# annotation

uniprotID: Q99518
geneSymbol: FMO2
reactome: R-HSA-217271;
length: 471
name:
Dimethylaniline monooxygenase [N-oxide-forming] 2 (EC 1.14.13.8) (Dimethylaniline oxidase 2) (FMO 1B1) (Pulmonary flavin-containing monooxygenase 2) (FMO 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; organelle membrane [GO:0031090]; flavin adenine dinucleotide binding [GO:0050660]; monooxygenase activity [GO:0004497]; N,N-dimethylaniline monooxygenase activity [GO:0004499]; NADP binding [GO:0050661]; drug metabolic process [GO:0017144]; NADP metabolic process [GO:0006739]; NADPH oxidation [GO:0070995]; organic acid metabolic process [GO:0006082]; oxygen metabolic process [GO:0072592]; toxin metabolic process [GO:0009404]; xenobiotic metabolic process [GO:0006805]

snps:
rs2020870 rs55708639 rs28745274 rs2020860 rs2307492 rs2020862 rs28369895 rs2020863 rs28369899 rs2020865 

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250|UniProtKB:P17635}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P17635}.


uniprotID: Q96KS9
geneSymbol: FAM167A
name: Protein FAM167A
length: 214
go: ENSG00000154319;
snps: rs3021513 rs3021512
sequence:


uniprotID: Q5VUD6
geneSymbol: FAM69B
name: Protein FAM69B
length: 431
go: ENSG00000165716;
opentargets: endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]
snps: rs945384
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VUD6-1; Sequence=Displayed; Name=2; IsoId=Q5VUD6-2; Sequence=VSP_025405; 


uniprotID: Q8TCE6
geneSymbol: FAM45A
name: Protein FAM45A
length: 357
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TCE6-1; Sequence=Displayed; Name=2; IsoId=Q8TCE6-2; Sequence=VSP_038301; Note=No experimental confirmation available.; 


uniprotID: Q99504
geneSymbol: EYA3
reactome: R-HSA-5693565;
name: Eyes absent homolog 3 (EC 3.1.3.48)
length: 573
go: ENSG00000158161;
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; metal ion binding [GO:0046872]; protein tyrosine phosphatase activity [GO:0004725]; anatomical structure development [GO:0048856]; anatomical structure morphogenesis [GO:0009653]; double-strand break repair [GO:0006302]; histone dephosphorylation [GO:0016576]; multicellular organism development [GO:0007275]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; positive regulation of DNA repair [GO:0045739]; response to ionizing radiation [GO:0010212]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q99504-1; Sequence=Displayed; Name=2; IsoId=Q99504-2; Sequence=VSP_001493; Note=No experimental confirmation available.; Name=3; IsoId=Q99504-3; Sequence=VSP_054518, VSP_054519; Note=No experimental confirmation available.; Name=4; IsoId=Q99504-4; Sequence=VSP_054530; Note=No experimental confirmation available.; Name=5; IsoId=Q99504-5; Sequence=VSP_054518; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P97480}. Nucleus {ECO:0000269|PubMed:19234442}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:19234442). With decreasing efficiency, translocalized to the nucleus by SIX2 and SIX5, and SIX4, respectively (By similarity). {ECO:0000250|UniProtKB:P97480, ECO:0000269|PubMed:19234442}.


uniprotID: Q8NDB6
geneSymbol: FAM156A; FAM156B
name: Protein FAM156A/FAM156B (Transmembrane protein 29/29B)
length: 213
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear envelope [GO:0005635]; methylated histone binding [GO:0035064]


uniprotID: Q3B820
geneSymbol: FAM161A
name: Protein FAM161A
length: 660
go: ENSG00000170264;
snps: rs11125895 rs17513722 rs6733774
sequence:

opentargets:
astral microtubule [GO:0000235]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; mitotic spindle [GO:0072686]; mitotic spindle pole [GO:0097431]; photoreceptor connecting cilium [GO:0032391]; photoreceptor inner segment [GO:0001917]; spindle microtubule [GO:0005876]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; cilium assembly [GO:0060271]; cilium organization [GO:0044782]; positive regulation of protein acetylation [GO:1901985]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3B820-1; Sequence=Displayed; Name=2; IsoId=Q3B820-2; Sequence=VSP_032935; Note=No experimental confirmation available.; Name=3; IsoId=Q3B820-3; Sequence=VSP_039126; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22940612}. Cell projection, cilium {ECO:0000269|PubMed:22940612}. Note=Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium.


uniprotID: P05160
geneSymbol: F13B
reactome: R-HSA-140875;
length: 661
go: ENSG00000143278;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:26247044, ECO:0000269|PubMed:4405643}.
name:
Coagulation factor XIII B chain (Fibrin-stabilizing factor B subunit) (Protein-glutamine gamma-glutamyltransferase B chain) (Transglutaminase B chain)

sequence:

opentargets:
extracellular region [GO:0005576]; blood coagulation [GO:0007596]; blood coagulation, fibrin clot formation [GO:0072378]; negative regulation of cellular protein catabolic process [GO:1903363]

snps:
rs1232302447 rs6002 rs753009140 rs6003 rs757094432 rs145637157 rs778826479 rs17514281 rs5999 rs5991 rs121913075 rs17549671 rs6001 rs6000 


uniprotID: Q92935
geneSymbol: EXTL1
reactome: R-HSA-381038;
length: 676
go: ENSG00000158008;
snps: rs34277678 rs2736831
name:
Exostosin-like 1 (EC 2.4.1.224) (Exostosin-L) (Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Multiple exostosis-like protein)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity [GO:0050508]; IRE1-mediated unfolded protein response [GO:0036498]; protein glycosylation [GO:0006486]; skeletal system development [GO:0001501]


uniprotID: Q5JX71
geneSymbol: FAM209A
name: Protein FAM209A
length: 171
go: ENSG00000124103;
snps: rs707554 rs1054343 rs1054349 rs1054358 rs1054361
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MWTLKSSLVLLLCLTCSYAFMFSSLRQKTSEPQGKVQYGEHFRIRQNLPEHTQGWLGSKWLWLLFVVVPFVILQCQRDSEKNKEQSPPGLRGGQLHSPLKKKRNASPNKDCAFNTLMELEVELMKFVSKVRNLKRAMATGSGSNLRLRKSEMPADPYHVTICEIWGEESSS

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]


uniprotID: Q6J272
geneSymbol: FAM166A
name: Protein FAM166A
length: 317
go: ENSG00000188163;
opentargets: nucleus [GO:0005634]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6J272-1; Sequence=Displayed; Name=2; IsoId=Q6J272-2; Sequence=VSP_032470, VSP_032471; 


uniprotID: Q8TBR7
geneSymbol: FAM57A
name: Protein FAM57A (Protein CT120)
length: 257
go: ENSG00000167695;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=CT120A; IsoId=Q8TBR7-2; Sequence=Displayed; Name=1; Synonyms=CT120B; IsoId=Q8TBR7-1; Sequence=VSP_008149; 


uniprotID: Q8IXS8
geneSymbol: FAM126B
name: Protein FAM126B
length: 530
go: ENSG00000155744;
sequence:

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; phosphatidylinositol phosphorylation [GO:0046854]; protein localization to plasma membrane [GO:0072659]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9BYI3}. Cell membrane {ECO:0000250|UniProtKB:Q9BYI3}.


uniprotID: Q5RGS3
geneSymbol: FAM74A1
name: Protein FAM74A1
length: 127
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MWRELRGCPGGDVETAQRLSQRRRGKSSEAVPEKTWRAQRMSQRRRGESSEAVPEKTWKELRNSETVPEKTWKQLRRCLQEDVERVQRLSLLLHLAVFLWIIIAINFSNSGVKSQSSTYLPSGKILK


uniprotID: Q6ZVS7
geneSymbol: FAM183BP
name: Protein FAM183BP (Testis highly expressed protein 6)
length: 135
opentargets: cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q5NC57}.
sequence:
MAGHPKERVVTDEVHQNQILRELYLKELRTQKLHTQYHVNPLRKVHRITRKPMSWHDNLEEPADARFLNLIHHAAQGPTKKYPEAQTENQEIGWDSEALVDPERRDHRMNHFRVYSDITLYKAKMWSLGEDDRHK


uniprotID: P31512
geneSymbol: FMO4
length: 558
go: ENSG00000076258;
snps: rs72549338 rs3737925 rs1042767 rs61342270 rs45599742 rs45487792 rs45528740
name:
Dimethylaniline monooxygenase [N-oxide-forming] 4 (EC 1.14.13.8) (Dimethylaniline oxidase 4) (Hepatic flavin-containing monooxygenase 4) (FMO 4)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; flavin adenine dinucleotide binding [GO:0050660]; monooxygenase activity [GO:0004497]; N,N-dimethylaniline monooxygenase activity [GO:0004499]; NADP binding [GO:0050661]; drug catabolic process [GO:0042737]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250|UniProtKB:Q8K4B7}; Single-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8K4B7}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q99502
geneSymbol: EYA1
reactome: R-HSA-5693565;
name: Eyes absent homolog 1 (EC 3.1.3.16) (EC 3.1.3.48)
length: 592
go: ENSG00000104313;
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; metal ion binding [GO:0046872]; protein tyrosine phosphatase activity [GO:0004725]; RNA binding [GO:0003723]; anatomical structure development [GO:0048856]; anatomical structure morphogenesis [GO:0009653]; aorta morphogenesis [GO:0035909]; branching involved in ureteric bud morphogenesis [GO:0001658]; cochlea morphogenesis [GO:0090103]; double-strand break repair [GO:0006302]; embryonic skeletal system morphogenesis [GO:0048704]; histone dephosphorylation [GO:0016576]; mesodermal cell fate specification [GO:0007501]; metanephros development [GO:0001656]; middle ear morphogenesis [GO:0042474]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; neuron fate specification [GO:0048665]; otic vesicle morphogenesis [GO:0071600]; outer ear morphogenesis [GO:0042473]; outflow tract morphogenesis [GO:0003151]; pattern specification process [GO:0007389]; pharyngeal system development [GO:0060037]; positive regulation of DNA repair [GO:0045739]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of secondary heart field cardioblast proliferation [GO:0072513]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein sumoylation [GO:0016925]; regulation of neuron differentiation [GO:0045664]; response to ionizing radiation [GO:0010212]; semicircular canal morphogenesis [GO:0048752]; sensory perception of sound [GO:0007605]; striated muscle tissue development [GO:0014706]

snps:
rs1445404 rs561111097 rs191838840 rs121909198 rs121909199 rs121909196 rs121909200 rs121909201 rs112340154 rs121909197 rs397517920 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=EYA1A; IsoId=Q99502-1; Sequence=Displayed; Name=EYA1B; IsoId=Q99502-2; Sequence=VSP_001486; Name=EYA1D; IsoId=Q99502-3; Sequence=VSP_045793, VSP_045794; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12500905}. Nucleus {ECO:0000269|PubMed:12500905, ECO:0000269|PubMed:19234442}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000269|PubMed:19234442}.


uniprotID: Q8WUF8
geneSymbol: FAM172A
name: Cotranscriptional regulator FAM172A (Protein FAM172A)
length: 416
go: ENSG00000113391;
snps: rs17083426 rs767629211
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; chromatin silencing by small RNA [GO:0031048]; mRNA processing [GO:0006397]; neural crest cell development [GO:0014032]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8WUF8-1; Sequence=Displayed; Name=2; IsoId=Q8WUF8-2; Sequence=VSP_031749; Note=No experimental confirmation available.; Name=3; IsoId=Q8WUF8-3; Sequence=VSP_043313; Note=No experimental confirmation available.; Name=4; IsoId=Q8WUF8-4; Sequence=VSP_043313, VSP_043314; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q3TNH5}. Cytoplasm {ECO:0000250|UniProtKB:Q3TNH5}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q3TNH5}.


uniprotID: Q4KMX7
geneSymbol: FAM106A
name: Protein FAM106A
length: 169
sequence:
MLPSTMFLVHLPLSTNRLHCLRNTSLESYLCSFVHLNHPLHISDRVILISLHEAVRFSFAFSFPRGTLSIAYCLMSSVSTSSEAIMSTELLANYCHSSLHVCICISSFPNETGNHDSFPGAVVSISDQPTDQCKLAAKELPLRNLLECRFFDCMGEEDLINLGVIGTER


uniprotID: A6NE21
geneSymbol: FAM90A18P; FAM90A19P
name: Putative protein FAM90A18P/FAM90A19P
length: 464
sequence:


uniprotID: P0C2L3
geneSymbol: FAM163B
name: Protein FAM163B
length: 166
go: ENSG00000196990;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MTAGTVVITGGILATVILLCIIAVLCYCRLQYYCCKKDESEEDEEEPDFAVHSHLPPLHSNRNLVLTNGPALYPTASTSFSQKSPQARALCRSCSHCEPPTFFLQEPPEEEEDVLNGGERVLYKSVSQEDVELPPGGFGGLQALNPNRLSAMREAFARSRSISTDV


uniprotID: P58658
geneSymbol: EVA1C
name: Protein eva-1 homolog C (Protein FAM176C) (SUE21)
length: 441
go: ENSG00000166979;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; heparin binding [GO:0008201]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P58658-1; Sequence=Displayed; Name=2; IsoId=P58658-2; Sequence=VSP_003103, VSP_003104; Name=3; IsoId=P58658-3; Sequence=VSP_055198; Note=No experimental confirmation available.; 


uniprotID: Q7L5A8
geneSymbol: FA2H
reactome: R-HSA-1660661;
name: Fatty acid 2-hydroxylase (EC 1.-.-.-) (Fatty acid alpha-hydroxylase)
length: 372
go: ENSG00000103089;
snps: rs121918217 rs35874850 rs387907040 rs387907039
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; fatty acid alpha-hydroxylase activity [GO:0080132]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; central nervous system myelin maintenance [GO:0032286]; fatty acid biosynthetic process [GO:0006633]; fatty acid metabolic process [GO:0006631]; lipid modification [GO:0030258]; peripheral nervous system myelin maintenance [GO:0032287]; regulation of cell proliferation [GO:0042127]; regulation of hair cycle [GO:0042634]; sebaceous gland cell differentiation [GO:0001949]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L5A8-1; Sequence=Displayed; Name=2; IsoId=Q7L5A8-2; Sequence=VSP_056135; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15337768}; Multi-pass membrane protein {ECO:0000269|PubMed:15337768}. Microsome membrane {ECO:0000269|PubMed:15337768}; Multi-pass membrane protein {ECO:0000269|PubMed:15337768}.


uniprotID: Q96LP2
geneSymbol: FAM81B
name: Protein FAM81B
length: 452
opentargets: nucleus [GO:0005634]
snps: rs10042271 rs11555275 rs1541797 rs6878669
sequence:


uniprotID: Q86UY5
geneSymbol: FAM83A
pdb: 4URJ;
name: Protein FAM83A (Tumor antigen BJ-TSA-9) (Tumor-specific gene expressed in prostate protein)
length: 434
go: ENSG00000147689;
snps: rs7813708
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:22886303}.
sequence:

opentargets:
cytoplasm [GO:0005737]; phosphatidylinositol 3-kinase regulatory subunit binding [GO:0036312]; protein kinase binding [GO:0019901]; cell proliferation [GO:0008283]; epidermal growth factor receptor signaling pathway [GO:0007173]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=TSGP-L; IsoId=Q86UY5-1; Sequence=Displayed; Name=2; Synonyms=TSGP-S; IsoId=Q86UY5-2; Sequence=VSP_025187, VSP_025190, VSP_025191; Name=3; IsoId=Q86UY5-3; Sequence=VSP_025188, VSP_025189; 


uniprotID: Q96B26
geneSymbol: EXOSC8
reactome: R-HSA-380994;R-HSA-429958;R-HSA-450385;R-HSA-450513;R-HSA-450604;R-HSA-6791226;
pdb: 2NN6;6D6Q;6D6R;6H25;
length: 276
go: ENSG00000120699;
snps: rs606231285 rs36027220
name:
Exosome complex component RRP43 (Exosome component 8) (Opa-interacting protein 2) (OIP-2) (Ribosomal RNA-processing protein 43) (p9)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic exosome (RNase complex) [GO:0000177]; cytosol [GO:0005829]; exosome (RNase complex) [GO:0000178]; nuclear exosome (RNase complex) [GO:0000176]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; AU-rich element binding [GO:0017091]; identical protein binding [GO:0042802]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000467]; nuclear mRNA surveillance [GO:0071028]; nuclear polyadenylation-dependent mRNA catabolic process [GO:0071042]; nuclear polyadenylation-dependent rRNA catabolic process [GO:0071035]; nuclear polyadenylation-dependent tRNA catabolic process [GO:0071038]; nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' [GO:0034427]; regulation of mRNA stability [GO:0043488]; rRNA catabolic process [GO:0016075]; rRNA processing [GO:0006364]; U1 snRNA 3'-end processing [GO:0034473]; U4 snRNA 3'-end processing [GO:0034475]; U5 snRNA 3'-end processing [GO:0034476]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17545563}. Nucleus {ECO:0000269|PubMed:17545563}. Nucleus, nucleolus {ECO:0000250}.


uniprotID: Q8N8A8
geneSymbol: FAM169B
name: Protein FAM169B
length: 192
snps: rs12101356
sequence:
MKVQSFGERVVLFILNAIIFGRLERNLDDDDMFFLPHSVKEQAKILWRRGAAVGFYTTKMKGRLCGDGTGACYLLPVFDTVFIRRKHWHRGLGTAMLRDFCETFPEDEALGVSCSMSPAMYQAHPGNSEDVSRHARTSQNDRPRQPAPGDGSKERMCGEELEDTKDDPECGVEEEDAGLAGQPPGKLTRSSP


uniprotID: Q9P2D6
geneSymbol: FAM135A
name: Protein FAM135A
length: 1515
go: ENSG00000082269;
opentargets: cellular lipid metabolic process [GO:0044255]
snps: rs9455142 rs16869301 rs2747701
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P2D6-1; Sequence=Displayed; Name=2; IsoId=Q9P2D6-2; Sequence=VSP_030227; Name=3; IsoId=Q9P2D6-3; Sequence=VSP_030225, VSP_030226, VSP_030227; Name=4; IsoId=Q9P2D6-4; Sequence=VSP_030230; Note=No experimental confirmation available.; 


uniprotID: Q9H098
geneSymbol: FAM107B
name: Protein FAM107B
length: 131
go: ENSG00000065809;
sequence:
MAEPDYIEDDNPELIRPQKLINPVKTSRNHQDLHRELLMNQKRGLAPQNKPELQKVMEKRKRDQVIKQKEEEAQKKKSDLEIELLKRQQKLEQLELEKQKLQEEQENAPEFVKVKGNLRRTGQEVAQAQES

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H098-1; Sequence=Displayed; Name=2; IsoId=Q9H098-2; Sequence=VSP_037527; Note=No experimental confirmation available.; 


uniprotID: Q5U5X8
geneSymbol: FAM222A
name: Protein FAM222A
length: 452
go: ENSG00000139438;
sequence:


uniprotID: Q9BQ89
geneSymbol: FAM110A
name: Protein FAM110A
length: 295
go: ENSG00000125898;
opentargets: cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; spindle pole [GO:0000922]
snps: rs6055290
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17499476}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17499476}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:17499476}. Note=Distributed throughout the cytoplasm during mitosis, accumulating at spindle poles.


uniprotID: Q8N0U4
geneSymbol: FAM185A
name: Protein FAM185A
length: 392
go: ENSG00000222011;
opentargets: cytosol [GO:0005829]
snps: rs28695887
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N0U4-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8N0U4-2; Sequence=VSP_031804; 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=Q8N0U4-3; Sequence=VSP_037078; 


uniprotID: P00748
geneSymbol: F12
reactome: R-HSA-140837;
pdb: 4BDW;4BDX;4XDE;4XE4;6B74;6B77;
length: 615
go: ENSG00000131187;
drug: DB06404;DB09228;DB06689;
location: SUBCELLULAR LOCATION: Secreted.
name:
Coagulation factor XII (EC 3.4.21.38) (Hageman factor) (HAF) [Cleaved into: Coagulation factor XIIa heavy chain; Beta-factor XIIa part 1; Coagulation factor XIIa light chain (Beta-factor XIIa part 2)]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; calcium ion binding [GO:0005509]; misfolded protein binding [GO:0051787]; serine-type endopeptidase activity [GO:0004252]; blood coagulation, intrinsic pathway [GO:0007597]; Factor XII activation [GO:0002542]; fibrinolysis [GO:0042730]; innate immune response [GO:0045087]; plasma kallikrein-kinin cascade [GO:0002353]; positive regulation of blood coagulation [GO:0030194]; positive regulation of fibrinolysis [GO:0051919]; positive regulation of plasminogen activation [GO:0010756]; protein autoprocessing [GO:0016540]; protein processing [GO:0016485]; proteolysis [GO:0006508]; response to misfolded protein [GO:0051788]; zymogen activation [GO:0031638]

snps:
rs118204455 rs17876030 rs118204456 rs118204456 rs2230939 rs118204454 rs865853663 rs932430490 rs17876034 rs766505234 rs1157280571 rs17876035 


uniprotID: Q8WU58
geneSymbol: FAM222B
name: Protein FAM222B
length: 562
go: ENSG00000173065;
opentargets: nucleoplasm [GO:0005654]
snps: rs2043031 rs36029715
sequence:


uniprotID: Q6UXP7
geneSymbol: FAM151B
name: Protein FAM151B
length: 276
go: ENSG00000152380;
snps: rs369998
sequence:


uniprotID: Q8TBF8
geneSymbol: FAM81A
name: Protein FAM81A
length: 368
go: ENSG00000157470;
sequence:


uniprotID: Q9H0X4
geneSymbol: FAM234A
name: Protein FAM234A (Protein ITFG3)
length: 552
go: ENSG00000167930;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0X4-1; Sequence=Displayed; Name=2; IsoId=Q9H0X4-2; Sequence=VSP_020121, VSP_020122; Note=No experimental confirmation available.; 


uniprotID: O60825
geneSymbol: PFKFB2
reactome: R-HSA-70171;
pdb: 5HTK;
length: 505
go: ENSG00000123836;
name:
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 (6PF-2-K/Fru-2,6-P2ase 2) (PFK/FBPase 2) (6PF-2-K/Fru-2,6-P2ase heart-type isozyme) [Includes: 6-phosphofructo-2-kinase (EC 2.7.1.105); Fructose-2,6-bisphosphatase (EC 3.1.3.46)]

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 6-phosphofructo-2-kinase activity [GO:0003873]; ATP binding [GO:0005524]; fructose-2,6-bisphosphate 2-phosphatase activity [GO:0004331]; protein kinase binding [GO:0019901]; fructose 2,6-bisphosphate metabolic process [GO:0006003]; fructose metabolic process [GO:0006000]; glucose catabolic process [GO:0006007]; glycolytic process [GO:0006096]; lactate metabolic process [GO:0006089]; positive regulation of glucokinase activity [GO:0033133]; positive regulation of glycolytic process [GO:0045821]; positive regulation of insulin secretion [GO:0032024]; response to glucose [GO:0009749]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60825-1; Sequence=Displayed; Name=2; IsoId=O60825-2; Sequence=VSP_004675; 


uniprotID: Q03591
geneSymbol: CFHR1
reactome: R-HSA-977606;
pdb: 3ZD2;4MUC;
name: Complement factor H-related protein 1 (FHR-1) (H factor-like protein 1) (H-factor-like 1) (H36)
length: 330
go: ENSG00000244414;
snps: rs425757 rs410232 rs388862 rs16840561
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; protein-containing complex [GO:0032991]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; complement activation [GO:0006956]; negative regulation of protein binding [GO:0032091]; positive regulation of cytolysis [GO:0045919]; regulation of complement activation [GO:0030449]


uniprotID: Q16658
geneSymbol: FSCN1
reactome: R-HSA-6785807;
pdb: 1DFC;3LLP;3P53;4GOV;4GOY;4GP0;4GP3;6B0T;
name: Fascin (55 kDa actin-bundling protein) (Singed-like protein) (p55)
length: 493
go: ENSG00000075618;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell projection membrane [GO:0031253]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; filopodium [GO:0030175]; growth cone [GO:0030426]; invadopodium [GO:0071437]; lamellipodium [GO:0030027]; microspike [GO:0044393]; microvillus [GO:0005902]; myelin sheath [GO:0043209]; podosome [GO:0002102]; ruffle [GO:0001726]; stress fiber [GO:0001725]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; drug binding [GO:0008144]; protein binding, bridging [GO:0030674]; RNA binding [GO:0003723]; actin cytoskeleton organization [GO:0030036]; actin filament bundle assembly [GO:0051017]; cell migration [GO:0016477]; cell motility [GO:0048870]; cell proliferation [GO:0008283]; cell-cell junction assembly [GO:0007043]; cytokine-mediated signaling pathway [GO:0019221]; establishment of apical/basal cell polarity [GO:0035089]; establishment or maintenance of cell polarity [GO:0007163]; microspike assembly [GO:0030035]; positive regulation of extracellular matrix disassembly [GO:0090091]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of podosome assembly [GO:0071803]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of microvillus assembly [GO:0032534]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:21706053, ECO:0000269|PubMed:9571235}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:3525578, ECO:0000269|PubMed:9571235}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:21706053}. Cell projection, filopodium {ECO:0000269|PubMed:20137952, ECO:0000269|PubMed:3525578}. Cell projection, invadopodium {ECO:0000269|PubMed:20137952}. Cell projection, microvillus {ECO:0000269|PubMed:9571235}. Cell junction {ECO:0000269|PubMed:9571235}. Note=Colocalized with RUFY3 and F-actin at filipodia of the axonal growth cone. Colocalized with DBN1 and F-actin at the transitional domain of the axonal growth cone (By similarity). {ECO:0000250|UniProtKB:Q61553, ECO:0000269|PubMed:21706053}.


uniprotID: Q9NWM8
geneSymbol: FKBP14
reactome: R-HSA-381038;
pdb: 4DIP;4MSP;
length: 211
go: ENSG00000106080;
name:
Peptidyl-prolyl cis-trans isomerase FKBP14 (PPIase FKBP14) (EC 5.2.1.8) (22 kDa FK506-binding protein) (22 kDa FKBP) (FKBP-22) (FK506-binding protein 14) (FKBP-14) (Rotamase)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; calcium ion binding [GO:0005509]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; IRE1-mediated unfolded protein response [GO:0036498]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:22265013}.


