# annotation

uniprotID: Q8IUF1
geneSymbol: CBWD2
name: COBW domain-containing protein 2 (Cobalamin synthase W domain-containing protein 2)
length: 395
go: ENSG00000136682;
opentargets: ATP binding [GO:0005524]
sequence:


uniprotID: Q5JTY5
geneSymbol: CBWD3
name: COBW domain-containing protein 3 (Cobalamin synthase W domain-containing protein 3)
length: 395
go: ENSG00000147996;ENSG00000196873;
opentargets: ATP binding [GO:0005524]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JTY5-1; Sequence=Displayed; Name=2; IsoId=Q5JTY5-2; Sequence=VSP_055975; Note=No experimental confirmation available.; 


uniprotID: Q5RIA9
geneSymbol: CBWD5
name: COBW domain-containing protein 5 (Cobalamin synthase W domain-containing protein 5)
length: 395
go: ENSG00000147996;
opentargets: ATP binding [GO:0005524]
snps: rs7874545 rs1127334
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5RIA9-1; Sequence=Displayed; Name=2; IsoId=Q5RIA9-2; Sequence=VSP_033808; Note=No experimental confirmation available.; Name=3; IsoId=Q5RIA9-3; Sequence=VSP_040475, VSP_040476; Note=No experimental confirmation available.; 


uniprotID: Q4V339
geneSymbol: CBWD6
name: COBW domain-containing protein 6 (Cobalamin synthase W domain-containing protein 6)
length: 395
opentargets: ATP binding [GO:0005524]
sequence:


uniprotID: Q14781
geneSymbol: CBX2
pdb: 2D9U;3H91;5EPK;
name: Chromobox protein homolog 2
length: 532
go: ENSG00000173894;
snps: rs121908255 rs121908256
reactome:
R-HSA-2559580;R-HSA-3108214;R-HSA-3899300;R-HSA-4551638;R-HSA-4570464;R-HSA-4655427;R-HSA-8939243;R-HSA-8943724;

sequence:

opentargets:
euchromatin [GO:0000791]; heterochromatin [GO:0000792]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; methylated histone binding [GO:0035064]; cell differentiation [GO:0030154]; chromatin organization [GO:0006325]; development of primary sexual characteristics [GO:0045137]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14781-1; Sequence=Displayed; Name=2; IsoId=Q14781-2; Sequence=VSP_015816, VSP_015817; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18927235, ECO:0000269|PubMed:21282530}. Chromosome {ECO:0000269|PubMed:18927235}. Note=Localized in distinct foci on chromatin and in chromocenters. Localizes to the inactive X chromosome. Seems to be recruited to H3K27me3, H3K9ac and H3K3me2 sites on chromatin. {ECO:0000269|PubMed:18927235}.


uniprotID: P45973
geneSymbol: CBX5
reactome: R-HSA-4551638;R-HSA-8953750;R-HSA-983231;
pdb: 3FDT;3I3C;
name: Chromobox protein homolog 5 (Antigen p25) (Heterochromatin protein 1 homolog alpha) (HP1 alpha)
length: 191
go: ENSG00000094916;
sequence:
MGKKTKRTADSSSSEDEEEYVVEKVLDRRVVKGQVEYLLKWKGFSEEHNTWEPEKNLDCPELISEFMKKYKKMKEGENNKPREKSESNKRKSNFSNSADDIKSKKKREQSNDIARGFERGLEPEKIIGATDSCGDLMFLMKWKDTDEADLVLAKEANVKCPQIVIAFYEERLTWHAYPEDAENKEKETAKS

opentargets:
chromocenter [GO:0010369]; histone deacetylase complex [GO:0000118]; histone methyltransferase complex [GO:0035097]; kinetochore [GO:0000776]; nuclear chromosome, telomeric region [GO:0000784]; nuclear envelope [GO:0005635]; nuclear heterochromatin [GO:0005720]; nuclear pericentric heterochromatin [GO:0031618]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; protein-containing complex [GO:0032991]; ribonucleoprotein complex [GO:1990904]; site of DNA damage [GO:0090734]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; histone deacetylase binding [GO:0042826]; identical protein binding [GO:0042802]; methylated histone binding [GO:0035064]; protein binding, bridging [GO:0030674]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; repressing transcription factor binding [GO:0070491]; ribonucleoprotein complex binding [GO:0043021]; blood coagulation [GO:0007596]; cellular response to DNA damage stimulus [GO:0006974]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10460410, ECO:0000269|PubMed:19617346}. Chromosome {ECO:0000269|PubMed:10460410}. Chromosome, centromere {ECO:0000269|PubMed:10460410, ECO:0000269|PubMed:21346195}. Note=Colocalizes with HNRNPU in the nucleus (PubMed:19617346). Component of centromeric and pericentromeric heterochromatin. Associates with chromosomes during mitosis. Associates specifically with chromatin during metaphase and anaphase. {ECO:0000269|PubMed:19617346}.


uniprotID: O95931
geneSymbol: CBX7
pdb: 2K1B;2L12;2L1B;3GS2;4MN3;5EPJ;
name: Chromobox protein homolog 7
length: 251
go: ENSG00000100307;
sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102]; chromatin organization [GO:0006325]; negative regulation of transcription by RNA polymerase II [GO:0000122]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14647293, ECO:0000269|PubMed:21060834, ECO:0000269|PubMed:21282530}.


uniprotID: A6NI87
geneSymbol: CBY3
name: Protein chibby homolog 3
length: 242
sequence:


uniprotID: Q9HBI5
geneSymbol: C3orf14
name: Uncharacterized protein C3orf14
length: 128
go: ENSG00000114405;
sequence:
MTSLFAQEIRLSKRHEEIVSQRLMLLQQMENKLGDQHTEKASQLQTVETAFKRNLSLLKDIEAAEKSLQTRIHPLPRPEVVSLETRYWASVEEYIPKWEQFLLGRAPYPFAVENQNEAENTIQNEAQR


uniprotID: Q8ND61
geneSymbol: C3orf20
name: Uncharacterized protein C3orf20
length: 904
go: ENSG00000131379;
opentargets: cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]
snps: rs17040154 rs9821143 rs17040196 rs34230332 rs17852774 rs17040196 rs6765537 rs6790129 rs34045813
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8ND61-1; Sequence=Displayed; Name=2; IsoId=Q8ND61-2; Sequence=VSP_017722; 


uniprotID: Q6P1S2
geneSymbol: C3orf33
name: Protein C3orf33 (Protein AC3-33)
length: 294
go: ENSG00000174928;
snps: rs9853408 rs358733
sequence:

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; regulation of DNA-binding transcription factor activity [GO:0051090]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P1S2-1; Sequence=Displayed; Name=2; IsoId=Q6P1S2-2; Sequence=VSP_046233; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:20680465}.


uniprotID: Q96BT1
geneSymbol: C3orf49
name: Putative uncharacterized protein C3orf49
length: 292
go: ENSG00000163632;
sequence:


uniprotID: A1A4F0
geneSymbol: PQLC2L
name: Putative uncharacterized protein PQLC2L (PQ-loop repeat-containing protein 2-like)
length: 135
go: ENSG00000174899;
snps: rs7616293
sequence:
MKVVGNYRVNTANSSTDTSGEHLTCLRSQLFVAYRNGRVDEAVSLGFLDCWIGGDLTNFKGCYLTNQLPIQIFTAIFDMNTDVIILSQFMYYRLKNQKKKMIFQPQLFKDSITREKVRLSLWGVLCPVYIPYSFR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A1A4F0-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=A1A4F0-2; Sequence=VSP_036612; Note=No experimental confirmation available.; Name=3; IsoId=A1A4F0-3; Sequence=VSP_045571; Note=No experimental confirmation available.; Name=4; IsoId=A1A4F0-4; Sequence=VSP_046204; Note=No experimental confirmation available.; 


uniprotID: H3BNL1
geneSymbol: C3orf84
name: Uncharacterized protein C3orf84
length: 204
go: ENSG00000236980;
sequence:


uniprotID: P0DN24
geneSymbol: C3orf86
name: Uncharacterized protein C3orf86
length: 101
sequence:
MSRGQFGQGQEPLDMFFWVNEISGEITYPPQKADAPAVSPESPQKKPPFQPRSVQEAPCSPQGPPAQRPALAPPSKPSLKDSGSRNPCPSAPTWARPKPEE


uniprotID: Q8IYK2
geneSymbol: CCDC105
name: Coiled-coil domain-containing protein 105
length: 499
go: ENSG00000160994;
opentargets: extracellular exosome [GO:0070062]
snps: rs35352238 rs34375549 rs17855585 rs8111625 rs8112667
sequence:


uniprotID: Q9BWC9
geneSymbol: CCDC106
name: Coiled-coil domain-containing protein 106
length: 280
go: ENSG00000173581;
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20159018}. Note=Colocalizes with p53/TP53.
sequence:


uniprotID: Q8WV48
geneSymbol: CCDC107
name: Coiled-coil domain-containing protein 107
length: 283
go: ENSG00000159884;
opentargets: integral component of membrane [GO:0016021]
snps: rs2275420 rs1339374 rs10441685
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8WV48-1; Sequence=Displayed; Name=2; IsoId=Q8WV48-2; Sequence=VSP_024130, VSP_024133; Name=3; IsoId=Q8WV48-3; Sequence=VSP_024131, VSP_024132; Note=No experimental confirmation available.; Name=4; IsoId=Q8WV48-4; Sequence=VSP_024128, VSP_024129; Note=Gene prediction based on EST data. No experimental confirmation available.; Name=5; IsoId=Q8WV48-5; Sequence=VSP_042165; 


uniprotID: Q8TBZ0
geneSymbol: CCDC110
length: 833
go: ENSG00000168491;
opentargets: nucleus [GO:0005634]
snps: rs7699687 rs7698680 rs9999097 rs11132306 rs59319722 rs35596415 rs6827370 rs9683564 rs34800518
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15447989}.
name:
Coiled-coil domain-containing protein 110 (Cancer/testis antigen 52) (CT52) (Cancer/testis antigen KM-HN-1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBZ0-1; Sequence=Displayed; Name=2; IsoId=Q8TBZ0-2; Sequence=VSP_020365; Note=No experimental confirmation available.; 


uniprotID: Q8NEF3
geneSymbol: CCDC112
name: Coiled-coil domain-containing protein 112 (Mutated in bladder cancer protein 1)
length: 446
go: ENSG00000164221;
snps: rs34457718 rs34056787 rs17856922 rs17852930
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEF3-1; Sequence=Displayed; Name=2; IsoId=Q8NEF3-2; Sequence=VSP_031624; Note=No experimental confirmation available.; 


uniprotID: Q96M63
geneSymbol: CCDC114
name: Coiled-coil domain-containing protein 114
length: 670
go: ENSG00000105479;
snps: rs35361179 rs35461177
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:23261303}.
sequence:

opentargets:
axoneme [GO:0005930]; cilium [GO:0005929]; outer dynein arm [GO:0036157]; cilium movement [GO:0003341]; outer dynein arm assembly [GO:0036158]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96M63-1; Sequence=Displayed; Name=2; IsoId=Q96M63-4; Sequence=VSP_036212; Note=No experimental confirmation available.; Name=3; IsoId=Q96M63-5; Sequence=VSP_036213, VSP_036214; Note=No experimental confirmation available.; 


uniprotID: Q8IWD4
geneSymbol: CCDC117
name: Coiled-coil domain-containing protein 117
length: 279
go: ENSG00000159873;
snps: rs13057011 rs9613680
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IWD4-1; Sequence=Displayed; Name=2; IsoId=Q8IWD4-2; Sequence=VSP_021185; Note=No experimental confirmation available.; Name=3; IsoId=Q8IWD4-3; Sequence=VSP_054912; Note=No experimental confirmation available.; Name=4; IsoId=Q8IWD4-4; Sequence=VSP_054913; Note=No experimental confirmation available.; 


uniprotID: Q96HB5
geneSymbol: CCDC120
name: Coiled-coil domain-containing protein 120
length: 630
go: ENSG00000147144;
sequence:

opentargets:
centriolar subdistal appendage [GO:0120103]; centriole [GO:0005814]; endosome [GO:0005768]; growth cone [GO:0030426]; microtubule anchoring at centrosome [GO:0034454]; multicellular organism development [GO:0007275]; protein localization [GO:0008104]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96HB5-1; Sequence=Displayed; Name=2; IsoId=Q96HB5-2; Sequence=VSP_042859; Note=No experimental confirmation available.; Name=3; IsoId=Q96HB5-3; Sequence=VSP_047104; Note=No experimental confirmation available.; Name=4; IsoId=Q96HB5-4; Sequence=VSP_054527, VSP_047104; Note=No experimental confirmation available.; Name=5; IsoId=Q96HB5-5; Sequence=VSP_042859, VSP_047104; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28422092}. Cytoplasm {ECO:0000269|PubMed:25326380}. Cell projection {ECO:0000269|PubMed:25326380}. Cell projection, growth cone {ECO:0000269|PubMed:25326380}. Endosome {ECO:0000269|PubMed:25326380}. Note=Localizes to the subdistal appendages of mother centrioles and proximal ends of both centrioles in interphase cells (PubMed:28422092). Recruited to subdistal appendages by ODF2 (PubMed:28422092). In differentiating neuroblastoma cells, colocalizes with CYTH2 in both neurite shaft and growth cone areas (PubMed:25326380). Partially colocalizes with endosomes along neurites in differentiating neuroblastoma cells (PubMed:25326380). {ECO:0000269|PubMed:25326380, ECO:0000269|PubMed:28422092}.


uniprotID: Q86Z20
geneSymbol: CCDC125
name: Coiled-coil domain-containing protein 125 (Protein kenae)
length: 511
go: ENSG00000183323;
snps: rs10471774
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19787194}.
sequence:

opentargets:
cytoplasm [GO:0005737]; activation of GTPase activity [GO:0090630]; negative regulation of cell motility [GO:2000146]; negative regulation of Rho protein signal transduction [GO:0035024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Kenae-1; IsoId=Q86Z20-1; Sequence=Displayed; Name=2; Synonyms=Kenae-2; IsoId=Q86Z20-2; Sequence=VSP_025781; Note=No experimental confirmation available.; 


uniprotID: Q9H6E4
geneSymbol: CCDC134
name: Coiled-coil domain-containing protein 134
length: 229
go: ENSG00000100147;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; membrane [GO:0016020]; nucleus [GO:0005634]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22644376}. Cytoplasm {ECO:0000269|PubMed:22644376}. Secreted {ECO:0000269|PubMed:18087676}. Endoplasmic reticulum {ECO:0000269|PubMed:18087676}. Note=Accumulates in the nucleus in response to UV irradiation (PubMed:22644376). {ECO:0000269|PubMed:22644376}.


uniprotID: Q8IYE0
geneSymbol: CCDC146
name: Coiled-coil domain-containing protein 146
length: 955
go: ENSG00000135205;
opentargets: centriole [GO:0005814]
snps: rs17853516 rs1109968 rs58545343
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYE0-1; Sequence=Displayed; Name=2; IsoId=Q8IYE0-2; Sequence=VSP_030926, VSP_030927; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:25074808}. Note=Localized to only one centriole identified as the mother centriole by co-staining with CEP164. {ECO:0000269|PubMed:25074808}.


uniprotID: Q8NFR7
geneSymbol: CCDC148
name: Coiled-coil domain-containing protein 148
length: 591
go: ENSG00000153237;
snps: rs4664950 rs12620556 rs7559772
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NFR7-1; Sequence=Displayed; Name=2; IsoId=Q8NFR7-2; Sequence=VSP_032532, VSP_032533, VSP_032534, VSP_032535; Name=3; IsoId=Q8NFR7-3; Sequence=VSP_032536; Name=4; IsoId=Q8NFR7-4; Sequence=VSP_045395, VSP_045396, VSP_045397; Note=No experimental confirmation available.; 


uniprotID: Q8NCX0
geneSymbol: CCDC150
name: Coiled-coil domain-containing protein 150
length: 1101
go: ENSG00000144395;
snps: rs34133636
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NCX0-1; Sequence=Displayed; Name=2; IsoId=Q8NCX0-2; Sequence=VSP_032873, VSP_032874, VSP_032877, VSP_032878; Name=3; IsoId=Q8NCX0-3; Sequence=VSP_032872, VSP_032877, VSP_032878; Name=4; IsoId=Q8NCX0-4; Sequence=VSP_032872, VSP_032875, VSP_032876; 


uniprotID: Q4G0S7
geneSymbol: CCDC152
name: Coiled-coil domain-containing protein 152
length: 254
go: ENSG00000198865;
snps: rs6879044
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4G0S7-1; Sequence=Displayed; Name=2; IsoId=Q4G0S7-2; Sequence=VSP_056904; Note=No experimental confirmation available.; 


uniprotID: A6NI56
geneSymbol: CCDC154
name: Coiled-coil domain-containing protein 154
length: 674
go: ENSG00000197599;
opentargets: early endosome [GO:0005769]
location: SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:22895184}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NI56-1; Sequence=Displayed; Name=2; IsoId=A6NI56-2; Sequence=VSP_047467, VSP_047468; 


uniprotID: A0A0D9SF12
geneSymbol: CCDC163
length: 145
go: ENSG00000280670;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
name:
Transmembrane protein CCDC163 (Coiled-coil domain-containing protein 163) (coiled-coil domain containing 163 pseudogene)

sequence:
MNTSLSWFEQLDVLLNATDGNVVRNKQWLYPLGVSTELIGLCICFFCSSGCIFLGSPPQNSTAVTPAVLWEESEIMQKELKLLQYQLSQHQELLLKQLAEGRQAQVGSWKIPRGAPFLTWSPASFSSMPRVLSKRTYSFGAPKCS


uniprotID: Q8NDH2
geneSymbol: CCDC168
name: Coiled-coil domain-containing protein 168
length: 2452
sequence:

snps:
rs11843669 rs17592459 rs9518825 rs9300758 rs9300757 rs17507841 rs7982465 rs7983175 rs17592438 rs7335290 rs6491707 rs9300756 rs17507827 rs9514051 rs9554897 


uniprotID: P0C7W6
geneSymbol: CCDC172
name: Coiled-coil domain-containing protein 172
length: 258
go: ENSG00000182645;
opentargets: cytoplasm [GO:0005737]; sperm midpiece [GO:0097225]
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q810N9}. Cell projection, cilium {ECO:0000250|UniProtKB:Q6AXT4}. Note=In spermatozoa, localized in the middle piece, predominantly concentrated at the mitochondrial sheath of the flagella and to a lesser extent with outer dense fibers (ODF) (By similarity). Colocalized with TEKT2 at the perinuclear region (By similarity). {ECO:0000250|UniProtKB:Q6AXT4, ECO:0000250|UniProtKB:Q810N9}.


uniprotID: Q0VFZ6
geneSymbol: CCDC173
name: Coiled-coil domain-containing protein 173
length: 552
go: ENSG00000154479;
sequence:


uniprotID: Q9UFE4
geneSymbol: CCDC39
name: Coiled-coil domain-containing protein 39
length: 941
snps: rs140505857
sequence:

opentargets:
axoneme [GO:0005930]; cilium [GO:0005929]; axonemal dynein complex assembly [GO:0070286]; cilium movement [GO:0003341]; cilium-dependent cell motility [GO:0060285]; determination of digestive tract left/right asymmetry [GO:0071907]; determination of liver left/right asymmetry [GO:0071910]; determination of pancreatic left/right asymmetry [GO:0035469]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]; flagellated sperm motility [GO:0030317]; heart looping [GO:0001947]; inner dynein arm assembly [GO:0036159]; lung development [GO:0030324]; motile cilium assembly [GO:0044458]; regulation of cilium beat frequency [GO:0003356]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UFE4-1; Sequence=Displayed; Name=2; IsoId=Q9UFE4-2; Sequence=VSP_037014, VSP_037015, VSP_037016; 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: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:21131972, ECO:0000269|PubMed:21131974, ECO:0000269|PubMed:27120127}. Note=CCDC40 is required for localization to axonemes. {ECO:0000269|PubMed:21131974}.


uniprotID: Q96ER9
geneSymbol: CCDC51
name: Coiled-coil domain-containing protein 51
length: 411
go: ENSG00000164051;
opentargets: integral component of membrane [GO:0016021]
snps: rs7618609
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96ER9-1; Sequence=Displayed; Name=2; IsoId=Q96ER9-2; Sequence=VSP_025800; Note=No experimental confirmation available.; 


uniprotID: Q2TAC2
geneSymbol: CCDC57
name: Coiled-coil domain-containing protein 57
length: 916
go: ENSG00000176155;
snps: rs34543170 rs7406116 rs7209474 rs4625783 rs7406163 rs7406162 rs7213172 rs11077969
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2TAC2-1; Sequence=Displayed; Name=2; IsoId=Q2TAC2-2; Sequence=VSP_025802, VSP_025803; 


uniprotID: Q9Y6R9
geneSymbol: CCDC61
name: Coiled-coil domain-containing protein 61
length: 512
go: ENSG00000104983;
opentargets: centrosome [GO:0005813]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6R9-1; Sequence=Displayed; Name=2; IsoId=Q9Y6R9-2; Sequence=VSP_053741; 


uniprotID: Q6P9F0
geneSymbol: CCDC62
name: Coiled-coil domain-containing protein 62 (Protein TSP-NY) (Protein aaa)
length: 684
go: ENSG00000130783;
snps: rs58131754 rs17855031
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; estrogen receptor binding [GO:0030331]; nuclear receptor transcription coactivator activity [GO:0030374]; blastocyst hatching [GO:0001835]; cellular response to estradiol stimulus [GO:0071392]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P9F0-1; Sequence=Displayed; Name=2; IsoId=Q6P9F0-2; Sequence=VSP_019329; Name=3; IsoId=Q6P9F0-3; Sequence=VSP_019327, VSP_019328; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19126643}. Nucleus {ECO:0000269|PubMed:19126643}. Note=Mainly nuclear.


uniprotID: Q8NA47
geneSymbol: CCDC63
name: Coiled-coil domain-containing protein 63
length: 563
go: ENSG00000173093;
snps: rs12371434
sequence:

opentargets:
axoneme [GO:0005930]; cilium movement [GO:0003341]; outer dynein arm assembly [GO:0036158]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NA47-1; Sequence=Displayed; Name=2; IsoId=Q8NA47-2; Sequence=VSP_054895; Note=No experimental confirmation available.; 


uniprotID: A2RUB6
geneSymbol: CCDC66
name: Coiled-coil domain-containing protein 66
length: 948
go: ENSG00000180376;
snps: rs1491170 rs7637449 rs4681904 rs4681904 rs758090911
sequence:

opentargets:
centriolar satellite [GO:0034451]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; microtubule [GO:0005874]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; microtubule binding [GO:0008017]; protein homodimerization activity [GO:0042803]; cilium assembly [GO:0060271]; detection of light stimulus involved in visual perception [GO:0050908]; microtubule bundle formation [GO:0001578]; regulation of protein localization to cilium [GO:1903564]; retina homeostasis [GO:0001895]; retinal rod cell development [GO:0046548]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A2RUB6-1; Sequence=Displayed; Name=2; IsoId=A2RUB6-2; Sequence=VSP_031586, VSP_031587; Note=No experimental confirmation available.; Name=3; IsoId=A2RUB6-3; Sequence=VSP_036545; Name=4; IsoId=A2RUB6-4; Sequence=VSP_036545, VSP_036546; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:28235840}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:28235840}. Cell projection, cilium {ECO:0000269|PubMed:28235840}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:28235840}. Photoreceptor inner segment {ECO:0000269|PubMed:19777273}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:19777273}. Note=Restricted to the centrosomes and the spindle microtubules during mitosis (PubMed:28235840). Enriched in the inner segment of the photoreceptor (PubMed:19777273). {ECO:0000269|PubMed:19777273, ECO:0000269|PubMed:28235840}.


uniprotID: Q9H2F9
geneSymbol: CCDC68
length: 335
go: ENSG00000166510;
snps: rs34751112
name:
Coiled-coil domain-containing protein 68 (Cutaneous T-cell lymphoma-associated antigen se57-1) (CTCL-associated antigen se57-1)

sequence:

opentargets:
centriolar subdistal appendage [GO:0120103]; centriole [GO:0005814]; intracellular [GO:0005622]; intracellular signal transduction [GO:0035556]; microtubule anchoring at centrosome [GO:0034454]; protein localization [GO:0008104]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28422092}. Note=Localizes to the subdistal appendages of centrioles (PubMed:28422092). {ECO:0000269|PubMed:28422092}.


uniprotID: Q6NSX1
geneSymbol: CCDC70
name: Coiled-coil domain-containing protein 70
length: 233
go: ENSG00000123171;
opentargets: extracellular region [GO:0005576]; plasma membrane [GO:0005886]
snps: rs17076052 rs1054515
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q6ZRK6
geneSymbol: CCDC73
name: Coiled-coil domain-containing protein 73 (Sarcoma antigen NY-SAR-79)
length: 1079
go: ENSG00000186714;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZRK6-1; Sequence=Displayed; Name=2; IsoId=Q6ZRK6-2; Sequence=VSP_024861, VSP_024862, VSP_024863; Note=No experimental confirmation available.; 


uniprotID: Q6ZN84
geneSymbol: CCDC81
name: Coiled-coil domain-containing protein 81
length: 652
go: ENSG00000149201;
opentargets: centrosome [GO:0005813]; cytoplasm [GO:0005737]
snps: rs3741005
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZN84-1; Sequence=Displayed; Name=2; IsoId=Q6ZN84-2; Sequence=VSP_025806; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZN84-3; Sequence=VSP_025805, VSP_025807; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25074808}.


uniprotID: Q8N4S0
geneSymbol: CCDC82
name: Coiled-coil domain-containing protein 82
length: 544
go: ENSG00000149231;
snps: rs3748261 rs17851661 rs10831519
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4S0-1; Sequence=Displayed; Name=2; IsoId=Q8N4S0-2; Sequence=VSP_035403, VSP_035404; 


uniprotID: Q8IWF9
geneSymbol: CCDC83
name: Coiled-coil domain-containing protein 83
length: 413
go: ENSG00000150676;
snps: rs12362209
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IWF9-1; Sequence=Displayed; Name=2; IsoId=Q8IWF9-2; Sequence=VSP_025810; Note=No experimental confirmation available.; Name=3; IsoId=Q8IWF9-3; Sequence=VSP_025808, VSP_025809, VSP_025811; Note=No experimental confirmation available.; 


uniprotID: Q9NVE4
geneSymbol: CCDC87
name: Coiled-coil domain-containing protein 87
length: 849
go: ENSG00000182791;
snps: rs1110707 rs17853294
sequence:

opentargets:
cell differentiation [GO:0030154]; positive regulation of acrosome reaction [GO:2000344]; positive regulation of fertilization [GO:1905516]; single fertilization [GO:0007338]; spermatogenesis [GO:0007283]


uniprotID: Q9Y3X0
geneSymbol: CCDC9
name: Coiled-coil domain-containing protein 9
length: 531
opentargets: RNA binding [GO:0003723]
snps: rs2032811 rs35119724 rs888836
sequence:


uniprotID: Q8TC90
geneSymbol: CCER1
name: Coiled-coil domain-containing glutamate-rich protein 1
length: 406
go: ENSG00000197651;
snps: rs11105882 rs17855513
sequence:


uniprotID: I3L3R5
geneSymbol: CCER2
name: Coiled-coil domain-containing glutamate-rich protein 2
length: 266
go: ENSG00000262484;
opentargets: extracellular region [GO:0005576]
snps: rs76973734 rs530595113 rs375222589 rs371603378 rs569628536 rs369436329 rs565410180
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q06432
geneSymbol: CACNG1
reactome: R-HSA-5576892;R-HSA-5576893;
length: 222
go: ENSG00000108878;
drug: DB00343;DB00898;DB04842;DB00308;DB00528;DB00653;DB01054;DB00421;
snps: rs1799938
name:
Voltage-dependent calcium channel gamma-1 subunit (Dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; L-type voltage-gated calcium channel complex [GO:1990454]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; T-tubule [GO:0030315]; calcium channel regulator activity [GO:0005246]; voltage-gated calcium channel activity [GO:0005245]; regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1902514]; sarcoplasmic reticulum calcium ion transport [GO:0070296]

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P19518}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19518}.


