# annotation

uniprotID: Q92956
geneSymbol: TNFRSF14
reactome: R-HSA-388841;R-HSA-5669034;
pdb: 1JMA;2AW2;4FHQ;4RSU;
length: 283
go: ENSG00000157873;
snps: rs4870 rs2234163 rs11573986 rs2234167
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Tumor necrosis factor receptor superfamily member 14 (Herpes virus entry mediator A) (Herpesvirus entry mediator A) (HveA) (Tumor necrosis factor receptor-like 2) (TR2) (CD antigen CD270)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; tumor necrosis factor-activated receptor activity [GO:0005031]; ubiquitin protein ligase binding [GO:0031625]; virus receptor activity [GO:0001618]; cell surface receptor signaling pathway [GO:0007166]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; immune response [GO:0006955]; negative regulation of alpha-beta T cell proliferation [GO:0046642]; positive regulation of cytokine secretion involved in immune response [GO:0002741]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of T cell migration [GO:2000406]; T cell costimulation [GO:0031295]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92956-1; Sequence=Displayed; Name=2; IsoId=Q92956-2; Sequence=VSP_054186; 


uniprotID: O75865
geneSymbol: TRAPPC6A
reactome: R-HSA-204005;R-HSA-8876198;
pdb: 2C0J;2J3T;
name: Trafficking protein particle complex subunit 6A (TRAPP complex subunit 6A)
length: 159
go: ENSG00000007255;
drug: DB08342;
sequence:
MADTVLFEFLHTEMVAELWAHDPDPGPGGQKMSLSVLEGMGFRVGQALGERLPRETLAFREELDVLKFLCKDLWVAVFQKQMDSLRTNHQGTYVLQDNSFPLLLPMASGLQYLEEAPKFLAFTCGLLRGALYTLGIESVVTASVAALPVCKFQVVIPKS

opentargets:
cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi membrane [GO:0000139]; trans-Golgi network [GO:0005802]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; melanosome assembly [GO:1903232]; regulation of GTPase activity [GO:0043087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75865-1; Sequence=Displayed; Name=2; IsoId=O75865-2; Sequence=VSP_019585; Name=3; IsoId=O75865-3; Sequence=VSP_047016; Note=Gene prediction based on EST data.; Name=4; IsoId=O75865-4; Sequence=VSP_047017; Note=Gene prediction based on EST data.; 


uniprotID: Q9UPQ9
geneSymbol: TNRC6B
name: Trinucleotide repeat-containing gene 6B protein
length: 1833
go: ENSG00000100354;
snps: rs17001767
reactome:
R-HSA-1912408;R-HSA-2559580;R-HSA-2559585;R-HSA-4086398;R-HSA-426496;R-HSA-5628897;R-HSA-5687128;R-HSA-8934593;R-HSA-8936459;R-HSA-8943723;R-HSA-8948700;R-HSA-9018519;

sequence:

opentargets:
cytosol [GO:0005829]; micro-ribonucleoprotein complex [GO:0035068]; nucleoplasm [GO:0005654]; P-body [GO:0000932]; RNA binding [GO:0003723]; gene silencing by miRNA [GO:0035195]; gene silencing by RNA [GO:0031047]; miRNA mediated inhibition of translation [GO:0035278]; negative regulation of gene expression [GO:0010629]; positive regulation of gene expression [GO:0010628]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening [GO:0060213]; posttranscriptional gene silencing by RNA [GO:0035194]; regulation of megakaryocyte differentiation [GO:0045652]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UPQ9-3; Sequence=Displayed; Name=2; IsoId=Q9UPQ9-1; Sequence=VSP_037292, VSP_037293; Name=3; IsoId=Q9UPQ9-2; Sequence=VSP_037290, VSP_037291, VSP_037293; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:19167051}. Note=Mammalian P-bodies are also known as GW bodies (GWBs).


uniprotID: Q6ICL3
geneSymbol: TANGO2
name: Transport and Golgi organization protein 2 homolog
length: 276
go: ENSG00000183597;
opentargets: Golgi apparatus [GO:0005794]; Golgi organization [GO:0007030]; protein secretion [GO:0009306]
snps: rs17855650 rs752298579 rs17854107 rs16982614
location: SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:26805781}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q6ICL3-1; Sequence=Displayed; Name=2; IsoId=Q6ICL3-2; Sequence=VSP_021139; Name=3; IsoId=Q6ICL3-3; Sequence=VSP_021137, VSP_021138; Note=No experimental confirmation available.; Name=4; IsoId=Q6ICL3-4; Sequence=VSP_055605; Name=5; IsoId=Q6ICL3-5; Sequence=VSP_055604; Name=6; IsoId=Q6ICL3-6; Sequence=VSP_055605, VSP_055606, VSP_055607; 


uniprotID: O14773
geneSymbol: TPP1
reactome: R-HSA-381038;
pdb: 1R60;3EDY;3EE6;
length: 563
go: ENSG00000166340;
name:
Tripeptidyl-peptidase 1 (TPP-1) (EC 3.4.14.9) (Cell growth-inhibiting gene 1 protein) (Lysosomal pepstatin-insensitive protease) (LPIC) (Tripeptidyl aminopeptidase) (Tripeptidyl-peptidase I) (TPP-I)

sequence:

opentargets:
extracellular exosome [GO:0070062]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; melanosome [GO:0042470]; endopeptidase activity [GO:0004175]; metal ion binding [GO:0046872]; peptidase activity [GO:0008233]; peptide binding [GO:0042277]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; tripeptidyl-peptidase activity [GO:0008240]; bone resorption [GO:0045453]; epithelial cell differentiation [GO:0030855]; IRE1-mediated unfolded protein response [GO:0036498]; lipid metabolic process [GO:0006629]; lysosome organization [GO:0007040]; nervous system development [GO:0007399]; neuromuscular process controlling balance [GO:0050885]; peptide catabolic process [GO:0043171]; protein catabolic process [GO:0030163]; proteolysis [GO:0006508]

snps:
rs2734715 rs121908195 rs1800746 rs121908204 rs764922748 rs34758634 rs121908205 rs28940573 rs121908209 rs757953998 rs121908207 rs796053439 rs119455957 rs119455958 rs121908196 rs765380155 rs121908197 rs121908206 rs119455953 rs119455954 rs121908198 rs121908199 rs121908200 rs119455956 rs121908201 rs398122959 rs121908203 rs121908202 rs121908208 rs121908210 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14773-1; Sequence=Displayed; Name=2; IsoId=O14773-2; Sequence=VSP_013118; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:19941651}. Melanosome {ECO:0000269|PubMed:12643545}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:12643545}.


uniprotID: O00300
geneSymbol: TNFRSF11B
reactome: R-HSA-5669034;
pdb: 3URF;
length: 401
go: ENSG00000164761;
snps: rs2073618 rs11573906
location: SUBCELLULAR LOCATION: Secreted.
name:
Tumor necrosis factor receptor superfamily member 11B (Osteoclastogenesis inhibitory factor) (Osteoprotegerin)

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; cytokine activity [GO:0005125]; signaling receptor activity [GO:0038023]; apoptotic process [GO:0006915]; extracellular matrix organization [GO:0030198]; negative regulation of bone resorption [GO:0045779]; negative regulation of odontogenesis of dentin-containing tooth [GO:0042489]; response to arsenic-containing substance [GO:0046685]; response to drug [GO:0042493]; response to estrogen [GO:0043627]; response to magnesium ion [GO:0032026]; response to nutrient [GO:0007584]; signal transduction [GO:0007165]; skeletal system development [GO:0001501]; tumor necrosis factor-mediated signaling pathway [GO:0033209]


uniprotID: Q7Z392
geneSymbol: TRAPPC11
reactome: R-HSA-8876198;
name: Trafficking protein particle complex subunit 11
length: 1133
go: ENSG00000168538;
snps: rs397509417 rs78663235
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; TRAPP complex [GO:0030008]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; protein complex oligomerization [GO:0051259]; regulation of protein complex stability [GO:0061635]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z392-1; Sequence=Displayed; Name=2; IsoId=Q7Z392-2; Sequence=VSP_035095, VSP_035098, VSP_035099; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z392-3; Sequence=VSP_035098, VSP_035099; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z392-4; Sequence=VSP_035096, VSP_035097; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:27862579}. Golgi apparatus, cis-Golgi network {ECO:0000250}.


uniprotID: O75962
geneSymbol: TRIO
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416476;R-HSA-416482;R-HSA-418885;
pdb: 1NTY;2NZ8;
name: Triple functional domain protein (EC 2.7.11.1) (PTPRF-interacting protein)
length: 3097
go: ENSG00000038382;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q0KL02}.
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein serine/threonine kinase activity [GO:0004674]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of fat cell differentiation [GO:0045599]; positive regulation of apoptotic process [GO:0043065]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; transmembrane receptor protein tyrosine phosphatase signaling pathway [GO:0007185]

snps:
rs55772118 rs16903367 rs879255628 rs756004023 rs879255626 rs879255627 rs16903474 rs55687522 rs56292586 rs771342869 rs55916212 rs1258664728 rs751663099 rs768858988 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O75962-1; Sequence=Displayed; Name=2; IsoId=O75962-2; Sequence=VSP_004467, VSP_004468; Name=3; IsoId=O75962-3; Sequence=VSP_023306, VSP_023307; Note=No experimental confirmation available.; Name=4; IsoId=O75962-4; Sequence=VSP_037860; Note=No experimental confirmation available.; Name=5; IsoId=O75962-5; Sequence=VSP_037861, VSP_037862; Note=No experimental confirmation available.; 


uniprotID: Q629K1
geneSymbol: TRIQK
name: Triple QxxK/R motif-containing protein (Triple repetitive-sequence of QXXK/R protein homolog)
sequence: MGRKDAATIKLPVDQYRKQIGKQDYKKTKPILRATKLKAEAKKTAIGIKEVGLVLAAILALLLAFYAFFYLRLTTDVDPDLDQDED
length: 86
go: ENSG00000205133;
opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18828657}; Single-pass membrane protein {ECO:0000269|PubMed:18828657}.


uniprotID: Q9UET6
geneSymbol: FTSJ1
reactome: R-HSA-6782315;
length: 329
go: ENSG00000068438;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03162}.
name:
Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase (EC 2.1.1.205) (2'-O-ribose RNA methyltransferase TRM7 homolog) (Protein ftsJ homolog 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; tRNA (cytosine-2'-O-)-methyltransferase activity [GO:0052666]; tRNA (guanosine-2'-O-)-methyltransferase activity [GO:0009020]; tRNA methyltransferase activity [GO:0008175]; cytoplasmic translation [GO:0002181]; tRNA methylation [GO:0030488]; tRNA modification [GO:0006400]; tRNA nucleoside ribose methylation [GO:0002128]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UET6-1; Sequence=Displayed; Name=2; IsoId=Q9UET6-2; Sequence=VSP_041419; 


uniprotID: O43617
geneSymbol: TRAPPC3
reactome: R-HSA-204005;R-HSA-8876198;
pdb: 1SZ7;2C0J;2CFH;3KXC;
name: Trafficking protein particle complex subunit 3 (BET3 homolog)
length: 180
go: ENSG00000054116;
drug: DB08231;DB03796;DB08342;
sequence:
MSRQANRGTESKKMSSELFTLTYGALVTQLCKDYENDEDVNKQLDKMGFNIGVRLIEDFLARSNVGRCHDFRETADVIAKVAFKMYLGITPSITNWSPAGDEFSLILENNPLVDFVELPDNHSSLIYSNLLCGVLRGALEMVQMAVEAKFVQDTLKGDGVTEIRMRFIRRIEDNLPAGEE

opentargets:
cis-Golgi network membrane [GO:0033106]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; TRAPP complex [GO:0030008]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43617-1; Sequence=Displayed; Name=2; IsoId=O43617-2; Sequence=VSP_047015; Note=Gene prediction based on EST data.; 


uniprotID: A6NI03
geneSymbol: TRIM64B
name: Putative tripartite motif-containing protein 64B
length: 449
go: ENSG00000189253;
opentargets: intracellular [GO:0005622]; zinc ion binding [GO:0008270]
sequence:


uniprotID: Q9H4I3
geneSymbol: TRABD
name: TraB domain-containing protein (Protein TTG2)
length: 376
go: ENSG00000170638;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H4I3-1; Sequence=Displayed; Name=2; IsoId=Q9H4I3-2; Sequence=VSP_002441; Note=No experimental confirmation available.; 


uniprotID: Q9C030
geneSymbol: TRIM6
reactome: R-HSA-877300;
length: 488
go: ENSG00000121236;
snps: rs57856328
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17156811, ECO:0000269|PubMed:24882218}.
name:
Tripartite motif-containing protein 6 (EC 2.3.2.27) (RING finger protein 89) (RING-type E3 ubiquitin transferase TRIM6)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; protein binding, bridging [GO:0030674]; protein kinase binding [GO:0019901]; protein tyrosine kinase binding [GO:1990782]; transcription factor binding [GO:0008134]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; cellular response to interferon-beta [GO:0035458]; cellular response to virus [GO:0098586]; free ubiquitin chain polymerization [GO:0010994]; negative regulation of gene expression [GO:0010629]; negative regulation of stem cell differentiation [GO:2000737]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of viral genome replication [GO:0045071]; positive regulation of cytokine secretion involved in immune response [GO:0002741]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of gene expression [GO:0010628]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; positive regulation of type I interferon-mediated signaling pathway [GO:0060340]; protein polyubiquitination [GO:0000209]; protein trimerization [GO:0070206]; response to lipopolysaccharide [GO:0032496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9C030-1; Sequence=Displayed; Name=2; IsoId=Q9C030-2; Sequence=VSP_012087; Name=3; IsoId=Q9C030-3; Sequence=VSP_046924; Note=No experimental confirmation available.; 


uniprotID: Q5EBN2
geneSymbol: TRIM61
name: Putative tripartite motif-containing protein 61 (RING finger protein 35)
length: 209
go: ENSG00000183439;
opentargets: intracellular [GO:0005622]; zinc ion binding [GO:0008270]
sequence:


uniprotID: Q9NXH9
geneSymbol: TRMT1
reactome: R-HSA-6782315;
length: 659
go: ENSG00000104907;
name:
tRNA (guanine(26)-N(2))-dimethyltransferase (EC 2.1.1.216) (tRNA 2,2-dimethylguanosine-26 methyltransferase) (tRNA(guanine-26,N(2)-N(2)) methyltransferase) (tRNA(m(2,2)G26)dimethyltransferase)

sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; tRNA (guanine-N2-)-methyltransferase activity [GO:0004809]; tRNA binding [GO:0000049]; tRNA modification [GO:0006400]; tRNA N2-guanine methylation [GO:0002940]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXH9-1; Sequence=Displayed; Name=2; IsoId=Q9NXH9-2; Sequence=VSP_016720; Note=No experimental confirmation available.; 


uniprotID: A6NGJ6
geneSymbol: TRIM64
name: Tripartite motif-containing protein 64
length: 449
opentargets: intracellular [GO:0005622]; zinc ion binding [GO:0008270]
sequence:


uniprotID: Q96GJ1
geneSymbol: TRMT2B
name: tRNA (uracil(54)-C(5))-methyltransferase homolog (EC 2.1.1.35) (TRM2 homolog)
length: 504
go: ENSG00000188917;
opentargets: S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity [GO:0030697]
snps: rs7064613
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96GJ1-1; Sequence=Displayed; Name=2; IsoId=Q96GJ1-2; Sequence=VSP_029644; Note=No experimental confirmation available.; Name=3; IsoId=Q96GJ1-3; Sequence=VSP_029643; Note=No experimental confirmation available.; 


uniprotID: P0CI25
geneSymbol: TRIM49
length: 452
go: ENSG00000168930;
opentargets: intracellular [GO:0005622]; protein kinase binding [GO:0019901]; zinc ion binding [GO:0008270]
snps: rs12417980
name:
Tripartite motif-containing protein 49 (RING finger protein 18) (Testis-specific RING-finger protein)

sequence:


uniprotID: Q9BRZ2
geneSymbol: TRIM56
reactome: R-HSA-3134975;
pdb: 5JW7;
length: 755
go: ENSG00000169871;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21289118}.
name:
E3 ubiquitin-protein ligase TRIM56 (EC 2.3.2.27) (RING finger protein 109) (RING-type E3 ubiquitin transferase TRIM56) (Tripartite motif-containing protein 56)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; RNA binding [GO:0003723]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; defense response to virus [GO:0051607]; interferon-beta production [GO:0032608]; protein K63-linked ubiquitination [GO:0070534]; regulation of type I interferon production [GO:0032479]; response to type I interferon [GO:0034340]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BRZ2-1; Sequence=Displayed; Name=2; IsoId=Q9BRZ2-2; Sequence=VSP_029111, VSP_029112; Note=No experimental confirmation available.; Name=3; IsoId=Q9BRZ2-3; Sequence=VSP_029109, VSP_029110; 


uniprotID: Q96H15
geneSymbol: TIMD4
pdb: 5DZN;5F7F;5F7H;
length: 378
go: ENSG00000145850;
opentargets: integral component of membrane [GO:0016021]
snps: rs6873053 rs7731575
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
T-cell immunoglobulin and mucin domain-containing protein 4 (TIMD-4) (T-cell immunoglobulin mucin receptor 4) (TIM-4) (T-cell membrane protein 4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96H15-1; Sequence=Displayed; Name=2; IsoId=Q96H15-2; Sequence=VSP_045474; Note=No experimental confirmation available.; 


uniprotID: Q86SZ2
geneSymbol: TRAPPC6B
reactome: R-HSA-204005;R-HSA-8876198;
pdb: 2BJN;2CFH;3KXC;
name: Trafficking protein particle complex subunit 6B (TRAPP complex subunit 6B)
length: 158
go: ENSG00000182400;
drug: DB08342;
sequence:
MADEALFLLLHNEMVSGVYKSAEQGEVENGRCITKLENMGFRVGQGLIERFTKDTARFKDELDIMKFICKDFWTTVFKKQIDNLRTNHQGIYVLQDNKFRLLTQMSAGKQYLEHASKYLAFTCGLIRGGLSNLGIKSIVTAEVSSMPACKFQVMIQKL

opentargets:
cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi membrane [GO:0000139]; trans-Golgi network [GO:0005802]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; nervous system development [GO:0007399]; regulation of GTPase activity [GO:0043087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86SZ2-1; Sequence=Displayed; Name=2; IsoId=Q86SZ2-2; Sequence=VSP_009659; 


uniprotID: Q13641
geneSymbol: TPBG
pdb: 4CNC;4CNM;
length: 420
go: ENSG00000146242;
name:
Trophoblast glycoprotein (5T4 oncofetal antigen) (5T4 oncofetal trophoblast glycoprotein) (5T4 oncotrophoblast glycoprotein) (M6P1) (Wnt-activated inhibitory factor 1) (WAIF1)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; integral component of plasma membrane [GO:0005887]; cell adhesion [GO:0007155]; positive regulation of synapse assembly [GO:0051965]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24582434}; Single-pass type I membrane protein {ECO:0000269|PubMed:24582434}.


uniprotID: P01850
geneSymbol: TRBC1
reactome: R-HSA-198933;R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-389948;
name: T cell receptor beta constant 1
length: 176
drug: DB02740;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000303|PubMed:20452950}.
pdb:
1AO7;1FYT;1J8H;1KGC;1KTK;1MI5;1OGA;1YMM;1ZGL;2AK4;2AXH;2BNQ;2BNR;2BNU;2CDE;2CDF;2CDG;2ESV;2F53;2F54;2GJ6;2IAL;2IAM;2IAN;2NTS;2NW2;2NX5;2P5E;2P5W;2PO6;2PYE;2PYF;2VLJ;2VLK;2VLM;2VLR;2XN9;2XNA;3ARB;3ARD;3ARE;3ARF;3ARG;3D39;3D3V;3DX9;3DXA;3FFC;3HE6;3HG1;3KPR;3KPS;3O4L;3TN0;4G8E;4G8F;4GG6;4GG8;4IIQ;4JFD;4JFE;4JFF;4JFH;4JRX;4JRY;4L4T;4L4V;4L9L;4LCC;4LCW;4MJI;4MNQ;4NQC;4NQD;4NQE;4OZF;4OZG;4OZH;4OZI;4P46;4PRH;4PRI;4PRP;4X6B;4X6C;4X6D;4ZDH;

sequence:
DLNKVFPPEVAVFEPSEAEISHTQKATLVCLATGFFPDHVELSWWVNGKEVHSGVSTDPQPLKEQPALNDSRYCLSSRLRVSATFWQNPRNHFRCQVQFYGLSENDEWTQDRAKPVTQIVSAEAWGRADCGFTSVSYQQGVLSATILYEILLGKATLYAVLVSALVLMAMVKRKDF

opentargets:
external side of plasma membrane [GO:0009897]; immunoglobulin complex, circulating [GO:0042571]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; B cell receptor signaling pathway [GO:0050853]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; immune response [GO:0006955]; innate immune response [GO:0045087]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]


uniprotID: Q9BVS5
geneSymbol: TRMT61B
reactome: R-HSA-6787450;
pdb: 2B25;
length: 477
go: ENSG00000171103;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23097428}.
name:
tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial (EC 2.1.1.220) (mRNA methyladenosine-N(1)-methyltransferase) (EC 2.1.1.-)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; tRNA (m1A) methyltransferase complex [GO:0031515]; mRNA (adenine-N1-)-methyltransferase activity [GO:0061953]; rRNA (adenine) methyltransferase activity [GO:0016433]; tRNA (adenine-N1-)-methyltransferase activity [GO:0016429]; mitochondrial tRNA methylation [GO:0070901]; mRNA methylation [GO:0080009]; protein homooligomerization [GO:0051260]; tRNA methylation [GO:0030488]


uniprotID: Q969Q1
geneSymbol: TRIM63
reactome: R-HSA-983168;
pdb: 2D8U;3DDT;4M3L;
length: 353
go: ENSG00000158022;
snps: rs762015648 rs758754060 rs529429430 rs142601731 rs376414719 rs2275950 rs201397530 rs202001619
name:
E3 ubiquitin-protein ligase TRIM63 (EC 2.3.2.27) (Iris RING finger protein) (Muscle-specific RING finger protein 1) (MuRF-1) (MuRF1) (RING finger protein 28) (RING-type E3 ubiquitin transferase TRIM63) (Striated muscle RING zinc finger protein) (Tripartite motif-containing protein 63)

sequence:

opentargets:
cytoplasm [GO:0005737]; M band [GO:0031430]; microtubule [GO:0005874]; nucleus [GO:0005634]; Z disc [GO:0030018]; titin binding [GO:0031432]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; muscle contraction [GO:0006936]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; response to electrical stimulus involved in regulation of muscle adaptation [GO:0014878]; response to glucocorticoid [GO:0051384]; response to interleukin-1 [GO:0070555]; signal transduction [GO:0007165]; skeletal muscle atrophy [GO:0014732]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969Q1-1; Sequence=Displayed; Name=2; IsoId=Q969Q1-2; Sequence=VSP_055443; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000250}. Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with TNNI3 in myocytes (By similarity). Localizes to the M- and Z-lines in skeletal muscle. {ECO:0000250}.


