit gamma) (F-ATPase gamma subunit)
length: 298
go: ENSG00000165629;
drug: DB07384;DB07394;DB08399;DB04216;
sequence:

opentargets:
membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) [GO:0000275]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; RNA binding [GO:0003723]; transmembrane transporter activity [GO:0022857]; ATP biosynthetic process [GO:0006754]; ATP synthesis coupled proton transport [GO:0015986]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; oxidative phosphorylation [GO:0006119]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Liver; Synonyms=L; IsoId=P36542-1; Sequence=Displayed; Name=Heart; Synonyms=H; IsoId=P36542-2; Sequence=VSP_000439; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P05631}; Peripheral membrane protein {ECO:0000250|UniProtKB:P05631}; Matrix side {ECO:0000250|UniProtKB:P05631}.


uniprotID: Q4VX62
geneSymbol: C6orf99
name: Putative uncharacterized protein C6orf99
length: 202
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4VX62-1; Sequence=Displayed; Note=Gene prediction based on EST data. No experimental confirmation available.; Name=2; IsoId=Q4VX62-2; Sequence=VSP_035305; Note=Gene prediction based on EST data. No experimental confirmation available.; 


uniprotID: Q5T0Z8
geneSymbol: C6orf132
name: Uncharacterized protein C6orf132
length: 1188
go: ENSG00000188112;
snps: rs9688934
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T0Z8-1; Sequence=Displayed; Name=2; IsoId=Q5T0Z8-2; Sequence=VSP_034432, VSP_034433; Note=No experimental confirmation available.; Name=3; IsoId=Q5T0Z8-4; Sequence=VSP_040816, VSP_040817; 


uniprotID: Q6ZTY9
geneSymbol: C7orf65
name: Uncharacterized protein C7orf65
length: 151
sequence:
MRMAPTESTEGRRLWPGPREGGSGKETTSEKLSNLPRPHSYSPKRADAESFRGVPAAFKKCREVFRACWGSRELLFLFKAISEAGPAQNSCGITLEKAGGLEDTGSHWLSWARCKVLYINGFTDPWKDAQAWILIVSCKKGKGTPEREGRN


uniprotID: Q8WXE1
geneSymbol: ATRIP
reactome: R-HSA-176187;R-HSA-5685938;R-HSA-5693607;R-HSA-5693616;R-HSA-6783310;R-HSA-6804756;R-HSA-69473;
pdb: 4IGK;4NB3;5YZ0;
name: ATR-interacting protein (ATM and Rad3-related-interacting protein)
length: 791
go: ENSG00000164053;
snps: rs11925638 rs35240314
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; K63-linked polyubiquitin modification-dependent protein binding [GO:0070530]; DNA damage checkpoint [GO:0000077]; DNA replication [GO:0006260]; interstrand cross-link repair [GO:0036297]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8WXE1-1; Sequence=Displayed; Name=2; IsoId=Q8WXE1-2; Sequence=VSP_010504; Name=3; IsoId=Q8WXE1-3; Sequence=VSP_010501; Note=No experimental confirmation available.; Name=4; IsoId=Q8WXE1-5; Sequence=VSP_047011; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11721054, ECO:0000269|PubMed:18283122}. Note=Redistributes to discrete nuclear foci upon DNA damage.


uniprotID: Q5VV63
geneSymbol: ATRNL1
name: Attractin-like protein 1
length: 1379
go: ENSG00000107518;
snps: rs1953758
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VV63-1; Sequence=Displayed; Name=2; IsoId=Q5VV63-2; Sequence=VSP_033718, VSP_033719; Note=No experimental confirmation available.; 


uniprotID: Q9UKP5
geneSymbol: ADAMTS6
reactome: R-HSA-5083635;R-HSA-5173214;
length: 1117
go: ENSG00000049192;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 6 (ADAM-TS 6) (ADAM-TS6) (ADAMTS-6) (EC 3.4.24.-)

sequence:

opentargets:
extracellular region [GO:0005576]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; aorta development [GO:0035904]; cardiac septum development [GO:0003279]; coronary vasculature development [GO:0060976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Variant 2; IsoId=Q9UKP5-1; Sequence=Displayed; Name=2; Synonyms=Variant 1; IsoId=Q9UKP5-2; Sequence=VSP_037095, VSP_037098, VSP_037099; Note=Contains critical point mutations in the region encoding the catalytic domain as well as 2 point mutations compared with genomic sequence. May either be a rare polymorphism or may have arisen through a combination of aberrant RNA editing and point mutation/sequencing error.; Name=3; Synonyms=Variant 3; IsoId=Q9UKP5-3; Sequence=VSP_037096, VSP_037097; Name=4; Synonyms=Variant 4; IsoId=Q9UKP5-4; Sequence=VSP_037093, VSP_037094; 


uniprotID: Q9UKP4
geneSymbol: ADAMTS7
reactome: R-HSA-5083635;R-HSA-5173214;
length: 1686
go: ENSG00000136378;
snps: rs3825807 rs2127898 rs11630236 rs2929155 rs7495616
name:
A disintegrin and metalloproteinase with thrombospondin motifs 7 (ADAM-TS 7) (ADAM-TS7) (ADAMTS-7) (EC 3.4.24.-) (COMPase)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; cellular response to BMP stimulus [GO:0071773]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; negative regulation of chondrocyte differentiation [GO:0032331]; proteolysis involved in cellular protein catabolic process [GO:0051603]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Also found associated with the external cell surface. {ECO:0000250}.


uniprotID: Q9P2N4
geneSymbol: ADAMTS9
reactome: R-HSA-1474228;R-HSA-5083635;R-HSA-5173214;
length: 1935
go: ENSG00000163638;
snps: rs36115950 rs36115950 rs17071010 rs6787633 rs17070967 rs3796381 rs17070909 rs17070905
name:
A disintegrin and metalloproteinase with thrombospondin motifs 9 (ADAM-TS 9) (ADAM-TS9) (ADAMTS-9) (EC 3.4.24.-)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; aorta morphogenesis [GO:0035909]; endothelial cell-matrix adhesion [GO:0090673]; extracellular matrix organization [GO:0030198]; glycoprotein catabolic process [GO:0006516]; heart valve morphogenesis [GO:0003179]; multicellular organism development [GO:0007275]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of sprouting angiogenesis [GO:1903671]; positive regulation of melanocyte differentiation [GO:0045636]; protein transport [GO:0015031]; proteolysis [GO:0006508]; response to bacterium [GO:0009617]; ventricular cardiac muscle tissue development [GO:0003229]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=ADAMTS-9B; IsoId=Q9P2N4-3; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=Q9P2N4-1; Sequence=VSP_007548, VSP_007549; Note=May result from the retention of an intron in the cDNA leading to a prematurate stop codon.; Name=3; Synonyms=Short; IsoId=Q9P2N4-2; Sequence=VSP_005499, VSP_005500; Name=4; IsoId=Q9P2N4-4; Sequence=VSP_053399; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12514189}. Endoplasmic reticulum {ECO:0000269|PubMed:22419820}.


uniprotID: Q8TE60
geneSymbol: ADAMTS18
reactome: R-HSA-1474228;R-HSA-5083635;R-HSA-5173214;
length: 1221
go: ENSG00000140873;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 18 (ADAM-TS 18) (ADAM-TS18) (ADAMTS-18) (EC 3.4.24.-)

sequence:

opentargets:
extracellular region [GO:0005576]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; eye development [GO:0001654]; negative regulation of platelet aggregation [GO:0090331]

snps:
rs387906972 rs11643211 rs397515468 rs368783738 rs776584074 rs148319220 rs11640912 rs9930984 rs12935394 rs35478105 rs3743749 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TE60-1; Sequence=Displayed; Name=2; IsoId=Q8TE60-2; Sequence=VSP_015776, VSP_015777; Note=No experimental confirmation available.; 


uniprotID: Q8TE59
geneSymbol: ADAMTS19
reactome: R-HSA-5083635;R-HSA-5173214;
length: 1207
go: ENSG00000145808;
snps: rs10062501 rs11749126
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 19 (ADAM-TS 19) (ADAM-TS19) (ADAMTS-19) (EC 3.4.24.-)

sequence:

opentargets:
extracellular region [GO:0005576]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]


uniprotID: Q9UHI8
geneSymbol: ADAMTS1
reactome: R-HSA-1474228;R-HSA-5083635;R-HSA-5173214;
pdb: 2JIH;2V4B;3Q2G;3Q2H;
length: 967
go: ENSG00000154734;
snps: rs428785
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 1 (ADAM-TS 1) (ADAM-TS1) (ADAMTS-1) (EC 3.4.24.-) (METH-1)

sequence:

opentargets:
basement membrane [GO:0005604]; cytoplasmic vesicle [GO:0031410]; heparin binding [GO:0008201]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; heart trabecula formation [GO:0060347]; integrin-mediated signaling pathway [GO:0007229]; kidney development [GO:0001822]; negative regulation of cell proliferation [GO:0008285]; ovulation from ovarian follicle [GO:0001542]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]


uniprotID: Q9UFW8
geneSymbol: CGGBP1
length: 167
go: ENSG00000163320;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9201980}.
name:
CGG triplet repeat-binding protein 1 (CGG-binding protein 1) (20 kDa CGG-binding protein) (p20-CGGBP DNA-binding protein)

sequence:
MERFVVTAPPARNRSKTALYVTPLDRVTEFGGELHEDGGKLFCTSCNVVLNHVRKSAISDHLKSKTHTKRKAEFEEQNVRKKQRPLTASLQCNSTAQTEKVSVIQDFVKMCLEANIPLEKADHPAVRAFLSRHVKNGGSIPKSDQLRRAYLPDGYENENQLLNSQDC

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; double-stranded DNA binding [GO:0003690]; identical protein binding [GO:0042802]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: O95450
geneSymbol: ADAMTS2
reactome: R-HSA-1650814;R-HSA-5083635;R-HSA-5173214;
length: 1211
go: ENSG00000087116;
snps: rs2271211 rs11750821 rs398829 rs17667857 rs35372714 rs35445112 rs1054480
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS 2) (ADAM-TS2) (ADAMTS-2) (EC 3.4.24.14) (Procollagen I N-proteinase) (PC I-NP) (Procollagen I/II amino propeptide-processing enzyme) (Procollagen N-endopeptidase) (pNPI)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; collagen catabolic process [GO:0030574]; collagen fibril organization [GO:0030199]; lung development [GO:0030324]; protein processing [GO:0016485]; skin development [GO:0043588]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=LpNPI; IsoId=O95450-1; Sequence=Displayed; Name=SpNPI; IsoId=O95450-2; Sequence=VSP_005497, VSP_005498; Note=Has no significant N-procollagen peptidase activity.; 


uniprotID: P32929
geneSymbol: CTH
reactome: R-HSA-1614558;R-HSA-1614603;R-HSA-2408508;
pdb: 2NMP;3COG;3ELP;5EIG;5TSU;5TT2;
name: Cystathionine gamma-lyase (EC 4.4.1.1) (Cysteine-protein sulfhydrase) (Gamma-cystathionase)
length: 405
go: ENSG00000116761;
drug: DB02328;DB04217;DB00151;DB00114;
snps: rs28941785 rs28941786 rs1021737
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; calmodulin binding [GO:0005516]; carbon-sulfur lyase activity [GO:0016846]; cystathionine gamma-lyase activity [GO:0004123]; cystathionine gamma-synthase activity [GO:0003962]; homocysteine desulfhydrase activity [GO:0047982]; identical protein binding [GO:0042802]; L-cysteine desulfhydrase activity [GO:0080146]; L-cystine L-cysteine-lyase (deaminating) [GO:0044540]; pyridoxal phosphate binding [GO:0030170]; 'de novo' L-methionine biosynthetic process [GO:0071266]; cellular response to leukemia inhibitory factor [GO:1990830]; cysteine biosynthetic process [GO:0019344]; cysteine biosynthetic process via cystathionine [GO:0019343]; cysteine metabolic process [GO:0006534]; endoplasmic reticulum unfolded protein response [GO:0030968]; hydrogen sulfide biosynthetic process [GO:0070814]; negative regulation of apoptotic signaling pathway [GO:2001234]; positive regulation of aortic smooth muscle cell differentiation [GO:1904831]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein homotetramerization [GO:0051289]; protein sulfhydration [GO:0044524]; protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine [GO:0018272]; sulfur amino acid catabolic process [GO:0000098]; transsulfuration [GO:0019346]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P32929-1; Sequence=Displayed; Name=2; IsoId=P32929-2; Sequence=VSP_006306; Name=3; IsoId=P32929-3; Sequence=VSP_047274; 


uniprotID: Q0VF96
geneSymbol: CGNL1
name: Cingulin-like protein 1 (Junction-associated coiled-coil protein) (Paracingulin)
length: 1302
go: ENSG00000128849;
snps: rs1280395 rs7182648 rs1280396 rs1620402 rs16977594
sequence:

opentargets:
bicellular tight junction [GO:0005923]; myosin complex [GO:0016459]; motor activity [GO:0003774]; actin filament organization [GO:0007015]; negative regulation of small GTPase mediated signal transduction [GO:0051058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0VF96-1; Sequence=Displayed; Name=2; IsoId=Q0VF96-2; Sequence=VSP_029946; 

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250|UniProtKB:Q6AW69}. Note=Localizes to the apical junction complex composed of tight and adherens junctions (PubMed:22891260). In the liver and kidney, it is also found along non-junctional actin filament bundles in addition to the apical junction (By similarity). {ECO:0000250|UniProtKB:Q6AW69, ECO:0000269|PubMed:22891260}.


uniprotID: Q9H1Z8
geneSymbol: C2orf40
name: Augurin (Esophageal cancer-related gene 4 protein)
length: 148
go: ENSG00000119147;
snps: rs10187689
sequence:
MAASPARPAVLALTGLALLLLLCWGPGGISGNKLKLMLQKREAPVPTKTKVAVDENKAKEFLGSLKRQKRQLWDRTRPEVQQWYQQFLYMGFDEAKFEDDITYWLNRDRNGHEYYGDYYQRHYDEDSAIGPRSPYGFRHGASVNYDDY

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; dense core granule [GO:0031045]; extracellular space [GO:0005615]; transport vesicle [GO:0030133]; neuropeptide hormone activity [GO:0005184]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cellular senescence [GO:0090398]; central nervous system development [GO:0007417]; G1 to G0 transition [GO:0070314]; negative regulation of cell proliferation [GO:0008285]; neuropeptide signaling pathway [GO:0007218]; positive regulation of corticosterone secretion [GO:2000854]; positive regulation of corticotropin secretion [GO:0051461]; positive regulation of corticotropin-releasing hormone secretion [GO:0051466]; response to wounding [GO:0009611]; vasopressin secretion [GO:0030103]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17284679}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:17284679}.


uniprotID: Q9H7T9
geneSymbol: AUNIP
name: Aurora kinase A and ninein-interacting protein (AIBp)
length: 357
go: ENSG00000127423;
snps: rs34449716
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; site of DNA damage [GO:0090734]; spindle pole [GO:0000922]; damaged DNA binding [GO:0003684]; double-strand break repair via homologous recombination [GO:0000724]; negative regulation of double-strand break repair via nonhomologous end joining [GO:2001033]; spindle organization [GO:0007051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7T9-1; Sequence=Displayed; Name=2; IsoId=Q9H7T9-2; Sequence=VSP_044288; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29042561}. Chromosome {ECO:0000269|PubMed:29042561}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20596670}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:20596670}. Note=Accumulates at sites of DNA damage by binding to DNA substrates that mimick structures generated at stalled replication forks (PubMed:29042561). Localizes to the centrosome in interphase and to the spindle pole in metaphase (PubMed:20596670). {ECO:0000269|PubMed:20596670, ECO:0000269|PubMed:29042561}.


uniprotID: O15265
geneSymbol: ATXN7
reactome: R-HSA-3214847;R-HSA-5689880;
pdb: 2KKR;
name: Ataxin-7 (Spinocerebellar ataxia type 7 protein)
length: 892
go: ENSG00000163635;
snps: rs1053338 rs3733124 rs1053340 rs3774729
sequence:

opentargets:
cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; histone deubiquitination [GO:0016578]; microtubule cytoskeleton organization [GO:0000226]; nucleus organization [GO:0006997]; protein deubiquitination [GO:0016579]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=a; Synonyms=Ataxin-7a; IsoId=O15265-1; Sequence=Displayed; Name=b; Synonyms=Ataxin-7b, SCA7b; IsoId=O15265-2; Sequence=VSP_007695; Name=3; IsoId=O15265-3; Sequence=VSP_044456; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform a: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. Note=In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus. It is able to shuttle between the nucleus and cytoplasm.; SUBCELLULAR LOCATION: Isoform b: Cytoplasm.


uniprotID: Q8ND07
geneSymbol: BBOF1
name: Basal body-orientation factor 1 (Coiled-coil domain-containing protein 176)
length: 529
go: ENSG00000119636;
opentargets: ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; motile cilium assembly [GO:0044458]
snps: rs3784039 rs17182762 rs3784038 rs3742809
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Localizes to a polar structure adjacent to the basal body. {ECO:0000250}.


uniprotID: Q6ZUJ8
geneSymbol: PIK3AP1
reactome: R-HSA-1257604;R-HSA-2219530;R-HSA-6811558;R-HSA-983695;
pdb: 5FOR;
length: 805
go: ENSG00000155629;
snps: rs17112076 rs3748229 rs3748233 rs12784975
name:
Phosphoinositide 3-kinase adapter protein 1 (B-cell adapter for phosphoinositide 3-kinase) (B-cell phosphoinositide 3-kinase adapter protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; phosphatidylinositol 3-kinase regulatory subunit binding [GO:0036312]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of inflammatory response [GO:0050727]; toll-like receptor 2 signaling pathway [GO:0034134]; toll-like receptor 4 signaling pathway [GO:0034142]; toll-like receptor 7 signaling pathway [GO:0034154]; toll-like receptor 9 signaling pathway [GO:0034162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=BCAP-L; IsoId=Q6ZUJ8-1; Sequence=Displayed; Name=2; Synonyms=BCAP-S; IsoId=Q6ZUJ8-2; Sequence=VSP_034238; Name=3; IsoId=Q6ZUJ8-3; Sequence=VSP_034239, VSP_034240; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: O75815
geneSymbol: BCAR3
pdb: 3T6A;
length: 825
go: ENSG00000137936;
snps: rs12062278 rs17110107
name:
Breast cancer anti-estrogen resistance protein 3 (Novel SH2-containing protein 2) (SH2 domain-containing protein 3B)

sequence:

opentargets:
intracellular [GO:0005622]; guanyl-nucleotide exchange factor activity [GO:0005085]; lens morphogenesis in camera-type eye [GO:0002089]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; response to drug [GO:0042493]; signal transduction [GO:0007165]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75815-1; Sequence=Displayed; Name=2; IsoId=O75815-2; Sequence=VSP_017814; Note=No experimental confirmation available.; Name=3; IsoId=O75815-3; Sequence=VSP_046716, VSP_046717; Note=No experimental confirmation available.; 


uniprotID: Q9UHD4
geneSymbol: CIDEB
pdb: 1D4B;
name: Cell death activator CIDE-B (Cell death-inducing DFFA-like effector B)
length: 219
go: ENSG00000136305;
sequence:

opentargets:
cytosol [GO:0005829]; lipid droplet [GO:0005811]; perinuclear region of cytoplasm [GO:0048471]; identical protein binding [GO:0042802]; activation of cysteine-type endopeptidase activity [GO:0097202]; apoptotic process [GO:0006915]; execution phase of apoptosis [GO:0097194]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; positive regulation of cell death [GO:0010942]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]


uniprotID: Q9NWK9
geneSymbol: ZNHIT6
length: 470
go: ENSG00000117174;
snps: rs17399721
name:
Box C/D snoRNA protein 1 (Serologically defined breast cancer antigen NY-BR-75) (Zinc finger HIT domain-containing protein 6)

sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleus [GO:0005634]; pre-snoRNP complex [GO:0070761]; ATPase binding [GO:0051117]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; TFIID-class transcription factor complex binding [GO:0001094]; box C/D snoRNP assembly [GO:0000492]; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000463]; protein complex oligomerization [GO:0051259]; snoRNA localization [GO:0048254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWK9-1; Sequence=Displayed; Name=2; IsoId=Q9NWK9-2; Sequence=VSP_042946; Note=No experimental confirmation available.; 


uniprotID: O75339
geneSymbol: CILP
reactome: R-HSA-2404192;
length: 1184
go: ENSG00000138615;
name:
Cartilage intermediate layer protein 1 (CILP-1) (Cartilage intermediate-layer protein) [Cleaved into: Cartilage intermediate layer protein 1 C1; Cartilage intermediate layer protein 1 C2]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; cellular response to transforming growth factor beta stimulus [GO:0071560]; dephosphorylation [GO:0016311]; negative regulation of gene expression [GO:0010629]; negative regulation of insulin-like growth factor receptor signaling pathway [GO:0043569]; negative regulation of SMAD protein signal transduction [GO:0060392]

snps:
rs2585033 rs2073711 rs149286218 rs2679118 rs771628304 rs2679117 rs768702821 rs769023414 rs938952 rs747702148 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:15864306}.