uniprotID: P53701
geneSymbol: HCCS
name: Cytochrome c-type heme lyase (CCHL) (EC 4.4.1.17) (Holocytochrome c-type synthase)
length: 268
go: ENSG00000004961;
snps: rs121917889
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; holocytochrome-c synthase activity [GO:0004408]; metal ion binding [GO:0046872]; animal organ morphogenesis [GO:0009887]; cytochrome c-heme linkage [GO:0018063]; oxidation-reduction process [GO:0055114]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: P32238
geneSymbol: CCKAR
reactome: R-HSA-375276;R-HSA-416476;
pdb: 1D6G;1HZN;1PB2;
name: Cholecystokinin receptor type A (CCK-A receptor) (CCK-AR) (Cholecystokinin-1 receptor) (CCK1-R)
length: 428
go: ENSG00000163394;
drug: DB00403;DB04856;DB04867;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cholecystokinin receptor activity [GO:0004951]; peptide hormone binding [GO:0017046]; axonogenesis [GO:0007409]; cellular response to hormone stimulus [GO:0032870]; cholecystokinin signaling pathway [GO:0038188]; feeding behavior [GO:0007631]; forebrain development [GO:0030900]; G protein-coupled receptor signaling pathway [GO:0007186]; neuron migration [GO:0001764]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; regulation of hormone secretion [GO:0046883]


uniprotID: Q99616
geneSymbol: CCL13
reactome: R-HSA-380108;R-HSA-418594;
pdb: 2RA4;
sequence: MKVSAVLLCLLLMTAAFNPQGLAQPDALNVPSTCCFTFSSKKISLQRLKSYVITTSRCPQKAVIFRTKLGKEICADPKEKWVQNYMKHLGRKAHTLKT
length: 98
go: ENSG00000181374;
snps: rs3136677 rs34566308
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 13 (CK-beta-10) (Monocyte chemoattractant protein 4) (Monocyte chemotactic protein 4) (MCP-4) (NCC-1) (Small-inducible cytokine A13) [Cleaved into: C-C motif chemokine 13, long chain; C-C motif chemokine 13, medium chain; C-C motif chemokine 13, short chain]

opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; chemokine activity [GO:0008009]; signaling receptor binding [GO:0005102]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; cellular calcium ion homeostasis [GO:0006874]; 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]; chemotaxis [GO:0006935]; cytoskeleton organization [GO:0007010]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; regulation of cell shape [GO:0008360]; signal transduction [GO:0007165]


uniprotID: Q16627
geneSymbol: CCL14
pdb: 2Q8R;2Q8T;
sequence: MKISVAAIPFFLLITIALGTKTESSSRGPYHPSECCFTYTTYKIPRQRIMDYYETNSQCSKPGIVFITKRGHSVCTNPSDKWVQDYIKDMKEN
length: 93
go: ENSG00000276409;
snps: rs16971802
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 14 (Chemokine CC-1/CC-3) (HCC-1/HCC-3) (HCC-1(1-74)) (NCC-2) (Small-inducible cytokine A14) [Cleaved into: HCC-1(3-74); HCC-1(4-74); HCC-1(9-74)]

opentargets:
cell [GO:0005623]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; chemokine activity [GO:0008009]; cellular calcium ion homeostasis [GO:0006874]; 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]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of inflammatory response [GO:0050729]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=HCC-1; IsoId=Q16627-1; Sequence=Displayed; Name=HCC-3; IsoId=Q16627-2; Sequence=VSP_001060; Note=No experimental confirmation available.; 


uniprotID: O00175
geneSymbol: CCL24
pdb: 1EIG;1EIH;
length: 119
go: ENSG00000106178;
snps: rs2302006 rs11465293 rs11465312 rs11465313
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 24 (CK-beta-6) (Eosinophil chemotactic protein 2) (Eotaxin-2) (Myeloid progenitor inhibitory factor 2) (MPIF-2) (Small-inducible cytokine A24)

sequence:
MAGLMTIVTSLLFLGVCAHHIIPTGSVVIPSPCCMFFVSKRIPENRVVSYQLSSRSTCLKAGVIFTTKKGQQFCGDPKQEWVQRYMKNLDAKQKKASPRARAVAVKGPVQRYPGNQTTC

opentargets:
extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR3 chemokine receptor binding [GO:0031728]; chemokine activity [GO:0008009]; receptor ligand activity [GO:0048018]; cell-cell signaling [GO:0007267]; 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]; chemotaxis [GO:0006935]; cytoskeleton organization [GO:0007010]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell migration [GO:0030335]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of eosinophil migration [GO:2000418]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of inflammatory response [GO:0050729]; regulation of cell shape [GO:0008360]; signal transduction [GO:0007165]


uniprotID: Q9NRJ3
geneSymbol: CCL28
reactome: R-HSA-380108;R-HSA-418594;
pdb: 6CWS;
length: 127
go: ENSG00000151882;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 28 (Mucosae-associated epithelial chemokine) (MEC) (Protein CCK1) (Small-inducible cytokine A28)

sequence:
MQQRGLAIVALAVCAALHASEAILPIASSCCTEVSHHISRRLLERVNMCRIQRADGDCDLAAVILHVKRRRICVSPHNHTVKQWMKVQAAKKNGKGNVCHRKKHHGKRNSNRAHQGKHETYGHKTPY

opentargets:
cell [GO:0005623]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; chemokine activity [GO:0008009]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; cytolysis in other organism [GO:0051715]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; killing of cells of other organism [GO:0031640]; negative regulation of leukocyte tethering or rolling [GO:1903237]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; response to nutrient [GO:0007584]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRJ3-1; Sequence=Displayed; Name=2; Synonyms=CCL28chi; IsoId=Q9NRJ3-2; Sequence=VSP_047735; 


uniprotID: P13500
geneSymbol: CCL2
reactome: R-HSA-380994;R-HSA-6783783;R-HSA-6785807;
pdb: 1DOK;1DOL;1DOM;1DON;1MCA;1ML0;2BDN;2NZ1;3IFD;4DN4;4R8I;4ZK9;
sequence: MKVSAALLCLLLIAATFIPQGLAQPDAINAPVTCCYNFTNRKISVQRLASYRRITSSKCPKEAVIFKTIVAKEICADPKQKWVQDSMDHLDKQTQTPKT
length: 99
go: ENSG00000108691;
drug: DB01406;DB01055;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:23955712}.
name:
C-C motif chemokine 2 (HC11) (Monocyte chemoattractant protein 1) (Monocyte chemotactic and activating factor) (MCAF) (Monocyte chemotactic protein 1) (MCP-1) (Monocyte secretory protein JE) (Small-inducible cytokine A2)

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; CCR chemokine receptor binding [GO:0048020]; CCR2 chemokine receptor binding [GO:0031727]; chemokine activity [GO:0008009]; protein kinase activity [GO:0004672]; signaling receptor binding [GO:0005102]; angiogenesis [GO:0001525]; animal organ morphogenesis [GO:0009887]; astrocyte cell migration [GO:0043615]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; cellular homeostasis [GO:0019725]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to organic cyclic compound [GO:0071407]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; cytoskeleton organization [GO:0007010]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; helper T cell extravasation [GO:0035684]; humoral immune response [GO:0006959]; inflammatory response [GO:0006954]; JAK-STAT cascade [GO:0007259]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; lymphocyte chemotaxis [GO:0048247]; macrophage chemotaxis [GO:0048246]; MAPK cascade [GO:0000165]; monocyte chemotaxis [GO:0002548]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of glial cell apoptotic process [GO:0034351]; negative regulation of natural killer cell chemotaxis [GO:2000502]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of vascular endothelial cell proliferation [GO:1905563]; neutrophil chemotaxis [GO:0030593]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of apoptotic cell clearance [GO:2000427]; positive regulation of calcium ion import [GO:0090280]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; positive regulation of T cell activation [GO:0050870]; protein kinase B signaling [GO:0043491]; protein phosphorylation [GO:0006468]; regulation of cell shape [GO:0008360]; response to bacterium [GO:0009617]; signal transduction [GO:0007165]; viral genome replication [GO:0019079]


uniprotID: Q9NUG4
geneSymbol: CCM2L
name: Cerebral cavernous malformations 2 protein-like (CCM2-like)
length: 571
go: ENSG00000101331;
sequence:

opentargets:
cardiac atrium morphogenesis [GO:0003209]; cardiac muscle tissue growth [GO:0055017]; negative regulation of homotypic cell-cell adhesion [GO:0034111]; negative regulation of protein binding [GO:0032091]; positive regulation of fibroblast growth factor production [GO:0090271]; ventricular trabecula myocardium morphogenesis [GO:0003222]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NUG4-1; Sequence=Displayed; Name=2; IsoId=Q9NUG4-2; Sequence=VSP_007633; Note=No experimental confirmation available.; Name=3; IsoId=Q9NUG4-3; Sequence=VSP_007634, VSP_007635; Note=No experimental confirmation available.; 


uniprotID: P20648
geneSymbol: ATP4A
reactome: R-HSA-936837;
length: 1035
go: ENSG00000105675;
drug: DB00736;DB00448;DB00338;DB00213;DB01129;DB05351;
snps: rs2733743
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Potassium-transporting ATPase alpha chain 1 (EC 3.6.3.10) (Gastric H(+)/K(+) ATPase subunit alpha) (Proton pump)

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; potassium:proton exchanging ATPase activity [GO:0008900]; sodium:potassium-exchanging ATPase activity [GO:0005391]; ATP hydrolysis coupled proton transport [GO:0015991]; cellular potassium ion homeostasis [GO:0030007]; cellular sodium ion homeostasis [GO:0006883]; potassium ion import [GO:0010107]; sodium ion export across plasma membrane [GO:0036376]


uniprotID: Q00532
geneSymbol: CDKL1
pdb: 4AGU;
length: 358
snps: rs11570814 rs7161563 rs9323183 rs11570886
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9000130}. Nucleus {ECO:0000269|PubMed:9000130}.
name:
Cyclin-dependent kinase-like 1 (EC 2.7.11.22) (Protein kinase p42 KKIALRE) (Serine/threonine-protein kinase KKIALRE)

sequence:

opentargets:
ciliary transition zone [GO:0035869]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; heart development [GO:0007507]; protein phosphorylation [GO:0006468]; regulation of cilium assembly [GO:1902017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q00532-1; Sequence=Displayed; Name=2; IsoId=Q00532-2; Sequence=VSP_041239, VSP_041240, VSP_041241, VSP_041242; Name=3; IsoId=Q00532-3; Sequence=VSP_059391, VSP_059392; 


uniprotID: P55273
geneSymbol: CDKN2D
reactome: R-HSA-2559580;R-HSA-2559582;R-HSA-2559585;R-HSA-69231;
pdb: 1BD8;1BI8;
name: Cyclin-dependent kinase 4 inhibitor D (p19-INK4d)
length: 166
go: ENSG00000129355;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9482106}. Cytoplasm {ECO:0000269|PubMed:9482106}.
sequence:
MLLEEVRAGDRLSGAAARGDVQEVRRLLHRELVHPDALNRFGKTALQVMMFGSTAIALELLKQGASPNVQDTSGTSPVHDAARTGFLDTLKVLVEHGADVNVPDGTGALPIHLAVQEGHTAVVSFLAAESDLHRRDARGLTPLELALQRGAQDLVDILQGHMVAPL

opentargets:
cyclin D2-CDK4 complex [GO:0097129]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; protein kinase binding [GO:0019901]; autophagic cell death [GO:0048102]; cell cycle arrest [GO:0007050]; DNA synthesis involved in DNA repair [GO:0000731]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of cell cycle G1/S phase transition [GO:1902807]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; negative regulation of phosphorylation [GO:0042326]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; response to retinoic acid [GO:0032526]; response to UV [GO:0009411]; response to vitamin D [GO:0033280]; sensory perception of sound [GO:0007605]


uniprotID: O95674
geneSymbol: CDS2
reactome: R-HSA-1483148;
length: 445
go: ENSG00000101290;
name:
Phosphatidate cytidylyltransferase 2 (EC 2.7.7.41) (CDP-DAG synthase 2) (CDP-DG synthase 2) (CDP-diacylglycerol synthase 2) (CDS 2) (CDP-diglyceride pyrophosphorylase 2) (CDP-diglyceride synthase 2) (CTP:phosphatidate cytidylyltransferase 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; phosphatidate cytidylyltransferase activity [GO:0004605]; CDP-diacylglycerol biosynthetic process [GO:0016024]; phosphatidylglycerol biosynthetic process [GO:0006655]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95674-1; Sequence=Displayed; Name=2; IsoId=O95674-2; Sequence=VSP_015477, VSP_015480, VSP_015482; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.


uniprotID: Q8TCT0
geneSymbol: CERK
reactome: R-HSA-1660662;
name: Ceramide kinase (hCERK) (EC 2.7.1.138) (Acylsphingosine kinase) (Lipid kinase 4) (LK4)
length: 537
go: ENSG00000100422;
snps: rs16995615 rs9306515 rs13057352
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ceramide kinase activity [GO:0001729]; dihydroceramide kinase activity [GO:0102773]; magnesium ion binding [GO:0000287]; NAD+ kinase activity [GO:0003951]; ceramide metabolic process [GO:0006672]; glycosphingolipid metabolic process [GO:0006687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TCT0-1; Sequence=Displayed; Name=2; IsoId=Q8TCT0-2; Sequence=VSP_056944; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19168031}. Membrane {ECO:0000269|PubMed:19168031}; Peripheral membrane protein {ECO:0000269|PubMed:19168031}.


uniprotID: P11597
geneSymbol: CETP
reactome: R-HSA-8964041;R-HSA-8964058;
pdb: 2OBD;4EWS;4F2A;
name: Cholesteryl ester transfer protein (Lipid transfer protein I)
length: 493
go: ENSG00000087237;
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; vesicle [GO:0031982]; cholesterol binding [GO:0015485]; cholesterol transporter activity [GO:0017127]; lipid binding [GO:0008289]; lipid transporter activity [GO:0005319]; phosphatidylcholine binding [GO:0031210]; phospholipid transporter activity [GO:0005548]; triglyceride binding [GO:0017129]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; high-density lipoprotein particle remodeling [GO:0034375]; lipid homeostasis [GO:0055088]; lipid transport [GO:0006869]; low-density lipoprotein particle remodeling [GO:0034374]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; phosphatidylcholine metabolic process [GO:0046470]; phospholipid homeostasis [GO:0055091]; phospholipid transport [GO:0015914]; regulation of cholesterol efflux [GO:0010874]; reverse cholesterol transport [GO:0043691]; triglyceride homeostasis [GO:0070328]; triglyceride metabolic process [GO:0006641]; triglyceride transport [GO:0034197]; very-low-density lipoprotein particle remodeling [GO:0034372]

snps:
rs34065661 rs34716057 rs142459781 rs5881 rs34855278 rs5880 rs5882 rs2228667 rs2303790 rs1800777 rs5887 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11597-1; Sequence=Displayed; Name=2; IsoId=P11597-2; Sequence=VSP_023645; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:24293641}. Note=Secreted in plasma. {ECO:0000250|UniProtKB:P47896}.


uniprotID: O95873
geneSymbol: C6orf47
name: Uncharacterized protein C6orf47 (Protein G4)
length: 294
go: ENSG00000204439;
opentargets: cytosol [GO:0005829]
snps: rs3130617 rs2242655
sequence:


uniprotID: Q9GZU0
geneSymbol: C6orf62
length: 229
go: ENSG00000112308;
opentargets: intracellular [GO:0005622]
snps: rs34238213 rs35050510
name:
Uncharacterized protein C6orf62 (HBV X-transactivated gene 12 protein) (HBV XAg-transactivated protein 12)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZU0-1; Sequence=Displayed; Name=2; IsoId=Q9GZU0-2; Sequence=VSP_015616, VSP_015617; Note=No experimental confirmation available.; 


uniprotID: Q8IYR0
geneSymbol: CFAP206
name: Cilia- and flagella-associated protein 206
length: 622
go: ENSG00000213204;ENSG00000272514;
snps: rs13219364 rs16879281
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q23H79}.
sequence:

opentargets:
motile cilium [GO:0031514]; radial spoke [GO:0001534]; axoneme assembly [GO:0035082]; cilium movement [GO:0003341]


uniprotID: O14965
geneSymbol: AURKA
length: 403
drug: DB08065;DB05169;DB05198;DB05220;DB08066;DB07801;DB07545;DB02482;
snps: rs6069717 rs2273535 rs34572020 rs1047972 rs2230743 rs33923703
reactome:
R-HSA-174178;R-HSA-2565942;R-HSA-4615885;R-HSA-6804114;R-HSA-6804756;R-HSA-8854050;R-HSA-8854518;R-HSA-8854521;

pdb:
1MQ4;1MUO;1OL5;1OL6;1OL7;2BMC;2C6D;2C6E;2DWB;2J4Z;2J50;2NP8;2W1C;2W1D;2W1E;2W1F;2W1G;2WQE;2WTV;2WTW;2X6D;2X6E;2X81;2XNE;2XNG;2XRU;3COH;3E5A;3EFW;3FDN;3H0Y;3H0Z;3H10;3HA6;3K5U;3LAU;3M11;3MYG;3NRM;3O50;3O51;3P9J;3QBN;3R21;3R22;3UNZ;3UO4;3UO5;3UO6;3UOD;3UOH;3UOJ;3UOK;3UOL;3UP2;3UP7;3VAP;3W10;3W16;3W18;3W2C;4B0G;4BN1;4BYI;4BYJ;4C3P;4C3R;4CEG;4DEA;4DEB;4DED;4DEE;4DHF;4J8M;4J8N;4JAI;4JAJ;4JBO;4JBP;4JBQ;4O0S;4O0U;4O0W;4PRJ;4UYN;4UZD;4UZH;4ZS0;4ZTQ;4ZTR;4ZTS;5AAD;5AAE;5AAF;5AAG;5DN3;5DNR;5DOS;5DPV;5DR2;5DR6;5DR9;5DRD;5DT0;5DT3;5DT4;5EW9;5G15;5G1X;5L8J;5L8K;5L8L;5LXM;5OBJ;5OBR;5ODT;5ONE;5ORL;5ORN;5ORO;5ORP;5ORR;5ORS;5ORT;5ORV;5ORW;5ORX;5ORY;5ORZ;5OS0;5OS1;5OS2;5OS3;5OS4;5OS5;5OS6;5OSD;5OSE;5OSF;6CPE;6CPF;6CPG;

name:
Aurora kinase A (EC 2.7.11.1) (Aurora 2) (Aurora/IPL1-related kinase 1) (ARK-1) (Aurora-related kinase 1) (hARK1) (Breast tumor-amplified kinase) (Serine/threonine-protein kinase 15) (Serine/threonine-protein kinase 6) (Serine/threonine-protein kinase aurora-A)

sequence:

opentargets:
axon hillock [GO:0043203]; centriole [GO:0005814]; centrosome [GO:0005813]; chromosome passenger complex [GO:0032133]; cilium [GO:0005929]; condensed nuclear chromosome, centromeric region [GO:0000780]; cytosol [GO:0005829]; germinal vesicle [GO:0042585]; meiotic spindle [GO:0072687]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; mitotic spindle pole [GO:0097431]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; pronucleus [GO:0045120]; spindle [GO:0005819]; spindle microtubule [GO:0005876]; spindle midzone [GO:0051233]; spindle pole centrosome [GO:0031616]; ATP binding [GO:0005524]; histone serine kinase activity [GO:0035174]; protein heterodimerization activity [GO:0046982]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; ubiquitin protein ligase binding [GO:0031625]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; anterior/posterior axis specification [GO:0009948]; cell division [GO:0051301]; centrosome localization [GO:0051642]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; G2/M transition of mitotic cell cycle [GO:0000086]; liver regeneration [GO:0097421]; mitotic cell cycle [GO:0000278]; mitotic centrosome separation [GO:0007100]; mitotic spindle organization [GO:0007052]; negative regulation of apoptotic process [GO:0043066]; negative regulation of G2/M transition of mitotic cell cycle [GO:0010972]; negative regulation of protein binding [GO:0032091]; neuron projection extension [GO:1990138]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of oocyte maturation [GO:1900195]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; protein autophosphorylation [GO:0046777]; protein localization to centrosome [GO:0071539]; protein phosphorylation [GO:0006468]; regulation of centrosome cycle [GO:0046605]; regulation of cytokinesis [GO:0032465]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of protein stability [GO:0031647]; regulation of signal transduction by p53 class mediator [GO:1901796]; response to wounding [GO:0009611]; spindle assembly involved in female meiosis I [GO:0007057]; spindle organization [GO:0007051]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:12576638, ECO:0000269|PubMed:13678582, ECO:0000269|PubMed:17229885, ECO:0000269|PubMed:17726514, ECO:0000269|PubMed:19357306, ECO:0000269|PubMed:21225229, ECO:0000269|PubMed:22014574, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:9153231}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:12576638, ECO:0000269|PubMed:13678582, ECO:0000269|PubMed:17726514, ECO:0000269|PubMed:19351716, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:9153231, ECO:0000269|PubMed:9606188}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:P97477}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:P97477}. Note=Detected at the neurite hillock in developing neurons (By similarity). Localizes at the centrosome in mitotic cells from early prophase until telophase, but also localizes to the spindle pole MTs from prophase to anaphase (PubMed:9606188, PubMed:17229885, PubMed:21225229). Colocalized with SIRT2 at centrosome (PubMed:22014574). Moves to the midbody during both telophase and cytokinesis (PubMed:17726514). Associates with both the pericentriolar material (PCM) and centrioles (PubMed:22014574). {ECO:0000250|UniProtKB:P97477, ECO:0000269|PubMed:17229885, ECO:0000269|PubMed:17726514, ECO:0000269|PubMed:21225229, ECO:0000269|PubMed:22014574, ECO:0000269|PubMed:9606188}.


uniprotID: Q99700
geneSymbol: ATXN2
pdb: 3KTR;
name: Ataxin-2 (Spinocerebellar ataxia type 2 protein) (Trinucleotide repeat-containing gene 13 protein)
length: 1313
go: ENSG00000204842;
snps: rs695871 rs7969300
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; polysome [GO:0005844]; ribonucleoprotein complex [GO:1990904]; trans-Golgi network [GO:0005802]; epidermal growth factor receptor binding [GO:0005154]; protein C-terminus binding [GO:0008022]; RNA binding [GO:0003723]; cytoplasmic mRNA processing body assembly [GO:0033962]; negative regulation of receptor internalization [GO:0002091]; regulation of cytoplasmic mRNA processing body assembly [GO:0010603]; regulation of translation [GO:0006417]; RNA metabolic process [GO:0016070]; RNA transport [GO:0050658]; stress granule assembly [GO:0034063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q99700-1; Sequence=Displayed; Name=2; IsoId=Q99700-2; Sequence=VSP_011575, VSP_011577; Note=No experimental confirmation available.; Name=3; IsoId=Q99700-3; Sequence=VSP_011574, VSP_011576, VSP_011578, VSP_011579, VSP_011580, VSP_011581; Note=No experimental confirmation available.; Name=4; IsoId=Q99700-4; Sequence=VSP_011582; Name=5; IsoId=Q99700-5; Sequence=VSP_057285, VSP_057286, VSP_057287; Note=No experimental confirmation available.; 


uniprotID: Q9Y679
geneSymbol: AUP1
pdb: 2EKF;
name: Ancient ubiquitous protein 1
length: 410
go: ENSG00000115307;
sequence:

opentargets:
extracellular exosome [GO:0070062]; Hrd1p ubiquitin ligase ERAD-L complex [GO:0000839]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; ubiquitin binding [GO:0043130]; ubiquitin-protein transferase activator activity [GO:0097027]; retrograde protein transport, ER to cytosol [GO:0030970]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y679-2; Sequence=Displayed; Name=2; IsoId=Q9Y679-3; Sequence=VSP_059683, VSP_059684; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12042322, ECO:0000269|PubMed:18711132}; Single-pass type III membrane protein {ECO:0000269|PubMed:12042322, ECO:0000269|PubMed:18711132}; Cytoplasmic side {ECO:0000269|PubMed:12042322, ECO:0000269|PubMed:18711132}.


uniprotID: Q96GD4
geneSymbol: AURKB
pdb: 4AF3;
length: 344
go: ENSG00000178999;
drug: DB05169;DB04703;
snps: rs55878091 rs3027254 rs55871613 rs1059476
reactome:
R-HSA-141444;R-HSA-174178;R-HSA-2467813;R-HSA-2500257;R-HSA-4615885;R-HSA-5663220;R-HSA-6804756;R-HSA-68877;

name:
Aurora kinase B (EC 2.7.11.1) (Aurora 1) (Aurora- and IPL1-like midbody-associated protein 1) (AIM-1) (Aurora/IPL1-related kinase 2) (ARK-2) (Aurora-related kinase 2) (STK-1) (Serine/threonine-protein kinase 12) (Serine/threonine-protein kinase 5) (Serine/threonine-protein kinase aurora-B)

sequence:

opentargets:
chromocenter [GO:0010369]; chromosome passenger complex [GO:0032133]; condensed chromosome, centromeric region [GO:0000779]; condensed nuclear chromosome, centromeric region [GO:0000780]; cytosol [GO:0005829]; kinetochore [GO:0000776]; midbody [GO:0030496]; mitotic spindle midzone [GO:1990023]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; spindle microtubule [GO:0005876]; spindle midzone [GO:0051233]; spindle pole centrosome [GO:0031616]; ATP binding [GO:0005524]; histone serine kinase activity [GO:0035174]; kinase binding [GO:0019900]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; abscission [GO:0009838]; aging [GO:0007568]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; attachment of spindle microtubules to kinetochore [GO:0008608]; cell proliferation [GO:0008283]; cellular response to UV [GO:0034644]; cleavage furrow formation [GO:0036089]; histone H3-S28 phosphorylation [GO:0043988]; histone modification [GO:0016570]; mitotic cytokinesis checkpoint [GO:0044878]; mitotic spindle assembly checkpoint [GO:0007094]; mitotic spindle midzone assembly [GO:0051256]; mitotic spindle organization [GO:0007052]; negative regulation of B cell apoptotic process [GO:0002903]; negative regulation of cytokinesis [GO:0032466]; negative regulation of protein binding [GO:0032091]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cytokinesis [GO:0032467]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein autophosphorylation [GO:0046777]; protein localization to kinetochore [GO:0034501]; protein phosphorylation [GO:0006468]; regulation of chromosome segregation [GO:0051983]; regulation of cytokinesis [GO:0032465]; regulation of signal transduction by p53 class mediator [GO:1901796]; spindle organization [GO:0007051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96GD4-1; Sequence=Displayed; Name=2; Synonyms=aurkb-sv1; IsoId=Q96GD4-2; Sequence=VSP_044385; Name=3; Synonyms=aurkb-sv2; IsoId=Q96GD4-3; Sequence=VSP_044384, VSP_044386, VSP_044387; Note=Not expressed in normal liver, high expression in metastatic liver.; Name=4; IsoId=Q96GD4-4; Sequence=VSP_047103; Name=5; IsoId=Q96GD4-5; Sequence=VSP_044384; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Chromosome, centromere. Cytoplasm, cytoskeleton, spindle. Midbody. 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. Colocalized with gamma tubulin in the midbody. Proper localization of the active, Thr-232-phosphorylated form during metaphase may be dependent upon interaction with SPDYC. Colocalized with SIRT2 during cytokinesis with the midbody. Localization (and probably targeting of the CPC) to the inner centromere occurs predominantly in regions with overlapping mitosis-specific histone phosphorylations H3pT3 and H2ApT12. {ECO:0000269|PubMed:20929775}.


uniprotID: Q8WXX7
geneSymbol: AUTS2
reactome: R-HSA-8939243;
name: Autism susceptibility gene 2 protein
length: 1259
go: ENSG00000158321;
snps: rs2293507
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; growth cone [GO:0030426]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; actin cytoskeleton reorganization [GO:0031532]; axon extension [GO:0048675]; dendrite extension [GO:0097484]; innate vocalization behavior [GO:0098582]; neuron migration [GO:0001764]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of histone H4-K16 acetylation [GO:2000620]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of Rac protein signal transduction [GO:0035022]; positive regulation of transcription by RNA polymerase II [GO:0045944]; righting reflex [GO:0060013]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000305}; IsoId=Q8WXX7-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q8WXX7-2; Sequence=VSP_003792; Note=No experimental confirmation available.; Name=3 {ECO:0000305}; IsoId=Q8WXX7-3; Sequence=VSP_043556, VSP_043557; Note=No experimental confirmation available.; Name=5 {ECO:0000305}; IsoId=Q8WXX7-5; Sequence=VSP_057063, VSP_003792; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25519132}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:A0A087WPF7}. Cell projection, growth cone {ECO:0000250|UniProtKB:A0A087WPF7}. Note=Detected both in cytoplasm and nucleus. Colocalizes with RAC1 at actin-rich growth cones. Detected on the promoter region of actively transcribed genes. {ECO:0000250|UniProtKB:A0A087WPF7}.