uniprotID: P02788
geneSymbol: LTF
reactome: R-HSA-1222449;R-HSA-6798695;R-HSA-6799990;R-HSA-6803157;R-HSA-977225;
length: 710
go: ENSG00000012223;
drug: DB06987;DB03485;DB03017;DB04743;DB03040;DB08439;
snps: rs10662431 rs1126477 rs1126478 rs1126479 rs1042055 rs2073495
pdb:
1B0L;1BKA;1CB6;1DSN;1EH3;1FCK;1H43;1H44;1H45;1HSE;1L5T;1LCF;1LCT;1LFG;1LFH;1LFI;1LGB;1N76;1SQY;1U62;1VFD;1VFE;1XV4;1XV7;1Z6V;1Z6W;2BJJ;2DP4;2GMC;2GMD;2HD4;2PMS;

name:
Lactotransferrin (Lactoferrin) (EC 3.4.21.-) (Growth-inhibiting protein 12) (Talalactoferrin) [Cleaved into: Lactoferricin-H (Lfcin-H); Kaliocin-1; Lactoferroxin-A; Lactoferroxin-B; Lactoferroxin-C]

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; other organism cell membrane [GO:0044218]; phagocytic vesicle lumen [GO:0097013]; protein-containing complex [GO:0032991]; secretory granule [GO:0030141]; specific granule [GO:0042581]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; DNA binding [GO:0003677]; heparin binding [GO:0008201]; iron ion binding [GO:0005506]; lipopolysaccharide binding [GO:0001530]; protein serine/threonine kinase activator activity [GO:0043539]; serine-type endopeptidase activity [GO:0004252]; antibacterial humoral response [GO:0019731]; antifungal humoral response [GO:0019732]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; bone morphogenesis [GO:0060349]; cellular protein metabolic process [GO:0044267]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; humoral immune response [GO:0006959]; innate immune response [GO:0045087]; innate immune response in mucosa [GO:0002227]; ion transport [GO:0006811]; iron assimilation by chelation and transport [GO:0033214]; killing of cells of other organism [GO:0031640]; membrane disruption in other organism [GO:0051673]; negative regulation by host of viral process [GO:0044793]; negative regulation of apoptotic process [GO:0043066]; negative regulation of ATPase activity [GO:0032780]; negative regulation of cysteine-type endopeptidase activity [GO:2000117]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; negative regulation of membrane potential [GO:0045837]; negative regulation of osteoclast development [GO:2001205]; negative regulation of single-species biofilm formation in or on host organism [GO:1900229]; negative regulation of tumor necrosis factor (ligand) superfamily member 11 production [GO:2000308]; negative regulation of viral genome replication [GO:0045071]; negative regulation of viral process [GO:0048525]; neutrophil degranulation [GO:0043312]; ossification [GO:0001503]; positive regulation of bone mineralization involved in bone maturation [GO:1900159]; positive regulation of chondrocyte proliferation [GO:1902732]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of osteoblast proliferation [GO:0033690]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of toll-like receptor 4 signaling pathway [GO:0034145]; regulation of cytokine production [GO:0001817]; regulation of tumor necrosis factor production [GO:0032680]; retina homeostasis [GO:0001895]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=1; IsoId=P02788-1; Sequence=Displayed; Name=DeltaLf; Synonyms=Delta-lactoferrin; IsoId=P02788-2; Sequence=VSP_044308; Note=Contains a phosphoserine at position 10 (alternate). Contains a O-linked (GlcNAc) serine at position 10 (alternate). O-GlcNAcylation at Ser-10 inhibits DNA binding and negatively regulates DeltaLf transcriptional activity, whereas phosphorylation activates it. Phosphorylation at Ser-10 also promotes proteasomal degradation. {ECO:0000269|PubMed:20404350}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted. Cytoplasmic granule. Note=Secreted into most exocrine fluids by various endothelial cells. Stored in the secondary granules of neutrophils.; SUBCELLULAR LOCATION: Isoform DeltaLf: Cytoplasm. Nucleus. Note=Mainly localized in the cytoplasm.


uniprotID: Q12899
geneSymbol: TRIM26
reactome: R-HSA-877300;
length: 539
go: ENSG00000234127;
snps: rs17194565
name:
Tripartite motif-containing protein 26 (EC 2.3.2.27) (Acid finger protein) (AFP) (RING finger protein 95) (Zinc finger protein 173)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; transferase activity [GO:0016740]; zinc ion binding [GO:0008270]; innate immune response [GO:0045087]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of viral entry into host cell [GO:0046597]; negative regulation of viral release from host cell [GO:1902187]; positive regulation of DNA-binding transcription factor activity [GO:0051091]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25763818}. Nucleus {ECO:0000269|PubMed:25763818}. Note=Viral infection mediates TRIM26 nuclear translocation. {ECO:0000269|PubMed:25763818}.


uniprotID: Q15654
geneSymbol: TRIP6
pdb: 1X61;2DLO;
length: 476
go: ENSG00000087077;
snps: rs2437100 rs2075756 rs17855370
name:
Thyroid receptor-interacting protein 6 (TR-interacting protein 6) (TRIP-6) (Opa-interacting protein 1) (OIP-1) (Zyxin-related protein 1) (ZRP-1)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; interleukin-1 receptor binding [GO:0005149]; kinase binding [GO:0019900]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; thyroid hormone receptor binding [GO:0046966]; focal adhesion assembly [GO:0048041]; positive regulation of cell migration [GO:0030335]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15654-1; Sequence=Displayed; Name=2; IsoId=Q15654-2; Sequence=VSP_047621, VSP_047624; Name=3; IsoId=Q15654-3; Sequence=VSP_047622, VSP_047623; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16624523}. Cell junction, focal adhesion {ECO:0000269|PubMed:16624523}. Nucleus {ECO:0000269|PubMed:10826496, ECO:0000269|PubMed:16624523}. Cytoplasm {ECO:0000269|PubMed:16624523}. Note=Shuttles between nucleus and cytoplasm (PubMed:16624523). Colocalizes with actin (PubMed:10826496). {ECO:0000269|PubMed:10826496, ECO:0000269|PubMed:16624523}.


uniprotID: P14373
geneSymbol: TRIM27
reactome: R-HSA-3232142;R-HSA-8948751;
length: 513
go: ENSG00000204713;
name:
Zinc finger protein RFP (EC 2.3.2.27) (RING finger protein 76) (RING-type E3 ubiquitin transferase TRIM27) (Ret finger protein) (Tripartite motif-containing protein 27)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; endosome [GO:0005768]; fibrillar center [GO:0001650]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; SUMO transferase activity [GO:0019789]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; cell proliferation [GO:0008283]; innate immune response [GO:0045087]; interferon-gamma secretion [GO:0072643]; negative regulation of adaptive immune response [GO:0002820]; negative regulation of calcium ion import [GO:0090281]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of interleukin-2 secretion [GO:1900041]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of tumor necrosis factor production [GO:0032720]; negative regulation of viral release from host cell [GO:1902187]; negative regulation of viral transcription [GO:0032897]; positive regulation of actin nucleation [GO:0051127]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; protein K63-linked ubiquitination [GO:0070534]; protein trimerization [GO:0070206]; retrograde transport, endosome to Golgi [GO:0042147]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha; IsoId=P14373-1; Sequence=Displayed; Name=Beta; IsoId=P14373-2; Sequence=VSP_010896, VSP_010897; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17156811}. Cytoplasm {ECO:0000269|PubMed:17156811}. Nucleus, PML body {ECO:0000250}. Early endosome {ECO:0000269|PubMed:1437549, ECO:0000269|PubMed:23452853, ECO:0000269|PubMed:9247190}. Note=Nuclear or cytoplasmic depending on the cell type (By similarity). Colocalized with PML and EIF3S6 in nuclear bodies. Recruited to retromer-containing endosomes via interaction with MAGEL2 (PubMed:23452853). {ECO:0000250, ECO:0000269|PubMed:23452853}.


uniprotID: Q14134
geneSymbol: TRIM29
reactome: R-HSA-877300;
pdb: 2CSV;
name: Tripartite motif-containing protein 29 (Ataxia telangiectasia group D-associated protein)
length: 588
go: ENSG00000137699;
snps: rs112973609
sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; lysosome [GO:0005764]; cadherin binding involved in cell-cell adhesion [GO:0098641]; DNA-binding transcription factor activity [GO:0003700]; identical protein binding [GO:0042802]; p53 binding [GO:0002039]; zinc ion binding [GO:0008270]; innate immune response [GO:0045087]; negative regulation of protein localization to nucleus [GO:1900181]; negative regulation of transcription by RNA polymerase II [GO:0000122]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha; IsoId=Q14134-1; Sequence=Displayed; Name=Beta; IsoId=Q14134-2; Sequence=VSP_011999; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7644499}. Lysosome {ECO:0000269|PubMed:27695001}. Note=Colocalizes with intermediate filaments.


uniprotID: Q4V9L6
geneSymbol: TMEM119
name: Transmembrane protein 119 (Osteoblast induction factor) (OBIF)
length: 283
go: ENSG00000183160;
snps: rs7975237
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; biomineral tissue development [GO:0031214]; osteoblast differentiation [GO:0001649]; positive regulation of bone development [GO:1903012]; positive regulation of bone mineralization [GO:0030501]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of osteoblast proliferation [GO:0033690]; spermatid differentiation [GO:0048515]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20025746, ECO:0000269|PubMed:26250788}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasm {ECO:0000250|UniProtKB:Q8R138}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8R138}.


uniprotID: P11388
geneSymbol: TOP2A
reactome: R-HSA-1362277;R-HSA-4615885;
pdb: 1LWZ;1ZXM;1ZXN;4FM9;4R1F;5GWK;5NNE;
name: DNA topoisomerase 2-alpha (EC 5.99.1.3) (DNA topoisomerase II, alpha isozyme)
length: 1531
go: ENSG00000131747;
snps: rs746765101 rs267607133 rs28969502 rs34300454 rs11540720
sequence:

opentargets:
condensed chromosome [GO:0000793]; cytoplasm [GO:0005737]; DNA topoisomerase complex (ATP-hydrolyzing) [GO:0009330]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; ribonucleoprotein complex [GO:1990904]; viral integration complex [GO:0019035]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA binding, bending [GO:0008301]; DNA topoisomerase type II (ATP-hydrolyzing) activity [GO:0003918]; DNA-dependent ATPase activity [GO:0008094]; drug binding [GO:0008144]; enzyme binding [GO:0019899]; histone deacetylase binding [GO:0042826]; magnesium ion binding [GO:0000287]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase C binding [GO:0005080]; RNA binding [GO:0003723]; ubiquitin binding [GO:0043130]; apoptotic chromosome condensation [GO:0030263]; cellular response to DNA damage stimulus [GO:0006974]; chromosome segregation [GO:0007059]; DNA ligation [GO:0006266]; DNA topological change [GO:0006265]; embryonic cleavage [GO:0040016]; female meiotic nuclear division [GO:0007143]; hematopoietic progenitor cell differentiation [GO:0002244]; mitotic DNA integrity checkpoint [GO:0044774]; negative regulation of DNA duplex unwinding [GO:1905463]; positive regulation of apoptotic process [GO:0043065]; positive regulation of single stranded viral RNA replication via double stranded DNA intermediate [GO:0045870]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of circadian rhythm [GO:0042752]; resolution of meiotic recombination intermediates [GO:0000712]; rhythmic process [GO:0048511]; sister chromatid segregation [GO:0000819]

drug:
DB05022;DB06263;DB00276;DB04975;DB00537;DB00970;DB00694;DB00380;DB00997;DB05129;DB00467;DB00445;DB00773;DB09047;DB04576;DB01645;DB01177;DB01137;DB00978;DB04967;DB01204;DB00218;DB01059;DB01165;DB00487;DB01179;DB05920;DB04978;DB01208;DB00444;DB00685;DB00385;DB06042;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P11388-1; Sequence=Displayed; Name=2; IsoId=P11388-2; Sequence=VSP_006531; Name=3; IsoId=P11388-3; Sequence=VSP_006529; Name=4; IsoId=P11388-4; Sequence=VSP_006530; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22013166}. Nucleus, nucleoplasm {ECO:0000269|PubMed:22013166}. Note=Generally located in the nucleoplasm.


uniprotID: P19438
geneSymbol: TNFRSF1A
reactome: R-HSA-5357786;R-HSA-5357905;R-HSA-5357956;R-HSA-5626978;R-HSA-5669034;R-HSA-6783783;R-HSA-75893;
pdb: 1EXT;1FT4;1ICH;1NCF;1TNR;
length: 455
go: ENSG00000067182;
name:
Tumor necrosis factor receptor superfamily member 1A (Tumor necrosis factor receptor 1) (TNF-R1) (Tumor necrosis factor receptor type I) (TNF-RI) (TNFR-I) (p55) (p60) (CD antigen CD120a) [Cleaved into: Tumor necrosis factor receptor superfamily member 1A, membrane form; Tumor necrosis factor-binding protein 1 (TBPI)]

sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; tumor necrosis factor receptor superfamily complex [GO:0002947]; identical protein binding [GO:0042802]; tumor necrosis factor binding [GO:0043120]; tumor necrosis factor-activated receptor activity [GO:0005031]; aortic valve development [GO:0003176]; cellular response to mechanical stimulus [GO:0071260]; cytokine-mediated signaling pathway [GO:0019221]; death-inducing signaling complex assembly [GO:0071550]; defense response to bacterium [GO:0042742]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; negative regulation of extracellular matrix constituent secretion [GO:0003332]; negative regulation of inflammatory response [GO:0050728]; positive regulation of apoptotic process involved in morphogenesis [GO:1902339]; positive regulation of ceramide biosynthetic process [GO:2000304]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of inflammatory response [GO:0050729]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; prostaglandin metabolic process [GO:0006693]; protein localization to plasma membrane [GO:0072659]; pulmonary valve development [GO:0003177]; regulation of establishment of endothelial barrier [GO:1903140]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]

snps:
rs104895254 rs104895217 rs104895223 rs104895225 rs104895218 rs4149637 rs104895219 rs104895220 rs104895228 rs104895221 rs104895222 rs4149584 rs4149584 rs1804532 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=FL-TNFR1; IsoId=P19438-1; Sequence=Displayed; Name=2; IsoId=P19438-2; Sequence=VSP_037153; Note=No experimental confirmation available.; Name=4; Synonyms=Delta6-TNFR1; IsoId=P19438-4; Sequence=VSP_044949; Note=Disease-associated isoform. Isoform 4 splicing pattern is driven by a variation in the exon 6/intron 6 boundary region that alters exon 6 splicing. Exon 6 skipping introduces a frameshift and the translation of a protein lacking the intracellular, the transmembrane and part of the extracellular domain.; Name=3; IsoId=P19438-3; Sequence=VSP_037154; Note=No experimental confirmation available.; Name=5; IsoId=P19438-5; Sequence=VSP_047613, VSP_047614; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22801493}; Single-pass type I membrane protein {ECO:0000269|PubMed:22801493}. Golgi apparatus membrane {ECO:0000269|PubMed:22801493}; Single-pass type I membrane protein {ECO:0000269|PubMed:22801493}. Secreted {ECO:0000269|PubMed:22801493}. Note=A secreted form is produced through proteolytic processing.; SUBCELLULAR LOCATION: Isoform 4: Secreted. Note=Lacks a Golgi-retention motif, is not membrane bound and therefore is secreted.


uniprotID: P59282
geneSymbol: TPPP2
name: Tubulin polymerization-promoting protein family member 2 (Protein p25-beta) (TPPP/p18)
length: 170
go: ENSG00000179636;
snps: rs9624
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:17105200}.
sequence:
MASEAEKTFHRFAAFGESSSSGTEMNNKNFSKLCKDCGIMDGKTVTSTDVDIVFSKVKAKNARTITFQQFKEAVKELGQKRFKGKSPDEVLENIYGLMEGKDPATTGATKATTVGAVDRLTDTSKYTGTHKERFDESGKGKGIAGREEMTDNTGYVSGYKGSGTYDKKTK

opentargets:
cytosol [GO:0005829]; tubulin binding [GO:0015631]; microtubule bundle formation [GO:0001578]; microtubule polymerization [GO:0046785]; positive regulation of protein polymerization [GO:0032273]


uniprotID: P40225
geneSymbol: THPO
reactome: R-HSA-76009;
pdb: 1V7M;1V7N;
length: 353
go: ENSG00000090534;
snps: rs1042346 rs1126665
location: SUBCELLULAR LOCATION: Secreted.
name:
Thrombopoietin (C-mpl ligand) (ML) (Megakaryocyte colony-stimulating factor) (Megakaryocyte growth and development factor) (MGDF) (Myeloproliferative leukemia virus oncogene ligand)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; signaling receptor binding [GO:0005102]; cell proliferation [GO:0008283]; multicellular organism development [GO:0007275]; myeloid cell differentiation [GO:0030099]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of hematopoietic stem cell proliferation [GO:1902035]; positive regulation of megakaryocyte differentiation [GO:0045654]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; thrombopoietin-mediated signaling pathway [GO:0038163]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P40225-1; Sequence=Displayed; Name=2; Synonyms=TPO-2; IsoId=P40225-2; Sequence=VSP_001450; Name=3; Synonyms=Truncated; IsoId=P40225-3; Sequence=VSP_001451; 


uniprotID: O14763
geneSymbol: TNFRSF10B
pdb: 1D0G;1D4V;1DU3;1ZA3;2H9G;3X3F;4I9X;4N90;4OD2;
length: 440
go: ENSG00000120889;
drug: DB05895;
snps: rs1129424 rs1047266 rs13265018
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-140534;R-HSA-202733;R-HSA-3371378;R-HSA-5213460;R-HSA-5218900;R-HSA-6803211;R-HSA-69416;R-HSA-75158;

name:
Tumor necrosis factor receptor superfamily member 10B (Death receptor 5) (TNF-related apoptosis-inducing ligand receptor 2) (TRAIL receptor 2) (TRAIL-R2) (CD antigen CD262)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; TRAIL binding [GO:0045569]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; apoptotic process [GO:0006915]; cell surface receptor signaling pathway [GO:0007166]; cellular response to mechanical stimulus [GO:0071260]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; leukocyte migration [GO:0050900]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; positive regulation of apoptotic process [GO:0043065]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; regulation of apoptotic process [GO:0042981]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; response to endoplasmic reticulum stress [GO:0034976]; TRAIL-activated apoptotic signaling pathway [GO:0036462]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; Synonyms=TRICK2B; IsoId=O14763-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=O14763-3; Sequence=VSP_039125; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=Short; Synonyms=TRICK2A; IsoId=O14763-2; Sequence=VSP_006490; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P02787
geneSymbol: TF
reactome: R-HSA-114608;R-HSA-381426;R-HSA-8856825;R-HSA-8856828;R-HSA-8957275;R-HSA-917937;R-HSA-917977;
name: Serotransferrin (Transferrin) (Beta-1 metal-binding globulin) (Siderophilin)
length: 698
go: ENSG00000091513;
drug: DB01370;DB01294;DB05260;DB00893;DB09146;
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1A8E;1A8F;1B3E;1BP5;1BTJ;1D3K;1D4N;1DTG;1FQE;1FQF;1JQF;1N7W;1N7X;1N84;1OQG;1OQH;1RYO;1SUV;2HAU;2HAV;2O7U;2O84;3FGS;3QYT;3S9L;3S9M;3S9N;3SKP;3V83;3V89;3V8X;3VE1;4H0W;4X1B;4X1D;5DYH;5H52;5WTD;5X5P;5Y6K;6D03;6D04;6D05;

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal part of cell [GO:0045178]; basal plasma membrane [GO:0009925]; blood microparticle [GO:0072562]; cell surface [GO:0009986]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasmic vesicle [GO:0031410]; early endosome [GO:0005769]; endocytic vesicle [GO:0030139]; endoplasmic reticulum lumen [GO:0005788]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of external side of plasma membrane [GO:0031232]; HFE-transferrin receptor complex [GO:1990712]; late endosome [GO:0005770]; perinuclear region of cytoplasm [GO:0048471]; recycling endosome [GO:0055037]; secretory granule lumen [GO:0034774]; vesicle [GO:0031982]; ferric iron binding [GO:0008199]; ferric iron transmembrane transporter activity [GO:0015091]; ferrous iron binding [GO:0008198]; iron chaperone activity [GO:0034986]; transferrin receptor binding [GO:1990459]; cellular iron ion homeostasis [GO:0006879]; cellular protein metabolic process [GO:0044267]; cellular response to iron ion [GO:0071281]; iron ion homeostasis [GO:0055072]; membrane organization [GO:0061024]; platelet degranulation [GO:0002576]; positive regulation of receptor-mediated endocytosis [GO:0048260]; post-translational protein modification [GO:0043687]; regulation of iron ion import [GO:1900390]; regulation of protein stability [GO:0031647]; retina homeostasis [GO:0001895]; transferrin transport [GO:0033572]

snps:
rs41298293 rs8177318 rs41298977 rs121918681 rs1799830 rs1799899 rs8177238 rs41295774 rs1804498 rs2692696 rs121918679 rs41296590 rs1049296 rs1130537 rs121918678 rs121918677 


uniprotID: Q8WV44
geneSymbol: TRIM41
reactome: R-HSA-983168;
pdb: 2EGM;
length: 630
go: ENSG00000146063;
snps: rs6601178 rs2241371
name:
E3 ubiquitin-protein ligase TRIM41 (EC 2.3.2.27) (RING finger-interacting protein with C kinase) (RINCK) (RING-type E3 ubiquitin transferase TRIM41) (Tripartite motif-containing protein 41)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; identical protein binding [GO:0042802]; transferase activity [GO:0016740]; zinc ion binding [GO:0008270]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to muramyl dipeptide [GO:0071225]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=TRIM41a, TRIM41alpha; IsoId=Q8WV44-1; Sequence=Displayed; Name=2; Synonyms=TRIM41b, TRIM41beta, RINCK1; IsoId=Q8WV44-2; Sequence=VSP_010395, VSP_010396; Name=3; IsoId=Q8WV44-3; Sequence=VSP_012515; Name=4; Synonyms=RINCK2; IsoId=Q8WV44-4; Sequence=VSP_012516, VSP_012517; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16022281}. Nucleus {ECO:0000269|PubMed:16022281}.