uniprotID: O14874
geneSymbol: BCKDK
reactome: R-HSA-70895;
length: 412
go: ENSG00000103507;
drug: DB01660;
snps: rs147210405
location: SUBCELLULAR LOCATION: Mitochondrion matrix. Mitochondrion {ECO:0000269|PubMed:24449431}.
name:
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial (EC 2.7.11.4) (Branched-chain alpha-ketoacid dehydrogenase kinase) (BCKD-kinase) (BCKDHKIN)

sequence:

opentargets:
mitochondrial alpha-ketoglutarate dehydrogenase complex [GO:0005947]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity [GO:0047323]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; protein serine/threonine kinase activity [GO:0004674]; branched-chain amino acid catabolic process [GO:0009083]; cellular amino acid catabolic process [GO:0009063]; phosphorylation [GO:0016310]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O14874-1; Sequence=Displayed; Name=2; IsoId=O14874-2; Sequence=VSP_054604, VSP_054605; Note=No experimental confirmation available.; Name=3; IsoId=O14874-3; Sequence=VSP_054605; Note=No experimental confirmation available.; 


uniprotID: Q9BW66
geneSymbol: CINP
name: Cyclin-dependent kinase 2-interacting protein (CDK2-interacting protein)
length: 212
go: ENSG00000100865;
snps: rs7011
sequence:

opentargets:
nucleus [GO:0005634]; cell cycle [GO:0007049]; cell division [GO:0051301]; DNA repair [GO:0006281]; DNA replication [GO:0006260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BW66-1; Sequence=Displayed; Name=2; IsoId=Q9BW66-2; Sequence=VSP_045342, VSP_045343; Note=No experimental confirmation available.; Name=3; IsoId=Q9BW66-3; Sequence=VSP_046386; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19889979}. Note=Binds to nuclear under G1 conditions, and dissociates from chromatin with the start of DNA replication.


uniprotID: Q9NPC3
geneSymbol: CCNB1IP1
length: 277
go: ENSG00000100814;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Associates to the synaptonemal complex.
name:
E3 ubiquitin-protein ligase CCNB1IP1 (EC 2.3.2.27) (Cyclin-B1-interacting protein 1) (Human enhancer of invasion 10) (RING-type E3 ubiquitin transferase CCNB1IP1)

sequence:

opentargets:
synaptonemal complex [GO:0000795]; metal ion binding [GO:0046872]; transferase activity [GO:0016740]; blastocyst formation [GO:0001825]; chiasma assembly [GO:0051026]; protein ubiquitination [GO:0016567]; reciprocal meiotic recombination [GO:0007131]; spermatid development [GO:0007286]


uniprotID: Q8TCG1
geneSymbol: CIP2A
pdb: 5UFL;
name: Protein CIP2A (Cancerous inhibitor of PP2A) (p90 autoantigen)
length: 905
go: ENSG00000163507;
snps: rs7648496 rs2278911 rs9856308 rs34944683 rs13083928 rs34172460 rs6777766 rs13071874
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; protein homodimerization activity [GO:0042803]; positive regulation of neural precursor cell proliferation [GO:2000179]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TCG1-1; Sequence=Displayed; Name=2; IsoId=Q8TCG1-2; Sequence=VSP_025336; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:12118381}. Note=Slightly concentrates in the perinuclear region (PubMed:12118381). {ECO:0000269|PubMed:12118381}.


uniprotID: Q15642
geneSymbol: TRIP10
reactome: R-HSA-194840;R-HSA-8856828;
pdb: 2CT4;2EFK;2KE4;
length: 601
go: ENSG00000125733;
name:
Cdc42-interacting protein 4 (Protein Felic) (Salt tolerant protein) (hSTP) (Thyroid receptor-interacting protein 10) (TR-interacting protein 10) (TRIP-10)

sequence:

opentargets:
cell cortex [GO:0005938]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; phagocytic cup [GO:0001891]; GTPase activator activity [GO:0005096]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; actin cytoskeleton organization [GO:0030036]; cell communication [GO:0007154]; endocytosis [GO:0006897]; membrane organization [GO:0061024]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=L; IsoId=Q15642-1; Sequence=Displayed; Name=2; Synonyms=A, W; IsoId=Q15642-2; Sequence=VSP_021716; Name=3; Synonyms=B; IsoId=Q15642-3; Sequence=VSP_021716, VSP_021721; Note=No experimental confirmation available.; Name=4; Synonyms=C; IsoId=Q15642-4; Sequence=VSP_021716, VSP_021719, VSP_021720; Note=No experimental confirmation available.; Name=5; Synonyms=V; IsoId=Q15642-5; Sequence=VSP_021717, VSP_021718; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Lysosome. Golgi apparatus. Cell membrane. Cell projection, phagocytic cup. Note=Translocates to the plasma membrane in response to insulin stimulation, and this may require active RHOQ (By similarity). Localizes to cortical regions coincident with F-actin, to lysosomes and to sites of phagocytosis in macrophages. Also localizes to the Golgi, and this requires AKAP9. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm, perinuclear region.


uniprotID: Q9C0C6
geneSymbol: CIPC
name: CLOCK-interacting pacemaker (CLOCK-interacting circadian protein)
length: 399
go: ENSG00000198894;
snps: rs11552006 rs759593
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; negative regulation of circadian rhythm [GO:0042754]; negative regulation of transcription, DNA-templated [GO:0045892]; rhythmic process [GO:0048511]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26657846}. Cytoplasm, cytosol {ECO:0000269|PubMed:26657846}. Note=Predominantly localizes to the nucleus, where it co-localizes with CLOCK. At the G1/S boundary, partially translocated to the cytosol. {ECO:0000250|UniProtKB:Q8R0W1, ECO:0000269|PubMed:26657846}.


uniprotID: Q4VC05
geneSymbol: BCL7A
name: B-cell CLL/lymphoma 7 protein family member A
length: 210
go: ENSG00000110987;
opentargets: negative regulation of transcription, DNA-templated [GO:0045892]
snps: rs34821485
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Isoform b; IsoId=Q4VC05-1; Sequence=Displayed; Name=2; IsoId=Q4VC05-2; Sequence=VSP_019271; 


uniprotID: Q86UU0
geneSymbol: BCL9L
reactome: R-HSA-201722;R-HSA-3769402;
pdb: 2XB1;4UP0;4UP5;
length: 1499
go: ENSG00000186174;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17129358, ECO:0000269|PubMed:17309600}.
name:
B-cell CLL/lymphoma 9-like protein (B-cell lymphoma 9-like protein) (BCL9-like protein) (Protein BCL9-2)

sequence:

opentargets:
beta-catenin-TCF complex [GO:1990907]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; beta-catenin binding [GO:0008013]; transcription coactivator activity [GO:0003713]; beta-catenin-TCF complex assembly [GO:1904837]; canonical Wnt signaling pathway [GO:0060070]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell morphogenesis [GO:0022604]; skeletal muscle cell differentiation [GO:0035914]; somatic stem cell population maintenance [GO:0035019]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86UU0-1; Sequence=Displayed; Name=2; IsoId=Q86UU0-2; Sequence=VSP_030205; Name=3; IsoId=Q86UU0-3; Sequence=VSP_030207, VSP_030208; Note=No experimental confirmation available.; Name=4; IsoId=Q86UU0-4; Sequence=VSP_030206; Note=No experimental confirmation available.; 


uniprotID: O00512
geneSymbol: BCL9
reactome: R-HSA-201722;R-HSA-3769402;
pdb: 2GL7;2VP7;2VPB;2VPD;2VPE;2VPG;3SL9;
name: B-cell CLL/lymphoma 9 protein (B-cell lymphoma 9 protein) (Bcl-9) (Protein legless homolog)
length: 1426
go: ENSG00000116128;
snps: rs3820129 rs34002844
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
beta-catenin-TCF complex [GO:1990907]; cis-Golgi network [GO:0005801]; nucleoplasm [GO:0005654]; beta-catenin binding [GO:0008013]; transcription coactivator activity [GO:0003713]; beta-catenin-TCF complex assembly [GO:1904837]; canonical Wnt signaling pathway [GO:0060070]; myotube differentiation involved in skeletal muscle regeneration [GO:0014908]; positive regulation of transcription by RNA polymerase II [GO:0045944]; skeletal muscle cell differentiation [GO:0035914]; somatic stem cell population maintenance [GO:0035019]


uniprotID: Q9NYF8
geneSymbol: BCLAF1
name: Bcl-2-associated transcription factor 1 (Btf) (BCLAF1 and THRAP3 family member 1)
length: 920
go: ENSG00000029363;
snps: rs9942517 rs6940018 rs1967446 rs1967445 rs7381749 rs34541670
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; cellular response to leukemia inhibitory factor [GO:1990830]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA-templated transcription, initiation [GO:2000144]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of response to DNA damage stimulus [GO:2001022]; regulation of DNA-templated transcription in response to stress [GO:0043620]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NYF8-1; Sequence=Displayed; Name=2; Synonyms=Btf-l; IsoId=Q9NYF8-2; Sequence=VSP_010369; Name=3; Synonyms=Btf-s, BP-1; IsoId=Q9NYF8-3; Sequence=VSP_010369, VSP_010370; Name=4; IsoId=Q9NYF8-4; Sequence=VSP_010371; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus speckle {ECO:0000269|PubMed:24100041}. Nucleus, nucleoplasm {ECO:0000269|PubMed:24100041}.


uniprotID: Q6W2J9
geneSymbol: BCOR
pdb: 2N1L;3BIM;4HPL;
name: BCL-6 corepressor (BCoR)
length: 1755
go: ENSG00000183337;
snps: rs121434618
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10898795}.
sequence:

opentargets:
nucleus [GO:0005634]; heat shock protein binding [GO:0031072]; histone deacetylase binding [GO:0042826]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; blastocyst hatching [GO:0001835]; heart development [GO:0007507]; histone H2A monoubiquitination [GO:0035518]; negative regulation of bone mineralization [GO:0030502]; negative regulation of histone H3-K36 methylation [GO:0000415]; negative regulation of histone H3-K4 methylation [GO:0051572]; negative regulation of tooth mineralization [GO:0070171]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; odontogenesis [GO:0042476]; roof of mouth development [GO:0060021]; specification of axis polarity [GO:0065001]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=Q6W2J9-1; Sequence=Displayed; Name=2; IsoId=Q6W2J9-2; Sequence=VSP_012557; Name=3; Synonyms=Short; IsoId=Q6W2J9-3; Sequence=VSP_012554, VSP_012556; Name=4; IsoId=Q6W2J9-4; Sequence=VSP_012555, VSP_012557; 


uniprotID: Q86X95
geneSymbol: CIR1
name: Corepressor interacting with RBPJ 1 (CBF1-interacting corepressor) (Recepin)
length: 450
go: ENSG00000138433;
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA-binding transcription factor activity [GO:0003700]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; transcription corepressor activity [GO:0003714]; mRNA processing [GO:0006397]; negative regulation of transcription, DNA-templated [GO:0045892]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86X95-1; Sequence=Displayed; Name=2; IsoId=Q86X95-2; Sequence=VSP_020091, VSP_020092; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with NEK6 in the centrosome.


uniprotID: Q9Y276
geneSymbol: BCS1L
reactome: R-HSA-1268020;
name: Mitochondrial chaperone BCS1 (h-BCS1) (BCS1-like protein)
length: 419
go: ENSG00000074582;
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial respiratory chain complex III [GO:0005750]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; mitochondrial respiratory chain complex I assembly [GO:0032981]; mitochondrial respiratory chain complex III assembly [GO:0034551]; mitochondrial respiratory chain complex IV assembly [GO:0033617]; mitochondrion organization [GO:0007005]

snps:
rs121908579 rs121908575 rs121908580 rs140812286 rs28937590 rs121908572 rs778769841 rs1057521059 rs386833857 rs121908573 rs144885874 rs121908577 rs121908578 rs121908571 rs587777278 rs1457171169 rs1280810181 rs386833858 rs121908574 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:9878253}; Single-pass membrane protein {ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:9878253}.


uniprotID: Q9NZ45
geneSymbol: CISD1
pdb: 2QD0;2QH7;2R13;3EW0;3LPQ;3REE;4EZF;4F1E;4F28;4F2C;
name: CDGSH iron-sulfur domain-containing protein 1 (MitoNEET)
length: 108
go: ENSG00000122873;
sequence:
MSLTSSSSVRVEWIAAVTIAAGTAAIGYLAYKRFYVKDHRNKAMINLHIQKDNPKIVHAFDMEDLGDKAVYCRCWRSKKFPFCDGAHTKHNEETGDNVGPLIIKKKET

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; 2 iron, 2 sulfur cluster binding [GO:0051537]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; regulation of cellular respiration [GO:0043457]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:17376863, ECO:0000269|PubMed:17766439, ECO:0000269|PubMed:17905743, ECO:0000269|PubMed:18047834}; Single-pass type III membrane protein {ECO:0000269|PubMed:17376863, ECO:0000269|PubMed:17766439, ECO:0000269|PubMed:17905743, ECO:0000269|PubMed:18047834}.


uniprotID: Q8N5K1
geneSymbol: CISD2
pdb: 3FNV;4OO7;4OOA;
length: 135
go: ENSG00000145354;
name:
CDGSH iron-sulfur domain-containing protein 2 (Endoplasmic reticulum intermembrane small protein) (MitoNEET-related 1 protein) (Miner1) (Nutrient-deprivation autophagy factor-1) (NAF-1)

sequence:
MVLESVARIVKVQLPAYLKRLPVPESITGFARLTVSEWLRLLPFLGVLALLGYLAVRPFLPKKKQQKDSLINLKIQKENPKVVNEINIEDLCLTKAAYCRCWRSKTFPACDGSHNKHNELTGDNVGPLILKKKEV

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; protein-containing complex [GO:0032991]; 2 iron, 2 sulfur cluster binding [GO:0051537]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; autophagy of mitochondrion [GO:0000422]; multicellular organism aging [GO:0010259]; regulation of autophagy [GO:0010506]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion outer membrane; Single-pass membrane protein. Note=According to PubMed:20010695, it mainly localizes to the endoplasmic reticulum. However, experiments in mouse showed that it mainly localizes to the mitochondrion outer membrane.


uniprotID: P0C7P0
geneSymbol: CISD3
pdb: 6AVJ;
length: 127
go: ENSG00000277972;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17376863}.
name:
CDGSH iron-sulfur domain-containing protein 3, mitochondrial (MitoNEET-related protein 2) (Miner2) (Mitochondrial inner NEET protein) (MiNT)

sequence:
MRGAGAILRPAARGARDLNPRRDISSWLAQWFPRTPARSVVALKTPIKVELVAGKTYRWCVCGRSKKQPFCDGSHFFQRTGLSPLKFKAQETRMVALCTCKATQRPPYCDGTHRSERVQKAEVGSPL

opentargets:
mitochondrion [GO:0005739]; 2 iron, 2 sulfur cluster binding [GO:0051537]; metal ion binding [GO:0046872]


uniprotID: Q8NFC6
geneSymbol: BOD1L1
name: Biorientation of chromosomes in cell division protein 1-like 1
length: 3051
go: ENSG00000038219;
snps: rs2035820 rs1971278 rs17745712 rs17745676 rs16888885 rs17807493 rs3822227 rs3733557 rs28538279
sequence:

opentargets:
chromosome [GO:0005694]; nucleoplasm [GO:0005654]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; replication fork processing [GO:0031297]

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|Ref.2}. Note=Localizes at replication forks: following DNA damage, localizes to damaged replication forks undergoing resection. {ECO:0000269|Ref.2}.


uniprotID: Q8IYS8
geneSymbol: BOD1L2
length: 172
go: ENSG00000228075;
name:
Biorientation of chromosomes in cell division protein 1-like 2 (Biorientation of chromosomes in cell division protein 1 pseudogene) (Protein FAM44C)

sequence:
MADGGGGGSGGAGPASTRASGGGGPINPASLPPGDPQLIAIIVGQLKSRGLFDSFRRDCKADVDTKPAYQNLSQKADNFVSTHLDKQEWNPPANDNQLHDGLRQSVVQSGRSEAGVDRISSQVVDPKLNHIFRPQIEQIIHEFLVAQKEAAVPALPPEPEGQDPPAPSQDTS

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; cell cycle [GO:0007049]; cell division [GO:0051301]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q96IK1}. Chromosome, centromere, kinetochore {ECO:0000250|UniProtKB:Q96IK1}.


uniprotID: O75390
geneSymbol: CS
reactome: R-HSA-1268020;R-HSA-71403;
pdb: 5UZP;5UZR;
name: Citrate synthase, mitochondrial (EC 2.3.3.1) (Citrate (Si)-synthase)
length: 466
go: ENSG00000062485;
drug: DB03182;DB04272;DB01992;DB03499;DB04230;DB02637;DB01969;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; citrate (Si)-synthase activity [GO:0004108]; RNA binding [GO:0003723]; carbohydrate metabolic process [GO:0005975]; tricarboxylic acid cycle [GO:0006099]


uniprotID: Q9BUT1
geneSymbol: BDH2
reactome: R-HSA-77111;
pdb: 2AG5;
length: 245
go: ENSG00000164039;
snps: rs1054707
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16380372}.
name:
3-hydroxybutyrate dehydrogenase type 2 (EC 1.1.1.-) (EC 1.1.1.30) (Dehydrogenase/reductase SDR family member 6) (Oxidoreductase UCPA) (R-beta-hydroxybutyrate dehydrogenase) (Short chain dehydrogenase/reductase family 15C member 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 3-hydroxybutyrate dehydrogenase activity [GO:0003858]; NAD binding [GO:0051287]; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor [GO:0016628]; epithelial cell differentiation [GO:0030855]; fatty acid beta-oxidation [GO:0006635]; heme metabolic process [GO:0042168]; iron ion homeostasis [GO:0055072]; ketone body biosynthetic process [GO:0046951]; siderophore biosynthetic process [GO:0019290]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BUT1-1; Sequence=Displayed; Name=2; IsoId=Q9BUT1-2; Sequence=VSP_015859; Name=3; IsoId=Q9BUT1-3; Sequence=VSP_039781; 


uniprotID: Q02338
geneSymbol: BDH1
reactome: R-HSA-77108;R-HSA-77111;
length: 343
go: ENSG00000161267;
drug: DB00157;
name:
D-beta-hydroxybutyrate dehydrogenase, mitochondrial (EC 1.1.1.30) (3-hydroxybutyrate dehydrogenase) (BDH) (Short chain dehydrogenase/reductase family 9C member 1)

sequence:

opentargets:
matrix side of mitochondrial inner membrane [GO:0099617]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; 3-hydroxybutyrate dehydrogenase activity [GO:0003858]; ketone body biosynthetic process [GO:0046951]; ketone body catabolic process [GO:0046952]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q02337}. Mitochondrion matrix {ECO:0000250|UniProtKB:Q02337}.