uniprotID: Q8NBF6
geneSymbol: AVL9
name: Late secretory pathway protein AVL9 homolog
length: 648
go: ENSG00000105778;
snps: rs2290213
sequence:

opentargets:
integral component of membrane [GO:0016021]; recycling endosome [GO:0055037]; cell migration [GO:0016477]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBF6-1; Sequence=Displayed; Name=2; IsoId=Q8NBF6-2; Sequence=VSP_019943; 

location:
SUBCELLULAR LOCATION: Recycling endosome {ECO:0000269|PubMed:22595670}. Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q3ZCQ2
geneSymbol: ANXA2R
name: Annexin-2 receptor (Annexin II receptor) (AXIIR)
length: 193
go: ENSG00000177721;
opentargets: signaling receptor activity [GO:0038023]
snps: rs1054428 rs10971
sequence:
MEQHFLGCVKRAWDSAEVAPEPQPPPIVSSEDRGPWPLPLYPVLGEYSLDSCDLGLLSSPCWRLPGVYWQNGLSPGVQSTLEPSTAKPTEFSWPGTQKQQEAPVEEVGQAEEPDRLRLQQLPWSSPLHPWDRQQDTEVCDSGCLLERRHPPALQPWRHLPGFSDCLEWILRVGFAAFSVLWACCSRICGAKQP


uniprotID: Q5T1B0
geneSymbol: AXDND1
name: Axonemal dynein light chain domain-containing protein 1
length: 1012
go: ENSG00000162779;
snps: rs11577579 rs17369441 rs6425573 rs6658180
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T1B0-1; Sequence=Displayed; Name=2; IsoId=Q5T1B0-2; Sequence=VSP_024704, VSP_024705, VSP_024706; Name=3; IsoId=Q5T1B0-3; Sequence=VSP_024703, VSP_024707, VSP_024708; 


uniprotID: O14757
geneSymbol: CHEK1
length: 476
go: ENSG00000149554;
drug: DB07037;DB07228;DB07038;DB08779;DB07959;DB07075;DB07025;DB06852;DB07336;DB08780;DB05149;
snps: rs3731410 rs35817404 rs34097480 rs506504
reactome:
R-HSA-1433557;R-HSA-176187;R-HSA-5693607;R-HSA-5693616;R-HSA-6796648;R-HSA-6804756;R-HSA-69473;R-HSA-69601;R-HSA-75035;R-HSA-8953750;

pdb:
1IA8;1NVQ;1NVR;1NVS;1ZLT;1ZYS;2AYP;2BR1;2BRB;2BRG;2BRH;2BRM;2BRN;2BRO;2C3J;2C3K;2C3L;2CGU;2CGV;2CGW;2CGX;2E9N;2E9O;2E9P;2E9U;2E9V;2GDO;2GHG;2HOG;2HXL;2HXQ;2HY0;2QHM;2QHN;2R0U;2WMQ;2WMR;2WMS;2WMT;2WMU;2WMV;2WMW;2WMX;2X8D;2X8E;2X8I;2XEY;2XEZ;2XF0;2YDI;2YDJ;2YDK;2YER;2YEX;2YM3;2YM4;2YM5;2YM6;2YM7;2YM8;2YWP;3F9N;3JVR;3JVS;3NLB;3OT3;3OT8;3PA3;3PA4;3PA5;3TKH;3TKI;3U9N;4FSM;4FSN;4FSQ;4FSR;4FST;4FSU;4FSW;4FSY;4FSZ;4FT0;4FT3;4FT5;4FT7;4FT9;4FTA;4FTC;4FTI;4FTJ;4FTK;4FTL;4FTM;4FTN;4FTO;4FTQ;4FTR;4FTT;4FTU;4GH2;4HYH;4HYI;4JIK;4QYE;4QYF;4QYG;4QYH;4RVK;4RVL;4RVM;5DLS;5F4N;5OOP;5OOR;5OOT;5OP2;5OP4;5OP5;5OP7;5OPB;5OPR;5OPS;5OPU;5OPV;5OQ5;5OQ6;5OQ7;5OQ8;5WI2;6FC8;6FCF;6FCK;

name:
Serine/threonine-protein kinase Chk1 (EC 2.7.11.1) (CHK1 checkpoint homolog) (Cell cycle checkpoint kinase) (Checkpoint kinase-1)

sequence:

opentargets:
centrosome [GO:0005813]; chromatin [GO:0000785]; condensed nuclear chromosome [GO:0000794]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; histone kinase activity (H3-T11 specific) [GO:0035402]; kinase activity [GO:0016301]; protein domain specific binding [GO:0019904]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to mechanical stimulus [GO:0071260]; chromatin-mediated maintenance of transcription [GO:0048096]; DNA damage checkpoint [GO:0000077]; DNA damage induced protein phosphorylation [GO:0006975]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; intracellular signal transduction [GO:0035556]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of mitotic nuclear division [GO:0045839]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of cell cycle [GO:0045787]; protein phosphorylation [GO:0006468]; regulation of double-strand break repair via homologous recombination [GO:0010569]; regulation of histone H3-K9 acetylation [GO:2000615]; regulation of mitotic centrosome separation [GO:0046602]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage [GO:0010767]; replicative senescence [GO:0090399]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O14757-1; Sequence=Displayed; Name=2; Synonyms=Chk1-short, Chk1-S; IsoId=O14757-2; Sequence=VSP_044008, VSP_044009; Name=3; IsoId=O14757-3; Sequence=VSP_045075; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Nuclear export is mediated at least in part by XPO1/CRM1. Also localizes to the centrosome specifically during interphase, where it may protect centrosomal CDC2 kinase from inappropriate activation by cytoplasmic CDC25B.


uniprotID: O15169
geneSymbol: AXIN1
pdb: 1DK8;1EMU;1O9U;3ZDI;4B7T;4NM0;4NM3;4NM5;4NM7;4NU1;5WZZ;
name: Axin-1 (Axis inhibition protein 1) (hAxin)
length: 862
go: ENSG00000103126;
snps: rs779951904 rs116350678 rs117208012 rs34015754
reactome:
R-HSA-195253;R-HSA-196299;R-HSA-201681;R-HSA-4641257;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5689880;R-HSA-8931987;R-HSA-8939256;R-HSA-9018519;

sequence:

opentargets:
beta-catenin destruction complex [GO:0030877]; cell periphery [GO:0071944]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; lateral plasma membrane [GO:0016328]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; armadillo repeat domain binding [GO:0070016]; beta-catenin binding [GO:0008013]; enzyme binding [GO:0019899]; I-SMAD binding [GO:0070411]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein-containing complex scaffold activity [GO:0032947]; receptor signaling complex scaffold activity [GO:0030159]; signaling adaptor activity [GO:0035591]; SMAD binding [GO:0046332]; ubiquitin protein ligase binding [GO:0031625]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; beta-catenin destruction complex assembly [GO:1904885]; beta-catenin destruction complex disassembly [GO:1904886]; cellular protein-containing complex assembly [GO:0034622]; multicellular organism development [GO:0007275]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of JNK cascade [GO:0046330]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; regulation of Wnt signaling pathway [GO:0030111]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15169-1; Sequence=Displayed; Name=2; IsoId=O15169-2; Sequence=VSP_019398; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16601693}. Nucleus {ECO:0000269|PubMed:17210684}. Membrane {ECO:0000250|UniProtKB:O35625}. Cell membrane {ECO:0000250|UniProtKB:O35625}. Note=MACF1 is required for its translocation to cell membrane (By similarity). On UV irradiation, translocates to the nucleus and colocalizes with DAAX (PubMed:17210684). {ECO:0000250|UniProtKB:O35625, ECO:0000269|PubMed:17210684}.


uniprotID: P06276
geneSymbol: BCHE
reactome: R-HSA-112311;R-HSA-1483191;R-HSA-422085;
length: 602
go: ENSG00000114200;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19368529, ECO:0000269|PubMed:19542320}.
pdb:
1EHO;1EHQ;1KCJ;1P0I;1P0M;1P0P;1P0Q;1XLU;1XLV;1XLW;2J4C;2PM8;2WID;2WIF;2WIG;2WIJ;2WIK;2WIL;2WSL;2XMB;2XMC;2XMD;2XMG;2XQF;2XQG;2XQI;2XQJ;2XQK;2Y1K;3DJY;3DKK;3O9M;4AQD;4AXB;4B0O;4B0P;4BBZ;4BDS;4TPK;4XII;5DYT;5DYW;5DYY;5K5E;5LKR;5NN0;6EMI;6EP4;6EQP;6EQQ;6ESJ;6ESY;6F7Q;

name:
Cholinesterase (EC 3.1.1.8) (Acylcholine acylhydrolase) (Butyrylcholine esterase) (Choline esterase II) (Pseudocholinesterase)

sequence:

opentargets:
blood microparticle [GO:0072562]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; membrane [GO:0016020]; nuclear envelope lumen [GO:0005641]; acetylcholinesterase activity [GO:0003990]; amyloid-beta binding [GO:0001540]; catalytic activity [GO:0003824]; choline binding [GO:0033265]; cholinesterase activity [GO:0004104]; enzyme binding [GO:0019899]; hydrolase activity, acting on ester bonds [GO:0016788]; identical protein binding [GO:0042802]; choline metabolic process [GO:0019695]; cocaine metabolic process [GO:0050783]; learning [GO:0007612]; negative regulation of cell proliferation [GO:0008285]; negative regulation of synaptic transmission [GO:0050805]; neuroblast differentiation [GO:0014016]; response to alkaloid [GO:0043279]; response to folic acid [GO:0051593]; response to glucocorticoid [GO:0051384]

drug:
DB08200;DB08201;DB03814;DB03672;DB08897;DB01122;DB01408;DB03568;DB04250;DB06774;DB01161;DB00856;DB00477;DB00122;DB00527;DB00515;DB04920;DB00979;DB01245;DB00944;DB00711;DB02811;DB00449;DB07681;DB01135;DB01395;DB01525;DB01057;DB01010;DB01364;DB00392;DB03822;DB08658;DB00674;DB06756;DB00941;DB00762;DB00677;DB00772;DB00358;DB02845;DB08893;DB01226;DB04251;DB01400;DB00585;DB00892;DB01337;DB00082;DB00183;DB00790;DB04892;DB01338;DB00733;DB01035;DB00721;DB00545;DB00178;DB05386;DB00989;DB05875;DB00202;DB00391;DB00382;DB00871;DB00620;DB00508;DB01116;

snps:
rs116047990 rs56309853 rs531738678 rs116097205 rs148170012 rs1799807 rs979653503 rs755600722 rs3732880 rs201820739 rs747598704 rs121918558 rs527843566 rs781368801 rs370077923 rs28933389 rs892642457 rs16849700 rs115624085 rs754644618 rs104893684 rs770337031 rs121918557 rs115129687 rs745364489 rs28933390 rs200998515 rs115017300 rs769316835 rs121918556 rs199660374 rs1803274 


uniprotID: Q07817
geneSymbol: BCL2L1
reactome: R-HSA-111453;R-HSA-6785807;R-HSA-844455;
name: Bcl-2-like protein 1 (Bcl2-L-1) (Apoptosis regulator Bcl-X)
length: 233
go: ENSG00000171552;
pdb:
1BXL;1G5J;1LXL;1MAZ;1R2D;1R2E;1R2G;1R2H;1R2I;1YSG;1YSI;1YSN;2B48;2LP8;2LPC;2M03;2M04;2ME8;2ME9;2MEJ;2O1Y;2O2M;2O2N;2P1L;2PON;2YJ1;2YQ6;2YQ7;2YXJ;3CVA;3FDL;3FDM;3INQ;3IO8;3PL7;3QKD;3R85;3SP7;3SPF;3WIZ;3ZK6;3ZLN;3ZLO;3ZLR;4A1U;4A1W;4AQ3;4BPK;4C52;4C5D;4CIN;4EHR;4HNJ;4IEH;4PPI;4QVE;4QVF;4QVX;4TUH;4Z9V;5AGW;5AGX;5B1Z;5C3G;5FMJ;5FMK;5VAY;5VX3;6BF2;6DCN;6DCO;6F46;

sequence:

opentargets:
Bcl-2 family protein complex [GO:0097136]; cell junction [GO:0030054]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear membrane [GO:0031965]; synaptic vesicle membrane [GO:0030672]; BH3 domain binding [GO:0051434]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; apoptotic mitochondrial changes [GO:0008637]; apoptotic process in bone marrow [GO:0071839]; cell proliferation [GO:0008283]; cellular process regulating host cell cycle in response to virus [GO:0060154]; cellular response to alkaloid [GO:0071312]; cellular response to amino acid stimulus [GO:0071230]; cellular response to gamma radiation [GO:0071480]; cytokine-mediated signaling pathway [GO:0019221]; endocytosis [GO:0006897]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; fertilization [GO:0009566]; germ cell development [GO:0007281]; hepatocyte apoptotic process [GO:0097284]; in utero embryonic development [GO:0001701]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; male gonad development [GO:0008584]; mitochondrion morphogenesis [GO:0070584]; mitotic cell cycle checkpoint [GO:0007093]; negative regulation of anoikis [GO:2000811]; negative regulation of apoptotic process [GO:0043066]; negative regulation of autophagy [GO:0010507]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of execution phase of apoptosis [GO:1900118]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein localization to plasma membrane [GO:1903077]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; neuron apoptotic process [GO:0051402]; ovarian follicle development [GO:0001541]; positive regulation of cell proliferation [GO:0008284]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; regulation of cytokinesis [GO:0032465]; regulation of growth [GO:0040008]; regulation of mitochondrial membrane permeability [GO:0046902]; regulation of mitochondrial membrane potential [GO:0051881]; release of cytochrome c from mitochondria [GO:0001836]; response to cycloheximide [GO:0046898]; response to cytokine [GO:0034097]; spermatogenesis [GO:0007283]; suppression by virus of host apoptotic process [GO:0019050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Bcl-X(L); Synonyms=Bcl-xL; IsoId=Q07817-1; Sequence=Displayed; Name=Bcl-X(S); Synonyms=Bcl-xS; IsoId=Q07817-2; Sequence=VSP_000515; Name=Bcl-X(beta); IsoId=Q07817-3; Sequence=VSP_000516; 

location:
SUBCELLULAR LOCATION: Isoform Bcl-X(L): Mitochondrion inner membrane {ECO:0000250}. Mitochondrion outer membrane {ECO:0000250}. Mitochondrion matrix {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=After neuronal stimulation, translocates from cytosol to synaptic vesicle and mitochondrion membrane in a calmodulin-dependent manner (By similarity). Localizes to the centrosome when phosphorylated at Ser-49. {ECO:0000250}.


uniprotID: Q9HB09
geneSymbol: BCL2L12
name: Bcl-2-like protein 12 (Bcl2-L-12) (Bcl-2-related proline-rich protein)
length: 334
go: ENSG00000126453;
snps: rs2060263
sequence:

opentargets:
membrane [GO:0016020]; nucleus [GO:0005634]; p53 binding [GO:0002039]; apoptotic process [GO:0006915]; inhibition of cysteine-type endopeptidase activity involved in apoptotic process [GO:1990001]; negative regulation of cellular senescence [GO:2000773]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HB09-1; Sequence=Displayed; Name=2; IsoId=Q9HB09-2; Sequence=VSP_000522, VSP_000523; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9HB09-3; Sequence=VSP_043269; Note=No experimental confirmation available.; 


uniprotID: Q9Y2C3
geneSymbol: B3GALT5
length: 310
go: ENSG00000183778;
snps: rs12627708 rs3746887 rs734411
name:
Beta-1,3-galactosyltransferase 5 (Beta-1,3-GalTase 5) (Beta3Gal-T5) (Beta3GalT5) (b3Gal-T5) (EC 2.4.1.-) (Beta-3-Gx-T5) (UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5) (UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]; protein N-linked glycosylation [GO:0006487]


uniprotID: Q9NZZ3
geneSymbol: CHMP5
reactome: R-HSA-162588;R-HSA-917729;
pdb: 2LXM;3ULY;3UM0;3UM1;3UM2;4TXR;
length: 219
go: ENSG00000086065;
name:
Charged multivesicular body protein 5 (Chromatin-modifying protein 5) (SNF7 domain-containing protein 2) (Vacuolar protein sorting-associated protein 60) (Vps60) (hVps60)

sequence:

opentargets:
cytosol [GO:0005829]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to muramyl dipeptide [GO:0071225]; endosome to lysosome transport [GO:0008333]; ESCRT III complex disassembly [GO:1904903]; lysosome organization [GO:0007040]; midbody abscission [GO:0061952]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; multivesicular body sorting pathway [GO:0071985]; nucleus organization [GO:0006997]; protein transport [GO:0015031]; regulation of centrosome duplication [GO:0010824]; regulation of mitotic spindle assembly [GO:1901673]; regulation of receptor recycling [GO:0001919]; viral budding [GO:0046755]; viral life cycle [GO:0019058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZZ3-1; Sequence=Displayed; Name=2; IsoId=Q9NZZ3-2; Sequence=VSP_042556; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body.


uniprotID: Q96FZ7
geneSymbol: CHMP6
reactome: R-HSA-162588;R-HSA-1632852;R-HSA-917729;
pdb: 2K3W;3HTU;
length: 201
go: ENSG00000176108;
snps: rs61037507
name:
Charged multivesicular body protein 6 (Chromatin-modifying protein 6) (Vacuolar protein sorting-associated protein 20) (Vps20) (hVps20)

sequence:

opentargets:
cytosol [GO:0005829]; endosome membrane [GO:0010008]; ESCRT III complex [GO:0000815]; extracellular exosome [GO:0070062]; late endosome membrane [GO:0031902]; membrane [GO:0016020]; protein N-terminus binding [GO:0047485]; protein-containing complex binding [GO:0044877]; endosomal transport [GO:0016197]; ESCRT III complex assembly [GO:1904902]; macroautophagy [GO:0016236]; midbody abscission [GO:0061952]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; nucleus organization [GO:0006997]; protein transport [GO:0015031]; regulation of protein catabolic process [GO:0042176]; vacuolar transport [GO:0007034]; viral budding via host ESCRT complex [GO:0039702]; viral life cycle [GO:0019058]

location:
SUBCELLULAR LOCATION: Endomembrane system. Endosome membrane; Lipid-anchor. Late endosome membrane {ECO:0000305}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Localizes to endosomal membranes.


uniprotID: Q8WUX9
geneSymbol: CHMP7
reactome: R-HSA-162588;R-HSA-1632852;R-HSA-917729;
name: Charged multivesicular body protein 7 (Chromatin-modifying protein 7)
length: 453
go: ENSG00000147457;
sequence:

opentargets:
cytosol [GO:0005829]; ESCRT III complex [GO:0000815]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; protein transporter activity [GO:0008565]; endosomal transport [GO:0016197]; ESCRT III complex disassembly [GO:1904903]; exit from mitosis [GO:0010458]; late endosome to vacuole transport [GO:0045324]; midbody abscission [GO:0061952]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; nuclear envelope reassembly [GO:0031468]; nucleus organization [GO:0006997]; protein localization to chromatin [GO:0071168]; viral budding via host ESCRT complex [GO:0039702]; viral life cycle [GO:0019058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUX9-1; Sequence=Displayed; Name=2; IsoId=Q8WUX9-2; Sequence=VSP_056945, VSP_056946; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16856878}. Nucleus envelope {ECO:0000269|PubMed:26040712}. Note=Diffused localization, with some punctate distribution, especially in the perinuclear area (PubMed:16856878). Localizes to the nucleus envelope during late anaphase (PubMed:26040712). {ECO:0000269|PubMed:16856878, ECO:0000269|PubMed:26040712}.


uniprotID: Q6ZMB0
geneSymbol: B3GNT6
reactome: R-HSA-913709;
length: 384
go: ENSG00000198488;
name:
Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase (EC 2.4.1.147) (Core 3 synthase) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6) (BGnT-6) (Beta-1,3-Gn-T6) (Beta-1,3-N-acetylglucosaminyltransferase 6) (Beta3Gn-T6)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity [GO:0047224]; acetylgalactosaminyltransferase activity [GO:0008376]; beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity [GO:0047223]; galactosyltransferase activity [GO:0008378]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; glycoprotein biosynthetic process [GO:0009101]; O-glycan processing [GO:0016266]; O-glycan processing, core 3 [GO:0016269]; poly-N-acetyllactosamine biosynthetic process [GO:0030311]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZMB0-1; Sequence=Displayed; Name=2; IsoId=Q6ZMB0-2; Sequence=VSP_025963, VSP_025964; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZMB0-3; Sequence=VSP_047091; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:15755813}; Single-pass type II membrane protein {ECO:0000269|PubMed:15755813}.


uniprotID: Q8NFL0
geneSymbol: B3GNT7
reactome: R-HSA-2022854;R-HSA-913709;
length: 401
go: ENSG00000156966;
snps: rs2290130
name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (BGnT-7) (Beta-1,3-Gn-T7) (Beta-1,3-N-acetylglucosaminyltransferase 7) (Beta3Gn-T7) (EC 2.4.1.-)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; keratan sulfate biosynthetic process [GO:0018146]; O-glycan processing [GO:0016266]; poly-N-acetyllactosamine biosynthetic process [GO:0030311]; protein glycosylation [GO:0006486]


uniprotID: Q7Z7M8
geneSymbol: B3GNT8
reactome: R-HSA-913709;
length: 397
go: ENSG00000177191;
snps: rs284662
name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (BGnT-8) (Beta-1,3-Gn-T8) (Beta-1,3-N-acetylglucosaminyltransferase 8) (Beta3Gn-T8) (EC 2.4.1.-)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532]; protein N-acetylglucosaminyltransferase activity [GO:0016262]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; O-glycan processing [GO:0016266]; poly-N-acetyllactosamine biosynthetic process [GO:0030311]; protein glycosylation [GO:0006486]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9NY97}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q9NY97}.


uniprotID: Q6UX72
geneSymbol: B3GNT9
reactome: R-HSA-913709;
length: 402
go: ENSG00000237172;
name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 (BGnT-9) (Beta-1,3-Gn-T9) (Beta-1,3-N-acetylglucosaminyltransferase 9) (Beta3Gn-T9) (EC 2.4.1.-)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; fibrillar center [GO:0001650]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; galactosyltransferase activity [GO:0008378]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532]; poly-N-acetyllactosamine biosynthetic process [GO:0030311]; protein glycosylation [GO:0006486]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000255}; Single-pass type II membrane protein {ECO:0000255}.


uniprotID: Q67FW5
geneSymbol: B3GNTL1
reactome: R-HSA-913709;
length: 361
go: ENSG00000175711;
opentargets: transferase activity, transferring glycosyl groups [GO:0016757]
snps: rs7225887
name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 (BGnT-like protein 1) (Beta1,3-N-acetylglucosaminyltransferase-like protein 1) (Beta3Gn-T-like protein 1) (Beta3GnTL1) (EC 2.4.1.-) (Beta-1,3-N-acetylglucosaminyltransferase 8) (BGnT-8) (Beta-1,3-Gn-T8) (Beta3Gn-T8)

sequence:


uniprotID: Q8NHY0
geneSymbol: B4GALNT2
reactome: R-HSA-446203;
length: 566
go: ENSG00000167080;
snps: rs7207403 rs7224888
name:
Beta-1,4 N-acetylgalactosaminyltransferase 2 (EC 2.4.1.-) (Sd(a) beta-1,4-GalNAc transferase) (UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; lipid glycosylation [GO:0030259]; negative regulation of cell-cell adhesion [GO:0022408]; protein N-linked glycosylation via asparagine [GO:0018279]; UDP-N-acetylgalactosamine metabolic process [GO:0019276]; UDP-N-acetylglucosamine metabolic process [GO:0006047]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NHY0-1; Sequence=Displayed; Name=2; IsoId=Q8NHY0-2; Sequence=VSP_017131; Name=3; IsoId=Q8NHY0-3; Sequence=VSP_045195; Note=No experimental confirmation available.; 


uniprotID: Q6L9W6
geneSymbol: B4GALNT3
length: 998
go: ENSG00000139044;
snps: rs2075033 rs11063529 rs7298766 rs11063570 rs36078145
name:
Beta-1,4-N-acetylgalactosaminyltransferase 3 (B4GalNAcT3) (Beta4GalNAc-T3) (Beta4GalNAcT3) (EC 2.4.1.244) (Beta-1,4-N-acetylgalactosaminyltransferase III) (N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2) (NGalNAc-T2)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity [GO:0033842]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:16728562}; Single-pass type II membrane protein {ECO:0000269|PubMed:16728562}. Note=Localizes to apical Golgi.


uniprotID: Q76KP1
geneSymbol: B4GALNT4
length: 1039
go: ENSG00000182272;
snps: rs34063493 rs11822725
name:
N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 (NGalNAc-T1) (EC 2.4.1.244) (Beta-1,4-N-acetylgalactosaminyltransferase IV) (Beta4GalNAc-T4) (Beta4GalNAcT4)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity [GO:0033842]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.


uniprotID: O60909
geneSymbol: B4GALT2
reactome: R-HSA-2022854;R-HSA-975577;
length: 372
go: ENSG00000117411;
drug: DB00141;
snps: rs1859728 rs35904809
name:
Beta-1,4-galactosyltransferase 2 (Beta-1,4-GalTase 2) (Beta4Gal-T2) (b4Gal-T2) (EC 2.4.1.-) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2) [Includes: Lactose synthase A protein (EC 2.4.1.22); N-acetyllactosamine synthase (EC 2.4.1.90) (Nal synthase); Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase (EC 2.4.1.38); Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase (EC 2.4.1.-)]

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity [GO:0003831]; galactosyltransferase activity [GO:0008378]; lactose synthase activity [GO:0004461]; metal ion binding [GO:0046872]; N-acetyllactosamine synthase activity [GO:0003945]; carbohydrate metabolic process [GO:0005975]; cerebellar Purkinje cell layer development [GO:0021680]; keratan sulfate biosynthetic process [GO:0018146]; locomotory behavior [GO:0007626]; memory [GO:0007613]; protein glycosylation [GO:0006486]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60909-1; Sequence=Displayed; Name=2; IsoId=O60909-2; Sequence=VSP_014103, VSP_014104; Note=No experimental confirmation available.; Name=3; IsoId=O60909-3; Sequence=VSP_043010; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans cisternae of Golgi stack.


uniprotID: O60512
geneSymbol: B4GALT3
reactome: R-HSA-2022854;R-HSA-975577;
length: 393
go: ENSG00000158850;
drug: DB00141;
name:
Beta-1,4-galactosyltransferase 3 (Beta-1,4-GalTase 3) (Beta4Gal-T3) (b4Gal-T3) (EC 2.4.1.-) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3) [Includes: N-acetyllactosamine synthase (EC 2.4.1.90) (Nal synthase); Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase (EC 2.4.1.38); Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase (EC 2.4.1.-)]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity [GO:0003831]; galactosyltransferase activity [GO:0008378]; metal ion binding [GO:0046872]; N-acetyllactosamine synthase activity [GO:0003945]; carbohydrate metabolic process [GO:0005975]; galactosylceramide biosynthetic process [GO:0006682]; keratan sulfate biosynthetic process [GO:0018146]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60512-1; Sequence=Displayed; Name=2; IsoId=O60512-2; Sequence=VSP_014106, VSP_014107; Note=No experimental confirmation available.; 


uniprotID: Q9UBX8
geneSymbol: B4GALT6
reactome: R-HSA-2022854;R-HSA-913709;R-HSA-975577;
length: 382
go: ENSG00000118276;
snps: rs34683195
name:
Beta-1,4-galactosyltransferase 6 (Beta-1,4-GalTase 6) (Beta4Gal-T6) (b4Gal-T6) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6) [Includes: Glucosylceramide beta-1,4-galactosyltransferase (EC 2.4.1.274) (Lactosylceramide synthase) (LacCer synthase) (UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase)]

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity [GO:0003831]; galactosyltransferase activity [GO:0008378]; metal ion binding [GO:0046872]; carbohydrate metabolic process [GO:0005975]; keratan sulfate biosynthetic process [GO:0018146]; lactosylceramide biosynthetic process [GO:0001572]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBX8-1; Sequence=Displayed; Name=2; IsoId=Q9UBX8-2; Sequence=VSP_056554; Note=No experimental confirmation available.; 


uniprotID: Q14032
geneSymbol: BAAT
reactome: R-HSA-159418;R-HSA-193368;R-HSA-9033241;
length: 418
go: ENSG00000136881;
drug: DB00145;DB05990;
snps: rs1572983 rs28937579
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12810727}.
name:
Bile acid-CoA:amino acid N-acyltransferase (BACAT) (BAT) (EC 2.3.1.65) (Glycine N-choloyltransferase) (Long-chain fatty-acyl-CoA hydrolase) (EC 3.1.2.2)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; glycine N-choloyltransferase activity [GO:0047963]; long-chain acyl-CoA hydrolase activity [GO:0052816]; medium-chain acyl-CoA hydrolase activity [GO:0052815]; myristoyl-CoA hydrolase activity [GO:0102991]; N-acyltransferase activity [GO:0016410]; palmitoyl-CoA hydrolase activity [GO:0016290]; signaling receptor binding [GO:0005102]; transferase activity, transferring acyl groups [GO:0016746]; very long chain acyl-CoA hydrolase activity [GO:0052817]; acyl-CoA metabolic process [GO:0006637]; animal organ regeneration [GO:0031100]; bile acid biosynthetic process [GO:0006699]; bile acid conjugation [GO:0002152]; bile acid metabolic process [GO:0008206]; fatty acid metabolic process [GO:0006631]; glycine metabolic process [GO:0006544]; liver development [GO:0001889]; protein targeting to peroxisome [GO:0006625]; taurine metabolic process [GO:0019530]


uniprotID: Q99653
geneSymbol: CHP1
reactome: R-HSA-2160916;
pdb: 2E30;
length: 195
go: ENSG00000187446;
name:
Calcineurin B homologous protein 1 (Calcineurin B-like protein) (Calcium-binding protein CHP) (Calcium-binding protein p22) (EF-hand calcium-binding domain-containing protein p22)

sequence:
MGSRASTLLRDEELEEIKKETGFSHSQITRLYSRFTSLDKGENGTLSREDFQRIPELAINPLGDRIINAFFPEGEDQVNFRGFMRTLAHFRPIEDNEKSKDVNGPEPLNSRSNKLHFAFRLYDLDKDEKISRDELLQVLRMMVGVNISDEQLGSIADRTIQEADQDGDSAISFTEFVKVLEKVDVEQKMSIRFLH

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; Golgi membrane [GO:0000139]; microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; kinase binding [GO:0019900]; microtubule binding [GO:0008017]; potassium channel regulator activity [GO:0015459]; protein kinase inhibitor activity [GO:0004860]; transporter activity [GO:0005215]; calcium ion regulated exocytosis [GO:0017156]; cellular response to acidic pH [GO:0071468]; cytoplasmic microtubule organization [GO:0031122]; hyaluronan catabolic process [GO:0030214]; membrane docking [GO:0022406]; membrane fusion [GO:0061025]; membrane organization [GO:0061024]; microtubule bundle formation [GO:0001578]; negative regulation of calcineurin-NFAT signaling cascade [GO:0070885]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of phosphatase activity [GO:0010923]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein ubiquitination [GO:0031397]; positive regulation of protein glycosylation [GO:0060050]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of protein transport [GO:0051222]; positive regulation of sodium:proton antiporter activity [GO:0032417]; potassium ion transport [GO:0006813]; protein complex oligomerization [GO:0051259]; protein export from nucleus [GO:0006611]; protein stabilization [GO:0050821]; regulation of intracellular pH [GO:0051453]; regulation of neuron death [GO:1901214]; small GTPase mediated signal transduction [GO:0007264]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P61023}. Cytoplasm {ECO:0000250|UniProtKB:P61023}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P61023}. Endomembrane system {ECO:0000250|UniProtKB:P61023}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000250|UniProtKB:P61023}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P61023}. Cell membrane {ECO:0000269|PubMed:15035633}. Membrane {ECO:0000269|PubMed:11350981}; Lipid-anchor {ECO:0000269|PubMed:25255805}. Note=Localizes in cytoplasmic compartments in dividing cells. Localizes in the nucleus in quiescent cells. Exported from the nucleus to the cytoplasm through a nuclear export signal (NES) and CRM1-dependent pathway. May shuttle between nucleus and cytoplasm. Localizes with the microtubule-organizing center (MTOC) and extends toward the periphery along microtubules. Associates with membranes of the early secretory pathway in a GAPDH-independent, N-myristoylation- and calcium-dependent manner. Colocalizes with the mitotic spindle microtubules. Colocalizes with GAPDH along microtubules. Colocalizes with SLC9A1 at the reticulum endoplasmic and plasma membrane. Colocalizes with STK17B at the plasma membrane. {ECO:0000250|UniProtKB:P61023}.