uniprotID: O15344
geneSymbol: MID1
reactome: R-HSA-877300;
pdb: 2DQ5;2FFW;2JUN;5IM8;
length: 667
go: ENSG00000101871;
snps: rs104894866 rs28934611
name:
E3 ubiquitin-protein ligase Midline-1 (EC 2.3.2.27) (Midin) (Putative transcription factor XPRF) (RING finger protein 59) (RING finger protein Midline-1) (RING-type E3 ubiquitin transferase Midline-1) (Tripartite motif-containing protein 18)

sequence:

opentargets:
cytosol [GO:0005829]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; spindle [GO:0005819]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; phosphoprotein binding [GO:0051219]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; transferase activity [GO:0016740]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; interferon-gamma-mediated signaling pathway [GO:0060333]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of microtubule depolymerization [GO:0007026]; pattern specification process [GO:0007389]; positive regulation of stress-activated MAPK cascade [GO:0032874]; protein localization to microtubule [GO:0035372]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha; IsoId=O15344-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=O15344-2; Sequence=VSP_005735; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10077590}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10077590}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:10077590}. Note=Microtubule-associated. It is associated with microtubules throughout the cell cycle, co-localizing with cytoplasmic fibers in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis.


uniprotID: Q9NP99
geneSymbol: TREM1
reactome: R-HSA-198933;R-HSA-202733;R-HSA-2172127;
pdb: 1Q8M;1SMO;
length: 234
go: ENSG00000124731;
drug: DB01694;
snps: rs2234237 rs34727391 rs2234245
name:
Triggering receptor expressed on myeloid cells 1 (TREM-1) (Triggering receptor expressed on monocytes 1) (CD antigen CD354)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; scaffold protein binding [GO:0097110]; signaling receptor activity [GO:0038023]; acute inflammatory response [GO:0002526]; humoral immune response [GO:0006959]; innate immune response [GO:0045087]; intracellular signal transduction [GO:0035556]; leukocyte migration [GO:0050900]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NP99-1; Sequence=Displayed; Name=2; Synonyms=TREM-1sv, sTREM1; IsoId=Q9NP99-2; Sequence=VSP_010790, VSP_010791; Name=3; IsoId=Q9NP99-3; Sequence=VSP_053939; 

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


uniprotID: O75382
geneSymbol: TRIM3
reactome: R-HSA-877300;
length: 744
go: ENSG00000110171;
snps: rs10128723
name:
Tripartite motif-containing protein 3 (Brain-expressed RING finger protein) (RING finger protein 22) (RING finger protein 97)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; early endosome [GO:0005769]; Golgi apparatus [GO:0005794]; protein C-terminus binding [GO:0008022]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; nervous system development [GO:0007399]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Alpha; IsoId=O75382-1; Sequence=Displayed; Name=Beta; IsoId=O75382-2; Sequence=VSP_005758; Name=Gamma; IsoId=O75382-3; Sequence=VSP_005759; Name=4; IsoId=O75382-4; Sequence=VSP_044780, VSP_044781; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Early endosome {ECO:0000269|PubMed:15772161}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q9R1R2}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q9R1R2}.


uniprotID: O60858
geneSymbol: TRIM13
reactome: R-HSA-901032;
length: 407
go: ENSG00000204977;
drug: DB01565;DB01548;DB01497;
snps: rs1056543
name:
E3 ubiquitin-protein ligase TRIM13 (EC 2.3.2.27) (B-cell chronic lymphocytic leukemia tumor suppressor Leu5) (Leukemia-associated protein 5) (Putative tumor suppressor RFP2) (RING finger protein 77) (RING-type E3 ubiquitin transferase TRIM13) (Ret finger protein 2) (Tripartite motif-containing protein 13)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum quality control compartment [GO:0044322]; integral component of membrane [GO:0016021]; perinuclear endoplasmic reticulum [GO:0097038]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; anatomical structure morphogenesis [GO:0009653]; endoplasmic reticulum mannose trimming [GO:1904380]; innate immune response [GO:0045087]; negative regulation of viral release from host cell [GO:1902187]; negative regulation of viral transcription [GO:0032897]; positive regulation of cell death [GO:0010942]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of macroautophagy [GO:0016239]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein autoubiquitination [GO:0051865]; response to gamma radiation [GO:0010332]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha; IsoId=O60858-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=O60858-2; Sequence=VSP_005746, VSP_005747; Name=3; IsoId=O60858-3; Sequence=VSP_038142; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:17314412, ECO:0000269|PubMed:21333377, ECO:0000269|PubMed:22178386, ECO:0000269|PubMed:25152375}; Single-pass membrane protein {ECO:0000269|PubMed:17314412, ECO:0000269|PubMed:21333377, ECO:0000269|PubMed:22178386}. Note=Concentrates and colocalizes with p62/SQSTM1 and ZFYVE1 at the perinuclear endoplasmic reticulum.


uniprotID: P0C7T8
geneSymbol: TMEM253
name: Transmembrane protein 253
length: 217
go: ENSG00000232070;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9Y6Q6
geneSymbol: TNFRSF11A
reactome: R-HSA-5668541;R-HSA-5676594;
pdb: 1LB5;
length: 616
go: ENSG00000141655;
snps: rs121908659 rs121908657 rs35211496 rs121908655 rs121908656 rs1805034 rs121908658
name:
Tumor necrosis factor receptor superfamily member 11A (Osteoclast differentiation factor receptor) (ODFR) (Receptor activator of NF-KB) (CD antigen CD265)

sequence:

opentargets:
cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cytokine binding [GO:0019955]; metal ion binding [GO:0046872]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; tumor necrosis factor-activated receptor activity [GO:0005031]; adaptive immune response [GO:0002250]; cell-cell signaling [GO:0007267]; circadian temperature homeostasis [GO:0060086]; lymph node development [GO:0048535]; mammary gland alveolus development [GO:0060749]; monocyte chemotaxis [GO:0002548]; multinuclear osteoclast differentiation [GO:0072674]; ossification [GO:0001503]; osteoclast differentiation [GO:0030316]; positive regulation of bone resorption [GO:0045780]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling [GO:0071848]; positive regulation of fever generation by positive regulation of prostaglandin secretion [GO:0071812]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; response to cytokine [GO:0034097]; response to interleukin-1 [GO:0070555]; response to lipopolysaccharide [GO:0032496]; response to radiation [GO:0009314]; response to tumor necrosis factor [GO:0034612]; signal transduction [GO:0007165]; TNFSF11-mediated signaling pathway [GO:0071847]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9Y6Q6-1; Sequence=Displayed; Name=2; Synonyms=delta7,8,9; IsoId=Q9Y6Q6-2; Sequence=VSP_046901; Name=3; Synonyms=delta8,9; IsoId=Q9Y6Q6-3; Sequence=VSP_054180; Name=4; Synonyms=delta9; IsoId=Q9Y6Q6-4; Sequence=VSP_054181, VSP_054182; Name=5; Synonyms=exon9a; IsoId=Q9Y6Q6-5; Sequence=VSP_054183; Name=RANK-e5a; IsoId=Q9Y6Q6-6; Sequence=VSP_054179; Note=Reduced ability to bind RANKL and to activate NF-kappaB as compared to isoform 1.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:23664977}; Single-pass type I membrane protein {ECO:0000269|PubMed:23664977}.; SUBCELLULAR LOCATION: Isoform RANK-e5a: Cell membrane {ECO:0000269|PubMed:23664977}; Single-pass type I membrane protein {ECO:0000269|PubMed:23664977}.


uniprotID: Q6UXN7
geneSymbol: TOMM20L
name: TOMM20-like protein 1
length: 152
go: ENSG00000196860;
sequence:
MPSVRSLLRLLAAAAACGAFAFLGYCIYLNRKRRGDPAFKRRLRDKRRAEPQKAEEQGTQLWDPTKNKKLQELFLQEVRMGELWLSRGEHRMGIQHLGNALLVCEQPRELLKVFKHTLPPKVFEMLLHKIPLICQQFEADMNEQDCLEDDPD

opentargets:
integral component of mitochondrial outer membrane [GO:0031307]; mitochondrial outer membrane translocase complex [GO:0005742]; mitochondrion targeting sequence binding [GO:0030943]; P-P-bond-hydrolysis-driven protein transmembrane transporter activity [GO:0015450]; mitochondrial outer membrane translocase complex assembly [GO:0070096]; protein import into mitochondrial matrix [GO:0030150]; tRNA import into mitochondrion [GO:0016031]

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


uniprotID: Q86UE8
geneSymbol: TLK2
pdb: 5O0Y;
length: 772
go: ENSG00000146872;
snps: rs45550140 rs2598147 rs762409144
name:
Serine/threonine-protein kinase tousled-like 2 (EC 2.7.11.1) (HsHPK) (PKU-alpha) (Tousled-like kinase 2)

sequence:

opentargets:
intermediate filament [GO:0005882]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; cell cycle [GO:0007049]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to gamma radiation [GO:0071480]; chromatin organization [GO:0006325]; chromosome segregation [GO:0007059]; intracellular signal transduction [GO:0035556]; negative regulation of autophagy [GO:0010507]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; regulation of chromatin assembly or disassembly [GO:0001672]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000305}; IsoId=Q86UE8-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:10523312}; IsoId=Q86UE8-2; Sequence=VSP_050573; Name=3 {ECO:0000269|PubMed:9427565}; IsoId=Q86UE8-3; Sequence=VSP_050572, VSP_050573; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Note=Colocalizes with the cytoplasmic intermediate filament system during the G1 phase of the cell cycle. Present in the perinuclear region at S phase and in the nucleus at late G2.


uniprotID: Q8NDY8
geneSymbol: TMEM52
name: Transmembrane protein 52
length: 209
go: ENSG00000178821;
opentargets: integral component of membrane [GO:0016021]
snps: rs28640257 rs4459050
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDY8-1; Sequence=Displayed; Name=2; IsoId=Q8NDY8-2; Sequence=VSP_024420; 


uniprotID: Q8N7U7
geneSymbol: TPRX1
name: Tetra-peptide repeat homeobox protein 1
length: 411
go: ENSG00000178928;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N7U7-1; Sequence=Displayed; Name=2; IsoId=Q8N7U7-2; Sequence=VSP_027444; Note=No experimental confirmation available.; 


uniprotID: Q12931
geneSymbol: TRAP1
reactome: R-HSA-611105;
pdb: 4Z1F;4Z1G;4Z1H;4Z1I;5F3K;5F5R;5HPH;5Y3N;5Y3O;
length: 704
go: ENSG00000126602;
snps: rs13926 rs1136948 rs55766649 rs2791
name:
Heat shock protein 75 kDa, mitochondrial (HSP 75) (TNFR-associated protein 1) (Tumor necrosis factor type 1 receptor-associated protein) (TRAP-1)

sequence:

opentargets:
membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; tumor necrosis factor receptor binding [GO:0005164]; unfolded protein binding [GO:0051082]; chaperone-mediated protein folding [GO:0061077]; negative regulation of cellular respiration [GO:1901856]; negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide [GO:1903751]; negative regulation of reactive oxygen species biosynthetic process [GO:1903427]; translational attenuation [GO:0009386]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12931-1; Sequence=Displayed; Name=2; IsoId=Q12931-2; Sequence=VSP_055061; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23564345}. Mitochondrion inner membrane {ECO:0000269|PubMed:23564345}. Mitochondrion matrix {ECO:0000269|PubMed:23564345}.


uniprotID: Q15628
geneSymbol: TRADD
pdb: 1F2H;1F3V;5XME;
length: 312
go: ENSG00000102871;
reactome:
R-HSA-140534;R-HSA-3371378;R-HSA-5213460;R-HSA-5218900;R-HSA-5357786;R-HSA-5357905;R-HSA-5357956;R-HSA-5675482;R-HSA-69416;R-HSA-75893;

name:
Tumor necrosis factor receptor type 1-associated DEATH domain protein (TNFR1-associated DEATH domain protein) (TNFRSF1A-associated via death domain)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; death-inducing signaling complex [GO:0031264]; membrane raft [GO:0045121]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; death domain binding [GO:0070513]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; molecular adaptor activity [GO:0060090]; protein-containing complex binding [GO:0044877]; tumor necrosis factor receptor binding [GO:0005164]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; death-inducing signaling complex assembly [GO:0071550]; extrinsic apoptotic signaling pathway [GO:0097191]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; positive regulation of apoptotic process [GO:0043065]; positive regulation of hair follicle development [GO:0051798]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein heterooligomerization [GO:0051291]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; signal transduction [GO:0007165]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15628-1; Sequence=Displayed; Name=2; IsoId=Q15628-2; Sequence=VSP_056526; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11684708}. Note=Shuttles between the cytoplasm and the nucleus. {ECO:0000250}.


uniprotID: Q92519
geneSymbol: TRIB2
name: Tribbles homolog 2 (TRB-2)
length: 343
go: ENSG00000071575;
snps: rs55813198
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; nucleus [GO:0005634]; mitogen-activated protein kinase kinase binding [GO:0031434]; protein kinase inhibitor activity [GO:0004860]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase regulator activity [GO:0055106]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of interleukin-10 biosynthetic process [GO:0045081]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; protein phosphorylation [GO:0006468]; regulation of MAP kinase activity [GO:0043405]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=May associate with the cytoskeleton. {ECO:0000250}.


uniprotID: O14717
geneSymbol: TRDMT1
reactome: R-HSA-6782315;
pdb: 1G55;
length: 391
go: ENSG00000107614;
drug: DB04077;DB00738;DB01752;
snps: rs11254413
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
tRNA (cytosine(38)-C(5))-methyltransferase (EC 2.1.1.204) (DNA (cytosine-5)-methyltransferase-like protein 2) (Dnmt2) (DNA methyltransferase homolog HsaIIP) (DNA MTase homolog HsaIIP) (M.HsaIIP) (PuMet)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; tRNA (cytosine-5-)-methyltransferase activity [GO:0016428]; tRNA methyltransferase activity [GO:0008175]; response to amphetamine [GO:0001975]; tRNA methylation [GO:0030488]; tRNA modification [GO:0006400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=A; IsoId=O14717-1; Sequence=Displayed; Name=B; IsoId=O14717-2; Sequence=VSP_005628; Name=C; IsoId=O14717-3; Sequence=VSP_005629; Name=D; IsoId=O14717-4; Sequence=VSP_005630, VSP_005631; Name=E; IsoId=O14717-5; Sequence=VSP_005632, VSP_005633; Name=F; IsoId=O14717-6; Sequence=VSP_005634, VSP_005635; 


uniprotID: Q8N814
name: Putative uncharacterized protein FLJ40140
length: 137
sequence:
MGWVIPEWPGAQSCPTAAQVAQPVPFMCNAPASPINDKEKDKAGGRLPSGSEPRARAFCEAGADGEQGDPSPADTIKANQGHIPAAPGETGSVICWCDQSVAPPRPAGLSVSGRQSYLVGCFRWVLTFFFSVFYLTP


uniprotID: Q71RG6
name: Putative chemokine-related protein FP248 (Protein N73)
length: 208
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: A8MV72
name: Putative UPF0607 protein ENSP00000382826
length: 311
sequence:


uniprotID: A8MXQ7
name: Putative IQ motif and ankyrin repeat domain-containing protein LOC642574
length: 604
snps: rs4875053
sequence:


uniprotID: Q6ZSV7
name: Putative uncharacterized protein FLJ45177
length: 163
sequence:
MAFGEPPSGHSTRHRTLHGLSFHTAMGMAWSLHYQGQGGTLCLVGVSTPSHDKAVLQGLPHFSVNLGVQPSALAGRRGDASCPSSWRSADPTVSPNLGAPGGPNAIDALHGEQLGLFLRTKMGRDPKDVHGLTPALCGPCLAGLPSSHSPQFSCNTAPLKMLS


uniprotID: Q6ZS52
name: Putative uncharacterized protein FLJ45825
length: 159
sequence:
MHQTHAIQRLEVLPSFSNESPTSRETSESWTNQDDIFYAYASMSPGAEHRGTTQLLRFQLAPIKKLEGSLQTHFLLSSLHPRMTFPGRAGGGEAGSRPPRRPWAGILILQLPSTRGGRRSGHGAVRSWGPWKVVAEQPVGGTDPPAHGGRGRPSPNENT


uniprotID: O95619
geneSymbol: YEATS4
reactome: R-HSA-3214847;R-HSA-8866907;
pdb: 5VNA;5VNB;5XTZ;5Y8V;
length: 227
go: ENSG00000127337;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00376, ECO:0000269|PubMed:10913114}.
name:
YEATS domain-containing protein 4 (Glioma-amplified sequence 41) (Gas41) (NuMA-binding protein 1) (NuBI-1) (NuBI1)

sequence:

opentargets:
NuA4 histone acetyltransferase complex [GO:0035267]; nuclear matrix [GO:0016363]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; Swr1 complex [GO:0000812]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; protein C-terminus binding [GO:0008022]; structural constituent of cytoskeleton [GO:0005200]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; mitotic cell cycle [GO:0000278]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of growth [GO:0040008]


uniprotID: A4D1N5
name: Putative uncharacterized protein FLJ40288
length: 150
sequence:
MSSRRSSLSPWKCPWFVYCFERPISREAGPVVHQSPTVLYLHSELAARQTQGRLLPREPAAEDLRLSLPGGHAALGLFKLQGKDSYPHPPTVLLGEDLSSSGWNSWVFGILNISRDEEAIGILTTILQLRETESSAVKWTHTKHSRELGP


uniprotID: A6NLC8
name: Putative TAF11-like protein ENSP00000332601
length: 198
sequence:
METGRQTGVSAEMFAMPRDLKGSKKDGIPEDLDGNLEEPRDQEGELRSEDVMDLTEGDNEASASAPPAAKRRKTDTKGKKERKPTVDAEEAQRMTTLLSAMSEEQLSRYEVCRRSAFPKACIAGLMRSITGRSVSENVAIAMAGIAKVFVGEVVEEALDVCEMWGEMPPLQPKHLREAVRRLKPKGLFPNSNYKKIMF

opentargets:
transcription factor TFIID complex [GO:0005669]; protein heterodimerization activity [GO:0046982]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; RNA polymerase II preinitiation complex assembly [GO:0051123]


uniprotID: Q6ZRP5
name: Putative uncharacterized protein FLJ46204
length: 223
snps: rs11944677
sequence:


uniprotID: Q8N1X5
name: Uncharacterized protein FLJ37310
length: 172
sequence:
MAAAGVTAKAGGGTSAAAASLIRARSPAWPRRAVSCSLARGTGAPKCGSDSTPPPPLPRRRSRARRGHLGNGDRPSAGATVGGEGQASQIGGGGGGGGGRRNATGRGRRRRQGGAGSAVKCRRDSVLEPGLASSPGVAPAGGSGGLWSGAGLCSGLGARGFPGGRRSGRDAG


uniprotID: Q6UWF5
name: Putative uncharacterized protein UNQ5815/PRO19632
length: 114
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MQIQNNLFFCCYTVMSAIFKWLLLYSLPALCFLLGTQESESFHSKAEILVTLSQVIISPAGPHALTWTTHFSPSVIIILVPCWWHAVIVTQHPVANCYVTNHLNIQWLELKAGS


uniprotID: Q2TAL6
geneSymbol: VWC2
name: Brorin (Brain-specific chordin-like protein) (von Willebrand factor C domain-containing protein 2)
length: 325
go: ENSG00000188730;
snps: rs769604
sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; basement membrane [GO:0005604]; cell junction [GO:0030054]; extracellular space [GO:0005615]; interstitial matrix [GO:0005614]; synapse [GO:0045202]; negative regulation of BMP signaling pathway [GO:0030514]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of neuron differentiation [GO:0045666]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250}. Cell junction, synapse {ECO:0000250}.


uniprotID: Q8NBF4
name: Putative uncharacterized protein FLJ33307
length: 154
sequence:
MQLLQVRTTNTLRRLPGTPLMPSAGAVRVVASVQSGHSWWRMWDGPTGAAEAGSCAEMLRTSAPGTSRPNLSFLLGQVIPLAHTGSVETLPSEESWGCRQRASPLPPSTAPMAVSASHRGGTGTRTWLVDPTLSRDTSPLGGQSWGSPQPSRGA


uniprotID: Q8N976
name: Putative uncharacterized protein FLJ38264
length: 141
sequence:
MISAHCSNLHFLGSSESPTLASQVGEITGTHHHTRLIFVFLVETGFHHVGHAGLELLTSSDPPTLASRSAGITGMSHRARPHGISRGEQVTLGLPLELLECVSWPLCGSPLRRAQIVSTPPSPLAALRVPVGAEGWGGTEQ


uniprotID: Q8IW50
geneSymbol: FAM219A
name: Protein FAM219A
length: 185
go: ENSG00000164970;
sequence:
MMEEIDRFQVPTAHSEMQPLDPAAASISDGDCDAREGESVAMNYKPSPLQVKLEKQRELARKGSLKNGSMGSPVNQQPKKNNVMARTRLVVPNKGYSSLDQSPDEKPLVALDTDSDDDFDMSRYSSSGYSSAEQINQDLNIQLLKDGYRLDEIPDDEDLDLIPPKSVNPTCMCCQATSSTACHIQ

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q8IW50-1; Sequence=Displayed; Name=2; IsoId=Q8IW50-2; Sequence=VSP_035492, VSP_035493; Name=3; IsoId=Q8IW50-3; Sequence=VSP_035492, VSP_035493, VSP_035496; Name=4; IsoId=Q8IW50-4; Sequence=VSP_035492, VSP_035496; Name=5; IsoId=Q8IW50-5; Sequence=VSP_035493, VSP_035496; Name=6; IsoId=Q8IW50-6; Sequence=VSP_035493; Name=7; IsoId=Q8IW50-7; Sequence=VSP_035494, VSP_035495; 


uniprotID: Q7Z5A8
geneSymbol: FAM19A3
name: Protein FAM19A3 (Chemokine-like protein TAFA-3)
length: 133
go: ENSG00000184599;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15028294, ECO:0000269|PubMed:25595455}.
sequence:
MSERVERNWSTGGWLLALCLAWLWTHLTLAALQPPTATVLVQQGTCEVIAAHRCCNRNRIEERSQTVKCSCFSGQVAGTTRAKPSCVDASIVLQRWWCQMEPCLPGEECKVLPDLSGWSCSSGHKVKTTKVTR

opentargets:
extracellular space [GO:0005615]; negative regulation of microglial cell activation [GO:1903979]; positive regulation of microglial cell activation [GO:1903980]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=TAFA3; IsoId=Q7Z5A8-1; Sequence=Displayed; Name=2; Synonyms=TAFA3.2; IsoId=Q7Z5A8-2; Sequence=VSP_016067; 


uniprotID: P57679
geneSymbol: EVC
reactome: R-HSA-5632684;R-HSA-5635838;
name: Ellis-van Creveld syndrome protein (DWF-1)
length: 992
go: ENSG00000072840;
sequence:

opentargets:
ciliary basal body [GO:0036064]; ciliary membrane [GO:0060170]; cilium [GO:0005929]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane protein complex [GO:0098797]; cartilage development [GO:0051216]; endochondral bone growth [GO:0003416]; muscle organ development [GO:0007517]; positive regulation of smoothened signaling pathway [GO:0045880]; skeletal system development [GO:0001501]; smoothened signaling pathway [GO:0007224]

snps:
rs2291157 rs16837598 rs1017946059 rs6414624 rs121908426 rs28483498 rs183114391 rs35953626 rs2302075 rs1383180 rs2279252 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P57680}; Single-pass membrane protein {ECO:0000250|UniProtKB:P57680}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:P57680}. Cell projection, cilium {ECO:0000250|UniProtKB:P57680}. Cell projection, cilium membrane {ECO:0000250|UniProtKB:P57680}. Note=EVC2 is required for the localization of EVC at the base of primary cilia. The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250|UniProtKB:P57680}.