uniprotID: Q9ULV3
geneSymbol: CIZ1
length: 898
go: ENSG00000148337;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Cip1-interacting zinc finger protein (CDKN1A-interacting zinc finger protein 1) (Nuclear protein NP94) (Zinc finger protein 356)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]

snps:
rs747696276 rs45588035 rs397514566 rs45554035 rs200010931 rs780188256 rs12334 rs11549266 rs11549260 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9ULV3-1; Sequence=Displayed; Name=2; Synonyms=NP94B; IsoId=Q9ULV3-2; Sequence=VSP_004164, VSP_004165; Name=3; IsoId=Q9ULV3-3; Sequence=VSP_004164, VSP_039894; Name=4; IsoId=Q9ULV3-4; Sequence=VSP_039894; Name=5; IsoId=Q9ULV3-5; Sequence=VSP_044729; Note=No experimental confirmation available.; 


uniprotID: A8MW95
geneSymbol: BECN2
pdb: 5K7B;5K9L;
name: Beclin-2 (Beclin-1 autophagy-related pseudogene 1) (Beclin-1-like protein 1)
length: 431
go: ENSG00000196289;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
extrinsic component of membrane [GO:0019898]; phagophore assembly site [GO:0000407]; phosphatidylinositol 3-kinase complex, class III, type I [GO:0034271]; phosphatidylinositol 3-kinase complex, class III, type II [GO:0034272]; protein-containing complex binding [GO:0044877]; autophagosome assembly [GO:0000045]; autophagy [GO:0006914]; cellular response to nitrogen starvation [GO:0006995]; endosome to lysosome transport [GO:0008333]; G protein-coupled receptor catabolic process [GO:1990172]; glucose homeostasis [GO:0042593]; late endosome to vacuole transport [GO:0045324]; protein localization by the Cvt pathway [GO:0032258]


uniprotID: Q8IYJ2
geneSymbol: C10orf67
name: Uncharacterized protein C10orf67, mitochondrial
length: 551
go: ENSG00000179133;
opentargets: mitochondrion [GO:0005739]
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYJ2-1; Sequence=Displayed; Name=2; IsoId=Q8IYJ2-2; Sequence=VSP_058394, VSP_058395; Note=No experimental confirmation available.; 


uniprotID: Q8WW14
geneSymbol: C10orf82
name: Uncharacterized protein C10orf82
length: 234
go: ENSG00000165863;
snps: rs11551267
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WW14-1; Sequence=Displayed; Name=2; IsoId=Q8WW14-2; Sequence=VSP_036119; Name=3; IsoId=Q8WW14-3; Sequence=VSP_036117, VSP_036118; 


uniprotID: Q8N1V8
geneSymbol: LINC01561
name: Uncharacterized protein encoded by LINC01561
length: 128
sequence:
MAWRVPGVRPASTFFPQVLRASSELPNRLPEGSTVGPKPDSSWEAGSQGNWGLTSSGAGQDSSAQKLGILSVQISLKIWTWEKPSGWGHLHAAVTGASCCSPLSQGGAICLVTAPQDKPDCSPCTSGH


uniprotID: Q9H8K7
geneSymbol: C10orf88
name: Uncharacterized protein C10orf88
length: 445
go: ENSG00000119965;
opentargets: identical protein binding [GO:0042802]
sequence:


uniprotID: Q96M02
geneSymbol: C10orf90
length: 699
go: ENSG00000154493;
snps: rs11558415 rs11245008 rs11245007 rs12412320
name:
(E2-independent) E3 ubiquitin-conjugating enzyme FATS (EC 2.3.2.-) (Centrosomal protein C10orf90) (E2/E3 hybrid ubiquitin-protein ligase FATS) (Fragile-site associated tumor suppressor homolog) (FATS)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; alpha-actinin binding [GO:0051393]; histone deacetylase binding [GO:0042826]; ubiquitin protein ligase activity [GO:0061630]; protein polyubiquitination [GO:0000209]; protein stabilization [GO:0050821]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96M02-1; Sequence=Displayed; Name=2; IsoId=Q96M02-2; Sequence=VSP_023458; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20844083}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20844083}. Note=Localizes to the actin cytoskeleton in a proportion of cells. Colocalizes with centriolar acetylated tubulin. {ECO:0000269|PubMed:20844083}.


uniprotID: Q9BUH8
geneSymbol: BEGAIN
reactome: R-HSA-6794361;
name: Brain-enriched guanylate kinase-associated protein
length: 593
go: ENSG00000183092;
opentargets: cytoplasm [GO:0005737]; membrane [GO:0016020]
sequence:


uniprotID: Q8NDZ0
geneSymbol: BEND2
name: BEN domain-containing protein 2
length: 799
go: ENSG00000177324;
snps: rs17274127 rs12859329
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDZ0-1; Sequence=Displayed; Name=2; IsoId=Q8NDZ0-2; Sequence=VSP_044653, VSP_044654; Note=No experimental confirmation available.; 


uniprotID: Q5T5X7
geneSymbol: BEND3
pdb: 5JNO;
name: BEN domain-containing protein 3
length: 828
go: ENSG00000178409;
sequence:

opentargets:
nuclear heterochromatin [GO:0005720]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; rDNA binding [GO:0000182]; chromatin silencing at rDNA [GO:0000183]; DNA methylation [GO:0006306]; histone H3-K27 trimethylation [GO:0098532]; histone H3-K4 trimethylation [GO:0080182]; histone H3-K9 trimethylation [GO:0036124]; histone H4 acetylation [GO:0043967]; histone H4-K20 trimethylation [GO:0034773]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of ATP metabolic process [GO:1903580]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21914818, ECO:0000269|PubMed:25600804}. Nucleus, nucleolus {ECO:0000269|PubMed:26100909}. Note=In the nucleus, observed in heterochromatic foci containing CBX1, CBX3, CBX5 and histone H3 trimethylated at 'Lys-9'. Released from chromatin during decondensation. Association with heterochromatin does not depend on sumoylation. {ECO:0000269|PubMed:21914818}.


uniprotID: Q6ZU67
geneSymbol: BEND4
name: BEN domain-containing protein 4 (Coiled-coil domain-containing protein 4)
length: 534
go: ENSG00000188848;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6ZU67-1; Sequence=Displayed; Name=2; IsoId=Q6ZU67-2; Sequence=VSP_016490, VSP_016491; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZU67-3; Sequence=VSP_016488, VSP_016489, VSP_016492, VSP_016493; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZU67-4; Sequence=VSP_036338; Note=No experimental confirmation available.; Name=5; IsoId=Q6ZU67-5; Sequence=VSP_036338, VSP_016490, VSP_016491; Note=No experimental confirmation available.; 


uniprotID: Q7L4P6
geneSymbol: BEND5
name: BEN domain-containing protein 5
length: 421
go: ENSG00000162373;
sequence:

opentargets:
Golgi apparatus [GO:0005794]; DNA binding [GO:0003677]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L4P6-1; Sequence=Displayed; Name=2; IsoId=Q7L4P6-2; Sequence=VSP_022695; 


uniprotID: Q5SZJ8
geneSymbol: BEND6
name: BEN domain-containing protein 6
length: 279
go: ENSG00000151917;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q6PFX2}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; transcription corepressor activity [GO:0003714]; negative regulation of Notch signaling pathway [GO:0045746]; positive regulation of neuron differentiation [GO:0045666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5SZJ8-1; Sequence=Displayed; Name=2; IsoId=Q5SZJ8-2; Sequence=VSP_026963, VSP_026964; Note=No experimental confirmation available.; Name=3; IsoId=Q5SZJ8-3; Sequence=VSP_026961, VSP_026962; Note=No experimental confirmation available.; Name=4; IsoId=Q5SZJ8-4; Sequence=VSP_026965, VSP_026966; 


uniprotID: Q8N7W2
geneSymbol: BEND7
name: BEN domain-containing protein 7
length: 519
go: ENSG00000165626;
opentargets: extracellular exosome [GO:0070062]
snps: rs12247033
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N7W2-1; Sequence=Displayed; Name=2; IsoId=Q8N7W2-2; Sequence=VSP_039846, VSP_019506, VSP_019507, VSP_019508; Name=3; IsoId=Q8N7W2-3; Sequence=VSP_039846, VSP_039847; 


uniprotID: O76090
geneSymbol: BEST1
reactome: R-HSA-2672351;
name: Bestrophin-1 (TU15B) (Vitelliform macular dystrophy protein 2)
length: 585
go: ENSG00000167995;
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; chloride channel complex [GO:0034707]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; bicarbonate transmembrane transporter activity [GO:0015106]; chloride channel activity [GO:0005254]; identical protein binding [GO:0042802]; intracellular calcium activated chloride channel activity [GO:0005229]; chloride transport [GO:0006821]; detection of light stimulus involved in visual perception [GO:0050908]; ion transmembrane transport [GO:0034220]; regulation of calcium ion transport [GO:0051924]; transepithelial chloride transport [GO:0030321]; visual perception [GO:0007601]

snps:
rs28940275 rs281865204 rs281865205 rs28940276 rs281865206 rs281865207 rs281865208 rs281865209 rs281865210 rs281865211 rs281865212 rs281865213 rs281865215 rs281865214 rs281865216 rs281865217 rs281865218 rs121918288 rs28940278 rs281865529 rs281865221 rs281865530 rs28940274 rs121918289 rs281865223 rs281865224 rs281865225 rs281865224 rs28940273 rs281865226 rs281865227 rs281865228 rs281865229 rs281865230 rs281865232 rs281865231 rs281865273 rs1805142 rs281865233 rs281865234 rs281865235 rs267606678 rs121918284 rs1800995 rs200277476 rs199529046 rs765998048 rs267606680 rs74653691 rs281865237 rs281865275 rs281865238 rs281865239 rs281865238 rs281865240 rs281865241 rs281865242 rs281865243 rs267606677 rs28941469 rs267606676 rs281865244 rs281865245 rs281865245 rs121918291 rs281865246 rs121918290 rs281865247 rs137853905 rs28940570 rs281865276 rs281865248 rs281865250 rs281865251 rs281865253 rs281865254 rs281865255 rs1805143 rs1805143 rs281865257 rs28941468 rs1805144 rs281865258 rs281865261 rs281865259 rs281865263 rs281865262 rs281865263 rs281865264 rs281865265 rs281865267 rs281865266 rs281865268 rs281865269 rs281865270 rs281865271 rs281865277 rs121918287 rs368387447 rs17854138 rs200582915 rs147192139 rs281865283 rs148060787 rs1800010 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O76090-1; Sequence=Displayed; Name=3; IsoId=O76090-3; Sequence=VSP_008973, VSP_008974; Name=4; IsoId=O76090-4; Sequence=VSP_008973, VSP_008975; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19853238, ECO:0000269|PubMed:26200502}; Multi-pass membrane protein {ECO:0000269|PubMed:19853238}. Basolateral cell membrane {ECO:0000269|PubMed:19853238, ECO:0000269|PubMed:26200502}.


uniprotID: Q8NFU1
geneSymbol: BEST2
reactome: R-HSA-2672351;
name: Bestrophin-2 (Vitelliform macular dystrophy 2-like protein 1)
length: 509
go: ENSG00000039987;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
chloride channel complex [GO:0034707]; cilium [GO:0005929]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]; membrane depolarization [GO:0051899]; sensory perception of smell [GO:0007608]


uniprotID: Q8N1M1
geneSymbol: BEST3
reactome: R-HSA-2672351;
name: Bestrophin-3 (Vitelliform macular dystrophy 2-like protein 3)
length: 668
go: ENSG00000127325;
snps: rs1025016 rs17106884
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
chloride channel complex [GO:0034707]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]; negative regulation of ion transport [GO:0043271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; IsoId=Q8N1M1-2; Sequence=Displayed; Name=1; IsoId=Q8N1M1-1; Sequence=VSP_008977, VSP_008978; Name=4; IsoId=Q8N1M1-4; Sequence=VSP_008981, VSP_008982, VSP_008983; Name=5; IsoId=Q8N1M1-5; Sequence=VSP_046979, VSP_046980; Note=Gene prediction based on EST data.; Name=6; IsoId=Q8N1M1-6; Sequence=VSP_008981; 


uniprotID: Q8NFU0
geneSymbol: BEST4
reactome: R-HSA-2672351;
name: Bestrophin-4 (Vitelliform macular dystrophy 2-like protein 2)
length: 473
go: ENSG00000142959;
snps: rs16832245 rs16832242 rs16832241 rs16832239
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
chloride channel complex [GO:0034707]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]


uniprotID: Q9NYM9
geneSymbol: BET1L
reactome: R-HSA-6807878;R-HSA-6811438;
length: 111
go: ENSG00000177951;
name:
BET1-like protein (Golgi SNARE with a size of 15 kDa) (GOS-15) (GS15) (Vesicle transport protein GOS15)

sequence:
MADWARAQSPGAVEEILDRENKRMADSLASKVTRLKSLALDIDRDAEDQNRYLDGMDSDFTSMTSLLTGSVKRFSTMARSGQDNRKLLCGMAVGLIVAFFILSYFLSRART

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; SNARE complex [GO:0031201]; SNAP receptor activity [GO:0005484]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein transport [GO:0015031]; regulation of retrograde vesicle-mediated transport, Golgi to ER [GO:2000156]; retrograde transport, endosome to Golgi [GO:0042147]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250}. Note=Present throughout the Golgi apparatus, with increasing concentration from cis-Golgi to the trans-Golgi face of the stacks. {ECO:0000250}.


uniprotID: O15155
geneSymbol: BET1
reactome: R-HSA-204005;R-HSA-6807878;
pdb: 3EGX;
name: BET1 homolog (hBET1) (Golgi vesicular membrane-trafficking protein p18)
length: 118
go: ENSG00000105829;
sequence:
MRRAGLGEGVPPGNYGNYGYANSGYSACEEENERLTESLRSKVTAIKSLSIEIGHEVKTQNKLLAEMDSQFDSTTGFLGKTMGKLKILSRGSQTKLLCYMMLFSLFVFFIIYWIIKLR

opentargets:
endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; transport vesicle [GO:0030133]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15155-1; Sequence=Displayed; Name=2; IsoId=O15155-2; Sequence=VSP_056216; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Golgi apparatus, cis-Golgi network membrane {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}. Note=Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus (By similarity). {ECO:0000250}.


uniprotID: Q9H5F2
geneSymbol: C11orf1
name: UPF0686 protein C11orf1
length: 150
go: ENSG00000137720;
opentargets: nucleoplasm [GO:0005654]; nucleus [GO:0005634]
snps: rs9280 rs11540721 rs3180820
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10873569}.
sequence:
MAASQCLCCSKFLFQRQNLACFLTNPHCGSLVNADGHGEVWTDWNNMSKFFQYGWRCTTNENTYSNRTLMGNWNQERYDLRNIVQPKPLPSQFGHYFETTYDTSYNNKMPLSTHRFKREPHWFPGHQPELDPPRYKCTEKSTYMNSYSKP


uniprotID: Q96F05
geneSymbol: C11orf24
name: Uncharacterized protein C11orf24 (Protein DM4E3)
length: 449
go: ENSG00000171067;
snps: rs3802746 rs901827
sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24312644}; Single-pass type I membrane protein {ECO:0000269|PubMed:24312644}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:24312644}; Single-pass type I membrane protein {ECO:0000269|PubMed:24312644}. Note=Cycles to the plasma membrane via endosomes in a pH sensitive manner. Associated with Rab6-positive vesicles.


uniprotID: Q96N53
geneSymbol: LINC00167
name: Putative uncharacterized protein encoded by LINC00167
length: 147
sequence:
MTEGLFISCSAVRVKPNRRAGLRRRSPAFLLSANQKTRLFALGSSPRCGPRANGEEASSCAWVSRAPRAACARAKPASRAPEGPVSRKTRGGEAALASARPATDCLRSGLAVERRRKPNSRPAPGVGSLPGSRPQDPQGAAGRRLSP


uniprotID: Q8WZ69
geneSymbol: C11orf40
name: Putative uncharacterized protein C11orf40 (Ro/SSA1-related protein)
length: 217
go: ENSG00000171987;
snps: rs12795289
sequence:


uniprotID: Q8N5U0
geneSymbol: C11orf42
name: Uncharacterized protein C11orf42
length: 333
go: ENSG00000180878;
snps: rs10769671
sequence:


uniprotID: Q8N8P7
geneSymbol: C11orf44
name: Uncharacterized protein C11orf44
length: 122
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MVLLCLFLASLAATPRAGVTGAWPTSGLSILAQLQPSCELRWTQLSRSSWRDLVMTTSLWSLAYFQHFSQETTTQEQLDEMEEIPRESQCGRQDFHALSCPTASPRDRVLLCCPGWRAMVPS


uniprotID: Q96A22
geneSymbol: C11orf52
name: Uncharacterized protein C11orf52
length: 123
go: ENSG00000149300;
opentargets: extracellular exosome [GO:0070062]
snps: rs7124407
sequence:
MGNRVCCGGSWSCPSTFQKKKKTGSQTRRTLKPQPQQLQQNLPKGHETTGHTYERVLQQQGSQERSPGLMSEDSNLHYADIQVCSRPHAREVKHVHLENATEYATLRFPQATPRYDSKNGTLV


uniprotID: Q9H0W9
geneSymbol: C11orf54
pdb: 1XCR;
name: Ester hydrolase C11orf54 (EC 3.1.-.-)
length: 315
go: ENSG00000182919;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16522806}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; hydrolase activity, acting on ester bonds [GO:0016788]; zinc ion binding [GO:0008270]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H0W9-1; Sequence=Displayed; Name=2; IsoId=Q9H0W9-2; Sequence=VSP_019818; Name=3; IsoId=Q9H0W9-3; Sequence=VSP_019821; Note=Probably non-functional.; Name=4; IsoId=Q9H0W9-4; Sequence=VSP_019817; 


uniprotID: Q8NCR3
geneSymbol: C11orf65
name: Uncharacterized protein C11orf65
length: 313
go: ENSG00000166323;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCR3-1; Sequence=Displayed; Name=2; IsoId=Q8NCR3-2; Sequence=VSP_056888, VSP_056889; Note=No experimental confirmation available.; 


uniprotID: Q6IPW1
geneSymbol: C11orf71
name: Uncharacterized protein C11orf71
length: 123
go: ENSG00000180425;
sequence:
MALNNVSLSSGDQRSRVAYRSSHGDLRPRASALAMVSGDGFLVSRPEAIHLGPRQAVRPSVRAESRRVDGGGRSPREPDGRGRSRQARFSPYPIPAVEPDLLRSVLQQRLIALGGVIAARISV