uniprotID: Q9UPM9
geneSymbol: B9D1
reactome: R-HSA-5620912;
name: B9 domain-containing protein 1 (MKS1-related protein 1)
length: 204
go: ENSG00000108641;
snps: rs771170000 rs546359789 rs73980038 rs886038205
sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary transition zone [GO:0035869]; cytosol [GO:0005829]; membrane [GO:0016020]; MKS complex [GO:0036038]; hedgehog receptor activity [GO:0008158]; camera-type eye development [GO:0043010]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; embryonic digit morphogenesis [GO:0042733]; in utero embryonic development [GO:0001701]; neuroepithelial cell differentiation [GO:0060563]; regulation of protein localization [GO:0032880]; smoothened signaling pathway [GO:0007224]; vasculature development [GO:0001944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPM9-1; Sequence=Displayed; Name=2; IsoId=Q9UPM9-2; Sequence=VSP_028770; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:19208769}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:19208769}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.


uniprotID: Q8WZ19
geneSymbol: KCTD13
pdb: 4UIJ;
length: 329
go: ENSG00000174943;
snps: rs774536350
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11593007}.
name:
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1 (hBACURD1) (BTB/POZ domain-containing protein KCTD13) (Polymerase delta-interacting protein 1) (TNFAIP1-like protein)

sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; nuclear body [GO:0016604]; nucleus [GO:0005634]; GTP-Rho binding [GO:0017049]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; cell migration [GO:0016477]; DNA replication [GO:0006260]; negative regulation of Rho protein signal transduction [GO:0035024]; positive regulation of DNA replication [GO:0045740]; positive regulation of synaptic transmission [GO:0050806]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein homooligomerization [GO:0051260]; protein ubiquitination [GO:0016567]; stress fiber assembly [GO:0043149]


uniprotID: Q8NB49
geneSymbol: ATP11C
reactome: R-HSA-936837;
length: 1132
go: ENSG00000101974;
snps: rs2491014 rs17281983 rs55724992
name:
Phospholipid-transporting ATPase IG (EC 7.6.2.1) (ATPase IQ) (ATPase class VI type 11C) (P4-ATPase flippase complex alpha subunit ATP11C)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; trans-Golgi network [GO:0005802]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; ion transmembrane transport [GO:0034220]; phospholipid translocation [GO:0045332]; positive regulation of B cell differentiation [GO:0045579]; pre-B cell differentiation [GO:0002329]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NB49-1; Sequence=Displayed; Name=2; IsoId=Q8NB49-2; Sequence=VSP_007309; Note=No experimental confirmation available.; Name=3; IsoId=Q8NB49-3; Sequence=VSP_013373; Name=4; IsoId=Q8NB49-4; Sequence=VSP_013374; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21914794}; Multi-pass membrane protein {ECO:0000269|PubMed:21914794}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:21914794}. Note=Efficient exit from the endoplasmic reticulum requires the presence of TMEM30A. Some cell membrane localization observed in the presence of TMEM30B.


uniprotID: P48201
geneSymbol: ATP5MC3
reactome: R-HSA-163210;R-HSA-8949613;
length: 142
go: ENSG00000154518;
snps: rs1802622
location: SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein.
name:
ATP synthase F(0) complex subunit C3, mitochondrial (ATP synthase lipid-binding protein) (ATP synthase membrane subunit c locus 3) (ATP synthase proteolipid P3) (ATP synthase proton-transporting mitochondrial F(0) complex subunit C3) (ATPase protein 9) (ATPase subunit c)

sequence:
MFACAKLACTPSLIRAGSRVAYRPISASVLSRPEASRTGEGSTVFNGAQNGVSQLIQREFQTSAISRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGYARNPSLKQQLFSYAILGFALSEAMGLFCLMVAFLILFAM

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; proton-transporting ATP synthase complex, coupling factor F(o) [GO:0045263]; lipid binding [GO:0008289]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; transporter activity [GO:0005215]; ATP biosynthetic process [GO:0006754]; ATP hydrolysis coupled proton transport [GO:0015991]; ATP synthesis coupled proton transport [GO:0015986]; cristae formation [GO:0042407]


uniprotID: Q96GV9
geneSymbol: C5orf30
name: UNC119-binding protein C5orf30
length: 206
go: ENSG00000181751;
sequence:

opentargets:
ciliary transition zone [GO:0035869]; cytoplasm [GO:0005737]; cilium assembly [GO:0060271]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of fibroblast migration [GO:0010764]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22085962}. Cell projection, cilium {ECO:0000269|PubMed:22085962}. Note=Localizes to the transition zone and proximal cilium in addition to being found throughout the cytoplasm. {ECO:0000269|PubMed:22085962}.


uniprotID: P13688
geneSymbol: CEACAM1
reactome: R-HSA-1566977;R-HSA-202733;R-HSA-6798695;
pdb: 2GK2;4QXW;4WHD;5DZL;6AW2;6GBG;6GBH;
length: 526
go: ENSG00000079385;
drug: DB00113;
snps: rs8111171 rs8110904 rs8111468 rs41355544
name:
Carcinoembryonic antigen-related cell adhesion molecule 1 (Biliary glycoprotein 1) (BGP-1) (CD antigen CD66a)

sequence:

opentargets:
adherens junction [GO:0005912]; apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; cell junction [GO:0030054]; cell surface [GO:0009986]; cell-cell junction [GO:0005911]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lateral plasma membrane [GO:0016328]; membrane [GO:0016020]; microvillus membrane [GO:0031528]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; transport vesicle membrane [GO:0030658]; actin binding [GO:0003779]; bile acid transmembrane transporter activity [GO:0015125]; calmodulin binding [GO:0005516]; filamin binding [GO:0031005]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; protein phosphatase binding [GO:0019903]; protein tyrosine kinase binding [GO:1990782]; angiogenesis [GO:0001525]; bile acid and bile salt transport [GO:0015721]; blood vessel development [GO:0001568]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; cellular response to insulin stimulus [GO:0032869]; common myeloid progenitor cell proliferation [GO:0035726]; granulocyte colony-stimulating factor signaling pathway [GO:0038158]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; insulin catabolic process [GO:1901143]; insulin receptor internalization [GO:0038016]; integrin-mediated signaling pathway [GO:0007229]; leukocyte migration [GO:0050900]; negative regulation of cytotoxic T cell degranulation [GO:0043318]; negative regulation of fatty acid biosynthetic process [GO:0045717]; negative regulation of granulocyte differentiation [GO:0030853]; negative regulation of hepatocyte proliferation [GO:2000346]; negative regulation of interleukin-1 production [GO:0032692]; negative regulation of lipid biosynthetic process [GO:0051055]; negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002859]; negative regulation of platelet aggregation [GO:0090331]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of T cell mediated cytotoxicity [GO:0001915]; negative regulation of T cell receptor signaling pathway [GO:0050860]; negative regulation of vascular permeability [GO:0043116]; neutrophil degranulation [GO:0043312]; positive regulation of vasculogenesis [GO:2001214]; regulation of blood vessel remodeling [GO:0060312]; regulation of cell growth [GO:0001558]; regulation of cell migration [GO:0030334]; regulation of endothelial cell differentiation [GO:0045601]; regulation of endothelial cell migration [GO:0010594]; regulation of epidermal growth factor receptor signaling pathway [GO:0042058]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of homophilic cell adhesion [GO:1903385]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; regulation of sprouting angiogenesis [GO:1903670]; wound healing, spreading of cells [GO:0044319]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Name=1; Synonyms=BGPa, CEACAM1-4L {ECO:0000303|PubMed:11501563}, TM1-CEA; IsoId=P13688-1; Sequence=Displayed; Name=2; Synonyms=BGPg, CEACAM1-4C1 {ECO:0000303|PubMed:11501563}; IsoId=P13688-2; Sequence=VSP_002482, VSP_002483; Name=3; Synonyms=BGPh, CEACAM1-3 {ECO:0000303|PubMed:11501563}; IsoId=P13688-3; Sequence=VSP_002478, VSP_002479; Name=4; Synonyms=BGPi, CEACAM1-3C2 {ECO:0000303|PubMed:11501563}; IsoId=P13688-4; Sequence=VSP_002480, VSP_002481; Name=5; Synonyms=BGPy, CEACAM1-3AL {ECO:0000303|PubMed:11501563}; IsoId=P13688-5; Sequence=VSP_009227; Name=6; Synonyms=BGPb, CEACAM1-3L {ECO:0000303|PubMed:11501563}, TM2-CEA; IsoId=P13688-6; Sequence=VSP_010938; Name=7; Synonyms=BGPx, CEACAM1-1L {ECO:0000303|PubMed:11501563}; IsoId=P13688-7; Sequence=VSP_012222; Name=8; Synonyms=BGPc, CEACAM1-4S {ECO:0000303|PubMed:11501563}, TM3-CEA; IsoId=P13688-8; Sequence=VSP_040572, VSP_040574; Note=Pseudophosphorylated double mutant Thr-457->Asp and Ser-459->Asp. The single mutant Ser-459->Asp mutant highly binds with ANXA2. {ECO:0000269|PubMed:14522961}; Name=9; Synonyms=BGPz, CEACAM1-3AS; IsoId=P13688-9; Sequence=VSP_040571, VSP_040572, VSP_040574; Name=10; IsoId=P13688-10; Sequence=VSP_040573, VSP_040575; Note=No experimental confirmation available.; Name=11; Synonyms=BGPd, CEACAM1-3S; IsoId=P13688-11; Sequence=VSP_010938, VSP_040572, VSP_040574; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000250|UniProtKB:P16573}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P16573}. Lateral cell membrane {ECO:0000250|UniProtKB:P16573}. Apical cell membrane {ECO:0000250|UniProtKB:P16573}. Basal cell membrane {ECO:0000250|UniProtKB:P16573}. Cell junction {ECO:0000269|PubMed:16291724}. Cell junction, adherens junction {ECO:0000250|UniProtKB:P16573}. Note=Canalicular domain of hepatocyte plasma membranes. Found as a mixture of monomer, dimer and oligomer in the plasma membrane. Occurs predominantly as cis-dimers and/or small cis-oligomers in the cell junction regions. Found as dimer in the solution. Predominantly localized to the lateral cell membranes. {ECO:0000250|UniProtKB:P16573}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:2025273}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000269|PubMed:2025273}.; SUBCELLULAR LOCATION: Isoform 4: Secreted {ECO:0000269|PubMed:2025273}.; SUBCELLULAR LOCATION: Isoform 5: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 6: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 7: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 8: Cell membrane {ECO:0000269|PubMed:14522961}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P16573}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000269|PubMed:14522961}. Lateral cell membrane {ECO:0000250|UniProtKB:P16573}. Apical cell membrane {ECO:0000250|UniProtKB:P16573}. Basal cell membrane {ECO:0000250|UniProtKB:P16573}. Cell junction {ECO:0000269|PubMed:8018919}. Cell junction, adherens junction {ECO:0000250|UniProtKB:P16573}. Note=Predominantly localized to the lateral cell membranes. Found as a mixture of monomer, dimer and oligomer in the plasma membrane. Occurs predominantly as cis-dimers and/or small cis-oligomers in the cell junction regions (By similarity). Co-localizes with ANXA2 in secretory vesicles and with S100A10/p11 at the plasma membrane (PubMed:14522961). {ECO:0000250|UniProtKB:P16573, ECO:0000269|PubMed:14522961}.; SUBCELLULAR LOCATION: Cell projection, microvillus membrane {ECO:0000250|UniProtKB:P31809}; Single-pass type I membrane protein {ECO:0000305}. Apical cell membrane {ECO:0000269|PubMed:10436421}; Single-pass type I membrane protein {ECO:0000305}. Note=Localized to the apical glycocalyx surface (PubMed:10436421). Colocalizes with CEACAM20 at the apical brush border of intestinal cells. {ECO:0000250|UniProtKB:P31809, ECO:0000269|PubMed:10436421}.


uniprotID: P49715
geneSymbol: CEBPA
reactome: R-HSA-381340;
name: CCAAT/enhancer-binding protein alpha (C/EBP alpha)
length: 358
go: ENSG00000245848;
snps: rs28931590
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; kinase binding [GO:0019900]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase I regulatory region DNA binding [GO:0001013]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; brown fat cell differentiation [GO:0050873]; cell maturation [GO:0048469]; cellular response to lithium ion [GO:0071285]; cellular response to organic cyclic compound [GO:0071407]; cellular response to tumor necrosis factor [GO:0071356]; cholesterol metabolic process [GO:0008203]; cytokine-mediated signaling pathway [GO:0019221]; embryonic placenta development [GO:0001892]; fat cell differentiation [GO:0045444]; generation of precursor metabolites and energy [GO:0006091]; glucose homeostasis [GO:0042593]; granulocyte differentiation [GO:0030851]; inner ear development [GO:0048839]; lipid homeostasis [GO:0055088]; liver development [GO:0001889]; lung development [GO:0030324]; macrophage differentiation [GO:0030225]; mitochondrion organization [GO:0007005]; myeloid cell differentiation [GO:0030099]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling pathway [GO:0007219]; positive regulation of DNA-templated transcription, initiation [GO:2000144]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of inflammatory response [GO:0050729]; positive regulation of macrophage activation [GO:0043032]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription by RNA polymerase III [GO:0045945]; transcription by RNA polymerase I [GO:0006360]; transcription by RNA polymerase II [GO:0006366]; transcription, DNA-templated [GO:0006351]; urea cycle [GO:0000050]; viral process [GO:0016032]; white fat cell differentiation [GO:0050872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=4;  Name=1; IsoId=P49715-1; Sequence=Displayed; Name=2; Synonyms=C/EBPalpha-p42 {ECO:0000303|PubMed:11242107}; IsoId=P49715-2; Sequence=VSP_057548; Name=3; Synonyms=C/EBPalpha-p30 {ECO:0000303|PubMed:11242107}; IsoId=P49715-3; Sequence=VSP_057547; Name=4; Synonyms=extended-C/EBPalpha {ECO:0000303|PubMed:20075868}; IsoId=P49715-4; Sequence=VSP_057607; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11242107}.; SUBCELLULAR LOCATION: Isoform 4: Nucleus, nucleolus {ECO:0000269|PubMed:20075868}.


uniprotID: P09093
geneSymbol: CELA3A
length: 270
go: ENSG00000142789;
snps: rs7531336 rs7533776 rs7519660 rs3820285
name:
Chymotrypsin-like elastase family member 3A (EC 3.4.21.70) (Elastase IIIA) (Elastase-3A) (Protease E)

sequence:

opentargets:
extracellular space [GO:0005615]; serine-type endopeptidase activity [GO:0004252]; proteolysis [GO:0006508]


uniprotID: Q92879
geneSymbol: CELF1
pdb: 2CPZ;2DHS;2RQ4;2RQC;3NMR;3NNA;3NNC;3NNH;
length: 486
go: ENSG00000149187;
name:
CUGBP Elav-like family member 1 (CELF-1) (50 kDa nuclear polyadenylated RNA-binding protein) (Bruno-like protein 2) (CUG triplet repeat RNA-binding protein 1) (CUG-BP1) (CUG-BP- and ETR-3-like factor 1) (Deadenylation factor CUG-BP) (Embryo deadenylation element-binding protein homolog) (EDEN-BP homolog) (RNA-binding protein BRUNOL-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; BRE binding [GO:0042835]; mRNA binding [GO:0003729]; pre-mRNA binding [GO:0036002]; RNA binding [GO:0003723]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; embryo development ending in birth or egg hatching [GO:0009792]; germ cell development [GO:0007281]; mRNA processing [GO:0006397]; mRNA splice site selection [GO:0006376]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of RNA splicing [GO:0043484]; RNA interference [GO:0016246]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=LYLQ; IsoId=Q92879-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; IsoId=Q92879-2; Sequence=VSP_005784; Name=3; Synonyms=A; IsoId=Q92879-3; Sequence=VSP_005784, VSP_005785; Name=4; IsoId=Q92879-4; Sequence=VSP_026787, VSP_026788; Name=5; IsoId=Q92879-5; Sequence=VSP_045043, VSP_026788; Note=No experimental confirmation available.; Name=6; IsoId=Q92879-6; Sequence=VSP_026788; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8948631}. Cytoplasm {ECO:0000269|PubMed:8948631}. Note=RNA-binding activity is detected in both nuclear and cytoplasmic compartments.


uniprotID: Q8N6W0
geneSymbol: CELF5
pdb: 2DNH;
length: 485
go: ENSG00000161082;
snps: rs17854481
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
name:
CUGBP Elav-like family member 5 (CELF-5) (Bruno-like protein 5) (CUG-BP- and ETR-3-like factor 5) (RNA-binding protein BRUNOL-5)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA binding [GO:0003729]; pre-mRNA binding [GO:0036002]; RNA binding [GO:0003723]; mRNA splice site selection [GO:0006376]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N6W0-1; Sequence=Displayed; Name=2; IsoId=Q8N6W0-2; Sequence=VSP_026844, VSP_026845, VSP_026846; 


uniprotID: B2RD01
geneSymbol: CENPBD1
name: CENPB DNA-binding domain-containing protein 1
length: 187
go: ENSG00000177946;
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]
sequence:
MPGERPTDATVIPSAKRERKAITLDLKLEVLRRFEAGEKLSQIAKALDLAISTVATIRDSKEKIKASSQIATPLRASRLTRHRSAVMESMEQLLSLWLEDQSQPNATLSAAIVQEKAEFDDLQREHGEGSQTERFHASQGWLVRFKECHCLPHFKMNSAAPSNKDMYTEMLKSIIEEGEYTPQVSLT

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00320, ECO:0000255|PROSITE-ProRule:PRU00583}.


uniprotID: P49450
geneSymbol: CENPA
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
pdb: 3AN2;3NQJ;3NQU;3R45;3WTP;5CVD;6BUZ;6C0W;
name: Histone H3-like centromeric protein A (Centromere autoantigen A) (Centromere protein A) (CENP-A)
length: 140
go: ENSG00000115163;
sequence:
MGPRRRSRKPEAPRRRSPSPTPTPGPSRRGPSLGASSHQHSRRRQGWLKEIRKLQKSTHLLIRKLPFSRLAREICVKFTRGVDFNWQAQALLALQEAAEAFLVHLFEDAYLLTLHAGRVTLFPKDVQLARRIRGLEEGLG

opentargets:
chromosome, centromeric region [GO:0000775]; condensed chromosome inner kinetochore [GO:0000939]; condensed nuclear chromosome kinetochore [GO:0000778]; condensed nuclear chromosome, centromeric region [GO:0000780]; cytosol [GO:0005829]; nuclear nucleosome [GO:0000788]; nuclear pericentric heterochromatin [GO:0031618]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; nucleosomal DNA binding [GO:0031492]; protein heterodimerization activity [GO:0046982]; CENP-A containing nucleosome assembly [GO:0034080]; establishment of mitotic spindle orientation [GO:0000132]; kinetochore assembly [GO:0051382]; mitotic cytokinesis [GO:0000281]; nucleosome assembly [GO:0006334]; protein localization to chromosome, centromeric region [GO:0071459]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49450-1; Sequence=Displayed; Name=2; IsoId=P49450-2; Sequence=VSP_020430; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14667408, ECO:0000269|PubMed:25556658, ECO:0000269|PubMed:9024683}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:18072184, ECO:0000269|PubMed:19114591, ECO:0000269|PubMed:23818633}. Chromosome, centromere {ECO:0000269|PubMed:11756469, ECO:0000269|PubMed:15282608, ECO:0000269|PubMed:15475964, ECO:0000269|PubMed:15702419, ECO:0000269|PubMed:17651496, ECO:0000269|PubMed:18072184, ECO:0000269|PubMed:20739937, ECO:0000269|PubMed:21743476, ECO:0000269|PubMed:25556658, ECO:0000269|PubMed:27499292, ECO:0000269|PubMed:7962047, ECO:0000269|PubMed:9024683}. Note=Localizes exclusively in the kinetochore domain of centromeres. Occupies a compact domain at the inner kinetochore plate stretching across 2 thirds of the length of the constriction but encompassing only one third of the constriction width and height (PubMed:19114591). Phosphorylation at Ser-68 during early mitosis abolishes association with chromatin and centromeres and results in dispersed nuclear location (PubMed:25556658). {ECO:0000269|PubMed:19114591, ECO:0000269|PubMed:25556658}.


uniprotID: Q9BYV8
geneSymbol: CEP41
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 41 kDa (Cep41) (Testis-specific gene A14 protein)
length: 373
go: ENSG00000106477;
snps: rs368178632 rs140259402 rs143303575 rs113941736 rs371812716
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; cytosol [GO:0005829]; membrane [GO:0016020]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; G2/M transition of mitotic cell cycle [GO:0000086]; protein polyglutamylation [GO:0018095]; protein transport [GO:0015031]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=L-type; IsoId=Q9BYV8-1; Sequence=Displayed; Name=2; IsoId=Q9BYV8-2; Sequence=VSP_012248; Name=3; IsoId=Q9BYV8-3; Sequence=VSP_012245; Name=4; Synonyms=S-type; IsoId=Q9BYV8-4; Sequence=VSP_012246, VSP_012247; Name=5; IsoId=Q9BYV8-5; Sequence=VSP_042579, VSP_012248; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes mainly to the cilium basal body and in primary cilia.


uniprotID: Q86XR8
geneSymbol: CEP57
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
pdb: 4L0R;
length: 500
go: ENSG00000166037;
snps: rs644799
name:
Centrosomal protein of 57 kDa (Cep57) (FGF2-interacting protein) (Testis-specific protein 57) (Translokin)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; nucleus [GO:0005634]; fibroblast growth factor binding [GO:0017134]; gamma-tubulin binding [GO:0043015]; microtubule binding [GO:0008017]; protein homodimerization activity [GO:0042803]; ciliary basal body-plasma membrane docking [GO:0097711]; fibroblast growth factor receptor signaling pathway [GO:0008543]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule anchoring [GO:0034453]; protein homooligomerization [GO:0051260]; protein import into nucleus, translocation [GO:0000060]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86XR8-1; Sequence=Displayed; Name=2; IsoId=Q86XR8-2; Sequence=VSP_012262; Name=3; IsoId=Q86XR8-3; Sequence=VSP_012263, VSP_012264; Name=4; IsoId=Q86XR8-4; Sequence=VSP_037839, VSP_037840; Note=No experimental confirmation available.; Name=5; IsoId=Q86XR8-5; Sequence=VSP_037839; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}.


uniprotID: P0C671
geneSymbol: C6orf222
name: Uncharacterized protein C6orf222
length: 652
snps: rs743852
sequence:


uniprotID: Q8N319
geneSymbol: C6orf223
name: Uncharacterized protein C6orf223
length: 242
go: ENSG00000181577;
snps: rs2295333 rs60336135
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N319-3; Sequence=Displayed; Name=2; IsoId=Q8N319-4; Sequence=VSP_047241; Note=Gene prediction based on EST data.; 


uniprotID: Q5I0X4
geneSymbol: C6orf226
name: Uncharacterized protein C6orf226
length: 101
go: ENSG00000221821;
sequence:
MERPRSPQCSAPASASASVTLAQLLQLVQQGQELPGLEKRHIAAIHGEPTASRLPRRPKPWEAAALAESLPPPTLRIGTAPAEPGLVEAATAPSSWHTVGP


uniprotID: Q9Y6A4
geneSymbol: CFAP20
length: 193
go: ENSG00000070761;
name:
Cilia- and flagella-associated protein 20 (Basal body up-regulated protein 22) (Transcription factor IIB)

sequence:
MFKNTFQSGFLSILYSIGSKPLQIWDKKVRNGHIKRITDNDIQSLVLEIEGTNVSTTYITCPADPKKTLGIKLPFLVMIIKNLKKYFTFEVQVLDDKNVRRRFRASNYQSTTRVKPFICTMPMRLDDGWNQIQFNLLDFTRRAYGTNYIETLRVQIHANCRIRRVYFSDRLYSEDELPAEFKLYLPVQNKAKQ

opentargets:
centriole [GO:0005814]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; extracellular exosome [GO:0070062]; microtubule [GO:0005874]; nucleus [GO:0005634]; RNA binding [GO:0003723]; cilium assembly [GO:0060271]; multicellular organism development [GO:0007275]; positive regulation of cell motility [GO:2000147]; positive regulation of feeding behavior [GO:2000253]; protein polyglutamylation [GO:0018095]; regulation of cilium beat frequency involved in ciliary motility [GO:0060296]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium.


uniprotID: Q96G28
geneSymbol: CFAP36
name: Cilia- and flagella-associated protein 36 (Coiled-coil domain-containing protein 104)
length: 342
go: ENSG00000163001;
snps: rs34891804 rs1045910 rs1045920
sequence:

opentargets:
ciliary base [GO:0097546]; ciliary transition zone [GO:0035869]; cytoplasm [GO:0005737]; motile cilium [GO:0031514]; nucleus [GO:0005634]; protein N-terminus binding [GO:0047485]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96G28-1; Sequence=Displayed; Name=2; IsoId=Q96G28-2; Sequence=VSP_023338; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000303|PubMed:19680650}. Cytoplasm {ECO:0000303|PubMed:19680650}. Cell projection, cilium, flagellum {ECO:0000305}.


uniprotID: Q96MT7
geneSymbol: CFAP44
name: Cilia- and flagella-associated protein 44 (WD repeat-containing protein 52)
length: 1854
go: ENSG00000206530;
snps: rs59722850 rs16845107
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; motile cilium [GO:0031514]; cilium-dependent cell motility [GO:0060285]; sperm axoneme assembly [GO:0007288]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q96MT7-2; Sequence=Displayed; Name=1; IsoId=Q96MT7-1; Sequence=VSP_059893, VSP_059894; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A8J1V4}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q57WH1}.


uniprotID: Q9UEE9
geneSymbol: CFDP1
name: Craniofacial development protein 1 (Bucentaur)
length: 299
go: ENSG00000153774;
snps: rs16963331
location: SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}.
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cell adhesion [GO:0007155]; multicellular organism development [GO:0007275]; negative regulation of fibroblast apoptotic process [GO:2000270]; regulation of cell proliferation [GO:0042127]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UEE9-1; Sequence=Displayed; Name=2; IsoId=Q9UEE9-2; Sequence=VSP_016242; 


uniprotID: P48047
geneSymbol: ATP5PO
reactome: R-HSA-163210;R-HSA-8949613;
length: 213
go: ENSG00000241837;
snps: rs4842
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Mitochondrion inner membrane {ECO:0000250}.
name:
ATP synthase subunit O, mitochondrial (ATP synthase peripheral stalk subunit OSCP) (Oligomycin sensitivity conferral protein) (OSCP)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATPase activity [GO:0016887]; drug binding [GO:0008144]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; transmembrane transporter activity [GO:0022857]; transporter activity [GO:0005215]; ATP biosynthetic process [GO:0006754]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; proton transmembrane transport [GO:1902600]


uniprotID: Q96N11
geneSymbol: C7orf26
name: Uncharacterized protein C7orf26
length: 449
go: ENSG00000146576;
snps: rs35534502
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96N11-1; Sequence=Displayed; Name=2; IsoId=Q96N11-2; Sequence=VSP_007907, VSP_007908; 


uniprotID: Q8N884
geneSymbol: CGAS
reactome: R-HSA-1834941;
length: 522
go: ENSG00000164430;
snps: rs9352000 rs610913
pdb:
4KM5;4LEV;4LEW;4MKP;4O67;4O68;4O69;5V8H;5V8J;5V8N;5V8O;5VDO;5VDP;5VDQ;5VDR;5VDS;5VDT;5VDU;5VDV;5VDW;6CT9;6CTA;

name:
Cyclic GMP-AMP synthase (cGAMP synthase) (cGAS) (h-cGAS) (EC 2.7.7.86) (2'3'-cGAMP synthase) (Mab-21 domain-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; cyclic-GMP-AMP synthase activity [GO:0061501]; DNA binding [GO:0003677]; double-stranded DNA binding [GO:0003690]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]; activation of innate immune response [GO:0002218]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to exogenous dsRNA [GO:0071360]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; paracrine signaling [GO:0038001]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of cellular senescence [GO:2000774]; positive regulation of cGMP-mediated signaling [GO:0010753]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of type I interferon production [GO:0032481]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N884-1; Sequence=Displayed; Name=2; IsoId=Q8N884-2; Sequence=VSP_014388, VSP_014389; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23258413, ECO:0000269|PubMed:26048138}. Note=Upon transfection with dsDNA forms punctate structures that co-localize with DNA and Beclin-1 (BECN1) (PubMed:26048138). {ECO:0000269|PubMed:26048138}.; SUBCELLULAR LOCATION: Note=(Microbial infection) Upon infection with virulent M.tuberculosis forms aggregates with dsDNA, non-virulent bacteria (without the ESX-1 locus) do not form these aggregates (PubMed:26048138). {ECO:0000269|PubMed:26048138}.