uniprotID: Q6ZT52
geneSymbol: FAM43B
name: Protein FAM43B
length: 329
go: ENSG00000183114;
sequence:


uniprotID: Q06265
geneSymbol: EXOSC9
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: 439
go: ENSG00000123737;
snps: rs1803183 rs1051881
name:
Exosome complex component RRP45 (Autoantigen PM/Scl 1) (Exosome component 9) (P75 polymyositis-scleroderma overlap syndrome-associated autoantigen) (Polymyositis/scleroderma autoantigen 1) (Polymyositis/scleroderma autoantigen 75 kDa) (PM/Scl-75)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic exosome (RNase complex) [GO:0000177]; cytosol [GO:0005829]; exosome (RNase complex) [GO:0000178]; extracellular exosome [GO:0070062]; nuclear chromosome [GO:0000228]; nuclear exosome (RNase complex) [GO:0000176]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 3'-5'-exoribonuclease activity [GO:0000175]; AU-rich element binding [GO:0017091]; RNA binding [GO:0003723]; RNA polymerase II activating transcription factor binding [GO:0001102]; 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]; immune response [GO:0006955]; 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 [GO:0000956]; nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' [GO:0034427]; positive regulation of cell growth [GO:0030307]; positive regulation of transcription by RNA polymerase II [GO:0045944]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=PM/SCL-75c-alpha; IsoId=Q06265-1; Sequence=Displayed; Name=2; Synonyms=PM/SCL-75c-beta; IsoId=Q06265-2; Sequence=VSP_025556; Name=3; Synonyms=PM/SCL-75a-alpha; IsoId=Q06265-3; Sequence=VSP_025555; Name=4; Synonyms=PM/SCL-75a-beta; IsoId=Q06265-4; Sequence=VSP_025555, VSP_025556; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000269|PubMed:24105744}. Nucleus, nucleolus {ECO:0000269|PubMed:24105744}. Nucleus, nucleoplasm {ECO:0000269|PubMed:24105744}. Note=Colocalizes with SETX in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). {ECO:0000269|PubMed:24105744}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus.; SUBCELLULAR LOCATION: Isoform 2: Nucleus, nucleolus.; SUBCELLULAR LOCATION: Isoform 3: Nucleus. Note=Excluded from the nucleolus.


uniprotID: Q9H0Q0
geneSymbol: FAM49A
name: Protein FAM49A
length: 323
go: ENSG00000197872;
opentargets: intracellular [GO:0005622]
sequence:


uniprotID: Q9NVL1
geneSymbol: FAM86C1
name: Protein FAM86C1 (EC 2.1.1.-) (Protein FAM86C)
length: 165
go: ENSG00000158483;
opentargets: protein-containing complex [GO:0032991]; methyltransferase activity [GO:0008168]
snps: rs12283300 rs12283346 rs3935309 rs57679800
sequence:
MAPEENAGSELLLQSFKRRFLAARALRSFRWQSLEAKLRDSSDSELLRDILQKHEAVHTEPLDELYEVLVETLMAKESTQGHRSYLLTCCIAQKPSCRWSGSCGGWLPAGSTSGLLNSTWPLPSATQRCASCSPPSYAGLGSDGKRKLIMTRNCFPTESTWRWQS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NVL1-1; Sequence=Displayed; Name=2; IsoId=Q9NVL1-2; Sequence=VSP_028752; Name=3; IsoId=Q9NVL1-3; Sequence=VSP_042069; 


uniprotID: Q01469
geneSymbol: FABP5
reactome: R-HSA-163560;R-HSA-5362517;R-HSA-6798695;
pdb: 1B56;1JJJ;4AZM;4AZR;4LKP;4LKT;5HZ5;5UR9;
length: 135
go: ENSG00000164687;
drug: DB03796;
name:
Fatty acid-binding protein 5 (Epidermal-type fatty acid-binding protein) (E-FABP) (Fatty acid-binding protein, epidermal) (Psoriasis-associated fatty acid-binding protein homolog) (PA-FABP)

sequence:
MATVQQLEGRWRLVDSKGFDEYMKELGVGIALRKMGAMAKPDCIITCDGKNLTIKTESTLKTTQFSCTLGEKFEETTADGRKTQTVCNFTDGALVQHQEWDGKESTITRKLKDGKLVVECVMNNVTCTRIYEKVE

opentargets:
azurophil granule lumen [GO:0035578]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; secretory granule membrane [GO:0030667]; synapse [GO:0045202]; fatty acid binding [GO:0005504]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; retinoic acid binding [GO:0001972]; epidermis development [GO:0008544]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; lipid metabolic process [GO:0006629]; negative regulation of glucose transmembrane transport [GO:0010829]; neutrophil degranulation [GO:0043312]; phosphatidylcholine biosynthetic process [GO:0006656]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035360]; regulation of prostaglandin biosynthetic process [GO:0031392]; regulation of retrograde trans-synaptic signaling by endocanabinoid [GO:0099178]; regulation of sensory perception of pain [GO:0051930]; triglyceride catabolic process [GO:0019433]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24692551, ECO:0000269|PubMed:8092987}. Nucleus {ECO:0000269|PubMed:24692551}. Cell junction, synapse {ECO:0000250|UniProtKB:Q05816}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q05816}. Secreted {ECO:0000250|UniProtKB:Q05816}. Note=Localizes primarily to the cytoplasm. Upon certain ligand binding, a conformation change exposes a nuclear localization motif and the protein is transported into nucleus (PubMed:24692551). Secreted by astrocytes, but not by neurons (By similarity). {ECO:0000250|UniProtKB:Q05816, ECO:0000269|PubMed:24692551}.


uniprotID: Q9UK73
geneSymbol: FEM1B
reactome: R-HSA-8951664;
length: 627
go: ENSG00000169018;
name:
Protein fem-1 homolog B (FEM1b) (FEM1-beta) (Fem-1-like death receptor-binding protein alpha) (Fem-1-like in apoptotic pathway protein alpha) (F1A-alpha)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; death receptor binding [GO:0005123]; ubiquitin-protein transferase activity [GO:0004842]; apoptotic process [GO:0006915]; branching involved in prostate gland morphogenesis [GO:0060442]; epithelial cell maturation involved in prostate gland development [GO:0060743]; post-translational protein modification [GO:0043687]; regulation of DNA damage checkpoint [GO:2000001]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; regulation of ubiquitin-protein transferase activity [GO:0051438]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19330022}. Nucleus {ECO:0000269|PubMed:19330022}. Note=In the nucleus, the protein level increased slightly after camptothecin (CPT) treatment. Associated with chromatin.


uniprotID: Q96RJ6
geneSymbol: FERD3L
length: 166
go: ENSG00000146618;
snps: rs775679607
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Fer3-like protein (Basic helix-loop-helix protein N-twist) (Class A basic helix-loop-helix protein 31) (bHLHa31) (Nephew of atonal 3) (Neuronal twist)

sequence:
MAAYPESCVDTTVLDFVADLSLASPRRPLLCDFAPGVSLGDPALALREGRPRRMARFEEGDPEEEECEVDQGDGEEEEEEERGRGVSLLGRPKRKRVITYAQRQAANIRERKRMFNLNEAFDQLRRKVPTFAYEKRLSRIETLRLAIVYISFMTELLESCEKKESG

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell development [GO:0048468]; floor plate development [GO:0033504]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of neurogenesis [GO:0050767]


uniprotID: Q99689
geneSymbol: FEZ1
name: Fasciculation and elongation protein zeta-1 (Zygin I) (Zygin-1)
length: 392
go: ENSG00000149557;
snps: rs597570
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; plasma membrane [GO:0005886]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; negative regulation of autophagosome assembly [GO:1902902]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q99689-1; Sequence=Displayed; Name=Short; Synonyms=FEZ1-T; IsoId=Q99689-2; Sequence=VSP_006951; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18439996}. Cell membrane {ECO:0000250}. Note=Colocalizes with both, alpha- and gamma-tubulin. Translocated from the plasma membrane to the cytoplasm by activation of the PKC zeta (By similarity). {ECO:0000250}.


uniprotID: Q9H479
geneSymbol: FN3K
reactome: R-HSA-163841;
name: Fructosamine-3-kinase (EC 2.7.1.-)
length: 309
go: ENSG00000167363;
sequence:

opentargets:
cytosol [GO:0005829]; fructosamine-3-kinase activity [GO:0030387]; kinase activity [GO:0016301]; epithelial cell differentiation [GO:0030855]; fructosamine metabolic process [GO:0030389]; fructoselysine metabolic process [GO:0030393]; post-translational protein modification [GO:0043687]


uniprotID: Q8N3X1
geneSymbol: FNBP4
name: Formin-binding protein 4 (Formin-binding protein 30)
length: 1017
go: ENSG00000109920;
opentargets: nuclear speck [GO:0016607]
snps: rs34962598 rs780064080 rs35040940
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N3X1-1; Sequence=Displayed; Name=2; IsoId=Q8N3X1-2; Sequence=VSP_040292; 


uniprotID: Q5H8C1
geneSymbol: FREM1
name: FRAS1-related extracellular matrix protein 1 (Protein QBRICK)
length: 2179
go: ENSG00000164946;
sequence:

opentargets:
basement membrane [GO:0005604]; integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; cell communication [GO:0007154]; cell-matrix adhesion [GO:0007160]; craniofacial suture morphogenesis [GO:0097094]

snps:
rs2779500 rs184394424 rs1353223 rs121912609 rs7023244 rs7041710 rs16932300 rs7025814 rs281875281 rs121912610 rs281875280 rs10961700 rs2101770 rs281875282 rs10961689 rs17856912 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5H8C1-1; Sequence=Displayed; Name=2; IsoId=Q5H8C1-2; Sequence=VSP_047283, VSP_047284; Note=No experimental confirmation available.; Name=3; IsoId=Q5H8C1-3; Sequence=VSP_015025; Note=No experimental confirmation available.; Name=4; IsoId=Q5H8C1-4; Sequence=VSP_015026, VSP_015029, VSP_015030, VSP_015031; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250}. Note=Localizes at the basement membrane zone of embryonic epidermis and hair follicles. {ECO:0000250}.


uniprotID: A6PVY3
geneSymbol: FAM177B
name: Protein FAM177B
length: 158
go: ENSG00000197520;
snps: rs2378607 rs6683071
sequence:
MEIDGFQQLDLEKSVPSKKTTPKRIIHFVDGDIMEEYSTEEEEEEEKEEQSTNSTLDPSKLSWGPYLRFWAGRIASTSFSTCEFLGGRFAVFFGLTQPKYQYVLNEFYRIQNKKSDNKSERRGSKAQAAEVPNEKCHLEAGVQEYGTIQQDVTEAIPQ

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6PVY3-1; Sequence=Displayed; Name=2; IsoId=A6PVY3-2; Sequence=VSP_032476, VSP_032477; Note=No experimental confirmation available.; 


uniprotID: Q6UWF9
geneSymbol: FAM180A
name: Protein FAM180A
length: 173
go: ENSG00000189320;
opentargets: extracellular region [GO:0005576]
snps: rs3112374
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MHWKMLLLLLLYYNAEASMCHRWSRAVLFPAAHRPKRSSSLPLNPVLQTSLEEVELLYEFLLAELEISPDLQISIKDEELASLRKASDFRTVCNNVIPKSIPDIRRLSASLSSHPGILKKEDFERTVLTLAYTAYRTALSHGHQKDIWAQSLVSLFQALRHDLMRSSQPGVPP


uniprotID: P0C875
geneSymbol: FAM228B
name: Protein FAM228B
length: 324
go: ENSG00000219626;
sequence:


uniprotID: Q5T0W9
geneSymbol: FAM83B
pdb: 5LZK;
name: Protein FAM83B
length: 1011
go: ENSG00000168143;
snps: rs13211183 rs9475076 rs239798 rs9475077
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; epidermal growth factor receptor binding [GO:0005154]; phosphatidylinositol 3-kinase catalytic subunit binding [GO:0036313]; 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]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22886302}. Membrane {ECO:0000269|PubMed:22886302}.


uniprotID: P02765
geneSymbol: AHSG
reactome: R-HSA-114608;R-HSA-381426;R-HSA-6798695;R-HSA-8957275;
length: 367
go: ENSG00000145192;
snps: rs7633550 rs4917 rs4918 rs70961709 rs35457250
location: SUBCELLULAR LOCATION: Secreted.
name:
Alpha-2-HS-glycoprotein (Alpha-2-Z-globulin) (Ba-alpha-2-glycoprotein) (Fetuin-A) [Cleaved into: Alpha-2-HS-glycoprotein chain A; Alpha-2-HS-glycoprotein chain B]

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; platelet alpha granule lumen [GO:0031093]; secretory granule lumen [GO:0034774]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; kinase inhibitor activity [GO:0019210]; acute-phase response [GO:0006953]; cellular protein metabolic process [GO:0044267]; negative regulation of bone mineralization [GO:0030502]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of insulin receptor signaling pathway [GO:0046627]; neutrophil degranulation [GO:0043312]; ossification [GO:0001503]; pinocytosis [GO:0006907]; platelet degranulation [GO:0002576]; positive regulation of phagocytosis [GO:0050766]; post-translational protein modification [GO:0043687]; regulation of bone mineralization [GO:0030500]; regulation of inflammatory response [GO:0050727]; skeletal system development [GO:0001501]


uniprotID: O14842
geneSymbol: FFAR1
reactome: R-HSA-381771;R-HSA-400511;R-HSA-416476;R-HSA-434316;R-HSA-444209;
pdb: 4PHU;5TZR;5TZY;
name: Free fatty acid receptor 1 (G-protein coupled receptor 40)
length: 300
go: ENSG00000126266;
drug: DB00159;
snps: rs2301151
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; bioactive lipid receptor activity [GO:0045125]; G protein-coupled receptor activity [GO:0004930]; guanyl-nucleotide exchange factor activity [GO:0005085]; lipid binding [GO:0008289]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose homeostasis [GO:0042593]; insulin secretion [GO:0030073]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of insulin secretion [GO:0032024]; response to fatty acid [GO:0070542]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17699519, ECO:0000269|PubMed:25043059}; Multi-pass membrane protein {ECO:0000269|PubMed:25043059}.


uniprotID: Q5TD97
geneSymbol: FHL5
pdb: 1X68;
length: 284
go: ENSG00000112214;
snps: rs35157931 rs2273621 rs2252816 rs9373985
name:
Four and a half LIM domains protein 5 (FHL-5) (Activator of cAMP-responsive element modulator in testis) (Activator of CREM in testis)

sequence:

opentargets:
nucleus [GO:0005634]; Z disc [GO:0030018]; metal ion binding [GO:0046872]; transcription coactivator activity [GO:0003713]; positive regulation of transcription by RNA polymerase II [GO:0045944]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11327716}. Note=Nuclei of round and elongated spermatids.


uniprotID: Q9Y3D6
geneSymbol: FIS1
pdb: 1NZN;1PC2;
length: 152
go: ENSG00000214253;
name:
Mitochondrial fission 1 protein (FIS1 homolog) (hFis1) (Tetratricopeptide repeat protein 11) (TPR repeat protein 11)

sequence:
MEAVLNELVSVEDLLKFEKKFQSEKAAGSVSKSTQFEYAWCLVRSKYNDDIRKGIVLLEELLPKGSKEEQRDYVFYLAVGNYRLKEYEKALKYVRGLLQTEPQNNQAKELERLIDKAMKKDGLVGMAIVGGMALGVAGLAGLIGLAVSKSKS

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of mitochondrial outer membrane [GO:0031307]; integral component of peroxisomal membrane [GO:0005779]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; peroxisome [GO:0005777]; protein-containing complex [GO:0032991]; protein-containing complex binding [GO:0044877]; signaling receptor binding [GO:0005102]; apoptotic process [GO:0006915]; autophagy of mitochondrion [GO:0000422]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cellular response to glucose stimulus [GO:0071333]; cellular response to peptide [GO:1901653]; cellular response to thapsigargin [GO:1904579]; cellular response to toxic substance [GO:0097237]; mitochondrial fission [GO:0000266]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; mitochondrial fusion [GO:0008053]; mitochondrion morphogenesis [GO:0070584]; negative regulation of endoplasmic reticulum calcium ion concentration [GO:0032471]; peroxisome fission [GO:0016559]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of protein targeting to membrane [GO:0090314]; protein homooligomerization [GO:0051260]; protein targeting to mitochondrion [GO:0006626]; regulation of mitochondrion organization [GO:0010821]; release of cytochrome c from mitochondria [GO:0001836]; response to flavonoid [GO:1905395]; response to fluoride [GO:1902617]; response to hypobaric hypoxia [GO:1990910]; response to muscle activity [GO:0014850]; response to nutrient levels [GO:0031667]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Single-pass membrane protein. Peroxisome membrane; Single-pass membrane protein.


uniprotID: Q96SL8
geneSymbol: FIZ1
name: Flt3-interacting zinc finger protein 1 (Zinc finger protein 798)
length: 496
go: ENSG00000179943;
snps: rs7247236
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; receptor tyrosine kinase binding [GO:0030971]; positive regulation of protein phosphorylation [GO:0001934]


uniprotID: A1L4K1
geneSymbol: FSD2
name: Fibronectin type III and SPRY domain-containing protein 2 (SPRY domain-containing protein 1)
length: 749
go: ENSG00000186628;
snps: rs4779061 rs1108134
sequence:

opentargets:
nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; sarcoplasmic reticulum [GO:0016529]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A1L4K1-1; Sequence=Displayed; Name=2; IsoId=A1L4K1-2; Sequence=VSP_054600; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:H0UZ81}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:H0UZ81}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:H0UZ81}. Note=In skeletal muscles and striated muscles flanks Z-disks. Partially colocalizes with RYR2 in the sarcoplasmic reticulum. {ECO:0000250|UniProtKB:H0UZ81}.


uniprotID: Q53EP0
geneSymbol: FNDC3B
length: 1204
go: ENSG00000075420;
opentargets: integral component of membrane [GO:0016021]; RNA binding [GO:0003723]
snps: rs7652177 rs2276806
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
name:
Fibronectin type III domain-containing protein 3B (Factor for adipocyte differentiation 104) (HCV NS5A-binding protein 37)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q53EP0-1; Sequence=Displayed; Name=2; IsoId=Q53EP0-2; Sequence=VSP_024741, VSP_024742; Note=No experimental confirmation available.; Name=3; IsoId=Q53EP0-3; Sequence=VSP_024739, VSP_024740; Note=No experimental confirmation available.; 


uniprotID: Q9H6D8
geneSymbol: FNDC4
name: Fibronectin type III domain-containing protein 4 (Fibronectin type III repeat-containing protein 1)
length: 234
go: ENSG00000115226;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; negative regulation of inflammatory response [GO:0050728]; response to transforming growth factor beta [GO:0071559]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Secreted {ECO:0000250|UniProtKB:Q3TR08}. Note=The N-terminus is probably cleaved to release a secreted extracellular portion of the protein. {ECO:0000250|UniProtKB:Q3TR08}.


uniprotID: Q5T319
geneSymbol: FAM182B
name: Protein FAM182B
length: 152
go: ENSG00000175170;
sequence:
MQEMVRELWMWNVEEEEHEVGICTWGGQHCGCPAKSLPGPHPGGVSAPQSASQLMVKLLVWQKSVHKLRKVSATSSIAVYPCPGQSSGGAESPAPGPGLAGWSHLCGAALAEVQAAPVSQAAVSDASLGPEWSQEGCRPGLTSGQHGGRDGR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T319-1; Sequence=Displayed; Name=2; IsoId=Q5T319-2; Sequence=VSP_034850, VSP_034851; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P16118
geneSymbol: PFKFB1
reactome: R-HSA-163358;R-HSA-163767;R-HSA-70171;
pdb: 1K6M;
length: 471
go: ENSG00000158571;
drug: DB02515;DB04493;DB04137;DB02930;
name:
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 (6PF-2-K/Fru-2,6-P2ase 1) (PFK/FBPase 1) (6PF-2-K/Fru-2,6-P2ase liver isozyme) [Includes: 6-phosphofructo-2-kinase (EC 2.7.1.105); Fructose-2,6-bisphosphatase (EC 3.1.3.46)]

sequence:

opentargets:
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex [GO:0043540]; cytosol [GO:0005829]; 6-phosphofructo-2-kinase activity [GO:0003873]; ATP binding [GO:0005524]; fructose-2,6-bisphosphate 2-phosphatase activity [GO:0004331]; fructose-6-phosphate binding [GO:0070095]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; animal organ regeneration [GO:0031100]; fructose 2,6-bisphosphate metabolic process [GO:0006003]; fructose metabolic process [GO:0006000]; gluconeogenesis [GO:0006094]; glycolytic process [GO:0006096]; negative regulation of glycolytic process [GO:0045820]; positive regulation of glucokinase activity [GO:0033133]; positive regulation of glycolytic process [GO:0045821]; response to cAMP [GO:0051591]; response to glucagon [GO:0033762]; response to glucocorticoid [GO:0051384]; response to insulin [GO:0032868]; response to starvation [GO:0042594]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P16118-1; Sequence=Displayed; Name=2; IsoId=P16118-2; Sequence=VSP_054795; 


uniprotID: Q9NZY2
geneSymbol: FAM30A
name: Putative uncharacterized protein FAM30A
length: 134
sequence:
MGTLQGAALRSRERPSWPQETHGHRERTEEGCAVAAFSADALRTGGQELEQTGLRPKAGAPPMPDLLGHRICTDIGKGWRMDGGRTCSCSSFCRCPERGARRSSPDAPGLALDFPLLLDLLWHLCSWTSQPLEL


uniprotID: P03951
geneSymbol: F11
reactome: R-HSA-140837;
length: 625
go: ENSG00000088926;
drug: DB07022;DB07299;DB07074;DB06404;DB09228;DB00100;DB07212;
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1XX9;1XXD;1XXF;1ZHM;1ZHP;1ZHR;1ZJD;1ZLR;1ZMJ;1ZML;1ZMN;1ZOM;1ZPB;1ZPC;1ZPZ;1ZRK;1ZSJ;1ZSK;1ZSL;1ZTJ;1ZTK;1ZTL;2F83;2FDA;2J8J;2J8L;3BG8;3SOR;3SOS;4CR5;4CR9;4CRA;4CRB;4CRC;4CRD;4CRE;4CRF;4CRG;4D76;4D7F;4D7G;4NA7;4NA8;4TY6;4TY7;4WXI;4X6M;4X6N;4X6O;4X6P;4Y8X;4Y8Y;4Y8Z;5E2O;5E2P;5EOD;5EOK;5EXL;5EXM;5EXN;5I25;5Q0D;5Q0E;5Q0F;5Q0G;5Q0H;5QCK;5QCL;5QCM;5QCN;5TKS;5TKT;5TKU;5WB6;6AOD;6C0S;