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IPW1-1; Sequence=Displayed; Name=2; IsoId=Q6IPW1-2; Sequence=VSP_022711; Note=No experimental confirmation available.; 


uniprotID: A6NJI1
geneSymbol: C11orf86
name: Uncharacterized protein C11orf86
length: 115
go: ENSG00000173237;
sequence:
MGTGLRSQSLREPRPSYGKLQEPWGRPQEGQLRRALSLRQGQEKSRSQGLERGTEGPDATAQERVPGSLGDTEQLIQAQRRGSRWWLRRYQQVRRRWESFVAIFPSVTLSQPASP


uniprotID: Q6NUJ2
geneSymbol: C11orf87
name: Uncharacterized protein C11orf87
length: 197
go: ENSG00000185742;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MSARAPKELRLALPPCLLNRTFASPNASGSGNTGARGPGAVGSGTCITQVGQQLFQSFSSTLVLIVLVTLIFCLIVLSLSTFHIHKRRMKKRKMQRAQEEYERDHCSGSRGGGGLPRPGRQAPTHAKETRLERQPRDSPFCAPSNASSLSSSSPGLPCQGPCAPPPPPPASSPQGAHAASSCLDTAGEGLLQTVVLS


uniprotID: Q6PI97
geneSymbol: C11orf88
name: UPF0722 protein C11orf88
length: 169
go: ENSG00000183644;
sequence:
METGPSEEPSGRKESQEMCPPGLLVFAGSSEQDANLAKQFWISASMYPPSESQLVLRRDSSQRLPVARPRRSRGSENSHSSQSFHLASNKNRDIFAEALKIQESEEKVKYLQKAKTREEILQLLRKQREERISKELISLPYKPKAKEHKAKKVVSESDKEDQEEVKTLD

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PI97-1; Sequence=Displayed; Name=2; IsoId=Q6PI97-2; Sequence=VSP_032883, VSP_032884; Name=3; IsoId=Q6PI97-3; Sequence=VSP_032883; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q7Z7L8
geneSymbol: C11orf96
name: Uncharacterized protein C11orf96 (Protein Ag2 homolog)
length: 435
snps: rs1973717 rs12797684 rs12796438 rs12796667 rs12798337 rs2434483
sequence:


uniprotID: E9PRG8
geneSymbol: C11orf98
name: Uncharacterized protein C11orf98
length: 122
go: ENSG00000278615;
sequence:
MGAPGGKINRPRTELKKKLFKRRRVLNRERRLRHRVVGAVIDQGLITRHHLKKRASSARANITLSGKKRRKLLQQIRLAQKEKTAMEGEAGTEVGEGNPGFIWDNTSFFPLLSGSPFKASQD


uniprotID: Q7Z7J9
geneSymbol: CAMK2N1
sequence: MSEVLPYGDEKLSPYGDGGDVGQIFSCRLQDTNNFFGAGQNKRPPKLGQIGRSKRVVIEDDRIDDVLKNMTDKAPPGV
length: 78
go: ENSG00000162545;
name:
Calcium/calmodulin-dependent protein kinase II inhibitor 1 (CaMKII inhibitory protein alpha) (CaMKIIN-alpha)

opentargets:
cell junction [GO:0030054]; dendrite [GO:0030425]; intracellular [GO:0005622]; neuronal cell body [GO:0043025]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; calcium-dependent protein kinase inhibitor activity [GO:0008427]; protein kinase binding [GO:0019901]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cyclin-dependent protein kinase activity [GO:1904030]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of proteolysis [GO:0045861]; positive regulation of gene expression [GO:0010628]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, synaptosome. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}.


uniprotID: Q96SN8
geneSymbol: CDK5RAP2
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
length: 1893
go: ENSG00000136861;
snps: rs13287734 rs4836822 rs3780679 rs7875294 rs4837768 rs16909747
name:
CDK5 regulatory subunit-associated protein 2 (CDK5 activator-binding protein C48) (Centrosome-associated protein 215)

sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; microtubule plus-end [GO:0035371]; mitotic spindle pole [GO:0097431]; pericentriolar material [GO:0000242]; perinuclear region of cytoplasm [GO:0048471]; spindle pole [GO:0000922]; calmodulin binding [GO:0005516]; gamma-tubulin binding [GO:0043015]; microtubule binding [GO:0008017]; protein kinase binding [GO:0019901]; transcription regulatory region DNA binding [GO:0044212]; tubulin binding [GO:0015631]; brain development [GO:0007420]; centriole replication [GO:0007099]; centrosome cycle [GO:0007098]; chromosome segregation [GO:0007059]; ciliary basal body-plasma membrane docking [GO:0097711]; establishment of mitotic spindle orientation [GO:0000132]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule bundle formation [GO:0001578]; microtubule cytoskeleton organization [GO:0000226]; microtubule organizing center organization [GO:0031023]; negative regulation of centriole replication [GO:0046600]; negative regulation of neuron differentiation [GO:0045665]; neurogenesis [GO:0022008]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090266]; regulation of neuron differentiation [GO:0045664]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96SN8-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96SN8-2; Sequence=VSP_007563; Note=No experimental confirmation available.; Name=3; IsoId=Q96SN8-3; Sequence=VSP_007564; Note=No experimental confirmation available.; Name=4; IsoId=Q96SN8-4; Sequence=VSP_007565; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:19553473, ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:26482847, ECO:0000269|PubMed:26485573, ECO:0000269|PubMed:29162697}. Golgi apparatus {ECO:0000269|PubMed:20466722}. Cytoplasm {ECO:0000269|PubMed:19553473}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19553473, ECO:0000269|PubMed:26485573}. Note=Found in the pericentriolar region adhering to the surface of the centrosome and in the region of the centrosomal appendages. Localizes to microtubule plus ends in the presence of EB1/MAPRE1. Localization to centrosomes versus Golgi apparatus may be cell type-dependent. For instance, in SK-BR-3 and HEK293F cells, localizes to centrosomes but not to the Golgi apparatus (PubMed:29162697). {ECO:0000269|PubMed:19553473, ECO:0000269|PubMed:26485573, ECO:0000269|PubMed:29162697}.


uniprotID: Q96JB5
geneSymbol: CDK5RAP3
length: 506
go: ENSG00000108465;
snps: rs35054799
name:
CDK5 regulatory subunit-associated protein 3 (CDK5 activator-binding protein C53) (LXXLL/leucine-zipper-containing ARF-binding protein) (Protein HSF-27)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; cyclin binding [GO:0030332]; MDM2/MDM4 family protein binding [GO:0097371]; mitogen-activated protein kinase binding [GO:0051019]; NF-kappaB binding [GO:0051059]; protein kinase binding [GO:0019901]; ubiquitin-like protein ligase binding [GO:0044389]; apoptotic nuclear changes [GO:0030262]; brain development [GO:0007420]; cell proliferation [GO:0008283]; endoplasmic reticulum unfolded protein response [GO:0030968]; mitotic G2 DNA damage checkpoint [GO:0007095]; mitotic G2/M transition checkpoint [GO:0044818]; negative regulation of cellular protein catabolic process [GO:1903363]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of protein kinase activity by regulation of protein phosphorylation [GO:0044387]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of signal transduction by p53 class mediator [GO:1901798]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein ufmylation [GO:0071569]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of neuron differentiation [GO:0045664]; regulation of phosphatase activity [GO:0010921]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96JB5-1; Sequence=Displayed; Name=2; Synonyms=IC53; IsoId=Q96JB5-2; Sequence=VSP_007566, VSP_007567; Note=Due to an intron retention.; Name=3; Synonyms=IC53-2; IsoId=Q96JB5-3; Sequence=VSP_007568; Note=Due to intron retention. No experimental confirmation available.; Name=4; IsoId=Q96JB5-4; Sequence=VSP_055646; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16173922}. Cytoplasm {ECO:0000269|PubMed:15790566, ECO:0000269|PubMed:16173922, ECO:0000269|PubMed:19223857}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19223857}. Note=Colocalizes and associates with microtubules. {ECO:0000269|PubMed:23478299}.


uniprotID: Q07065
geneSymbol: CKAP4
reactome: R-HSA-381426;R-HSA-5683826;R-HSA-6798695;R-HSA-8957275;
name: Cytoskeleton-associated protein 4 (63-kDa cytoskeleton-linking membrane protein) (Climp-63) (p63)
length: 602
go: ENSG00000136026;
snps: rs3088113
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; lamellar body [GO:0042599]; lipid droplet [GO:0005811]; membrane [GO:0016020]; nuclear speck [GO:0016607]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; specific granule membrane [GO:0035579]; RNA binding [GO:0003723]; cellular protein metabolic process [GO:0044267]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Note=Translocates to the perinuclear region upon APF-stimulation.


uniprotID: Q8IZ96
geneSymbol: CMTM1
length: 169
go: ENSG00000089505;
snps: rs16956746
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
CKLF-like MARVEL transmembrane domain-containing protein 1 (Chemokine-like factor superfamily member 1)

sequence:
MDPEHAKPESSEAPSGNLKQPETAAALSLILGALACFIITQANESFITITSLEICIVVFFILIYVLTLHHLLTYLHWPLLDLTNSIITAVFLSVVAILAMQEKKRRHLLYVGGSLCLTAVIVCCIDAFVVTTKMRTNLKRFLGVEVERKLSPAKDAYPETGPDAPQRPA

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; cytokine activity [GO:0005125]; chemotaxis [GO:0006935]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=17;  Name=1; IsoId=Q8IZ96-1; Sequence=Displayed; Name=1a; Synonyms=17; IsoId=Q8IZ96-2; Sequence=VSP_008229; Name=1b; IsoId=Q8IZ96-3; Sequence=VSP_008229, VSP_008252; Name=2; IsoId=Q8IZ96-4; Sequence=VSP_008251, VSP_008252; Name=3; IsoId=Q8IZ96-5; Sequence=VSP_008234, VSP_008242; Name=4; IsoId=Q8IZ96-6; Sequence=VSP_008237; Name=5; IsoId=Q8IZ96-7; Sequence=VSP_008237, VSP_008251, VSP_008252; Name=6; Synonyms=7; IsoId=Q8IZ96-8; Sequence=VSP_008238, VSP_008249; Name=8; Synonyms=9; IsoId=Q8IZ96-9; Sequence=VSP_008247, VSP_008248; Name=10; IsoId=Q8IZ96-10; Sequence=VSP_008236, VSP_008244; Name=11; IsoId=Q8IZ96-11; Sequence=VSP_008233, VSP_008241; Name=12; IsoId=Q8IZ96-12; Sequence=VSP_008230, VSP_008245, VSP_008246, VSP_008250; Name=13; IsoId=Q8IZ96-13; Sequence=VSP_008235, VSP_008243; Name=14; Synonyms=15; IsoId=Q8IZ96-14; Sequence=VSP_008232, VSP_008240; Name=16; IsoId=Q8IZ96-15; Sequence=VSP_008231, VSP_008239; Name=19; Synonyms=20,21,22,23; IsoId=Q8IZ96-16; Sequence=VSP_008229, VSP_008247, VSP_008248; Name=24; IsoId=Q8IZ96-17; Sequence=VSP_043579; Note=No experimental confirmation available.; 


uniprotID: Q96DZ9
geneSymbol: CMTM5
length: 223
go: ENSG00000166091;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
CKLF-like MARVEL transmembrane domain-containing protein 5 (Chemokine-like factor superfamily member 5)

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; cytokine activity [GO:0005125]; chemotaxis [GO:0006935]; negative regulation of myoblast differentiation [GO:0045662]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96DZ9-1; Sequence=Displayed; Name=2; IsoId=Q96DZ9-2; Sequence=VSP_008265; Name=3; IsoId=Q96DZ9-3; Sequence=VSP_008262, VSP_008265; Name=4; IsoId=Q96DZ9-4; Sequence=VSP_008264; Name=5; IsoId=Q96DZ9-5; Sequence=VSP_008263; Name=6; IsoId=Q96DZ9-6; Sequence=VSP_047120; 


uniprotID: Q96FZ5
geneSymbol: CMTM7
length: 175
go: ENSG00000153551;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
CKLF-like MARVEL transmembrane domain-containing protein 7 (Chemokine-like factor superfamily member 7)

sequence:
MSHGAGLVRTTCSSGSALGPGAGAAQPSASPLEGLLDLSYPRTHAALLKVAQMVTLLIAFICVRSSLWTNYSAYSYFEVVTICDLIMILAFYLVHLFRFYRVLTCISWPLSELLHYLIGTLLLLIASIVAASKSYNQSGLVAGAIFGFMATFLCMASIWLSYKISCVTQSTDAAV

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; cytokine activity [GO:0005125]; B-1a B cell differentiation [GO:0002337]; chemotaxis [GO:0006935]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96FZ5-1; Sequence=Displayed; Name=2; IsoId=Q96FZ5-2; Sequence=VSP_042566; Note=No experimental confirmation available.; 


uniprotID: Q9UBR5
geneSymbol: CKLF
name: Chemokine-like factor (C32)
length: 152
go: ENSG00000217555;
sequence:
MDNVQPKIKHRPFCFSVKGHVKMLRLALTVTSMTFFIIAQAPEPYIVITGFEVTVILFFILLYVLRLDRLMKWLFWPLLDIINSLVTTVFMLIVSVLALIPETTTLTVGGGVFALVTAVCCLADGALIYRKLLFNPSGPYQKKPVHEKKEVL

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; chemokine activity [GO:0008009]; cell proliferation [GO:0008283]; lymphocyte chemotaxis [GO:0048247]; macrophage chemotaxis [GO:0048246]; neutrophil chemotaxis [GO:0030593]; secretion by cell [GO:0032940]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; Synonyms=CKLF2 {ECO:0000269|PubMed:11415443}; IsoId=Q9UBR5-1; Sequence=Displayed; Name=1; Synonyms=CKLF1 {ECO:0000269|PubMed:11415443}; IsoId=Q9UBR5-2; Sequence=VSP_050605; Name=3; Synonyms=CKLF3 {ECO:0000269|PubMed:11415443}; IsoId=Q9UBR5-3; Sequence=VSP_050605, VSP_050606; Name=4; Synonyms=CKLF4 {ECO:0000269|PubMed:11415443}; IsoId=Q9UBR5-4; Sequence=VSP_050606; Name=5; IsoId=Q9UBR5-5; Sequence=VSP_041445, VSP_041446; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted {ECO:0000269|PubMed:11415443, ECO:0000269|PubMed:16137713}.; SUBCELLULAR LOCATION: Isoform 2: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q00994
geneSymbol: BEX3
reactome: R-HSA-205025;
pdb: 1SA6;
length: 111
go: ENSG00000166681;
name:
Protein BEX3 (Brain-expressed X-linked protein 3) (Nerve growth factor receptor-associated protein 1) (Ovarian granulosa cell 13.0 kDa protein HGR74) (p75NTR-associated cell death executor)

sequence:
MANIHQENEEMEQPMQNGEEDRPLGGGEGHQPAGNRRGQARRLAPNFRWAIPNRQINDGMGGDGDDMEIFMEEMREIRRKLRELQLRNCLRILMGELSNHHDHHDEFCLMP

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; nerve growth factor receptor binding [GO:0005163]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; multicellular organism development [GO:0007275]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q00994-1; Sequence=Displayed; Name=2; IsoId=Q00994-2; Sequence=VSP_046343; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and the nucleus. Associates with replicating mitochondria (By similarity). {ECO:0000250}.


uniprotID: P61024
geneSymbol: CKS1B
reactome: R-HSA-187577;R-HSA-69231;
pdb: 1BUH;1DKS;1DKT;2ASS;2AST;4YC6;
name: Cyclin-dependent kinases regulatory subunit 1 (CKS-1)
sequence: MSHKQIYYSDKYDDEEFEYRHVMLPKDIAKLVPKTHLMSESEWRNLGVQQSQGWVHYMIHEPEPHILLFRRPLPKKPKK
length: 79
go: ENSG00000173207;
drug: DB02681;
opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; nucleoplasm [GO:0005654]; SCF ubiquitin ligase complex [GO:0019005]; cyclin-dependent protein serine/threonine kinase activator activity [GO:0061575]; histone binding [GO:0042393]; protein kinase binding [GO:0019901]; ubiquitin binding [GO:0043130]; cell division [GO:0051301]; cell proliferation [GO:0008283]; mitotic cell cycle phase transition [GO:0044772]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; regulation of mitotic cell cycle [GO:0007346]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q5H9J7
geneSymbol: BEX5
length: 111
go: ENSG00000184515;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15958283}.
name:
Protein BEX5 (Brain-expressed X-linked protein 5) (NGFRAP1-like protein 1) (Nerve growth factor receptor-associated protein 2)

sequence:
MENVPKENKVVEKAPVQNEAPALGGGEYQEPGGNVKGVWAPPAPGFGEDVPNRLVDNIDMIDGDGDDMERFMEEMRELRRKIRELQLRYSLRILIGDPPHHDHHDEFCLMP


uniprotID: P33552
geneSymbol: CKS2
pdb: 1CKS;4Y72;4YC3;5HQ0;5LQF;
name: Cyclin-dependent kinases regulatory subunit 2 (CKS-2)
sequence: MAHKQIYYSDKYFDEHYEYRHVMLPRELSKQVPKTHLMSEEEWRRLGVQQSLGWVHYMIHEPEPHILLFRRPLPKDQQK
length: 79
go: ENSG00000123975;
opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; SCF ubiquitin ligase complex [GO:0019005]; chromatin binding [GO:0003682]; cyclin-dependent protein serine/threonine kinase activator activity [GO:0061575]; histone binding [GO:0042393]; protein kinase binding [GO:0019901]; ubiquitin binding [GO:0043130]; cell division [GO:0051301]; cell proliferation [GO:0008283]; meiosis I [GO:0007127]; mitotic cell cycle phase transition [GO:0044772]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; regulation of mitotic cell cycle [GO:0007346]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q8N6U2
geneSymbol: LINC00612
name: Putative uncharacterized protein encoded by LINC00612
length: 182
sequence:
MRRCRRCARWPHRCPGPQSGPRSHFSPWPRTLGPAPALCVRTPLRPGPSSALGPLSACPSVPDYTASPPAGDSARSIVAASRAAGSGSTPGAGSKDCSPPPHSHSAAAAGESGDIGPGSGAVEAPGRGARRPTRQREDGGGAVGCFGVSRHRGREAQMSHSSHCGSRSCSAAAARPSLLQLA


uniprotID: Q495D7
geneSymbol: LINC01559
name: Putative uncharacterized protein encoded by LINC01559
length: 138
snps: rs11055389 rs17821405 rs7308685
sequence:
MERFLNSKARRLGSCSHPAFYLLCVPDEDTSCSTIYLPLKRRADPDQLFSDLLGGTQRLWSNRFGNEESFPGRVRALVDTFCWIARAPPLGNPLRLEERIAWRIQRLKSGQTALIEKKKQKIEEDVRHQCQQTTCDRC