uniprotID: Q9UP79
geneSymbol: ADAMTS8
reactome: R-HSA-1474228;R-HSA-5083635;R-HSA-5173214;
length: 889
go: ENSG00000134917;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 8 (ADAM-TS 8) (ADAM-TS8) (ADAMTS-8) (EC 3.4.24.-) (METH-2) (METH-8)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; heparin binding [GO:0008201]; integrin binding [GO:0005178]; low-affinity phosphate transmembrane transporter activity [GO:0009673]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; negative regulation of cell proliferation [GO:0008285]


uniprotID: Q8WXS8
geneSymbol: ADAMTS14
reactome: R-HSA-1650814;R-HSA-5083635;R-HSA-5173214;
length: 1223
go: ENSG00000138316;
snps: rs34022601 rs10823607 rs12774070 rs10999516 rs4747096
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 14 (ADAM-TS 14) (ADAM-TS14) (ADAMTS-14) (EC 3.4.24.-)

sequence:

opentargets:
extracellular region [GO:0005576]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; collagen catabolic process [GO:0030574]; collagen fibril organization [GO:0030199]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Name=A; IsoId=Q8WXS8-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=B; IsoId=Q8WXS8-2; Sequence=VSP_006958; Note=Produced by alternative promoter usage.; Name=C; IsoId=Q8WXS8-3; Sequence=VSP_006958, VSP_005501; Note=Produced by alternative splicing of isoform B.; Name=D; IsoId=Q8WXS8-4; Sequence=VSP_005501; Note=Produced by alternative splicing of isoform A.; 


uniprotID: Q8TE58
geneSymbol: ADAMTS15
reactome: R-HSA-5083635;R-HSA-5173214;
length: 950
go: ENSG00000166106;
snps: rs11222114 rs776537988
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 15 (ADAM-TS 15) (ADAM-TS15) (ADAMTS-15) (EC 3.4.24.-)

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular space [GO:0005615]; extracellular matrix binding [GO:0050840]; heparin binding [GO:0008201]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]


uniprotID: Q8TE57
geneSymbol: ADAMTS16
reactome: R-HSA-1474228;R-HSA-5083635;R-HSA-5173214;
length: 1224
go: ENSG00000145536;
snps: rs1863968 rs16875054 rs9313105 rs16875122 rs35394775
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 16 (ADAM-TS 16) (ADAM-TS16) (ADAMTS-16) (EC 3.4.24.-)

sequence:

opentargets:
extracellular region [GO:0005576]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; branching involved in ureteric bud morphogenesis [GO:0001658]; male gamete generation [GO:0048232]; regulation of cilium assembly [GO:1902017]; regulation of systemic arterial blood pressure [GO:0003073]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TE57-1; Sequence=Displayed; Name=2; IsoId=Q8TE57-2; Sequence=VSP_007664, VSP_007665; 


uniprotID: Q8TE56
geneSymbol: ADAMTS17
reactome: R-HSA-5083635;R-HSA-5173214;
length: 1095
go: ENSG00000140470;
snps: rs7496668 rs28567966 rs2573652
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 17 (ADAM-TS 17) (ADAM-TS17) (ADAMTS-17) (EC 3.4.24.-)

sequence:

opentargets:
extracellular region [GO:0005576]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; nucleic acid binding [GO:0003676]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms may exist.; Name=1; Synonyms=a; IsoId=Q8TE56-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q8TE56-2; Sequence=VSP_040331, VSP_040332, VSP_040333; Note=No experimental confirmation available.; 


uniprotID: A6NKQ9
geneSymbol: CGB1
name: Choriogonadotropin subunit beta variant 1
length: 187
go: ENSG00000267631;
snps: rs35371968
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MSTFPVLAEDIPLRERHVKGRVDPHFRAPKMEMFQRLLLLLLLSMGGTWASKEPLRPRCRPINATLAVEKEGCPVCITVNTTICAGYCPTMTRVLQGVLPALPQVVCNYRDVRFESIRLPGCPRGVNPVVSYAVALSCQCALCRRSTTDCGGPKDHPLTCDDPRFQDSSSSKAPPPSLPSPSRLPGP

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; hormone-mediated signaling pathway [GO:0009755]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NKQ9-1; Sequence=Displayed; Name=2; IsoId=A6NKQ9-2; Sequence=VSP_034490, VSP_034491; 


uniprotID: P59510
geneSymbol: ADAMTS20
reactome: R-HSA-5083635;R-HSA-5173214;
length: 1910
go: ENSG00000173157;
snps: rs7302446 rs7297737 rs7310011
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 20 (ADAM-TS 20) (ADAM-TS20) (ADAMTS-20) (EC 3.4.24.-)

sequence:

opentargets:
extracellular space [GO:0005615]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; extracellular matrix organization [GO:0030198]; negative regulation of apoptotic process [GO:0043066]; positive regulation of melanocyte differentiation [GO:0045636]; positive regulation of signal transduction [GO:0009967]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P59510-1; Sequence=Displayed; Name=2; IsoId=P59510-2; Sequence=VSP_007106, VSP_007107, VSP_007108; Name=3; IsoId=P59510-3; Sequence=VSP_047084; 


uniprotID: O15072
geneSymbol: ADAMTS3
reactome: R-HSA-1650814;R-HSA-5083635;R-HSA-5173214;
length: 1205
go: ENSG00000156140;
snps: rs788908 rs35864003
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 3 (ADAM-TS 3) (ADAM-TS3) (ADAMTS-3) (EC 3.4.24.-) (Procollagen II N-proteinase) (PC II-NP) (Procollagen II amino propeptide-processing enzyme)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; endopeptidase activity [GO:0004175]; heparin binding [GO:0008201]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; collagen biosynthetic process [GO:0032964]; collagen catabolic process [GO:0030574]; collagen fibril organization [GO:0030199]; positive regulation of vascular endothelial growth factor signaling pathway [GO:1900748]; protein processing [GO:0016485]; supramolecular fiber organization [GO:0097435]; vascular endothelial growth factor production [GO:0010573]


uniprotID: P17735
geneSymbol: TAT
reactome: R-HSA-71182;
pdb: 3DYD;
name: Tyrosine aminotransferase (TAT) (EC 2.6.1.5) (L-tyrosine:2-oxoglutarate aminotransferase)
length: 454
go: ENSG00000198650;
drug: DB00142;DB00120;DB00135;DB00114;
snps: rs16973344 rs587776511
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; amino acid binding [GO:0016597]; L-tyrosine:2-oxoglutarate aminotransferase activity [GO:0004838]; pyridoxal phosphate binding [GO:0030170]; 2-oxoglutarate metabolic process [GO:0006103]; biosynthetic process [GO:0009058]; glutamate metabolic process [GO:0006536]; L-phenylalanine catabolic process [GO:0006559]; response to glucocorticoid [GO:0051384]; response to mercury ion [GO:0046689]; response to oxidative stress [GO:0006979]; tyrosine catabolic process [GO:0006572]


uniprotID: P0C7T5
geneSymbol: ATXN1L
name: Ataxin-1-like (Brother of ataxin-1) (Brother of ATXN1)
length: 689
go: ENSG00000224470;
snps: rs7194407
sequence:

opentargets:
dendrite [GO:0030425]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; brain development [GO:0007420]; extracellular matrix organization [GO:0030198]; learning [GO:0007612]; lung alveolus development [GO:0048286]; memory [GO:0007613]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of hematopoietic stem cell proliferation [GO:1902035]; social behavior [GO:0035176]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16121196}. Cell projection, dendrite {ECO:0000269|PubMed:16121196}. Note=Forms nuclear foci. Colocalizes with NCOR2 and HDAC3. Distributed beyond the nucleus into the cell body and dendrites in Purkinje cells and in inferior olive cells.


uniprotID: P54253
geneSymbol: ATXN1
pdb: 1OA8;2M41;4APT;4AQP;4J2J;4J2L;
name: Ataxin-1 (Spinocerebellar ataxia type 1 protein)
length: 815
go: ENSG00000124788;
snps: rs11969612 rs16885
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear inclusion body [GO:0042405]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; poly(G) binding [GO:0034046]; poly(U) RNA binding [GO:0008266]; protein C-terminus binding [GO:0008022]; protein self-association [GO:0043621]; brain development [GO:0007420]; learning [GO:0007612]; memory [GO:0007613]; negative regulation of transcription, DNA-templated [GO:0045892]; nuclear export [GO:0051168]; RNA processing [GO:0006396]; social behavior [GO:0035176]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=1;  Comment=At least 2 isoforms are produced.; Name=1; IsoId=P54253-1; Sequence=Displayed; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7647801}. Nucleus {ECO:0000269|PubMed:12093161, ECO:0000269|PubMed:7647801}. Note=Colocalizes with USP7 in the nucleus. {ECO:0000269|PubMed:12093161}.


uniprotID: Q8WWM7
geneSymbol: ATXN2L
name: Ataxin-2-like protein (Ataxin-2 domain protein) (Ataxin-2-related protein)
length: 1075
go: ENSG00000168488;
sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear speck [GO:0016607]; cadherin binding [GO:0045296]; RNA binding [GO:0003723]; regulation of cytoplasmic mRNA processing body assembly [GO:0010603]; stress granule assembly [GO:0034063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=A2D-A; IsoId=Q8WWM7-1; Sequence=Displayed; Name=2; Synonyms=A2D-B; IsoId=Q8WWM7-2; Sequence=VSP_011593; Name=3; Synonyms=A2D-C; IsoId=Q8WWM7-3; Sequence=VSP_011594; Name=4; Synonyms=A2D-D; IsoId=Q8WWM7-4; Sequence=VSP_011591; Name=5; Synonyms=A2D-E; IsoId=Q8WWM7-5; Sequence=VSP_011592; Name=6; IsoId=Q8WWM7-6; Sequence=VSP_011589, VSP_011590; Note=Due to intron retention. No experimental confirmation available.; Name=7; IsoId=Q8WWM7-7; Sequence=VSP_011587, VSP_011588; Note=No experimental confirmation available.; Name=8; IsoId=Q8WWM7-8; Sequence=VSP_044243; Name=9; IsoId=Q8WWM7-9; Sequence=VSP_047122; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11784712}; Peripheral membrane protein {ECO:0000269|PubMed:11784712}. Cytoplasm {ECO:0000269|PubMed:23209657}. Nucleus speckle {ECO:0000269|PubMed:23209657}. Cytoplasmic granule {ECO:0000269|PubMed:23209657}. Note=Predominantly cytoplasmic but is also detected in nuclear speckles (PubMed:23209657). Component of cytoplasmic stress granules (PubMed:23209657). Inhibition of methylation alters nuclear localization (PubMed:25748791). Methylation does not seem to be required for localization to stress granules under stress conditions (PubMed:25748791). {ECO:0000269|PubMed:23209657, ECO:0000269|PubMed:25748791}.


uniprotID: Q9H3M9
geneSymbol: ATXN3L
reactome: R-HSA-5689877;
pdb: 3O65;
name: Ataxin-3-like protein (EC 3.4.19.12) (Machado-Joseph disease protein 1-like)
length: 355
go: ENSG00000123594;
snps: rs16999010 rs4830842
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; protein deubiquitination [GO:0016579]


uniprotID: Q156A1
geneSymbol: ATXN8
name: Ataxin-8 (Protein 1C2)
sequence: MQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQ
length: 80
opentargets: nucleus [GO:0005634]
location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16804541}. Note=Present in SCA8-specific 1C2-positive intranuclear inclusions.


uniprotID: O75061
geneSymbol: DNAJC6
reactome: R-HSA-432720;R-HSA-432722;R-HSA-8856828;
name: Putative tyrosine-protein phosphatase auxilin (EC 3.1.3.48) (DnaJ homolog subfamily C member 6)
length: 913
go: ENSG00000116675;
snps: rs61757223 rs145329294 rs770127313 rs4915691 rs879255630
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; postsynaptic density [GO:0014069]; presynapse [GO:0098793]; vesicle [GO:0031982]; clathrin binding [GO:0030276]; protein tyrosine phosphatase activity [GO:0004725]; SH3 domain binding [GO:0017124]; clathrin coat disassembly [GO:0072318]; clathrin-dependent endocytosis [GO:0072583]; membrane organization [GO:0061024]; receptor-mediated endocytosis [GO:0006898]; regulation of clathrin-dependent endocytosis [GO:2000369]; synaptic vesicle uncoating [GO:0016191]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75061-1; Sequence=Displayed; Name=2; IsoId=O75061-2; Sequence=VSP_019580; Name=3; IsoId=O75061-3; Sequence=VSP_019579, VSP_019581; Name=4; IsoId=O75061-4; Sequence=VSP_019579; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; 


uniprotID: P27037
geneSymbol: ACVR2A
reactome: R-HSA-1181150;R-HSA-1433617;R-HSA-1502540;R-HSA-201451;
pdb: 3Q4T;3SOC;4ASX;5NH3;
name: Activin receptor type-2A (EC 2.7.11.30) (Activin receptor type IIA) (ACTR-IIA) (ACTRIIA)
length: 513
go: ENSG00000121989;
snps: rs34917571 rs764255410
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
activin receptor complex [GO:0048179]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; inhibin-betaglycan-ActRII complex [GO:0034673]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; activin binding [GO:0048185]; ATP binding [GO:0005524]; BMP receptor activity [GO:0098821]; coreceptor activity [GO:0015026]; growth factor binding [GO:0019838]; inhibin binding [GO:0034711]; metal ion binding [GO:0046872]; PDZ domain binding [GO:0030165]; protein self-association [GO:0043621]; protein serine/threonine kinase activity [GO:0004674]; SMAD binding [GO:0046332]; transforming growth factor beta receptor activity, type II [GO:0005026]; transforming growth factor beta-activated receptor activity [GO:0005024]; transmembrane receptor protein serine/threonine kinase activity [GO:0004675]; type I transforming growth factor beta receptor binding [GO:0034713]; activin receptor signaling pathway [GO:0032924]; anterior/posterior pattern specification [GO:0009952]; BMP signaling pathway [GO:0030509]; cellular response to BMP stimulus [GO:0071773]; determination of left/right symmetry [GO:0007368]; embryonic skeletal system development [GO:0048706]; gastrulation with mouth forming second [GO:0001702]; mesoderm development [GO:0007498]; pattern specification process [GO:0007389]; penile erection [GO:0043084]; positive regulation of activin receptor signaling pathway [GO:0032927]; positive regulation of bone mineralization [GO:0030501]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of BMP signaling pathway [GO:0030510]; regulation of nitric-oxide synthase activity [GO:0050999]; Sertoli cell proliferation [GO:0060011]; sperm ejaculation [GO:0042713]; spermatogenesis [GO:0007283]; transforming growth factor beta receptor signaling pathway [GO:0007179]; transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0007178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P27037-1; Sequence=Displayed; Name=2; IsoId=P27037-2; Sequence=VSP_054689; Note=No experimental confirmation available.; 


uniprotID: Q9NQS1
geneSymbol: AVEN
name: Cell death regulator Aven
length: 362
go: ENSG00000169857;
snps: rs2241647
sequence:

opentargets:
endomembrane system [GO:0012505]; intracellular [GO:0005622]; membrane [GO:0016020]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]

location:
SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Note=Associated with intracellular membranes.


uniprotID: Q4VNC0
geneSymbol: ATP13A5
reactome: R-HSA-936837;
name: Probable cation-transporting ATPase 13A5 (EC 3.6.3.-) (P5-ATPase isoform 5)
length: 1218
go: ENSG00000187527;
snps: rs12637558 rs6797429 rs2280268 rs6787746 rs2271791 rs7428010
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; cation-transporting ATPase activity [GO:0019829]; metal ion binding [GO:0046872]; cellular calcium ion homeostasis [GO:0006874]; ion transmembrane transport [GO:0034220]


uniprotID: P54259
geneSymbol: ATN1
reactome: R-HSA-8943724;
name: Atrophin-1 (Dentatorubral-pallidoluysian atrophy protein)
length: 1190
go: ENSG00000111676;
snps: rs1058045
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; DNA binding [GO:0003677]; protein domain specific binding [GO:0019904]; RNA polymerase II transcription factor binding [GO:0001085]; transcription corepressor activity [GO:0003714]; central nervous system development [GO:0007417]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron apoptotic process [GO:0051402]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, perinuclear region. Cell junction {ECO:0000250}. Note=Shuttles between nucleus and cytoplasm. Colocalizes with FAT1 in the perinuclear area, at cell-cell junctions and leading edges of cells (By similarity). Colocalizes with MTG8 in discrete nuclear dots. Proteolytic fragment F1 appears to remain in nucleus. Fragment F2 is exported into the cytoplasm. Fragment F2 from mutant sequences with longer poly-Gln (polyQ) tracts are additionally located to the cytoplasmic membrane and to certain organelles. {ECO:0000250}.


uniprotID: O75947
geneSymbol: ATP5PD
reactome: R-HSA-163210;R-HSA-8949613;
name: ATP synthase subunit d, mitochondrial (ATPase subunit d) (ATP synthase peripheral stalk subunit d)
length: 161
go: ENSG00000167863;
location: SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
sequence:
MAGRKLALKTIDWVAFAEIIPQNQKAIASSLKSWNETLTSRLAALPENPPAIDWAYYKANVAKAGLVDDFEKKFNALKVPVPEDKYTAQVDAEEKEDVKSCAEWVSLSKARIVEYEKEMEKMKNLIPFDQMTIEDLNEAFPETKLDKKKYPYWPHQPIENL

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase, stator stalk [GO:0000274]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; proton transmembrane transporter activity [GO:0015078]; transmembrane transporter activity [GO:0022857]; ATP biosynthetic process [GO:0006754]; ATP hydrolysis coupled cation transmembrane transport [GO:0099132]; ATP synthesis coupled proton transport [GO:0015986]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75947-1; Sequence=Displayed; Name=2; IsoId=O75947-2; Sequence=VSP_000436; 


uniprotID: O00244
geneSymbol: ATOX1
reactome: R-HSA-3299685;R-HSA-6803544;
pdb: 1FE0;1FE4;1FEE;1TL4;1TL5;2K1R;2LQ9;3CJK;3IWL;3IWX;4QOT;4YDX;4YEA;5F0W;5T7L;
name: Copper transport protein ATOX1 (Metal transport protein ATX1)
sequence: MPKHEFSVDMTCGGCAEAVSRVLNKLGGVKYDIDLPNKKVCIESEHSMDTLLATLKKTGKTVSYLGLE
length: 68
go: ENSG00000177556;
drug: DB03127;DB02772;
opentargets:
cytosol [GO:0005829]; ATPase binding [GO:0051117]; copper chaperone activity [GO:0016531]; copper ion binding [GO:0005507]; copper ion transmembrane transporter activity [GO:0005375]; copper-dependent protein binding [GO:0032767]; metallochaperone activity [GO:0016530]; cellular copper ion homeostasis [GO:0006878]; copper ion transport [GO:0006825]; protein maturation by copper ion transfer [GO:0015680]; response to oxidative stress [GO:0006979]


uniprotID: Q9Y6F7
geneSymbol: CDY2A; CDY2B
pdb: 2FW2;
name: Testis-specific chromodomain protein Y 2 (EC 2.3.1.48)
length: 541
go: ENSG00000129873;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; histone acetyltransferase activity [GO:0004402]; transcription corepressor activity [GO:0003714]; spermatogenesis [GO:0007283]


uniprotID: Q8N8U2
geneSymbol: CDYL2
pdb: 2MJ8;4HAE;5JJZ;
name: Chromodomain Y-like protein 2 (CDY-like 2)
length: 506
go: ENSG00000166446;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; catalytic activity [GO:0003824]; methylated histone binding [GO:0035064]; transcription corepressor activity [GO:0003714]


uniprotID: Q49AR2
geneSymbol: C5orf22
name: UPF0489 protein C5orf22
length: 442
go: ENSG00000082213;
snps: rs17410000 rs16901277
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q49AR2-1; Sequence=Displayed; Name=2; IsoId=Q49AR2-2; Sequence=VSP_028183; Note=No experimental confirmation available.; Name=3; IsoId=Q49AR2-3; Sequence=VSP_028182, VSP_028184; Note=No experimental confirmation available.; 


uniprotID: Q8IYX8
geneSymbol: CEP57L1
length: 460
go: ENSG00000183137;
snps: rs351733
name:
Centrosomal protein CEP57L1 (Centrosomal protein 57kDa-like protein 1) (Centrosomal protein of 57 kDa-related protein) (Cep57R) (Cep57-related protein)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; microtubule [GO:0005874]; gamma-tubulin binding [GO:0043015]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYX8-1; Sequence=Displayed; Name=2; IsoId=Q8IYX8-2; Sequence=VSP_055660, VSP_055661; Note=No experimental confirmation available. Gene prediction based on partial data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}.


uniprotID: Q5SZL2
geneSymbol: CEP85L
name: Centrosomal protein of 85 kDa-like (Serologically defined breast cancer antigen NY-BR-15)
length: 805
go: ENSG00000111860;
opentargets: centrosome [GO:0005813]; cytoplasm [GO:0005737]
snps: rs3734381 rs9489444 rs3734382 rs9489410 rs7743702
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q5SZL2-1; Sequence=Displayed; Name=2; IsoId=Q5SZL2-2; Sequence=VSP_027338, VSP_027339, VSP_027340; Note=No experimental confirmation available.; Name=3; IsoId=Q5SZL2-3; Sequence=VSP_027337, VSP_027339, VSP_027340; Name=4; IsoId=Q5SZL2-4; Sequence=VSP_027338; Name=5; IsoId=Q5SZL2-5; Sequence=VSP_027339, VSP_027340; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000305|PubMed:21399614}. Note=Subcellular experiments using a GFP-tagged system produced a weak signal, rendering it difficult to confirm centrosome association.


uniprotID: Q8N7Q2
geneSymbol: CELF2-AS1
name: Putative uncharacterized protein CELF2-AS1 (CELF2 antisense RNA 1) (CELF2 antisense gene protein 1)
length: 184
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MFCLLHLCFYLANFASSIKRTHAVNGCCGLQMIALWAQSSGNADARVEEILAGEERRLAALLGSQGMRFWVCLAACRAMWGLAARRGRAEDSSSSPVDASKFPWRGGQHRTTMMPCLLRVGVFRPCHVRPTGDPSCDVQPPRLGFSRVPDTQVAFYGSGHWDPTPFSVHSCFFNFQVRKIIFLL


uniprotID: A8MTT3
geneSymbol: CEBPZOS
name: Protein CEBPZOS (CEBPZ antisense RNA 1) (CEBPZ opposite strand)
sequence: MARTLEPLAKKIFKGVLVAELVGVFGAYFLFSKMHTSQDFRQTMSKKYPFILEVYYKSTEKSGMYGIRELDQKTWLNSKN
length: 80
go: ENSG00000218739;
opentargets: integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]
location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:25002142}; Single-pass membrane protein {ECO:0000255}.


uniprotID: P53567
geneSymbol: CEBPG
name: CCAAT/enhancer-binding protein gamma (C/EBP gamma)
length: 150
go: ENSG00000153879;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P53568}.
sequence:
MSKISQQNSTPGVNGISVIHTQAHASGLQQVPQLVPAGPGGGGKAVAPSKQSKKSSPMDRNSDEYRQRRERNNMAVKKSRLKSKQKAQDTLQRVNQLKEENERLEAKIKLLTKELSVLKDLFLEHAHNLADNVQSISTENTTADGDNAGQ

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; B cell differentiation [GO:0030183]; enucleate erythrocyte differentiation [GO:0043353]; immune response [GO:0006955]; liver development [GO:0001889]; mRNA metabolic process [GO:0016071]; natural killer cell mediated cytotoxicity [GO:0042267]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; positive regulation of DNA binding [GO:0043388]; positive regulation of DNA repair [GO:0045739]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of interferon-gamma biosynthetic process [GO:0045078]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q711Q0
geneSymbol: CEFIP
name: Cardiac-enriched FHL2-interacting protein
length: 1435
go: ENSG00000177354;
opentargets: Z disc [GO:0030018]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:M0RD54}.
sequence:

snps:
rs4838383 rs56206226 rs45554335 rs61453891 rs10857469 rs7921186 rs11101093 rs12217617 rs10857470 rs11101094 rs11101095 rs10857472 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q711Q0-1; Sequence=Displayed; Name=3; IsoId=Q711Q0-3; Sequence=VSP_024267, VSP_024268; 


uniprotID: Q16739
geneSymbol: UGCG
reactome: R-HSA-1660662;
length: 394
go: ENSG00000148154;
drug: DB09039;DB05715;DB00419;
name:
Ceramide glucosyltransferase (EC 2.4.1.80) (GLCT-1) (Glucosylceramide synthase) (GCS) (UDP-glucose ceramide glucosyltransferase) (UDP-glucose:N-acylsphingosine D-glucosyltransferase)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; ceramide glucosyltransferase activity [GO:0008120]; dihydroceramide glucosyltransferase activity [GO:0102769]; epidermis development [GO:0008544]; glucosylceramide biosynthetic process [GO:0006679]; glycosphingolipid biosynthetic process [GO:0006688]; glycosphingolipid metabolic process [GO:0006687]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: P08861
geneSymbol: CELA3B
length: 270
go: ENSG00000219073;
snps: rs7528405
name:
Chymotrypsin-like elastase family member 3B (EC 3.4.21.70) (Elastase IIIB) (Elastase-3B) (Protease E)

sequence:

opentargets:
extracellular space [GO:0005615]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; proteolysis [GO:0006508]


uniprotID: Q5SZQ8
geneSymbol: CELF3
pdb: 2DNO;
length: 465
go: ENSG00000159409;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
name:
CUGBP Elav-like family member 3 (CELF-3) (Bruno-like protein 1) (CAG repeat protein 4) (CUG-BP- and ETR-3-like factor 3) (ELAV-type RNA-binding protein 1) (ETR-1) (Expanded repeat domain protein CAG/CTG 4) (RNA-binding protein BRUNOL-1) (Trinucleotide repeat-containing gene 4 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; 7SK snRNA binding [GO:0097322]; mRNA binding [GO:0003729]; pre-mRNA binding [GO:0036002]; RNA binding [GO:0003723]; flagellated sperm motility [GO:0030317]; mRNA splice site selection [GO:0006376]; ncRNA transcription [GO:0098781]; nuclear body organization [GO:0030575]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA splicing [GO:0008380]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5SZQ8-1; Sequence=Displayed; Name=2; IsoId=Q5SZQ8-2; Sequence=VSP_026825; Note=No experimental confirmation available.; Name=3; IsoId=Q5SZQ8-3; Sequence=VSP_026824; Name=4; IsoId=Q5SZQ8-4; Sequence=VSP_046642; Note=No experimental confirmation available.; 


uniprotID: Q96LK0
geneSymbol: CEP19
name: Centrosomal protein of 19 kDa (Cep19)
length: 163
sequence:
MMCTAKKCGIRFQPPAIILIYESEIKGKIRQRIMPVRNFSKFSDCTRAAEQLKNNPRHKSYLEQVSLRQLEKLFSFLRGYLSGQSLAETMEQIQRETTIDPEEDLNKLDDKELAKRKSIMDELFEKNQKKKDDPNFVYDIEVEFPQDDQLQSCGWDTESADEF

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; spindle pole [GO:0000922]; cilium assembly [GO:0060271]; microtubule anchoring at centrosome [GO:0034454]; vesicle targeting, trans-Golgi to periciliary membrane compartment [GO:0097712]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:21399614}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:24268657, ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}. Note=Associates with the mother centriole in early interphase. Localizes to spindle poles during mitosis, and to distinct foci oriented towards the midbody at telophase (PubMed:21399614). Localizes slightly apical to the subdistal appendage on the mother centriole, but below the distal appendage (PubMed:28625565, PubMed:28659385). {ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:28625565}.


uniprotID: Q9Y592
geneSymbol: CEP83
reactome: R-HSA-5620912;
length: 701
go: ENSG00000173588;
snps: rs2271979 rs587777487
name:
Centrosomal protein of 83 kDa (Cep83) (Coiled-coil domain-containing protein 41) (Renal carcinoma antigen NY-REN-58)

sequence:

opentargets:
centriole [GO:0005814]; ciliary transition fiber [GO:0097539]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; protein localization to centrosome [GO:0071539]; vesicle docking [GO:0048278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y592-1; Sequence=Displayed; Name=2; IsoId=Q9Y592-2; Sequence=VSP_037760, VSP_037761, VSP_037762; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23348840, ECO:0000269|PubMed:23530209}. Note=Localizes specifically to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Localizes to centrioles at all stages of the cell cycle, including mitosis.


uniprotID: Q8IW35
geneSymbol: CEP97
reactome: R-HSA-5620912;
name: Centrosomal protein of 97 kDa (Cep97) (Leucine-rich repeat and IQ domain-containing protein 2)
length: 865
go: ENSG00000182504;
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; protein-containing complex [GO:0032991]; calmodulin binding [GO:0005516]; ciliary basal body-plasma membrane docking [GO:0097711]; negative regulation of cilium assembly [GO:1902018]; regulation of mitotic spindle assembly [GO:1901673]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IW35-1; Sequence=Displayed; Name=2; IsoId=Q8IW35-2; Sequence=VSP_031155; Note=No experimental confirmation available. Sequence incomplete.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:17719545}.