name:
Coagulation factor XI (FXI) (EC 3.4.21.27) (Plasma thromboplastin antecedent) (PTA) [Cleaved into: Coagulation factor XIa heavy chain; Coagulation factor XIa light chain]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; plasma membrane [GO:0005886]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; serine-type aminopeptidase activity [GO:0070009]; serine-type endopeptidase activity [GO:0004252]; blood coagulation [GO:0007596]; blood coagulation, intrinsic pathway [GO:0007597]; plasminogen activation [GO:0031639]; positive regulation of fibrinolysis [GO:0051919]

snps:
rs281875259 rs281875267 rs281875264 rs281875271 rs281875252 rs281875243 rs281875261 rs121965069 rs281875244 rs5968 rs281875272 rs768474112 rs281875256 rs281875273 rs281875245 rs281875246 rs281875265 rs5969 rs281875279 rs281875260 rs281875277 rs281875274 rs145168351 rs121965070 rs281875247 rs281875248 rs121965064 rs5972 rs281875257 rs281875268 rs281875269 rs28934608 rs281875253 rs5967 rs281875270 rs281875254 rs1800439 rs281875262 rs281875266 rs121965067 rs121965071 rs121965068 rs281875241 rs121965065 rs281875242 rs140068026 rs281875258 rs281875278 rs281875249 rs281875263 rs139695003 rs142952627 rs369935706 rs281875275 rs281875250 rs121965072 rs28934609 rs281875251 rs281875255 rs281875276 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P03951-1; Sequence=Displayed; Name=2; Synonyms=Platelet; IsoId=P03951-2; Sequence=VSP_005388; 


uniprotID: Q658T7
geneSymbol: FAM90A2P
name: Putative protein FAM90A2P
length: 463
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q658T7-1; Sequence=Displayed; Name=2; IsoId=Q658T7-2; Sequence=VSP_034714; Note=No experimental confirmation available.; 


uniprotID: Q14320
geneSymbol: FAM50A
name: Protein FAM50A (Protein HXC-26) (Protein XAP-5)
length: 339
go: ENSG00000071859;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; spermatogenesis [GO:0007283]


uniprotID: Q6P3S6
geneSymbol: FBXO42
name: F-box only protein 42 (Just one F-box and Kelch domain-containing protein)
length: 717
go: ENSG00000037637;
snps: rs12069239
sequence:


uniprotID: O15552
geneSymbol: FFAR2
reactome: R-HSA-416476;R-HSA-444209;
name: Free fatty acid receptor 2 (G-protein coupled receptor 43)
length: 330
go: ENSG00000126262;
snps: rs409093
sequence:

opentargets:
cell projection [GO:0042995]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; lipid binding [GO:0008289]; cell surface pattern recognition receptor signaling pathway [GO:0002752]; cellular response to fatty acid [GO:0071398]; fat cell differentiation [GO:0045444]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose homeostasis [GO:0042593]; leukocyte chemotaxis involved in inflammatory response [GO:0002232]; lipid storage [GO:0019915]; mucosal immune response [GO:0002385]; positive regulation of acute inflammatory response to non-antigenic stimulus [GO:0002879]; positive regulation of chemokine production [GO:0032722]; positive regulation of cytokine production involved in immune response [GO:0002720]; positive regulation of interleukin-8 secretion [GO:2000484]; regulation of acute inflammatory response [GO:0002673]; regulation of peptide hormone secretion [GO:0090276]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18801738}; Multi-pass membrane protein {ECO:0000269|PubMed:18801738}.


uniprotID: B1AJZ9
geneSymbol: FHAD1
name: Forkhead-associated domain-containing protein 1 (FHA domain-containing protein 1)
length: 1412
go: ENSG00000142621;
snps: rs12126178
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=B1AJZ9-1; Sequence=Displayed; Name=3; IsoId=B1AJZ9-3; Sequence=VSP_035369; Note=No experimental confirmation available.; Name=4; IsoId=B1AJZ9-4; Sequence=VSP_035366; Note=No experimental confirmation available.; 


uniprotID: Q9Y613
geneSymbol: FHOD1
pdb: 3DAD;
length: 1164
go: ENSG00000135723;
name:
FH1/FH2 domain-containing protein 1 (Formin homolog overexpressed in spleen 1) (FHOS) (Formin homology 2 domain-containing protein 1)

sequence:

opentargets:
bleb [GO:0032059]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; intercalated disc [GO:0014704]; membrane [GO:0016020]; nucleus [GO:0005634]; actin binding [GO:0003779]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; protein self-association [GO:0043621]; establishment of centrosome localization [GO:0051660]; nuclear migration [GO:0007097]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of stress fiber assembly [GO:0051492]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, bleb. Note=Predominantly cytoplasmic.


uniprotID: Q4ZHG4
geneSymbol: FNDC1
length: 1894
go: ENSG00000164694;
opentargets: extracellular region [GO:0005576]; nuclear speck [GO:0016607]
snps: rs509648 rs420137 rs370434 rs420054 rs3003174 rs2501176 rs3842694 rs386360 rs7763726
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Fibronectin type III domain-containing protein 1 (Activation-associated cDNA protein) (Expressed in synovial lining protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4ZHG4-1; Sequence=Displayed; Name=2; IsoId=Q4ZHG4-2; Sequence=VSP_024663; Note=No experimental confirmation available.; 


uniprotID: Q14CM0
geneSymbol: FRMPD4
pdb: 4WND;4WNE;4WNF;4WNG;
length: 1322
go: ENSG00000169933;
snps: rs886038209
location: SUBCELLULAR LOCATION: Cell projection, dendritic spine {ECO:0000269|PubMed:19118189}.
name:
FERM and PDZ domain-containing protein 4 (PDZ domain-containing protein 10) (PSD-95-interacting regulator of spine morphogenesis) (Preso)

sequence:

opentargets:
cytoskeleton [GO:0005856]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; postsynaptic density [GO:0014069]; protein-containing complex [GO:0032991]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; positive regulation of synapse structural plasticity [GO:0051835]; postsynaptic actin cytoskeleton organization [GO:0098974]


uniprotID: Q8TBP5
geneSymbol: FAM174A
length: 190
go: ENSG00000174132;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Membrane protein FAM174A (Hepatitis C virus NS5A-transactivated protein 6) (HCV NS5A-transactivated protein 6) (Transmembrane protein 157)

sequence:
MKASQCCCCLSHLLASVLLLLLLPELSGPLAVLLQAAEAAPGLGPPDPRPRTLPPLPPGPTPAQQPGRGLAEAAGPRGSEGGNGSNPVAGLETDDHGGKAGEGSVGGGLAVSPNPGDKPMTQRALTVLMVVSGAVLVYFVVRTVRMRRRNRKTRRYGVLDTNIENMELTPLEQDDEDDDNTLFDANHPRR


uniprotID: Q5VWN6
geneSymbol: FAM208B
name: Protein FAM208B
length: 2430
go: ENSG00000108021;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]
sequence:

snps:
rs2254067 rs4748636 rs56856085 rs45575338 rs2797491 rs3814196 rs17143175 rs2669142 rs11593253 rs2275774 rs2797501 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VWN6-1; Sequence=Displayed; Name=2; IsoId=Q5VWN6-2; Sequence=VSP_027733; 


uniprotID: Q86V42
geneSymbol: FAM124A
name: Protein FAM124A
length: 546
go: ENSG00000150510;
snps: rs17075482
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86V42-1; Sequence=Displayed; Name=2; IsoId=Q86V42-2; Sequence=VSP_025039; Note=No experimental confirmation available.; Name=3; IsoId=Q86V42-3; Sequence=VSP_025040, VSP_025041; 


uniprotID: Q8NHP7
geneSymbol: EXD1
length: 514
go: ENSG00000178997;
snps: rs522063
name:
piRNA biogenesis protein EXD1 (Exonuclease 3'-5' domain-containing protein 1) (Exonuclease 3'-5' domain-like-containing protein 1) (Inactive exonuclease EXD1)

sequence:

opentargets:
P granule [GO:0043186]; PET complex [GO:1990923]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; gene silencing by RNA [GO:0031047]; meiotic cell cycle [GO:0051321]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; piRNA metabolic process [GO:0034587]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NHP7-1; Sequence=Displayed; Name=2; IsoId=Q8NHP7-2; Sequence=VSP_033987; Note=No experimental confirmation available.; Name=3; IsoId=Q8NHP7-3; Sequence=VSP_054898; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:H9IUR0}. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. {ECO:0000250|UniProtKB:H9IUR0}.


uniprotID: A6NMN3
geneSymbol: FAM170B
name: Protein FAM170B (Acrosome-related protein)
length: 283
snps: rs17773851
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; outer acrosomal membrane [GO:0002081]; positive regulation of acrosome reaction [GO:2000344]; regulation of fertilization [GO:0080154]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:26179146}. Cytoplasmic vesicle, secretory vesicle, acrosome outer membrane {ECO:0000250|UniProtKB:E9PXT9}.


uniprotID: Q92567
geneSymbol: FAM168A
name: Protein FAM168A (Tongue cancer chemotherapy resistance-associated protein 1)
length: 244
go: ENSG00000054965;
opentargets: positive regulation of base-excision repair [GO:1905053]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92567-1; Sequence=Displayed; Name=2; IsoId=Q92567-2; Sequence=VSP_010095; Name=3; IsoId=Q92567-3; Sequence=VSP_010095, VSP_034630; 


uniprotID: P22794
geneSymbol: EVI2A
name: Protein EVI2A (Ecotropic viral integration site 2A protein homolog) (EVI-2A)
length: 236
go: ENSG00000126860;
opentargets: integral component of membrane [GO:0016021]; transmembrane signaling receptor activity [GO:0004888]
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22794-1; Sequence=Displayed; Name=2; IsoId=P22794-2; Sequence=VSP_038859; Note=No experimental confirmation available.; 


uniprotID: Q8IYM0
geneSymbol: FAM186B
name: Protein FAM186B
length: 893
go: ENSG00000135436;
opentargets: protein-containing complex [GO:0032991]
snps: rs17853450 rs12299908
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYM0-1; Sequence=Displayed; Name=2; IsoId=Q8IYM0-2; Sequence=VSP_056992, VSP_056993; Note=No experimental confirmation available.; 


uniprotID: Q8NA97
geneSymbol: FER1L6-AS1
length: 138
name:
Putative uncharacterized protein FER1L6-AS1 (FER1L6 antisense RNA 1) (FER1L6 antisense gene protein 1)

sequence:
MDILPYLHMSHGKCPLLVRGKGEMEGEALLSCLAMNSLGEQEACLDLGSKTPSLEISSNNQERPTNREETGIICPERLFIYSSKDSSKRLPGGLCIKNKTTCVPVQLHPSSFPKCQEAIVSPQARVKLLNKIKMDTAL


uniprotID: Q8TBJ5
geneSymbol: FEZF2
length: 459
go: ENSG00000153266;
snps: rs17852031 rs199850439 rs17852032
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Fez family zinc finger protein 2 (Forebrain embryonic zinc finger-like protein 2) (Zinc finger protein 312) (Zinc finger protein Fez-like)

sequence:

opentargets:
nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; 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]; axon guidance [GO:0007411]; axonal fasciculation [GO:0007413]; cell dedifferentiation [GO:0043697]; cerebral cortex GABAergic interneuron migration [GO:0021853]; commitment of neuronal cell to specific neuron type in forebrain [GO:0021902]; dendrite development [GO:0016358]; dentate gyrus development [GO:0021542]; forebrain anterior/posterior pattern specification [GO:0021797]; locomotory behavior [GO:0007626]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron differentiation [GO:0045665]; neuron fate determination [GO:0048664]; positive regulation of neuron differentiation [GO:0045666]; regulation of axon guidance [GO:1902667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBJ5-1; Sequence=Displayed; Name=2; IsoId=Q8TBJ5-2; Sequence=VSP_026734, VSP_026735; Note=No experimental confirmation available.; 


uniprotID: Q9BXU8
geneSymbol: FTHL17
name: Ferritin heavy polypeptide-like 17 (Cancer/testis antigen 38) (CT38)
length: 183
go: ENSG00000132446;
snps: rs16989319 rs17340519
sequence:
MATAQPSQVRQKYDTNCDAAINSHITLELYTSYLYLSMAFYFNRDDVALENFFRYFLRLSDDKMEHAQKLMRLQNLRGGHICLHDIRKPECQGWESGLVAMESAFHLEKNVNQSLLDLYQLAVEKGDPQLCHFLESHYLHEQVKTIKELGGYVSNLRKICSPEAGLAEYLFDKLTLGGRVKET

opentargets:
cytoplasm [GO:0005737]; ferric iron binding [GO:0008199]; ferrous iron binding [GO:0008198]; ferroxidase activity [GO:0004322]; identical protein binding [GO:0042802]; iron ion binding [GO:0005506]; intracellular sequestering of iron ion [GO:0006880]; iron ion transport [GO:0006826]


uniprotID: P0C7X4
geneSymbol: FTH1P19
name: Putative ferritin heavy polypeptide-like 19 (Ferritin heavy polypeptide 1 pseudogene 19)
length: 201
snps: rs7058438 rs7055365
sequence:

opentargets:
cytoplasm [GO:0005737]; ferric iron binding [GO:0008199]; ferrous iron binding [GO:0008198]; ferroxidase activity [GO:0004322]; identical protein binding [GO:0042802]; iron ion binding [GO:0005506]; intracellular sequestering of iron ion [GO:0006880]; iron ion transport [GO:0006826]


uniprotID: Q2V2M9
geneSymbol: FHOD3
length: 1422
go: ENSG00000134775;
snps: rs9964535
name:
FH1/FH2 domain-containing protein 3 (Formactin-2) (Formin homolog overexpressed in spleen 2) (hFHOS2)

sequence:

opentargets:
striated muscle thin filament [GO:0005865]; Z disc [GO:0030018]; actin binding [GO:0003779]; actin filament organization [GO:0007015]; cardiac myofibril assembly [GO:0055003]; negative regulation of actin filament polymerization [GO:0030837]; sarcomere organization [GO:0045214]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q2V2M9-1; Sequence=Displayed; Name=2; IsoId=Q2V2M9-2; Sequence=VSP_024397, VSP_024398; Name=3; IsoId=Q2V2M9-3; Sequence=VSP_024398; Note=Prediction based on ESTs. No experimental confirmation available.; Name=4; IsoId=Q2V2M9-4; Sequence=VSP_044682, VSP_024398, VSP_044683; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21149568}. Note=Main part of the protein localizes to actin fibers and the remaining part displays filamentous staining. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm, myofibril, sarcomere, Z line. Note=Threonine phosphorylation in isoform 4-specific sequence TDTDEEEEVE is required for targeting to myofibrils in cardiomyocytes.


uniprotID: O14926
geneSymbol: FSCN2
name: Fascin-2 (Retinal fascin)
length: 492
go: ENSG00000186765;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; stereocilium [GO:0032420]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; protein binding, bridging [GO:0030674]; actin cytoskeleton organization [GO:0030036]; actin filament bundle assembly [GO:0051017]; anatomical structure morphogenesis [GO:0009653]; cell migration [GO:0016477]; establishment or maintenance of cell polarity [GO:0007163]; eye photoreceptor cell development [GO:0042462]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14926-1; Sequence=Displayed; Name=2; IsoId=O14926-2; Sequence=VSP_047285; Note=No experimental confirmation available. Gene prediction based on EST data.; 

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


uniprotID: Q9NQT6
geneSymbol: FSCN3
name: Fascin-3 (Testis fascin)
length: 498
go: ENSG00000106328;
snps: rs3779536 rs34394613
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; actin filament binding [GO:0051015]; protein binding, bridging [GO:0030674]; actin filament bundle assembly [GO:0051017]; cell migration [GO:0016477]; establishment or maintenance of cell polarity [GO:0007163]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQT6-1; Sequence=Displayed; Name=2; IsoId=Q9NQT6-2; Sequence=VSP_057001, VSP_057002, VSP_057003; Note=No experimental confirmation available.; 


uniprotID: P15408
geneSymbol: FOSL2
name: Fos-related antigen 2 (FRA-2)
length: 326
go: ENSG00000075426;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; 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 proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell death [GO:0008219]; keratinocyte development [GO:0003334]; positive regulation of fibroblast proliferation [GO:0048146]; 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=3;  Name=1; IsoId=P15408-1; Sequence=Displayed; Name=2; IsoId=P15408-2; Sequence=VSP_039127, VSP_039128, VSP_039129; Note=No experimental confirmation available.; Name=3; IsoId=P15408-3; Sequence=VSP_042083; Note=No experimental confirmation available.; 


uniprotID: Q96IV6
geneSymbol: FAXDC2
name: Fatty acid hydroxylase domain-containing protein 2
length: 333
go: ENSG00000170271;
snps: rs17641488
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; C-4 methylsterol oxidase activity [GO:0000254]; iron ion binding [GO:0005506]; sterol biosynthetic process [GO:0016126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IV6-1; Sequence=Displayed; Name=2; IsoId=Q96IV6-2; Sequence=VSP_056995; Note=No experimental confirmation available.; 


uniprotID: O75084
geneSymbol: FZD7
reactome: R-HSA-373080;R-HSA-4086400;R-HSA-4608870;
pdb: 4Z33;5T44;5URV;5WBS;
name: Frizzled-7 (Fz-7) (hFz7) (FzE3)
length: 574
go: ENSG00000155760;
snps: rs35111363 rs755615030 rs34908164 rs35600847
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; frizzled binding [GO:0005109]; G protein-coupled receptor activity [GO:0004930]; PDZ domain binding [GO:0030165]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; canonical Wnt signaling pathway [GO:0060070]; cellular response to retinoic acid [GO:0071300]; mesenchymal to epithelial transition [GO:0060231]; negative regulation of cardiac muscle cell differentiation [GO:2000726]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of ectodermal cell fate specification [GO:0042666]; neuron differentiation [GO:0030182]; non-canonical Wnt signaling pathway [GO:0035567]; non-canonical Wnt signaling pathway via JNK cascade [GO:0038031]; positive regulation of epithelial cell proliferation involved in wound healing [GO:0060054]; positive regulation of JNK cascade [GO:0046330]; positive regulation of phosphorylation [GO:0042327]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of transcription, DNA-templated [GO:0006355]; skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration [GO:0014834]; somatic stem cell division [GO:0048103]; stem cell population maintenance [GO:0019827]; substrate adhesion-dependent cell spreading [GO:0034446]; T cell differentiation in thymus [GO:0033077]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27386966}; Multi-pass membrane protein {ECO:0000269|PubMed:27386966}. Endosome membrane {ECO:0000269|PubMed:27386966}; Multi-pass membrane protein {ECO:0000269|PubMed:27386966}. Note=Associated to the plasma membrane in the presence of FZD7 and phosphatidylinositol 4,5-bisphosphate (PIP2). Localized in recycling endosomes in other conditions. {ECO:0000269|PubMed:27386966}.


uniprotID: Q8NGA4
geneSymbol: GPR32P1
length: 272
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Putative G-protein coupled receptor GPR32P1 (G-protein coupled 32 pseudogene) (G-protein coupled 32 pseudogene 1) (G-protein coupled receptor GPCR39) (hGPCR39)

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]; complement receptor mediated signaling pathway [GO:0002430]; inflammatory response [GO:0006954]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]


uniprotID: Q8N475
geneSymbol: FSTL5
name: Follistatin-related protein 5 (Follistatin-like protein 5)
length: 847
go: ENSG00000168843;
opentargets: extracellular region [GO:0005576]; calcium ion binding [GO:0005509]
snps: rs747628234 rs3749598 rs17040982
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N475-1; Sequence=Displayed; Name=2; IsoId=Q8N475-2; Sequence=VSP_046215; Note=No experimental confirmation available.; Name=3; IsoId=Q8N475-3; Sequence=VSP_046215, VSP_046216; Note=No experimental confirmation available.; 


uniprotID: Q9UKT6
geneSymbol: FBXL21
reactome: R-HSA-8951664;R-HSA-983168;
length: 434
snps: rs7705168 rs40986
name:
F-box/LRR-repeat protein 21 (F-box and leucine-rich repeat protein 21) (F-box and leucine-rich repeat protein 3B) (F-box/LRR-repeat protein 3B)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin ligase complex [GO:0000151]; ubiquitin-protein transferase activity [GO:0004842]; entrainment of circadian clock by photoperiod [GO:0043153]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; rhythmic process [GO:0048511]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Nucleus {ECO:0000250}. Note=Mainly localizes in the cytosol. Present at low level in the nucleus (By similarity). {ECO:0000250}.


uniprotID: O60861
geneSymbol: GAS7
pdb: 2LX7;2YSH;
name: Growth arrest-specific protein 7 (GAS-7)
length: 476
go: ENSG00000007237;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
actin filament [GO:0005884]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; cytoskeletal protein binding [GO:0008092]; DNA-binding transcription factor activity [GO:0003700]; actin filament polymerization [GO:0030041]; cell cycle arrest [GO:0007050]; neuron differentiation [GO:0030182]; neuron projection morphogenesis [GO:0048812]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; IsoId=O60861-3; Sequence=Displayed; Name=1; IsoId=O60861-1; Sequence=VSP_035988; Name=2; Synonyms=GAS7-CB; IsoId=O60861-2; Sequence=VSP_006802, VSP_006803; Name=4; IsoId=O60861-4; Sequence=VSP_044294, VSP_044295; 


uniprotID: P24522
geneSymbol: GADD45A
reactome: R-HSA-6804114;
pdb: 2KG4;
length: 165
go: ENSG00000116717;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7973727}.
name:
Growth arrest and DNA damage-inducible protein GADD45 alpha (DNA damage-inducible transcript 1 protein) (DDIT-1)

sequence:
MTLEEFSAGEQKTERMDKVGDALEEVLSKALSQRTITVGVYEAAKLLNVDPDNVVLCLLAADEDDDRDVALQIHFTLIQAFCCENDINILRVSNPGRLAELLLLETDAGPAASEGAEQPPDLHCVLVTNPHSSQWKDPALSQLICFCRESRYMDQWVPVINLPER