uniprotID: Q96LP6
geneSymbol: C12orf42
name: Uncharacterized protein C12orf42
length: 360
go: ENSG00000179088;
snps: rs10778257 rs7484376
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96LP6-1; Sequence=Displayed; Name=2; IsoId=Q96LP6-2; Sequence=VSP_022691; Note=No experimental confirmation available.; Name=3; IsoId=Q96LP6-3; Sequence=VSP_022692, VSP_022693; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9H741
geneSymbol: C12orf49
name: UPF0454 protein C12orf49
length: 205
go: ENSG00000111412;
opentargets: extracellular region [GO:0005576]
snps: rs10507274
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q8N7H1
geneSymbol: LINC01465
name: Putative uncharacterized protein encoded by LINC01465
length: 131
sequence:
MGGKSAVRHQLVLDCPREAASSAPALRPLGAAATSRAAPLAPLPAPSPRWGLGCGRVRYPGPHPRRAVEPAAGPLSAPIIAGGHPAEAAAGSAKQQPRHSREVPRPPVPQHPSGNSRSALQEAKTEQTKTP


uniprotID: Q9H3J6
geneSymbol: C12orf65
name: Probable peptide chain release factor C12orf65, mitochondrial
length: 166
go: ENSG00000130921;
snps: rs1045496
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20186120}.
sequence:
MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTPVQMAGKKDYPALLSLDENELEEQFVKGHGPGGQATNKTSNCVVLKHIPSGIVVKCHQTRSVDQNRKLARKILQEKVDVFYNGENSPVHKEKREAAKKKQERKKRAKETLEKKKLLKELWESSKKVH

opentargets:
mitochondrial large ribosomal subunit [GO:0005762]; mitochondrion [GO:0005739]; translation release factor activity [GO:0003747]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3J6-1; Sequence=Displayed; Name=2; IsoId=Q9H3J6-2; Sequence=VSP_029602, VSP_029603; 


uniprotID: Q96MD2
geneSymbol: C12orf66
name: KICSTOR complex protein C12orf66
length: 445
snps: rs2335390 rs699638
location: SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:28199306}.
sequence:

opentargets:
KICSTOR complex [GO:0140007]; lysosomal membrane [GO:0005765]; cellular response to amino acid starvation [GO:0034198]; cellular response to glucose starvation [GO:0042149]; negative regulation of TORC1 signaling [GO:1904262]; protein localization to lysosome [GO:0061462]


uniprotID: Q96M19
geneSymbol: LINC00477
name: Putative transmembrane protein encoded by LINC00477
length: 166
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MLPFFSNTTSKSVSVSSFQGSPATPLSFLFFFFLCRAGSSMTGCFTFFLDFIFFFAGVLGPSPMGMYSGASTLTGFFLLRFLGQLSMDLEGLEWLGRASPSWWIFFSSSPSHRVPWGSCASASAPRLPVPHPPSPLSKCPQHPRPRRTKGPGLRKLWGPGPPFFPS


uniprotID: Q13515
geneSymbol: BFSP2
length: 415
go: ENSG00000170819;
snps: rs104893685
name:
Phakinin (49 kDa cytoskeletal protein) (Beaded filament structural protein 2) (Lens fiber cell beaded filament protein CP 47) (CP47) (Lens fiber cell beaded filament protein CP 49) (CP49) (Lens intermediate filament-like light) (LIFL-L)

sequence:

opentargets:
cell cortex [GO:0005938]; intermediate filament [GO:0005882]; plasma membrane [GO:0005886]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of eye lens [GO:0005212]; cell maturation [GO:0048469]; intermediate filament cytoskeleton organization [GO:0045104]; lens fiber cell development [GO:0070307]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q28177}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q28177}; Cytoplasmic side {ECO:0000250|UniProtKB:Q28177}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q28177}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q28177}. Note=Detected adjacent to the cell membrane. {ECO:0000250|UniProtKB:Q28177}.


uniprotID: Q8N812
geneSymbol: C12orf76
name: Uncharacterized protein C12orf76
length: 135
go: ENSG00000174456;
sequence:
MFQNLQGTFEKEIGKIIPFTIAFKRAEAVEPDGCVQSWRCCLPCDLGQASRFIHTTVCSAIRWRSCKGERNFAERHILPAELEEQSNHAGMGPILPAMPSVDGNHFQHPAGDCHPYGILCLQAHSASVTARQVLQ


uniprotID: P0DPE3
geneSymbol: C12orf81
name: Uncharacterized protein C12orf81
length: 317
opentargets: integral component of membrane [GO:0016021]; signal transduction [GO:0007165]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.
sequence:


uniprotID: C9JDV5
geneSymbol: C12orf77
name: Putative uncharacterized protein C12orf77
length: 145
snps: rs864161
sequence:
MIPKLATPRDISLLVIKEASSRARNNIQILDPLDHIARLTNYTLTSCFSSNKVPTMPGSLPTGSKQGNVQTLDSIRWMPATPVPAPECHQKYAISTETAFPTLSTFMNTEKSVKGSNADFTKRNPRWRFLLGIYCSLHHAMTIFI


uniprotID: Q2KHT3
geneSymbol: CLEC16A
name: Protein CLEC16A (C-type lectin domain family 16 member A)
length: 1053
go: ENSG00000038532;
snps: rs2241100
sequence:

opentargets:
cytosol [GO:0005829]; endolysosome membrane [GO:0036020]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; vesicle [GO:0031982]; Rab GTPase binding [GO:0017137]; autophagy [GO:0006914]; cellular response to starvation [GO:0009267]; endosomal transport [GO:0016197]; endosome to lysosome transport [GO:0008333]; negative regulation of autophagosome maturation [GO:1901097]; negative regulation of macroautophagy by TORC1 signaling [GO:1904766]; negative regulation of mitophagy [GO:1901525]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; positive regulation of autophagosome maturation [GO:1901098]; positive regulation of TORC1 signaling [GO:1904263]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2KHT3-1; Sequence=Displayed; Name=2; IsoId=Q2KHT3-2; Sequence=VSP_022746, VSP_022747, VSP_022748, VSP_022750; Name=3; IsoId=Q2KHT3-3; Sequence=VSP_022745, VSP_022749; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000250|UniProtKB:Q80U30}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q80U30}. Lysosome membrane {ECO:0000250|UniProtKB:Q80U30}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q80U30}. Note=Associates with the endolysosome membrane. {ECO:0000250|UniProtKB:Q80U30}.


uniprotID: A5D8T8
geneSymbol: CLEC18A
name: C-type lectin domain family 18 member A (Mannose receptor-like protein 2)
length: 446
snps: rs2549097 rs75776403
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; polysaccharide binding [GO:0030247]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A5D8T8-1; Sequence=Displayed; Name=2; IsoId=A5D8T8-2; Sequence=VSP_032204, VSP_032205; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:26170455}. Endoplasmic reticulum {ECO:0000305|PubMed:26170455}. Golgi apparatus {ECO:0000305|PubMed:26170455}. Endosome {ECO:0000305|PubMed:26170455}.


uniprotID: Q8NCF0
geneSymbol: CLEC18C
name: C-type lectin domain family 18 member C (Mannose receptor-like protein 3)
length: 446
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; polysaccharide binding [GO:0030247]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCF0-1; Sequence=Displayed; Name=2; IsoId=Q8NCF0-2; Sequence=VSP_032206, VSP_032207; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:A5D8T8}. Endoplasmic reticulum {ECO:0000305|PubMed:26170455}. Golgi apparatus {ECO:0000305|PubMed:26170455}. Endosome {ECO:0000305|PubMed:26170455}.


uniprotID: P16619
geneSymbol: CCL3L1; CCL3L3
reactome: R-HSA-6783783;
sequence: MQVSTAALAVLLCTMALCNQVLSAPLAADTPTACCFSYTSRQIPQNFIADYFETSSQCSKPSVIFLTKRGRQVCADPSEEWVQKYVSDLELSA
length: 93
go: ENSG00000276085;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 3-like 1 (G0/G1 switch regulatory protein 19-2) (LD78-beta(1-70)) (PAT 464.2) (Small-inducible cytokine A3-like 1) (Tonsillar lymphocyte LD78 beta protein) [Cleaved into: LD78-beta(3-70); LD78-beta(5-70)]

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; chemokine activity [GO:0008009]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; cytokine-mediated signaling pathway [GO:0019221]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; negative regulation of cell proliferation [GO:0008285]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of inflammatory response [GO:0050729]


uniprotID: Q86T13
geneSymbol: CLEC14A
name: C-type lectin domain family 14 member A (Epidermal growth factor receptor 5) (EGFR-5)
length: 490
go: ENSG00000176435;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; extracellular matrix binding [GO:0050840]; extracellular matrix protein binding [GO:1990430]; cell migration [GO:0016477]; cell migration involved in sprouting angiogenesis [GO:0002042]


uniprotID: Q8NC01
geneSymbol: CLEC1A
name: C-type lectin domain family 1 member A (C-type lectin-like receptor 1) (CLEC-1)
length: 280
go: ENSG00000150048;
snps: rs2306894
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; carbohydrate binding [GO:0030246]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; defense response [GO:0006952]


uniprotID: Q9P126
geneSymbol: CLEC1B
reactome: R-HSA-114604;
pdb: 2C6U;3WSR;3WWK;
name: C-type lectin domain family 1 member B (C-type lectin-like receptor 2) (CLEC-2)
length: 229
go: ENSG00000165682;
snps: rs612593 rs2273986 rs2273987 rs583903
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; defense response [GO:0006952]; platelet activation [GO:0030168]; platelet formation [GO:0030220]; signal transduction by protein phosphorylation [GO:0023014]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P126-1; Sequence=Displayed; Name=2; IsoId=Q9P126-2; Sequence=VSP_023515; 


uniprotID: Q6UVW9
geneSymbol: CLEC2A
pdb: 4IOP;
length: 174
go: ENSG00000188393;
snps: rs526680
name:
C-type lectin domain family 2 member A (Keratinocyte-associated C-type lectin) (KACL) (Proliferation-induced lymphocyte-associated receptor) (PILAR)

sequence:
MINPELRDGRADGFIHRIVPKLIQNWKIGLMCFLSIIITTVCIIMIATWSKHAKPVACSGDWLGVRDKCFYFSDDTRNWTASKIFCSLQKAELAQIDTQEDMEFLKRYAGTDMHWIGLSRKQGDSWKWTNGTTFNGWFEIIGNGSFAFLSADGVHSSRGFIDIKWICSKPKYFL

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; protein homodimerization activity [GO:0042803]; natural killer cell mediated cytotoxicity [GO:0042267]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CLEC2A1; IsoId=Q6UVW9-1; Sequence=Displayed; Name=2; Synonyms=CLEC2A2; IsoId=Q6UVW9-2; Sequence=VSP_035643; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18046548, ECO:0000269|PubMed:18550855}; Single-pass type II membrane protein {ECO:0000269|PubMed:18046548, ECO:0000269|PubMed:18550855}.


uniprotID: Q9UHP7
geneSymbol: CLEC2D
reactome: R-HSA-198933;
pdb: 4QKG;4QKH;4QKI;4QKJ;4WCO;5MGT;
length: 191
go: ENSG00000069493;
snps: rs16914640 rs3764022
name:
C-type lectin domain family 2 member D (Lectin-like NK cell receptor) (Lectin-like transcript 1) (LLT-1) (Osteoclast inhibitory lectin)

sequence:
MHDSNNVEKDITPSELPANPGCLHSKEHSIKATLIWRLFFLIMFLTIIVCGMVAALSAIRANCHQEPSVCLQAACPESWIGFQRKCFYFSDDTKNWTSSQRFCDSQDADLAQVESFQELNFLLRYKGPSDHWIGLSREQGQPWKWINGTEWTRQFPILGAGECAYLNDKGASSARHYTERKWICSKSDIHV

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9UHP7-1; Sequence=Displayed; Name=3; IsoId=Q9UHP7-2; Sequence=VSP_039682; Name=2; IsoId=Q9UHP7-3; Sequence=VSP_039683; Name=4; IsoId=Q9UHP7-5; Sequence=VSP_039678; Name=5; IsoId=Q9UHP7-6; Sequence=VSP_039676; Name=6; IsoId=Q9UHP7-7; Sequence=VSP_039676, VSP_039680, VSP_039681; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15104121, ECO:0000269|PubMed:20843815, ECO:0000305|PubMed:16339513}; Single-pass type II membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum {ECO:0000269|PubMed:20843815}.; SUBCELLULAR LOCATION: Isoform 4: Endoplasmic reticulum {ECO:0000269|PubMed:20843815}.


uniprotID: P16278
geneSymbol: GLB1
reactome: R-HSA-1660662;R-HSA-2022857;R-HSA-2024096;R-HSA-2206308;R-HSA-4085001;R-HSA-6798695;
pdb: 3THC;3THD;3WEZ;3WF0;3WF1;3WF2;3WF3;3WF4;
name: Beta-galactosidase (EC 3.2.1.23) (Acid beta-galactosidase) (Lactase) (Elastin receptor 1)
length: 677
snps: rs7637099 rs35289681 rs34421970 rs4302331
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; perinuclear region of cytoplasm [GO:0048471]; vacuole [GO:0005773]; beta-galactosidase activity [GO:0004565]; exo-alpha-sialidase activity [GO:0004308]; galactoside binding [GO:0016936]; protein homodimerization activity [GO:0042803]; cellular carbohydrate metabolic process [GO:0044262]; galactose catabolic process [GO:0019388]; glycosaminoglycan catabolic process [GO:0006027]; glycosphingolipid metabolic process [GO:0006687]; keratan sulfate catabolic process [GO:0042340]; neutrophil degranulation [GO:0043312]; response to cortisone [GO:0051413]; response to Thyroglobulin triiodothyronine [GO:1904016]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P16278-1; Sequence=Displayed; Name=2; Synonyms=Beta-galactosidase-related protein {ECO:0000303|PubMed:2511208}, Beta-galactosidase-like protein, S-Gal {ECO:0000303|PubMed:8383699}, Elastin-binding protein, EBP {ECO:0000303|PubMed:9497360}; IsoId=P16278-2, P16279-1; Sequence=VSP_031241; Name=3; IsoId=P16278-3; Sequence=VSP_039974; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Lysosome {ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:3084261}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, perinuclear region {ECO:0000269|PubMed:2511208}. Note=Localized to the perinuclear area of the cytoplasm but not to lysosomes. {ECO:0000269|PubMed:2511208}.


uniprotID: Q8WXI8
geneSymbol: CLEC4D
reactome: R-HSA-5621480;R-HSA-6798695;
pdb: 2LS8;3WHD;
length: 215
go: ENSG00000166527;
snps: rs4304840
name:
C-type lectin domain family 4 member D (C-type lectin superfamily member 8) (C-type lectin-like receptor 6) (CLEC-6) (CD antigen CD368)

sequence:

opentargets:
ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; carbohydrate binding [GO:0030246]; immunoglobulin receptor binding [GO:0034987]; metal ion binding [GO:0046872]; adaptive immune response [GO:0002250]; defense response to bacterium [GO:0042742]; Fc-gamma receptor signaling pathway [GO:0038094]; innate immune response [GO:0045087]; neutrophil degranulation [GO:0043312]; positive regulation of myeloid dendritic cell activation [GO:0030887]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell differentiation involved in immune response [GO:0002292]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q69FH1, ECO:0000250|UniProtKB:Q9Z2H6}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q8N1N0
geneSymbol: CLEC4F
name: C-type lectin domain family 4 member F (C-type lectin superfamily member 13) (C-type lectin 13)
length: 589
go: ENSG00000152672;
snps: rs2075221 rs722896 rs2287101
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; endocytosis [GO:0006897]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N1N0-1; Sequence=Displayed; Name=2; IsoId=Q8N1N0-2; Sequence=VSP_056330; Note=No experimental confirmation available.; 


uniprotID: Q6UXB4
geneSymbol: CLEC4G
reactome: R-HSA-198933;
length: 293
go: ENSG00000182566;
name:
C-type lectin domain family 4 member G (Liver and lymph node sinusoidal endothelial cell C-type lectin) (LSECtin)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; polysaccharide binding [GO:0030247]; virus receptor activity [GO:0001618]; negative regulation of T cell mediated immunity [GO:0002710]; negative regulation of T cell proliferation [GO:0042130]; regulation of immune response [GO:0050776]

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein {ECO:0000269|PubMed:14711836}.


uniprotID: Q9UJ71
geneSymbol: CD207
reactome: R-HSA-1236978;
name: C-type lectin domain family 4 member K (Langerin) (CD antigen CD207)
length: 328
go: ENSG00000116031;
snps: rs10489990 rs17718987 rs17006436 rs200837270 rs741326 rs13383830 rs2080391
pdb:
3C22;3KQG;3P5D;3P5E;3P5F;3P5G;3P5H;3P5I;3P7F;3P7G;3P7H;4AK8;4N32;4N33;4N34;4N35;4N36;4N37;4N38;5G6U;

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; early endosome membrane [GO:0031901]; endocytic vesicle [GO:0030139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; mannose binding [GO:0005537]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; defense response to virus [GO:0051607]; receptor-mediated endocytosis [GO:0006898]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10661407}; Single-pass type II membrane protein {ECO:0000269|PubMed:10661407}. Note=Found in Birbeck granules (BGs), which are organelles consisting of superimposed and zippered membranes.


uniprotID: Q9H2X3
geneSymbol: CLEC4M
pdb: 1K9J;1SL6;1XAR;1XPH;1Z0Y;3JQH;
length: 399
go: ENSG00000104938;
snps: rs11465376 rs479448 rs479448 rs2277998
name:
C-type lectin domain family 4 member M (CD209 antigen-like protein 1) (DC-SIGN-related protein) (DC-SIGNR) (Dendritic cell-specific ICAM-3-grabbing non-integrin 2) (DC-SIGN2) (Liver/lymph node-specific ICAM-3-grabbing non-integrin) (L-SIGN) (CD antigen CD299)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; host cell [GO:0043657]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; calcium-dependent protein binding [GO:0048306]; carbohydrate binding [GO:0030246]; ICAM-3 receptor activity [GO:0030369]; mannose binding [GO:0005537]; metal ion binding [GO:0046872]; peptide antigen binding [GO:0042605]; signaling receptor activity [GO:0038023]; virion binding [GO:0046790]; virus receptor activity [GO:0001618]; adaptive immune response [GO:0002250]; antigen processing and presentation [GO:0019882]; cell-cell recognition [GO:0009988]; endocytosis [GO:0006897]; innate immune response [GO:0045087]; intracellular signal transduction [GO:0035556]; intracellular transport of virus [GO:0075733]; leukocyte cell-cell adhesion [GO:0007159]; modulation by virus of host morphology or physiology [GO:0019048]; peptide antigen transport [GO:0046968]; viral genome replication [GO:0019079]; virion attachment to host cell [GO:0019062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Comment=Additional isoforms seem to exist. Several splicing events may occur independently in a modular way. Deletion of the transmembrane domain encoding exon through alternative splicing produces soluble isoforms.; Name=1; Synonyms=mDC-SIGN2 type I; IsoId=Q9H2X3-1; Sequence=Displayed; Name=2; Synonyms=mDC-SIGN2 type III, mDC-SIGN2 type IV; IsoId=Q9H2X3-2; Sequence=VSP_010063, VSP_010064; Note=May be due to intron retention.; Name=3; Synonyms=mDC-SIGN2 type V; IsoId=Q9H2X3-3; Sequence=VSP_010065, VSP_010066; Name=4; Synonyms=mDC-SIGN2 type VI; IsoId=Q9H2X3-4; Sequence=VSP_010060, VSP_010062, VSP_010065, VSP_010066; Name=5; Synonyms=sDC-SIGN2 type I; IsoId=Q9H2X3-5; Sequence=VSP_010058, VSP_010061, VSP_010062; Name=6; Synonyms=sDC-SIGN2 type II; IsoId=Q9H2X3-6; Sequence=VSP_010058, VSP_010063, VSP_010064; Note=May be due to intron retention.; Name=7; Synonyms=sDC-SIGN2 type III; IsoId=Q9H2X3-7; Sequence=VSP_010058, VSP_010059; Name=8; IsoId=Q9H2X3-8; Sequence=VSP_010061; Note=Non-canonical intron-exon splice junction.; Name=9; IsoId=Q9H2X3-9; Sequence=VSP_010056, VSP_010065, VSP_010066; Name=10; IsoId=Q9H2X3-10; Sequence=VSP_010056, VSP_010057, VSP_010063, VSP_010064; Note=May be due to intron retention.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 6: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 7: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 10: Secreted {ECO:0000305}.