uniprotID: Q9H9S5
geneSymbol: FKRP
name: Fukutin-related protein (EC 2.4.2.-) (Ribitol-5-phosphate transferase)
length: 495
go: ENSG00000181027;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; rough endoplasmic reticulum [GO:0005791]; sarcolemma [GO:0042383]; dystroglycan binding [GO:0002162]; transferase activity [GO:0016740]; protein O-linked mannosylation [GO:0035269]; protein processing [GO:0016485]

snps:
rs28937905 rs104894683 rs143793528 rs104894690 rs148206382 rs543163491 rs28937902 rs28937900 rs104894691 rs563033008 rs104894692 rs104894679 rs752582904 rs28937901 rs104894684 rs143031195 rs28937904 rs104894681 rs28937903 rs768606230 rs121908110 rs1057520772 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:21886772, ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:29477842, ECO:0000305|PubMed:26923585}; Single-pass type II membrane protein {ECO:0000305}. Secreted {ECO:0000269|PubMed:19900540}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q8CG64}. Rough endoplasmic reticulum {ECO:0000269|PubMed:15213246}. Cytoplasm {ECO:0000250|UniProtKB:Q8CG64}. Note=According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted (PubMed:19900540). Localization at the cell membrane may require the presence of dystroglycan (By similarity). At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes (PubMed:17554798, PubMed:21886772). In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum (PubMed:15213246). {ECO:0000250|UniProtKB:Q8CG64, ECO:0000269|PubMed:15213246, ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:19900540, ECO:0000269|PubMed:21886772}.


uniprotID: O75072
geneSymbol: FKTN
length: 461
go: ENSG00000106692;
name:
Fukutin (EC 2.4.2.-) (Fukuyama-type congenital muscular dystrophy protein) (Ribitol-5-phosphate transferase)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; integral component of Golgi membrane [GO:0030173]; nucleus [GO:0005634]; transferase activity [GO:0016740]; muscle organ development [GO:0007517]; negative regulation of cell proliferation [GO:0008285]; negative regulation of JNK cascade [GO:0046329]; nervous system development [GO:0007399]; protein O-linked glycosylation [GO:0006493]; protein O-linked mannosylation [GO:0035269]; regulation of protein glycosylation [GO:0060049]

snps:
rs41277797 rs119463995 rs34006675 rs119464997 rs119463996 rs119463994 rs34787999 rs779298204 rs119463992 rs119463993 rs119464998 rs41313301 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75072-1; Sequence=Displayed; Name=2; IsoId=O75072-2; Sequence=VSP_045961; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:29477842, ECO:0000305|PubMed:26923585}; Single-pass type II membrane protein {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:Q8R507}. Nucleus {ECO:0000250|UniProtKB:Q8R507}. Note=In retinal tissue, does not localize with the Golgi apparatus. {ECO:0000250|UniProtKB:Q8R507}.


uniprotID: E5RQL4
geneSymbol: FTCDNL1
length: 147
go: ENSG00000226124;
opentargets: folic acid binding [GO:0005542]; transferase activity [GO:0016740]
name:
Formiminotransferase N-terminal subdomain-containing protein (Formiminotransferase-cyclodeaminase N-terminal-like protein)

sequence:
MSSSRVGLRLAACLLNVSEAGRKYIVENIAKAALLDKNGKKHPQVSVLNIFSDQDYKRSVITIATSVDKLGLAEDLVLHVPGCSVFLFGEADLPEKRSLVQRRKQLGWFTRRDFSALQPDLGAAPSQRCGLTGSEHGFCFALFFFFF


uniprotID: P98177
geneSymbol: FOXO4
reactome: R-HSA-198693;R-HSA-5674400;R-HSA-5689880;
pdb: 1E17;3L2C;
name: Forkhead box protein O4 (Fork head domain transcription factor AFX1)
length: 505
go: ENSG00000184481;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; beta-catenin binding [GO:0008013]; 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]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; promoter-specific chromatin binding [GO:1990841]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; aging [GO:0007568]; cell cycle arrest [GO:0007050]; glucose homeostasis [GO:0042593]; insulin receptor signaling pathway [GO:0008286]; mitotic G2 DNA damage checkpoint [GO:0007095]; muscle organ development [GO:0007517]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell proliferation [GO:0008285]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of smooth muscle cell differentiation [GO:0051151]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; regulation of transcription, DNA-templated [GO:0006355]; response to nutrient levels [GO:0031667]; response to water-immersion restraint stress [GO:1990785]; stem cell differentiation [GO:0048863]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=FOXO4a; IsoId=P98177-1; Sequence=Displayed; Name=Zeta; Synonyms=AFXzeta, FOXO4b; IsoId=P98177-2; Sequence=VSP_001552; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=When phosphorylated, translocated from nucleus to cytoplasm. Dephosphorylation triggers nuclear translocation. Monoubiquitination increases nuclear localization. When deubiquitinated, translocated from nucleus to cytoplasm.


uniprotID: Q96AY3
geneSymbol: FKBP10
length: 582
go: ENSG00000141756;
snps: rs397514674 rs387906960 rs782653042 rs34764749
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
name:
Peptidyl-prolyl cis-trans isomerase FKBP10 (PPIase FKBP10) (EC 5.2.1.8) (65 kDa FK506-binding protein) (65 kDa FKBP) (FKBP-65) (FK506-binding protein 10) (FKBP-10) (Immunophilin FKBP65) (Rotamase)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; calcium ion binding [GO:0005509]; FK506 binding [GO:0005528]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AY3-1; Sequence=Displayed; Name=2; IsoId=Q96AY3-2; Sequence=VSP_056425, VSP_056426, VSP_056427, VSP_056428; Note=No experimental confirmation available.; 


uniprotID: Q9BXM9
geneSymbol: FSD1L
name: FSD1-like protein (Coiled-coil domain-containing protein 10) (FSD1 N-terminal-like protein)
length: 530
go: ENSG00000106701;
opentargets: intracellular [GO:0005622]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BXM9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9BXM9-2; Sequence=VSP_039645; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; Name=3; IsoId=Q9BXM9-3; Sequence=VSP_039645, VSP_039646, VSP_039647; Note=Due to intron retention. {ECO:0000244|PubMed:22814378}; 


uniprotID: Q96HJ9
geneSymbol: FMC1
length: 113
go: ENSG00000164898;ENSG00000269955;
snps: rs10265
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:28719601}.
name:
Protein FMC1 homolog (ATP synthase assembly factor FMC1, mitochondrial) (Formation of mitochondrial complex V assembly factor 1 homolog)

sequence:
MAALGSPSHTFRGLLRELRYLSAATGRPYRDTAAYRYLVKAFRAHRVTSEKLCRAQHELHFQAATYLCLLRSIRKHVALHQEFHGKGERSVEESAGLVGLKLPHQPGGKGWEP

opentargets:
mitochondrion [GO:0005739]; mitochondrial proton-transporting ATP synthase complex assembly [GO:0033615]; negative regulation of lipid catabolic process [GO:0050995]; regulation of type B pancreatic cell proliferation [GO:0061469]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HJ9-1; Sequence=Displayed; Name=2; IsoId=Q96HJ9-2; Sequence=VSP_047244; Note=No experimental confirmation available.; 


uniprotID: F2Z333
geneSymbol: FNDC10
name: Fibronectin type III domain-containing protein 10
length: 226
go: ENSG00000228594;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9Y2H6
geneSymbol: FNDC3A
pdb: 1WK0;1X3D;1X4X;1X5X;2CRM;2CRZ;
name: Fibronectin type-III domain-containing protein 3A (Human gene expressed in odontoblasts)
length: 1198
go: ENSG00000102531;
snps: rs34539036
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; vesicle membrane [GO:0012506]; RNA binding [GO:0003723]; cell-cell adhesion [GO:0098609]; fertilization [GO:0009566]; Sertoli cell development [GO:0060009]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=1; Synonyms=HUGO1; IsoId=Q9Y2H6-1; Sequence=Displayed; Name=2; Synonyms=HUGO2; IsoId=Q9Y2H6-2; Sequence=VSP_037723, VSP_037724; 

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


uniprotID: P49354
geneSymbol: FNTA
reactome: R-HSA-111465;R-HSA-2514859;
pdb: 1JCQ;1LD7;1LD8;1MZC;1S63;1SA4;1TN6;2F0Y;2H6F;2H6G;2H6H;2H6I;2IEJ;3E37;
length: 379
go: ENSG00000168522;
drug: DB08180;DB06953;DB07227;DB07895;DB04893;DB07780;DB07841;
name:
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha (EC 2.5.1.58) (EC 2.5.1.59) (CAAX farnesyltransferase subunit alpha) (FTase-alpha) (Ras proteins prenyltransferase subunit alpha) (Type I protein geranyl-geranyltransferase subunit alpha) (GGTase-I-alpha)

sequence:

opentargets:
CAAX-protein geranylgeranyltransferase complex [GO:0005953]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule associated complex [GO:0005875]; plasma membrane [GO:0005886]; protein farnesyltransferase complex [GO:0005965]; acetylcholine receptor regulator activity [GO:0030548]; alpha-tubulin binding [GO:0043014]; CAAX-protein geranylgeranyltransferase activity [GO:0004662]; microtubule binding [GO:0008017]; protein farnesyltransferase activity [GO:0004660]; protein geranylgeranyltransferase activity [GO:0004661]; Rab geranylgeranyltransferase activity [GO:0004663]; receptor tyrosine kinase binding [GO:0030971]; neurotransmitter receptor metabolic process [GO:0045213]; positive regulation of deacetylase activity [GO:0090045]; positive regulation of tubulin deacetylation [GO:0090044]; protein farnesylation [GO:0018343]; protein geranylgeranylation [GO:0018344]; skeletal muscle acetylcholine-gated channel clustering [GO:0071340]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49354-1; Sequence=Displayed; Name=2; IsoId=P49354-2; Sequence=VSP_036468; 


uniprotID: O75474
geneSymbol: FRAT2
reactome: R-HSA-196299;R-HSA-4641262;
name: GSK-3-binding protein FRAT2 (Frequently rearranged in advanced T-cell lymphomas 2) (FRAT-2)
length: 233
go: ENSG00000181274;
sequence:

opentargets:
cytosol [GO:0005829]; beta-catenin destruction complex disassembly [GO:1904886]; cell proliferation [GO:0008283]; multicellular organism development [GO:0007275]


uniprotID: A2A2Y4
geneSymbol: FRMD3
name: FERM domain-containing protein 3 (Band 4.1-like protein 4O) (Ovary type protein 4.1) (4.1O)
length: 597
go: ENSG00000172159;
snps: rs4877747
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
cytoskeleton [GO:0005856]; integral component of membrane [GO:0016021]; cytoskeletal protein binding [GO:0008092]; actomyosin structure organization [GO:0031032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A2A2Y4-1; Sequence=Displayed; Name=2; IsoId=A2A2Y4-2; Sequence=VSP_031167; Name=3; IsoId=A2A2Y4-3; Sequence=VSP_031163, VSP_031165, VSP_031167; Name=4; IsoId=A2A2Y4-4; Sequence=VSP_031162, VSP_031166, VSP_031167; Note=No experimental confirmation available.; Name=5; IsoId=A2A2Y4-5; Sequence=VSP_031164; 


uniprotID: P41439
geneSymbol: FOLR3
reactome: R-HSA-6798695;
name: Folate receptor gamma (FR-gamma) (Folate receptor 3)
length: 243
go: ENSG00000110203;
drug: DB05168;DB00158;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; extracellular region [GO:0005576]; extrinsic component of membrane [GO:0019898]; membrane [GO:0016020]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; folic acid binding [GO:0005542]; signaling receptor activity [GO:0038023]; cell adhesion [GO:0007155]; folic acid transport [GO:0015884]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; neutrophil degranulation [GO:0043312]; sperm-egg recognition [GO:0035036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=P41439-1; Sequence=Displayed; Name=Short; IsoId=P41439-2; Sequence=VSP_001506; 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=P41439-3; Sequence=VSP_055089; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: A8MTJ6
geneSymbol: FOXI3
name: Forkhead box protein I3
length: 420
go: ENSG00000214336;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q9UJU5
geneSymbol: FOXD3
reactome: R-HSA-2892247;
name: Forkhead box protein D3 (HNF3/FH transcription factor genesis)
length: 478
go: ENSG00000187140;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; in utero embryonic development [GO:0001701]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; somatic stem cell population maintenance [GO:0035019]


uniprotID: Q9BXR6
geneSymbol: CFHR5
reactome: R-HSA-977606;
name: Complement factor H-related protein 5 (FHR-5)
length: 569
go: ENSG00000134389;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; protein-containing complex [GO:0032991]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; complement activation, alternative pathway [GO:0006957]; negative regulation of protein binding [GO:0032091]; positive regulation of cytolysis [GO:0045919]; regulation of complement activation [GO:0030449]

snps:
rs12097550 rs318240754 rs318240755 rs147488267 rs318240756 rs35662416 rs111327589 rs201265664 rs35957013 rs16840956 


uniprotID: Q8NFG4
geneSymbol: FLCN
pdb: 3V42;
name: Folliculin (BHD skin lesion fibrofolliculoma protein) (Birt-Hogg-Dube syndrome protein)
length: 579
go: ENSG00000154803;
snps: rs137852930 rs78683075 rs143483053 rs557336321 rs375082054 rs41419545 rs199643834
sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lysosome [GO:0005764]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein-containing complex binding [GO:0044877]; cell-cell junction assembly [GO:0007043]; energy homeostasis [GO:0097009]; hemopoiesis [GO:0030097]; in utero embryonic development [GO:0001701]; negative regulation of ATP biosynthetic process [GO:2001170]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation involved in kidney development [GO:1901723]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of gene expression [GO:0010629]; negative regulation of mitochondrion organization [GO:0010823]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of protein localization to nucleus [GO:1900181]; negative regulation of Rho protein signal transduction [GO:0035024]; negative regulation of TOR signaling [GO:0032007]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of apoptotic process [GO:0043065]; positive regulation of autophagy [GO:0010508]; positive regulation of cell adhesion [GO:0045785]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of TOR signaling [GO:0032008]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; regulation of cytokinesis [GO:0032465]; regulation of histone acetylation [GO:0035065]; regulation of pro-B cell differentiation [GO:2000973]; regulation of protein phosphorylation [GO:0001932]; regulation of TOR signaling [GO:0032006]; TOR signaling [GO:0031929]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NFG4-1; Sequence=Displayed; Name=2; IsoId=Q8NFG4-2; Sequence=VSP_017314, VSP_017315; Note=No experimental confirmation available.; Name=3; IsoId=Q8NFG4-3; Sequence=VSP_017312, VSP_017313; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17028174, ECO:0000269|PubMed:18663353}. Nucleus {ECO:0000269|PubMed:17028174, ECO:0000269|PubMed:18663353}. Note=Mainly localized in the nucleus. Colocalizes with FNIP1 and FNIP2 in the cytoplasm. {ECO:0000269|PubMed:17028174, ECO:0000269|PubMed:18663353}.


uniprotID: P32314
geneSymbol: FOXN2
name: Forkhead box protein N2 (Human T-cell leukemia virus enhancer factor)
length: 431
go: ENSG00000170802;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P32314-1; Sequence=Displayed; Name=2; IsoId=P32314-2; Sequence=VSP_035743, VSP_035744; 


uniprotID: Q6ZNA5
geneSymbol: FRRS1
name: Ferric-chelate reductase 1 (EC 1.-.-.-) (Stromal cell-derived receptor 2) (SDR-2)
length: 592
go: ENSG00000156869;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; ferric-chelate reductase activity [GO:0000293]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZNA5-1; Sequence=Displayed; Name=2; IsoId=Q6ZNA5-2; Sequence=VSP_030400; Note=No experimental confirmation available.; 


uniprotID: Q6PIV2
geneSymbol: FOXR1
name: Forkhead box protein R1 (Forkhead box protein N5)
length: 292
go: ENSG00000176302;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PIV2-1; Sequence=Displayed; Name=2; IsoId=Q6PIV2-2; Sequence=VSP_056600, VSP_056601; Note=No experimental confirmation available.; 


uniprotID: Q64ET8
geneSymbol: FRG2
name: Protein FRG2 (FSHD region gene 2 protein)
length: 278
go: ENSG00000205097;
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15520407}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q64ET8-1; Sequence=Displayed; Name=2; IsoId=Q64ET8-2; Sequence=VSP_055076; Note=No experimental confirmation available.; 


uniprotID: Q9P2Q2
geneSymbol: FRMD4A
name: FERM domain-containing protein 4A
length: 1039
go: ENSG00000151474;
snps: rs11258565
sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; protein binding, bridging [GO:0030674]; establishment of epithelial cell polarity [GO:0090162]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q8BIE6}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q8BIE6}. Note=Colocalized with CYTH1 at adherens junction and tight junction. Colocalized with PARD3 during the process of epithelial polarization. {ECO:0000250|UniProtKB:Q8BIE6}.


uniprotID: P58012
geneSymbol: FOXL2
reactome: R-HSA-3232118;
name: Forkhead box protein L2
length: 376
go: ENSG00000183770;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:19744555}.
sequence:

opentargets:
intercellular bridge [GO:0045171]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cysteine-type endopeptidase regulator activity involved in apoptotic process [GO:0043028]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; estrogen receptor binding [GO:0030331]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; ubiquitin conjugating enzyme binding [GO:0031624]; anatomical structure morphogenesis [GO:0009653]; apoptotic DNA fragmentation [GO:0006309]; cell differentiation [GO:0030154]; embryonic eye morphogenesis [GO:0048048]; extraocular skeletal muscle development [GO:0002074]; female somatic sex determination [GO:0019101]; granulosa cell differentiation [GO:0060014]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; oocyte growth [GO:0001555]; ovarian follicle development [GO:0001541]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of follicle-stimulating hormone secretion [GO:0046881]; positive regulation of luteinizing hormone secretion [GO:0033686]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; single fertilization [GO:0007338]; uterus development [GO:0060065]

snps:
rs1315073489 rs387906920 rs28937884 rs1057516149 rs1057516151 rs1057516153 rs1057516156 rs1057519865 rs7432551 rs121908359 rs1057516162 rs1057516168 rs797044527 rs28937885 rs201840174 


uniprotID: P49356
geneSymbol: FNTB
reactome: R-HSA-2514859;
pdb: 1JCQ;1LD7;1LD8;1MZC;1S63;1SA4;1TN6;2F0Y;2H6F;2H6G;2H6H;2H6I;2IEJ;3E37;
length: 437
go: ENSG00000257365;
drug: DB06953;DB07227;DB07895;DB04893;DB07780;DB07841;DB04960;
name:
Protein farnesyltransferase subunit beta (FTase-beta) (EC 2.5.1.58) (CAAX farnesyltransferase subunit beta) (Ras proteins prenyltransferase subunit beta)

sequence:

opentargets:
cytosol [GO:0005829]; microtubule associated complex [GO:0005875]; protein farnesyltransferase complex [GO:0005965]; drug binding [GO:0008144]; farnesyltranstransferase activity [GO:0004311]; isoprenoid binding [GO:0019840]; peptide binding [GO:0042277]; protein farnesyltransferase activity [GO:0004660]; zinc ion binding [GO:0008270]; negative regulation of cell proliferation [GO:0008285]; positive regulation of cell cycle [GO:0045787]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; protein farnesylation [GO:0018343]; protein prenylation [GO:0018342]; response to cytokine [GO:0034097]; response to inorganic substance [GO:0010035]; response to organic cyclic compound [GO:0014070]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49356-1; Sequence=Displayed; Name=2; IsoId=P49356-2; Sequence=VSP_054657; Note=No experimental confirmation available.; 


uniprotID: P14324
geneSymbol: FDPS
reactome: R-HSA-191273;R-HSA-2426168;
length: 419
go: ENSG00000160752;
drug: DB00630;DB01785;DB07780;DB02552;DB07841;DB00710;DB04714;DB02508;DB00282;DB00884;DB00399;
snps: rs863225241 rs41314549 rs17456
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1YQ7;1YV5;1ZW5;2F7M;2F89;2F8C;2F8Z;2F92;2F94;2F9K;2OPM;2OPN;2QIS;2RAH;2VF6;3B7L;3CP6;3N1V;3N1W;3N3L;3N45;3N46;3N49;3N5H;3N5J;3N6K;3RYE;3S4J;4DEM;4GA3;4H5C;4H5D;4H5E;4JVJ;4KFA;4KPD;4KPJ;4KQ5;4KQS;4KQU;4L2X;4LFV;4LPG;4LPH;4N1Z;4N9U;4NFI;4NFJ;4NFK;4NG6;4NKE;4NKF;4NUA;4OGU;4P0V;4P0W;4P0X;4PVX;4PVY;4Q23;4QPF;4QXS;4RXA;4XQR;4XQS;4XQT;5CG5;5CG6;5DGM;5DGN;5DGS;5DIQ;5DJP;5DJR;5DJV;5JA0;5JUZ;5JV0;5JV1;5JV2;5KSX;5YGI;

name:
Farnesyl pyrophosphate synthase (FPP synthase) (FPS) (EC 2.5.1.10) ((2E,6E)-farnesyl diphosphate synthase) (Dimethylallyltranstransferase) (EC 2.5.1.1) (Farnesyl diphosphate synthase) (Geranyltranstransferase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; dimethylallyltranstransferase activity [GO:0004161]; geranyltranstransferase activity [GO:0004337]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; cholesterol biosynthetic process [GO:0006695]; farnesyl diphosphate biosynthetic process [GO:0045337]; geranyl diphosphate biosynthetic process [GO:0033384]; regulation of cholesterol biosynthetic process [GO:0045540]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14324-1; Sequence=Displayed; Name=2; IsoId=P14324-2; Sequence=VSP_046958; 


uniprotID: O43524
geneSymbol: FOXO3
pdb: 2K86;2LQH;2LQI;2UZK;
name: Forkhead box protein O3 (AF6q21 protein) (Forkhead in rhabdomyosarcoma-like 1)
length: 673
go: ENSG00000118689;
reactome:
R-HSA-1181150;R-HSA-198693;R-HSA-5674400;R-HSA-5687128;R-HSA-6785807;R-HSA-8862803;R-HSA-8950505;R-HSA-8952158;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrial outer membrane [GO:0005741]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; beta-catenin binding [GO:0008013]; chromatin DNA binding [GO:0031490]; 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]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; mitochondrial sequence-specific DNA-binding transcription factor activity [GO:0034246]; protein kinase binding [GO:0019901]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription cofactor binding [GO:0001221]; transcription factor binding [GO:0008134]; aging [GO:0007568]; antral ovarian follicle growth [GO:0001547]; brain morphogenesis [GO:0048854]; cellular response to amyloid-beta [GO:1904646]; cellular response to corticosterone stimulus [GO:0071386]; cellular response to glucose stimulus [GO:0071333]; cellular response to hypoxia [GO:0071456]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to oxidative stress [GO:0034599]; cytokine-mediated signaling pathway [GO:0019221]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; glucose homeostasis [GO:0042593]; initiation of primordial ovarian follicle growth [GO:0001544]; insulin receptor signaling pathway [GO:0008286]; mitochondrial transcription [GO:0006390]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell migration [GO:0030336]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuronal stem cell population maintenance [GO:0097150]; oocyte maturation [GO:0001556]; ovulation from ovarian follicle [GO:0001542]; positive regulation of apoptotic process [GO:0043065]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of hydrogen peroxide-mediated programmed cell death [GO:1901300]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of neural precursor cell proliferation [GO:2000177]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of translation [GO:0006417]; response to dexamethasone [GO:0071548]; response to nutrient levels [GO:0031667]; response to water-immersion restraint stress [GO:1990785]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43524-1; Sequence=Displayed; Name=2; IsoId=O43524-2; Sequence=VSP_056225; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10102273, ECO:0000269|PubMed:15084260, ECO:0000269|PubMed:16751106, ECO:0000269|PubMed:17711846, ECO:0000269|PubMed:21329882, ECO:0000269|PubMed:22313691, ECO:0000269|PubMed:22761832, ECO:0000269|PubMed:23283301}. Nucleus {ECO:0000269|PubMed:10102273, ECO:0000269|PubMed:15084260, ECO:0000269|PubMed:16751106, ECO:0000269|PubMed:17711846, ECO:0000269|PubMed:21329882, ECO:0000269|PubMed:22313691, ECO:0000269|PubMed:22761832, ECO:0000269|PubMed:23283301, ECO:0000269|PubMed:29445193}. Mitochondrion matrix {ECO:0000269|PubMed:23283301, ECO:0000269|PubMed:29445193}. Mitochondrion outer membrane {ECO:0000269|PubMed:29445193}; Peripheral membrane protein {ECO:0000269|PubMed:29445193}; Cytoplasmic side {ECO:0000269|PubMed:29445193}. Note=Retention in the cytoplasm contributes to its inactivation (PubMed:10102273, PubMed:15084260, PubMed:16751106). Translocates to the nucleus upon oxidative stress and in the absence of survival factors (PubMed:10102273, PubMed:16751106). Translocates in a AMPK-dependent manner into the mitochondrion in response to metabolic stress (PubMed:23283301, PubMed:29445193). {ECO:0000269|PubMed:10102273, ECO:0000269|PubMed:15084260, ECO:0000269|PubMed:16751106, ECO:0000269|PubMed:23283301, ECO:0000269|PubMed:29445193}.


uniprotID: Q9Y2L6
geneSymbol: FRMD4B
name: FERM domain-containing protein 4B (GRP1-binding protein GRSP1)
length: 1034
go: ENSG00000114541;
sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular space [GO:0005615]; ruffle [GO:0001726]; establishment of epithelial cell polarity [GO:0090162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2L6-1; Sequence=Displayed; Name=2; IsoId=Q9Y2L6-2; Sequence=VSP_040895; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q920B0}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q920B0}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q920B0}. Note=Colocalized with PARD3 at adherens junction and tight junction. {ECO:0000250|UniProtKB:Q920B0}.