uniprotID: A8K010
geneSymbol: LINC00473
name: Putative transcriptional regulator encoded by LINC00473
length: 186
opentargets: transcription, DNA-templated [GO:0006351]
sequence:
MELSAAAGRRRQAPWREFTGRHRTERSQERGSTPRKERSMGSRQPRKREREPRDCTPTCTNAASVSRSGARRAPGCAGRCITMKNCARAWRELSERACCFQAVPPSNMKQSWLIFLDTTLCSAWLLASSCPRLYAPLISFHCMCFNTVLLFPRLFGPTLSAKIQFNTDLSLRAIAWKCTKDTTTYC


uniprotID: Q5T699
geneSymbol: C6orf183
name: Putative uncharacterized protein C6orf183
length: 404
sequence:


uniprotID: Q96MT4
geneSymbol: LINC01600
name: Uncharacterized protein encoded by LINC01600
length: 127
snps: rs17135340 rs9503233
sequence:
MIYPLDLFRNIPWKQGKCFASLSPEGERAFDGMEPLCQPGARPALRGLQHASDCYRLLSPPGSGLVGTNPSVPAPSPHCGCCQAWSISSFTFTGPTPFKINSDQATPCHLRSPETIFRQREISNEAF


uniprotID: Q8TBY9
geneSymbol: WDR66
name: Cilia- and flagella-associated protein 251 (CFAP251) (WD repeat-containing protein 66)
length: 1149
go: ENSG00000158023;
opentargets: axoneme [GO:0005930]; motile cilium [GO:0031514]; cilium movement [GO:0003341]
snps: rs12824001 rs12824001 rs34768683 rs11043265
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8IRK7}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TBY9-1; Sequence=Displayed; Name=2; IsoId=Q8TBY9-2; Sequence=VSP_027167, VSP_027168; Note=No experimental confirmation available.; Name=3; IsoId=Q8TBY9-3; Sequence=VSP_027165, VSP_027166; Note=No experimental confirmation available.; 


uniprotID: P57076
geneSymbol: CFAP298
name: Cilia- and flagella-associated protein 298 (Protein kurly homolog)
length: 290
go: ENSG00000159079;
snps: rs753786167 rs140727644 rs540473945
sequence:

opentargets:
cilium [GO:0005929]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; nucleus [GO:0005634]; cilium assembly [GO:0060271]; regulation of cilium movement [GO:0003352]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:29601588}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:A0A1L8HCK2}. Note=Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization. {ECO:0000250|UniProtKB:Q5U3Z0}.


uniprotID: Q9BRQ4
geneSymbol: CFAP300
name: Cilia- and flagella-associated protein 300
length: 267
go: ENSG00000137691;
opentargets: cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; motile cilium [GO:0031514]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BRQ4-1; Sequence=Displayed; Name=2; IsoId=Q9BRQ4-2; Sequence=VSP_022694; Note=No experimental confirmation available.; Name=3; IsoId=Q9BRQ4-3; Sequence=VSP_046692, VSP_046693; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A0CY51}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A0CY51}.


uniprotID: B2RV13
geneSymbol: CFAP97D1
name: Uncharacterized protein CFAP97D1 (CFAP97 domain-containing protein 1)
length: 164
go: ENSG00000231256;
sequence:
MNNSLDYLAYPVIVSNHRQSTTFRKKLDFGHYVSHKNRIQIAKPTVDTKPPVAHTNHILKLSKLQGEQKKINKIEYENKQLCQKIANAHRGPAKVDCWNEYFSKSLNRETRNRELVRITMENQGILKRLVDRKPHYDRRASEIDWQNSRRYIRNTTRYLLSQNE


uniprotID: Q8N1V2
geneSymbol: CFAP52
length: 620
go: ENSG00000166596;
opentargets: cytoplasm [GO:0005737]; motile cilium [GO:0031514]
snps: rs6503235
name:
Cilia- and flagella-associated protein 52 (WD repeat-containing protein 16) (WD40-repeat protein up-regulated in HCC)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N1V2-1; Sequence=Displayed; Name=2; IsoId=Q8N1V2-2; Sequence=VSP_018067; Note=No experimental confirmation available.; Name=3; IsoId=Q8N1V2-3; Sequence=VSP_018068; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15967112}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A8ILK1}.


uniprotID: Q96M91
geneSymbol: CFAP53
name: Cilia- and flagella-associated protein 53 (Coiled-coil domain-containing protein 11)
length: 514
go: ENSG00000172361;
snps: rs886037751 rs12607385 rs35193847
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000303|PubMed:22577226}.
sequence:

opentargets:
cilium [GO:0005929]; cilium assembly [GO:0060271]; cilium movement [GO:0003341]; determination of left/right symmetry [GO:0007368]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]


uniprotID: Q6ZU64
geneSymbol: CFAP65
name: Cilia- and flagella-associated protein 65 (Coiled-coil domain-containing protein 108)
length: 1925
go: ENSG00000181378;
snps: rs6736922 rs13403802 rs9653262 rs11893183
sequence:

opentargets:
integral component of membrane [GO:0016021]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZU64-1; Sequence=Displayed; Name=2; IsoId=Q6ZU64-3; Sequence=VSP_045221, VSP_045222, VSP_045223; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZU64-4; Sequence=VSP_045221, VSP_055632, VSP_055633; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZU64-5; Sequence=VSP_055631, VSP_055632, VSP_055633; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane {ECO:0000250|UniProtKB:A8JFU2}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q5T0N1
geneSymbol: CFAP70
length: 1121
go: ENSG00000156042;
opentargets: cilium [GO:0005929]; extracellular exosome [GO:0070062]
snps: rs12256262 rs4294502
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:A8ITV9}.
name:
Cilia- and flagella-associated protein 70 (Tetratricopeptide repeat protein 18) (TPR repeat protein 18)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q5T0N1-1; Sequence=Displayed; Name=2; IsoId=Q5T0N1-2; Sequence=VSP_026291; Name=3; IsoId=Q5T0N1-3; Sequence=VSP_054462, VSP_026289; Note=No experimental confirmation available.; Name=4; IsoId=Q5T0N1-6; Sequence=VSP_054461, VSP_026291; Note=No experimental confirmation available.; Name=5; IsoId=Q5T0N1-7; Sequence=VSP_054461; Note=No experimental confirmation available.; 


uniprotID: D6REC4
geneSymbol: CFAP99
name: Cilia- and flagella-associated protein 99
length: 459
opentargets: motile cilium [GO:0031514]
location: SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A8IUG5}.
sequence:


uniprotID: P00751
geneSymbol: CFB
reactome: R-HSA-173736;R-HSA-174577;R-HSA-977606;
pdb: 1DLE;1Q0P;1RRK;1RS0;1RTK;2OK5;2WIN;2XWB;2XWJ;3HRZ;3HS0;5M6W;
length: 764
go: ENSG00000243649;
drug: DB02459;DB04491;
location: SUBCELLULAR LOCATION: Secreted.
name:
Complement factor B (EC 3.4.21.47) (C3/C5 convertase) (Glycine-rich beta glycoprotein) (GBG) (PBF2) (Properdin factor B) [Cleaved into: Complement factor B Ba fragment; Complement factor B Bb fragment]

sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; complement binding [GO:0001848]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, alternative pathway [GO:0006957]; regulation of complement activation [GO:0030449]

snps:
rs4151667 rs641153 rs12614 rs745794224 rs144812066 rs4151651 rs117905900 rs121909748 rs200837114 rs149101394 rs4151659 rs4151660 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00751-1; Sequence=Displayed; Name=2; IsoId=P00751-2; Sequence=VSP_005380, VSP_005381; 


uniprotID: P13569
geneSymbol: CFTR
reactome: R-HSA-382556;R-HSA-5627083;R-HSA-5678895;R-HSA-5689880;R-HSA-8856825;R-HSA-8856828;
length: 1480
go: ENSG00000001626;
drug: DB00887;DB04941;DB01016;DB01050;DB08820;DB09280;DB04395;DB04522;
pdb:
1NBD;1XMI;1XMJ;2BBO;2BBS;2BBT;2LOB;2PZE;2PZF;2PZG;3GD7;3ISW;4WZ6;5D2D;5D3E;5D3F;5TF7;5TF8;5TFA;5TFB;5TFC;5TFD;5TFF;5TFG;5TFI;5TFJ;5TGK;5UAK;

name:
Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 3.6.3.49) (cAMP-dependent chloride channel)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; chloride channel complex [GO:0034707]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; Golgi-associated vesicle membrane [GO:0030660]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; recycling endosome [GO:0055037]; recycling endosome membrane [GO:0055038]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; bicarbonate transmembrane transporter activity [GO:0015106]; chaperone binding [GO:0051087]; chloride channel activity [GO:0005254]; chloride channel inhibitor activity [GO:0019869]; chloride channel regulator activity [GO:0017081]; chloride transmembrane transporter activity [GO:0015108]; enzyme binding [GO:0019899]; intracellularly ATP-gated chloride channel activity [GO:0005260]; PDZ domain binding [GO:0030165]; Sec61 translocon complex binding [GO:0106138]; bicarbonate transport [GO:0015701]; cellular response to cAMP [GO:0071320]; cellular response to forskolin [GO:1904322]; chloride transmembrane transport [GO:1902476]; cholesterol biosynthetic process [GO:0006695]; cholesterol transport [GO:0030301]; intracellular pH elevation [GO:0051454]; membrane hyperpolarization [GO:0060081]; membrane organization [GO:0061024]; multicellular organismal water homeostasis [GO:0050891]; positive regulation of cyclic nucleotide-gated ion channel activity [GO:1902161]; positive regulation of exocytosis [GO:0045921]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of voltage-gated chloride channel activity [GO:1902943]; protein deubiquitination [GO:0016579]; sperm capacitation [GO:0048240]; transepithelial water transport [GO:0035377]; transmembrane transport [GO:0055085]; vesicle docking involved in exocytosis [GO:0006904]

snps:
rs397508635 rs1800073 rs149353983 rs143456784 rs1800074 rs1800074 rs397508220 rs397508272 rs368505753 rs115545701 rs1800076 rs75961395 rs397508403 rs121908750 rs121908751 rs397508464 rs121909031 rs113993958 rs140502196 rs77834169 rs78655421 rs78655421 rs78655421 rs201958172 rs1800078 rs76371115 rs397508700 rs35516286 rs397508718 rs1800079 rs80282562 rs1800080 rs397508759 rs397508765 rs121908802 rs121908803 rs121908752 rs397508780 rs397508783 rs397508790 rs191456345 rs397508804 rs143486492 rs150691494 rs397508817 rs121909016 rs75763344 rs397508819 rs1800085 rs121909011 rs397508139 rs77409459 rs397508146 rs77932196 rs77932196 rs77932196 rs1800086 rs121908753 rs1800087 rs397508152 rs76879328 rs147422190 rs74551128 rs397508195 rs121909009 rs1800089 rs213950 rs79282516 rs121909017 rs397508223 rs1800092 rs1800091 rs1800091 rs74571530 rs397508225 rs77646904 rs35032490 rs397508241 rs121908755 rs121908755 rs121909005 rs75527207 rs121909013 rs121909044 rs75789129 rs193922504 rs75549581 rs80055610 rs397508267 rs80055610 rs121909047 rs1800097 rs1800097 rs121909006 rs397508277 rs397508276 rs397508276 rs397508280 rs397508282 rs121908758 rs1800098 rs397508288 rs397508306 rs766874 rs397508311 rs201978662 rs201124247 rs139468767 rs397508313 rs397508314 rs397508315 rs121908759 rs397508316 rs397508318 rs121909033 rs780526529 rs1800099 rs1177201180 rs1800100 rs145540754 rs397508338 rs150157202 rs397508363 rs145449046 rs397508373 rs1800103 rs397508378 rs397508381 rs193922506 rs1800106 rs1800107 rs121909034 rs121909008 rs397508428 rs193922511 rs121909035 rs151048781 rs397508448 rs1800110 rs141033578 rs1800111 rs397508479 rs397508480 rs193922516 rs1800112 rs200553511 rs144055758 rs150212784 rs142394380 rs121909036 rs121909036 rs78194216 rs121909019 rs121909019 rs121909020 rs1800114 rs200321110 rs78769542 rs78769542 rs202179988 rs121909037 rs139304906 rs79635528 rs397508531 rs36210737 rs36210737 rs397508553 rs75541969 rs397508567 rs1800120 rs1800123 rs75389940 rs34911792 rs267606723 rs121909040 rs74503330 rs121909041 rs11971167 rs397508616 rs77902683 rs121909028 rs121909015 rs397508621 rs121909042 rs80034486 rs193922525 rs113857788 rs397508670 rs397508691 rs4148725 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P13569-1; Sequence=Displayed; Name=2; IsoId=P13569-2; Sequence=VSP_022123; Note=Exon 9 splicing depends upon 2 polymorphic tracts within intron 8, a T(n) tract and TG(n) tract, where the number of T and/or TG repeats affect the extent of correct splicing of exon 9. Low numbers of T residues and high numbers of TG repeats give rise to less efficient splicing. Transcripts that lack exon 9 sequences fail to mature. Causes congenital bilateral absence of the vas deferens (CBAVD).; Name=3; IsoId=P13569-3; Sequence=VSP_022124, VSP_022125; Note=Alternative acceptor site favored by mutation in an exonic splicing enhancer (ESE). Causes cystic fibrosis (CF).; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:1284548, ECO:0000269|PubMed:15247260, ECO:0000269|PubMed:15716351, ECO:0000269|PubMed:17462998, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:20008117, ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:28130590}; Multi-pass membrane protein {ECO:0000269|Ref.54}. Early endosome membrane {ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:20008117}; Multi-pass membrane protein {ECO:0000269|Ref.54}. Cell membrane {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:21884936, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:28001373, ECO:0000269|PubMed:28067262, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:28130590, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:8910473}; Multi-pass membrane protein {ECO:0000269|Ref.54}. Recycling endosome membrane {ECO:0000305|PubMed:17462998}; Multi-pass membrane protein {ECO:0000269|Ref.54}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:25330774}; Multi-pass membrane protein {ECO:0000269|Ref.54}. Nucleus {ECO:0000250|UniProtKB:P34158}. Note=The channel is internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:17462998, PubMed:19398555, PubMed:20008117). In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia (PubMed:22207244). In Sertoli cells, a processed product is detected in the nucleus (By similarity). ER stress induces GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936). {ECO:0000250|UniProtKB:P34158, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:20008117, ECO:0000269|PubMed:21884936, ECO:0000269|PubMed:22207244, ECO:0000305|PubMed:17462998}.


uniprotID: Q8NI28
geneSymbol: LINC01006
name: Putative uncharacterized protein encoded by LINC01006 (Long intergenic non-protein coding RNA 1006)
length: 216
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9BPX7
geneSymbol: C7orf25
name: UPF0415 protein C7orf25
length: 421
snps: rs3735471
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BPX7-1; Sequence=Displayed; Name=2; IsoId=Q9BPX7-2; Sequence=VSP_047243; 


uniprotID: Q8WU49
geneSymbol: C7orf33
name: Uncharacterized protein C7orf33
length: 177
go: ENSG00000170279;
sequence:
MQVEVQSLSLEECPWRLPGPQCECEALLPSGARRRIDLRLSGRAVAVWVHVRGGPGQFNLSYATGRHKKPNPHQNMNRGMEFIAPVSAPTKSGAPWHFLSQGPTDAQRAVRIRPGTRMGLSSDPVVGTLSSSYLDLLTLSYKPGRTVTSSYLNVRGHEVRKLQNSVEATRISRTDSS


uniprotID: Q8WVR3
geneSymbol: C7orf43
name: Uncharacterized protein C7orf43
length: 580
go: ENSG00000146826;
snps: rs2293477
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; microtubule organizing center [GO:0005815]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WVR3-1; Sequence=Displayed; Name=2; IsoId=Q8WVR3-2; Sequence=VSP_023633, VSP_023636, VSP_023637; Note=No experimental confirmation available.; Name=3; IsoId=Q8WVR3-3; Sequence=VSP_023634, VSP_023635; Note=No experimental confirmation available.; 


uniprotID: Q9BRJ6
geneSymbol: C7orf50
name: Uncharacterized protein C7orf50
length: 194
go: ENSG00000146540;
opentargets: RNA binding [GO:0003723]
sequence:
MAKQKRKVPEVTEKKNKKLKKASAEGPLLGPEAAPSGEGAGSKGEAVLRPGLDAEPELSPEEQRVLERKLKKERKKEERQRLREAGLVAQHPPARRSGAELALDYLCRWAQKHKNWRFQKTRQTWLLLHMYDSDKVPDEHFSTLLAYLEGLQGRARELTVQKAEALMRELDEEGSDPPLPGRAQRIRQVLQLLS


uniprotID: Q8NEG2
geneSymbol: C7orf57
name: Uncharacterized protein C7orf57
length: 295
go: ENSG00000164746;
snps: rs10951942
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEG2-1; Sequence=Displayed; Name=2; IsoId=Q8NEG2-2; Sequence=VSP_046991, VSP_046992, VSP_046993; Note=No experimental confirmation available.; 


uniprotID: Q8IZ16
geneSymbol: C7orf61
name: Uncharacterized protein C7orf61
length: 206
go: ENSG00000185955;
opentargets: nucleus [GO:0005634]
sequence:


uniprotID: Q6RW13
geneSymbol: AGTRAP
reactome: R-HSA-6802952;
name: Type-1 angiotensin II receptor-associated protein (AT1 receptor-associated protein)
length: 159
go: ENSG00000177674;
snps: rs17875960
sequence:
MELPAVNLKVILLGHWLLTTWGCIVFSGSYAWANFTILALGVWAVAQRDSIDAISMFLGGLLATIFLDIVHISIFYPRVSLTDTGRFGVGMAILSLLLKPLSCCFVYHMYRERGGELLVHTGFLGSSQDRSAYQTIDSAEAPADPFAVPEGRSQDARGY

opentargets:
cell cortex [GO:0005938]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; angiotensin type II receptor activity [GO:0004945]; regulation of blood pressure [GO:0008217]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6RW13-1; Sequence=Displayed; Name=2; IsoId=Q6RW13-2; Sequence=VSP_014839; Name=3; IsoId=Q6RW13-3; Sequence=VSP_039290; Note=No experimental confirmation available.; Name=5; IsoId=Q6RW13-5; Sequence=VSP_040406; Name=4; IsoId=Q6RW13-4; Sequence=VSP_039291; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12960423}; Multi-pass membrane protein {ECO:0000269|PubMed:12960423}. Golgi apparatus membrane {ECO:0000269|PubMed:12960423}; Multi-pass membrane protein {ECO:0000269|PubMed:12960423}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:12960423}; Multi-pass membrane protein {ECO:0000269|PubMed:12960423}. Note=Present in perinuclear vesicular membranes, Endoplasmic reticulum, Golgi and endocytic vesicles.


uniprotID: Q13535
geneSymbol: ATR
pdb: 5YZ0;
length: 2644
go: ENSG00000175054;
reactome:
R-HSA-1221632;R-HSA-176187;R-HSA-3371453;R-HSA-5685938;R-HSA-5693607;R-HSA-5693616;R-HSA-6783310;R-HSA-6796648;R-HSA-6804756;R-HSA-69473;

name:
Serine/threonine-protein kinase ATR (EC 2.7.11.1) (Ataxia telangiectasia and Rad3-related protein) (FRAP-related protein 1)

sequence:

opentargets:
chromosome [GO:0005694]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; MutLalpha complex binding [GO:0032405]; MutSalpha complex binding [GO:0032407]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to gamma radiation [GO:0071480]; cellular response to UV [GO:0034644]; DNA damage checkpoint [GO:0000077]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; establishment of protein-containing complex localization to telomere [GO:0097695]; establishment of RNA localization to telomere [GO:0097694]; interstrand cross-link repair [GO:0036297]; multicellular organism development [GO:0007275]; negative regulation of DNA replication [GO:0008156]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; positive regulation of telomerase catalytic core complex assembly [GO:1904884]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein autophosphorylation [GO:0046777]; protein localization to chromosome, telomeric region [GO:0070198]; regulation of cellular response to heat [GO:1900034]; replicative senescence [GO:0090399]; response to drug [GO:0042493]; telomere maintenance [GO:0000723]

snps:
rs35306038 rs28897763 rs2227928 rs2229033 rs28897764 rs28910271 rs34253059 rs34766606 rs34124242 rs55724025 rs55894265 rs35134774 rs28910273 rs387906797 rs2229032 rs33972295 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13535-1; Sequence=Displayed; Name=2; IsoId=Q13535-2; Sequence=VSP_013305, VSP_013304; Name=3; IsoId=Q13535-3; Sequence=VSP_036907, VSP_036908; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11114888, ECO:0000269|PubMed:11721054, ECO:0000269|PubMed:11865061, ECO:0000269|PubMed:12814551, ECO:0000269|PubMed:14871897, ECO:0000269|PubMed:16260606, ECO:0000269|PubMed:18283122, ECO:0000269|PubMed:8843195}. Nucleus, PML body {ECO:0000250|UniProtKB:Q9JKK8}. Chromosome {ECO:0000250|UniProtKB:Q9JKK8}. Note=Depending on the cell type, it can also be found in PML nuclear bodies. Recruited to chromatin during S-phase. Redistributes to discrete nuclear foci upon DNA damage, hypoxia or replication fork stalling.


uniprotID: P46100
geneSymbol: ATRX
pdb: 2JM1;2LBM;2LD1;3QL9;3QLA;3QLC;3QLN;4W5A;5GRQ;5Y18;5Y6O;
length: 2492
snps: rs35738915 rs1051678 rs1051680 rs3088074 rs45439799
name:
Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX)

sequence:

opentargets:
condensed nuclear chromosome, centromeric region [GO:0000780]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nuclear heterochromatin [GO:0005720]; nuclear pericentric heterochromatin [GO:0031618]; nuclear subtelomeric heterochromatin [GO:1990707]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; PML body [GO:0016605]; telomeric heterochromatin [GO:0031933]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; chromo shadow domain binding [GO:0070087]; DNA binding [GO:0003677]; DNA helicase activity [GO:0003678]; DNA translocase activity [GO:0015616]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; helicase activity [GO:0004386]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; cellular response to hydroxyurea [GO:0072711]; chromatin remodeling [GO:0006338]; chromosome organization involved in meiotic cell cycle [GO:0070192]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; DNA methylation [GO:0006306]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication-independent nucleosome assembly [GO:0006336]; forebrain development [GO:0030900]; meiotic spindle organization [GO:0000212]; multicellular organism growth [GO:0035264]; negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric [GO:1904908]; negative regulation of telomeric RNA transcription from RNA pol II promoter [GO:1901581]; nucleosome assembly [GO:0006334]; positive regulation of nuclear cell cycle DNA replication [GO:0010571]; positive regulation of telomere maintenance [GO:0032206]; positive regulation of telomeric RNA transcription from RNA pol II promoter [GO:1901582]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-embryonic forelimb morphogenesis [GO:0035128]; protein localization to chromosome, telomeric region [GO:0070198]; regulation of histone H3-K9 trimethylation [GO:1900112]; regulation of transcription, DNA-templated [GO:0006355]; replication fork processing [GO:0031297]; seminiferous tubule development [GO:0072520]; Sertoli cell development [GO:0060009]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=4; IsoId=P46100-1; Sequence=Displayed; Name=1; IsoId=P46100-2; Sequence=VSP_000575; Name=2; IsoId=P46100-3; Sequence=VSP_000574; Name=3; IsoId=P46100-4; Sequence=VSP_000576; Name=5; IsoId=P46100-5; Sequence=VSP_000574, VSP_000576; Name=6; IsoId=P46100-6; Sequence=VSP_015499, VSP_015500, VSP_015501; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, telomere. Nucleus, PML body. Note=Associated with pericentromeric heterochromatin during interphase and mitosis, probably by interacting with CBX5/HP1 alpha. Colocalizes with histone H3.3, DAXX, HIRA and ASF1A at PML-nuclear bodies. Colocalizes with cohesin (SMC1 and SMC3) and MECP2 at the maternal H19 ICR (By similarity). {ECO:0000250}.


uniprotID: P58397
geneSymbol: ADAMTS12
reactome: R-HSA-5083635;R-HSA-5173214;
length: 1594
go: ENSG00000151388;
snps: rs16891862 rs13362345 rs3813474 rs25754 rs16891281
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 12 (ADAM-TS 12) (ADAM-TS12) (ADAMTS-12) (EC 3.4.24.-)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; 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 cellular response to hepatocyte growth factor stimulus [GO:2001113]; negative regulation of cellular response to vascular endothelial growth factor stimulus [GO:1902548]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of hepatocyte growth factor receptor signaling pathway [GO:1902203]; proteoglycan catabolic process [GO:0030167]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of endothelial tube morphogenesis [GO:1901509]; regulation of inflammatory response [GO:0050727]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P58397-1; Sequence=Displayed; Name=2; IsoId=P58397-2; Sequence=VSP_013141, VSP_013142; Name=3; IsoId=P58397-3; Sequence=VSP_038151; Note=No experimental confirmation available.; 


uniprotID: Q76LX8
geneSymbol: ADAMTS13
reactome: R-HSA-5083635;R-HSA-5173214;
pdb: 3GHM;3GHN;3VN4;
length: 1427
go: ENSG00000160323;
name:
A disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAM-TS 13) (ADAM-TS13) (ADAMTS-13) (EC 3.4.24.87) (von Willebrand factor-cleaving protease) (vWF-CP) (vWF-cleaving protease)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; integrin binding [GO:0005178]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; cell-matrix adhesion [GO:0007160]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-4 [GO:0071353]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to tumor necrosis factor [GO:0071356]; glycoprotein metabolic process [GO:0009100]; integrin-mediated signaling pathway [GO:0007229]; peptide catabolic process [GO:0043171]; platelet activation [GO:0030168]; protein processing [GO:0016485]; proteolysis [GO:0006508]; response to amine [GO:0014075]; response to potassium ion [GO:0035864]; response to toxic substance [GO:0009636]

snps:
rs34024143 rs281875297 rs281875302 rs121908467 rs121908469 rs281875291 rs281875289 rs281875287 rs121908470 rs281875298 rs281875292 rs281875304 rs281875337 rs121908478 rs281875293 rs121908477 rs281875285 rs281875336 rs149517360 rs281875294 rs281875288 rs281875338 rs281875306 rs121908471 rs2301612 rs36220239 rs36220240 rs11575933 rs281875296 rs281875305 rs281875286 rs121908473 rs281875299 rs281875290 rs28647808 rs36090624 rs281875335 rs281875295 rs281875307 rs121908475 rs41314453 rs36221451 rs281875300 rs685523 rs78977446 rs281875301 rs281875301 rs121908468 rs36222275 rs121908472 rs28503257 rs142572218 rs782383410 rs281875340 rs121908474 rs281875339 rs36222894 rs281875303 rs142060916 rs281875308 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q76LX8-1; Sequence=Displayed; Name=2; IsoId=Q76LX8-2; Sequence=VSP_020003; Name=3; IsoId=Q76LX8-3; Sequence=VSP_020002, VSP_020003; Name=4; IsoId=Q76LX8-4; Sequence=VSP_055537, VSP_055538, VSP_055539; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12791682}. Note=Secretion enhanced by O-fucosylation of TSP type-1 repeats.


uniprotID: Q8TDX6
geneSymbol: CSGALNACT1
reactome: R-HSA-2022870;
length: 532
go: ENSG00000147408;
snps: rs17128518 rs7017776 rs200092345 rs746391651 rs17128366 rs533235539
name:
Chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CsGalNAcT-1) (EC 2.4.1.174) (Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1) (Beta4GalNAcT-1)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; intracellular [GO:0005622]; acetylgalactosaminyltransferase activity [GO:0008376]; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity [GO:0047238]; glucuronosyltransferase activity [GO:0015020]; glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity [GO:0047237]; metal ion binding [GO:0046872]; peptidoglycan glycosyltransferase activity [GO:0008955]; anatomical structure morphogenesis [GO:0009653]; cartilage development [GO:0051216]; cell proliferation [GO:0008283]; cell recognition [GO:0008037]; chondroitin sulfate biosynthetic process [GO:0030206]; chondroitin sulfate proteoglycan biosynthetic process [GO:0050650]; chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process [GO:0050653]; dermatan sulfate proteoglycan biosynthetic process [GO:0050651]; endochondral ossification [GO:0001958]; extracellular matrix organization [GO:0030198]; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process [GO:0015014]; heparin biosynthetic process [GO:0030210]; nervous system development [GO:0007399]; proteoglycan biosynthetic process [GO:0030166]; UDP-glucuronate metabolic process [GO:0046398]; UDP-N-acetylgalactosamine metabolic process [GO:0019276]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TDX6-1; Sequence=Displayed; Name=2; IsoId=Q8TDX6-2; Sequence=VSP_012726, VSP_012727; Note=No experimental confirmation available.; Name=3; IsoId=Q8TDX6-3; Sequence=VSP_012728; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000305|PubMed:11788602}; Single-pass type II membrane protein {ECO:0000305|PubMed:11788602}.