uniprotID: P16442
geneSymbol: ABO
length: 354
drug: DB04681;DB04680;DB03501;DB04679;DB04678;DB07633;DB03435;DB02196;
pdb:
1LZ0;1LZ7;1LZI;1LZJ;1R7T;1R7U;1R7V;1R7X;1R7Y;1R80;1R81;1R82;1WSZ;1WT0;1WT1;1WT2;1WT3;1XZ6;1ZHJ;1ZI1;1ZI3;1ZI4;1ZI5;1ZIZ;1ZJ0;1ZJ1;1ZJ2;1ZJ3;1ZJO;1ZJP;2A8U;2A8W;2I7B;2O1F;2O1G;2O1H;2PGV;2PGY;2RIT;2RIX;2RIY;2RIZ;2RJ0;2RJ1;2RJ4;2RJ5;2RJ6;2RJ7;2RJ8;2RJ9;2Y7A;3I0C;3I0D;3I0E;3I0F;3I0G;3I0H;3I0I;3I0J;3I0K;3I0L;3IOH;3IOI;3IOJ;3SX3;3SX5;3SX7;3SX8;3SXA;3SXB;3SXC;3SXD;3SXE;3SXG;3U0X;3U0Y;3V0L;3V0M;3V0N;3V0O;3V0P;3V0Q;3ZGF;3ZGG;4C2S;4FQW;4FRA;4FRB;4FRD;4FRE;4FRH;4FRL;4FRM;4FRO;4FRP;4FRQ;4GBP;4KC1;4KC2;4KC4;4KXO;4Y62;4Y63;4Y64;5BXC;5C1G;5C1H;5C1L;5C36;5C38;5C3A;5C3B;5C3D;5C47;5C48;5C49;5C4B;5C4C;5C4D;5C4E;5C4F;5C8R;5CMF;5CMG;5CMH;5CMI;5CMJ;5CQL;5CQM;5CQN;5CQO;5CQP;5M79;5M7A;5M7B;5M7C;5M7D;5TJK;5TJL;5TJN;5TJO;6BJI;

name:
Histo-blood group ABO system transferase (Fucosylglycoprotein 3-alpha-galactosyltransferase) (Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase) (Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase) (EC 2.4.1.40) (Glycoprotein-fucosylgalactoside alpha-galactosyltransferase) (EC 2.4.1.37) (Histo-blood group A transferase) (A transferase) (Histo-blood group B transferase) (B transferase) (NAGAT) [Cleaved into: Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form]

sequence:

opentargets:
extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; vesicle [GO:0031982]; antigen binding [GO:0003823]; fucosylgalactoside 3-alpha-galactosyltransferase activity [GO:0004381]; glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity [GO:0004380]; manganese ion binding [GO:0030145]; nucleotide binding [GO:0000166]; transferase activity, transferring glycosyl groups [GO:0016757]; carbohydrate metabolic process [GO:0005975]; lipid glycosylation [GO:0030259]; protein glycosylation [GO:0006486]

snps:
rs8176696 rs688976 rs549446 rs512770 rs1053878 rs8176738 rs55756402 rs7853989 rs8176739 rs8176740 rs8176743 rs8176745 rs8176746 rs8176747 rs41302905 rs8176748 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid.


uniprotID: Q9BXN2
geneSymbol: CLEC7A
reactome: R-HSA-5607764;
length: 247
go: ENSG00000172243;
snps: rs16910527
name:
C-type lectin domain family 7 member A (Beta-glucan receptor) (C-type lectin superfamily member 12) (Dendritic cell-associated C-type lectin 1) (DC-associated C-type lectin 1) (Dectin-1) (CD antigen CD369)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; MHC protein binding [GO:0042287]; signaling pattern recognition receptor activity [GO:0008329]; carbohydrate mediated signaling [GO:0009756]; cell recognition [GO:0008037]; defense response to protozoan [GO:0042832]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; phagocytosis, recognition [GO:0006910]; T cell activation [GO:0042110]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; Synonyms=A; IsoId=Q9BXN2-1; Sequence=Displayed; Name=2; Synonyms=Beta, B; IsoId=Q9BXN2-2; Sequence=VSP_022051; Note=Predominant isoform.; Name=3; Synonyms=C; IsoId=Q9BXN2-3; Sequence=VSP_022053, VSP_022056; Name=4; Synonyms=G; IsoId=Q9BXN2-4; Sequence=VSP_022052, VSP_022057; Name=5; Synonyms=E; IsoId=Q9BXN2-5; Sequence=VSP_022048; Name=6; IsoId=Q9BXN2-6; Sequence=VSP_022051, VSP_022054, VSP_022055; Name=7; Synonyms=D; IsoId=Q9BXN2-7; Sequence=VSP_022051, VSP_022053, VSP_022056; Name=8; Synonyms=F; IsoId=Q9BXN2-8; Sequence=VSP_022049, VSP_022050; Name=9; IsoId=Q9BXN2-9; Sequence=VSP_043298, VSP_043299; Note=No experimental confirmation available.; Name=10; IsoId=Q9BXN2-10; Sequence=VSP_047589, VSP_047590; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11745369, ECO:0000269|PubMed:16870151, ECO:0000269|PubMed:17230442}; Single-pass type II membrane protein {ECO:0000269|PubMed:11745369, ECO:0000269|PubMed:16870151, ECO:0000269|PubMed:17230442}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 7: Cytoplasm {ECO:0000305}.


uniprotID: Q6ZT62
geneSymbol: BARGIN
name: Bargin (Chimeric SH3BP1-PDXP protein)
length: 677
sequence:

opentargets:
cytosol [GO:0005829]; extrinsic component of plasma membrane [GO:0019897]; GTPase activator activity [GO:0005096]; linear polyubiquitin binding [GO:1990450]; negative regulation of small GTPase mediated signal transduction [GO:0051058]; positive regulation of GTPase activity [GO:0043547]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=5;  Name=Long BGIN {ECO:0000303|PubMed:23223568}; IsoId=Q6ZT62-1; Sequence=Displayed; Note=Based on a naturally occurring readthrough transcript which produces a SH3BP1-PDXP fusion protein. Translation initiation occurs at a non-canonical CUG codon. {ECO:0000269|PubMed:23223568}; Name=Short BGIN {ECO:0000303|PubMed:23223568}; IsoId=Q6ZT62-2; Sequence=VSP_059138; Note=Produced by alternative initiation at Met-73 of isoform long BGIN. {ECO:0000269|PubMed:23223568}; Name=1; IsoId=Q9Y3L3-1; Sequence=External; Name=2; IsoId=Q9Y3L3-2; Sequence=External; Name=CIN {ECO:0000303|PubMed:23223568}; IsoId=Q96GD0-1; Sequence=External; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23223568}; Peripheral membrane protein {ECO:0000305|PubMed:23223568}. Cytoplasm, cytosol {ECO:0000269|PubMed:23223568}. Note=Localization to membranes is increased by binding of poly-ubiquitin chains (PubMed:23223568). Enriched in tangle aggregates in cells of Alzheimer's disease brain (PubMed:23223568). {ECO:0000269|PubMed:23223568}.


uniprotID: Q96S66
geneSymbol: CLCC1
name: Chloride channel CLIC-like protein 1 (Mid-1-related chloride channel protein 1)
length: 551
go: ENSG00000121940;
snps: rs168107
sequence:

opentargets:
chloride channel complex [GO:0034707]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleus [GO:0005634]; chloride channel activity [GO:0005254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=hMCLC-1; IsoId=Q96S66-1; Sequence=Displayed; Name=2; Synonyms=hMCLC-2; IsoId=Q96S66-2; Sequence=VSP_027349; Name=3; Synonyms=hMCLC-3; IsoId=Q96S66-3; Sequence=VSP_027348; Name=4; Synonyms=hMCLC-4; IsoId=Q96S66-4; Sequence=VSP_027347; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum. Golgi apparatus. Nucleus {ECO:0000250}.


uniprotID: P56856
geneSymbol: CLDN18
reactome: R-HSA-420029;
name: Claudin-18
length: 261
go: ENSG00000066405;
snps: rs17204075
location: SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; digestive tract development [GO:0048565]; negative regulation of bone resorption [GO:0045779]; negative regulation of osteoclast development [GO:2001205]; negative regulation of protein localization to nucleus [GO:1900181]; response to ethanol [GO:0045471]; TNFSF11-mediated signaling pathway [GO:0071847]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A1; IsoId=P56856-1; Sequence=Displayed; Name=A2; IsoId=P56856-2; Sequence=VSP_001102; 


uniprotID: Q8N6F1
geneSymbol: CLDN19
reactome: R-HSA-420029;
name: Claudin-19
length: 224
go: ENSG00000164007;
snps: rs12065961 rs118203979 rs118203980 rs118203981
location: SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
apical junction complex [GO:0043296]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; apical junction assembly [GO:0043297]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; neuronal action potential propagation [GO:0019227]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N6F1-1; Sequence=Displayed; Name=2; IsoId=Q8N6F1-2; Sequence=VSP_010342; Name=3; IsoId=Q8N6F1-3; Sequence=VSP_044839; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O95832
geneSymbol: CLDN1
reactome: R-HSA-420029;
name: Claudin-1 (Senescence-associated epithelial membrane protein)
length: 211
go: ENSG00000163347;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lateral plasma membrane [GO:0016328]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; virus receptor activity [GO:0001618]; aging [GO:0007568]; bicellular tight junction assembly [GO:0070830]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; cell-cell junction organization [GO:0045216]; cellular response to butyrate [GO:1903545]; cellular response to interferon-gamma [GO:0071346]; cellular response to lead ion [GO:0071284]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to tumor necrosis factor [GO:0071356]; drug transport across blood-nerve barrier [GO:0061772]; establishment of blood-nerve barrier [GO:0008065]; establishment of endothelial intestinal barrier [GO:0090557]; establishment of skin barrier [GO:0061436]; hyperosmotic salinity response [GO:0042538]; liver regeneration [GO:0097421]; positive regulation of bicellular tight junction assembly [GO:1903348]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; response to dexamethasone [GO:0071548]; response to ethanol [GO:0045471]; response to interleukin-18 [GO:0070673]; response to lipopolysaccharide [GO:0032496]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:20375010, ECO:0000269|PubMed:23407391}. Cell membrane {ECO:0000269|PubMed:23704991}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:20375010}. Note=Associates with CD81 and the CLDN1-CD81 complex localizes to the basolateral cell membrane. {ECO:0000269|PubMed:20375010}.


uniprotID: A6NM45
geneSymbol: CLDN24
name: Putative claudin-24 (Claudin-21)
length: 220
go: ENSG00000185758;
snps: rs7688467
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; structural molecule activity [GO:0005198]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250}. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: C9JDP6
geneSymbol: CLDN25
name: Putative claudin-25
length: 229
go: ENSG00000228607;
snps: rs35111413
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; structural molecule activity [GO:0005198]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250}. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: P57739
geneSymbol: CLDN2
reactome: R-HSA-420029;
pdb: 4YYX;
name: Claudin-2 (SP82)
length: 230
go: ENSG00000165376;
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250}. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: O14493
geneSymbol: CLDN4
reactome: R-HSA-420029;
pdb: 5B2G;
length: 209
go: ENSG00000189143;
name:
Claudin-4 (Clostridium perfringens enterotoxin receptor) (CPE-R) (CPE-receptor) (Williams-Beuren syndrome chromosomal region 8 protein)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; apicolateral plasma membrane [GO:0016327]; basal plasma membrane [GO:0009925]; bicellular tight junction [GO:0005923]; chloride channel complex [GO:0034707]; integral component of plasma membrane [GO:0005887]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; transmembrane signaling receptor activity [GO:0004888]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; circadian rhythm [GO:0007623]; establishment of skin barrier [GO:0061436]; female pregnancy [GO:0007565]; renal absorption [GO:0070293]; response to progesterone [GO:0032570]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250|UniProtKB:O35054}. Cell membrane {ECO:0000269|PubMed:20375010}; Multi-pass membrane protein {ECO:0000255}. Note=CLDN4 is required for tight junction localization in the kidney. {ECO:0000250|UniProtKB:O35054}.


uniprotID: P08236
geneSymbol: GUSB
reactome: R-HSA-2024096;R-HSA-2160916;R-HSA-2206292;R-HSA-6798695;
pdb: 1BHG;3HN3;
name: Beta-glucuronidase (EC 3.2.1.31) (Beta-G1)
length: 651
go: ENSG00000169919;
location: SUBCELLULAR LOCATION: Lysosome.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; membrane [GO:0016020]; beta-glucuronidase activity [GO:0004566]; carbohydrate binding [GO:0030246]; protein domain specific binding [GO:0019904]; signaling receptor binding [GO:0005102]; carbohydrate metabolic process [GO:0005975]; glucuronoside catabolic process [GO:0019391]; glycosaminoglycan catabolic process [GO:0006027]; hyaluronan catabolic process [GO:0030214]; neutrophil degranulation [GO:0043312]

snps:
rs747792546 rs1424546265 rs1417426295 rs121918177 rs149606212 rs121918181 rs121918174 rs886044680 rs121918182 rs191153460 rs121918175 rs398123234 rs771629102 rs747572640 rs11559283 rs121918173 rs779091113 rs751025746 rs774393243 rs121918178 rs121918183 rs1250112198 rs121918176 rs121918172 rs777613366 rs121918184 rs9530 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=P08236-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P08236-2; Sequence=VSP_001799; Name=3; IsoId=P08236-3; Sequence=VSP_054830; Note=No experimental confirmation available.; 


uniprotID: P56748
geneSymbol: CLDN8
reactome: R-HSA-420029;
name: Claudin-8
length: 225
go: ENSG00000156284;
snps: rs1557294 rs685967 rs686364
sequence:

opentargets:
apicolateral plasma membrane [GO:0016327]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:17287494}. Cell membrane {ECO:0000250|UniProtKB:Q9Z260}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes to tight junctions in all 3 segments of the epididymis, in the caput found in the lateral margins of principal cells, and in the corpus at the interface between basal and principal cells. {ECO:0000269|PubMed:17287494}.


uniprotID: Q8NHS1
geneSymbol: CLDND2
name: Claudin domain-containing protein 2
length: 167
go: ENSG00000160318;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MGVKRSLQSGGILLSLVANVLMVLSTATNYWTRQQEGHSGLWQECNHGICSSIPCQTTLAVTVACMVLAVGVGVVGMVMGLRIRCDEGESLRGQTTSAFLFLGGLLLLTALIGYTVKNAWKNNVFFSWSYFSGWLALPFSILAGFCFLLADMIMQSTDAISGFPVCL


uniprotID: P30622
geneSymbol: CLIP1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5626467;R-HSA-5663220;R-HSA-68877;
pdb: 2CP5;2CP6;2E3H;2E3I;2E4H;2HQH;2QK0;3E2U;3RDV;
length: 1438
go: ENSG00000130779;
snps: rs7963597 rs3741447 rs17883517 rs1129167 rs1183319975 rs17881033
name:
CAP-Gly domain-containing linker protein 1 (Cytoplasmic linker protein 1) (Cytoplasmic linker protein 170 alpha-2) (CLIP-170) (Reed-Sternberg intermediate filament-associated protein) (Restin)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasmic microtubule [GO:0005881]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; endosome [GO:0005768]; intermediate filament [GO:0005882]; kinetochore [GO:0000776]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule plus-end [GO:0035371]; nuclear envelope [GO:0005635]; ruffle [GO:0001726]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]; protein homodimerization activity [GO:0042803]; tubulin binding [GO:0015631]; zinc ion binding [GO:0008270]; microtubule bundle formation [GO:0001578]; mitotic cell cycle [GO:0000278]; positive regulation of microtubule polymerization [GO:0031116]; protein transport into plasma membrane raft [GO:0044861]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P30622-3; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=P30622-1; Sequence=VSP_038201; Name=3; Synonyms=Short; IsoId=P30622-2; Sequence=VSP_000765; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17889670, ECO:0000269|PubMed:21646404}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:12433698}; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle {ECO:0000269|PubMed:12433698}. Note=Localizes to microtubule plus ends (PubMed:21646404, PubMed:17889670). Localizes preferentially to the ends of tyrosinated microtubules (By similarity). Accumulates in plasma membrane regions with ruffling and protrusions. Associates with the membranes of intermediate macropinocytic vesicles (PubMed:12433698). {ECO:0000250|UniProtKB:Q922J3, ECO:0000269|PubMed:12433698, ECO:0000269|PubMed:17889670, ECO:0000269|PubMed:21646404}.


uniprotID: Q496F6
geneSymbol: CD300E
reactome: R-HSA-198933;R-HSA-2172127;
length: 205
go: ENSG00000186407;
snps: rs581157 rs1278044712 rs1878061
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
CMRF35-like molecule 2 (CLM-2) (CD300 antigen-like family member E) (CMRF35-A5) (Immune receptor expressed on myeloid cells 2) (IREM-2) (Polymeric immunoglobulin receptor 2) (PIgR-2) (PIgR2) (Poly-Ig receptor 2) (CD antigen CD300e)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; innate immune response [GO:0045087]; regulation of immune response [GO:0050776]


uniprotID: Q6UXZ3
geneSymbol: CD300LD
reactome: R-HSA-198933;
name: CMRF35-like molecule 4 (CLM-4) (CD300 antigen-like family member D) (CMRF35-A4) (CD antigen CD300d)
length: 194
go: ENSG00000204345;
snps: rs493430 rs783239
sequence:
MWLSPSLLLLILPGYSIAAKITGPTTVNGSEQGSLTVQCAYGSGWETYLKWRCQGADWNYCNILVKTNGSEQEVKKNRVSIRDNQKNHVFTVTMENLKRDDADSYWCGTERPGIDLGVKVQVTINPGTQTAVSEWTTTTASLAFTAAATQKTSSPLTRSPLKSTHFLFLFLLELPLLLSMLGTVLWVNRPQRRS

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; immune system process [GO:0002376]; regulation of immune response [GO:0050776]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22291008}; Single-pass type I membrane protein {ECO:0000269|PubMed:22291008}. Note=Cell surface localization requires the ITAM-bearing Fc receptor FCER1G to overcome ER retention.