uniprotID: O15353
geneSymbol: FOXN1
pdb: 5OCN;6EL8;
name: Forkhead box protein N1 (Winged-helix transcription factor nude)
length: 648
go: ENSG00000109101;
snps: rs2071587 rs2286520 rs532648
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; animal organ morphogenesis [GO:0009887]; blood vessel morphogenesis [GO:0048514]; defense response [GO:0006952]; epidermis development [GO:0008544]; epithelial cell proliferation [GO:0050673]; hair follicle development [GO:0001942]; keratinocyte differentiation [GO:0030216]; lymphoid lineage cell migration into thymus [GO:0097535]; nail development [GO:0035878]; positive regulation of epithelial cell differentiation [GO:0030858]; positive regulation of hair follicle development [GO:0051798]; regulation of positive thymic T cell selection [GO:1902232]; regulation of transcription by RNA polymerase II [GO:0006357]; T cell homeostasis [GO:0043029]; T cell lineage commitment [GO:0002360]; thymus epithelium morphogenesis [GO:0097536]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q9H334
geneSymbol: FOXP1
reactome: R-HSA-452723;
pdb: 2KIU;
name: Forkhead box protein P1 (Mac-1-regulated forkhead) (MFH)
length: 677
go: ENSG00000114861;
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein self-association [GO:0043621]; sequence-specific DNA binding [GO:0043565]; chemokine (C-C motif) ligand 2 secretion [GO:0035926]; endothelial cell activation [GO:0042118]; interleukin-21 secretion [GO:0072619]; macrophage activation [GO:0042116]; monocyte activation [GO:0042117]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of B cell apoptotic process [GO:0002903]; negative regulation of transcription, DNA-templated [GO:0045892]; osteoclast development [GO:0036035]; osteoclast differentiation [GO:0030316]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of smooth muscle cell proliferation [GO:0048661]; regulation of defense response to bacterium [GO:1900424]; regulation of endothelial tube morphogenesis [GO:1901509]; regulation of inflammatory response [GO:0050727]; regulation of interleukin-1 beta secretion [GO:0050706]; regulation of interleukin-12 secretion [GO:2001182]; regulation of macrophage colony-stimulating factor production [GO:1901256]; regulation of monocyte differentiation [GO:0045655]; regulation of tumor necrosis factor production [GO:0032680]; response to lipopolysaccharide [GO:0032496]; somatic stem cell population maintenance [GO:0035019]; T follicular helper cell differentiation [GO:0061470]

snps:
rs762898505 rs564508875 rs146606219 rs761840006 rs147756430 rs869025202 rs869025203 rs587777855 rs140161845 rs1318614471 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9H334-1; Sequence=Displayed; Name=3; IsoId=Q9H334-3; Sequence=VSP_001555, VSP_001556; Note=Incomplete sequence.; Name=4; IsoId=Q9H334-4; Sequence=VSP_001555; Note=Incomplete sequence. No experimental confirmation available.; Name=5; IsoId=Q9H334-5; Sequence=VSP_043462, VSP_043463; Name=6; IsoId=Q9H334-6; Sequence=VSP_001556; Name=7; IsoId=Q9H334-7; Sequence=VSP_046930; Note=No experimental confirmation available. May be due to competing acceptor splice site.; Name=8; Synonyms=FOXP1-ES; IsoId=Q9H334-8; Sequence=VSP_057341; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25027557, ECO:0000269|PubMed:26647308}. Note=Not found in the nucleolus. {ECO:0000269|PubMed:26647308}.


uniprotID: Q96NE9
geneSymbol: FRMD6
name: FERM domain-containing protein 6 (Willin)
length: 622
go: ENSG00000139926;
sequence:

opentargets:
apical junction complex [GO:0043296]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; plasma membrane [GO:0005886]; actomyosin structure organization [GO:0031032]; apical constriction [GO:0003383]; cellular protein localization [GO:0034613]; regulation of actin filament-based process [GO:0032970]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96NE9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96NE9-2; Sequence=VSP_008023; Name=3; IsoId=Q96NE9-3; Sequence=VSP_008022; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16137681}. Cell membrane {ECO:0000269|PubMed:16137681}; Peripheral membrane protein {ECO:0000269|PubMed:16137681}; Cytoplasmic side {ECO:0000269|PubMed:16137681}. Note=Can colocalize with actin.


uniprotID: P53539
geneSymbol: FOSB
reactome: R-HSA-9018519;
pdb: 5VPA;5VPB;5VPC;5VPD;5VPE;5VPF;
name: Protein fosB (G0/G1 switch regulatory protein 3)
length: 338
go: ENSG00000125740;
snps: rs28381241
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; cellular response to calcium ion [GO:0071277]; cellular response to hormone stimulus [GO:0032870]; female pregnancy [GO:0007565]; negative regulation of transcription by RNA polymerase II [GO:0000122]; response to cAMP [GO:0051591]; response to corticosterone [GO:0051412]; response to mechanical stimulus [GO:0009612]; response to morphine [GO:0043278]; response to progesterone [GO:0032570]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; Synonyms=FosB-L; IsoId=P53539-1; Sequence=Displayed; Name=2; IsoId=P53539-2; Sequence=VSP_046167; Name=3; IsoId=P53539-3; Sequence=VSP_055563; Name=4; IsoId=P53539-4; Sequence=VSP_055565; Name=5; IsoId=P53539-5; Sequence=VSP_055563, VSP_046167; Name=6; IsoId=P53539-6; Sequence=VSP_046167, VSP_055565; Name=7; IsoId=P53539-7; Sequence=VSP_055563, VSP_055565; Name=8; IsoId=P53539-8; Sequence=VSP_055564; Name=9; IsoId=P53539-9; Sequence=VSP_055564, VSP_055565; Name=10; IsoId=P53539-10; Sequence=VSP_055562; Note=No experimental confirmation available.; 


uniprotID: Q08050
geneSymbol: FOXM1
reactome: R-HSA-156711;R-HSA-69273;
pdb: 3G73;
length: 763
go: ENSG00000111206;
snps: rs28990715 rs28919868 rs3742076 rs28919869 rs28919870
location: SUBCELLULAR LOCATION: Nucleus.
name:
Forkhead box protein M1 (Forkhead-related protein FKHL16) (Hepatocyte nuclear factor 3 forkhead homolog 11) (HFH-11) (HNF-3/fork-head homolog 11) (M-phase phosphoprotein 2) (MPM-2 reactive phosphoprotein 2) (Transcription factor Trident) (Winged-helix factor from INS-1 cells)

sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; protein kinase binding [GO:0019901]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; DNA repair [GO:0006281]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of cell aging [GO:0090344]; negative regulation of stress-activated MAPK cascade [GO:0032873]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]; positive regulation of double-strand break repair [GO:2000781]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell cycle [GO:0051726]; regulation of cell cycle arrest [GO:0071156]; regulation of cell growth [GO:0001558]; regulation of cell proliferation [GO:0042127]; regulation of Ras protein signal transduction [GO:0046578]; regulation of reactive oxygen species metabolic process [GO:2000377]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Isoform 1 and isoform 2 appear to be the only activators of gene transcription. Isoform 3, found in rat, does not seem to exist in human.; Name=1; Synonyms=FoxM1C, FOXM1-c; IsoId=Q08050-1; Sequence=Displayed; Name=2; Synonyms=FoxM1B, FOXM1-b; IsoId=Q08050-2; Sequence=VSP_001547; Name=4; Synonyms=FoxM1A, FOXM1-a; IsoId=Q08050-3; Sequence=VSP_001548; 


uniprotID: P49789
geneSymbol: FHIT
pdb: 1FHI;1FIT;2FHI;2FIT;3FIT;4FIT;5FIT;6FIT;
length: 147
go: ENSG00000189283;
drug: DB02373;DB04389;DB04173;
location: SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion. Nucleus.
name:
Bis(5'-adenosyl)-triphosphatase (EC 3.6.1.29) (AP3A hydrolase) (AP3Aase) (Diadenosine 5',5'''-P1,P3-triphosphate hydrolase) (Dinucleosidetriphosphatase) (Fragile histidine triad protein)

sequence:
MSFRFGQHLIKPSVVFLKTELSFALVNRKPVVPGHVLVCPLRPVERFHDLRPDEVADLFQTTQRVGTVVEKHFHGTSLTFSMQDGPEAGQTVKHVHVHVLPRKAGDFHRNDSIYEELQKHDKEDFPASWRSEEEMAAEAAALRVYFQ

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; bis(5'-adenosyl)-triphosphatase activity [GO:0047710]; catalytic activity [GO:0003824]; hydrolase activity [GO:0016787]; identical protein binding [GO:0042802]; nucleotide binding [GO:0000166]; ubiquitin protein ligase binding [GO:0031625]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; nucleotide metabolic process [GO:0009117]; purine nucleotide metabolic process [GO:0006163]


uniprotID: Q9BVV2
geneSymbol: FNDC11
name: Fibronectin type III domain-containing protein 11
length: 318
go: ENSG00000125531;
sequence:


uniprotID: P15328
geneSymbol: FOLR1
reactome: R-HSA-204005;R-HSA-5694530;R-HSA-6807878;
pdb: 4KM6;4KM7;4KMX;4LRH;5IZQ;
length: 257
go: ENSG00000110195;
drug: DB05168;DB05595;DB00563;
snps: rs7928649 rs1801932
name:
Folate receptor alpha (FR-alpha) (Adult folate-binding protein) (FBP) (Folate receptor 1) (Folate receptor, adult) (KB cells FBP) (Ovarian tumor-associated antigen MOv18)

sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; brush border membrane [GO:0031526]; cell surface [GO:0009986]; clathrin-coated vesicle [GO:0030136]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; endosome [GO:0005768]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; drug binding [GO:0008144]; folic acid binding [GO:0005542]; folic acid receptor activity [GO:0061714]; methotrexate binding [GO:0051870]; signaling receptor activity [GO:0038023]; anterior neural tube closure [GO:0061713]; axon regeneration [GO:0031103]; cardiac neural crest cell migration involved in outflow tract morphogenesis [GO:0003253]; cellular response to folic acid [GO:0071231]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; folate import across plasma membrane [GO:1904447]; folic acid metabolic process [GO:0046655]; folic acid transport [GO:0015884]; heart looping [GO:0001947]; neural crest cell migration involved in heart formation [GO:0003147]; pharyngeal arch artery morphogenesis [GO:0061626]; receptor-mediated endocytosis [GO:0006898]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Secreted {ECO:0000305}. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin-coated vesicle. Endosome. Apical cell membrane {ECO:0000250}. Note=Endocytosed into cytoplasmic vesicles and then recycled to the cell membrane.


uniprotID: Q99958
geneSymbol: FOXC2
pdb: 1D5V;
length: 501
go: ENSG00000176692;
snps: rs121909106 rs78018668
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:23878394}.
name:
Forkhead box protein C2 (Forkhead-related protein FKHL14) (Mesenchyme fork head protein 1) (MFH-1 protein) (Transcription factor FKH-14)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; 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]; identical protein binding [GO:0042802]; promoter-specific chromatin binding [GO:1990841]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; heart development [GO:0007507]; insulin receptor signaling pathway [GO:0008286]; lymphangiogenesis [GO:0001946]; mesoderm development [GO:0007498]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular wound healing [GO:0035470]; regulation of transcription by RNA polymerase II [GO:0006357]; response to hormone [GO:0009725]


uniprotID: O95876
geneSymbol: WDPCP
length: 746
go: ENSG00000143951;
snps: rs200322968 rs267606693 rs17617459
name:
WD repeat-containing and planar cell polarity effector protein fritz homolog (hFRTZ) (Bardet-Biedl syndrome 15 protein) (WD repeat-containing and planar cell polarity effector protein)

sequence:

opentargets:
axonemal basal plate [GO:0097541]; axoneme [GO:0005930]; plasma membrane [GO:0005886]; auditory receptor cell morphogenesis [GO:0002093]; camera-type eye development [GO:0043010]; cardiovascular system development [GO:0072358]; cilium assembly [GO:0060271]; digestive system development [GO:0055123]; embryonic digit morphogenesis [GO:0042733]; establishment of protein localization [GO:0045184]; glomerular visceral epithelial cell migration [GO:0090521]; kidney development [GO:0001822]; regulation of embryonic cell shape [GO:0016476]; regulation of establishment of cell polarity [GO:2000114]; regulation of fibroblast migration [GO:0010762]; regulation of focal adhesion assembly [GO:0051893]; regulation of protein localization [GO:0032880]; regulation of ruffle assembly [GO:1900027]; respiratory system development [GO:0060541]; roof of mouth development [GO:0060021]; septin cytoskeleton organization [GO:0032185]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95876-1; Sequence=Displayed; Name=2; IsoId=O95876-2; Sequence=VSP_032409, VSP_032410; Name=3; IsoId=O95876-3; Sequence=VSP_032408; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q32NR9}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q32NR9}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q32NR9}.


uniprotID: Q01543
geneSymbol: FLI1
pdb: 1FLI;1X66;2YTU;5E8G;5E8I;5JVT;
length: 452
go: ENSG00000151702;
snps: rs773148506 rs1064797086 rs1064797083 rs1064797084 rs1064797087
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28255014}.
name:
Friend leukemia integration 1 transcription factor (Proto-oncogene Fli-1) (Transcription factor ERGB)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; animal organ morphogenesis [GO:0009887]; blood circulation [GO:0008015]; cell differentiation [GO:0030154]; hemostasis [GO:0007599]; megakaryocyte development [GO:0035855]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q01543-1; Sequence=Displayed; Name=2; IsoId=Q01543-2; Sequence=VSP_001478; Name=3; IsoId=Q01543-3; Sequence=VSP_045276; Note=No experimental confirmation available.; Name=4; IsoId=Q01543-4; Sequence=VSP_046943; 


uniprotID: Q8NAU1
geneSymbol: FNDC5
pdb: 4LSD;
length: 212
go: ENSG00000160097;
name:
Fibronectin type III domain-containing protein 5 (Fibronectin type III repeat-containing protein 2) [Cleaved into: Irisin]

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; peroxisomal membrane [GO:0005778]; plasma membrane [GO:0005886]; hormone activity [GO:0005179]; positive regulation of brown fat cell differentiation [GO:0090336]; response to muscle activity [GO:0014850]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NAU1-1; Sequence=Displayed; Name=2; IsoId=Q8NAU1-2; Sequence=VSP_032861, VSP_032862; Note=No experimental confirmation available.; Name=3; IsoId=Q8NAU1-3; Sequence=VSP_032860, VSP_032863; Note=No experimental confirmation available.; Name=4; IsoId=Q8NAU1-4; Sequence=VSP_032860; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22237023}; Single-pass type I membrane protein {ECO:0000269|PubMed:22237023}. Peroxisome membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Imported in peroxisomes through the PEX5 receptor pathway. {ECO:0000250}.; SUBCELLULAR LOCATION: Irisin: Secreted. Note=Detected in the blood of individuals subjected to endurance exercise. {ECO:0000269|PubMed:22237023}.


uniprotID: Q9P0K9
geneSymbol: FRRS1L
length: 344
go: ENSG00000260230;
name:
DOMON domain-containing protein FRRS1L (Brain protein CG-6) (Ferric-chelate reductase 1-like protein)

sequence:

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synapse [GO:0045202]; regulation of glutamate receptor signaling pathway [GO:1900449]; regulation of postsynaptic membrane neurotransmitter receptor levels [GO:0099072]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:B1AXV0}. Cell junction, synapse {ECO:0000250|UniProtKB:B1AXV0}.


uniprotID: Q9P278
geneSymbol: FNIP2
length: 1114
go: ENSG00000052795;
snps: rs2276938
name:
Folliculin-interacting protein 2 (FNIP1-like protein) (O6-methylguanine-induced apoptosis 1 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATPase inhibitor activity [GO:0042030]; chaperone binding [GO:0051087]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; mitochondrion organization [GO:0007005]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein complex assembly [GO:0031334]; protein phosphorylation [GO:0006468]; regulation of protein phosphorylation [GO:0001932]; TORC1 signaling [GO:0038202]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P278-1; Sequence=Displayed; Name=2; IsoId=Q9P278-2; Sequence=VSP_031656; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18403135, ECO:0000269|PubMed:18663353, ECO:0000269|PubMed:19137017}. Note=Colocalizes with FLCN in the cytoplasm.


uniprotID: Q96QU4
geneSymbol: FRG2B
name: Protein FRG2-like-1 (FSHD region gene 2 protein family member B) (HSA10-FRG2)
length: 278
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:


uniprotID: O95684
geneSymbol: FGFR1OP
pdb: 2D68;
name: FGFR1 oncogene partner
length: 399
go: ENSG00000213066;
snps: rs34617108 rs17856382
reactome:
R-HSA-1839117;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5655302;R-HSA-8854518;

sequence:

opentargets:
cell projection [GO:0042995]; centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein tyrosine kinase activity [GO:0004713]; protein tyrosine kinase inhibitor activity [GO:0030292]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule anchoring [GO:0034453]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95684-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=O95684-2; Sequence=VSP_018120; Name=3; IsoId=O95684-3; Sequence=VSP_018119, VSP_018121; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:16690081, ECO:0000269|PubMed:28659385}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:28659385}. Note=Associated with gamma-tubulin (PubMed:16314388). Localizes on both mother and daughter centrioles (PubMed:28625565, PubMed:28428259). Localizes to an axial position on the mother centriole (PubMed:28625565). Localizes to the distal end of the centriole partly on the subdistal appendage region (PubMed:28659385). {ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}.


uniprotID: O14772
geneSymbol: FPGT
reactome: R-HSA-6787639;
length: 607
go: ENSG00000254685;
snps: rs55882158
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Fucose-1-phosphate guanylyltransferase (EC 2.7.7.30) (GDP-L-fucose diphosphorylase) (GDP-L-fucose pyrophosphorylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; catalytic activity [GO:0003824]; fucose-1-phosphate guanylyltransferase activity [GO:0047341]; GTP binding [GO:0005525]; fucose metabolic process [GO:0006004]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=2; IsoId=O14772-1; Sequence=Displayed; Name=1; IsoId=Q59H18-1; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a FPGT-TNNI3K fusion protein.; Name=3; IsoId=Q59H18-3; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a FPGT-TNNI3K fusion protein.; Name=4; IsoId=Q59H18-4; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a FPGT-TNNI3K fusion protein.; Name=5; IsoId=O14772-2; Sequence=VSP_059541, VSP_059543; Note=No experimental confirmation available.; Name=6; IsoId=O14772-3; Sequence=VSP_059541, VSP_059542; Note=No experimental confirmation available.; 


uniprotID: Q5H9T9
geneSymbol: FSCB
name: Fibrous sheath CABYR-binding protein
length: 825
go: ENSG00000189139;
opentargets: motile cilium [GO:0031514]; negative regulation of protein sumoylation [GO:0033234]
snps: rs36083807 rs3809429 rs3825630 rs1959379 rs3825632 rs8009274 rs201017166
sequence:

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A1EGX6}. Note=Localizes to cortex of the fibrous sheath including the surface of the longitudinal columns and ribs of the principal piece of sperm flagella. {ECO:0000250|UniProtKB:A1EGX6}.


uniprotID: Q9UIM3
geneSymbol: FKBPL
reactome: R-HSA-8852276;
name: FK506-binding protein-like (WAF-1/CIP1 stabilizing protein 39) (WISp39)
length: 349
go: ENSG00000204315;
snps: rs28732176
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; protein stabilization [GO:0050821]; regulation of blood vessel branching [GO:1905553]; response to radiation [GO:0009314]


uniprotID: P14207
geneSymbol: FOLR2
reactome: R-HSA-163125;R-HSA-196757;
pdb: 4KMY;4KMZ;4KN0;4KN1;4KN2;
length: 255
go: ENSG00000165457;
drug: DB05168;DB00158;
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Secreted {ECO:0000305}.
name:
Folate receptor beta (FR-beta) (Folate receptor 2) (Folate receptor, fetal/placental) (Placental folate-binding protein) (FBP)

sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; cell surface [GO:0009986]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; drug binding [GO:0008144]; folic acid binding [GO:0005542]; folic acid receptor activity [GO:0061714]; methotrexate binding [GO:0051870]; signaling receptor activity [GO:0038023]; cell adhesion [GO:0007155]; folate import across plasma membrane [GO:1904447]; folic acid metabolic process [GO:0046655]; folic acid transport [GO:0015884]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; inflammatory response [GO:0006954]; positive regulation of cell proliferation [GO:0008284]; receptor-mediated endocytosis [GO:0006898]; regulation of thymidylate synthase biosynthetic process [GO:0050758]; sperm-egg recognition [GO:0035036]


uniprotID: P01100
geneSymbol: FOS
reactome: R-HSA-2559580;R-HSA-2559582;R-HSA-2871796;R-HSA-450341;R-HSA-6785807;R-HSA-6796648;R-HSA-9018519;
pdb: 1A02;1FOS;1S9K;
name: Proto-oncogene c-Fos (Cellular oncogene fos) (G0/G1 switch regulatory protein 7)
length: 380
go: ENSG00000170345;
drug: DB08813;DB00852;
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; transcription factor AP-1 complex [GO:0035976]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; R-SMAD binding [GO:0070412]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; aging [GO:0007568]; cellular response to cadmium ion [GO:0071276]; cellular response to calcium ion [GO:0071277]; cellular response to extracellular stimulus [GO:0031668]; cellular response to hormone stimulus [GO:0032870]; cellular response to reactive oxygen species [GO:0034614]; conditioned taste aversion [GO:0001661]; cytokine-mediated signaling pathway [GO:0019221]; DNA methylation [GO:0006306]; Fc-epsilon receptor signaling pathway [GO:0038095]; female pregnancy [GO:0007565]; inflammatory response [GO:0006954]; nervous system development [GO:0007399]; positive regulation of neuron death [GO:1901216]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cAMP [GO:0051591]; response to cold [GO:0009409]; response to corticosterone [GO:0051412]; response to gravity [GO:0009629]; response to immobilization stress [GO:0035902]; response to light stimulus [GO:0009416]; response to lipopolysaccharide [GO:0032496]; response to muscle stretch [GO:0035994]; response to progesterone [GO:0032570]; response to toxic substance [GO:0009636]; skeletal muscle cell differentiation [GO:0035914]; sleep [GO:0030431]; SMAD protein signal transduction [GO:0060395]; transcription by RNA polymerase II [GO:0006366]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P01100-1; Sequence=Displayed; Name=2; IsoId=P01100-2; Sequence=VSP_055560; Note=No experimental confirmation available.; Name=3; IsoId=P01100-3; Sequence=VSP_055561; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Endoplasmic reticulum. Cytoplasm, cytosol. Note=In quiescent cells, present in very small amounts in the cytosol. Following induction of cell growth, first localizes to the endoplasmic reticulum and only later to the nucleus. Localization at the endoplasmic reticulum requires dephosphorylation at Tyr-10 and Tyr-30.


uniprotID: A6NGY1
geneSymbol: FRG2C
name: Protein FRG2-like-2 (FSHD region gene 2 protein family member C) (HSA3-FRG2)
length: 282
go: ENSG00000172969;
opentargets: nucleus [GO:0005634]
snps: rs13073018 rs13096122
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:


uniprotID: Q2WGJ9
geneSymbol: FER1L6
name: Fer-1-like protein 6
length: 1857
go: ENSG00000214814;
opentargets: integral component of membrane [GO:0016021]; response to bacterium [GO:0009617]
snps: rs7012186
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6IN97
geneSymbol: FRMPD2B
length: 320
opentargets: bicellular tight junction assembly [GO:0070830]
name:
Putative protein FRMPD2-like (FERM and PDZ domain-containing protein 2 pseudogene 1) (FERM and PDZ domain-containing protein 2B pseudogene) (PDZ domain-containing protein 5A)

sequence:


uniprotID: Q5CZC0
geneSymbol: FSIP2
name: Fibrous sheath-interacting protein 2
length: 6907
go: ENSG00000188738;
snps: rs9808218 rs201794247
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5CZC0-1; Sequence=Displayed; Name=2; IsoId=Q5CZC0-2; Sequence=VSP_039412, VSP_039413; 


uniprotID: P0C091
geneSymbol: FREM3
name: FRAS1-related extracellular matrix protein 3
length: 2139
go: ENSG00000183090;
snps: rs4478130 rs184496
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
basement membrane [GO:0005604]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; metal ion binding [GO:0046872]; cell adhesion [GO:0007155]; cell communication [GO:0007154]


uniprotID: P02792
geneSymbol: FTL
reactome: R-HSA-3000480;R-HSA-432722;R-HSA-6798695;R-HSA-917937;
pdb: 2FFX;2FG4;2FG8;3KXU;4V6B;5LG8;
name: Ferritin light chain (Ferritin L subunit)
length: 175
go: ENSG00000087086;
drug: DB09412;DB00893;DB02285;
snps: rs397514540 rs104894685
sequence:
MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVALEGVSHFFRELAEEKREGYERLLKMQNQRGGRALFQDIKKPAEDEWGKTPDAMKAAMALEKKLNQALLDLHALGSARTDPHLCDFLETHFLDEEVKLIKKMGDHLTNLHRLGGPEAGLGEYLFERLTLKHD

opentargets:
autolysosome [GO:0044754]; azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; intracellular ferritin complex [GO:0008043]; membrane [GO:0016020]; ferric iron binding [GO:0008199]; ferrous iron binding [GO:0008198]; identical protein binding [GO:0042802]; iron ion binding [GO:0005506]; cellular iron ion homeostasis [GO:0006879]; intracellular sequestering of iron ion [GO:0006880]; iron ion homeostasis [GO:0055072]; iron ion transport [GO:0006826]; neutrophil degranulation [GO:0043312]; oxidation-reduction process [GO:0055114]


uniprotID: Q96M96
geneSymbol: FGD4
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
length: 766
go: ENSG00000139132;
snps: rs63749871 rs63749871
name:
FYVE, RhoGEF and PH domain-containing protein 4 (Actin filament-binding protein frabin) (FGD1-related F-actin-binding protein) (Zinc finger FYVE domain-containing protein 6)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; filopodium [GO:0030175]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; ruffle [GO:0001726]; actin binding [GO:0003779]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; small GTPase binding [GO:0031267]; actin cytoskeleton organization [GO:0030036]; cytoskeleton organization [GO:0007010]; filopodium assembly [GO:0046847]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q96M96-1; Sequence=Displayed; Name=2; IsoId=Q96M96-2; Sequence=VSP_013078, VSP_013082; Note=No experimental confirmation available.; Name=3; IsoId=Q96M96-3; Sequence=VSP_013079, VSP_013080, VSP_013081; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Note=Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity). {ECO:0000250}.


uniprotID: Q5SZK8
geneSymbol: FREM2
name: FRAS1-related extracellular matrix protein 2 (ECM3 homolog)
length: 3169
sequence:

opentargets:
basement membrane [GO:0005604]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; cell adhesion [GO:0007155]; cell communication [GO:0007154]; embryonic digit morphogenesis [GO:0042733]; eye development [GO:0001654]; heart development [GO:0007507]; inner ear development [GO:0048839]; morphogenesis of an epithelium [GO:0002009]

snps:
rs58363253 rs2496423 rs7327915 rs7329939 rs2496424 rs17058433 rs2496425 rs1868463 rs9603422 rs9548505 rs9548506 rs9548509 rs7996253 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SZK8-1; Sequence=Displayed; Name=2; IsoId=Q5SZK8-2; Sequence=VSP_015035, VSP_015036; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}; Extracellular side {ECO:0000305}.