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; kinase binding [GO:0019900]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein N-terminus binding [GO:0047485]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; activation of MAPKKK activity [GO:0000185]; apoptotic process [GO:0006915]; cell cycle arrest [GO:0007050]; cellular response to ionizing radiation [GO:0071479]; cellular response to mechanical stimulus [GO:0071260]; centrosome cycle [GO:0007098]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; DNA repair [GO:0006281]; mitotic cell cycle arrest [GO:0071850]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of apoptotic process [GO:0043065]; positive regulation of JNK cascade [GO:0046330]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; regulation of cell cycle [GO:0051726]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; signal transduction in response to DNA damage [GO:0042770]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24522-1; Sequence=Displayed; Name=2; IsoId=P24522-2; Sequence=VSP_042523; Note=No experimental confirmation available.; 


uniprotID: P58550
geneSymbol: FXYD6P3
name: Putative FXYD domain-containing ion transport regulator 8
sequence: MEVVLIFVYSLLVPVVLASAAKEKEIDPFHYNYQTLRIGGLVFDVVLFLVPSCHLLSHRCKCSFNQKPQDPGDKEAQVENFITANAKEPQKAKN
length: 94
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
opentargets:
integral component of membrane [GO:0016021]; ion channel activity [GO:0005216]; sodium channel regulator activity [GO:0017080]; regulation of sodium ion transmembrane transporter activity [GO:2000649]


uniprotID: Q8IVP5
geneSymbol: FUNDC1
reactome: R-HSA-8934903;
pdb: 2N9X;5GMV;
name: FUN14 domain-containing protein 1
length: 155
go: ENSG00000069509;
snps: rs189499062
sequence:
MATRNPPPQDYESDDDSYEVLDLTEYARRHQWWNRVFGHSSGPMVEKYSVATQIVMGGVTGWCAGFLFQKVGKLAATAVGGGFLLLQIASHSGYVQIDWKRVEKDVNKAKRQIKKRANKAAPEINNLIEEATEFIKQNIVISSGFVGGFLLGLAS

opentargets:
integral component of mitochondrial outer membrane [GO:0031307]; mitochondrial outer membrane [GO:0005741]; autophagy of mitochondrion [GO:0000422]; macroautophagy [GO:0016236]; response to hypoxia [GO:0001666]; response to organonitrogen compound [GO:0010243]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:22267086}; Multi-pass membrane protein {ECO:0000269|PubMed:22267086}.


uniprotID: P62684
geneSymbol: HERVK_113
length: 666
name:
Endogenous retrovirus group K member 113 Gag polyprotein (HERV-K113 Gag protein) (HERV-K_19p13.11 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=P62684-1; Sequence=Displayed; 

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


uniprotID: P19526
geneSymbol: FUT1
length: 365
go: ENSG00000174951;
snps: rs2071699 rs747442925 rs757349699 rs104894687 rs765114567 rs28934588 rs764739319 rs1438752561
name:
Galactoside 2-alpha-L-fucosyltransferase 1 (EC 2.4.1.344) (Alpha(1,2)FT 1) (Blood group H alpha 2-fucosyltransferase) (Fucosyltransferase 1) (GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; fucosyltransferase activity [GO:0008417]; galactoside 2-alpha-L-fucosyltransferase activity [GO:0008107]; carbohydrate metabolic process [GO:0005975]; 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: Q12841
geneSymbol: FSTL1
reactome: R-HSA-201451;R-HSA-381426;R-HSA-8957275;
name: Follistatin-related protein 1 (Follistatin-like protein 1)
length: 308
go: ENSG00000163430;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; heparin binding [GO:0008201]; BMP signaling pathway [GO:0030509]; cellular protein metabolic process [GO:0044267]; post-translational protein modification [GO:0043687]; response to starvation [GO:0042594]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12841-1; Sequence=Displayed; Name=2; IsoId=Q12841-2; Sequence=VSP_055075; Note=No experimental confirmation available.; 


uniprotID: Q86XJ1
geneSymbol: GAS2L3
name: GAS2-like protein 3 (Growth arrest-specific protein 2-like 3)
length: 694
go: ENSG00000139354;
snps: rs11834625 rs17030365
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; actin binding [GO:0003779]; microtubule binding [GO:0008017]; actin cytoskeleton organization [GO:0030036]; microtubule cytoskeleton organization [GO:0000226]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21561867}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21561867}. Note=Localizes to microtubule and actin cytoskeletons.


uniprotID: O14976
geneSymbol: GAK
reactome: R-HSA-432722;R-HSA-8856828;
pdb: 4C57;4C58;4C59;4O38;4Y8D;5Y7Z;5Y80;
name: Cyclin-G-associated kinase (EC 2.7.11.1)
length: 1311
go: ENSG00000178950;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; presynapse [GO:0098793]; vesicle [GO:0031982]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; clathrin binding [GO:0030276]; cyclin binding [GO:0030332]; protein serine/threonine kinase activity [GO:0004674]; cell cycle [GO:0007049]; chaperone cofactor-dependent protein refolding [GO:0051085]; clathrin coat disassembly [GO:0072318]; clathrin-coated pit assembly [GO:1905224]; clathrin-dependent endocytosis [GO:0072583]; endoplasmic reticulum organization [GO:0007029]; Golgi organization [GO:0007030]; Golgi to lysosome transport [GO:0090160]; membrane organization [GO:0061024]; negative regulation of neuron projection development [GO:0010977]; protein localization to Golgi apparatus [GO:0034067]; protein localization to plasma membrane [GO:0072659]; receptor-mediated endocytosis [GO:0006898]; synaptic vesicle uncoating [GO:0016191]

snps:
rs768962219 rs34255232 rs34585705 rs149842313 rs35227944 rs55801437 rs56169884 rs56326341 rs2306242 rs1134921 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14976-1; Sequence=Displayed; Name=2; IsoId=O14976-2; Sequence=VSP_054479; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:10625686}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:10625686}. Cell junction, focal adhesion {ECO:0000305|PubMed:10625686}. Note=Localizes to the perinuclear area and to the trans-Golgi network. Also seen on the plasma membrane, probably at focal adhesions.


uniprotID: Q8N292
geneSymbol: GAPT
name: Protein GAPT (Growth factor receptor-bound protein 2-binding adapter protein, transmembrane)
length: 157
go: ENSG00000175857;
snps: rs35260984
sequence:
MSKSCGNNLAAISVGISLLLLLVVCGIGCVWHWKHRVATRFTLPRFLQRRSSRRKVCTKTFLGPRIIGLRHEISVETQDHKSAVRGNNTHDNYENVEAGPPKAKGKTDKELYENTGQSNFEEHIYGNETSSDYYNFQKPRPSEVPQDEDIYILPDSY

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; B cell homeostasis [GO:0001782]; B cell proliferation involved in immune response [GO:0002322]; immunoglobulin production involved in immunoglobulin mediated immune response [GO:0002381]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18559951}; Single-pass membrane protein {ECO:0000269|PubMed:18559951}.


uniprotID: Q9H0R6
geneSymbol: QRSL1
length: 528
go: ENSG00000130348;
snps: rs36016898 rs34221917
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03150, ECO:0000269|PubMed:19805282}.
name:
Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial (Glu-AdT subunit A) (EC 6.3.5.7) (Glutaminyl-tRNA synthase-like protein 1)

sequence:

opentargets:
glutamyl-tRNA(Gln) amidotransferase complex [GO:0030956]; mitochondrion [GO:0005739]; amidase activity [GO:0004040]; ATP binding [GO:0005524]; glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity [GO:0050567]; glutaminyl-tRNAGln biosynthesis via transamidation [GO:0070681]; mitochondrial translation [GO:0032543]; regulation of protein stability [GO:0031647]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0R6-1; Sequence=Displayed; Name=2; IsoId=Q9H0R6-2; Sequence=VSP_030773, VSP_030774; 


uniprotID: Q13065
geneSymbol: GAGE1
name: G antigen 1 (GAGE-1) (Antigen MZ2-F) (Cancer/testis antigen 4.1) (CT4.1)
length: 139
go: ENSG00000205777;
opentargets: cellular defense response [GO:0006968]
sequence:
MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEEMRSHYVAQTGILWLLMNNCFLNLSPRKP


uniprotID: Q99501
geneSymbol: GAS2L1
length: 681
go: ENSG00000185340;
snps: rs34124440
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
name:
GAS2-like protein 1 (GAS2-related protein on chromosome 22) (Growth arrest-specific protein 2-like 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytoskeletal adaptor activity [GO:0008093]; microtubule binding [GO:0008017]; thyroid hormone receptor binding [GO:0046966]; cell cycle arrest [GO:0007050]; cellular response to starvation [GO:0009267]; cellular response to thyroid hormone stimulus [GO:0097067]; microtubule bundle formation [GO:0001578]; negative regulation of cell growth [GO:0030308]; negative regulation of erythrocyte differentiation [GO:0045647]; negative regulation of gene expression [GO:0010629]; negative regulation of microtubule depolymerization [GO:0007026]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Beta; IsoId=Q99501-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q99501-2; Sequence=VSP_015493; Name=3; IsoId=Q99501-3; Sequence=VSP_015494, VSP_015495; Note=No experimental confirmation available.; Name=4; IsoId=Q99501-4; Sequence=VSP_055754; 


uniprotID: Q96A11
geneSymbol: GAL3ST3
length: 431
go: ENSG00000175229;
snps: rs35285455 rs4565902
name:
Galactose-3-O-sulfotransferase 3 (Gal3ST-3) (EC 2.8.2.-) (Beta-galactose-3-O-sulfotransferase 3) (Gal3ST3) (Gal-beta-1, 3-GalNAc 3'-sulfotransferase 3)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; 3'-phosphoadenosine 5'-phosphosulfate binding [GO:0050656]; carbohydrate binding [GO:0030246]; galactose 3-O-sulfotransferase activity [GO:0050694]; galactosylceramide sulfotransferase activity [GO:0001733]; proteoglycan sulfotransferase activity [GO:0050698]; glycolipid biosynthetic process [GO:0009247]; monosaccharide metabolic process [GO:0005996]; oligosaccharide metabolic process [GO:0009311]; poly-N-acetyllactosamine metabolic process [GO:0030309]; proteoglycan biosynthetic process [GO:0030166]; sulfur compound metabolic process [GO:0006790]

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


uniprotID: P23769
geneSymbol: GATA2
reactome: R-HSA-8939236;R-HSA-983231;
name: Endothelial transcription factor GATA-2 (GATA-binding protein 2)
length: 480
go: ENSG00000179348;
snps: rs2335052 rs35079193 rs387906630 rs387906631 rs387906633 rs387906629
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; C2H2 zinc finger domain binding [GO:0070742]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer sequence-specific DNA binding [GO:0001158]; 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]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; anatomical structure formation involved in morphogenesis [GO:0048646]; animal organ morphogenesis [GO:0009887]; blood coagulation [GO:0007596]; cell development [GO:0048468]; cell differentiation in hindbrain [GO:0021533]; cell fate determination [GO:0001709]; cell maturation [GO:0048469]; central nervous system neuron development [GO:0021954]; cochlea development [GO:0090102]; commitment of neuronal cell to specific neuron type in forebrain [GO:0021902]; definitive hemopoiesis [GO:0060216]; embryonic placenta development [GO:0001892]; eosinophil fate commitment [GO:0035854]; GABAergic neuron differentiation [GO:0097154]; heart development [GO:0007507]; homeostasis of number of cells within a tissue [GO:0048873]; inner ear morphogenesis [GO:0042472]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of fat cell proliferation [GO:0070345]; negative regulation of gene expression [GO:0010629]; negative regulation of macrophage differentiation [GO:0045650]; negative regulation of neural precursor cell proliferation [GO:2000178]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron migration [GO:0001764]; phagocytosis [GO:0006909]; pituitary gland development [GO:0021983]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903589]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of gene expression [GO:0010628]; positive regulation of mast cell degranulation [GO:0043306]; positive regulation of megakaryocyte differentiation [GO:0045654]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of phagocytosis [GO:0050766]; positive regulation of phagocytosis, engulfment [GO:0060100]; positive regulation of transcription by RNA polymerase II [GO:0045944]; pri-miRNA transcription by RNA polymerase II [GO:0061614]; regulation of forebrain neuron differentiation [GO:2000977]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of histone acetylation [GO:0035065]; regulation of primitive erythrocyte differentiation [GO:0010725]; response to lipid [GO:0033993]; semicircular canal development [GO:0060872]; somatic stem cell population maintenance [GO:0035019]; tissue development [GO:0009888]; transcription, DNA-templated [GO:0006351]; urogenital system development [GO:0001655]; ventral spinal cord interneuron differentiation [GO:0021514]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23769-1; Sequence=Displayed; Name=2; IsoId=P23769-2; Sequence=VSP_041126; 


uniprotID: P34059
geneSymbol: GALNS
reactome: R-HSA-2022857;R-HSA-2206290;R-HSA-6798695;
pdb: 4FDI;4FDJ;
length: 522
go: ENSG00000141012;
drug: DB09051;
location: SUBCELLULAR LOCATION: Lysosome.
name:
N-acetylgalactosamine-6-sulfatase (EC 3.1.6.4) (Chondroitinsulfatase) (Chondroitinase) (Galactose-6-sulfate sulfatase) (GalN6S) (N-acetylgalactosamine-6-sulfate sulfatase) (GalNAc6S sulfatase)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; lysosomal lumen [GO:0043202]; metal ion binding [GO:0046872]; N-acetylgalactosamine-4-sulfatase activity [GO:0003943]; N-acetylgalactosamine-6-sulfatase activity [GO:0043890]; sulfuric ester hydrolase activity [GO:0008484]; keratan sulfate catabolic process [GO:0042340]; neutrophil degranulation [GO:0043312]

snps:
rs866745731 rs794729202 rs755832705 rs199638097 rs191519947 rs118204447 rs145798311 rs11862754 rs118204445 rs1263679818 rs141340188 rs1028668536 rs118204441 rs763184657 rs118204438 rs746949976 rs118204436 rs146093755 rs794727625 rs577334837 rs1168278189 rs559063128 rs398123438 rs1301146300 rs118204444 rs761725425 rs768757999 rs148565559 rs775732598 rs7187889 rs772413313 rs118204435 rs771810111 rs747805226 rs34745339 rs753051547 rs398123440 rs761385192 rs1199639828 rs775300515 rs773283163 rs118204442 rs144067930 rs770053354 rs975409254 rs118204448 rs149239881 rs118204443 rs118204446 rs746756997 rs1269110043 rs267606838 rs761386453 rs769748679 rs778120439 rs150734270 rs770908172 rs200763834 rs118204437 rs373739301 rs398123429 rs398123430 rs2303269 rs749578474 rs142822371 rs398123432 rs114703967 rs118204440 rs78127134 rs760300454 rs886039377 rs398123433 


uniprotID: O14556
geneSymbol: GAPDHS
reactome: R-HSA-390471;R-HSA-70171;R-HSA-70263;
pdb: 3H9E;3PFW;5C7L;5C7O;
length: 408
go: ENSG00000105679;
drug: DB00157;
snps: rs2285514
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Glyceraldehyde-3-phosphate dehydrogenase, testis-specific (EC 1.2.1.12) (Spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2) (GAPDH-2) (Spermatogenic glyceraldehyde-3-phosphate dehydrogenase)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity [GO:0004365]; NAD binding [GO:0051287]; NADP binding [GO:0050661]; canonical glycolysis [GO:0061621]; flagellated sperm motility [GO:0030317]; gluconeogenesis [GO:0006094]; glycolytic process [GO:0006096]; positive regulation of glycolytic process [GO:0045821]


uniprotID: Q96RP7
geneSymbol: GAL3ST4
length: 486
go: ENSG00000197093;
snps: rs3800952 rs3823646
name:
Galactose-3-O-sulfotransferase 4 (Gal3ST-4) (EC 2.8.2.-) (Beta-galactose-3-O-sulfotransferase 4) (Gal-beta-1,3-GalNAc 3'-sulfotransferase)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 3'-phosphoadenosine 5'-phosphosulfate binding [GO:0050656]; galactose 3-O-sulfotransferase activity [GO:0050694]; galactosylceramide sulfotransferase activity [GO:0001733]; proteoglycan sulfotransferase activity [GO:0050698]; cell-cell signaling [GO:0007267]; glycolipid biosynthetic process [GO:0009247]; glycoprotein metabolic process [GO:0009100]; oligosaccharide metabolic process [GO:0009311]; proteoglycan biosynthetic process [GO:0030166]; sulfur compound metabolic process [GO:0006790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96RP7-1; Sequence=Displayed; Name=2; IsoId=Q96RP7-2; Sequence=VSP_057006, VSP_057007; Note=No experimental confirmation available.; 

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


uniprotID: Q96AE4
geneSymbol: FUBP1
pdb: 1J4W;2KXH;4LIJ;
name: Far upstream element-binding protein 1 (FBP) (FUSE-binding protein 1) (DNA helicase V) (hDH V)
length: 644
go: ENSG00000162613;
drug: DB05786;
snps: rs12748509
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; positive regulation of gene expression [GO:0010628]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AE4-1; Sequence=Displayed; Name=2; IsoId=Q96AE4-2; Sequence=VSP_021107, VSP_008321; Note=No experimental confirmation available.; 


uniprotID: P51116
geneSymbol: FXR2
pdb: 3H8Z;
name: Fragile X mental retardation syndrome-related protein 2
length: 673
go: ENSG00000129245;
snps: rs17854734 rs36013555
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; cytosolic large ribosomal subunit [GO:0022625]; dendritic spine [GO:0043197]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; polysome [GO:0005844]; postsynaptic density [GO:0014069]; ribonucleoprotein granule [GO:0035770]; identical protein binding [GO:0042802]; mRNA 3'-UTR binding [GO:0003730]; mRNA binding [GO:0003729]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; translation regulator activity [GO:0045182]; negative regulation of translation [GO:0017148]; positive regulation of translation [GO:0045727]; regulation of mRNA stability [GO:0043488]


uniprotID: Q14393
geneSymbol: GAS6
reactome: R-HSA-114608;R-HSA-159740;R-HSA-159763;R-HSA-159782;R-HSA-202733;R-HSA-381426;R-HSA-8957275;
pdb: 1H30;2C5D;4RA0;5VXZ;
name: Growth arrest-specific protein 6 (GAS-6) (AXL receptor tyrosine kinase ligand)
length: 678
go: ENSG00000183087;
snps: rs146159446
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9326369}.
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; platelet alpha granule lumen [GO:0031093]; calcium ion binding [GO:0005509]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; molecular adaptor activity [GO:0060090]; phosphatidylserine binding [GO:0001786]; protein tyrosine kinase activator activity [GO:0030296]; receptor ligand activity [GO:0048018]; receptor tyrosine kinase binding [GO:0030971]; signaling receptor binding [GO:0005102]; voltage-gated calcium channel activity [GO:0005245]; activation of protein kinase B activity [GO:0032148]; animal organ regeneration [GO:0031100]; apoptotic cell clearance [GO:0043277]; B cell chemotaxis [GO:0035754]; calcium ion transmembrane transport [GO:0070588]; cell adhesion [GO:0007155]; cell cycle arrest [GO:0007050]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cell-substrate adhesion [GO:0031589]; cellular protein metabolic process [GO:0044267]; cellular response to drug [GO:0035690]; cellular response to glucose stimulus [GO:0071333]; cellular response to growth factor stimulus [GO:0071363]; cellular response to interferon-alpha [GO:0035457]; cellular response to starvation [GO:0009267]; cellular response to vitamin K [GO:0071307]; dendritic cell differentiation [GO:0097028]; enzyme linked receptor protein signaling pathway [GO:0007167]; ER to Golgi vesicle-mediated transport [GO:0006888]; extracellular matrix assembly [GO:0085029]; fusion of virus membrane with host plasma membrane [GO:0019064]; hematopoietic stem cell migration to bone marrow [GO:0097241]; leukocyte migration [GO:0050900]; macrophage cytokine production [GO:0010934]; negative regulation of apoptotic process [GO:0043066]; negative regulation of biomineral tissue development [GO:0070168]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of dendritic cell apoptotic process [GO:2000669]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of fibroblast apoptotic process [GO:2000270]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-1 secretion [GO:0050711]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of oligodendrocyte apoptotic process [GO:1900142]; negative regulation of protein import into nucleus, translocation [GO:0033159]; negative regulation of renal albumin absorption [GO:2000533]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of tumor necrosis factor production [GO:0032720]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; neuron migration [GO:0001764]; peptidyl-serine phosphorylation [GO:0018105]; phagocytosis [GO:0006909]; platelet activation [GO:0030168]; platelet aggregation [GO:0070527]; platelet degranulation [GO:0002576]; positive regulation of cytokine-mediated signaling pathway [GO:0001961]; positive regulation of dendritic cell chemotaxis [GO:2000510]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of gene expression [GO:0010628]; positive regulation of glomerular filtration [GO:0003104]; positive regulation of natural killer cell differentiation [GO:0032825]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of phagocytosis [GO:0050766]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of TOR signaling [GO:0032008]; post-translational protein modification [GO:0043687]; protein kinase B signaling [GO:0043491]; protein localization to plasma membrane [GO:0072659]; protein phosphorylation [GO:0006468]; receptor-mediated virion attachment to host cell [GO:0046813]; regulation of growth [GO:0040008]; signal transduction [GO:0007165]; viral entry into host cell [GO:0046718]; viral genome replication [GO:0019079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q14393-2; Sequence=Displayed; Name=2; Synonyms=gas6SV {ECO:0000303|PubMed:9326368}; IsoId=Q14393-1; Sequence=VSP_059770; Name=3; IsoId=Q14393-3; Sequence=VSP_059769; Note=No experimental confirmation available.; Name=4; IsoId=Q14393-4; Sequence=VSP_059768; Name=5; IsoId=Q14393-5; Sequence=VSP_059767; Note=No experimental confirmation available.; 


uniprotID: Q9BQS8
geneSymbol: FYCO1
pdb: 5CX3;5D94;
name: FYVE and coiled-coil domain-containing protein 1 (Zinc finger FYVE domain-containing protein 7)
length: 1478
go: ENSG00000163820;
snps: rs4683158 rs9875356 rs3733100 rs3733101 rs33910087 rs3796375 rs34801630 rs13059238 rs387906965
sequence:

opentargets:
autophagosome [GO:0005776]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; lysosome [GO:0005764]; membrane [GO:0016020]; metal ion binding [GO:0046872]; plus-end-directed vesicle transport along microtubule [GO:0072383]; positive regulation of autophagosome maturation [GO:1901098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BQS8-1; Sequence=Displayed; Name=2; IsoId=Q9BQS8-2; Sequence=VSP_019795, VSP_019797; Note=No experimental confirmation available.; Name=3; IsoId=Q9BQS8-3; Sequence=VSP_019796, VSP_019797; Note=No experimental confirmation available.; Name=4; IsoId=Q9BQS8-4; Sequence=VSP_054477; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome. Endosome. Lysosome. Note=Localizes to the external but not to the internal membrane of autophagosomes, and upon autophagosome/late endosome/lysosome fusion, it stays on the external surface of autolysosomes.


uniprotID: P63145
geneSymbol: ERVK-24
length: 666
name:
Endogenous retrovirus group K member 24 Gag polyprotein (HERV-K101 Gag protein) (HERV-K_22q11.21 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=P63145-1; Sequence=Displayed; 