uniprotID: Q7Z7G1
geneSymbol: CLNK
name: Cytokine-dependent hematopoietic cell linker (Mast cell immunoreceptor signal transducer)
length: 428
go: ENSG00000109684;
snps: rs16869924
sequence:

opentargets:
intracellular [GO:0005622]; SH3/SH2 adaptor activity [GO:0005070]; immune response [GO:0006955]; intracellular signal transduction [GO:0035556]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z7G1-1; Sequence=Displayed; Name=2; IsoId=Q7Z7G1-2; Sequence=VSP_030330, VSP_030332, VSP_030333; Name=3; IsoId=Q7Z7G1-3; Sequence=VSP_030331; 


uniprotID: Q6PL18
geneSymbol: ATAD2
reactome: R-HSA-8866910;
length: 1390
go: ENSG00000156802;
snps: rs3758122
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17998543}.
pdb:
3DAI;4QSP;4QSQ;4QSR;4QSS;4QST;4QSU;4QSV;4QSW;4QSX;4QUT;4QUU;4TT2;4TT4;4TT6;4TTE;4TU4;4TU6;4TYL;4TZ2;4TZ8;5A5N;5A5O;5A5P;5A5Q;5A5R;5A81;5A82;5A83;5EPB;5F36;5F3A;5LJ0;6HDN;6HDO;

name:
ATPase family AAA domain-containing protein 2 (EC 3.6.1.3) (AAA nuclear coregulator cancer-associated protein) (ANCCA)

sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; chromatin organization [GO:0006325]; negative regulation of chromatin silencing [GO:0031936]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PL18-1; Sequence=Displayed; Name=2; IsoId=Q6PL18-2; Sequence=VSP_015633, VSP_015634, VSP_015635; Note=No experimental confirmation available. Dubious isoform. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q6UY14
geneSymbol: ADAMTSL4
reactome: R-HSA-5083635;R-HSA-5173214;
name: ADAMTS-like protein 4 (ADAMTSL-4) (Thrombospondin repeat-containing protein 1)
length: 1074
go: ENSG00000143382;
snps: rs41317515 rs56411234
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; interstitial matrix [GO:0005614]; peptidase activity [GO:0008233]; protease binding [GO:0002020]; apoptotic process [GO:0006915]; epithelial cell development [GO:0002064]; extracellular matrix organization [GO:0030198]; positive regulation of apoptotic process [GO:0043065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:12706885}; IsoId=Q6UY14-1; Sequence=Displayed; Note=Gene prediction confirmed by EST data. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:12975309}; IsoId=Q6UY14-2; Sequence=VSP_052183, VSP_052184; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q6UY14-3; Sequence=VSP_055759; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:21989719}. Note=Colocalizes with FMN1 microfibrils in the eye ECM.


uniprotID: Q5T6C5
geneSymbol: ATXN7L2
name: Ataxin-7-like protein 2
length: 722
go: ENSG00000162650;
snps: rs1149172
sequence:


uniprotID: Q5TC04
geneSymbol: ATP1A1-AS1
sequence: MAHFKDDLQTNVEIIPGESAPRKESPRPPAPPSSAAGVGGCSNHSPSVQESPLSPPALAQLGSAQQPSMRTELSFSEKKDTMIIWQITITVWCQR
length: 95
name:
Putative uncharacterized protein ATP1A1-AS1 (ATP1A1 antisense RNA 1) (ATP1A1 antisense gene protein 1) (ATP1A1 opposite strand protein)


uniprotID: Q6ZMM2
geneSymbol: ADAMTSL5
reactome: R-HSA-5083635;R-HSA-5173214;
name: ADAMTS-like protein 5 (ADAMTSL-5) (Thrombospondin type-1 domain-containing protein 6)
length: 481
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; microfibril [GO:0001527]; heparin binding [GO:0008201]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZMM2-1; Sequence=Displayed; Note=Major.; Name=2; IsoId=Q6ZMM2-2; Sequence=VSP_053358; Note=Minor.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:23010571}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:23010571}. Note=Colocalized with fibrillin microfibrils. Predominantly distributed in baso-lateral regions of fibroblast extracellular matrix.


uniprotID: Q6ZMG9
geneSymbol: CERS6
reactome: R-HSA-1660661;
name: Ceramide synthase 6 (CerS6) (LAG1 longevity assurance homolog 6)
length: 384
go: ENSG00000172292;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sphingosine N-acyltransferase activity [GO:0050291]; ceramide biosynthetic process [GO:0046513]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZMG9-1; Sequence=Displayed; Name=2; IsoId=Q6ZMG9-2; Sequence=VSP_045162; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000255|PROSITE-ProRule:PRU00108}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q6UWU4
geneSymbol: C6orf89
name: Bombesin receptor-activated protein C6orf89 (Amfion)
length: 347
go: ENSG00000198663;
sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; midbody [GO:0030496]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; epithelial cell proliferation [GO:0050673]; positive regulation of cell cycle [GO:0045787]; positive regulation of histone deacetylase activity [GO:1901727]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=42/116mp; IsoId=Q6UWU4-1; Sequence=Displayed; Name=2; IsoId=Q6UWU4-2; Sequence=VSP_018598; Name=3; Synonyms=34/64sp; IsoId=Q6UWU4-3; Sequence=VSP_058111; 

location:
SUBCELLULAR LOCATION: Isoform 1: Golgi apparatus membrane {ECO:0000269|PubMed:23460338}; Single-pass type II membrane protein {ECO:0000269|PubMed:23460338}. Midbody {ECO:0000269|PubMed:23460338}.; SUBCELLULAR LOCATION: Isoform 2: Golgi apparatus membrane {ECO:0000269|PubMed:23460338}; Single-pass type II membrane protein {ECO:0000269|PubMed:23460338}. Midbody {ECO:0000269|PubMed:23460338}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:21857995}. Nucleus, nucleolus {ECO:0000269|PubMed:21857995, ECO:0000269|PubMed:23460338}. Note=Retained in nucleolar organiser regions (NORs) in mitotic cells (PubMed:23460338). {ECO:0000269|PubMed:23460338}.


uniprotID: Q9H6K1
geneSymbol: C6orf106
name: Uncharacterized protein C6orf106
length: 298
go: ENSG00000196821;
sequence:

opentargets:
autophagosome [GO:0005776]; phagophore assembly site [GO:0000407]; ubiquitin binding [GO:0043130]; macroautophagy [GO:0016236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6K1-1; Sequence=Displayed; Name=2; IsoId=Q9H6K1-2; Sequence=VSP_017259; 


uniprotID: Q5TEZ5
geneSymbol: C6orf163
name: Uncharacterized protein C6orf163
length: 329
go: ENSG00000203872;
sequence:


uniprotID: P00746
geneSymbol: CFD
reactome: R-HSA-114608;R-HSA-173736;R-HSA-6798695;
name: Complement factor D (EC 3.4.21.46) (Adipsin) (C3 convertase activator) (Properdin factor D)
length: 253
go: ENSG00000197766;
drug: DB03058;
snps: rs267606720 rs267606721 rs2230216
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1BIO;1DFP;1DIC;1DST;1DSU;1FDP;1HFD;2XW9;2XWA;2XWB;4CBN;4CBO;4D9R;5FBE;5FBI;5FCK;5MT0;5MT4;5NAR;5NAT;5NAW;5NB6;5NB7;5NBA;5TCA;5TCC;6FTY;6FTZ;6FUG;6FUH;6FUI;6FUJ;6FUT;

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; platelet alpha granule lumen [GO:0031093]; secretory granule lumen [GO:0034774]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; complement activation [GO:0006956]; complement activation, alternative pathway [GO:0006957]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]; proteolysis [GO:0006508]


uniprotID: O15519
geneSymbol: CFLAR
reactome: R-HSA-3371378;R-HSA-5213460;R-HSA-5218900;R-HSA-69416;R-HSA-75158;
pdb: 2N5R;3H11;3H13;
length: 480
go: ENSG00000003402;
snps: rs13424615
name:
CASP8 and FADD-like apoptosis regulator (Caspase homolog) (CASH) (Caspase-eight-related protein) (Casper) (Caspase-like apoptosis regulatory protein) (CLARP) (Cellular FLICE-like inhibitory protein) (c-FLIP) (FADD-like antiapoptotic molecule 1) (FLAME-1) (Inhibitor of FLICE) (I-FLICE) (MACH-related inducer of toxicity) (MRIT) (Usurpin) [Cleaved into: CASP8 and FADD-like apoptosis regulator subunit p43; CASP8 and FADD-like apoptosis regulator subunit p12]

sequence:

opentargets:
CD95 death-inducing signaling complex [GO:0031265]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; death-inducing signaling complex [GO:0031264]; membrane raft [GO:0045121]; ripoptosome [GO:0097342]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; death receptor binding [GO:0005123]; enzyme activator activity [GO:0008047]; peptidase activator activity [GO:0016504]; protease binding [GO:0002020]; protein heterodimerization activity [GO:0046982]; protein-containing complex binding [GO:0044877]; apoptotic process [GO:0006915]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to estradiol stimulus [GO:0071392]; cellular response to hypoxia [GO:0071456]; cellular response to insulin stimulus [GO:0032869]; cellular response to nitric oxide [GO:0071732]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of cellular response to transforming growth factor beta stimulus [GO:1903845]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of hepatocyte apoptotic process [GO:1903944]; negative regulation of myoblast fusion [GO:1901740]; negative regulation of necroptotic process [GO:0060546]; negative regulation of reactive oxygen species biosynthetic process [GO:1903427]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of extracellular matrix organization [GO:1903055]; positive regulation of glomerular mesangial cell proliferation [GO:0072126]; positive regulation of hepatocyte proliferation [GO:2000347]; 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]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; regulation of necroptotic process [GO:0060544]; regulation of skeletal muscle satellite cell proliferation [GO:0014842]; response to bacterium [GO:0009617]; response to testosterone [GO:0033574]; skeletal muscle atrophy [GO:0014732]; skeletal muscle tissue development [GO:0007519]; skeletal muscle tissue regeneration [GO:0043403]; skeletal myofibril assembly [GO:0014866]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=15;  Name=1; Synonyms=FLIP-L, CLARP1, MRIT alpha-1, CASH alpha, I-FLICE 1, FLAME-1 gamma, Usurpin alpha; IsoId=O15519-1; Sequence=Displayed; Name=2; Synonyms=FLIP-S, CLARP2, MRIT beta-1, CASH beta; IsoId=O15519-2; Sequence=VSP_000828, VSP_000829; Name=3; Synonyms=MRIT alpha-2; IsoId=O15519-3; Sequence=VSP_000824, VSP_000838; Name=4; Synonyms=I-FLICE 2; IsoId=O15519-4; Sequence=VSP_000825; Name=5; Synonyms=I-FLICE 3; IsoId=O15519-5; Sequence=VSP_000840; Name=6; Synonyms=I-FLICE 4; IsoId=O15519-6; Sequence=VSP_000826, VSP_000841; Name=7; Synonyms=I-FLICE 5; IsoId=O15519-7; Sequence=VSP_000824, VSP_000827, VSP_000838; Name=8; Synonyms=FLAME-1 alpha; IsoId=O15519-8; Sequence=VSP_000830; Name=9; Synonyms=FLAME-1 beta; IsoId=O15519-9; Sequence=VSP_000830, VSP_000836, VSP_000837; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=10; Synonyms=FLAME-1 delta; IsoId=O15519-10; Sequence=VSP_000834, VSP_000835; Name=11; Synonyms=Usurpin beta; IsoId=O15519-11; Sequence=VSP_000838; Name=12; Synonyms=Usurpin gamma; IsoId=O15519-12; Sequence=VSP_000832, VSP_000833; Name=13; IsoId=O15519-13; Sequence=VSP_000831; Name=14; IsoId=O15519-14; Sequence=VSP_000839; Name=15; IsoId=O15519-15; Sequence=VSP_000824; 


uniprotID: Q13705
geneSymbol: ACVR2B
reactome: R-HSA-1181150;R-HSA-1433617;R-HSA-1502540;R-HSA-201451;
pdb: 2H62;2QLU;4FAO;5NGV;5NHR;
name: Activin receptor type-2B (EC 2.7.11.30) (Activin receptor type IIB) (ACTR-IIB)
length: 512
go: ENSG00000114739;
snps: rs121434437 rs35882617 rs500611 rs121434438
sequence:

opentargets:
activin receptor complex [GO:0048179]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; receptor complex [GO:0043235]; activin binding [GO:0048185]; ATP binding [GO:0005524]; growth factor binding [GO:0019838]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; SMAD binding [GO:0046332]; transforming growth factor beta receptor activity, type II [GO:0005026]; transforming growth factor beta-activated receptor activity [GO:0005024]; type I transforming growth factor beta receptor binding [GO:0034713]; activation of protein kinase activity [GO:0032147]; activin receptor signaling pathway [GO:0032924]; anterior/posterior pattern specification [GO:0009952]; artery development [GO:0060840]; blood vessel remodeling [GO:0001974]; BMP signaling pathway [GO:0030509]; determination of left/right symmetry [GO:0007368]; embryonic foregut morphogenesis [GO:0048617]; gastrulation with mouth forming second [GO:0001702]; heart development [GO:0007507]; insulin secretion [GO:0030073]; kidney development [GO:0001822]; lung development [GO:0030324]; lymphangiogenesis [GO:0001946]; lymphatic endothelial cell differentiation [GO:0060836]; mesoderm development [GO:0007498]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of transcription by RNA polymerase II [GO:0000122]; odontogenesis of dentin-containing tooth [GO:0042475]; organ growth [GO:0035265]; pancreas development [GO:0031016]; pattern specification process [GO:0007389]; positive regulation of activin receptor signaling pathway [GO:0032927]; positive regulation of bone mineralization [GO:0030501]; positive regulation of osteoblast differentiation [GO:0045669]; post-embryonic development [GO:0009791]; regulation of transcription, DNA-templated [GO:0006355]; response to glucose [GO:0009749]; retina vasculature development in camera-type eye [GO:0061298]; roof of mouth development [GO:0060021]; signal transduction [GO:0007165]; skeletal system morphogenesis [GO:0048705]; transforming growth factor beta receptor signaling pathway [GO:0007179]; transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0007178]; venous blood vessel development [GO:0060841]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=ActR-IIB2; IsoId=Q13705-1; Sequence=Displayed; Name=ActR-IIB1; IsoId=Q13705-2; Sequence=Not described; Note=Produced from the insertion in the transcript of 82 base pairs, leading to frameshift and protein truncation. May be not functional.; 


uniprotID: O75366
geneSymbol: AVIL
pdb: 1UND;
name: Advillin (p92)
length: 819
go: ENSG00000135407;
snps: rs2172521
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; axon [GO:0030424]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; neuron projection [GO:0043005]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; actin filament capping [GO:0051693]; cilium assembly [GO:0060271]; cytoskeleton organization [GO:0007010]; nervous system development [GO:0007399]; positive regulation of neuron projection development [GO:0010976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75366-1; Sequence=Displayed; Name=2; IsoId=O75366-2; Sequence=VSP_036961; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell projection {ECO:0000250}. Cell projection, axon {ECO:0000250}.


uniprotID: O96017
geneSymbol: CHEK2
length: 543
go: ENSG00000183765;
drug: DB05149;
reactome:
R-HSA-5693565;R-HSA-6804756;R-HSA-6804757;R-HSA-6804760;R-HSA-69473;R-HSA-69541;R-HSA-69601;R-HSA-75035;

pdb:
1GXC;2CN5;2CN8;2W0J;2W7X;2WTC;2WTD;2WTI;2WTJ;2XBJ;2XK9;2XM8;2XM9;2YCF;2YCQ;2YCR;2YCS;2YIQ;2YIR;2YIT;3I6U;3I6W;3VA4;4A9R;4A9S;4A9T;4A9U;4BDA;4BDB;4BDC;4BDD;4BDE;4BDF;4BDG;4BDH;4BDI;4BDJ;4BDK;

name:
Serine/threonine-protein kinase Chk2 (EC 2.7.11.1) (CHK2 checkpoint homolog) (Cds1 homolog) (Hucds1) (hCds1) (Checkpoint kinase 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; ubiquitin protein ligase binding [GO:0031625]; cell division [GO:0051301]; cellular protein catabolic process [GO:0044257]; cellular response to bisphenol A [GO:1903926]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to gamma radiation [GO:0071480]; DNA damage checkpoint [GO:0000077]; DNA damage induced protein phosphorylation [GO:0006975]; 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]; double-strand break repair [GO:0006302]; G2/M transition of mitotic cell cycle [GO:0000086]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; mitotic DNA damage checkpoint [GO:0044773]; mitotic spindle assembly [GO:0090307]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of DNA damage checkpoint [GO:2000002]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of anoikis [GO:2000210]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription, DNA-templated [GO:0045893]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; regulation of protein catabolic process [GO:0042176]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription, DNA-templated [GO:0006355]; replicative cell aging [GO:0001302]; replicative senescence [GO:0090399]; response to glycoside [GO:1903416]; signal transduction in response to DNA damage [GO:0042770]; signal transduction involved in intra-S DNA damage checkpoint [GO:0072428]

snps:
rs137853008 rs149991239 rs141568342 rs17883862 rs28909982 rs368570187 rs587781667 rs137853007 rs17879961 rs72552322 rs77130927 rs137853009 rs137853010 rs121908701 rs121908702 rs587780189 rs143611747 rs587780194 rs28909980 rs531398630 rs200928781 rs200649225 rs137853011 rs17882922 rs17880867 rs17881473 rs17886163 rs28909981 rs17883172 rs17882942 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Name=1; IsoId=O96017-1; Sequence=Displayed; Name=2; Synonyms=ins2; IsoId=O96017-2; Sequence=VSP_014564, VSP_014567, VSP_014568; Note=Lacks enzymatic activity.; Name=3; Synonyms=del2-12; IsoId=O96017-3; Sequence=VSP_014559; Name=4; Synonyms=del2-3; IsoId=O96017-4; Sequence=VSP_014558; Note=Lacks enzymatic activity.; Name=5; Synonyms=del4; IsoId=O96017-5; Sequence=VSP_014565, VSP_014566; Name=6; Synonyms=sub3; IsoId=O96017-6; Sequence=VSP_014562, VSP_014563; Name=7; Synonyms=del9-12; IsoId=O96017-7; Sequence=VSP_014572, VSP_014573; Note=Lacks enzymatic activity.; Name=8; Synonyms=del7; IsoId=O96017-8; Sequence=VSP_014569, VSP_014570; Name=9; Synonyms=insx; IsoId=O96017-9; Sequence=VSP_014557; Note=Retains low level of catalytic activity.; Name=10; Synonyms=iso2; IsoId=O96017-10; Sequence=VSP_014560, VSP_014561; Note=Lacks enzymatic activity.; Name=11; Synonyms=iso1; IsoId=O96017-11; Sequence=VSP_014556; Name=12; Synonyms=del9; IsoId=O96017-12; Sequence=VSP_014571; Note=Lacks enzymatic activity.; Name=13; IsoId=O96017-13; Sequence=VSP_045148; 

location:
SUBCELLULAR LOCATION: Isoform 2: Nucleus. Note=Isoform 10 is present throughout the cell.; SUBCELLULAR LOCATION: Isoform 4: Nucleus.; SUBCELLULAR LOCATION: Isoform 7: Nucleus.; SUBCELLULAR LOCATION: Isoform 9: Nucleus.; SUBCELLULAR LOCATION: Isoform 12: Nucleus.; SUBCELLULAR LOCATION: Nucleus, PML body. Nucleus, nucleoplasm. Note=Recruited into PML bodies together with TP53.