uniprotID: Q12948
geneSymbol: FOXC1
length: 553
go: ENSG00000054598;
name:
Forkhead box protein C1 (Forkhead-related protein FKHL7) (Forkhead-related transcription factor 3) (FREAC-3)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear heterochromatin [GO:0005720]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA binding, bending [GO:0008301]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; promoter-specific chromatin binding [GO:1990841]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription coactivator binding [GO:0001223]; 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]; anatomical structure morphogenesis [GO:0009653]; angiogenesis [GO:0001525]; artery morphogenesis [GO:0048844]; blood vessel remodeling [GO:0001974]; camera-type eye development [GO:0043010]; cardiac muscle cell proliferation [GO:0060038]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cellular response to chemokine [GO:1990869]; cellular response to epidermal growth factor stimulus [GO:0071364]; cerebellum development [GO:0021549]; chemokine-mediated signaling pathway [GO:0070098]; collagen fibril organization [GO:0030199]; embryonic heart tube development [GO:0035050]; endochondral ossification [GO:0001958]; eye development [GO:0001654]; germ cell migration [GO:0008354]; glomerular epithelium development [GO:0072010]; glycosaminoglycan metabolic process [GO:0030203]; heart development [GO:0007507]; in utero embryonic development [GO:0001701]; kidney development [GO:0001822]; lacrimal gland development [GO:0032808]; lymph vessel development [GO:0001945]; maintenance of lens transparency [GO:0036438]; mesenchymal cell development [GO:0014031]; negative regulation of angiogenesis [GO:0016525]; negative regulation of apoptotic process involved in outflow tract morphogenesis [GO:1902257]; negative regulation of lymphangiogenesis [GO:1901491]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural crest cell development [GO:0014032]; Notch signaling pathway [GO:0007219]; odontogenesis of dentin-containing tooth [GO:0042475]; ovarian follicle development [GO:0001541]; paraxial mesoderm formation [GO:0048341]; positive regulation of core promoter binding [GO:1904798]; positive regulation of DNA binding [GO:0043388]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of hematopoietic progenitor cell differentiation [GO:1901534]; positive regulation of hematopoietic stem cell differentiation [GO:1902038]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of blood vessel size [GO:0050880]; regulation of organ growth [GO:0046620]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; somitogenesis [GO:0001756]; ureteric bud development [GO:0001657]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; vascular endothelial growth factor signaling pathway [GO:0038084]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]

snps:
rs104893953 rs886039568 rs104893954 rs917382067 rs104893951 rs104893958 rs483352810 rs1085307884 rs121909338 rs104893957 rs79691946 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11782474, ECO:0000269|PubMed:14578375, ECO:0000269|PubMed:15277473, ECO:0000269|PubMed:15299087, ECO:0000269|PubMed:15684392, ECO:0000269|PubMed:16449236, ECO:0000269|PubMed:17210863, ECO:0000269|PubMed:19279310, ECO:0000269|PubMed:19793056, ECO:0000269|PubMed:20406990, ECO:0000269|PubMed:25786029, ECO:0000269|PubMed:26565916, ECO:0000269|PubMed:27804176}. Note=Colocalizes with PITX2 isoform 3 in the nucleus at subnuclear chromatine regions (PubMed:16449236). Colocalizes with CBX5 to a heterochromatin-rich region of the nucleus (PubMed:15684392). Colocalizes with GLI2 in the nucleus (By similarity). {ECO:0000250|UniProtKB:Q61572, ECO:0000269|PubMed:15684392, ECO:0000269|PubMed:16449236}.


uniprotID: Q12950
geneSymbol: FOXD4
length: 439
go: ENSG00000170122;
snps: rs10959293 rs2492216 rs7031810
location: SUBCELLULAR LOCATION: Nucleus.
name:
Forkhead box protein D4 (Forkhead-related protein FKHL9) (Forkhead-related transcription factor 5) (FREAC-5) (Myeloid factor-alpha)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding, bending [GO:0008301]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: O00358
geneSymbol: FOXE1
length: 373
go: ENSG00000178919;
snps: rs28937575 rs104894110 rs104894111 rs762041111 rs538912281
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21177256}.
name:
Forkhead box protein E1 (Forkhead box protein E2) (Forkhead-related protein FKHL15) (HFKH4) (HNF-3/fork head-like protein 5) (HFKL5) (Thyroid transcription factor 2) (TTF-2)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cranial skeletal system development [GO:1904888]; embryonic organ morphogenesis [GO:0048562]; hair follicle morphogenesis [GO:0031069]; hard palate development [GO:0060022]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; pharynx development [GO:0060465]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; soft palate development [GO:0060023]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; thyroid hormone generation [GO:0006590]


uniprotID: A6NKX1
geneSymbol: FAM223B
name: Protein FAM223B
length: 122
sequence:
MYVQEHRLWGLMDKPHSAPCLMSLSLSFLICNKGRNAIRVQQSTDERMDAMLLRQCPTQGTRKNHESNSSLHHVPNWIFHSTIIPPNKGSKRCLRKVDWLLPRAGGVGGKRGVTADGDRVSF


uniprotID: Q96D05
geneSymbol: FAM241B
name: Uncharacterized protein FAM241B
length: 121
go: ENSG00000171224;
opentargets: integral component of membrane [GO:0016021]
sequence:
MVRILANGEIVQDDDPRVRTTTQPPRGSIPRQSFFNRGHGAPPGGPGPRQQQAGARLGAAQSPFNDLNRQLVNMGFPQWHLGNHAVEPVTSILLLFLLMMLGVRGLLLVGLVYLVSHLSQR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96D05-1; Sequence=Displayed; Name=2; IsoId=Q96D05-2; Sequence=VSP_042153; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q8N8J7}; Single-pass membrane protein {ECO:0000255}.


uniprotID: O00757
geneSymbol: FBP2
reactome: R-HSA-70263;
pdb: 3IFA;3IFC;4HE0;4HE1;4HE2;5ET5;5ET6;5ET7;5ET8;5K54;5K55;5K56;5L0A;
length: 339
go: ENSG00000130957;
snps: rs573212
name:
Fructose-1,6-bisphosphatase isozyme 2 (FBPase 2) (EC 3.1.3.11) (D-fructose-1,6-bisphosphate 1-phosphohydrolase 2) (Muscle FBPase)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; Z disc [GO:0030018]; fructose 1,6-bisphosphate 1-phosphatase activity [GO:0042132]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; fructose 1,6-bisphosphate metabolic process [GO:0030388]; fructose 6-phosphate metabolic process [GO:0006002]; fructose metabolic process [GO:0006000]; gluconeogenesis [GO:0006094]; sucrose biosynthetic process [GO:0005986]

location:
SUBCELLULAR LOCATION: Cell junction {ECO:0000250}. Cytoplasm. Nucleus. Cytoplasm, myofibril, sarcomere, Z line. Note=In neonatal cardiomyocytes, distributed throughout the cytosol, accumulating in the intercalated disks which occur at the Z line of cardiomyocytes and connect adjacent cells, and also located in the nucleus; dissociates from the Z line following an increase in cytosolic Ca(2+) concentration (By similarity). In muscle precursor cells, localizes predominantly to the nucleus and to a lesser extent to the cytoplasm at the proliferative phase, while mainly localizing to the cytoplasm at the differentiation phase (By similarity). Colocalizes with ALDOA and alpha-actinin on both sides of the Z line of skeletal muscle; dissociates rapidly from the Z line following an increase in cytosolic Ca(2+) concentration. {ECO:0000250}.


uniprotID: Q9BQN1
geneSymbol: FAM83C
name: Protein FAM83C
length: 747
go: ENSG00000125998;
opentargets: protein kinase binding [GO:0019901]
snps: rs35162625 rs35560631 rs2425049 rs35518957
sequence:


uniprotID: Q8IXS0
geneSymbol: FAM217A
name: Protein FAM217A
length: 508
go: ENSG00000145975;
snps: rs639905 rs10080405 rs17137618 rs595413 rs10485172
sequence:


uniprotID: Q5JRC9
geneSymbol: FAM47A
name: Protein FAM47A
length: 791
go: ENSG00000185448;
snps: rs17856750 rs17856751 rs1811716 rs5971820
sequence:


uniprotID: O94915
geneSymbol: FRYL
name: Protein furry homolog-like (ALL1-fused gene from chromosome 4p12 protein)
length: 3013
go: ENSG00000075539;
snps: rs376571442 rs7670111
sequence:

opentargets:
cell cortex [GO:0005938]; cell morphogenesis [GO:0000902]; neuron projection development [GO:0031175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94915-1; Sequence=Displayed; Name=2; IsoId=O94915-2; Sequence=VSP_023038, VSP_023039; 


uniprotID: Q8N6M3
geneSymbol: FITM2
reactome: R-HSA-8964572;
name: Fat storage-inducing transmembrane protein 2 (Fat-inducing protein 2)
length: 262
go: ENSG00000197296;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; cellular triglyceride homeostasis [GO:0035356]; cytoskeleton organization [GO:0007010]; lipid droplet organization [GO:0034389]; phospholipid biosynthetic process [GO:0008654]; positive regulation of sequestering of triglyceride [GO:0010890]; regulation of cell morphogenesis [GO:0022604]; regulation of triglyceride biosynthetic process [GO:0010866]; sequestering of triglyceride [GO:0030730]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18160536}; Multi-pass membrane protein {ECO:0000269|PubMed:18160536}.


uniprotID: Q9NYL4
geneSymbol: FKBP11
length: 201
go: ENSG00000134285;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Peptidyl-prolyl cis-trans isomerase FKBP11 (PPIase FKBP11) (EC 5.2.1.8) (19 kDa FK506-binding protein) (19 kDa FKBP) (FKBP-19) (FK506-binding protein 11) (FKBP-11) (Rotamase)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYL4-1; Sequence=Displayed; Name=2; IsoId=Q9NYL4-2; Sequence=VSP_043037; Note=No experimental confirmation available.; 


uniprotID: P55318
geneSymbol: FOXA3
reactome: R-HSA-210745;
pdb: 1VTN;
length: 350
go: ENSG00000170608;
snps: rs758330593
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:19706729}.
name:
Hepatocyte nuclear factor 3-gamma (HNF-3-gamma) (HNF-3G) (Fork head-related protein FKH H3) (Forkhead box protein A3) (Transcription factor 3G) (TCF-3G)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; cellular glucose homeostasis [GO:0001678]; cellular response to starvation [GO:0009267]; chromatin organization [GO:0006325]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; spermatogenesis [GO:0007283]


uniprotID: Q5JSP0
geneSymbol: FGD3
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
pdb: 2COC;
name: FYVE, RhoGEF and PH domain-containing protein 3 (Zinc finger FYVE domain-containing protein 5)
length: 725
go: ENSG00000127084;
snps: rs3802384
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; ruffle [GO:0001726]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; small GTPase binding [GO:0031267]; actin cytoskeleton organization [GO:0030036]; cytoskeleton organization [GO:0007010]; filopodium assembly [GO:0046847]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JSP0-1; Sequence=Displayed; Name=2; IsoId=Q5JSP0-2; Sequence=VSP_013074, VSP_013075; Note=No experimental confirmation available.; Name=3; IsoId=Q5JSP0-3; Sequence=VSP_055703; Note=No experimental confirmation available.; 


uniprotID: A0AVI2
geneSymbol: FER1L5
name: Fer-1-like protein 5
length: 2057
go: ENSG00000249715;
snps: rs4907201 rs7599598
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; myoblast fusion [GO:0007520]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A0AVI2-1; Sequence=Displayed; Note=Gene prediction based on partial mRNA data. {ECO:0000305}; Name=2; IsoId=A0AVI2-2; Sequence=VSP_031852; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=A0AVI2-4; Sequence=VSP_031852, VSP_059071; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=Colocalizes with EHD1 and EHD2 at plasma membrane in myoblasts and myotubes. Localizes into foci at the plasma membrane (By similarity). {ECO:0000250}.


uniprotID: Q5VYV0
geneSymbol: FOXB2
name: Forkhead box protein B2
length: 432
go: ENSG00000204612;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q6ZQN5
geneSymbol: FOXI2
name: Forkhead box protein I2
length: 318
go: ENSG00000186766;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P42685
geneSymbol: FRK
reactome: R-HSA-6798695;R-HSA-8948751;
length: 505
go: ENSG00000111816;
drug: DB08896;
snps: rs34704018 rs3756772 rs34064900
name:
Tyrosine-protein kinase FRK (EC 2.7.10.2) (FYN-related kinase) (Nuclear tyrosine protein kinase RAK) (Protein-tyrosine kinase 5)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; intracellular [GO:0005622]; nucleus [GO:0005634]; specific granule lumen [GO:0035580]; ATP binding [GO:0005524]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein tyrosine kinase activity [GO:0004713]; signaling receptor binding [GO:0005102]; cell differentiation [GO:0030154]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neutrophil degranulation [GO:0043312]; peptidyl-tyrosine autophosphorylation [GO:0038083]; protein phosphorylation [GO:0006468]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P42685-1; Sequence=Displayed; Name=2; IsoId=P42685-2; Sequence=VSP_056496, VSP_056497; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7696183}. Nucleus {ECO:0000269|PubMed:7696183}. Note=Predominantly found in the nucleus, with a small fraction found in the cell periphery.


uniprotID: Q12952
geneSymbol: FOXL1
length: 345
go: ENSG00000176678;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Forkhead box protein L1 (Forkhead-related protein FKHL11) (Forkhead-related transcription factor 7) (FREAC-7)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA binding, bending [GO:0008301]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; heart development [GO:0007507]; multicellular organism development [GO:0007275]; Peyer's patch morphogenesis [GO:0061146]; proteoglycan biosynthetic process [GO:0030166]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of Wnt signaling pathway [GO:0030111]; visceral mesoderm-endoderm interaction involved in midgut development [GO:0007495]


uniprotID: Q68DX3
geneSymbol: FRMPD2
length: 1309
go: ENSG00000170324;
snps: rs11101272 rs55802136 rs116143480 rs1864345 rs115907611 rs1898784
name:
FERM and PDZ domain-containing protein 2 (PDZ domain-containing protein 4) (PDZ domain-containing protein 5C)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; 1-phosphatidylinositol binding [GO:0005545]; bicellular tight junction assembly [GO:0070830]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q68DX3-1; Sequence=Displayed; Name=2; IsoId=Q68DX3-2; Sequence=VSP_028523, VSP_028524, VSP_028527; Note=No experimental confirmation available.; Name=3; IsoId=Q68DX3-3; Sequence=VSP_028525, VSP_028526; Note=No experimental confirmation available.; Name=4; IsoId=Q68DX3-4; Sequence=VSP_028522, VSP_028528; Name=5; IsoId=Q68DX3-5; Sequence=VSP_028521; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Basolateral cell membrane {ECO:0000269|PubMed:19706687}. Cell junction, tight junction {ECO:0000269|PubMed:19706687}. Note=Colocalizes with CTNNB1, CDH1 and PKP4 at the basolateral membrane. Colocalizes with TJP1 at tight junctions. Its recruitment to cell-cell contacts requires CDH1.


uniprotID: Q13461
geneSymbol: FOXE3
length: 319
go: ENSG00000186790;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25504734}.
name:
Forkhead box protein E3 (Forkhead-related protein FKHL12) (Forkhead-related transcription factor 8) (FREAC-8)

sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; cell development [GO:0048468]; cell differentiation [GO:0030154]; ciliary body morphogenesis [GO:0061073]; cornea development in camera-type eye [GO:0061303]; eye development [GO:0001654]; iris morphogenesis [GO:0061072]; lens development in camera-type eye [GO:0002088]; mRNA transcription by RNA polymerase II [GO:0042789]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of lens fiber cell differentiation [GO:1902747]; positive regulation of lens epithelial cell proliferation [GO:2001111]; regulation of transcription by RNA polymerase II [GO:0006357]; trabecular meshwork development [GO:0002930]; transcription by RNA polymerase II [GO:0006366]

snps:
rs566961335 rs746531116 rs371048362 rs1057518738 rs1057518737 rs749960549 rs367943249 rs281865461 rs552420470 


uniprotID: Q12946
geneSymbol: FOXF1
length: 379
go: ENSG00000103241;
snps: rs761162914
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Forkhead box protein F1 (Forkhead-related activator 1) (FREAC-1) (Forkhead-related protein FKHL5) (Forkhead-related transcription factor 1)

sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; blood vessel development [GO:0001568]; cardiac left ventricle morphogenesis [GO:0003214]; cell-cell adhesion [GO:0098609]; cellular response to cytokine stimulus [GO:0071345]; cellular response to organic cyclic compound [GO:0071407]; detection of wounding [GO:0014822]; determination of left/right symmetry [GO:0007368]; digestive tract development [GO:0048565]; ductus arteriosus closure [GO:0097070]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic ectodermal digestive tract morphogenesis [GO:0048613]; embryonic foregut morphogenesis [GO:0048617]; endocardial cushion development [GO:0003197]; epithelial cell differentiation involved in mammary gland alveolus development [GO:0061030]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; establishment of epithelial cell apical/basal polarity [GO:0045198]; extracellular matrix organization [GO:0030198]; heart development [GO:0007507]; in utero embryonic development [GO:0001701]; lateral mesodermal cell differentiation [GO:0048371]; lung alveolus development [GO:0048286]; lung development [GO:0030324]; lung lobe morphogenesis [GO:0060463]; lung vasculature development [GO:0060426]; mesenchyme migration [GO:0090131]; midgut development [GO:0007494]; morphogenesis of a branching structure [GO:0001763]; negative regulation of inflammatory response [GO:0050728]; negative regulation of mast cell degranulation [GO:0043305]; negative regulation of transcription by RNA polymerase II [GO:0000122]; pancreas development [GO:0031016]; positive regulation of cell migration [GO:0030335]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of smooth muscle cell differentiation [GO:0051150]; renal system development [GO:0072001]; respiratory tube development [GO:0030323]; right lung morphogenesis [GO:0060461]; smooth muscle cell differentiation [GO:0051145]; smoothened signaling pathway [GO:0007224]; somitogenesis [GO:0001756]; trachea development [GO:0060438]; ureter development [GO:0072189]; vasculogenesis [GO:0001570]; venous blood vessel development [GO:0060841]


uniprotID: Q92949
geneSymbol: FOXJ1
length: 421
go: ENSG00000129654;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q61660}.
name:
Forkhead box protein J1 (Forkhead-related protein FKHL13) (Hepatocyte nuclear factor 3 forkhead homolog 4) (HFH-4)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; actin cytoskeleton organization [GO:0030036]; activation of GTPase activity [GO:0090630]; brain development [GO:0007420]; central tolerance induction [GO:0002508]; cilium assembly [GO:0060271]; determination of left/right symmetry [GO:0007368]; epithelium development [GO:0060429]; establishment of apical/basal cell polarity [GO:0035089]; glomerular parietal epithelial cell development [GO:0072016]; heart development [GO:0007507]; humoral immune response [GO:0006959]; left/right pattern formation [GO:0060972]; leukocyte migration [GO:0050900]; lung epithelium development [GO:0060428]; metanephric part of ureteric bud development [GO:0035502]; motile cilium assembly [GO:0044458]; negative regulation of B cell activation [GO:0050869]; negative regulation of germinal center formation [GO:0002635]; negative regulation of humoral immune response mediated by circulating immunoglobulin [GO:0002924]; negative regulation of interleukin-6 biosynthetic process [GO:0045409]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of T cell differentiation in thymus [GO:0033085]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of transcription by RNA polymerase II [GO:0000122]; pattern specification process [GO:0007389]; positive regulation of central B cell tolerance induction [GO:0002897]; positive regulation of lung ciliated cell differentiation [GO:1901248]; positive regulation of transcription by RNA polymerase II [GO:0045944]; spermatogenesis [GO:0007283]


uniprotID: Q9P0K8
geneSymbol: FOXJ2
name: Forkhead box protein J2 (Fork head homologous X)
length: 574
go: ENSG00000065970;
snps: rs35642012 rs2277415
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
fibrillar center [GO:0001650]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; 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]; negative regulation of angiogenesis [GO:0016525]; negative regulation of blood vessel endothelial cell differentiation [GO:0110059]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=FOXJ2.L; Synonyms=FHX.L; IsoId=Q9P0K8-1; Sequence=Displayed; Name=FOXJ2.S; Synonyms=FHX.S; IsoId=Q9P0K8-2; Sequence=VSP_001544; 


uniprotID: Q12947
geneSymbol: FOXF2
length: 444
go: ENSG00000137273;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Forkhead box protein F2 (Forkhead-related activator 2) (FREAC-2) (Forkhead-related protein FKHL6) (Forkhead-related transcription factor 2)

sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; 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]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; embryonic camera-type eye morphogenesis [GO:0048596]; embryonic digestive tract development [GO:0048566]; epithelial to mesenchymal transition [GO:0001837]; establishment of planar polarity of embryonic epithelium [GO:0042249]; extracellular matrix organization [GO:0030198]; genitalia development [GO:0048806]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; roof of mouth development [GO:0060021]


uniprotID: Q8NA03
geneSymbol: FSIP1
name: Fibrous sheath-interacting protein 1
length: 581
go: ENSG00000150667;
snps: rs1166719 rs937961 rs16969673 rs10152640 rs12908846 rs16969386
sequence:


uniprotID: P55316
geneSymbol: FOXG1
length: 489
go: ENSG00000176165;
snps: rs398124203 rs267606828 rs786205009
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:21280142}.
name:
Forkhead box protein G1 (Brain factor 1) (BF-1) (BF1) (Brain factor 2) (BF-2) (BF2) (hBF-2) (Forkhead box protein G1A) (Forkhead box protein G1B) (Forkhead box protein G1C) (Forkhead-related protein FKHL1) (HFK1) (Forkhead-related protein FKHL2) (HFK2) (Forkhead-related protein FKHL3) (HFK3)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; aging [GO:0007568]; brain development [GO:0007420]; negative regulation of transcription, DNA-templated [GO:0045892]


uniprotID: Q9UPW0
geneSymbol: FOXJ3
name: Forkhead box protein J3
length: 622
go: ENSG00000198815;
snps: rs343376 rs1139978
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPW0-1; Sequence=Displayed; Name=2; IsoId=Q9UPW0-2; Sequence=VSP_010367; 


uniprotID: Q9Y261
geneSymbol: FOXA2
reactome: R-HSA-210745;
pdb: 5X07;
length: 457
go: ENSG00000125798;
snps: rs199796119
name:
Hepatocyte nuclear factor 3-beta (HNF-3-beta) (HNF-3B) (Forkhead box protein A2) (Transcription factor 3B) (TCF-3B)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; adult locomotory behavior [GO:0008344]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; cell fate specification [GO:0001708]; chromatin organization [GO:0006325]; dopaminergic neuron differentiation [GO:0071542]; endocrine pancreas development [GO:0031018]; negative regulation of detection of glucose [GO:2000971]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of glucokinase activity [GO:0033132]; negative regulation of transcription from RNA polymerase II promoter by glucose [GO:0061987]; positive regulation of cell-cell adhesion mediated by cadherin [GO:2000049]; positive regulation of embryonic development [GO:0040019]; positive regulation of gastrulation [GO:2000543]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter by glucose [GO:0000432]; positive regulation of transcription, DNA-templated [GO:0045893]; primitive streak formation [GO:0090009]; regulation of blood coagulation [GO:0030193]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; regulation of transcription by RNA polymerase II [GO:0006357]; response to interleukin-6 [GO:0070741]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y261-1; Sequence=Displayed; Name=2; IsoId=Q9Y261-2; Sequence=VSP_041212; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:14500912}. Cytoplasm {ECO:0000269|PubMed:14500912}. Note=Shuttles between the nucleus and cytoplasm in a CRM1-dependent manner; in response to insulin signaling via AKT1 is exported from the nucleus.


uniprotID: Q8IVH2
geneSymbol: FOXP4
name: Forkhead box protein P4 (Fork head-related protein-like A)
length: 680
go: ENSG00000137166;
snps: rs867245225
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IVH2-1; Sequence=Displayed; Name=2; IsoId=Q8IVH2-2; Sequence=VSP_043034; Note=No experimental confirmation available.; Name=3; IsoId=Q8IVH2-3; Sequence=VSP_043465, VSP_043466; Note=No experimental confirmation available.; 


uniprotID: Q99853
geneSymbol: FOXB1
name: Forkhead box protein B1 (Transcription factor FKH-5)
length: 325
go: ENSG00000171956;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; axon target recognition [GO:0007412]; cell differentiation [GO:0030154]; cell migration in diencephalon [GO:0061381]; epithelial cell differentiation involved in mammary gland alveolus development [GO:0061030]; floor plate development [GO:0033504]; hypothalamus cell migration [GO:0021855]; inferior colliculus development [GO:0061379]; lactation [GO:0007595]; mammary gland lobule development [GO:0061377]; mammillary body development [GO:0021767]; mammillothalamic axonal tract development [GO:0061374]; midbrain development [GO:0030901]; negative regulation of neuron apoptotic process [GO:0043524]; regulation of transcription by RNA polymerase II [GO:0006357]; somitogenesis [GO:0001756]; spinal cord development [GO:0021510]; telencephalon cell migration [GO:0022029]; thalamus development [GO:0021794]; urogenital system development [GO:0001655]; visual learning [GO:0008542]


uniprotID: Q12951
geneSymbol: FOXI1
length: 378
go: ENSG00000168269;
snps: rs35678180 rs3828625
location: SUBCELLULAR LOCATION: Nucleus.
name:
Forkhead box protein I1 (Forkhead-related protein FKHL10) (Forkhead-related transcription factor 6) (FREAC-6) (Hepatocyte nuclear factor 3 forkhead homolog 3) (HFH-3) (HNF-3/fork-head homolog 3)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA binding, bending [GO:0008301]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; 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 regulatory region DNA binding [GO:0044212]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; embryo development ending in birth or egg hatching [GO:0009792]; inner ear morphogenesis [GO:0042472]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12951-1; Sequence=Displayed; Name=2; IsoId=Q12951-2; Sequence=VSP_001543; Note=No experimental confirmation available.; 


uniprotID: Q16595
geneSymbol: FXN
reactome: R-HSA-1268020;R-HSA-1362409;
pdb: 1EKG;1LY7;3S4M;3S5D;3S5E;3S5F;3T3J;3T3K;3T3L;3T3T;3T3X;5KZ5;
length: 210
go: ENSG00000165060;
name:
Frataxin, mitochondrial (EC 1.16.3.1) (Friedreich ataxia protein) (Fxn) [Cleaved into: Frataxin intermediate form (i-FXN); Frataxin(56-210) (m56-FXN); Frataxin(78-210) (d-FXN) (m78-FXN); Frataxin mature form (Frataxin(81-210)) (m81-FXN)]

sequence:

opentargets:
cytosol [GO:0005829]; L-cysteine desulfurase complex [GO:1990221]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 2 iron, 2 sulfur cluster binding [GO:0051537]; ferric iron binding [GO:0008199]; ferrous iron binding [GO:0008198]; ferroxidase activity [GO:0004322]; iron chaperone activity [GO:0034986]; adult walking behavior [GO:0007628]; aerobic respiration [GO:0009060]; cellular iron ion homeostasis [GO:0006879]; cellular response to hydrogen peroxide [GO:0070301]; embryo development ending in birth or egg hatching [GO:0009792]; heme biosynthetic process [GO:0006783]; ion transport [GO:0006811]; iron incorporation into metallo-sulfur cluster [GO:0018283]; iron-sulfur cluster assembly [GO:0016226]; mitochondrion organization [GO:0007005]; negative regulation of apoptotic process [GO:0043066]; negative regulation of multicellular organism growth [GO:0040015]; negative regulation of organ growth [GO:0046621]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; oxidative phosphorylation [GO:0006119]; positive regulation of aconitate hydratase activity [GO:1904234]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of lyase activity [GO:0051349]; positive regulation of succinate dehydrogenase activity [GO:1904231]; proprioception [GO:0019230]; protein autoprocessing [GO:0016540]; regulation of ferrochelatase activity [GO:0010722]; response to iron ion [GO:0010039]; small molecule metabolic process [GO:0044281]

snps:
rs104894105 rs142157346 rs104894107 rs104894106 rs138471431 rs138034837 rs139616452 rs144104124 rs1052195 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16595-1; Sequence=Displayed; Name=2; IsoId=Q16595-2; Sequence=VSP_001576; Note=Not highly expressed and may be artifactual.; Name=3; IsoId=Q16595-3; Sequence=VSP_047282; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15581888, ECO:0000269|PubMed:16091420, ECO:0000269|PubMed:16608849, ECO:0000269|PubMed:18725397, ECO:0000269|PubMed:20053667, ECO:0000269|PubMed:9241270, ECO:0000269|PubMed:9302253}. Cytoplasm, cytosol {ECO:0000269|PubMed:16091420, ECO:0000269|PubMed:16608849, ECO:0000269|PubMed:20053667}. Note=PubMed:18725397 reports localization exclusively in mitochondria. {ECO:0000305|PubMed:18725397}.