uniprotID: Q8N6G5
geneSymbol: CSGALNACT2
reactome: R-HSA-2022870;
length: 542
go: ENSG00000169826;
snps: rs11238456 rs2435381
name:
Chondroitin sulfate N-acetylgalactosaminyltransferase 2 (EC 2.4.1.174) (Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 2) (Beta4GalNAcT-2) (GalNAcT-2)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; membrane [GO:0016020]; acetylgalactosaminyltransferase activity [GO:0008376]; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity [GO:0047238]; glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity [GO:0047237]; metal ion binding [GO:0046872]; chondroitin sulfate biosynthetic process [GO:0030206]; chondroitin sulfate proteoglycan biosynthetic process [GO:0050650]; chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process [GO:0050653]; dermatan sulfate proteoglycan biosynthetic process [GO:0050651]; dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process [GO:0050652]; proteoglycan biosynthetic process [GO:0030166]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N6G5-1; Sequence=Displayed; Name=2; IsoId=Q8N6G5-2; Sequence=VSP_012729, VSP_012730; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q6NT52
geneSymbol: CGB2
name: Choriogonadotropin subunit beta variant 2
length: 163
go: ENSG00000104818;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MSKGLLLLLLLSMGGTWASKEPLRPRCRPINATLAVEKEGCPVCITVNTTICAGYCPTMTRVLQGVLPALPQVVCNYRDVRFESIRLPGCPRGVNPVVSYAVALSCQCALCRRSTTDCGGPKDHPLTCDDPRFQASSSSKAPPPSLPSPSRLPGPSDTPILPQ

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; hormone-mediated signaling pathway [GO:0009755]


uniprotID: P0DN86
geneSymbol: CGB3; CGB5; CGB8
reactome: R-HSA-209822;R-HSA-8866910;
pdb: 1HCN;1HRP;1QFW;1XUL;
length: 165
go: ENSG00000189052;ENSG00000213030;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16123088}.
name:
Choriogonadotropin subunit beta 3 (Choriogonadotropin subunit beta) (CG-beta) (Chorionic gonadotropin chain beta)

sequence:
MEMFQGLLLLLLLSMGGTWASKEPLRPRCRPINATLAVEKEGCPVCITVNTTICAGYCPTMTRVLQGVLPALPQVVCNYRDVRFESIRLPGCPRGVNPVVSYAVALSCQCALCRRSTTDCGGPKDHPLTCDDPRFQDSSSSKAPPPSLPSPSRLPGPSDTPILPQ

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; apoptotic process [GO:0006915]; cell-cell signaling [GO:0007267]; female gamete generation [GO:0007292]; hormone-mediated signaling pathway [GO:0009755]; peptide hormone processing [GO:0016486]; regulation of transcription by RNA polymerase II [GO:0006357]; signal transduction [GO:0007165]

snps:
rs767100833 rs371475564 rs201240617 rs201575305 rs199720009 rs201373221 rs201780746 rs199824672 rs200199557 rs199614255 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0DN86-1; Sequence=Displayed; Name=2; IsoId=P0DN86-2; Sequence=VSP_038396; 


uniprotID: P0DN87
geneSymbol: CGB7
name: Choriogonadotropin subunit beta 7
length: 165
go: ENSG00000196337;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16123088}.
sequence:
MEMFQGLLLLLLLSMGGTWASREMLRPRCRPINATLAVEKEGCPVCITVNTTICAGYCPTMTRVLQGVLPALPQVVCNYRDVRFESIRLPGCPRGVNPVVSYAVALSCQCALCRRSTTDCGGPKDHPLTCDDPRFQASSSSKAPPPSLPSPSRLPGPSDTPILPQ

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; apoptotic process [GO:0006915]; cell-cell signaling [GO:0007267]; female gamete generation [GO:0007292]; hormone-mediated signaling pathway [GO:0009755]; signal transduction [GO:0007165]


uniprotID: O75173
geneSymbol: ADAMTS4
reactome: R-HSA-1474228;R-HSA-5083635;R-HSA-5173214;
pdb: 2RJP;3B2Z;4WK7;4WKE;4WKI;
length: 837
go: ENSG00000158859;
drug: DB06822;
snps: rs17855814 rs34448954 rs17855813 rs17855812 rs17855815 rs17855816 rs4233367 rs11807350
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
A disintegrin and metalloproteinase with thrombospondin motifs 4 (ADAM-TS 4) (ADAM-TS4) (ADAMTS-4) (EC 3.4.24.82) (ADMP-1) (Aggrecanase-1)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nuclear speck [GO:0016607]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; peptidase activity [GO:0008233]; protease binding [GO:0002020]; extracellular matrix disassembly [GO:0022617]; proteolysis [GO:0006508]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75173-1; Sequence=Displayed; Name=2; Synonyms=ADAMTS4_v1; IsoId=O75173-2; Sequence=VSP_057293; Note=Functional aggrecanase. {ECO:0000269|PubMed:23897278}; 


uniprotID: Q86TL0
geneSymbol: ATG4D
reactome: R-HSA-1632852;
length: 474
go: ENSG00000130734;
name:
Cysteine protease ATG4D (EC 3.4.22.-) (AUT-like 4 cysteine endopeptidase) (Autophagin-4) (Autophagy-related cysteine endopeptidase 4) (Autophagy-related protein 4 homolog D) [Cleaved into: Cysteine protease ATG4D, mitochondrial]

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; cysteine-type peptidase activity [GO:0008234]; apoptotic process [GO:0006915]; autophagy [GO:0006914]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86TL0-1; Sequence=Displayed; Name=2; IsoId=Q86TL0-2; Sequence=VSP_056671; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cysteine protease ATG4D: Cytoplasm {ECO:0000269|PubMed:19549685}.; SUBCELLULAR LOCATION: Cysteine protease ATG4D, mitochondrial: Cytoplasm {ECO:0000269|PubMed:19549685}. Mitochondrion matrix {ECO:0000269|PubMed:19549685, ECO:0000269|PubMed:22441018}. Note=Imported into mitochondrial matrix after cleavage by CASP3 during oxidative stress and cell death. {ECO:0000269|PubMed:22441018}.


uniprotID: P05496
geneSymbol: ATP5MC1
reactome: R-HSA-1268020;R-HSA-163210;R-HSA-8949613;
length: 136
go: ENSG00000159199;
location: SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein.
name:
ATP synthase F(0) complex subunit C1, mitochondrial (ATP synthase lipid-binding protein) (ATP synthase membrane subunit c locus 1) (ATP synthase proteolipid P1) (ATP synthase proton-transporting mitochondrial F(0) complex subunit C1) (ATPase protein 9) (ATPase subunit c)

sequence:
MQTAGALFISPALIRCCTRGLIRPVSASFLNSPVNSSKQPSYSNFPLQVARREFQTSVVSRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGYARNPSLKQQLFSYAILGFALSEAMGLFCLMVAFLILFAM

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; mitochondrion [GO:0005739]; proton-transporting ATP synthase complex, coupling factor F(o) [GO:0045263]; lipid binding [GO:0008289]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; transporter activity [GO:0005215]; ATP biosynthetic process [GO:0006754]; ATP hydrolysis coupled proton transport [GO:0015991]; ATP synthesis coupled proton transport [GO:0015986]; cristae formation [GO:0042407]


uniprotID: Q5T2N8
geneSymbol: ATAD3C
name: ATPase family AAA domain-containing protein 3C
length: 411
sequence:

opentargets:
mitochondrion [GO:0005739]; ATP binding [GO:0005524]; zinc ion binding [GO:0008270]; mitochondrion organization [GO:0007005]


uniprotID: Q00526
geneSymbol: CDK3
pdb: 1LFN;
name: Cyclin-dependent kinase 3 (EC 2.7.11.22) (Cell division protein kinase 3)
length: 305
go: ENSG00000250506;
snps: rs34918446 rs34670267 rs2069532 rs17884251
sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cell division [GO:0051301]; cell proliferation [GO:0008283]; cellular response to DNA damage stimulus [GO:0006974]; G0 to G1 transition [GO:0045023]; G1/S transition of mitotic cell cycle [GO:0000082]; protein phosphorylation [GO:0006468]


uniprotID: P51164
geneSymbol: ATP4B
reactome: R-HSA-936837;
length: 291
go: ENSG00000186009;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.
name:
Potassium-transporting ATPase subunit beta (Gastric H(+)/K(+) ATPase subunit beta) (Proton pump beta chain)

sequence:

opentargets:
plasma membrane [GO:0005886]; sodium:potassium-exchanging ATPase complex [GO:0005890]; ATPase activator activity [GO:0001671]; potassium:proton exchanging ATPase activity [GO:0008900]; cell adhesion [GO:0007155]; cellular potassium ion homeostasis [GO:0030007]; cellular sodium ion homeostasis [GO:0006883]; establishment or maintenance of transmembrane electrochemical gradient [GO:0010248]; potassium ion import [GO:0010107]; response to lipopolysaccharide [GO:0032496]; response to organonitrogen compound [GO:0010243]; sodium ion export across plasma membrane [GO:0036376]


uniprotID: Q9BSB4
geneSymbol: ATG101
reactome: R-HSA-1632852;
pdb: 4WZG;5C50;5XUY;5XV1;5XV3;5XV4;5XV6;
name: Autophagy-related protein 101
length: 218
go: ENSG00000123395;
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; phagophore assembly site [GO:0000407]; identical protein binding [GO:0042802]; protein-containing complex binding [GO:0044877]; autophagosome assembly [GO:0000045]; macroautophagy [GO:0016236]; regulation of macroautophagy [GO:0016241]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19597335}. Preautophagosomal structure {ECO:0000269|PubMed:19597335}. Note=Under starvation conditions, it is localized to puncate structures primarily representing the isolation membrane; the isolation membrane sequesters a portion of the cytoplasm resulting in autophagosome formation. {ECO:0000269|PubMed:19597335}.


uniprotID: P56385
geneSymbol: ATP5ME
reactome: R-HSA-163210;R-HSA-8949613;
sequence: MVPPVQVSPLIKLGRYSALFLGVAYGATRYNYLKPRAEEERRIAAEEKKKQDELKRIARELAEDDSILK
length: 69
go: ENSG00000169020;
location: SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
name:
ATP synthase subunit e, mitochondrial (ATPase subunit e) (ATP synthase membrane subunit e) [Cleaved into: ATP synthase subunit e, mitochondrial, N-terminally processed]

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; mitochondrion [GO:0005739]; proton transmembrane transporter activity [GO:0015078]; transmembrane transporter activity [GO:0022857]; ATP biosynthetic process [GO:0006754]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]


uniprotID: Q6NVV7
geneSymbol: CDPF1
name: Cysteine-rich DPF motif domain-containing protein 1
length: 123
go: ENSG00000205643;
snps: rs9627281 rs55641018
sequence:
MASHVECRPLGVFECELCTLTAPYSYVGQKPPNTQSMVLLEESYVMKDPFTSDKDRFLVLGSCCSLCSRLVCVGPECSLFYSKRFCLPCVRENINAFPQEIRQDLEKRKAPSKRTPSQPGSRT


uniprotID: O95319
geneSymbol: CELF2
pdb: 2MY7;2MY8;4LJM;4LMZ;4TLQ;5M8I;
length: 508
go: ENSG00000048740;
snps: rs1050942
name:
CUGBP Elav-like family member 2 (CELF-2) (Bruno-like protein 3) (CUG triplet repeat RNA-binding protein 2) (CUG-BP2) (CUG-BP- and ETR-3-like factor 2) (ELAV-type RNA-binding protein 3) (ETR-3) (Neuroblastoma apoptosis-related RNA-binding protein) (hNAPOR) (RNA-binding protein BRUNOL-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA binding [GO:0003729]; pre-mRNA binding [GO:0036002]; RNA binding [GO:0003723]; mRNA splice site selection [GO:0006376]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of heart contraction [GO:0008016]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=NAPOR-3; IsoId=O95319-1; Sequence=Displayed; Name=2; Synonyms=NAPOR-1; IsoId=O95319-2; Sequence=VSP_026796, VSP_026798; Name=3; IsoId=O95319-3; Sequence=VSP_026797, VSP_026799; Name=4; Synonyms=NAPOR-2; IsoId=O95319-4; Sequence=VSP_026797, VSP_026798; Name=5; IsoId=O95319-5; Sequence=VSP_026796, VSP_026800; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Accumulates in the cytoplasm after ionizing radiation (By similarity). Colocalizes with APOBEC1 and A1CF. RNA-binding activity is detected in both nuclear and cytoplasmic compartments. {ECO:0000250}.


uniprotID: Q96J87
geneSymbol: CELF6
pdb: 2DGQ;
length: 481
go: ENSG00000140488;
snps: rs34566074
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
name:
CUGBP Elav-like family member 6 (CELF-6) (Bruno-like protein 6) (CUG-BP- and ETR-3-like factor 6) (RNA-binding protein BRUNOL-6)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA splice site selection [GO:0006376]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96J87-1; Sequence=Displayed; Name=2; IsoId=Q96J87-2; Sequence=VSP_026847, VSP_026848; Name=3; IsoId=Q96J87-3; Sequence=VSP_043245; Note=No experimental confirmation available.; Name=4; IsoId=Q96J87-4; Sequence=VSP_043242, VSP_043243, VSP_043244; Note=No experimental confirmation available.; 


uniprotID: Q9NYQ6
geneSymbol: CELSR1
length: 3014
go: ENSG00000075275;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Cadherin EGF LAG seven-pass G-type receptor 1 (Cadherin family member 9) (Flamingo homolog 2) (hFmi2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; G protein-coupled receptor activity [GO:0004930]; protein dimerization activity [GO:0046983]; transmembrane signaling receptor activity [GO:0004888]; anterior/posterior pattern specification [GO:0009952]; apical protein localization [GO:0045176]; central nervous system development [GO:0007417]; establishment of body hair planar orientation [GO:0048105]; establishment of planar polarity [GO:0001736]; establishment of planar polarity of embryonic epithelium [GO:0042249]; G protein-coupled receptor signaling pathway [GO:0007186]; hair follicle development [GO:0001942]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; inner ear morphogenesis [GO:0042472]; lateral sprouting involved in lung morphogenesis [GO:0060490]; locomotory behavior [GO:0007626]; neural tube closure [GO:0001843]; neuron migration [GO:0001764]; orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis [GO:0060488]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; planar dichotomous subdivision of terminal units involved in lung branching morphogenesis [GO:0060489]; protein localization involved in establishment of planar polarity [GO:0090251]; regulation of actin cytoskeleton organization [GO:0032956]; Rho protein signal transduction [GO:0007266]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]; wound healing [GO:0042060]

snps:
rs34141466 rs4823850 rs12170597 rs4823561 rs6008842 rs34467708 rs6008795 rs6008794 rs12169391 rs4044210 rs34267201 rs6007897 rs7287089 rs199688538 rs148905592 rs12165943 rs9615351 rs35364389 rs6008777 rs61741871 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYQ6-1; Sequence=Displayed; Name=2; IsoId=Q9NYQ6-2; Sequence=VSP_002011, VSP_002012; Note=No experimental confirmation available.; 


uniprotID: Q6PRD7
geneSymbol: CEMP1
name: Cementoblastoma-derived protein 1 (Cementum protein 1) (Cementum protein 23) (CP-23)
length: 247
go: ENSG00000205923;
snps: rs13331643
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; hydroxyapatite binding [GO:0046848]; biomineral tissue development [GO:0031214]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; odontogenesis [GO:0042476]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16263347, ECO:0000269|PubMed:21465469}. Nucleus {ECO:0000269|PubMed:21465469}. Note=Localizes to the nucleus of some cementoblasts. {ECO:0000269|PubMed:21465469}.


uniprotID: A0A0U1RR11
geneSymbol: CENPVL1
name: Centromere protein V-like protein 1 (Centromere protein V pseudogene 1)
length: 272
go: ENSG00000223591;
opentargets: carbon-sulfur lyase activity [GO:0016846]
sequence:


uniprotID: Q6P2H3
geneSymbol: CEP85
pdb: 5OI7;5OID;
name: Centrosomal protein of 85 kDa (Cep85) (Coiled-coil domain-containing protein 21)
length: 762
go: ENSG00000130695;
snps: rs35831900 rs3795686 rs7550997 rs36013141
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; pericentriolar material [GO:0000242]; spindle pole [GO:0000922]; chromosome segregation [GO:0007059]; negative regulation of protein kinase activity [GO:0006469]; regulation of mitotic centrosome separation [GO:0046602]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6P2H3-1; Sequence=Displayed; Name=2; IsoId=Q6P2H3-2; Sequence=VSP_018147; Name=3; IsoId=Q6P2H3-3; Sequence=VSP_026435; Name=4; IsoId=Q6P2H3-4; Sequence=VSP_055609; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:26220856}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:26220856}. Nucleus, nucleolus {ECO:0000269|PubMed:21399614}. Note=Localizes to centrosomes and nucleolus in interphase. Upon entry into mitosis, relocates from nucleolus and accumulates at spindle poles (PubMed:21399614). Associated with the pericentriolar material. Localizes to centrosomes at a low level in G1 phase and a slightly increased level in S phase, with gradually elevated levels during G2 phase. The levels at centrosomes further increase at G2/M, reaching a peak at spindle poles at early mitotic stages and remain high until the end of anaphase (PubMed:26220856). {ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:26220856}.


uniprotID: Q9HD87
geneSymbol: C6orf50
name: Putative uncharacterized protein C6orf50 (Nasopharyngeal carcinoma-associated gene 19 protein)
length: 102
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MANTQLDHLHYTTEFTRNDLLIICKKFNLMLMDEDIISLLAIFIKMCLWLWKQFLKRGSKCSETSELLEKVKLQLAFTAYKYVDICFPEQMAYSRYIRWYIH


uniprotID: Q7Z4R8
geneSymbol: C6orf120
reactome: R-HSA-6798695;
name: UPF0669 protein C6orf120
length: 191
go: ENSG00000185127;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:22340178}. Note=Secreted by hepatocytes.
sequence:
MAAPRGRAAPWTTALLLLLASQVLSPGSCADEEEVPEEWVLLHVVQGQIGAGNYSYLRLNHEGKIVLRMRSLKGDADLYVSASSLHPSFDDYELQSATCGPDAVSIPAHFRRPVGIGVYGHPSHLESEFEMKVYYDGTVEQHPFGEAAYPADGADAGQKHAGAPEDASQEEESVLWTILISILKLVLEILF

opentargets:
azurophil granule lumen [GO:0035578]; extracellular region [GO:0005576]; apoptotic process [GO:0006915]; neutrophil degranulation [GO:0043312]


uniprotID: Q5T6M2
geneSymbol: LINC00242
name: Putative uncharacterized protein encoded by LINC00242
length: 205
sequence:


uniprotID: Q5T655
geneSymbol: CFAP58
name: Cilia- and flagella-associated protein 58 (Coiled-coil domain-containing protein 147)
length: 872
go: ENSG00000120051;
opentargets: cilium [GO:0005929]; extracellular space [GO:0005615]
snps: rs11192036 rs7087328
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:A8HUA1}.
sequence:


uniprotID: A6NFT4
geneSymbol: CFAP73
name: Cilia- and flagella-associated protein 73 (Coiled-coil domain-containing protein 42B)
length: 308
go: ENSG00000186710;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:M1V4Y8}.
sequence:

opentargets:
axonemal outer doublet [GO:0097545]; motile cilium [GO:0031514]; dynein complex binding [GO:0070840]; cilium movement [GO:0003341]; inner dynein arm assembly [GO:0036159]; regulation of microtubule motor activity [GO:2000574]


uniprotID: Q9C0B2
geneSymbol: CFAP74
name: Cilia- and flagella-associated protein 74
length: 1584
go: ENSG00000142609;
opentargets: axoneme [GO:0005930]; axoneme assembly [GO:0035082]
snps: rs13303083 rs16824588 rs3820011
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:D4P3R7}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9C0B2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9C0B2-2; Sequence=VSP_057369, VSP_057370; Note=No experimental confirmation available.; Name=3; IsoId=Q9C0B2-3; Sequence=VSP_032345; Note=No experimental confirmation available.; 


uniprotID: P56134
geneSymbol: ATP5MF
reactome: R-HSA-163210;R-HSA-8949613;
name: ATP synthase subunit f, mitochondrial (ATP synthase membrane subunit f)
sequence: MASVGECPAPVPVKDKKLLEVKLGELPSWILMRDFSPSGIFGAFQRGYYRYYNKYINVKKGSISGITMVLACYVLFSYSFSYKHLKHERLRKYH
length: 94
go: ENSG00000241468;
opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; transmembrane transporter activity [GO:0022857]; ATP biosynthetic process [GO:0006754]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; proton transmembrane transport [GO:1902600]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P56134-1; Sequence=Displayed; Name=2; IsoId=P56134-2; Sequence=VSP_000437; Note=No experimental confirmation available.; Name=3; IsoId=P56134-3; Sequence=VSP_046746; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=4; IsoId=P56134-4; Sequence=VSP_000437, VSP_046746; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: P0CG36
geneSymbol: CFC1B
name: Cryptic family protein 1B
length: 223
go: ENSG00000152093;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; activin receptor binding [GO:0070697]; nodal binding [GO:0038100]; signaling receptor binding [GO:0005102]; anatomical structure development [GO:0048856]; anterior/posterior pattern specification [GO:0009952]; BMP signaling pathway [GO:0030509]; determination of left/right symmetry [GO:0007368]; gastrulation [GO:0007369]; heart development [GO:0007507]; nodal signaling pathway [GO:0038092]


uniprotID: O75143
geneSymbol: ATG13
reactome: R-HSA-1632852;
pdb: 3WAN;3WAO;3WAP;5C50;5XUY;5XV1;5XV3;5XV4;5XV6;
name: Autophagy-related protein 13
length: 517
go: ENSG00000175224;
sequence:

opentargets:
Atg1/ULK1 kinase complex [GO:1990316]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extrinsic component of membrane [GO:0019898]; mitochondrion [GO:0005739]; phagophore assembly site [GO:0000407]; protein kinase binding [GO:0019901]; protein kinase regulator activity [GO:0019887]; activation of protein kinase activity [GO:0032147]; autophagosome assembly [GO:0000045]; autophagy of mitochondrion [GO:0000422]; macroautophagy [GO:0016236]; mitophagy [GO:0000423]; piecemeal microautophagy of the nucleus [GO:0034727]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein localization to phagophore assembly site [GO:0034497]; regulation of macroautophagy [GO:0016241]; response to mitochondrial depolarisation [GO:0098780]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=O75143-1; Sequence=Displayed; Name=2; IsoId=O75143-2; Sequence=VSP_002431; Name=3; IsoId=O75143-3; Sequence=VSP_002431, VSP_002432, VSP_002433; Name=4; IsoId=O75143-4; Sequence=VSP_044503, VSP_044504; Name=5; IsoId=O75143-5; Sequence=VSP_044640; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19211835}. Preautophagosomal structure {ECO:0000269|PubMed:19211835}. Note=Under starvation conditions, is localized to puncate structures primarily representing the isolation membrane; the isolation membrane sequesters a portion of the cytoplasm resulting in autophagosome formation. {ECO:0000269|PubMed:19211835}.


uniprotID: Q96BY7
geneSymbol: ATG2B
name: Autophagy-related protein 2 homolog B
length: 2078
go: ENSG00000066739;
snps: rs9323945 rs3759601 rs2289622
sequence:

opentargets:
extrinsic component of membrane [GO:0019898]; lipid droplet [GO:0005811]; nucleoplasm [GO:0005654]; phagophore assembly site [GO:0000407]; phagophore assembly site membrane [GO:0034045]; autophagosome assembly [GO:0000045]; autophagy of mitochondrion [GO:0000422]

location:
SUBCELLULAR LOCATION: Preautophagosomal structure membrane {ECO:0000269|PubMed:22219374}; Peripheral membrane protein {ECO:0000269|PubMed:22219374}. Lipid droplet {ECO:0000269|PubMed:22219374}.


uniprotID: P11802
geneSymbol: CDK4
pdb: 1LD2;2W96;2W99;2W9F;2W9Z;3G33;5FWK;5FWL;5FWM;5FWP;
name: Cyclin-dependent kinase 4 (EC 2.7.11.22) (Cell division protein kinase 4) (PSK-J3)
length: 303
go: ENSG00000135446;
drug: DB03496;DB09073;DB02733;DB11730;
snps: rs11547328 rs104894340 rs144890720 rs3211612 rs34386532
reactome:
R-HSA-187577;R-HSA-2559580;R-HSA-2559582;R-HSA-2559585;R-HSA-3214858;R-HSA-381340;R-HSA-69229;R-HSA-69231;R-HSA-8849470;R-HSA-8878166;R-HSA-912446;

sequence:

opentargets:
bicellular tight junction [GO:0005923]; chromatin [GO:0000785]; cyclin D2-CDK4 complex [GO:0097129]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; transcription factor complex [GO:0005667]; ATP binding [GO:0005524]; cyclin binding [GO:0030332]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein-containing complex binding [GO:0044877]; adipose tissue development [GO:0060612]; animal organ regeneration [GO:0031100]; cell division [GO:0051301]; cellular response to insulin stimulus [GO:0032869]; cellular response to interleukin-4 [GO:0071353]; cellular response to ionomycin [GO:1904637]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to phorbol 13-acetate 12-myristate [GO:1904628]; circadian rhythm [GO:0007623]; G1/S transition of mitotic cell cycle [GO:0000082]; lens development in camera-type eye [GO:0002088]; negative regulation of cell cycle arrest [GO:0071157]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell size [GO:0045793]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of translation [GO:0045727]; protein phosphorylation [GO:0006468]; regulation of gene expression [GO:0010468]; regulation of insulin receptor signaling pathway [GO:0046626]; regulation of lipid biosynthetic process [GO:0046890]; regulation of lipid catabolic process [GO:0050994]; regulation of multicellular organism growth [GO:0040014]; response to drug [GO:0042493]; response to hyperoxia [GO:0055093]; response to lead ion [GO:0010288]; response to testosterone [GO:0033574]; response to toxic substance [GO:0009636]; signal transduction [GO:0007165]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11802-1; Sequence=Displayed; Name=2; IsoId=P11802-2; Sequence=VSP_056487; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Membrane. Note=Cytoplasmic when non-complexed. Forms a cyclin D-CDK4 complex in the cytoplasm as cells progress through G(1) phase. The complex accumulates on the nuclear membrane and enters the nucleus on transition from G(1) to S phase. Also present in nucleoli and heterochromatin lumps. Colocalizes with RB1 after release into the nucleus.


uniprotID: P13637
geneSymbol: ATP1A3
reactome: R-HSA-5578775;R-HSA-936837;
length: 1013
go: ENSG00000105409;
drug: DB09479;
name:
Sodium/potassium-transporting ATPase subunit alpha-3 (Na(+)/K(+) ATPase alpha-3 subunit) (EC 3.6.3.9) (Na(+)/K(+) ATPase alpha(III) subunit) (Sodium pump subunit alpha-3)

sequence:

opentargets:
axon [GO:0030424]; endoplasmic reticulum [GO:0005783]; extracellular vesicle [GO:1903561]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; neuronal cell body membrane [GO:0032809]; plasma membrane [GO:0005886]; sodium:potassium-exchanging ATPase complex [GO:0005890]; synapse [GO:0045202]; amyloid-beta binding [GO:0001540]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; ion antiporter activity involved in regulation of presynaptic membrane potential [GO:0099520]; metal ion binding [GO:0046872]; sodium:potassium-exchanging ATPase activity [GO:0005391]; steroid hormone binding [GO:1990239]; ATP hydrolysis coupled proton transport [GO:0015991]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cellular potassium ion homeostasis [GO:0030007]; cellular response to amyloid-beta [GO:1904646]; cellular response to steroid hormone stimulus [GO:0071383]; cellular sodium ion homeostasis [GO:0006883]; neuron projection maintenance [GO:1990535]; potassium ion import [GO:0010107]; regulation of resting membrane potential [GO:0060075]; response to glycoside [GO:1903416]; sodium ion export across plasma membrane [GO:0036376]

snps:
rs542652468 rs542652468 rs606231427 rs80356532 rs80356532 rs80356533 rs879255368 rs606231428 rs606231430 rs606231433 rs80356534 rs557052809 rs557052809 rs80356535 rs534926223 rs606231437 rs606231437 rs80356536 rs80356537 rs80356537 rs549006436 rs536681257 rs387907282 rs387907281 rs587777771 rs267606670 rs267606670 rs606231444 rs398122887 rs606231446 rs606231447 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P13637-1; Sequence=Displayed; Name=2; IsoId=P13637-2; Sequence=VSP_046956; Name=3; IsoId=P13637-3; Sequence=VSP_046957; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:7711835}; Multi-pass membrane protein {ECO:0000269|PubMed:7711835}.


uniprotID: O43313
geneSymbol: ATMIN
length: 823
go: ENSG00000166454;
snps: rs2278022 rs2278023
name:
ATM interactor (ATM/ATR-substrate CHK2-interacting zinc finger protein) (ASCIZ) (Zinc finger protein 822)

sequence:

opentargets:
nuclear body [GO:0016604]; dynein complex binding [GO:0070840]; metal ion binding [GO:0046872]; transcription regulatory region DNA binding [GO:0044212]; cellular response to DNA damage stimulus [GO:0006974]; motile cilium assembly [GO:0044458]; positive regulation of non-motile cilium assembly [GO:1902857]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43313-1; Sequence=Displayed; Name=2; IsoId=O43313-2; Sequence=VSP_035820; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15933716, ECO:0000269|PubMed:17525732}. Note=Nuclear, in discrete foci during G1 phase.