uniprotID: P35790
geneSymbol: CHKA
reactome: R-HSA-1483191;R-HSA-1483213;
pdb: 2CKO;2CKP;2CKQ;2I7Q;3F2R;3G15;3ZM9;4BR3;4CG8;4CG9;4CGA;4DA5;5AFV;5EQE;5EQP;5EQY;5FTG;5FUT;5W6O;
name: Choline kinase alpha (CK) (EC 2.7.1.32) (CHETK-alpha) (Ethanolamine kinase) (EK) (EC 2.7.1.82)
length: 457
go: ENSG00000110721;
drug: DB00122;
snps: rs17853641 rs17853642
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; choline binding [GO:0033265]; choline kinase activity [GO:0004103]; cholinesterase activity [GO:0004104]; drug binding [GO:0008144]; ethanolamine kinase activity [GO:0004305]; protein homodimerization activity [GO:0042803]; choline metabolic process [GO:0019695]; ethanolamine metabolic process [GO:0006580]; lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]; phosphatidylcholine biosynthetic process [GO:0006656]; phosphatidylethanolamine biosynthetic process [GO:0006646]; response to 3-methylcholanthrene [GO:1904681]; response to toxic substance [GO:0009636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35790-1; Sequence=Displayed; Name=2; IsoId=P35790-2; Sequence=VSP_009683; 


uniprotID: Q96A70
geneSymbol: AZIN2
reactome: R-HSA-351143;
length: 460
go: ENSG00000142920;
drug: DB00125;DB00114;
snps: rs16835244
name:
Antizyme inhibitor 2 (AzI2) (Arginine decarboxylase) (ADC) (ARGDC) (Ornithine decarboxylase-like protein) (ODC-like protein) (ornithine decarboxylase paralog) (ODC-p)

sequence:

opentargets:
axon [GO:0030424]; cis-Golgi network [GO:0005801]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; granular vesicle [GO:1990005]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; trans-Golgi network [GO:0005802]; transport vesicle [GO:0030133]; arginine decarboxylase activity [GO:0008792]; ornithine decarboxylase activator activity [GO:0042978]; putrescine transmembrane transporter activity [GO:0015489]; agmatine biosynthetic process [GO:0097055]; negative regulation of protein catabolic process [GO:0042177]; positive regulation of catalytic activity [GO:0043085]; positive regulation of polyamine transmembrane transport [GO:1902269]; putrescine biosynthetic process from ornithine [GO:0033387]; putrescine transport [GO:0015847]; spermatogenesis [GO:0007283]; trans-Golgi network membrane organization [GO:0098629]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q96A70-1; Sequence=Displayed; Name=2; IsoId=Q96A70-2; Sequence=VSP_003756; Name=3; IsoId=Q96A70-3; Sequence=VSP_003757, VSP_003758; Name=4; IsoId=Q96A70-4; Sequence=VSP_003755, VSP_003757, VSP_003758; Name=6; IsoId=Q96A70-5; Sequence=VSP_003754, VSP_003757, VSP_003758; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region. Membrane {ECO:0000250}. Cytoplasmic vesicle. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000250}. Golgi apparatus, cis-Golgi network {ECO:0000250}. Golgi apparatus, trans-Golgi network. Cytoplasmic granule. Cell projection, axon. Cell projection, dendrite. Perikaryon. Note=Colocalizes with KDEL receptors in ER-Golgi intermediate compartment (ERGIC). Translocates from the ERGIC structure to the cytoplasm in an antizyme-dependent manner. Localizes with vesicle-associated membrane protein VAMP8 in the vicinity of the plasma membrane within serotonin-containing secretory granules (By similarity). Detected as vesicle-like pattern in neurite outgrowths. Localizes to the vesicular compartments of the secretory pathway, predominantly in the trans-Golgi network (TGN). Localizes with vesicle-associated membrane protein VAMP8 in the vicinity of the plasma membrane within serotonin-containing secretory granules. {ECO:0000250}.


uniprotID: Q9Y259
geneSymbol: CHKB
reactome: R-HSA-1483191;R-HSA-1483213;
pdb: 2IG7;3FEG;3LQ3;
length: 395
go: ENSG00000100288;
drug: DB00122;
name:
Choline/ethanolamine kinase (Choline kinase beta) (CK) (CKB) (EC 2.7.1.32) (Choline kinase-like protein) (Ethanolamine kinase) (EK) (EC 2.7.1.82) (Ethanolamine kinase beta) (EKB) (choline/ethanolamine kinase beta) (CKEKB)

sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; choline kinase activity [GO:0004103]; ethanolamine kinase activity [GO:0004305]; phosphatidylcholine biosynthetic process [GO:0006656]; phosphatidylethanolamine biosynthetic process [GO:0006646]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y259-1; Sequence=Displayed; Name=2; IsoId=Q9Y259-2; Sequence=VSP_034248, VSP_034249; 


uniprotID: Q9Y2T1
geneSymbol: AXIN2
reactome: R-HSA-201681;R-HSA-4411364;R-HSA-4641257;R-HSA-5689880;
name: Axin-2 (Axin-like protein) (Axil) (Axis inhibition protein 2) (Conductin)
length: 843
snps: rs2240308
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
beta-catenin destruction complex [GO:0030877]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; beta-catenin binding [GO:0008013]; enzyme binding [GO:0019899]; I-SMAD binding [GO:0070411]; ubiquitin protein ligase binding [GO:0031625]; beta-catenin-TCF complex assembly [GO:1904837]; bone mineralization [GO:0030282]; cell proliferation [GO:0008283]; cellular protein localization [GO:0034613]; chondrocyte differentiation involved in endochondral bone morphogenesis [GO:0003413]; intramembranous ossification [GO:0001957]; maintenance of DNA repeat elements [GO:0043570]; mRNA stabilization [GO:0048255]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; negative regulation of osteoblast differentiation [GO:0045668]; odontogenesis [GO:0042476]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell death [GO:0010942]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of protein phosphorylation [GO:0001934]; regulation of centromeric sister chromatid cohesion [GO:0070602]; regulation of chondrocyte development [GO:0061181]; regulation of mismatch repair [GO:0032423]; secondary heart field specification [GO:0003139]; somitogenesis [GO:0001756]; Wnt signaling pathway [GO:0016055]


uniprotID: Q9HD36
geneSymbol: BCL2L10
pdb: 4B4S;
name: Bcl-2-like protein 10 (Bcl2-L-10) (Anti-apoptotic protein NrH) (Apoptosis regulator Bcl-B)
length: 194
snps: rs2231292
sequence:
MADPLRERTELLLADYLGYCAREPGTPEPAPSTPEAAVLRSAAARLRQIHRSFFSAYLGYPGNRFELVALMADSVLSDSPGPTWGRVVTLVTFAGTLLERGPLVTARWKKWGFQPRLKEQEGDVARDCQRLVALLSSRLMGQHRAWLQAQGGWDGFCHFFRTPFPLAFWRKQLVQAFLSCLLTTAFIYLWTRLL

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear membrane [GO:0031965]; caspase binding [GO:0089720]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; female gamete generation [GO:0007292]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; negative regulation of apoptotic process [GO:0043066]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11593390}. Nucleus membrane {ECO:0000269|PubMed:11593390}.


uniprotID: O43521
geneSymbol: BCL2L11
reactome: R-HSA-111446;R-HSA-111453;R-HSA-193648;R-HSA-6802952;R-HSA-8862803;R-HSA-8952158;
name: Bcl-2-like protein 11 (Bcl2-L-11) (Bcl2-interacting mediator of cell death)
length: 198
go: ENSG00000153094;
pdb:
1F95;2K7W;2NL9;2V6Q;2VM6;2WH6;2YQ6;2YQ7;3D7V;3FDL;3IO8;3IO9;3KJ0;3KJ1;3KJ2;4A1U;4A1W;4B4S;4D2M;4QVF;4UF3;4YJ4;4ZIE;4ZIF;4ZIH;5AGW;5AGX;5C3G;5VWV;5VWW;5VWX;5VWY;5VWZ;5VX0;5VX2;5VX3;5WOS;

sequence:
MAKQPSDVSSECDREGRQLQPAERPPQLRPGAPTSLQTEPQGNPEGNHGGEGDSCPHGSPQGPLAPPASPGPFATRSPLFIFMRRSSLLSRSSSGYFSFDTDRSPAPMSCDKSTQTPSPPCQAFNHYLSAMASMRQAEPADMRPEIWIAQELRRIGDEFNAYYARRVFLNNYQAAEDHPRMVILRLLRYIVRLVWRMH

opentargets:
Bcl-2 family protein complex [GO:0097136]; BIM-BCL-2 complex [GO:0097141]; BIM-BCL-xl complex [GO:0097140]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; extrinsic component of membrane [GO:0019898]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; microtubule binding [GO:0008017]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; apoptotic process involved in embryonic digit morphogenesis [GO:1902263]; B cell apoptotic process [GO:0001783]; B cell homeostasis [GO:0001782]; brain development [GO:0007420]; cell-matrix adhesion [GO:0007160]; cellular process regulating host cell cycle in response to virus [GO:0060154]; cellular response to glucocorticoid stimulus [GO:0071385]; developmental pigmentation [GO:0048066]; ear development [GO:0043583]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; in utero embryonic development [GO:0001701]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; kidney development [GO:0001822]; male gonad development [GO:0008584]; mammary gland development [GO:0030879]; myeloid cell homeostasis [GO:0002262]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of apoptotic process [GO:0043065]; positive regulation of apoptotic process by virus [GO:0060139]; positive regulation of autophagy in response to ER overload [GO:0034263]; positive regulation of cell cycle [GO:0045787]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902237]; positive regulation of fibroblast apoptotic process [GO:2000271]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of IRE1-mediated unfolded protein response [GO:1903896]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of protein homooligomerization [GO:0032464]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; post-embryonic animal organ morphogenesis [GO:0048563]; protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:0001844]; regulation of apoptotic process [GO:0042981]; regulation of developmental pigmentation [GO:0048070]; regulation of organ growth [GO:0046620]; response to endoplasmic reticulum stress [GO:0034976]; spermatogenesis [GO:0007283]; spleen development [GO:0048536]; T cell homeostasis [GO:0043029]; thymocyte apoptotic process [GO:0070242]; thymus development [GO:0048538]; tube formation [GO:0035148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=20;  Name=BimEL; Synonyms=Bim(EL); IsoId=O43521-1; Sequence=Displayed; Name=BimL; Synonyms=Bim(L); IsoId=O43521-2; Sequence=VSP_000535; Name=BimS; Synonyms=BCL2-like 11 transcript variant 9, Bim(S); IsoId=O43521-3; Sequence=VSP_035608; Name=Bim-alpha1; Synonyms=BimABCD, Bim-ABCD; IsoId=O43521-4; Sequence=VSP_035620; Name=Bim-alpha2; Synonyms=BimACD, Bim-ACD; IsoId=O43521-5; Sequence=VSP_000535, VSP_035620; Name=Bim-alpha3; Synonyms=BCL2-like 11 transcript variant 10, BimAD, Bim-AD; IsoId=O43521-6; Sequence=VSP_035608, VSP_035620; Name=Bim-alpha4; IsoId=O43521-7; Sequence=VSP_035608, VSP_035618; Name=Bim-alpha5; IsoId=O43521-8; Sequence=VSP_035619; Name=Bim-alpha6; IsoId=O43521-9; Sequence=VSP_035608, VSP_035619; Name=Bim-beta1; IsoId=O43521-10; Sequence=VSP_035615, VSP_035616; Name=Bim-beta2; IsoId=O43521-11; Sequence=VSP_035614, VSP_035616; Name=Bim-beta3; IsoId=O43521-12; Sequence=VSP_035609; Name=Bim-beta4; IsoId=O43521-13; Sequence=VSP_035610, VSP_035611; Name=Bim-beta5; IsoId=O43521-14; Sequence=VSP_035613, VSP_035617; Name=Bim-beta6; IsoId=O43521-15; Sequence=VSP_000535, VSP_035614, VSP_035616; Name=Bim-beta7; IsoId=O43521-16; Sequence=VSP_000535, VSP_035613, VSP_035617; Name=Bim-gamma; IsoId=O43521-17; Sequence=VSP_000535, VSP_035612; Name=BimABC; Synonyms=Bim-ABC; IsoId=O43521-18; Sequence=VSP_000535, VSP_042866; Name=BimAC; Synonyms=Bim-AC; IsoId=O43521-19; Sequence=VSP_042866; Name=BimA; Synonyms=Bim-A; IsoId=O43521-20; Sequence=VSP_042865; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Associated with intracytoplasmic membranes. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform BimEL: Mitochondrion. Note=Translocates from microtubules to mitochondria on loss of cell adherence.; SUBCELLULAR LOCATION: Isoform BimL: Mitochondrion.; SUBCELLULAR LOCATION: Isoform BimS: Mitochondrion.; SUBCELLULAR LOCATION: Isoform Bim-alpha1: Mitochondrion.


uniprotID: Q5TBC7
geneSymbol: BCL2L15
name: Bcl-2-like protein 15 (Bcl2-L-15)
length: 163
go: ENSG00000188761;
snps: rs1217381
sequence:
MKSSQTFEEQTECIVNTLLMDFLSPTLQVASRNLCCVDEVDSGEPCSFDVAIIAGRLRMLGDQFNGELEASAKNVIAETIKGQTGAILQDTVESLSKTWCAQDSSLAYERAFLAVSVKLLEYMAHIAPEVVGQVAIPMTGMINGNQAIREFIQGQGGWENLES

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; apoptotic process [GO:0006915]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TBC7-1; Sequence=Displayed; Name=2; IsoId=Q5TBC7-2; Sequence=VSP_047627, VSP_047628; Note=Pro-apoptotic when overexpressed.; 


uniprotID: Q16548
geneSymbol: BCL2A1
pdb: 2VM6;3I1H;3MQP;4ZEQ;5UUK;5UUL;5UUP;5WHH;5WHI;
length: 175
go: ENSG00000140379;
snps: rs1138357 rs1138358 rs3826007 rs34080999
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Bcl-2-related protein A1 (Bcl-2-like protein 5) (Bcl2-L-5) (Hemopoietic-specific early response protein) (Protein BFL-1) (Protein GRS)

sequence:
MTDCEFGYIYRLAQDYLQCVLQIPQPGSGPSKTSRVLQNVAFSVQKEVEKNLKSCLDNVNVVSVDTARTLFNQVMEKEFEDGIINWGRIVTIFAFEGILIKKLLRQQIAPDVDTYKEISYFVAEFIMNNTGEWIRQNGGWENGFVKKFEPKSGWMTFLEVTGKICEMLSLLKQYC

opentargets:
mitochondrial outer membrane [GO:0005741]; BH domain binding [GO:0051400]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; aging [GO:0007568]; cerebral cortex development [GO:0021987]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; negative regulation of apoptotic process [GO:0043066]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16548-1; Sequence=Displayed; Name=2; IsoId=Q16548-2; Sequence=VSP_043106; 


uniprotID: P04920
geneSymbol: SLC4A2
reactome: R-HSA-425381;
length: 1241
go: ENSG00000164889;
snps: rs2303929 rs2229551 rs35016052 rs34918764
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Anion exchange protein 2 (AE 2) (Anion exchanger 2) (Non-erythroid band 3-like protein) (BND3L) (Solute carrier family 4 member 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; anion transmembrane transporter activity [GO:0008509]; anion:anion antiporter activity [GO:0015301]; enzyme binding [GO:0019899]; inorganic anion exchanger activity [GO:0005452]; anion transport [GO:0006820]; bicarbonate transport [GO:0015701]; digestive tract development [GO:0048565]; regulation of intracellular pH [GO:0051453]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=A; IsoId=P04920-1; Sequence=Displayed; Name=B1; IsoId=P04920-2; Sequence=VSP_000456; Name=3; IsoId=P04920-3; Sequence=VSP_045953; Note=No experimental confirmation available.; 


uniprotID: Q9HD42
geneSymbol: CHMP1A
pdb: 2JQ9;2YMB;4A5X;
length: 196
go: ENSG00000131165;
name:
Charged multivesicular body protein 1a (Chromatin-modifying protein 1a) (CHMP1a) (Vacuolar protein sorting-associated protein 46-1) (Vps46-1) (hVps46-1)

sequence:
MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVECARVYAENAIRKKNEGVNWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLTTPQEQVDSLIMQIAEENGLEVLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN

opentargets:
condensed nuclear chromosome [GO:0000794]; early endosome [GO:0005769]; endomembrane system [GO:0012505]; ESCRT III complex [GO:0000815]; extracellular exosome [GO:0070062]; microtubule organizing center [GO:0005815]; multivesicular body [GO:0005771]; nuclear matrix [GO:0016363]; identical protein binding [GO:0042802]; metallopeptidase activity [GO:0008237]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; zinc ion binding [GO:0008270]; cell division [GO:0051301]; endosome transport via multivesicular body sorting pathway [GO:0032509]; ESCRT III complex disassembly [GO:1904903]; gene silencing [GO:0016458]; late endosome to vacuole transport [GO:0045324]; midbody abscission [GO:0061952]; mitotic chromosome condensation [GO:0007076]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; negative regulation of cell cycle [GO:0045786]; negative regulation of transcription, DNA-templated [GO:0045892]; nucleus organization [GO:0006997]; protein transport [GO:0015031]; regulation of centrosome duplication [GO:0010824]; regulation of mitotic spindle assembly [GO:1901673]; septum digestion after cytokinesis [GO:0000920]; vesicle-mediated transport [GO:0016192]; viral budding via host ESCRT complex [GO:0039702]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:11559747}; IsoId=Q9HD42-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q9HD42-2; Sequence=VSP_051716; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane; Peripheral membrane protein. Nucleus matrix. Note=The cytoplasmic form is partially membrane-associated and localizes to early endosomes. The nuclear form remains associated with the chromosome scaffold during mitosis. On overexpression, it localizes to nuclear bodies characterized by nuclease-resistant condensed chromatin.


uniprotID: Q7LBR1
geneSymbol: CHMP1B
pdb: 3EAB;3JC1;4TXQ;4TXR;6E8G;
length: 199
go: ENSG00000255112;
name:
Charged multivesicular body protein 1b (CHMP1.5) (Chromatin-modifying protein 1b) (CHMP1b) (Vacuolar protein sorting-associated protein 46-2) (Vps46-2) (hVps46-2)

sequence:
MSNMEKHLFNLKFAAKELSRSAKKCDKEEKAEKAKIKKAIQKGNMEVARIHAENAIRQKNQAVNFLRMSARVDAVAARVQTAVTMGKVTKSMAGVVKSMDATLKTMNLEKISALMDKFEHQFETLDVQTQQMEDTMSSTTTLTTPQNQVDMLLQEMADEAGLDLNMELPQGQTGSVGTSVASAEQDELSQRLARLRDQV

opentargets:
cytosol [GO:0005829]; endosome membrane [GO:0010008]; ESCRT III complex [GO:0000815]; extracellular exosome [GO:0070062]; late endosome membrane [GO:0031902]; membrane coat [GO:0030117]; midbody [GO:0030496]; multivesicular body [GO:0005771]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; cell division [GO:0051301]; endosome transport via multivesicular body sorting pathway [GO:0032509]; ESCRT III complex disassembly [GO:1904903]; establishment of protein localization [GO:0045184]; late endosome to vacuole transport [GO:0045324]; midbody abscission [GO:0061952]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; nucleus organization [GO:0006997]; protein transport [GO:0015031]; regulation of centrosome duplication [GO:0010824]; regulation of mitotic spindle assembly [GO:1901673]; septum digestion after cytokinesis [GO:0000920]; viral budding via host ESCRT complex [GO:0039702]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Endosome. Late endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Localizes to the midbody of dividing cells, colocalizing with CEP55 and CHMP5. Localized at the periphery of the Fleming body.