uniprotID: O43559
geneSymbol: FRS3
reactome: R-HSA-5654693;R-HSA-5654700;R-HSA-5654706;R-HSA-5654712;R-HSA-5673001;R-HSA-9028731;
pdb: 2KUP;2KUQ;2YS5;2YT2;
length: 492
go: ENSG00000137218;
snps: rs3747747
location: SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
name:
Fibroblast growth factor receptor substrate 3 (FGFR substrate 3) (FGFR-signaling adaptor SNT2) (Suc1-associated neurotrophic factor target 2) (SNT-2)

sequence:

opentargets:
intracellular [GO:0005622]; plasma membrane [GO:0005886]; fibroblast growth factor receptor binding [GO:0005104]; identical protein binding [GO:0042802]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; signal transduction [GO:0007165]


uniprotID: Q92837
geneSymbol: FRAT1
reactome: R-HSA-196299;R-HSA-4641262;
pdb: 1GNG;3ZRK;3ZRL;3ZRM;4AFJ;5OY4;
name: Proto-oncogene FRAT1 (Frequently rearranged in advanced T-cell lymphomas 1) (FRAT-1)
length: 279
go: ENSG00000165879;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; beta-catenin destruction complex disassembly [GO:1904886]; canonical Wnt signaling pathway [GO:0060070]; positive regulation of canonical Wnt signaling pathway [GO:0090263]


uniprotID: Q5SYB0
geneSymbol: FRMPD1
pdb: 2EDV;4G2V;
name: FERM and PDZ domain-containing protein 1 (FERM domain-containing protein 2)
length: 1578
go: ENSG00000070601;
snps: rs3747539 rs2296556 rs7031966 rs1359590 rs34233395 rs35075933
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; establishment of protein localization to membrane [GO:0090150]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5SYB0-1; Sequence=Displayed; Name=2; IsoId=Q5SYB0-2; Sequence=VSP_056060, VSP_056063, VSP_056064; Note=No experimental confirmation available.; Name=3; IsoId=Q5SYB0-3; Sequence=VSP_056061, VSP_056062, VSP_056063, VSP_056064; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:18566450}. Cell membrane {ECO:0000269|PubMed:18566450}; Peripheral membrane protein {ECO:0000269|PubMed:18566450}; Cytoplasmic side {ECO:0000269|PubMed:18566450}. Note=Found both in the cytoplasm and associated with the cell membrane. {ECO:0000269|PubMed:18566450}.


uniprotID: Q8N0W3
geneSymbol: FUK
reactome: R-HSA-6787639;
name: L-fucose kinase (Fucokinase) (EC 2.7.1.52)
length: 1084
go: ENSG00000157353;
snps: rs17881323 rs17881069 rs17886171 rs17883716 rs17884050 rs17878599 rs17881635 rs17886060 rs17883248
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; fucokinase activity [GO:0050201]; carbohydrate phosphorylation [GO:0046835]; GDP-L-fucose salvage [GO:0042352]; response to dopamine [GO:1903350]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N0W3-1; Sequence=Displayed; Name=2; IsoId=Q8N0W3-2; Sequence=VSP_015422, VSP_015423; Note=No experimental confirmation available.; 


uniprotID: P59646
geneSymbol: FXYD4
reactome: R-HSA-5578775;R-HSA-936837;
name: FXYD domain-containing ion transport regulator 4
sequence: MERVTLALLLLAGLTALEANDPFANKDDPFYYDWKNLQLSGLICGGLLAIAGIAAVLSGKCKCKSSQKQHSPVPEKAIPLITPGSATTC
length: 89
go: ENSG00000150201;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
opentargets:
plasma membrane [GO:0005886]; sodium:potassium-exchanging ATPase complex [GO:0005890]; ATPase binding [GO:0051117]; potassium channel activity [GO:0005267]; sodium channel regulator activity [GO:0017080]; regulation of sodium ion transmembrane transporter activity [GO:2000649]


uniprotID: Q8TC99
geneSymbol: FNDC8
name: Fibronectin type III domain-containing protein 8
length: 324
go: ENSG00000073598;
opentargets: nucleus [GO:0005634]
snps: rs1871892 rs12952106
sequence:


uniprotID: O75593
geneSymbol: FOXH1
reactome: R-HSA-1181150;R-HSA-1502540;
pdb: 5XOC;
length: 365
go: ENSG00000160973;
snps: rs144830740 rs112028242
location: SUBCELLULAR LOCATION: Nucleus.
name:
Forkhead box protein H1 (Forkhead activin signal transducer 1) (Fast-1) (hFAST-1) (Forkhead activin signal transducer 2) (Fast-2)

sequence:

opentargets:
activin responsive factor complex [GO:0032444]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; androgen receptor binding [GO:0050681]; bHLH transcription factor binding [GO:0043425]; co-SMAD binding [GO:0070410]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer binding [GO:0035326]; protein domain specific binding [GO:0019904]; R-SMAD binding [GO:0070412]; sequence-specific DNA binding [GO:0043565]; SMAD binding [GO:0046332]; transcription regulatory region DNA binding [GO:0044212]; aorta morphogenesis [GO:0035909]; axial mesoderm development [GO:0048318]; cardiac right ventricle morphogenesis [GO:0003215]; cellular response to cytokine stimulus [GO:0071345]; embryonic heart tube anterior/posterior pattern specification [GO:0035054]; heart looping [GO:0001947]; negative regulation of androgen receptor activity [GO:2000824]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry [GO:1900164]; outflow tract morphogenesis [GO:0003151]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; secondary heart field specification [GO:0003139]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ventricular trabecula myocardium morphogenesis [GO:0003222]


uniprotID: P85037
geneSymbol: FOXK1
reactome: R-HSA-5689603;
name: Forkhead box protein K1 (Myocyte nuclear factor) (MNF)
length: 733
go: ENSG00000164916;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; cell differentiation [GO:0030154]; muscle organ development [GO:0007517]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15202027, ECO:0000269|PubMed:15289879}; Synonyms=a {ECO:0000269|PubMed:15289879}; IsoId=P85037-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:15289879}; Synonyms=b {ECO:0000269|PubMed:15289879}; IsoId=P85037-2; Sequence=VSP_052239, VSP_052240; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25852164}. Cytoplasm {ECO:0000269|PubMed:25852164}. Note=(Microbial infection) Accumulates in the nucleus upon viral infection. {ECO:0000269|PubMed:25852164}.


uniprotID: A8MYZ6
geneSymbol: FOXO6
name: Forkhead box protein O6
length: 492
go: ENSG00000204060;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; glucose homeostasis [GO:0042593]; insulin receptor signaling pathway [GO:0008286]; memory [GO:0007613]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}. Note=When phosphorylated, translocated from nucleus to cytoplasm. High nuclear localization after stimulation with growth factors (By similarity). {ECO:0000250}.


uniprotID: Q8TBE3
geneSymbol: FNDC9
name: Fibronectin type III domain-containing protein 9
length: 224
go: ENSG00000172568;
opentargets: integral component of membrane [GO:0016021]
snps: rs17852104 rs10037485 rs17054522
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6ZUT3
geneSymbol: FRMD7
name: FERM domain-containing protein 7
length: 714
go: ENSG00000165694;
sequence:

opentargets:
cytoskeleton [GO:0005856]; extracellular space [GO:0005615]; growth cone [GO:0030426]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; negative regulation of protein binding [GO:0032091]; negative regulation of stress fiber assembly [GO:0051497]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of small GTPase mediated signal transduction [GO:0051057]; regulation of neuron projection development [GO:0010975]

snps:
rs137852210 rs137852211 rs780995406 rs137852212 rs137852212 rs387906720 rs1332489637 rs387906721 rs5977625 rs1297486092 rs6637934 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZUT3-1; Sequence=Displayed; Name=2; Synonyms=S; IsoId=Q6ZUT3-2; Sequence=VSP_038722; Note=May play a role during neuronal differentiation and development. Shares a similar tissue distribution, co-localize with, and interact with isoform 1 in NT2 cells.; 

location:
SUBCELLULAR LOCATION: Cell projection {ECO:0000250|UniProtKB:A2AD83}. Cell projection, growth cone {ECO:0000250|UniProtKB:A2AD83}. Note=In undifferentiated neurons, located in the actin-rich regions of the cell body. In differentiated neurons, located in the actin-rich regions of the cell body and primary neurite processes but is almost absent from secondary extensions arising from the primary neurite. Also found at the actin-rich distal end of growth cones (By similarity). {ECO:0000250|UniProtKB:A2AD83}.


uniprotID: Q04609
geneSymbol: FOLH1
reactome: R-HSA-70614;
length: 750
go: ENSG00000086205;
drug: DB06928;DB00089;DB00142;DB07754;
snps: rs202676 rs61886492 rs2988342
pdb:
1Z8L;2C6C;2C6G;2C6P;2CIJ;2JBJ;2JBK;2OOT;2OR4;2PVV;2PVW;2XEF;2XEG;2XEI;2XEJ;3BHX;3BI0;3BI1;3BXM;3D7D;3D7F;3D7G;3D7H;3IWW;3RBU;3SJE;3SJF;3SJG;3SJX;4JYW;4JZ0;4LQG;4MCP;4MCQ;4MCR;4MCS;4NGM;4NGN;4NGP;4NGQ;4NGR;4NGS;4NGT;4OC0;4OC1;4OC2;4OC3;4OC4;4OC5;4OME;4P44;4P45;4P4B;4P4D;4P4E;4P4F;4P4I;4P4J;4W9Y;4X3R;5D29;5ELY;5F09;5O5R;5O5T;5O5U;5OF0;

name:
Glutamate carboxypeptidase 2 (EC 3.4.17.21) (Cell growth-inhibiting gene 27 protein) (Folate hydrolase 1) (Folylpoly-gamma-glutamate carboxypeptidase) (FGCP) (Glutamate carboxypeptidase II) (GCPII) (Membrane glutamate carboxypeptidase) (mGCP) (N-acetylated-alpha-linked acidic dipeptidase I) (NAALADase I) (Prostate-specific membrane antigen) (PSM) (PSMA) (Pteroylpoly-gamma-glutamate carboxypeptidase)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; Ac-Asp-Glu binding [GO:1904492]; dipeptidase activity [GO:0016805]; metal ion binding [GO:0046872]; metallocarboxypeptidase activity [GO:0004181]; peptidase activity [GO:0008233]; tetrahydrofolyl-poly(glutamate) polymer binding [GO:1904493]; C-terminal protein deglutamylation [GO:0035609]; cellular amino acid biosynthetic process [GO:0008652]; folic acid-containing compound metabolic process [GO:0006760]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=PSMA-1; IsoId=Q04609-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=PSMA-3; IsoId=Q04609-3; Sequence=VSP_040242, VSP_040245; Note=No experimental confirmation available. Incomplete sequence.; Name=PSMA-4; IsoId=Q04609-4; Sequence=VSP_040241, VSP_040243, VSP_040244; Note=No experimental confirmation available. Incomplete sequence.; Name=PSMA'; IsoId=Q04609-6; Sequence=VSP_005336; Name=PSMA-7; IsoId=Q04609-7; Sequence=VSP_038058; Name=PSMA-8; IsoId=Q04609-8; Sequence=VSP_038059; Name=PSMA-9; Synonyms=PSM-E; IsoId=Q04609-9; Sequence=VSP_038058, VSP_038059; Name=10; IsoId=Q04609-10; Sequence=VSP_044287; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9809977}; Single-pass type II membrane protein {ECO:0000269|PubMed:9809977}.; SUBCELLULAR LOCATION: Isoform PSMA': Cytoplasm {ECO:0000269|PubMed:9809977}.


uniprotID: P25089
geneSymbol: FPR3
reactome: R-HSA-418594;R-HSA-444473;
name: N-formyl peptide receptor 3 (FMLP-related receptor II) (FMLP-R-II) (Formyl peptide receptor-like 2)
length: 353
go: ENSG00000187474;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; N-formyl peptide receptor activity [GO:0004982]; chemotaxis [GO:0006935]; complement receptor mediated signaling pathway [GO:0002430]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; signal transduction [GO:0007165]


uniprotID: O60548
geneSymbol: FOXD2
length: 495
go: ENSG00000186564;
snps: rs2405913
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
name:
Forkhead box protein D2 (Forkhead-related protein FKHL17) (Forkhead-related transcription factor 9) (FREAC-9)

sequence:

opentargets:
nucleus [GO:0005634]; 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]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P04406
geneSymbol: GAPDH
reactome: R-HSA-70171;R-HSA-70263;
pdb: 1U8F;1ZNQ;2FEH;3GPD;4WNC;4WNI;6ADE;
length: 335
go: ENSG00000111640;
drug: DB07347;DB02059;DB00157;DB03893;
snps: rs45541435 rs1062429
name:
Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) (EC 1.2.1.12) (Peptidyl-cysteine S-nitrosylase GAPDH) (EC 2.6.99.-)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; GAIT complex [GO:0097452]; intracellular membrane-bounded organelle [GO:0043231]; lipid droplet [GO:0005811]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ribonucleoprotein complex [GO:1990904]; vesicle [GO:0031982]; aspartic-type endopeptidase inhibitor activity [GO:0019828]; disordered domain specific binding [GO:0097718]; glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity [GO:0004365]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; NAD binding [GO:0051287]; NADP binding [GO:0050661]; peptidyl-cysteine S-nitrosylase activity [GO:0035605]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; canonical glycolysis [GO:0061621]; cellular response to interferon-gamma [GO:0071346]; defense response to fungus [GO:0050832]; gluconeogenesis [GO:0006094]; glycolytic process [GO:0006096]; killing by host of symbiont cells [GO:0051873]; killing of cells of other organism [GO:0031640]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of translation [GO:0017148]; neuron apoptotic process [GO:0051402]; peptidyl-cysteine S-trans-nitrosylation [GO:0035606]; positive regulation by organism of apoptotic process in other organism involved in symbiotic interaction [GO:0052501]; positive regulation of cytokine secretion [GO:0050715]; protein stabilization [GO:0050821]; regulation of macroautophagy [GO:0016241]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04406-1; Sequence=Displayed; Name=2; IsoId=P04406-2; Sequence=VSP_047289; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:12829261}. Nucleus {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:12829261}. Membrane {ECO:0000269|PubMed:12829261}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Translocates to the nucleus following S-nitrosylation and interaction with SIAH1, which contains a nuclear localization signal (By similarity). Postnuclear and Perinuclear regions. {ECO:0000250}.


uniprotID: Q5VTL7
geneSymbol: FNDC7
name: Fibronectin type III domain-containing protein 7
length: 733
go: ENSG00000143107;
opentargets: extracellular region [GO:0005576]
snps: rs11582005 rs4494160 rs3006870 rs1277017
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q9BZ67
geneSymbol: FRMD8
name: FERM domain-containing protein 8
length: 464
go: ENSG00000126391;
opentargets: cytoskeleton [GO:0005856]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZ67-1; Sequence=Displayed; Name=2; IsoId=Q9BZ67-2; Sequence=VSP_027085; Note=No experimental confirmation available.; Name=3; IsoId=Q9BZ67-3; Sequence=VSP_056059; Note=No experimental confirmation available.; 


uniprotID: Q96NB1
geneSymbol: FOPNL
length: 174
go: ENSG00000133393;
name:
LisH domain-containing protein FOPNL (FGFR1OP N-terminal-like protein) (FOP-related protein of 20 kDa)

sequence:
MATVAELKAVLKDTLEKKGVLGHLKARIRAEVFNALDDDREPRPSLSHENLLINELIREYLEFNKYKYTASVLIAESGQPVVPLDRQFLIHELNAFEESKDNTIPLLYGILAHFLRGTKDGIQNAFLKGPSLQPSDPSLGRQPSRRKPMDDHLRKEEQKSTNIEDLHVSQAVNR

opentargets:
centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; motile cilium [GO:0031514]; nucleus [GO:0005634]; cilium assembly [GO:0060271]; microtubule anchoring [GO:0034453]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96NB1-1; Sequence=Displayed; Name=2; IsoId=Q96NB1-2; Sequence=VSP_056998; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:26643951}. Cell projection, cilium {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20551181, ECO:0000269|PubMed:24018379}. Cytoplasmic granule {ECO:0000269|PubMed:20551181}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:20551181, ECO:0000269|PubMed:26643951}. Note=Localizes to the centrosome throughout cell cycle progression (PubMed:24018379). Localization to centrioles and pericentriolar satellites may be mediated by KIAA0753/OFIP (PubMed:26643951). {ECO:0000269|PubMed:24018379, ECO:0000269|PubMed:26643951}.


uniprotID: Q13467
geneSymbol: FZD5
reactome: R-HSA-373080;R-HSA-4086398;R-HSA-4608870;R-HSA-4641262;R-HSA-4641263;R-HSA-5140745;R-HSA-5340588;
pdb: 5URY;5URZ;
name: Frizzled-5 (Fz-5) (hFz5) (FzE5)
length: 585
go: ENSG00000163251;
snps: rs35994626
sequence:

opentargets:
axon [GO:0030424]; bicellular tight junction [GO:0005923]; cell surface [GO:0009986]; clathrin-coated endocytic vesicle membrane [GO:0030669]; dendrite [GO:0030425]; early endosome membrane [GO:0031901]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; synapse [GO:0045202]; amyloid-beta binding [GO:0001540]; G protein-coupled receptor activity [GO:0004930]; lipid binding [GO:0008289]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; ubiquitin protein ligase binding [GO:0031625]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; angiogenesis [GO:0001525]; anterior/posterior axis specification, embryo [GO:0008595]; apoptotic process involved in morphogenesis [GO:0060561]; beta-catenin destruction complex disassembly [GO:1904886]; branching involved in labyrinthine layer morphogenesis [GO:0060670]; canonical Wnt signaling pathway [GO:0060070]; cell maturation [GO:0048469]; cellular response to molecule of bacterial origin [GO:0071219]; chorionic trophoblast cell differentiation [GO:0060718]; embryonic axis specification [GO:0000578]; embryonic camera-type eye morphogenesis [GO:0048596]; labyrinthine layer blood vessel development [GO:0060716]; negative regulation of cell proliferation [GO:0008285]; neuron differentiation [GO:0030182]; non-canonical Wnt signaling pathway [GO:0035567]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of protein targeting to mitochondrion [GO:1903955]; positive regulation of T cell cytokine production [GO:0002726]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor secretion [GO:1904469]; post-embryonic camera-type eye development [GO:0031077]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of bicellular tight junction assembly [GO:2000810]; regulation of chorionic trophoblast cell proliferation [GO:1901382]; Spemann organizer formation [GO:0060061]; synapse assembly [GO:0007416]; syncytiotrophoblast cell differentiation involved in labyrinthine layer development [GO:0060715]; T cell differentiation in thymus [GO:0033077]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8CHL0}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8CHL0}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9EQD0}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9EQD0}. Cell junction, synapse {ECO:0000250|UniProtKB:Q8CHL0}. Perikaryon {ECO:0000250|UniProtKB:Q8CHL0}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q8CHL0}. Cell projection, axon {ECO:0000250|UniProtKB:Q8CHL0}. Note=Localized at the plasma membrane and also found at the Golgi. {ECO:0000250|UniProtKB:Q9EQD0}.


uniprotID: Q9Y2I7
geneSymbol: PIKFYVE
reactome: R-HSA-1660514;R-HSA-1660516;R-HSA-1660517;
length: 2098
go: ENSG00000115020;
snps: rs16840913 rs10932258 rs2363468 rs893254 rs893253 rs999890 rs121918336 rs1529979 rs2289170
name:
1-phosphatidylinositol 3-phosphate 5-kinase (Phosphatidylinositol 3-phosphate 5-kinase) (EC 2.7.1.150) (FYVE finger-containing phosphoinositide kinase) (PIKfyve) (Phosphatidylinositol 3-phosphate 5-kinase type III) (PIPkin-III) (Type III PIP kinase)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; Golgi membrane [GO:0000139]; late endosome membrane [GO:0031902]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; vesicle membrane [GO:0012506]; 1-phosphatidylinositol-3-phosphate 5-kinase activity [GO:0000285]; 1-phosphatidylinositol-4-phosphate 5-kinase activity [GO:0016308]; ATP binding [GO:0005524]; phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity [GO:0043813]; zinc ion binding [GO:0008270]; intracellular signal transduction [GO:0035556]; myelin assembly [GO:0032288]; phosphatidylinositol 5-phosphate metabolic process [GO:1904562]; phosphatidylinositol biosynthetic process [GO:0006661]; protein localization to nucleus [GO:0034504]; regulation of autophagosome assembly [GO:2000785]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y2I7-1; Sequence=Displayed; Name=2; IsoId=Q9Y2I7-2; Sequence=VSP_040108, VSP_040110, VSP_040111; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y2I7-3; Sequence=VSP_040109, VSP_040110, VSP_040111; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y2I7-4; Sequence=VSP_040110, VSP_040111; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:11706043, ECO:0000269|PubMed:17556371}. Note=Mainly associated with membranes of the late endocytic pathway.


uniprotID: Q8WWW8
geneSymbol: GAB3
length: 586
go: ENSG00000160219;
opentargets: macrophage differentiation [GO:0030225]
snps: rs17281349
name:
GRB2-associated-binding protein 3 (GRB2-associated binder 3) (Growth factor receptor bound protein 2-associated protein 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WWW8-1; Sequence=Displayed; Name=2; IsoId=Q8WWW8-2; Sequence=VSP_045033; Note=No experimental confirmation available.; Name=3; IsoId=Q8WWW8-3; Sequence=VSP_045033, VSP_055259; Note=No experimental confirmation available.; 


uniprotID: Q9YNA8
geneSymbol: ERVK-19
length: 666
name:
Endogenous retrovirus group K member 19 Gag polyprotein (HERV-K(C19) Gag protein) (HERV-K_19q11 provirus ancestral Gag polyprotein) (Gag polyprotein)

sequence:

opentargets:
plasma membrane [GO:0005886]; nucleic acid binding [GO:0003676]; structural molecule activity [GO:0005198]; zinc ion binding [GO:0008270]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=This protein is synthesized as a Gag polypeptide and as a Gag-Pro-Pol polyprotein. The later is the precursor of the Pro and Pol proteins. It is thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=1; IsoId=Q9YNA8-1; Sequence=Displayed; 

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor. Note=Cytoplasmic membrane (in a transfection system). {ECO:0000250}.