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


uniprotID: A0A0B4J2D5
geneSymbol: GATD3B
length: 268
go: ENSG00000280071;
opentargets: mitochondrion [GO:0005739]
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial (Keio novel protein-I) (KNP-I) (Protein GT335) (Protein HES1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=KNP-IA, long; IsoId=A0A0B4J2D5-1, P30042-1; Sequence=Displayed; Name=2; Synonyms=KNP-IB, short; IsoId=A0A0B4J2D5-2, P30042-2; Sequence=VSP_059660; 


uniprotID: Q9NP62
geneSymbol: GCM1
length: 436
go: ENSG00000137270;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00245}.
name:
Chorion-specific transcription factor GCMa (hGCMa) (GCM motif protein 1) (Glial cells missing homolog 1)

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]; histone deacetylase binding [GO:0042826]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; anatomical structure morphogenesis [GO:0009653]; astrocyte fate commitment [GO:0060018]; branching involved in labyrinthine layer morphogenesis [GO:0060670]; cell differentiation involved in embryonic placenta development [GO:0060706]; positive regulation of syncytium formation by plasma membrane fusion [GO:0060143]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell differentiation involved in embryonic placenta development [GO:0060800]; regulation of transcription, DNA-templated [GO:0006355]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q9NZC3
geneSymbol: GDE1
reactome: R-HSA-6814848;
length: 331
go: ENSG00000006007;
snps: rs2072086 rs34137361
name:
Glycerophosphodiester phosphodiesterase 1 (EC 3.1.4.-) (EC 3.1.4.44) (Membrane-interacting protein of RGS16) (RGS16-interacting membrane protein)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; glycerophosphodiester phosphodiesterase activity [GO:0008889]; glycerophosphoinositol glycerophosphodiesterase activity [GO:0047395]; lysophospholipase activity [GO:0004622]; metal ion binding [GO:0046872]; glycerophospholipid catabolic process [GO:0046475]; lipid metabolic process [GO:0006629]; N-acylethanolamine metabolic process [GO:0070291]; phospholipid metabolic process [GO:0006644]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9JL55}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q9JL55}; Multi-pass membrane protein {ECO:0000255}. Note=Perinuclear vesicles and cell membrane. {ECO:0000250|UniProtKB:Q9JL55}.


uniprotID: P18505
geneSymbol: GABRB1
reactome: R-HSA-112314;R-HSA-977441;
name: Gamma-aminobutyric acid receptor subunit beta-1 (GABA(A) receptor subunit beta-1)
length: 474
go: ENSG00000163288;
snps: rs886039817 rs886039818 rs41311286 rs17852014
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; GABA-A receptor complex [GO:1902711]; GABA-ergic synapse [GO:0098982]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; nuclear envelope [GO:0005635]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; GABA receptor binding [GO:0050811]; GABA-A receptor activity [GO:0004890]; GABA-gated chloride ion channel activity [GO:0022851]; ligand-gated ion channel activity [GO:0015276]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; cellular response to histamine [GO:0071420]; central nervous system neuron development [GO:0021954]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; gamma-aminobutyric acid signaling pathway [GO:0007214]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; nervous system process [GO:0050877]; ovulation cycle [GO:0042698]; regulation of membrane potential [GO:0042391]; response to progesterone [GO:0032570]; response to toxic substance [GO:0009636]; signal transduction [GO:0007165]

drug:
DB00659;DB00546;DB00404;DB00543;DB01558;DB00237;DB00241;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01567;DB01205;DB00690;DB01440;DB01437;DB00801;DB01159;DB00753;DB01587;DB00431;DB00186;DB00371;DB00463;DB01028;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB01708;DB01588;DB00794;DB00818;DB01589;DB01236;DB00306;DB00231;DB11582;DB00273;DB00897;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P18505-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P18505-2; Sequence=VSP_055900, VSP_055901; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:P50571}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P50571}. Cell membrane {ECO:0000269|PubMed:26950270}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P50571}.


uniprotID: P23434
geneSymbol: GCSH
reactome: R-HSA-389661;R-HSA-6783984;
name: Glycine cleavage system H protein, mitochondrial (Lipoic acid-containing protein)
length: 173
go: ENSG00000140905;
drug: DB03187;DB03760;DB00145;
snps: rs8052579 rs8177877
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:P20821}.
sequence:
MALRVVRSVRALLCTLRAVPSPAAPCPPRPWQLGVGAVRTLRTGPALLSVRKFTEKHEWVTTENGIGTVGISNFAQEALGDVVYCSLPEVGTKLNKQDEFGALESVKAASELYSPLSGEVTEINEALAENPGLVNKSCYEDGWLIKMTLSNPSELDELMSEEAYEKYIKSIEE

opentargets:
glycine cleavage complex [GO:0005960]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; aminomethyltransferase activity [GO:0004047]; glycine catabolic process [GO:0006546]; glycine decarboxylation via glycine cleavage system [GO:0019464]; protein lipoylation [GO:0009249]


uniprotID: Q9UK08
geneSymbol: GNG8
name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 (Gamma-9)
sequence: MSNNMAKIAEARKTVEQLKLEVNIDRMKVSQAAAELLAFCETHAKDDPLVTPVPAAENPFRDKRLFCVLL
length: 70
go: ENSG00000167414;
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:
heterotrimeric G-protein complex [GO:0005834]; plasma membrane [GO:0005886]; GTPase activity [GO:0003924]; cellular response to pheromone [GO:0071444]; G protein-coupled receptor signaling pathway [GO:0007186]; nervous system development [GO:0007399]; nose development [GO:0043584]; social behavior [GO:0035176]


uniprotID: P32239
geneSymbol: CCKBR
reactome: R-HSA-375276;R-HSA-416476;R-HSA-881907;
pdb: 1L4T;
length: 447
go: ENSG00000110148;
drug: DB00183;
snps: rs1805000 rs35816985 rs1805002 rs1805004 rs1805001
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Gastrin/cholecystokinin type B receptor (CCK-B receptor) (CCK-BR) (Cholecystokinin-2 receptor) (CCK2-R)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; cholecystokinin receptor activity [GO:0004951]; gastrin receptor activity [GO:0015054]; peptide hormone binding [GO:0017046]; type B gastrin/cholecystokinin receptor binding [GO:0031741]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; cholecystokinin signaling pathway [GO:0038188]; digestive tract development [GO:0048565]; G protein-coupled receptor signaling pathway [GO:0007186]; gastric acid secretion [GO:0001696]; gland development [GO:0048732]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P32239-1; Sequence=Displayed; Name=2; Synonyms=CCK-C, CCK-BRi4sv; IsoId=P32239-2; Sequence=VSP_033445; Name=3; Synonyms=DeltaCCK-B; IsoId=P32239-3; Sequence=VSP_033444; 


uniprotID: P55040
geneSymbol: GEM
pdb: 2CJW;2G3Y;2HT6;
name: GTP-binding protein GEM (GTP-binding mitogen-induced T-cell protein) (RAS-like protein KIR)
length: 296
go: ENSG00000164949;
snps: rs2170363
location: SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side.
sequence:

opentargets:
cytoplasmic side of plasma membrane [GO:0009898]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; spindle midzone [GO:0051233]; calmodulin binding [GO:0005516]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; magnesium ion binding [GO:0000287]; cell surface receptor signaling pathway [GO:0007166]; chromosome organization [GO:0051276]; immune response [GO:0006955]; metaphase plate congression [GO:0051310]; mitotic cell cycle [GO:0000278]; negative regulation of high voltage-gated calcium channel activity [GO:1901842]; signal transduction [GO:0007165]


uniprotID: O14610
geneSymbol: GNGT2
sequence: MAQDLSEKDLLKMEVEQLKKEVKNTRIPISKAGKEIKEYVEAQAGNDPFLKGIPEDKNPFKEKGGCLIS
length: 69
go: ENSG00000167083;
snps: rs9895097
reactome:
R-HSA-1296041;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;

name:
Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 (G gamma-C) (G-gamma-8) (G-gamma-9) (Guanine nucleotide binding protein gamma transducing activity polypeptide 2)

opentargets:
heterotrimeric G-protein complex [GO:0005834]; plasma membrane [GO:0005886]; GTPase activity [GO:0003924]; G protein-coupled receptor signaling pathway [GO:0007186]; phototransduction [GO:0007602]


uniprotID: A6NGK3
geneSymbol: GAGE10
name: G antigen 10 (GAGE-10)
length: 116
sequence:
MSWRGRSTYRSRPRLYVEPPEMIGPMLPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQVHPKTGCECGDGPDGQEMGLPNPEEVKRPEEGEKQSQC


uniprotID: Q4V321
geneSymbol: GAGE13
name: G antigen 13 (GAGE-13) (G antigen 12A) (GAGE-12A)
length: 117
go: ENSG00000274274;
sequence:
MSWRGRSTYYWPRPRRYVEPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEKQSQC


uniprotID: P16383
geneSymbol: GCFC2
reactome: R-HSA-72163;
length: 781
go: ENSG00000005436;
snps: rs7559767 rs7560262 rs6742946 rs6722682 rs17690300
name:
GC-rich sequence DNA-binding factor 2 (GC-rich sequence DNA-binding factor) (Transcription factor 9) (TCF-9)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U2-type post-mRNA release spliceosomal complex [GO:0071008]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of transcription, DNA-templated [GO:0006355]; spliceosomal complex assembly [GO:0000245]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P16383-1; Sequence=Displayed; Name=2; IsoId=P16383-2; Sequence=VSP_021798; Note=No experimental confirmation available.; Name=3; IsoId=P16383-3; Sequence=VSP_054362, VSP_054363; Name=4; IsoId=P16383-4; Sequence=VSP_057398, VSP_057399; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:24304693}. Nucleus, nucleolus {ECO:0000269|PubMed:24304693}.


uniprotID: Q5JY77
geneSymbol: GPRASP1
name: G-protein coupled receptor-associated sorting protein 1 (GASP-1)
length: 1395
go: ENSG00000198932;
snps: rs17339512 rs17292748 rs2235804
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15452121}.
sequence:

opentargets:
cytosol [GO:0005829]; endosome to lysosome transport [GO:0008333]; G protein-coupled receptor catabolic process [GO:1990172]


uniprotID: Q14549
geneSymbol: GBX1
pdb: 2M34;2ME0;2ME6;2N8G;
name: Homeobox protein GBX-1 (Gastrulation and brain-specific homeobox protein 1)
length: 363
go: ENSG00000164900;
snps: rs11975799
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; adult walking behavior [GO:0007628]; neuron fate commitment [GO:0048663]; proprioception [GO:0019230]; sensory neuron axon guidance [GO:0097374]; spinal cord motor neuron differentiation [GO:0021522]


uniprotID: Q9BWX5
geneSymbol: GATA5
reactome: R-HSA-983231;
name: Transcription factor GATA-5 (GATA-binding factor 5)
length: 397
go: ENSG00000130700;
snps: rs113068438 rs200383755 rs6142775 rs111554140 rs141950357 rs782051102 rs997414695
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
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]; enhancer sequence-specific DNA binding [GO:0001158]; 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 activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; anatomical structure formation involved in morphogenesis [GO:0048646]; animal organ morphogenesis [GO:0009887]; aortic valve morphogenesis [GO:0003180]; blood coagulation [GO:0007596]; cell development [GO:0048468]; cellular response to BMP stimulus [GO:0071773]; endocardial cushion fusion [GO:0003274]; heart development [GO:0007507]; intestinal epithelial cell differentiation [GO:0060575]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; negative regulation of gene expression [GO:0010629]; positive regulation of cardiac endothelial to mesenchymal transition [GO:0062000]; positive regulation of gene expression [GO:0010628]; positive regulation of Notch signaling pathway involved in heart induction [GO:0035481]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter involved in heart development [GO:1901228]; tissue development [GO:0009888]


uniprotID: P15976
geneSymbol: GATA1
reactome: R-HSA-8936459;R-HSA-8939236;R-HSA-983231;
length: 413
go: ENSG00000102145;
snps: rs104894815 rs137852312 rs104894809 rs104894816 rs104894808
location: SUBCELLULAR LOCATION: Nucleus.
name:
Erythroid transcription factor (Eryf1) (GATA-binding factor 1) (GATA-1) (GF-1) (NF-E1 DNA-binding protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; transcription factor complex [GO:0005667]; transcriptional repressor complex [GO:0017053]; C2H2 zinc finger domain binding [GO:0070742]; 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]; p53 binding [GO:0002039]; 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]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; anatomical structure formation involved in morphogenesis [GO:0048646]; animal organ morphogenesis [GO:0009887]; basophil differentiation [GO:0030221]; blood coagulation [GO:0007596]; cell development [GO:0048468]; cell-cell signaling [GO:0007267]; cellular response to thyroid hormone stimulus [GO:0097067]; dendritic cell differentiation [GO:0097028]; embryonic hemopoiesis [GO:0035162]; eosinophil differentiation [GO:0030222]; eosinophil fate commitment [GO:0035854]; erythrocyte development [GO:0048821]; erythrocyte differentiation [GO:0030218]; heart development [GO:0007507]; homeostasis of number of cells within a tissue [GO:0048873]; in utero embryonic development [GO:0001701]; male gonad development [GO:0008584]; megakaryocyte differentiation [GO:0030219]; negative regulation of apoptotic process [GO:0043066]; negative regulation of bone mineralization [GO:0030502]; negative regulation of cell proliferation [GO:0008285]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; platelet aggregation [GO:0070527]; platelet formation [GO:0030220]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of osteoblast proliferation [GO:0033690]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of definitive erythrocyte differentiation [GO:0010724]; regulation of glycoprotein biosynthetic process [GO:0010559]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of primitive erythrocyte differentiation [GO:0010725]; tissue development [GO:0009888]; transcription by RNA polymerase II [GO:0006366]; transcriptional activation by promoter-enhancer looping [GO:0071733]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=1; IsoId=P15976-1; Sequence=Displayed; Name=2; IsoId=P15976-2; Sequence=VSP_014782; Note=No experimental confirmation available.; Name=3; Synonyms=GATA-1s; IsoId=P15976-3; Sequence=VSP_041451; Note=Produced by alternative initiation at Met-84 of isoform 1.; 


uniprotID: P50395
geneSymbol: GDI2
reactome: R-HSA-194840;R-HSA-6798695;R-HSA-8876198;
length: 445
go: ENSG00000057608;
name:
Rab GDP dissociation inhibitor beta (Rab GDI beta) (Guanosine diphosphate dissociation inhibitor 2) (GDI-2)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; myelin sheath [GO:0043209]; secretory granule lumen [GO:0034774]; synapse [GO:0045202]; vesicle [GO:0031982]; GTPase activator activity [GO:0005096]; Rab GDP-dissociation inhibitor activity [GO:0005093]; RNA binding [GO:0003723]; small GTPase binding [GO:0031267]; neutrophil degranulation [GO:0043312]; protein transport [GO:0015031]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50395-1; Sequence=Displayed; Name=2; IsoId=P50395-2; Sequence=VSP_043469; Note=No experimental confirmation available.; 


uniprotID: Q68DA7
geneSymbol: FMN1
name: Formin-1 (Limb deformity protein homolog)
length: 1419
go: ENSG00000248905;
snps: rs2306277
sequence:

opentargets:
actin filament [GO:0005884]; adherens junction [GO:0005912]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; microtubule binding [GO:0008017]; SH3 domain binding [GO:0017124]; actin nucleation [GO:0045010]; forelimb morphogenesis [GO:0035136]; gene expression [GO:0010467]; hindlimb morphogenesis [GO:0035137]; positive regulation of actin nucleation [GO:0051127]; positive regulation of focal adhesion assembly [GO:0051894]; skeletal system morphogenesis [GO:0048705]; ureteric bud invasion [GO:0072092]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q68DA7-1; Sequence=Displayed; Name=2; IsoId=Q68DA7-2; Sequence=VSP_027209, VSP_027210; Note=No experimental confirmation available.; Name=3; IsoId=Q68DA7-3; Sequence=VSP_027208, VSP_027211, VSP_027212, VSP_027213; Name=5; IsoId=Q68DA7-5; Sequence=VSP_027208, VSP_027211; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Cell junction, adherens junction {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Localization to the adherens junctions is alpha-catenin-dependent. Also localizes to F-actin bundles originating from adherens junctions and to microtubules (By similarity). {ECO:0000250}.


uniprotID: Q8IXR5
geneSymbol: FAM178B
name: Protein FAM178B
length: 827
go: ENSG00000168754;
snps: rs34013660
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IXR5-1; Sequence=Displayed; Name=2; IsoId=Q8IXR5-2; Sequence=VSP_031636; Name=3; IsoId=Q8IXR5-3; Sequence=VSP_047162; Note=Gene prediction based on EST data.; 


uniprotID: P0C7X0
geneSymbol: FAM90A24P
name: Putative protein FAM90A24P
length: 464
sequence:


uniprotID: D6RGX4
geneSymbol: FAM90A26
name: Putative protein FAM90A26
length: 464
sequence:


uniprotID: Q5RKV6
geneSymbol: EXOSC6
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: 272
go: ENSG00000223496;
name:
Exosome complex component MTR3 (Exosome component 6) (mRNA transport regulator 3 homolog) (hMtr3) (p11)

sequence:

opentargets:
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]; RNA binding [GO:0003723]; DNA deamination [GO:0045006]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; isotype switching [GO:0045190]; nuclear mRNA surveillance [GO:0071028]; nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' [GO:0034427]; polyadenylation-dependent snoRNA 3'-end processing [GO:0071051]; positive regulation of isotype switching [GO:0045830]; regulation of mRNA stability [GO:0043488]; RNA phosphodiester bond hydrolysis, exonucleolytic [GO:0090503]; rRNA catabolic process [GO:0016075]; rRNA processing [GO:0006364]; U4 snRNA 3'-end processing [GO:0034475]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus, nucleolus {ECO:0000305}. Nucleus {ECO:0000305}.


uniprotID: Q9H4H8
geneSymbol: FAM83D
pdb: 5E0L;5E0M;
name: Protein FAM83D (Spindle protein CHICA)
length: 585
go: ENSG00000101447;
sequence:

opentargets:
cytoplasm [GO:0005737]; mitotic spindle pole [GO:0097431]; kinesin binding [GO:0019894]; microtubule binding [GO:0008017]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; epithelial to mesenchymal transition [GO:0001837]; metaphase plate congression [GO:0051310]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; protein localization to mitotic spindle [GO:1902480]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of protein catabolic process [GO:0042176]; regulation of TOR signaling [GO:0032006]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H4H8-1; Sequence=Displayed; Name=2; IsoId=Q9H4H8-2; Sequence=VSP_036446; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:15561729, ECO:0000269|PubMed:18485706}. Note=Primarily cytoplasmic during interphase, but at prophase, associates with spindle microtubules, with a clear concentration toward the spindle poles. It persists on spindle microtubules through metaphase and anaphase. {ECO:0000269|PubMed:18485706}.


uniprotID: O00471
geneSymbol: EXOC5
reactome: R-HSA-1445148;R-HSA-264876;R-HSA-5620916;
name: Exocyst complex component 5 (Exocyst complex component Sec10) (hSec10)
length: 708
go: ENSG00000070367;
snps: rs35132458
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; exocyst [GO:0000145]; midbody [GO:0030496]; protein N-terminus binding [GO:0047485]; Ral GTPase binding [GO:0017160]; epithelial cell apoptotic process [GO:1904019]; establishment of planar polarity [GO:0001736]; exocytosis [GO:0006887]; Golgi to plasma membrane transport [GO:0006893]; homeostasis of number of cells within a tissue [GO:0048873]; non-motile cilium assembly [GO:1905515]; post-Golgi vesicle-mediated transport [GO:0006892]; protein localization to plasma membrane [GO:0072659]; protein transport [GO:0015031]; vesicle docking [GO:0048278]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9119050}. Midbody {ECO:0000269|PubMed:18756269}. Note=Localization at the midbody requires the presence of RALA, EXOC2 and EXOC3. {ECO:0000269|PubMed:18756269}.


uniprotID: Q96BN6
geneSymbol: FAM149B1
name: Protein FAM149B1
length: 582
go: ENSG00000138286;
snps: rs12573841
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96BN6-1; Sequence=Displayed; Name=2; IsoId=Q96BN6-2; Sequence=VSP_031533, VSP_031534; Note=No experimental confirmation available.; 


uniprotID: Q8NFI4
geneSymbol: ST13P5
name: Putative protein FAM10A5 (Suppression of tumorigenicity 13 pseudogene 5)
length: 369
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; protein dimerization activity [GO:0046983]; chaperone cofactor-dependent protein refolding [GO:0051085]


uniprotID: Q70Z53
geneSymbol: FRA10AC1
name: Protein FRA10AC1
length: 315
go: ENSG00000148690;
opentargets: nucleus [GO:0005634]
snps: rs726817 rs2275438 rs11187583
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15203205}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=FRA10AC1-1; IsoId=Q70Z53-1; Sequence=Displayed; Name=2; Synonyms=FRA10AC1-2; IsoId=Q70Z53-2; Sequence=VSP_015126, VSP_015127; Name=3; Synonyms=FRA10AC1-3.1; IsoId=Q70Z53-3; Sequence=VSP_015123; Name=4; Synonyms=FRA10AC1-3.2; IsoId=Q70Z53-4; Sequence=VSP_015125, VSP_015128; Name=5; Synonyms=FRA10AC1-3.3; IsoId=Q70Z53-5; Sequence=VSP_015124; 


uniprotID: Q4VXF1
geneSymbol: FAM74A3
name: Putative protein FAM74A3
length: 159
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MWRELRGCPGGDVETAQRLSRRRRGKSSEAVPEKTWRAQRMSQTRESSEAVPEKTWREFRGCPGEDVERAQKLRDCPGEDMETAQTLSARRRAESSEAVPEKTWRELKGCPQEDVERVQRLSLLLHLAVFLWIIIAINFSNSGVKSQSSTYLPSGKILK


uniprotID: A6NL05
geneSymbol: FAM74A7
name: Protein FAM74A7
length: 159
opentargets: integral component of membrane [GO:0016021]
snps: rs11793234 rs2261191 rs6423979
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MWRELRGCPGGDVETVQRLSRRRRGKSSEAVPEKTWRAQRMSQTRESSEAVPEKTWREFRGCPGEDVERAQRLRDCPGEDMETAQRLSARRRAESSEAVPEKTWRELKGCPQEDVERVQRLSLLLHLAVFLWIIIAINFSNSGVKSQSSTYLPSGKILK


uniprotID: Q9NV70
geneSymbol: EXOC1
reactome: R-HSA-1445148;R-HSA-264876;R-HSA-5620916;
name: Exocyst complex component 1 (Exocyst complex component Sec3)
length: 894
go: ENSG00000090989;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of apical plasma membrane [GO:0098592]; cytosol [GO:0005829]; exocyst [GO:0000145]; Flemming body [GO:0090543]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; GTP-Rho binding [GO:0017049]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; defense response to virus [GO:0051607]; exocyst localization [GO:0051601]; exocytosis [GO:0006887]; Golgi to plasma membrane transport [GO:0006893]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of protein secretion [GO:0050714]; protein transport [GO:0015031]; regulation of macroautophagy [GO:0016241]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NV70-1; Sequence=Displayed; Name=2; IsoId=Q9NV70-2; Sequence=VSP_001481; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Midbody, Midbody ring {ECO:0000269|PubMed:16213214}. Cytoplasm {ECO:0000269|PubMed:19889084}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:19889084}. Note=Colocalizes with CNTRL/centriolin at the midbody ring. {ECO:0000269|PubMed:16213214}.