uniprotID: P56381
geneSymbol: ATP5F1E
reactome: R-HSA-163210;R-HSA-8949613;
sequence: MVAYWRQAGLSYIRYSQICAKAVRDALKTEFKANAEKTSGSNVKIVKVKKE
length: 51
go: ENSG00000124172;
snps: rs387906929
location: SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
name:
ATP synthase subunit epsilon, mitochondrial (ATPase subunit epsilon) (ATP synthase F1 subunit epsilon)

opentargets:
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]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; transmembrane transporter activity [GO:0022857]; ATP biosynthetic process [GO:0006754]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]


uniprotID: P03928
geneSymbol: MT-ATP8
reactome: R-HSA-163210;R-HSA-8949613;
name: ATP synthase protein 8 (A6L) (F-ATPase subunit 8)
sequence: MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS
length: 68
go: ENSG00000228253;
snps: rs879056797 rs387906422
location: SUBCELLULAR LOCATION: Mitochondrion membrane; Single-pass membrane protein.
opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; proton transmembrane transporter activity [GO:0015078]; transmembrane transporter activity [GO:0022857]; ATP biosynthetic process [GO:0006754]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]


uniprotID: Q9C0D2
geneSymbol: CEP295
name: Centrosomal protein of 295 kDa
length: 2601
go: ENSG00000166004;
snps: rs7128850 rs10831088 rs4753495 rs3802771 rs2298707 rs3802773 rs3802774
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; mitotic spindle microtubule [GO:1990498]; plasma membrane [GO:0005886]; microtubule binding [GO:0008017]; positive regulation of centriole elongation [GO:1903724]; positive regulation of centrosome duplication [GO:0010825]; positive regulation of establishment of protein localization [GO:1904951]; positive regulation of protein acetylation [GO:1901985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9C0D2-1; Sequence=Displayed; Name=2; IsoId=Q9C0D2-2; Sequence=VSP_032289, VSP_032290; Note=No experimental confirmation available.; Name=3; IsoId=Q9C0D2-3; Sequence=VSP_032291; Note=No experimental confirmation available.; Name=4; IsoId=Q9C0D2-4; Sequence=VSP_032288, VSP_032291; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:25131205, ECO:0000269|PubMed:27185865}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20844083, ECO:0000269|PubMed:27185865}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:27185865}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:27185865}. Note=Associates with both of the converted centrioles during G1 but becomes more enriched at the newly formed daughter (or unconverted) centrioles during S, G2, and early M phases (PubMed:25131205). In early S phase, localized at the procentriolar microtubule wall and enriched at the proximal ends of the centrioles in CENPJ- and CEP135-dependent manner (PubMed:27185865). Colocalizes with SASS6 and CEP250 proteins (PubMed:25131205). Colocalizes with CEP135 and CEP192 at the centrosomes (PubMed:27185865). Associates with interphase microtubules and mitotic spindles (PubMed:27185865). Colocalizes with centriolar acetylated tubulin (PubMed:25131205). {ECO:0000269|PubMed:25131205, ECO:0000269|PubMed:27185865}.


uniprotID: Q9UHN6
geneSymbol: CEMIP2
length: 1383
go: ENSG00000135048;
snps: rs25688 rs25689 rs25689 rs25689 rs25695 rs25692 rs17057133 rs2297089 rs17475375
name:
Cell surface hyaluronidase (EC 3.2.1.35) (Cell migration-inducing hyaluronidase 2) (Transmembrane protein 2)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; hyalurononglucosaminidase activity [GO:0004415]; angiogenesis [GO:0001525]; hyaluronan catabolic process [GO:0030214]; regulation of sprouting angiogenesis [GO:1903670]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHN6-1; Sequence=Displayed; Name=2; IsoId=Q9UHN6-2; Sequence=VSP_041401; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28246172}; Single-pass type II membrane protein {ECO:0000269|PubMed:28246172}.


uniprotID: Q8N111
geneSymbol: CEND1
name: Cell cycle exit and neuronal differentiation protein 1 (BM88 antigen)
length: 149
go: ENSG00000184524;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}.
sequence:
MESRGKSASSPKPDTKVPQVTTEAKVPPAADGKAPLTKPSKKEAPAEKQQPPAAPTTAPAKKTSAKADPALLNNHSNLKPAPTVPSSPDATPEPKGPGDGAEEDEAASGGPGGRGPWSCENFNPLLVAGGVAVAAIALILGVAFLVRKK

opentargets:
integral component of membrane [GO:0016021]; adult walking behavior [GO:0007628]; cerebellar granular layer maturation [GO:0021686]; cerebellar Purkinje cell differentiation [GO:0021702]; negative regulation of cerebellar granule cell precursor proliferation [GO:0021941]; neuron differentiation [GO:0030182]; radial glia guided migration of cerebellar granule cell [GO:0021933]


uniprotID: Q6UXA7
geneSymbol: C6orf15
name: Uncharacterized protein C6orf15 (Protein STG)
length: 325
go: ENSG00000204542;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

snps:
rs2270191 rs2233974 rs2233975 rs2233976 rs2233977 rs1265053 rs2233978 rs1265054 rs2233982 rs2233984 


uniprotID: Q5SZD1
geneSymbol: C6orf141
name: Uncharacterized protein C6orf141
length: 244
go: ENSG00000197261;
snps: rs6919674 rs9473588
sequence:


uniprotID: Q9H8W2
geneSymbol: LINC00472
name: Putative uncharacterized protein encoded by LINC00472
length: 130
sequence:
MRPGSSPRAPECGAPALPRPQLDRLPARPAPSRGRGAPSLRWPAKEVGPRPQIPATCEPGKVCGASAGRRDAARPSRPRSSRVTFSTRRQPGPQRGRWGLRGGPESVRGLPHLGLRISGTPLGIFSSWSL


uniprotID: Q9NUT2
geneSymbol: ABCB8
reactome: R-HSA-1369007;
pdb: 5OCH;
length: 735
go: ENSG00000197150;
drug: DB00997;
snps: rs4148844
name:
ATP-binding cassette sub-family B member 8, mitochondrial (Mitochondrial ATP-binding cassette 1) (M-ABC1)

sequence:

opentargets:
ATP-binding cassette (ABC) transporter complex [GO:0043190]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial envelope [GO:0005740]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; transporter activity [GO:0005215]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Long; IsoId=Q9NUT2-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9NUT2-2; Sequence=VSP_000026; Note=No experimental confirmation available.; Name=3; IsoId=Q9NUT2-3; Sequence=VSP_000026, VSP_055297; Note=No experimental confirmation available.; Name=4; IsoId=Q9NUT2-4; Sequence=VSP_056745; Note=No experimental confirmation available.; Name=5; IsoId=Q9NUT2-5; Sequence=VSP_056744; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:16259955}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441, ECO:0000269|PubMed:16259955}.


uniprotID: P28330
geneSymbol: ACADL
reactome: R-HSA-77285;R-HSA-77288;R-HSA-77310;
name: Long-chain specific acyl-CoA dehydrogenase, mitochondrial (LCAD) (EC 1.3.8.8)
length: 430
go: ENSG00000115361;
snps: rs1801204 rs2286963
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; acyl-CoA dehydrogenase activity [GO:0003995]; fatty-acyl-CoA binding [GO:0000062]; flavin adenine dinucleotide binding [GO:0050660]; long-chain-acyl-CoA dehydrogenase activity [GO:0004466]; palmitoyl-CoA oxidase activity [GO:0016401]; carnitine catabolic process [GO:0042413]; carnitine metabolic process, CoA-linked [GO:0019254]; cellular lipid catabolic process [GO:0044242]; fatty acid beta-oxidation [GO:0006635]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]; long-chain fatty acid catabolic process [GO:0042758]; negative regulation of fatty acid biosynthetic process [GO:0045717]; negative regulation of fatty acid oxidation [GO:0046322]; oxidation-reduction process [GO:0055114]; positive regulation of cold-induced thermogenesis [GO:0120162]; protein homotetramerization [GO:0051289]; regulation of cholesterol metabolic process [GO:0090181]; temperature homeostasis [GO:0001659]


uniprotID: P42684
geneSymbol: ABL2
reactome: R-HSA-428890;
pdb: 2ECD;2KK1;2XYN;3GVU;3HMI;3ULR;4EIH;5NP3;5NP5;
length: 1182
go: ENSG00000143322;
drug: DB00171;DB01254;DB05184;
snps: rs55655202 rs55892721 rs17277288 rs28913889 rs28913890 rs28913891 rs28913892 rs1318056
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
name:
Tyrosine-protein kinase ABL2 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 2) (Abelson tyrosine-protein kinase 2) (Abelson-related gene protein) (Tyrosine-protein kinase ARG)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; actin filament binding [GO:0051015]; actin monomer binding [GO:0003785]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphotyrosine residue binding [GO:0001784]; protein kinase activity [GO:0004672]; protein tyrosine kinase activity [GO:0004713]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cellular protein modification process [GO:0006464]; cellular response to retinoic acid [GO:0071300]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of neuron projection development [GO:0010976]; positive regulation of oxidoreductase activity [GO:0051353]; positive regulation of phospholipase C activity [GO:0010863]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of autophagy [GO:0010506]; regulation of cell adhesion [GO:0030155]; regulation of cell motility [GO:2000145]; regulation of cell proliferation [GO:0042127]; regulation of endocytosis [GO:0030100]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=IB, 1BLCTL; IsoId=P42684-1; Sequence=Displayed; Name=2; Synonyms=IA, 1ASCTL; IsoId=P42684-2; Sequence=VSP_004961; Name=3; Synonyms=IC, 1ALCTL; IsoId=P42684-3; Sequence=VSP_017112; Name=4; Synonyms=1ASCTS; IsoId=P42684-4; Sequence=VSP_004961, VSP_021308; Name=5; Synonyms=1BLCTS; IsoId=P42684-5; Sequence=VSP_021308; Name=6; Synonyms=1BSCTL; IsoId=P42684-6; Sequence=VSP_041772; Name=7; Synonyms=1BSCTS; IsoId=P42684-7; Sequence=VSP_041772, VSP_021308; Name=10; Synonyms=1ALCTS; IsoId=P42684-10; Sequence=VSP_017112, VSP_021308; Name=8; IsoId=P42684-8; Sequence=VSP_041772, VSP_041773, VSP_041774; Note=No experimental confirmation available.; 


uniprotID: O14734
geneSymbol: ACOT8
reactome: R-HSA-193368;R-HSA-2046106;R-HSA-389887;R-HSA-390247;R-HSA-9033241;
length: 319
go: ENSG00000101473;
name:
Acyl-coenzyme A thioesterase 8 (Acyl-CoA thioesterase 8) (EC 3.1.2.27) (Choloyl-coenzyme A thioesterase) (HIV-Nef-associated acyl-CoA thioesterase) (PTE-2) (Peroxisomal acyl-coenzyme A thioester hydrolase 1) (PTE-1) (Peroxisomal long-chain acyl-CoA thioesterase 1) (Thioesterase II) (hACTE-III) (hACTEIII) (hTE)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; acetyl-CoA hydrolase activity [GO:0003986]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; choloyl-CoA hydrolase activity [GO:0033882]; CoA hydrolase activity [GO:0016289]; medium-chain acyl-CoA hydrolase activity [GO:0052815]; palmitoyl-CoA hydrolase activity [GO:0016290]; signaling receptor binding [GO:0005102]; acyl-CoA metabolic process [GO:0006637]; alpha-linolenic acid metabolic process [GO:0036109]; bile acid biosynthetic process [GO:0006699]; dicarboxylic acid catabolic process [GO:0043649]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; fatty acid catabolic process [GO:0009062]; negative regulation of CD4 biosynthetic process [GO:0045225]; peroxisome fission [GO:0016559]; protein targeting to peroxisome [GO:0006625]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10092594}. Peroxisome matrix {ECO:0000269|PubMed:10092594, ECO:0000269|PubMed:15194431}. Note=Predominantly localized in the peroxisome (PubMed:10092594, PubMed:15194431). {ECO:0000269|PubMed:10092594, ECO:0000269|PubMed:15194431}.


uniprotID: P29274
geneSymbol: ADORA2A
reactome: R-HSA-187024;R-HSA-417973;R-HSA-418555;R-HSA-5683826;
name: Adenosine receptor A2a
length: 412
go: ENSG00000128271;
snps: rs4530 rs4990
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
pdb:
1MMH;1UPE;2YDO;2YDV;3EML;3PWH;3QAK;3REY;3RFM;3UZA;3UZC;3VG9;3VGA;4EIY;4UG2;4UHR;5G53;5IU4;5IU7;5IU8;5IUA;5IUB;5JTB;5K2A;5K2B;5K2C;5K2D;5MZJ;5MZP;5N2R;5NLX;5NM2;5NM4;5OLG;5OLH;5OLO;5OLV;5OLZ;5OM1;5OM4;5UIG;5UVI;5VRA;5WF5;5WF6;6AQF;6GDG;

sequence:

opentargets:
axolemma [GO:0030673]; dendrite [GO:0030425]; endomembrane system [GO:0012505]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; intermediate filament [GO:0005882]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; presynaptic active zone [GO:0048786]; alpha-actinin binding [GO:0051393]; enzyme binding [GO:0019899]; G protein-coupled adenosine receptor activity [GO:0001609]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; type 5 metabotropic glutamate receptor binding [GO:0031802]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; apoptotic process [GO:0006915]; astrocyte activation [GO:0048143]; blood circulation [GO:0008015]; blood coagulation [GO:0007596]; cAMP biosynthetic process [GO:0006171]; cell-cell signaling [GO:0007267]; cellular defense response [GO:0006968]; cellular protein metabolic process [GO:0044267]; central nervous system development [GO:0007417]; eating behavior [GO:0042755]; excitatory postsynaptic potential [GO:0060079]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; inhibitory postsynaptic potential [GO:0060080]; locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; negative regulation of alpha-beta T cell activation [GO:0046636]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of inflammatory response [GO:0050728]; negative regulation of locomotion [GO:0040013]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of vascular permeability [GO:0043116]; neuron projection morphogenesis [GO:0048812]; phagocytosis [GO:0006909]; positive regulation of acetylcholine secretion, neurotransmission [GO:0014057]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of circadian sleep/wake cycle, sleep [GO:0045938]; positive regulation of glutamate secretion [GO:0014049]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of protein secretion [GO:0050714]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of urine volume [GO:0035810]; prepulse inhibition [GO:0060134]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of calcium ion transport [GO:0051924]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of norepinephrine secretion [GO:0014061]; regulation of synaptic vesicle exocytosis [GO:2000300]; regulation of transcription, DNA-templated [GO:0006355]; response to amphetamine [GO:0001975]; response to caffeine [GO:0031000]; sensory perception [GO:0007600]; synaptic transmission, cholinergic [GO:0007271]; synaptic transmission, dopaminergic [GO:0001963]; synaptic transmission, glutamatergic [GO:0035249]; vasodilation [GO:0042311]

drug:
DB00640;DB05009;DB05191;DB04853;DB00201;DB04932;DB00651;DB00824;DB00358;DB01303;DB00806;DB06213;DB01412;DB00277;


uniprotID: Q8TDN7
geneSymbol: ACER1
reactome: R-HSA-1660661;
length: 264
go: ENSG00000167769;
name:
Alkaline ceramidase 1 (AlkCDase 1) (Alkaline CDase 1) (EC 3.5.1.23) (Acylsphingosine deacylase 3) (N-acylsphingosine amidohydrolase 3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; ceramidase activity [GO:0102121]; dihydroceramidase activity [GO:0071633]; N-acylsphingosine amidohydrolase activity [GO:0017040]; cell differentiation [GO:0030154]; cellular response to calcium ion [GO:0071277]; ceramide catabolic process [GO:0046514]; epidermis development [GO:0008544]; keratinocyte differentiation [GO:0030216]; regulation of lipid metabolic process [GO:0019216]; response to alkaline pH [GO:0010446]; sphingolipid biosynthetic process [GO:0030148]; sphingolipid metabolic process [GO:0006665]; sphingosine biosynthetic process [GO:0046512]


uniprotID: P20309
geneSymbol: CHRM3
reactome: R-HSA-390648;R-HSA-399997;R-HSA-416476;
pdb: 2CSA;
name: Muscarinic acetylcholine receptor M3
length: 590
go: ENSG00000133019;
snps: rs2067481 rs16839102
sequence:

opentargets:
axon terminus [GO:0043679]; basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic membrane [GO:0099056]; plasma membrane [GO:0005886]; acetylcholine binding [GO:0042166]; G protein-coupled acetylcholine receptor activity [GO:0016907]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; phosphatidylinositol phospholipase C activity [GO:0004435]; signaling receptor activity [GO:0038023]; adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway [GO:0007197]; cell proliferation [GO:0008283]; cellular protein modification process [GO:0006464]; chemical synaptic transmission [GO:0007268]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; nervous system development [GO:0007399]; positive regulation of smooth muscle contraction [GO:0045987]; regulation of vascular smooth muscle contraction [GO:0003056]; saliva secretion [GO:0046541]; signal transduction [GO:0007165]; smooth muscle contraction [GO:0006939]; synaptic transmission, cholinergic [GO:0007271]

drug:
DB08897;DB05752;DB00321;DB00543;DB00517;DB01238;DB00572;DB00767;DB00835;DB00185;DB00477;DB01239;DB00568;DB00363;DB00785;DB00434;DB00496;DB01151;DB09357;DB00729;DB01231;DB00280;DB01142;DB06702;DB00986;DB00725;DB00424;DB00458;DB00332;DB01625;DB04924;DB01221;DB00408;DB00934;DB04843;DB06709;DB01403;DB00462;DB00340;DB01226;DB00622;DB00540;DB00334;DB01062;DB00383;DB01337;DB00715;DB00454;DB01085;DB01338;DB00387;DB00420;DB01069;DB00777;DB01224;DB00747;DB01591;DB00202;DB00342;DB01409;DB01036;DB00193;DB00505;DB00376;DB00726;DB00809;DB09076;DB00246;

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein.


uniprotID: Q562R1
geneSymbol: ACTBL2
name: Beta-actin-like protein 2 (Kappa-actin)
length: 376
go: ENSG00000169067;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; ATP binding [GO:0005524]


uniprotID: P31941
geneSymbol: APOBEC3A
reactome: R-HSA-72200;R-HSA-75094;
pdb: 2M65;4XXO;5KEG;5SWW;
name: DNA dC->dU-editing enzyme APOBEC-3A (A3A) (EC 3.5.4.-) (Phorbolin-1)
length: 199
go: ENSG00000128383;
snps: rs17000556
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
sequence:
MEASPASGPRHLMDPHIFTSNFNNGIGRHKTYLCYEVERLDNGTSVKMDQHRGFLHNQAKNLLCGFYGRHAELRFLDLVPSLQLDPAQIYRVTWFISWSPCFSWGCAGEVRAFLQENTHVRLRIFAARIYDYDPLYKEALQMLRDAGAQVSIMTYDEFKHCWDTFVDHQGCPFQPWDGLDEHSQALSGRLRAILQNQGN

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cytidine deaminase activity [GO:0004126]; deoxycytidine deaminase activity [GO:0047844]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cellular response to xenobiotic stimulus [GO:0071466]; clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine [GO:0044356]; cytidine to uridine editing [GO:0016554]; defense response to virus [GO:0051607]; DNA cytosine deamination [GO:0070383]; DNA demethylation [GO:0080111]; innate immune response [GO:0045087]; negative regulation of transposition [GO:0010529]; negative regulation of viral genome replication [GO:0045071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; Synonyms=Phorbolin-1; IsoId=P31941-1; Sequence=Displayed; Note=Enzymatically active.; Name=2; IsoId=P31941-2; Sequence=VSP_041723; Note=Enzymatically active.; 


uniprotID: P22303
geneSymbol: ACHE
reactome: R-HSA-112311;R-HSA-1483191;R-HSA-422085;
name: Acetylcholinesterase (AChE) (EC 3.1.1.7)
length: 614
go: ENSG00000087085;
snps: rs17881553 rs17885778 rs8286 rs1799805
pdb:
1B41;1F8U;1PUV;1PUW;1VZJ;2CLJ;2X8B;3LII;4BDT;4EY4;4EY5;4EY6;4EY7;4EY8;4M0E;4M0F;4PQE;5FOQ;5FPQ;5HF5;5HF6;5HF8;5HF9;5HFA;

sequence:

opentargets:
anchored component of membrane [GO:0031225]; basement membrane [GO:0005604]; cell junction [GO:0030054]; cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; neuromuscular junction [GO:0031594]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; synapse [GO:0045202]; synaptic cleft [GO:0043083]; acetylcholine binding [GO:0042166]; acetylcholinesterase activity [GO:0003990]; amyloid-beta binding [GO:0001540]; carboxylic ester hydrolase activity [GO:0052689]; cholinesterase activity [GO:0004104]; collagen binding [GO:0005518]; hydrolase activity [GO:0016787]; laminin binding [GO:0043236]; protein homodimerization activity [GO:0042803]; protein self-association [GO:0043621]; serine hydrolase activity [GO:0017171]; acetylcholine catabolic process [GO:0006581]; acetylcholine catabolic process in synaptic cleft [GO:0001507]; amyloid precursor protein metabolic process [GO:0042982]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; DNA replication [GO:0006260]; muscle organ development [GO:0007517]; negative regulation of synaptic transmission, cholinergic [GO:0032223]; nervous system development [GO:0007399]; neurotransmitter biosynthetic process [GO:0042136]; neurotransmitter receptor biosynthetic process [GO:0045212]; osteoblast development [GO:0002076]; phosphatidylcholine biosynthetic process [GO:0006656]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of protein secretion [GO:0050714]; protein tetramerization [GO:0051262]; receptor internalization [GO:0031623]; regulation of receptor recycling [GO:0001919]; response to wounding [GO:0009611]; retina development in camera-type eye [GO:0060041]; synapse assembly [GO:0007416]

drug:
DB04614;DB04615;DB02404;DB08357;DB03814;DB04556;DB03128;DB01122;DB03283;DB00122;DB01245;DB00944;DB08996;DB00449;DB00843;DB01010;DB01364;DB00674;DB00483;DB04864;DB03348;DB05510;DB00677;DB00358;DB09543;DB02845;DB02825;DB04021;DB00805;DB01805;DB03740;DB01400;DB04892;DB00981;DB00733;DB02166;DB00545;DB00989;DB00382;DB04616;DB01199;DB04859;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=T; Synonyms=ACHE-S, synaptic; IsoId=P22303-1; Sequence=Displayed; Name=H; Synonyms=ACHE-E, erythrocytic, E4-E5; IsoId=P22303-2; Sequence=VSP_001457; Name=R; Synonyms=ACHE-R, readthrough; IsoId=P22303-4; Sequence=VSP_035569, VSP_035570; Name=4; IsoId=P22303-3; Sequence=VSP_035568; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse {ECO:0000269|PubMed:11985878, ECO:0000269|PubMed:1748670}. Secreted {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform T: Nucleus. Note=Only observed in apoptotic nuclei.; SUBCELLULAR LOCATION: Isoform H: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}; Extracellular side {ECO:0000250}.


uniprotID: P30484
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 4LCY;
name: HLA class I histocompatibility antigen, B-46 alpha chain (Bw-46) (MHC class I antigen B*46)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9NR19
geneSymbol: ACSS2
reactome: R-HSA-2151201;R-HSA-71384;
length: 701
go: ENSG00000131069;
drug: DB00131;DB00171;DB09395;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Acetyl-coenzyme A synthetase, cytoplasmic (EC 6.2.1.1) (Acetate--CoA ligase) (Acetyl-CoA synthetase) (ACS) (AceCS) (Acyl-CoA synthetase short-chain family member 2) (Acyl-activating enzyme)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial matrix [GO:0005759]; nucleoplasm [GO:0005654]; acetate-CoA ligase activity [GO:0003987]; AMP binding [GO:0016208]; ATP binding [GO:0005524]; acetate biosynthetic process [GO:0019413]; acetyl-CoA biosynthetic process from acetate [GO:0019427]; ethanol oxidation [GO:0006069]; lipid biosynthetic process [GO:0008610]; propionate biosynthetic process [GO:0019542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NR19-1; Sequence=Displayed; Name=2; IsoId=Q9NR19-2; Sequence=VSP_046376; Note=No experimental confirmation available.; 


uniprotID: Q9NRK6
geneSymbol: ABCB10
reactome: R-HSA-1369007;
pdb: 3ZDQ;4AYT;4AYW;4AYX;
length: 738
go: ENSG00000135776;
snps: rs4148756 rs17584642 rs35698797
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
name:
ATP-binding cassette sub-family B member 10, mitochondrial (ATP-binding cassette transporter 10) (ABC transporter 10 protein) (Mitochondrial ATP-binding cassette 2) (M-ABC2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of mitochondrial membrane [GO:0032592]; mitochondrial inner membrane [GO:0005743]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; protein homodimerization activity [GO:0042803]; transporter activity [GO:0005215]; mitochondrial transport [GO:0006839]


uniprotID: P36544
geneSymbol: CHRNA7
reactome: R-HSA-629594;
pdb: 2MAW;5AFH;5AFJ;5AFK;5AFL;5AFM;5AFN;
name: Neuronal acetylcholine receptor subunit alpha-7
length: 502
go: ENSG00000175344;
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; postsynapse [GO:0098794]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; acetylcholine binding [GO:0042166]; acetylcholine receptor activity [GO:0015464]; acetylcholine-gated cation-selective channel activity [GO:0022848]; amyloid-beta binding [GO:0001540]; calcium channel activity [GO:0005262]; chloride channel regulator activity [GO:0017081]; ion channel activity [GO:0005216]; ligand-gated ion channel activity [GO:0015276]; protein homodimerization activity [GO:0042803]; toxic substance binding [GO:0015643]; acetylcholine receptor signaling pathway [GO:0095500]; activation of MAPK activity [GO:0000187]; calcium ion transport [GO:0006816]; cellular calcium ion homeostasis [GO:0006874]; chemical synaptic transmission [GO:0007268]; cognition [GO:0050890]; dendrite arborization [GO:0140059]; dendritic spine organization [GO:0097061]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; learning or memory [GO:0007611]; memory [GO:0007613]; modulation of excitatory postsynaptic potential [GO:0098815]; negative regulation of amyloid-beta formation [GO:1902430]; negative regulation of tumor necrosis factor production [GO:0032720]; nervous system process [GO:0050877]; positive regulation of amyloid-beta formation [GO:1902004]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell proliferation [GO:0008284]; positive regulation of CoA-transferase activity [GO:1905920]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of protein metabolic process [GO:0051247]; positive regulation of protein phosphorylation [GO:0001934]; regulation of amyloid fibril formation [GO:1905906]; regulation of amyloid precursor protein catabolic process [GO:1902991]; regulation of membrane potential [GO:0042391]; regulation of neuron death [GO:1901214]; response to acetylcholine [GO:1905144]; response to amyloid-beta [GO:1904645]; response to hypoxia [GO:0001666]; response to nicotine [GO:0035094]; sensory processing [GO:0050893]; short-term memory [GO:0007614]; signal transduction [GO:0007165]; synapse organization [GO:0050808]; synaptic transmission, cholinergic [GO:0007271]

drug:
DB01351;DB01352;DB01483;DB01496;DB00237;DB00241;DB01353;DB09028;DB00514;DB00898;DB00674;DB05708;DB01354;DB01355;DB00463;DB00849;DB00184;DB00312;DB01174;DB00794;DB05740;DB00418;DB00306;DB00599;DB01273;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P36544-1; Sequence=Displayed; Name=2; IsoId=P36544-2; Sequence=VSP_043019; Note=No experimental confirmation available.; Name=3; IsoId=P36544-3; Sequence=VSP_058107, VSP_058108; 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: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.


uniprotID: Q9NUZ1
geneSymbol: ACOXL
reactome: R-HSA-389887;
name: Acyl-coenzyme A oxidase-like protein (Acyl-CoA oxidase-like protein) (EC 1.3.3.-)
length: 547
go: ENSG00000153093;
snps: rs1554005 rs17041850
sequence:

opentargets:
peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; acyl-CoA oxidase activity [GO:0003997]; fatty acid binding [GO:0005504]; flavin adenine dinucleotide binding [GO:0050660]; pristanoyl-CoA oxidase activity [GO:0016402]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; lipid homeostasis [GO:0055088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NUZ1-1; Sequence=Displayed; Name=2; IsoId=Q9NUZ1-2; Sequence=VSP_028239; Name=3; IsoId=Q9NUZ1-3; Sequence=VSP_028237, VSP_028238; Name=4; IsoId=Q9NUZ1-4; Sequence=VSP_028239, VSP_046900; 


uniprotID: Q9NP78
geneSymbol: ABCB9
reactome: R-HSA-382556;
length: 766
go: ENSG00000150967;
snps: rs3803002
name:
ATP-binding cassette sub-family B member 9 (ATP-binding cassette transporter 9) (ABC transporter 9 protein) (hABCB9) (TAP-like protein) (TAPL)

sequence:

opentargets:
integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; oligopeptide-transporting ATPase activity [GO:0015421]; peptide-transporting ATPase activity [GO:0015440]; protein homodimerization activity [GO:0042803]; transmembrane transporter activity [GO:0022857]; peptide transport [GO:0015833]; protein transport [GO:0015031]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=12A, c1-l; IsoId=Q9NP78-1; Sequence=Displayed; Name=2; Synonyms=c1-s; IsoId=Q9NP78-2; Sequence=VSP_000027; Name=3; IsoId=Q9NP78-3; Sequence=VSP_000029, VSP_000030; Note=No experimental confirmation available.; Name=4; Synonyms=12B; IsoId=Q9NP78-5; Sequence=VSP_041884, VSP_041886; Name=5; Synonyms=12C; IsoId=Q9NP78-6; Sequence=VSP_041885; Name=6; IsoId=Q9NP78-7; Sequence=VSP_044884; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:10748049, ECO:0000269|PubMed:15577206, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:17977821, ECO:0000269|PubMed:18175933, ECO:0000269|PubMed:18952056, ECO:0000269|PubMed:20377823, ECO:0000269|PubMed:21212514}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441, ECO:0000269|PubMed:10748049, ECO:0000269|PubMed:15577206, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:17977821, ECO:0000269|PubMed:18175933, ECO:0000269|PubMed:18952056, ECO:0000269|PubMed:20377823, ECO:0000269|PubMed:21212514}. Note=May be located in membrane rafts.