uniprotID: Q8N1E6
geneSymbol: FBXL14
reactome: R-HSA-8951664;R-HSA-983168;
name: F-box/LRR-repeat protein 14 (F-box and leucine-rich repeat protein 14)
length: 418
go: ENSG00000171823;
snps: rs35571553
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19955572}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin-protein transferase activity [GO:0004842]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: O95866
geneSymbol: MPIG6B
reactome: R-HSA-114604;
name: Megakaryocyte and platelet inhibitory receptor G6b (Protein G6b)
length: 241
go: ENSG00000204420;
snps: rs11575845
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; heparin binding [GO:0008201]; blood coagulation [GO:0007596]; erythrocyte differentiation [GO:0030218]; integrin-mediated signaling pathway [GO:0007229]; megakaryocyte development [GO:0035855]; megakaryocyte differentiation [GO:0030219]; negative regulation of signal transduction [GO:0009968]; platelet activation [GO:0030168]; platelet formation [GO:0030220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=B {ECO:0000269|PubMed:11544253}; IsoId=O95866-1; Sequence=Displayed; Name=A {ECO:0000269|PubMed:11544253}; IsoId=O95866-2; Sequence=VSP_014176; Name=C {ECO:0000269|PubMed:11544253}; IsoId=O95866-3; Sequence=VSP_014174; Name=D {ECO:0000269|PubMed:11544253}; IsoId=O95866-4; Sequence=VSP_014172; Name=E {ECO:0000269|PubMed:11544253}; IsoId=O95866-5; Sequence=VSP_014173; Name=F {ECO:0000269|PubMed:11544253}; IsoId=O95866-6; Sequence=VSP_014175; Name=G {ECO:0000269|PubMed:11544253}; IsoId=O95866-7; Sequence=VSP_014177; 

location:
SUBCELLULAR LOCATION: Isoform E: Endoplasmic reticulum {ECO:0000269|PubMed:11544253}. Golgi apparatus {ECO:0000269|PubMed:11544253}.; SUBCELLULAR LOCATION: Isoform D: Endoplasmic reticulum {ECO:0000269|PubMed:11544253}. Golgi apparatus {ECO:0000269|PubMed:11544253}.; SUBCELLULAR LOCATION: Isoform B: Cell membrane {ECO:0000269|PubMed:11544253}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform A: Cell membrane {ECO:0000269|PubMed:11544253}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q9H469
geneSymbol: FBXL15
reactome: R-HSA-8951664;R-HSA-983168;
name: F-box/LRR-repeat protein 15 (F-box only protein 37)
length: 300
go: ENSG00000107872;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21572392}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin-protein transferase activity [GO:0004842]; bone mineralization [GO:0030282]; dorsal/ventral pattern formation [GO:0009953]; G2/M transition of mitotic cell cycle [GO:0000086]; positive regulation of BMP signaling pathway [GO:0030513]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q5VV16
geneSymbol: FOXD4L5
name: Forkhead box protein D4-like 5 (FOXD4-like 5)
length: 416
go: ENSG00000204779;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
sequence:


uniprotID: Q14376
geneSymbol: GALE
reactome: R-HSA-5609977;R-HSA-70370;
pdb: 1EK5;1EK6;1HZJ;1I3K;1I3L;1I3M;1I3N;
length: 348
go: ENSG00000117308;
drug: DB03501;DB03095;DB01861;DB02196;DB03397;
name:
UDP-glucose 4-epimerase (EC 5.1.3.2) (Galactowaldenase) (UDP-N-acetylgalactosamine 4-epimerase) (UDP-GalNAc 4-epimerase) (UDP-N-acetylglucosamine 4-epimerase) (UDP-GlcNAc 4-epimerase) (EC 5.1.3.7) (UDP-galactose 4-epimerase)

sequence:

opentargets:
cytosol [GO:0005829]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; UDP-glucose 4-epimerase activity [GO:0003978]; UDP-N-acetylglucosamine 4-epimerase activity [GO:0003974]; galactose catabolic process [GO:0019388]

snps:
rs1431772923 rs121908046 rs144492228 rs1261697960 rs28940882 rs121908047 rs28940883 rs528467258 rs137853859 rs3204468 rs121908045 rs137853860 rs28940884 rs137853861 rs3180383 rs28940885 rs368637540 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14376-1; Sequence=Displayed; Name=2; IsoId=Q14376-2; Sequence=VSP_056822; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9ULV1
geneSymbol: FZD4
pdb: 5BPB;5BPQ;5BQC;5BQE;5CL1;5CM4;5UWG;
name: Frizzled-4 (Fz-4) (hFz4) (FzE4) (CD antigen CD344)
length: 537
go: ENSG00000174804;
reactome:
R-HSA-373080;R-HSA-4086398;R-HSA-4608870;R-HSA-4641263;R-HSA-5099900;R-HSA-5340588;R-HSA-8856825;R-HSA-8856828;

sequence:

opentargets:
cell surface [GO:0009986]; cell-cell junction [GO:0005911]; clathrin-coated endocytic vesicle membrane [GO:0030669]; clathrin-coated vesicle membrane [GO:0030665]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; cytokine binding [GO:0019955]; G protein-coupled receptor activity [GO:0004930]; PDZ domain binding [GO:0030165]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; signaling receptor activity [GO:0038023]; ubiquitin protein ligase binding [GO:0031625]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; canonical Wnt signaling pathway [GO:0060070]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to retinoic acid [GO:0071300]; cerebellum vasculature morphogenesis [GO:0061301]; extracellular matrix-cell signaling [GO:0035426]; locomotion involved in locomotory behavior [GO:0031987]; membrane organization [GO:0061024]; negative regulation of cell-substrate adhesion [GO:0010812]; neuron differentiation [GO:0030182]; non-canonical Wnt signaling pathway [GO:0035567]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of neuron projection arborization [GO:0150012]; positive regulation of transcription, DNA-templated [GO:0045893]; progesterone secretion [GO:0042701]; regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030947]; retina vasculature morphogenesis in camera-type eye [GO:0061299]; retinal blood vessel morphogenesis [GO:0061304]; sensory perception of sound [GO:0007605]; substrate adhesion-dependent cell spreading [GO:0034446]; vasculogenesis [GO:0001570]; Wnt signaling pathway [GO:0016055]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

snps:
rs61735304 rs80358281 rs139401671 rs80358282 rs80358285 rs80358284 rs80358286 rs61735303 rs80358287 rs1476724511 rs80358288 rs1064794064 rs104894223 rs80358292 rs80358293 rs80358294 rs80358297 rs80358298 rs80358300 

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


uniprotID: Q9UF56
geneSymbol: FBXL17
name: F-box/LRR-repeat protein 17 (F-box and leucine-rich repeat protein 17) (F-box only protein 13)
length: 701
go: ENSG00000145743;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; SCF ubiquitin ligase complex [GO:0019005]; protein ubiquitination [GO:0016567]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UF56-1; Sequence=Displayed; Name=2; IsoId=Q9UF56-3; Sequence=VSP_037034; Note=No experimental confirmation available.; Name=3; IsoId=Q9UF56-2; Sequence=VSP_037034, VSP_009476; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24035498}. Nucleus {ECO:0000269|PubMed:24035498, ECO:0000269|PubMed:27234298}. Note=Present in the cytoplasm and nucleus; more abundant in the cytoplasm. {ECO:0000269|PubMed:24035498}.


uniprotID: Q5VVW2
geneSymbol: GARNL3
name: GTPase-activating Rap/Ran-GAP domain-like protein 3
length: 1013
go: ENSG00000136895;
snps: rs11550746 rs34608132
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; GTPase activator activity [GO:0005096]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q5VVW2-1; Sequence=Displayed; Name=2; IsoId=Q5VVW2-2; Sequence=VSP_029743, VSP_029744; Name=3; IsoId=Q5VVW2-3; Sequence=VSP_029740, VSP_029741, VSP_029742; Note=No experimental confirmation available.; Name=4; IsoId=Q5VVW2-4; Sequence=VSP_029745; Note=No experimental confirmation available.; Name=5; IsoId=Q5VVW2-5; Sequence=VSP_054875; Note=No experimental confirmation available.; 


uniprotID: Q5VWT5
geneSymbol: FYB2
name: FYN-binding protein 2 (Activation-dependent, raft-recruited ADAP-like phosphoprotein)
length: 728
go: ENSG00000187889;
snps: rs17114336
sequence:

opentargets:
immunological synapse [GO:0001772]; membrane raft [GO:0045121]; cell adhesion mediated by integrin [GO:0033627]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VWT5-1; Sequence=Displayed; Name=2; IsoId=Q5VWT5-2; Sequence=VSP_028031, VSP_028032; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane raft {ECO:0000269|PubMed:27335501}. Note=Recruited to membrane rafts and immunological synapse after TCR stimulation. {ECO:0000269|PubMed:27335501}.


uniprotID: P57057
geneSymbol: SLC37A1
reactome: R-HSA-70263;
length: 533
go: ENSG00000160190;
snps: rs768541152 rs228104
name:
Glucose-6-phosphate exchanger SLC37A1 (Glycerol-3-phosphate permease) (G-3-P permease) (Solute carrier family 37 member 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; glucose 6-phosphate:inorganic phosphate antiporter activity [GO:0061513]; carbohydrate transport [GO:0008643]; glucose-6-phosphate transport [GO:0015760]; phosphate ion transmembrane transport [GO:0035435]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21949678}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q13283
geneSymbol: G3BP1
pdb: 3Q90;4FCJ;4FCM;4IIA;5FW5;
length: 466
go: ENSG00000145907;
name:
Ras GTPase-activating protein-binding protein 1 (G3BP-1) (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent DNA helicase VIII) (hDH VIII) (GAP SH3 domain-binding protein 1)

sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; perikaryon [GO:0043204]; ribonucleoprotein complex [GO:1990904]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; ATP-dependent RNA helicase activity [GO:0004004]; DNA binding [GO:0003677]; endonuclease activity [GO:0004519]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; Ras protein signal transduction [GO:0007265]; stress granule assembly [GO:0034063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13283-1; Sequence=Displayed; Name=2; IsoId=Q13283-2; Sequence=VSP_056280, VSP_056281; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20180778}. Perikaryon {ECO:0000250|UniProtKB:P97855}. Cytoplasm, Stress granule {ECO:0000269|PubMed:12642610, ECO:0000269|PubMed:20180778, ECO:0000269|PubMed:23953116}. Nucleus {ECO:0000269|PubMed:11604510}. Note=Cytoplasmic in proliferating cells (PubMed:11604510). Cytosolic and partially nuclear in resting cells (PubMed:11604510). Recruited to stress granules in response to arsenite treatment (PubMed:12642610, PubMed:20180778). The unphosphorylated form is recruited to stress granules (PubMed:12642610). HRAS signaling contributes to this process by regulating G3BP dephosphorylation (PubMed:12642610). {ECO:0000269|PubMed:11604510, ECO:0000269|PubMed:12642610, ECO:0000269|PubMed:20180778}.


uniprotID: Q06546
geneSymbol: GABPA
reactome: R-HSA-2151201;
length: 454
go: ENSG00000154727;
snps: rs2829897 rs2829900
location: SUBCELLULAR LOCATION: Nucleus.
name:
GA-binding protein alpha chain (GABP subunit alpha) (Nuclear respiratory factor 2 subunit alpha) (Transcription factor E4TF1-60)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; activating transcription factor binding [GO:0033613]; chromatin binding [GO:0003682]; 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]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription regulatory region DNA binding [GO:0044212]; blastocyst formation [GO:0001825]; cell differentiation [GO:0030154]; cellular response to dopamine [GO:1903351]; mitochondrion organization [GO:0007005]; negative regulation of megakaryocyte differentiation [GO:0045653]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]


uniprotID: O60755
geneSymbol: GALR3
reactome: R-HSA-375276;R-HSA-418594;
name: Galanin receptor type 3 (GAL3-R) (GALR-3)
length: 368
go: ENSG00000128310;
snps: rs8137541 rs8137553
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; non-motile cilium [GO:0097730]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; galanin receptor activity [GO:0004966]; peptide hormone binding [GO:0017046]; chemical synaptic transmission [GO:0007268]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; galanin-activated signaling pathway [GO:0090663]; learning or memory [GO:0007611]; negative regulation of adenylate cyclase activity [GO:0007194]; neuropeptide signaling pathway [GO:0007218]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q96CN9
geneSymbol: GCC1
reactome: R-HSA-6811440;
name: GRIP and coiled-coil domain-containing protein 1 (Golgi coiled-coil protein 1)
length: 775
go: ENSG00000179562;
snps: rs17151044 rs2285348 rs35322201 rs35390108 rs34887879 rs34883586
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10209125}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q92908
geneSymbol: GATA6
reactome: R-HSA-5683826;R-HSA-983231;
name: Transcription factor GATA-6 (GATA-binding factor 6)
length: 595
go: ENSG00000141448;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19666519, ECO:0000269|PubMed:27756709}.
sequence:

opentargets:
nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II repressing transcription factor binding [GO:0001103]; 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]; zinc ion binding [GO:0008270]; anatomical structure formation involved in morphogenesis [GO:0048646]; animal organ formation [GO:0048645]; animal organ morphogenesis [GO:0009887]; blood coagulation [GO:0007596]; cardiac muscle cell differentiation [GO:0055007]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cardiac vascular smooth muscle cell differentiation [GO:0060947]; cell development [GO:0048468]; cellular protein metabolic process [GO:0044267]; cellular response to BMP stimulus [GO:0071773]; cellular response to gonadotropin stimulus [GO:0071371]; cellular response to hypoxia [GO:0071456]; Clara cell differentiation [GO:0060486]; endodermal cell fate determination [GO:0007493]; heart development [GO:0007507]; in utero embryonic development [GO:0001701]; intestinal epithelial cell differentiation [GO:0060575]; liver development [GO:0001889]; lung saccule development [GO:0060430]; male gonad development [GO:0008584]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transforming growth factor beta1 production [GO:0032911]; negative regulation of transforming growth factor beta2 production [GO:0032912]; outflow tract septum morphogenesis [GO:0003148]; pancreatic A cell differentiation [GO:0003310]; phospholipid metabolic process [GO:0006644]; positive regulation of angiogenesis [GO:0045766]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cardiac muscle myoblast proliferation [GO:0110024]; positive regulation of cardioblast differentiation [GO:0051891]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; response to drug [GO:0042493]; response to estrogen [GO:0043627]; response to growth factor [GO:0070848]; smooth muscle cell differentiation [GO:0051145]; tissue development [GO:0009888]; transcription by RNA polymerase II [GO:0006366]; tube morphogenesis [GO:0035239]; type B pancreatic cell differentiation [GO:0003309]; type II pneumocyte differentiation [GO:0060510]

snps:
rs116262672 rs766886560 rs1263887431 rs387906815 rs387906816 rs387906814 rs387906817 rs387906818 rs387906819 rs387906813 rs387906813 rs387906820 rs761668180 rs201707559 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q92908-1; Sequence=Displayed; Name=2; IsoId=Q92908-2; Sequence=VSP_035778; Note=Produced by alternative initiation at Met-147 of isoform 1.; 


uniprotID: Q92616
geneSymbol: GCN1
length: 2671
snps: rs3864938
name:
eIF-2-alpha kinase activator GCN1 (GCN1 eIF-2-alpha kinase activator homolog) (GCN1-like protein 1) (General control of amino-acid synthesis 1-like protein 1) (Translational activator GCN1) (HsGCN1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; polysome [GO:0005844]; ribosome [GO:0005840]; cadherin binding [GO:0045296]; protein kinase binding [GO:0019901]; protein kinase regulator activity [GO:0019887]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; cellular response to amino acid starvation [GO:0034198]; cellular response to leucine starvation [GO:1990253]; positive regulation of kinase activity [GO:0033674]; positive regulation of transcription from RNA polymerase II promoter in response to stress [GO:0036003]; regulation of translation [GO:0006417]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:E9PVA8}. Note=Associates with ribosomes in undifferentiated neuroblastoma cells and increases after neuronal differentiation. {ECO:0000250|UniProtKB:E9PVA8}.


uniprotID: Q96CP2
geneSymbol: FLYWCH2
name: FLYWCH family member 2
length: 140
go: ENSG00000162076;
opentargets: RNA binding [GO:0003723]
sequence:
MPLPEPSEQEGESVKASQEPSPKPGTEVIPAAPRKPRKFSKLVLLTASKDSTKVAGAKRKGVHCVMSLGVPGPATLAKALLQTHPEAQRAIEAAPQEPEQKRSRQDPGTDRTEDSGLAAGPPEAAGENFAPCSVAPGKSL


uniprotID: Q75VX8
geneSymbol: GAREM2
name: GRB2-associated and regulator of MAPK protein 2 (GRB2-associated and regulator of MAPK1-like)
length: 874
go: ENSG00000157833;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q75VX8-1; Sequence=Displayed; Name=2; IsoId=Q75VX8-2; Sequence=VSP_034201; Note=No experimental confirmation available.; Name=3; IsoId=Q75VX8-3; Sequence=VSP_047321, VSP_047322, VSP_034201; Note=No experimental confirmation available.; 


uniprotID: Q96CW5
geneSymbol: TUBGCP3
reactome: R-HSA-380270;R-HSA-380320;
length: 907
go: ENSG00000126216;
snps: rs1044287
name:
Gamma-tubulin complex component 3 (GCP-3) (hGCP3) (Gamma-ring complex protein 104 kDa) (h104p) (hGrip104) (Spindle pole body protein Spc98 homolog) (hSpc98)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; equatorial microtubule organizing center [GO:0000923]; gamma-tubulin complex [GO:0000930]; gamma-tubulin small complex [GO:0008275]; membrane [GO:0016020]; polar microtubule [GO:0005827]; spindle [GO:0005819]; spindle pole body [GO:0005816]; gamma-tubulin binding [GO:0043015]; structural constituent of cytoskeleton [GO:0005200]; structural molecule activity [GO:0005198]; cytoplasmic microtubule organization [GO:0031122]; meiotic cell cycle [GO:0051321]; microtubule nucleation [GO:0007020]; microtubule nucleation by interphase microtubule organizing center [GO:0051415]; mitotic spindle assembly [GO:0090307]; single fertilization [GO:0007338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q96CW5-1; Sequence=Displayed; Name=2; IsoId=Q96CW5-2; Sequence=VSP_001620, VSP_001621; Name=3; IsoId=Q96CW5-3; Sequence=VSP_001622, VSP_001623; 

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


uniprotID: Q9UM11
geneSymbol: FZR1
pdb: 4UI9;5L9T;5L9U;
name: Fizzy-related protein homolog (Fzr) (CDC20-like protein 1) (Cdh1/Hct1 homolog) (hCDH1)
length: 496
go: ENSG00000105325;
location: SUBCELLULAR LOCATION: Isoform 2: Nucleus.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm.
reactome:
R-HSA-174084;R-HSA-174113;R-HSA-174178;R-HSA-176407;R-HSA-176408;R-HSA-176417;R-HSA-2559582;R-HSA-69017;R-HSA-69656;R-HSA-983168;

sequence:

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; anaphase-promoting complex binding [GO:0010997]; ubiquitin-protein transferase activator activity [GO:0097027]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle [GO:0007049]; cell division [GO:0051301]; DNA repair [GO:0006281]; lens fiber cell differentiation [GO:0070306]; negative regulation of cell aging [GO:0090344]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of ubiquitin protein ligase activity [GO:1904668]; protein K11-linked ubiquitination [GO:0070979]; regulation of meiotic nuclear division [GO:0040020]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UM11-1; Sequence=Displayed; Name=2; Synonyms=CDH1alpha, Fzr1; IsoId=Q9UM11-2; Sequence=VSP_008504; Note=Major.; Name=3; Synonyms=CDH1beta, Fzr2; IsoId=Q9UM11-3; Sequence=VSP_008503, VSP_008504; Note=Minor.; 


uniprotID: Q96RT8
geneSymbol: TUBGCP5
reactome: R-HSA-380270;R-HSA-380320;
name: Gamma-tubulin complex component 5 (GCP-5)
length: 1024
go: ENSG00000275835;
snps: rs35612840
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; equatorial microtubule organizing center [GO:0000923]; gamma-tubulin complex [GO:0000930]; gamma-tubulin ring complex [GO:0008274]; microtubule [GO:0005874]; spindle pole [GO:0000922]; spindle pole body [GO:0005816]; gamma-tubulin binding [GO:0043015]; microtubule binding [GO:0008017]; structural constituent of cytoskeleton [GO:0005200]; cytoplasmic microtubule organization [GO:0031122]; meiotic cell cycle [GO:0051321]; microtubule nucleation [GO:0007020]; microtubule nucleation by interphase microtubule organizing center [GO:0051415]; mitotic spindle assembly [GO:0090307]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96RT8-1; Sequence=Displayed; Name=2; IsoId=Q96RT8-2; Sequence=VSP_047496; Note=No experimental confirmation available.; 

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


uniprotID: Q96N76
geneSymbol: UROC1
reactome: R-HSA-70921;
name: Urocanate hydratase (Urocanase) (EC 4.2.1.49) (Imidazolonepropionate hydrolase)
length: 676
go: ENSG00000159650;
snps: rs137852796 rs34488036 rs35062810 rs9871671 rs137852795
sequence:

opentargets:
cytosol [GO:0005829]; urocanate hydratase activity [GO:0016153]; histidine catabolic process [GO:0006548]; histidine catabolic process to glutamate and formamide [GO:0019556]; histidine catabolic process to glutamate and formate [GO:0019557]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96N76-1; Sequence=Displayed; Name=2; IsoId=Q96N76-2; Sequence=VSP_045422; Note=No experimental confirmation available.; 


uniprotID: P63218
geneSymbol: GNG5
name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5
sequence: MSGSSSVAAMKKVVQQLRLEAGLNRVKVSQAAADLKQFCLQNAQHDPLLTGVSSSTNPFRPQKVCSFL
length: 68
go: ENSG00000174021;
reactome:
R-HSA-1296041;R-HSA-163359;R-HSA-202040;R-HSA-381676;R-HSA-392170;R-HSA-392451;R-HSA-392851;R-HSA-400042;R-HSA-4086398;R-HSA-416476;R-HSA-416482;R-HSA-418217;R-HSA-418555;R-HSA-418592;R-HSA-418594;R-HSA-418597;R-HSA-420092;R-HSA-428930;R-HSA-432040;R-HSA-456926;R-HSA-500657;R-HSA-6814122;R-HSA-997272;

opentargets:
extracellular exosome [GO:0070062]; G-protein beta/gamma-subunit complex [GO:0031680]; heterotrimeric G-protein complex [GO:0005834]; membrane [GO:0016020]; plasma membrane [GO:0005886]; GTPase activity [GO:0003924]; PDZ domain binding [GO:0030165]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of secondary heart field cardioblast proliferation [GO:0072513]; signal transduction [GO:0007165]


uniprotID: Q9BSJ2
geneSymbol: TUBGCP2
reactome: R-HSA-380270;R-HSA-380320;
length: 902
go: ENSG00000130640;
snps: rs2298121 rs11101682 rs11101677
name:
Gamma-tubulin complex component 2 (GCP-2) (hGCP2) (Gamma-ring complex protein 103 kDa) (h103p) (hGrip103) (Spindle pole body protein Spc97 homolog) (hSpc97)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; equatorial microtubule organizing center [GO:0000923]; gamma-tubulin complex [GO:0000930]; gamma-tubulin small complex [GO:0008275]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; spindle pole [GO:0000922]; spindle pole body [GO:0005816]; gamma-tubulin binding [GO:0043015]; structural constituent of cytoskeleton [GO:0005200]; cytoplasmic microtubule organization [GO:0031122]; meiotic cell cycle [GO:0051321]; microtubule nucleation [GO:0007020]; microtubule nucleation by interphase microtubule organizing center [GO:0051415]; mitotic spindle assembly [GO:0090307]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms may exist. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=1; IsoId=Q9BSJ2-1; Sequence=Displayed; Name=2; IsoId=Q9BSJ2-3; Sequence=VSP_044698; Note=No experimental confirmation available.; Name=3; IsoId=Q9BSJ2-4; Sequence=VSP_045982; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9HCG7
geneSymbol: GBA2
reactome: R-HSA-1660662;
length: 927
go: ENSG00000070610;
snps: rs398123012 rs398123015
name:
Non-lysosomal glucosylceramidase (NLGase) (EC 3.2.1.45) (Beta-glucocerebrosidase 2) (Beta-glucosidase 2) (Glucosylceramidase 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; smooth endoplasmic reticulum [GO:0005790]; beta-glucosidase activity [GO:0008422]; glucosylceramidase activity [GO:0004348]; bile acid metabolic process [GO:0008206]; central nervous system neuron development [GO:0021954]; glucosylceramide catabolic process [GO:0006680]; glycoside catabolic process [GO:0016139]; glycosphingolipid metabolic process [GO:0006687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HCG7-1; Sequence=Displayed; Name=2; IsoId=Q9HCG7-2; Sequence=VSP_024384; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCG7-3; Sequence=VSP_024383; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Not localized to lipid rafts. {ECO:0000269|PubMed:17105727}.


uniprotID: Q8WUU5
geneSymbol: GATAD1
name: GATA zinc finger domain-containing protein 1 (Ocular development-associated gene protein)
length: 269
go: ENSG00000157259;
snps: rs10281879 rs387907188 rs34768413
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21965549}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; zinc ion binding [GO:0008270]; chromatin assembly [GO:0031497]


uniprotID: Q2WGN9
geneSymbol: GAB4
length: 574
snps: rs11703655
name:
GRB2-associated-binding protein 4 (GRB2-associated binder 2-like) (GAB2-like) (GRB2-associated binder 4) (GRB2-associated-binding protein 2-like) (Growth factor receptor bound protein 2-associated protein 4)

sequence:


uniprotID: Q8TET4
geneSymbol: GANC
name: Neutral alpha-glucosidase C (EC 3.2.1.20)
length: 914
go: ENSG00000214013;
drug: DB00491;
snps: rs8043515 rs8024732 rs75876980 rs16973015 rs2578652 rs7181742 rs7180279
sequence:

opentargets:
alpha-1,4-glucosidase activity [GO:0004558]; carbohydrate binding [GO:0030246]; maltose alpha-glucosidase activity [GO:0032450]


uniprotID: P62683
geneSymbol: ERVK-21
length: 666
name:
Endogenous retrovirus group K member 21 Gag polyprotein (HERV-K_12q14.1 provirus ancestral Gag polyprotein) (Gag polyprotein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=This protein is synthesized as a Gag polypeptide and as a Gag-Pro-Pol polyprotein. The later is the precursor of the Pro and Pol proteins. It is thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=1; IsoId=P62683-1; Sequence=Displayed; 


uniprotID: Q8NHY3
geneSymbol: GAS2L2
length: 880
go: ENSG00000270765;
snps: rs11654604 rs12602590 rs3744374 rs56386706
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
name:
GAS2-like protein 2 (GAS2-related protein on chromosome 17) (Growth arrest-specific protein 2-like 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; actin filament binding [GO:0051015]; cytoskeletal adaptor activity [GO:0008093]; microtubule binding [GO:0008017]; microtubule bundle formation [GO:0001578]; negative regulation of microtubule depolymerization [GO:0007026]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Beta; IsoId=Q8NHY3-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q8NHY3-2; Sequence=VSP_015497, VSP_015498; 


uniprotID: P87889
geneSymbol: ERVK-10
length: 666
name:
Endogenous retrovirus group K member 10 Gag polyprotein (HERV-K10 Gag protein) (HERV-K107 Gag protein) (HERV-K_5q33.3 provirus ancestral Gag polyprotein) (Gag polyprotein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=This protein is synthesized as a Gag polypeptide and as a Gag-Pro-Pol polyprotein. The later is the precursor of the Pro and Pol proteins. It is thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=1; IsoId=P87889-1; Sequence=Displayed; 

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor. Note=Cytoplasmic membrane (in a transfection system).


uniprotID: Q13480
geneSymbol: GAB1
pdb: 4QSY;
length: 694
go: ENSG00000109458;
snps: rs28925904 rs2229879
reactome:
R-HSA-109704;R-HSA-1236382;R-HSA-1257604;R-HSA-180292;R-HSA-1963642;R-HSA-2219530;R-HSA-5637810;R-HSA-5654689;R-HSA-5654695;R-HSA-5654710;R-HSA-5654720;R-HSA-5655253;R-HSA-5655291;R-HSA-5655302;R-HSA-6811558;R-HSA-8851907;R-HSA-8853334;R-HSA-8853338;R-HSA-8853659;R-HSA-8865999;R-HSA-8875555;R-HSA-8875656;R-HSA-9028335;

name:
GRB2-associated-binding protein 1 (GRB2-associated binder 1) (Growth factor receptor bound protein 2-associated protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; SH3/SH2 adaptor activity [GO:0005070]; actin cytoskeleton reorganization [GO:0031532]; angiogenesis [GO:0001525]; axon guidance [GO:0007411]; cell proliferation [GO:0008283]; endothelial cell chemotaxis to vascular endothelial growth factor [GO:0090668]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; insulin receptor signaling pathway [GO:0008286]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell migration by vascular endothelial growth factor signaling pathway [GO:0038089]; positive regulation of protein kinase B signaling [GO:0051897]; response to hepatocyte growth factor [GO:0035728]; vascular endothelial growth factor signaling pathway [GO:0038084]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13480-1; Sequence=Displayed; Name=2; IsoId=Q13480-2; Sequence=VSP_017137; 


uniprotID: Q6PCT2
geneSymbol: FBXL19
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 6ASB;
name: F-box/LRR-repeat protein 19 (F-box and leucine-rich repeat protein 19)
length: 694
go: ENSG00000099364;
sequence:

opentargets:
cytosol [GO:0005829]; SCF ubiquitin ligase complex [GO:0019005]; DNA binding [GO:0003677]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PCT2-1; Sequence=Displayed; Name=2; IsoId=Q6PCT2-2; Sequence=VSP_013015; Name=3; IsoId=Q6PCT2-3; Sequence=VSP_040503; 


uniprotID: O43903
geneSymbol: GAS2
reactome: R-HSA-264870;
name: Growth arrest-specific protein 2 (GAS-2)
length: 313
go: ENSG00000148935;
sequence:

opentargets:
actin filament [GO:0005884]; cytosol [GO:0005829]; membrane [GO:0016020]; microtubule binding [GO:0008017]; antral ovarian follicle growth [GO:0001547]; apoptotic process [GO:0006915]; basement membrane organization [GO:0071711]; cell cycle arrest [GO:0007050]; initiation of primordial ovarian follicle growth [GO:0001544]; ovulation [GO:0030728]; regulation of cell shape [GO:0008360]; regulation of Notch signaling pathway [GO:0008593]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43903-1; Sequence=Displayed; Name=2; IsoId=O43903-2; Sequence=VSP_055080, VSP_055081; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, stress fiber {ECO:0000250|UniProtKB:P11862}. Membrane {ECO:0000250|UniProtKB:P11862}; Peripheral membrane protein {ECO:0000250|UniProtKB:P11862}. Note=Component of the microfilament system. Colocalizes with actin fibers at the cell border and along the stress fibers in growth-arrested fibroblasts. Mainly membrane-associated. When hyperphosphorylated, accumulates at membrane ruffles. {ECO:0000250|UniProtKB:P11862}.


uniprotID: Q9BT04
geneSymbol: FUZ
reactome: R-HSA-5610787;
name: Protein fuzzy homolog
length: 418
go: ENSG00000010361;
snps: rs35138412 rs35002951 rs12610577
sequence:

opentargets:
cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; cilium assembly [GO:0060271]; embryonic body morphogenesis [GO:0010172]; embryonic skeletal system morphogenesis [GO:0048704]; establishment of planar polarity [GO:0001736]; hair follicle development [GO:0001942]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation [GO:2000314]; negative regulation of neural crest formation [GO:0090301]; neural tube closure [GO:0001843]; non-motile cilium assembly [GO:1905515]; positive regulation of cilium assembly [GO:0045724]; protein transport [GO:0015031]; regulation of smoothened signaling pathway [GO:0008589]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BT04-1; Sequence=Displayed; Name=2; IsoId=Q9BT04-2; Sequence=VSP_029966; Note=No experimental confirmation available.; Name=3; IsoId=Q9BT04-3; Sequence=VSP_029965; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q2HZX7}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q2HZX7}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q3UYI6}.


uniprotID: Q9UBC7
geneSymbol: GALP
name: Galanin-like peptide
length: 116
go: ENSG00000197487;
snps: rs3745833
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MAPPSVPLVLLLVLLLSLAETPASAPAHRGRGGWTLNSAGYLLGPVLHLPQMGDQDGKRETALEILDLWKAIDGLPYSHPPQPSKRNVMETFAKPEIGDLGMLSMKIPKEEDVLKS

opentargets:
extracellular region [GO:0005576]; hormone activity [GO:0005179]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; behavioral response to starvation [GO:0042595]; defense response to Gram-negative bacterium [GO:0050829]; modification of morphology or physiology of other organism [GO:0035821]; neuropeptide signaling pathway [GO:0007218]; regulation of appetite [GO:0032098]; response to insulin [GO:0032868]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBC7-1; Sequence=Displayed; Name=2; Synonyms=Alarin, del/E3; IsoId=Q9UBC7-2; Sequence=VSP_030460; Note=Cleavage of the signal peptide generates a peptide of 25 amino acids, termed alarin because of the N-terminal alanine and the C-terminal serine. Involved in ganglionic differentiation in neuroblastic tumor tissues. Vasoactive peptide.; 


uniprotID: O95633
geneSymbol: FSTL3
reactome: R-HSA-2473224;R-HSA-381426;R-HSA-8957275;
pdb: 2KCX;3B4V;3SEK;
name: Follistatin-related protein 3 (Follistatin-like protein 3) (Follistatin-related gene protein)
length: 263
go: ENSG00000070404;
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; neuron projection terminus [GO:0044306]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; secretory granule [GO:0030141]; activin binding [GO:0048185]; fibronectin binding [GO:0001968]; adrenal gland development [GO:0030325]; cellular protein metabolic process [GO:0044267]; cellular response to metal ion [GO:0071248]; hematopoietic progenitor cell differentiation [GO:0002244]; kidney development [GO:0001822]; lung development [GO:0030324]; male gonad development [GO:0008584]; negative regulation of activin receptor signaling pathway [GO:0032926]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of osteoclast differentiation [GO:0045671]; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0090101]; ossification [GO:0001503]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-translational protein modification [GO:0043687]; regulation of transcription by RNA polymerase II [GO:0006357]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=O95633-1; Sequence=Displayed; Name=2; IsoId=O95633-2; Sequence=VSP_038553; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted.; SUBCELLULAR LOCATION: Isoform 2: Nucleus. Note=Although alternative initiation has been demonstrated and resulted in different localization, the major source of nuclear FSTL3 appears not to depend on translation initiation at Met-27 according to. {ECO:0000269|PubMed:16150905}.


uniprotID: Q9H4G4
geneSymbol: GLIPR2
pdb: 1SMB;4AIW;5VHG;
length: 154
go: ENSG00000122694;
drug: DB03661;
name:
Golgi-associated plant pathogenesis-related protein 1 (GAPR-1) (Golgi-associated PR-1 protein) (Glioma pathogenesis-related protein 2) (GliPR 2)

sequence:
MGKSASKQFHNEVLKAHNEYRQKHGVPPLKLCKNLNREAQQYSEALASTRILKHSPESSRGQCGENLAWASYDQTGKEVADRWYSEIKNYNFQQPGFTSGTGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVNEGFFEENVLPPKK

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; protein homodimerization activity [GO:0042803]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:11865038}; Lipid-anchor {ECO:0000269|PubMed:11865038}. Note=Binds lipid-enriched microdomains of Golgi membranes not only by ionic interactions but also through the myristate.


uniprotID: P04066
geneSymbol: FUCA1
reactome: R-HSA-6798695;R-HSA-975578;
length: 466
go: ENSG00000179163;
snps: rs2070955 rs2070956 rs2228424 rs665 rs1126512 rs13551 rs80358199
location: SUBCELLULAR LOCATION: Lysosome.
name:
Tissue alpha-L-fucosidase (EC 3.2.1.51) (Alpha-L-fucosidase I) (Alpha-L-fucoside fucohydrolase 1) (Alpha-L-fucosidase 1)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; alpha-L-fucosidase activity [GO:0004560]; fucose metabolic process [GO:0006004]; glycolipid catabolic process [GO:0019377]; glycosaminoglycan catabolic process [GO:0006027]; glycoside catabolic process [GO:0016139]; neutrophil degranulation [GO:0043312]


uniprotID: Q8TAE8
geneSymbol: GADD45GIP1
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 222
go: ENSG00000179271;
name:
Growth arrest and DNA damage-inducible proteins-interacting protein 1 (39S ribosomal protein L59, mitochondrial) (MRP-L59) (CKII beta-associating protein) (CR6-interacting factor 1) (CRIF1) (Mitochondrial large ribosomal subunit protein mL64) (Papillomavirus L2-interacting nuclear protein 1) (PLINP) (PLINP-1) (p53-responsive gene 6 protein)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; ribosome [GO:0005840]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; mitotic cell cycle arrest [GO:0071850]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22453275, ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}. Nucleus {ECO:0000269|PubMed:12482659}. Note=Using N-terminally tagged constructs, has been found in the nucleus (PubMed:12482659). C-terminally tagged constructs are targeted exclusively to mitochondria (PubMed:22453275). This discrepancy may be explained by masking of a potential N-terminal mitochondrial targeting signal by the tag (PubMed:22453275). {ECO:0000269|PubMed:12482659, ECO:0000269|PubMed:22453275}.


uniprotID: P22466
geneSymbol: GAL
reactome: R-HSA-375276;R-HSA-418594;
name: Galanin peptides [Cleaved into: Galanin; Galanin message-associated peptide (GMAP)]
length: 123
go: ENSG00000069482;
snps: rs34725707 rs1057517661
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:1370155, ECO:0000269|PubMed:1722333}.
sequence:
MARGSALLLASLLLAAALSASAGLWSPAKEKRGWTLNSAGYLLGPHAVGNHRSFSDKNGLTSKRELRPEDDMKPGSFDRSIPENNIMRTIIEFLSFLHLKEAGALDRLLDLPAAASSEDIERS

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; neuronal cell body [GO:0043025]; secretory granule [GO:0030141]; galanin receptor activity [GO:0004966]; neuropeptide hormone activity [GO:0005184]; type 1 galanin receptor binding [GO:0031764]; type 2 galanin receptor binding [GO:0031765]; type 3 galanin receptor binding [GO:0031766]; cAMP-mediated signaling [GO:0019933]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; insulin secretion [GO:0030073]; negative regulation of lymphocyte proliferation [GO:0050672]; negative regulation of root hair elongation [GO:1902891]; nervous system development [GO:0007399]; neuropeptide signaling pathway [GO:0007218]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cortisol secretion [GO:0051464]; positive regulation of large conductance calcium-activated potassium channel activity [GO:1902608]; positive regulation of timing of catagen [GO:0051795]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein kinase A signaling [GO:0010737]; regulation of glucocorticoid metabolic process [GO:0031943]; response to drug [GO:0042493]; response to estrogen [GO:0043627]; response to immobilization stress [GO:0035902]; response to insulin [GO:0032868]


uniprotID: Q14353
geneSymbol: GAMT
reactome: R-HSA-71288;
pdb: 3ORH;
name: Guanidinoacetate N-methyltransferase (EC 2.1.1.2)
length: 236
go: ENSG00000130005;
drug: DB00148;DB00536;DB02751;DB01752;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; guanidinoacetate N-methyltransferase activity [GO:0030731]; methyltransferase activity [GO:0008168]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; animal organ morphogenesis [GO:0009887]; creatine biosynthetic process [GO:0006601]; creatine metabolic process [GO:0006600]; muscle contraction [GO:0006936]; regulation of multicellular organism growth [GO:0040014]; S-adenosylhomocysteine metabolic process [GO:0046498]; S-adenosylmethionine metabolic process [GO:0046500]; spermatogenesis [GO:0007283]

snps:
rs776498025 rs80338734 rs200833152 rs200339910 rs886054247 rs967404590 rs104894694 rs372027428 rs1441030187 rs150338273 rs141358977 rs140778208 rs148838075 rs145817990 rs753198836 rs774144200 rs149821870 rs1371496558 rs368221789 rs372260609 rs760101382 rs1483148182 rs374762419 rs121909272 rs1355291180 rs565109128 rs767887772 rs17851582 rs141471799 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14353-1; Sequence=Displayed; Name=2; IsoId=Q14353-2; Sequence=VSP_042722; Note=No experimental confirmation available.; 


uniprotID: Q92945
geneSymbol: KHSRP
reactome: R-HSA-380994;R-HSA-450604;
pdb: 2HH2;2HH3;2JVZ;2OPU;2OPV;4B8T;
length: 711
go: ENSG00000088247;
name:
Far upstream element-binding protein 2 (FUSE-binding protein 2) (KH type-splicing regulatory protein) (KSRP) (p75)

sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; mRNA 3'-UTR AU-rich region binding [GO:0035925]; RNA binding [GO:0003723]; 3'-UTR-mediated mRNA destabilization [GO:0061158]; cellular response to cytokine stimulus [GO:0071345]; miRNA metabolic process [GO:0010586]; mRNA catabolic process [GO:0006402]; mRNA processing [GO:0006397]; mRNA transport [GO:0051028]; negative regulation of low-density lipoprotein particle clearance [GO:0010989]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; positive regulation of mRNA catabolic process [GO:0061014]; regulation of miRNA metabolic process [GO:2000628]; regulation of mRNA stability [GO:0043488]; regulation of transcription, DNA-templated [GO:0006355]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19198587}. Cytoplasm {ECO:0000269|PubMed:19198587}. Note=A small proportion is also found in the cytoplasm of neuronal cell bodies and dendrites. {ECO:0000250}.


uniprotID: Q96A29
geneSymbol: SLC35C1
reactome: R-HSA-5619078;R-HSA-6787639;R-HSA-727802;
name: GDP-fucose transporter 1 (Solute carrier family 35 member C1)
length: 364
go: ENSG00000181830;
snps: rs11538193 rs28939087 rs7130656 rs28937886
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane protein.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; GDP-fucose transmembrane transporter activity [GO:0005457]; carbohydrate transport [GO:0008643]; GDP-fucose import into Golgi lumen [GO:0036085]; lipid glycosylation [GO:0030259]; negative regulation of Notch signaling pathway [GO:0045746]; protein O-linked fucosylation [GO:0036066]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96A29-1; Sequence=Displayed; Name=2; IsoId=Q96A29-2; Sequence=VSP_047116; 


uniprotID: Q96C23
geneSymbol: GALM
pdb: 1SNZ;1SO0;
name: Aldose 1-epimerase (EC 5.1.3.3) (Galactose mutarotase)
length: 342
go: ENSG00000143891;
snps: rs6741892
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; aldose 1-epimerase activity [GO:0004034]; carbohydrate binding [GO:0030246]; galactose catabolic process via UDP-galactose [GO:0033499]; galactose metabolic process [GO:0006012]; glucose metabolic process [GO:0006006]


uniprotID: Q9C0B1
geneSymbol: FTO
reactome: R-HSA-73943;
pdb: 3LFM;4CXW;4CXX;4CXY;4IDZ;4IE0;4IE4;4IE5;4IE6;4IE7;4QHO;4QKN;4ZS2;4ZS3;5DAB;5F8P;
length: 505
go: ENSG00000140718;
snps: rs121918214 rs781028867 rs745616565 rs16952624
name:
Alpha-ketoglutarate-dependent dioxygenase FTO (EC 1.14.11.-) (Fat mass and obesity-associated protein)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-N1-methyladenine dioxygenase activity [GO:0043734]; ferrous iron binding [GO:0008198]; oxidative DNA demethylase activity [GO:0035516]; oxidative RNA demethylase activity [GO:0035515]; RNA N6-methyladenosine dioxygenase activity [GO:1990931]; adipose tissue development [GO:0060612]; DNA dealkylation involved in DNA repair [GO:0006307]; DNA demethylation [GO:0080111]; oxidative demethylation [GO:0070989]; oxidative single-stranded DNA demethylation [GO:0035552]; oxidative single-stranded RNA demethylation [GO:0035553]; regulation of brown fat cell differentiation [GO:0090335]; regulation of lipid storage [GO:0010883]; regulation of multicellular organism growth [GO:0040014]; regulation of respiratory system process [GO:0044065]; regulation of white fat cell proliferation [GO:0070350]; RNA repair [GO:0042245]; temperature homeostasis [GO:0001659]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9C0B1-1; Sequence=Displayed; Name=2; IsoId=Q9C0B1-2; Sequence=VSP_025004, VSP_025005; Note=No experimental confirmation available.; Name=3; IsoId=Q9C0B1-3; Sequence=VSP_025002, VSP_025006; Note=No experimental confirmation available.; Name=4; IsoId=Q9C0B1-4; Sequence=VSP_025003; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22002720, ECO:0000269|PubMed:26458103}. Nucleus speckle {ECO:0000269|PubMed:22002720}.


uniprotID: Q10472
geneSymbol: GALNT1
reactome: R-HSA-6811436;R-HSA-913709;
length: 559
go: ENSG00000141429;
snps: rs34304568
name:
Polypeptide N-acetylgalactosaminyltransferase 1 (EC 2.4.1.41) (Polypeptide GalNAc transferase 1) (GalNAc-T1) (pp-GaNTase 1) (Protein-UDP acetylgalactosaminyltransferase 1) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1) [Cleaved into: Polypeptide N-acetylgalactosaminyltransferase 1 soluble form]

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; carbohydrate binding [GO:0030246]; manganese ion binding [GO:0030145]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]; protein O-linked glycosylation via serine [GO:0018242]; protein O-linked glycosylation via threonine [GO:0018243]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q10472-1; Sequence=Displayed; Name=2; IsoId=Q10472-2; Sequence=VSP_011200; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Polypeptide N-acetylgalactosaminyltransferase 1: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: Polypeptide N-acetylgalactosaminyltransferase 1 soluble form: Secreted.


uniprotID: Q96D09
geneSymbol: GPRASP2
name: G-protein coupled receptor-associated sorting protein 2 (GASP-2)
length: 838
go: ENSG00000158301;
opentargets: cytoplasm [GO:0005737]; amyloid-beta binding [GO:0001540]
snps: rs6616421
sequence:


uniprotID: Q96PP8
geneSymbol: GBP5
reactome: R-HSA-877300;
length: 586
go: ENSG00000154451;
snps: rs17130763 rs3806339
name:
Guanylate-binding protein 5 (EC 3.6.5.-) (GBP-TA antigen) (GTP-binding protein 5) (GBP-5) (Guanine nucleotide-binding protein 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; cellular response to interferon-gamma [GO:0071346]; inflammatory response [GO:0006954]; interleukin-1 beta secretion [GO:0050702]; interleukin-18 secretion [GO:0072616]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of innate immune response [GO:0045089]; positive regulation of NLRP3 inflammasome complex assembly [GO:1900227]; protein homotetramerization [GO:0051289]; protein localization to Golgi apparatus [GO:0034067]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=GBP-5a/b; IsoId=Q96PP8-1; Sequence=Displayed; Name=2; Synonyms=GBP-5ta; IsoId=Q96PP8-2; Sequence=VSP_044362, VSP_044363; Note=Antigenic tumor-specific truncated splice form.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17266443, ECO:0000269|PubMed:21151871}. Golgi apparatus membrane {ECO:0000269|PubMed:17266443, ECO:0000269|PubMed:21151871}; Lipid-anchor {ECO:0000269|PubMed:21151871}.


uniprotID: P32456
geneSymbol: GBP2
reactome: R-HSA-877300;R-HSA-909733;
length: 591
go: ENSG00000162645;
snps: rs2230336 rs1803632 rs2230338
name:
Guanylate-binding protein 2 (EC 3.6.5.-) (GTP-binding protein 2) (GBP-2) (HuGBP-2) (Guanine nucleotide-binding protein 2) (Interferon-induced guanylate-binding protein 2)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein homodimerization activity [GO:0042803]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; protein localization to nucleus [GO:0034504]; type I interferon signaling pathway [GO:0060337]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21151871}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:21151871}. Golgi apparatus membrane {ECO:0000269|PubMed:21151871}. Membrane; Lipid-anchor {ECO:0000269|PubMed:21151871}. Note=GBP2-GBP5 dimers localize to the Golgi apparatus. {ECO:0000269|PubMed:21151871}.


uniprotID: O43603
geneSymbol: GALR2
reactome: R-HSA-375276;R-HSA-418594;
name: Galanin receptor type 2 (GAL2-R) (GALR-2)
length: 387
go: ENSG00000182687;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; galanin receptor activity [GO:0004966]; neuropeptide binding [GO:0042923]; peptide hormone binding [GO:0017046]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell surface receptor signaling pathway [GO:0007166]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; galanin-activated signaling pathway [GO:0090663]; inositol phosphate metabolic process [GO:0043647]; learning or memory [GO:0007611]; multicellular organism development [GO:0007275]; muscle contraction [GO:0006936]; negative regulation of adenylate cyclase activity [GO:0007194]; neuron projection development [GO:0031175]; neuropeptide signaling pathway [GO:0007218]; phosphatidylinositol metabolic process [GO:0046488]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of large conductance calcium-activated potassium channel activity [GO:1902608]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: P0DPI2
geneSymbol: GATD3A
name: Glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial
length: 268
go: ENSG00000160221;
opentargets: mitochondrion [GO:0005739]
snps: rs17264865 rs2838497
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=P0DPI2-1, P30042-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P0DPI2-2, P30042-2; Sequence=VSP_001454; 


uniprotID: P48169
geneSymbol: GABRA4
reactome: R-HSA-112314;R-HSA-977441;
name: Gamma-aminobutyric acid receptor subunit alpha-4 (GABA(A) receptor subunit alpha-4)
length: 554
go: ENSG00000109158;
snps: rs16859837 rs2229940
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; dendrite membrane [GO:0032590]; GABA-A receptor complex [GO:1902711]; GABA-ergic synapse [GO:0098982]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; synapse [GO:0045202]; benzodiazepine receptor activity [GO:0008503]; chloride channel activity [GO:0005254]; GABA-A receptor activity [GO:0004890]; GABA-gated chloride ion channel activity [GO:0022851]; inhibitory extracellular ligand-gated ion channel activity [GO:0005237]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; central nervous system development [GO:0007417]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; gamma-aminobutyric acid signaling pathway [GO:0007214]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; regulation of postsynaptic membrane potential [GO:0060078]; regulation of response to drug [GO:2001023]; signal transduction [GO:0007165]; synaptic transmission, GABAergic [GO:0051932]

drug:
DB00659;DB06579;DB00404;DB01351;DB00543;DB01352;DB01483;DB01496;DB01558;DB00237;DB00241;DB01353;DB00475;DB00349;DB01068;DB00628;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01205;DB01544;DB00690;DB05087;DB01437;DB00801;DB01159;DB01354;DB01355;DB00753;DB00186;DB00371;DB00463;DB01028;DB00849;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB01708;DB01588;DB00794;DB00818;DB01589;DB00418;DB01236;DB00306;DB00231;DB11582;DB00599;DB00273;DB00897;


uniprotID: Q11128
geneSymbol: FUT5
length: 374
snps: rs778970 rs4807054
name:
Alpha-(1,3)-fucosyltransferase 5 (EC 2.4.1.65) (Fucosyltransferase 5) (Fucosyltransferase V) (Fuc-TV) (FucT-V) (Galactoside 3-L-fucosyltransferase)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity [GO:0017060]; alpha-(1->3)-fucosyltransferase activity [GO:0046920]; fucosyltransferase activity [GO:0008417]; carbohydrate metabolic process [GO:0005975]; ceramide metabolic process [GO:0006672]; fucosylation [GO:0036065]; L-fucose catabolic process [GO:0042355]; protein glycosylation [GO:0006486]

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


uniprotID: Q96I24
geneSymbol: FUBP3
name: Far upstream element-binding protein 3 (FUSE-binding protein 3)
length: 572
go: ENSG00000107164;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96I24-1; Sequence=Displayed; Name=2; IsoId=Q96I24-2; Sequence=VSP_008323, VSP_008324; Note=No experimental confirmation available.; 


uniprotID: Q9H0R5
geneSymbol: GBP3
reactome: R-HSA-877300;
length: 595
go: ENSG00000117226;
snps: rs4656078 rs4656077 rs3188433 rs10493821 rs17433780 rs11808228
name:
Guanylate-binding protein 3 (EC 3.6.5.-) (GTP-binding protein 3) (GBP-3) (Guanine nucleotide-binding protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; perinuclear region of cytoplasm [GO:0048471]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein homodimerization activity [GO:0042803]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; defense response to virus [GO:0051607]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0R5-1; Sequence=Displayed; Name=2; Synonyms=GBP-3DeltaC; IsoId=Q9H0R5-4; Sequence=VSP_044360, VSP_044361; Note=Shows the most prominent antiviral activity in epithelial cells.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17266443}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:21151871}. Golgi apparatus membrane {ECO:0000269|PubMed:21151871}. Note=Heterodimers with GBP1, GBP2 and GBP5 localize in the compartment of the prenylated GBPs: with GBP1 in a vesicle-like compartment, with GBP2, around the nucleus and with GBP-5, at the Golgi apparatus. {ECO:0000269|PubMed:21151871}.


uniprotID: Q6ZN66
geneSymbol: GBP6
reactome: R-HSA-877300;
name: Guanylate-binding protein 6 (GTP-binding protein 6) (GBP-6) (Guanine nucleotide-binding protein 6)
length: 633
go: ENSG00000183347;
snps: rs4582772 rs4658359 rs4658360 rs4658146 rs959460
sequence:

opentargets:
extracellular exosome [GO:0070062]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cellular response to interferon-gamma [GO:0071346]; defense response to bacterium [GO:0042742]; immune response [GO:0006955]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZN66-1; Sequence=Displayed; Name=2; IsoId=Q6ZN66-2; Sequence=VSP_030155; 


uniprotID: Q96CU9
geneSymbol: FOXRED1
name: FAD-dependent oxidoreductase domain-containing protein 1 (EC 1.-.-.-)
length: 486
go: ENSG00000110074;
snps: rs34542988 rs17855445 rs387907087 rs7116126 rs267606830
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; oxidoreductase activity [GO:0016491]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96CU9-1; Sequence=Displayed; Name=2; IsoId=Q96CU9-2; Sequence=VSP_022629; Note=No experimental confirmation available.; Name=3; IsoId=Q96CU9-3; Sequence=VSP_039003; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:20858599, ECO:0000305|PubMed:25678554}; Single-pass membrane protein {ECO:0000255}. Note=According to a report, it is associated with the matrix face of the mitochondrial inner membrane and does not contain any transmembrane region. However, one transmembrane domain is clearly predicted by different methods (Probable). {ECO:0000305|PubMed:25678554}.


uniprotID: Q8N5D6
geneSymbol: GBGT1
length: 347
go: ENSG00000148288;
snps: rs2073924 rs35578482 rs12350913 rs34260370 rs34903033 rs35366884 rs35184631 rs35403335
name:
Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (EC 2.4.1.-) (Forssman glycolipid synthase-like protein)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; vesicle [GO:0031982]; globoside alpha-N-acetylgalactosaminyltransferase activity [GO:0047277]; metal ion binding [GO:0046872]; transferase activity, transferring glycosyl groups [GO:0016757]; carbohydrate metabolic process [GO:0005975]; glycolipid biosynthetic process [GO:0009247]; lipid glycosylation [GO:0030259]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N5D6-1; Sequence=Displayed; Name=2; IsoId=Q8N5D6-2; Sequence=VSP_013750; Note=No experimental confirmation available.; Name=3; IsoId=Q8N5D6-3; Sequence=VSP_055375; Note=No experimental confirmation available.; 


uniprotID: Q9UGJ1
geneSymbol: TUBGCP4
reactome: R-HSA-380270;R-HSA-380320;
pdb: 3RIP;
length: 667
go: ENSG00000137822;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
name:
Gamma-tubulin complex component 4 (GCP-4) (hGCP4) (Gamma-ring complex protein 76 kDa) (h76p) (hGrip76)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; equatorial microtubule organizing center [GO:0000923]; gamma-tubulin complex [GO:0000930]; gamma-tubulin ring complex [GO:0008274]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; recycling endosome [GO:0055037]; spindle pole [GO:0000922]; spindle pole body [GO:0005816]; gamma-tubulin binding [GO:0043015]; structural constituent of cytoskeleton [GO:0005200]; cytoplasmic microtubule organization [GO:0031122]; meiotic cell cycle [GO:0051321]; microtubule nucleation [GO:0007020]; microtubule nucleation by interphase microtubule organizing center [GO:0051415]; mitotic spindle assembly [GO:0090307]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGJ1-1; Sequence=Displayed; Name=2; IsoId=Q9UGJ1-2; Sequence=VSP_040085; 


uniprotID: O60262
geneSymbol: GNG7
name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7
sequence: MSATNNIAQARKLVEQLRIEAGIERIKVSKAASDLMSYCEQHARNDPLLVGVPASENPFKDKKPCIIL
length: 68
go: ENSG00000176533;
reactome:
R-HSA-1296041;R-HSA-163359;R-HSA-202040;R-HSA-381676;R-HSA-392170;R-HSA-392451;R-HSA-392851;R-HSA-400042;R-HSA-4086398;R-HSA-416476;R-HSA-416482;R-HSA-418217;R-HSA-418555;R-HSA-418592;R-HSA-418594;R-HSA-418597;R-HSA-420092;R-HSA-428930;R-HSA-432040;R-HSA-456926;R-HSA-500657;R-HSA-6814122;R-HSA-997272;

opentargets:
extracellular exosome [GO:0070062]; heterotrimeric G-protein complex [GO:0005834]; plasma membrane [GO:0005886]; GTPase activity [GO:0003924]; behavioral fear response [GO:0001662]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotory behavior [GO:0007626]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of adenylate cyclase activity [GO:0045761]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]


uniprotID: Q9BZD3
geneSymbol: GCOM2
name: Putative GRINL1B complex locus protein 2 (Glutamate receptor-like protein 1B)
length: 368
sequence:

opentargets:
intracellular [GO:0005622]; nuclear envelope [GO:0005635]; RNA polymerase II, holoenzyme [GO:0016591]; intracellular signal transduction [GO:0035556]; maintenance of ER location [GO:0051685]


uniprotID: P60520
geneSymbol: GABARAPL2
reactome: R-HSA-1632852;R-HSA-8854214;
pdb: 4CO7;
length: 117
go: ENSG00000034713;
snps: rs11556291
name:
Gamma-aminobutyric acid receptor-associated protein-like 2 (GABA(A) receptor-associated protein-like 2) (Ganglioside expression factor 2) (GEF-2) (General protein transport factor p16) (Golgi-associated ATPase enhancer of 16 kDa) (GATE-16) (MAP1 light chain 3-related protein)

sequence:
MKWMFKEDHSLEHRCVESAKIRAKYPDRVPVIVEKVSGSQIVDIDKRKYLVPSDITVAQFMWIIRKRIQLPSEKAIFLFVDKTVPQSSLTMGQLYEKEKDEDGFLYVAYSGENTFGF

opentargets:
autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intracellular [GO:0005622]; ATPase binding [GO:0051117]; beta-tubulin binding [GO:0048487]; GABA receptor binding [GO:0050811]; microtubule binding [GO:0008017]; SNARE binding [GO:0000149]; ubiquitin protein ligase binding [GO:0031625]; autophagosome assembly [GO:0000045]; autophagosome maturation [GO:0097352]; autophagy [GO:0006914]; autophagy of mitochondrion [GO:0000422]; cellular response to nitrogen starvation [GO:0006995]; intra-Golgi vesicle-mediated transport [GO:0006891]; macroautophagy [GO:0016236]; negative regulation of proteasomal protein catabolic process [GO:1901799]; positive regulation of ATPase activity [GO:0032781]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:12507496, ECO:0000269|PubMed:15169837, ECO:0000269|PubMed:17580304, ECO:0000269|PubMed:19056683, ECO:0000269|PubMed:22311637}.


uniprotID: Q5JV73
geneSymbol: FRMPD3
reactome: R-HSA-6798695;
name: FERM and PDZ domain-containing protein 3
length: 1810
go: ENSG00000147234;
sequence:

opentargets:
cytoskeleton [GO:0005856]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; tertiary granule membrane [GO:0070821]; neutrophil degranulation [GO:0043312]


uniprotID: Q14331
geneSymbol: FRG1
name: Protein FRG1 (FSHD region gene 1 protein)
length: 258
go: ENSG00000109536;
snps: rs17797703
sequence:

opentargets:
Cajal body [GO:0015030]; catalytic step 2 spliceosome [GO:0071013]; nucleolus [GO:0005730]; striated muscle dense body [GO:0055120]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; muscle organ development [GO:0007517]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, Cajal body {ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:21699900}. Nucleus, nucleolus {ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900}. Cytoplasm {ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:20970242}. Note=Localization changes during myogenesis from mainly cytoplasmic in undifferentiated myoblasts, to strongly nucleolar in early myotubes and back to cytoplasmic 5 days post-differentiation (PubMed:20970242). Localized at the Z-line in the sarcomere of matured myotubes 8 days post-differentiation (PubMed:20970242). {ECO:0000269|PubMed:20970242}.


uniprotID: Q8N4E7
geneSymbol: FTMT
reactome: R-HSA-917937;
pdb: 1R03;
name: Ferritin, mitochondrial (EC 1.16.3.1)
length: 242
go: ENSG00000181867;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11323407}.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; nucleus [GO:0005634]; ferric iron binding [GO:0008199]; ferrous iron binding [GO:0008198]; ferroxidase activity [GO:0004322]; identical protein binding [GO:0042802]; iron ion binding [GO:0005506]; cellular iron ion homeostasis [GO:0006879]; intracellular sequestering of iron ion [GO:0006880]; iron ion transport [GO:0006826]; positive regulation of aconitate hydratase activity [GO:1904234]; positive regulation of cell proliferation [GO:0008284]; positive regulation of lyase activity [GO:0051349]; positive regulation of succinate dehydrogenase activity [GO:1904231]


uniprotID: O00409
geneSymbol: FOXN3
name: Forkhead box protein N3 (Checkpoint suppressor 1)
length: 490
go: ENSG00000053254;
snps: rs1804717
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein C-terminus binding [GO:0008022]; sequence-specific DNA binding [GO:0043565]; craniofacial suture morphogenesis [GO:0097094]; mitotic G2 DNA damage checkpoint [GO:0007095]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00409-1; Sequence=Displayed; Name=2; IsoId=O00409-2; Sequence=VSP_001551; Note=No experimental confirmation available.; 


uniprotID: Q12778
geneSymbol: FOXO1
reactome: R-HSA-198693;R-HSA-210745;R-HSA-211163;R-HSA-5674400;R-HSA-5687128;R-HSA-6785807;
pdb: 3CO6;3CO7;3COA;4LG0;5DUI;
name: Forkhead box protein O1 (Forkhead box protein O1A) (Forkhead in rhabdomyosarcoma)
length: 655
go: ENSG00000150907;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein phosphatase 2A binding [GO:0051721]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; sequence-specific DNA binding [GO:0043565]; transcription coactivator binding [GO:0001223]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; apoptotic process [GO:0006915]; autophagy [GO:0006914]; blood vessel development [GO:0001568]; cellular glucose homeostasis [GO:0001678]; cellular response to cold [GO:0070417]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to hyperoxia [GO:0071455]; cellular response to insulin stimulus [GO:0032869]; cellular response to nitric oxide [GO:0071732]; cellular response to oxidative stress [GO:0034599]; cellular response to starvation [GO:0009267]; cytokine-mediated signaling pathway [GO:0019221]; enamel mineralization [GO:0070166]; endocrine pancreas development [GO:0031018]; energy homeostasis [GO:0097009]; fat cell differentiation [GO:0045444]; glucose homeostasis [GO:0042593]; insulin receptor signaling pathway [GO:0008286]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cardiac muscle hypertrophy in response to stress [GO:1903243]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of stress-activated MAPK cascade [GO:0032873]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuronal stem cell population maintenance [GO:0097150]; positive regulation of apoptotic process [GO:0043065]; positive regulation of autophagy [GO:0010508]; positive regulation of gluconeogenesis [GO:0045722]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein acetylation [GO:0006473]; regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter [GO:0035947]; regulation of neural precursor cell proliferation [GO:2000177]; regulation of reactive oxygen species metabolic process [GO:2000377]; response to fluoride [GO:1902617]; temperature homeostasis [GO:0001659]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9R1E0}. Nucleus {ECO:0000250|UniProtKB:Q9R1E0}. Note=Shuttles between the cytoplasm and nucleus. Largely nuclear in unstimulated cells. In osteoblasts, colocalizes with ATF4 and RUNX2 in the nucleus (By similarity). Insulin-induced phosphorylation at Ser-256 by PKB/AKT1 leads, via stimulation of Thr-24 phosphorylation, to binding of 14-3-3 proteins and nuclear export to the cytoplasm where it is degraded by the ubiquitin-proteosomal pathway. Phosphorylation at Ser-249 by CDK1 disrupts binding of 14-3-3 proteins and promotes nuclear accumulation. Phosphorylation by NLK results in nuclear export. Translocates to the nucleus upon oxidative stress-induced phosphorylation at Ser-212 by STK4/MST1. SGK1-mediated phosphorylation also results in nuclear translocation. Retained in the nucleus under stress stimuli including oxidative stress, nutrient deprivation or nitric oxide. Retained in the nucleus on methylation. {ECO:0000250}.


uniprotID: Q8TF40
geneSymbol: FNIP1
name: Folliculin-interacting protein 1
length: 1166
go: ENSG00000217128;
snps: rs7730228 rs13177318 rs26008 rs12109782 rs7717874
sequence:

opentargets:
cytoplasm [GO:0005737]; ATPase inhibitor activity [GO:0042030]; chaperone binding [GO:0051087]; guanyl-nucleotide exchange factor activity [GO:0005085]; cellular response to starvation [GO:0009267]; immature B cell differentiation [GO:0002327]; mitochondrion organization [GO:0007005]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of TOR signaling [GO:0032007]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of B cell apoptotic process [GO:0002904]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of protein phosphorylation [GO:0001934]; regulation of pro-B cell differentiation [GO:2000973]; regulation of protein phosphorylation [GO:0001932]; TOR signaling [GO:0031929]; TORC1 signaling [GO:0038202]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TF40-1; Sequence=Displayed; Name=2; IsoId=Q8TF40-2; Sequence=VSP_028982, VSP_028983; Note=No experimental confirmation available.; Name=3; IsoId=Q8TF40-3; Sequence=VSP_028984; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18663353}. Note=Colocalizes with FLCN in the cytoplasm.


uniprotID: O15409
geneSymbol: FOXP2
pdb: 2A07;2AS5;
name: Forkhead box protein P2 (CAG repeat protein 44) (Trinucleotide repeat-containing gene 10 protein)
length: 715
go: ENSG00000128573;
snps: rs121908377
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; camera-type eye development [GO:0043010]; caudate nucleus development [GO:0021757]; cerebellum development [GO:0021549]; cerebral cortex development [GO:0021987]; innate vocalization behavior [GO:0098582]; lung alveolus development [GO:0048286]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of epithelial cell proliferation involved in lung morphogenesis [GO:0060501]; positive regulation of mesenchymal cell proliferation [GO:0002053]; post-embryonic development [GO:0009791]; putamen development [GO:0021758]; response to testosterone [GO:0033574]; righting reflex [GO:0060013]; skeletal muscle tissue development [GO:0007519]; smooth muscle tissue development [GO:0048745]; vocal learning [GO:0042297]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=I; IsoId=O15409-1; Sequence=Displayed; Name=2; Synonyms=II; IsoId=O15409-3; Sequence=Not described; Name=3; Synonyms=III, IV; IsoId=O15409-2; Sequence=VSP_001558; Name=4; IsoId=O15409-4; Sequence=VSP_011532; Name=5; IsoId=O15409-5; Sequence=VSP_011532, VSP_011535, VSP_011536; Name=6; Synonyms=FOXP2-S; IsoId=O15409-6; Sequence=VSP_011538, VSP_011539; Name=7; IsoId=O15409-7; Sequence=VSP_011537; Name=8; IsoId=O15409-8; Sequence=VSP_011533, VSP_011534; Note=No experimental confirmation available.; Name=9; IsoId=O15409-9; Sequence=VSP_043464; Note=No experimental confirmation available.; 


uniprotID: Q9BZS1
geneSymbol: FOXP3
reactome: R-HSA-8877330;R-HSA-8939256;
pdb: 3QRF;4WK8;
length: 431
go: ENSG00000049768;
snps: rs122467173 rs886044787 rs122467169 rs122467172 rs122467170 rs28935477
name:
Forkhead box protein P3 (Scurfin) [Cleaved into: Forkhead box protein P3, C-terminally processed; Forkhead box protein P3 41 kDa form]

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase binding [GO:0035035]; histone deacetylase binding [GO:0042826]; metal ion binding [GO:0046872]; NF-kappaB binding [GO:0051059]; NFAT protein binding [GO:0051525]; protein homodimerization activity [GO:0042803]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; B cell homeostasis [GO:0001782]; CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment [GO:0002362]; chromatin remodeling [GO:0006338]; cytokine production [GO:0001816]; myeloid cell homeostasis [GO:0002262]; negative regulation of activated T cell proliferation [GO:0046007]; negative regulation of cell proliferation [GO:0008285]; negative regulation of chronic inflammatory response [GO:0002677]; negative regulation of CREB transcription factor activity [GO:0032792]; negative regulation of cytokine biosynthetic process [GO:0042036]; negative regulation of cytokine secretion [GO:0050710]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of histone acetylation [GO:0035067]; negative regulation of histone deacetylation [GO:0031064]; negative regulation of immune response [GO:0050777]; negative regulation of interferon-gamma biosynthetic process [GO:0045077]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-10 production [GO:0032693]; negative regulation of interleukin-17 production [GO:0032700]; negative regulation of interleukin-2 biosynthetic process [GO:0045085]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of interleukin-4 production [GO:0032713]; negative regulation of interleukin-5 production [GO:0032714]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of isotype switching to IgE isotypes [GO:0048294]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of T cell cytokine production [GO:0002725]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of T-helper 17 cell differentiation [GO:2000320]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of tumor necrosis factor production [GO:0032720]; positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation [GO:0032831]; positive regulation of histone acetylation [GO:0035066]; positive regulation of immature T cell proliferation in thymus [GO:0033092]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of peripheral T cell tolerance induction [GO:0002851]; positive regulation of T cell anergy [GO:0002669]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta1 production [GO:0032914]; regulation of isotype switching to IgG isotypes [GO:0048302]; regulation of regulatory T cell differentiation [GO:0045589]; regulation of T cell anergy [GO:0002667]; regulation of transcription, DNA-templated [GO:0006355]; regulation of Wnt signaling pathway [GO:0030111]; response to virus [GO:0009615]; T cell activation [GO:0042110]; T cell homeostasis [GO:0043029]; T cell mediated immunity [GO:0002456]; T cell receptor signaling pathway [GO:0050852]; tolerance induction to self antigen [GO:0002513]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BZS1-1; Sequence=Displayed; Name=2; IsoId=Q9BZS1-2; Sequence=VSP_015796; Name=3; IsoId=Q9BZS1-3; Sequence=VSP_015796, VSP_036418; Note=No experimental confirmation available.; Name=4; IsoId=Q9BZS1-4; Sequence=VSP_047859; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:17360565, ECO:0000269|PubMed:18354202, ECO:0000269|PubMed:22678915, ECO:0000269|PubMed:23396208, ECO:0000269|PubMed:23973222, ECO:0000269|PubMed:23973223}. Cytoplasm {ECO:0000269|PubMed:22678915}. Note=Predominantly expressed in the cytoplasm in activated conventional T-cells whereas predominantly expressed in the nucleus in regulatory T-cells (Treg). The 41 kDa form derived by proteolytic processing is found exclusively in the chromatin fraction of activated Treg cells (By similarity). {ECO:0000250|UniProtKB:Q99JB6, ECO:0000269|PubMed:22678915}.


uniprotID: P25090
geneSymbol: FPR2
reactome: R-HSA-416476;R-HSA-418594;R-HSA-444473;R-HSA-6798695;
length: 351
go: ENSG00000171049;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
N-formyl peptide receptor 2 (FMLP-related receptor I) (FMLP-R-I) (Formyl peptide receptor-like 1) (HM63) (Lipoxin A4 receptor) (LXA4 receptor) (RFP)

sequence:

opentargets:
cytoplasm [GO:0005737]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; cargo receptor activity [GO:0038024]; G protein-coupled receptor activity [GO:0004930]; N-formyl peptide receptor activity [GO:0004982]; scavenger receptor binding [GO:0005124]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; astrocyte activation [GO:0048143]; calcium-mediated signaling [GO:0019722]; cell adhesion [GO:0007155]; cellular response to amyloid-beta [GO:1904646]; chemotaxis [GO:0006935]; complement receptor mediated signaling pathway [GO:0002430]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; microglial cell activation [GO:0001774]; neutrophil degranulation [GO:0043312]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive chemotaxis [GO:0050918]; positive regulation of 1-phosphatidylinositol-3-kinase activity [GO:0061903]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of superoxide anion generation [GO:0032930]; receptor-mediated endocytosis [GO:0006898]


uniprotID: P09958
geneSymbol: FURIN
pdb: 4OMC;4OMD;4RYD;4Z2A;5JMO;5JXG;5JXH;5JXI;5JXJ;5MIM;6EQV;6EQW;6EQX;
length: 794
go: ENSG00000140564;
drug: DB03600;DB04951;
snps: rs16944971
reactome:
R-HSA-1181150;R-HSA-1442490;R-HSA-1566948;R-HSA-1592389;R-HSA-159782;R-HSA-167060;R-HSA-171286;R-HSA-186797;R-HSA-1912420;R-HSA-2173789;R-HSA-5210891;R-HSA-6809371;R-HSA-8963889;R-HSA-977225;

name:
Furin (EC 3.4.21.75) (Dibasic-processing enzyme) (Paired basic amino acid residue-cleaving enzyme) (PACE)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; trans-Golgi network transport vesicle [GO:0030140]; endopeptidase activity [GO:0004175]; metal ion binding [GO:0046872]; nerve growth factor binding [GO:0048406]; peptidase activity [GO:0008233]; peptide binding [GO:0042277]; protease binding [GO:0002020]; serine-type endopeptidase activity [GO:0004252]; serine-type endopeptidase inhibitor activity [GO:0004867]; cell proliferation [GO:0008283]; cellular protein metabolic process [GO:0044267]; collagen catabolic process [GO:0030574]; cornification [GO:0070268]; dibasic protein processing [GO:0090472]; extracellular matrix disassembly [GO:0022617]; extracellular matrix organization [GO:0030198]; negative regulation of low-density lipoprotein particle receptor catabolic process [GO:0032804]; negative regulation of transforming growth factor beta1 production [GO:0032911]; nerve growth factor production [GO:0032902]; peptide biosynthetic process [GO:0043043]; peptide hormone processing [GO:0016486]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of transforming growth factor beta1 activation [GO:1901394]; protein processing [GO:0016485]; regulation of endopeptidase activity [GO:0052548]; regulation of lipoprotein lipase activity [GO:0051004]; regulation of low-density lipoprotein particle receptor biosynthetic process [GO:0045714]; regulation of protein catabolic process [GO:0042176]; regulation of signal transduction [GO:0009966]; secretion by cell [GO:0032940]; signal peptide processing [GO:0006465]; transforming growth factor beta receptor signaling pathway [GO:0007179]; viral life cycle [GO:0019058]; viral protein processing [GO:0019082]; zymogen activation [GO:0031638]; zymogen inhibition [GO:0097341]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:11331585, ECO:0000269|PubMed:11799113, ECO:0000269|PubMed:8846780, ECO:0000269|PubMed:9130696, ECO:0000269|PubMed:9412467}; Single-pass type I membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:11799113, ECO:0000269|PubMed:9130696, ECO:0000269|PubMed:9412467}; Single-pass type I membrane protein {ECO:0000305}. Secreted {ECO:0000305|PubMed:11799113}. Endosome membrane {ECO:0000269|PubMed:9412467}; Single-pass type I membrane protein {ECO:0000305}. Note=Shuttles between the trans-Golgi network and the cell surface (PubMed:9412467, PubMed:11799113). Propeptide cleavage is a prerequisite for exit of furin molecules out of the endoplasmic reticulum (ER). A second cleavage within the propeptide occurs in the trans Golgi network (TGN), followed by the release of the propeptide and the activation of furin (PubMed:11799113). {ECO:0000269|PubMed:11799113, ECO:0000269|PubMed:9412467}.


uniprotID: O43638
geneSymbol: FOXS1
length: 330
go: ENSG00000179772;
snps: rs2296917
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
name:
Forkhead box protein S1 (Forkhead-like 18 protein) (Forkhead-related transcription factor 10) (FREAC-10)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; anatomical structure morphogenesis [GO:0009653]; blood vessel development [GO:0001568]; cell differentiation [GO:0030154]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of transcription, DNA-templated [GO:0045892]; neuromuscular process controlling balance [GO:0050885]; positive regulation of multicellular organism growth [GO:0040018]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q01167
geneSymbol: FOXK2
reactome: R-HSA-5689603;
pdb: 1JXS;2C6Y;
length: 660
go: ENSG00000141568;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25805136}.
name:
Forkhead box protein K2 (Cellular transcription factor ILF-1) (FOXK1) (Interleukin enhancer-binding factor 1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; magnesium ion binding [GO:0000287]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q01167-1; Sequence=Displayed; Name=2; IsoId=Q01167-2; Sequence=VSP_001559; Name=3; IsoId=Q01167-3; Sequence=VSP_001560, VSP_001561; 


uniprotID: Q495W5
geneSymbol: FUT11
length: 492
go: ENSG00000196968;
snps: rs17853514
name:
Alpha-(1,3)-fucosyltransferase 11 (EC 2.4.1.-) (Fucosyltransferase XI) (Fuc-TXI) (FucT-XI) (Galactoside 3-L-fucosyltransferase 11) (Fucosyltransferase 11)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; alpha-(1->3)-fucosyltransferase activity [GO:0046920]; fucosylation [GO:0036065]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q495W5-1; Sequence=Displayed; Name=2; IsoId=Q495W5-2; Sequence=VSP_027511; Note=No experimental confirmation available.; 


uniprotID: Q96DB9
geneSymbol: FXYD5
name: FXYD domain-containing ion transport regulator 5 (Dysadherin)
length: 178
go: ENSG00000089327;
snps: rs1688005 rs12110
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MSPSGRLCLLTIVGLILPTRGQTLKDTTSSSSADSTIMDIQVPTRAPDAVYTELQPTSPTPTWPADETPQPQTQTQQLEGTDGPLVTDPETHKSTKAAHPTDDTTTLSERPSPSTDVQTDPQTLKPSGFHEDDPFFYDEHTLRKRGLLVAAVLFITGIIILTSGKCRQLSRLCRNRCR

opentargets:
integral component of membrane [GO:0016021]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; ion channel activity [GO:0005216]; sodium channel regulator activity [GO:0017080]; microvillus assembly [GO:0030033]; negative regulation of calcium-dependent cell-cell adhesion [GO:0046588]; regulation of sodium ion transmembrane transporter activity [GO:2000649]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DB9-1; Sequence=Displayed; Name=2; IsoId=Q96DB9-2; Sequence=VSP_001584; 


uniprotID: Q86XX4
geneSymbol: FRAS1
name: Extracellular matrix protein FRAS1
length: 4008
go: ENSG00000138759;
sequence:

opentargets:
basement membrane [GO:0005604]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; extracellular matrix structural constituent [GO:0005201]; metal ion binding [GO:0046872]; cell communication [GO:0007154]; embryonic limb morphogenesis [GO:0030326]; metanephros morphogenesis [GO:0003338]; morphogenesis of an epithelium [GO:0002009]; protein transport [GO:0015031]; roof of mouth development [GO:0060021]; skin development [GO:0043588]

snps:
rs4859905 rs17003071 rs7699637 rs7682296 rs6848030 rs6838959 rs12504081 rs35030041 rs345513 rs345512 rs6835769 rs17003166 rs17459809 rs12512164 rs17003213 rs4388111 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86XX4-1; Sequence=Displayed; Name=2; IsoId=Q86XX4-2; Sequence=VSP_011293, VSP_011294, VSP_011295, VSP_046232, VSP_011299; Note=No experimental confirmation available.; Name=4; IsoId=Q86XX4-4; Sequence=VSP_011287, VSP_011288; Note=No experimental confirmation available.; Name=5; IsoId=Q86XX4-5; Sequence=VSP_011291, VSP_011292; Note=No experimental confirmation available.; Name=6; IsoId=Q86XX4-6; Sequence=VSP_011289, VSP_011290; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}; Extracellular side {ECO:0000305}.