uniprotID: P23610
geneSymbol: F8A1; F8A2; F8A3
pdb: 6EZ8;
name: Factor VIII intron 22 protein (CpG island protein)
length: 371
go: ENSG00000277150;ENSG00000277203;
opentargets: nucleus [GO:0005634]
sequence:


uniprotID: Q96A65
geneSymbol: EXOC4
reactome: R-HSA-1445148;R-HSA-264876;R-HSA-5620916;
name: Exocyst complex component 4 (Exocyst complex component Sec8)
length: 974
go: ENSG00000131558;
snps: rs768209201
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; exocyst [GO:0000145]; Flemming body [GO:0090543]; growth cone membrane [GO:0032584]; membrane [GO:0016020]; microvillus [GO:0005902]; myelin sheath abaxonal region [GO:0035748]; plasma membrane [GO:0005886]; synapse [GO:0045202]; PDZ domain binding [GO:0030165]; protein N-terminus binding [GO:0047485]; Ral GTPase binding [GO:0017160]; chemical synaptic transmission [GO:0007268]; exocytosis [GO:0006887]; Golgi to plasma membrane transport [GO:0006893]; paraxial mesoderm formation [GO:0048341]; protein targeting to membrane [GO:0006612]; regulation of macroautophagy [GO:0016241]; vesicle docking involved in exocytosis [GO:0006904]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96A65-1; Sequence=Displayed; Name=2; IsoId=Q96A65-2; Sequence=VSP_047159; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Midbody, Midbody ring {ECO:0000269|PubMed:16213214}. Cell projection {ECO:0000250|UniProtKB:Q62824}. Note=Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214). Localizes at the leading edge of migrating cells (By similarity). {ECO:0000250|UniProtKB:Q62824, ECO:0000269|PubMed:16213214}.


uniprotID: Q96C01
geneSymbol: FAM136A
name: Protein FAM136A
length: 138
go: ENSG00000035141;
opentargets: cytoplasm [GO:0005737]
sequence:
MAELQQLRVQEAVESMVKSLERENIRKMQGLMFRCSASCCEDSQASMKQVHQCIERCHVPLAQAQALVTSELEKFQDRLARCTMHCNDKAKDSIDAGSKELQVKQQLDSCVTKCVDDHMHLIPTMTKKMKEALLSIGK


uniprotID: O75949
geneSymbol: FAM155B
name: Transmembrane protein FAM155B (Protein TED) (Transmembrane protein 28)
length: 473
go: ENSG00000130054;
snps: rs1171942
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion import across plasma membrane [GO:0098703]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75949-1; Sequence=Displayed; Name=2; IsoId=O75949-2; Sequence=VSP_034157; Note=No experimental confirmation available.; 


uniprotID: Q86VI1
geneSymbol: EXOC3L1
name: Exocyst complex component 3-like protein (Protein Jiangli)
length: 746
go: ENSG00000179044;
snps: rs117403380 rs142958191 rs9939768 rs16957212
sequence:

opentargets:
exocyst [GO:0000145]; secretory granule [GO:0030141]; transport vesicle [GO:0030133]; SNARE binding [GO:0000149]; exocyst localization [GO:0051601]; exocytosis [GO:0006887]; peptide hormone secretion [GO:0030072]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle {ECO:0000250}. Note=Colocalizes with insulin granules. {ECO:0000250}.


uniprotID: Q17R55
geneSymbol: FAM187B
name: Protein FAM187B (Transmembrane protein 162)
length: 369
go: ENSG00000177558;
opentargets: integral component of membrane [GO:0016021]
snps: rs34873156 rs565791 rs564117
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8IVF7
geneSymbol: FMNL3
reactome: R-HSA-5663220;
length: 1028
go: ENSG00000161791;
name:
Formin-like protein 3 (Formin homology 2 domain-containing protein 3) (WW domain-binding protein 3) (WBP-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; GTPase activating protein binding [GO:0032794]; Rho GTPase binding [GO:0017048]; actin cytoskeleton organization [GO:0030036]; angiogenesis [GO:0001525]; cell migration [GO:0016477]; cytoskeleton organization [GO:0007010]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IVF7-1; Sequence=Displayed; Name=2; IsoId=Q8IVF7-2; Sequence=VSP_025892, VSP_025893; Name=3; IsoId=Q8IVF7-3; Sequence=VSP_025893; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21834987}. Cell membrane {ECO:0000269|PubMed:22275430}; Lipid-anchor {ECO:0000255}. Note=Enriched in lamellipodia.


uniprotID: A6H8Z2
geneSymbol: FAM221B
name: Protein FAM221B
length: 402
go: ENSG00000204930;
snps: rs13294256 rs13294245
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A6H8Z2-1; Sequence=Displayed; Name=2; IsoId=A6H8Z2-2; Sequence=VSP_035486, VSP_035487; Name=3; IsoId=A6H8Z2-3; Sequence=VSP_036643, VSP_036644; Note=No experimental confirmation available.; 


uniprotID: Q9UFP1
geneSymbol: FAM198A
name: Protein FAM198A
length: 575
go: ENSG00000144649;
opentargets: extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]
snps: rs2936817 rs536119
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q6P0A1
geneSymbol: FAM180B
name: Protein FAM180B
length: 224
opentargets: integral component of membrane [GO:0016021]
snps: rs4486587
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: A6NC97
geneSymbol: FAM172BP
name: Putative protein FAM172B (FAM172B pseudogene)
length: 362
opentargets: integral component of membrane [GO:0016021]; chromatin silencing by small RNA [GO:0031048]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6P4H8
geneSymbol: FAM173B
name: Protein N-lysine methyltransferase FAM173B (hFAM173B) (EC 2.1.1.-)
length: 233
go: ENSG00000150756;
snps: rs2438652 rs16884350 rs17360625 rs15757
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial crista [GO:0030061]; protein-lysine N-methyltransferase activity [GO:0016279]; peptidyl-lysine methylation [GO:0018022]; positive regulation of sensory perception of pain [GO:1904058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P4H8-1; Sequence=Displayed; Name=2; IsoId=Q6P4H8-2; Sequence=VSP_044724; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000305|PubMed:29444090}; Single-pass membrane protein {ECO:0000255}. Note=Localizes to mitochondrial cristae. {ECO:0000269|PubMed:29444090}.


uniprotID: Q8N128
geneSymbol: FAM177A1
name: Protein FAM177A1
length: 213
go: ENSG00000151327;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N128-1; Sequence=Displayed; Name=2; IsoId=Q8N128-2; Sequence=VSP_038223; 


uniprotID: Q96E09
geneSymbol: FAM122A
name: Protein FAM122A
length: 287
sequence:

opentargets:
protein serine/threonine phosphatase inhibitor activity [GO:0004865]; positive regulation of cell growth [GO:0030307]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]


uniprotID: Q15884
geneSymbol: FAM189A2
name: Protein FAM189A2 (Protein X123)
length: 450
go: ENSG00000135063;
opentargets: integral component of membrane [GO:0016021]
snps: rs35386391 rs11138396
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q15884-3; Sequence=Displayed; Name=1; IsoId=Q15884-1; Sequence=VSP_035737; Name=2; IsoId=Q15884-2; Sequence=VSP_035736, VSP_016948; 


uniprotID: Q9Y2D4
geneSymbol: EXOC6B
name: Exocyst complex component 6B (Exocyst complex component Sec15B) (SEC15-like protein 2)
length: 811
go: ENSG00000144036;
sequence:

opentargets:
exocyst [GO:0000145]; membrane [GO:0016020]; exocytosis [GO:0006887]; Golgi to plasma membrane transport [GO:0006893]; protein transport [GO:0015031]; vesicle docking involved in exocytosis [GO:0006904]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2D4-1; Sequence=Displayed; Name=2; IsoId=Q9Y2D4-2; Sequence=VSP_040838, VSP_040839; 


uniprotID: P0C866
geneSymbol: LINC00869
name: Putative uncharacterized protein encoded by LINC00869
length: 280
sequence:


uniprotID: P12259
geneSymbol: F5
reactome: R-HSA-114608;R-HSA-140875;R-HSA-204005;R-HSA-381426;R-HSA-5694530;R-HSA-8957275;
pdb: 1CZS;1CZT;1CZV;1FV4;1Y61;3P6Z;3P70;3S9C;
length: 2224
go: ENSG00000198734;
drug: DB00055;DB05777;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Coagulation factor V (Activated protein C cofactor) (Proaccelerin, labile factor) [Cleaved into: Coagulation factor V heavy chain; Coagulation factor V light chain]

sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; copper ion binding [GO:0005507]; blood circulation [GO:0008015]; blood coagulation [GO:0007596]; cellular protein metabolic process [GO:0044267]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; platelet degranulation [GO:0002576]; post-translational protein modification [GO:0043687]

snps:
rs9332485 rs6019 rs118203905 rs118203906 rs118203911 rs6033 rs6020 rs6025 rs1453479152 rs13306350 rs6031 rs6018 rs4524 rs4525 rs9332695 rs6032 rs9332604 rs9332605 rs6005 rs1046712 rs1800595 rs13306334 rs9332608 rs6007 rs6011 rs118203907 rs6034 rs6030 rs6026 rs118203910 rs9332701 rs6679078 rs6027 


uniprotID: P15036
geneSymbol: ETS2
reactome: R-HSA-2559585;
pdb: 4BQA;4MHV;
name: Protein C-ets-2
length: 469
go: ENSG00000157557;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; glucocorticoid receptor binding [GO:0035259]; protein domain specific binding [GO:0019904]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; ectodermal cell fate commitment [GO:0001712]; mesoderm development [GO:0007498]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; primitive streak formation [GO:0090009]; regulation of transcription by RNA polymerase II [GO:0006357]; skeletal system development [GO:0001501]


uniprotID: Q86V87
geneSymbol: FAM160B2
name: Protein FAM160B2 (Retinoic acid-induced protein 16)
length: 743
go: ENSG00000158863;
snps: rs35497596 rs7822461
sequence:


uniprotID: Q13868
geneSymbol: EXOSC2
reactome: R-HSA-380994;R-HSA-429958;R-HSA-450385;R-HSA-450513;R-HSA-450604;R-HSA-6791226;
pdb: 2NN6;6D6Q;6D6R;6H25;
name: Exosome complex component RRP4 (Exosome component 2) (Ribosomal RNA-processing protein 4)
length: 293
go: ENSG00000130713;
snps: rs537467155
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Nucleus.
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]; 3'-5'-exoribonuclease activity [GO:0000175]; 7S RNA binding [GO:0008312]; RNA binding [GO:0003723]; CUT catabolic process [GO:0071034]; 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 polyadenylation-dependent rRNA catabolic process [GO:0071035]; nuclear polyadenylation-dependent tRNA catabolic process [GO:0071038]; nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription [GO:0071049]; nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' [GO:0034427]; polyadenylation-dependent snoRNA 3'-end processing [GO:0071051]; positive regulation of cell growth [GO:0030307]; regulation of mRNA stability [GO:0043488]; rRNA processing [GO:0006364]; U4 snRNA 3'-end processing [GO:0034475]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13868-1; Sequence=Displayed; Name=2; IsoId=Q13868-2; Sequence=VSP_054921; Note=No experimental confirmation available.; Name=3; IsoId=Q13868-3; Sequence=VSP_057568; 


uniprotID: P78312
geneSymbol: FAM193A
name: Protein FAM193A (Protein IT14)
length: 1265
go: ENSG00000125386;
snps: rs17164077 rs17681870
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=RES4-22B; IsoId=P78312-1; Sequence=Displayed; Name=2; Synonyms=RES4-22A; IsoId=P78312-2; Sequence=VSP_014615; Name=3; Synonyms=RES4-22C; IsoId=P78312-3; Sequence=VSP_014616, VSP_014617; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=RES4-22D; IsoId=P78312-4; Sequence=VSP_014614; Name=5; IsoId=P78312-5; Sequence=VSP_045574, VSP_045575, VSP_014615; Note=No experimental confirmation available.; Name=6; IsoId=P78312-6; Sequence=VSP_014615, VSP_047163; 


uniprotID: Q71RH2
geneSymbol: FAM57B
name: Protein FAM57B
length: 274
go: ENSG00000149926;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; sphingosine N-acyltransferase activity [GO:0050291]; ceramide biosynthetic process [GO:0046513]; negative regulation of fat cell differentiation [GO:0045599]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=1; IsoId=Q71RH2-1; Sequence=Displayed; Name=2; IsoId=Q71RH2-2; Sequence=VSP_013343; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q7TNV1}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q7TNV1}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P0C7Q3
geneSymbol: FAM58BP
name: Putative cyclin-related protein FAM58B
length: 252
snps: rs12028402 rs10919847
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901409]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q8TC76
geneSymbol: FAM110B
name: Protein FAM110B
length: 370
go: ENSG00000169122;
opentargets: cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17499476}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17499476}.


uniprotID: Q5W0V3
geneSymbol: FAM160B1
name: Protein FAM160B1
length: 765
go: ENSG00000151553;
snps: rs17853717 rs3180654
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5W0V3-1; Sequence=Displayed; Name=2; IsoId=Q5W0V3-2; Sequence=VSP_024590, VSP_024591; 


uniprotID: P0CG43
geneSymbol: FAM157C
name: Putative protein FAM157C
length: 387
sequence:


uniprotID: Q49AJ0
geneSymbol: FAM135B
name: Protein FAM135B
length: 1406
go: ENSG00000147724;
opentargets: cellular lipid metabolic process [GO:0044255]
snps: rs7835830 rs57534956 rs2978180 rs35765793
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q49AJ0-1; Sequence=Displayed; Name=2; IsoId=Q49AJ0-2; Sequence=VSP_030232; Name=3; IsoId=Q49AJ0-3; Sequence=VSP_030233, VSP_030234; Name=4; IsoId=Q49AJ0-4; Sequence=VSP_030235, VSP_030236; Note=No experimental confirmation available.; 


uniprotID: Q05DH4
geneSymbol: FAM160A1
name: Protein FAM160A1
length: 1040
go: ENSG00000164142;
sequence:


uniprotID: O95466
geneSymbol: FMNL1
reactome: R-HSA-5663220;
pdb: 4YDH;
name: Formin-like protein 1 (CLL-associated antigen KW-13) (Leukocyte formin)
length: 1100
go: ENSG00000184922;
sequence:

opentargets:
bleb [GO:0032059]; cell cortex [GO:0005938]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; GTPase activating protein binding [GO:0032794]; profilin binding [GO:0005522]; Rac GTPase binding [GO:0048365]; actin filament severing [GO:0051014]; cortical actin cytoskeleton organization [GO:0030866]; regulation of cell shape [GO:0008360]; substrate-dependent cell migration [GO:0006929]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=FMNL1alpha; IsoId=O95466-1; Sequence=Displayed; Name=2; Synonyms=FMNL1beta; IsoId=O95466-2; Sequence=VSP_013977; Name=3; Synonyms=FMNL1gamma; IsoId=O95466-3; Sequence=VSP_043845; Note=Due to intron retention. Constitutively activated form, probably due to alterations in the DAD domain.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:19815554}; Lipid-anchor {ECO:0000269|PubMed:19815554}. Cytoplasmic vesicle, phagosome {ECO:0000250}. Note=Recruited to actin-rich phagosomes during phagocytosis. Translocates to the plasma membrane upon activation by RAC1 (By similarity). {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cell cortex. Cell projection, bleb. Note=Colocalized with F-actin in bleb protrusions.


uniprotID: Q96GL9
geneSymbol: FAM163A
name: Protein FAM163A (Cebelin) (Neuroblastoma-derived secretory protein)
length: 167
go: ENSG00000143340;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MTAGTVVITGGILATVILLCIIAVLCYCRLQYYCCKKSGTEVADEEEEREHDLPTHPRGPTCNACSSQALDGRGSLAPLTSEPCSQPCGVAASHCTTCSPYSSPFYIRTADMVPNGGGGERLSFAPTYYKEGGPPSLKLAAPQSYPVTWPGSGREAFTNPRAISTDV


uniprotID: Q658Y4
geneSymbol: FAM91A1
name: Protein FAM91A1
length: 838
go: ENSG00000176853;
snps: rs6470187 rs1946586
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; trans-Golgi network [GO:0005802]; intracellular protein transport [GO:0006886]; vesicle tethering to Golgi [GO:0099041]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:29084197, ECO:0000269|PubMed:29426865}. Cytoplasmic vesicle {ECO:0000269|PubMed:29426865}. Note=Recruitment to the TGN requires the presence of GOLGA1, GOLGA4 and TBC1D23. {ECO:0000269|PubMed:29084197}.


uniprotID: O43909
geneSymbol: EXTL3
reactome: R-HSA-381038;
length: 919
go: ENSG00000012232;
snps: rs116659770 rs554294508 rs1332006145 rs35781576 rs770842408 rs2269452
name:
Exostosin-like 3 (EC 2.4.1.223) (EXT-related protein 1) (Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Hereditary multiple exostoses gene isolog) (Multiple exostosis-like protein 3) (Putative tumor suppressor protein EXTL3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity [GO:0001888]; metal ion binding [GO:0046872]; transferase activity, transferring glycosyl groups [GO:0016757]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; IRE1-mediated unfolded protein response [GO:0036498]; positive regulation of cell growth [GO:0030307]; protein glycosylation [GO:0006486]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10639137}; Single-pass type II membrane protein {ECO:0000269|PubMed:10639137}. Golgi apparatus {ECO:0000269|PubMed:28132690}.


uniprotID: Q6NXP2
geneSymbol: FAM71F2
name: Protein FAM71F2 (Protein FAM137B)
length: 309
go: ENSG00000205085;
snps: rs17169357 rs6971819 rs6467210 rs1109552
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NXP2-1; Sequence=Displayed; Name=2; IsoId=Q6NXP2-2; Sequence=VSP_029581; 


uniprotID: B1ANY3
geneSymbol: FAM220BP
name: Putative protein FAM220BP (Protein FAM220B pseudogene)
length: 271
snps: rs1832322 rs1832323 rs12336220
sequence:


uniprotID: Q8NEV8
geneSymbol: EXPH5
length: 1989
name:
Exophilin-5 (Synaptotagmin-like protein homolog lacking C2 domains b) (SlaC2-b) (Slp homolog lacking C2 domains b)

sequence:

opentargets:
endosome [GO:0005768]; Rab GTPase binding [GO:0017137]; intracellular protein transport [GO:0006886]; keratinocyte development [GO:0003334]; multivesicular body sorting pathway [GO:0071985]; positive regulation of exocytosis [GO:0045921]; positive regulation of protein secretion [GO:0050714]

snps:
rs2640738 rs3741046 rs2640785 rs11212684 rs17108127 rs12146448 rs2846412 rs3741048 rs10749920 rs10890850 rs17108112 rs34012545 rs35520914 rs11828459 rs877474 rs34978242 rs35083468 rs2640779 rs35717245 rs1943382 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEV8-1; Sequence=Displayed; Name=2; IsoId=Q8NEV8-2; Sequence=VSP_007906; 


uniprotID: Q96KT0
geneSymbol: FAM167A-AS1
name: Uncharacterized protein FAM167A-AS1 (FAM167A antisense RNA 1) (FAM167A antisense gene protein 1)
length: 104
sequence:
MGRSPCFFKSFKGKLHKDRSPDPSTLASPHPSTEARRPVEAGSAEWTWGWMKRLPPASLSPGIAMSCYSGDSMLQKYKVKNAYRLHWQGREEPGASTFASLVFQ


uniprotID: Q96M60
geneSymbol: FAM227B
name: Protein FAM227B
length: 508
go: ENSG00000166262;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96M60-1; Sequence=Displayed; Name=2; IsoId=Q96M60-2; Sequence=VSP_019517, VSP_019518; 


uniprotID: P08709
geneSymbol: F7
reactome: R-HSA-1368108;R-HSA-140834;R-HSA-159740;R-HSA-159763;R-HSA-159782;
length: 466
go: ENSG00000057593;
drug: DB04590;DB07207;DB04758;DB04606;DB04593;DB07376;DB00100;DB00036;DB00170;DB04767;
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1BF9;1CVW;1DAN;1DVA;1F7E;1F7M;1FAK;1FF7;1FFM;1J9C;1JBU;1KLI;1KLJ;1NL8;1O5D;1QFK;1W0Y;1W2K;1W7X;1W8B;1WQV;1WSS;1WTG;1WUN;1WV7;1YGC;1Z6J;2A2Q;2AEI;2AER;2B7D;2B8O;2BZ6;2C4F;2EC9;2F9B;2FIR;2FLB;2FLR;2PUQ;2ZP0;2ZWL;2ZZU;3ELA;3TH2;3TH3;3TH4;4IBL;4ISH;4ISI;4JYU;4JYV;4JZD;4JZE;4JZF;4NA9;4NG9;4NGA;4X8S;4X8T;4X8U;4X8V;4YLQ;4YT6;4YT7;4Z6A;4ZMA;4ZXX;4ZXY;5I46;5L0S;5L2Y;5L2Z;5L30;5PA8;5PA9;5PAA;5PAB;5PAC;5PAE;5PAF;5PAG;5PAI;5PAJ;5PAK;5PAM;5PAN;5PAO;5PAQ;5PAR;5PAS;5PAT;5PAU;5PAV;5PAW;5PAX;5PAY;5PB0;5PB1;5PB2;5PB3;5PB4;5PB5;5PB6;5TQE;5TQF;5TQG;5U6J;

name:
Coagulation factor VII (EC 3.4.21.21) (Proconvertin) (Serum prothrombin conversion accelerator) (SPCA) (Eptacog alfa) [Cleaved into: Factor VII light chain; Factor VII heavy chain]

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; plasma membrane [GO:0005886]; serine-type peptidase complex [GO:1905286]; vesicle [GO:0031982]; calcium ion binding [GO:0005509]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; signaling receptor binding [GO:0005102]; animal organ regeneration [GO:0031100]; blood coagulation [GO:0007596]; blood coagulation, extrinsic pathway [GO:0007598]; circadian rhythm [GO:0007623]; ER to Golgi vesicle-mediated transport [GO:0006888]; positive regulation of blood coagulation [GO:0030194]; positive regulation of cell migration [GO:0030335]; positive regulation of leukocyte chemotaxis [GO:0002690]; positive regulation of platelet-derived growth factor receptor signaling pathway [GO:0010641]; positive regulation of positive chemotaxis [GO:0050927]; positive regulation of protein kinase B signaling [GO:0051897]; protein processing [GO:0016485]; response to 2,3,7,8-tetrachlorodibenzodioxine [GO:1904612]; response to astaxanthin [GO:1905217]; response to carbon dioxide [GO:0010037]; response to cholesterol [GO:0070723]; response to estradiol [GO:0032355]; response to estrogen [GO:0043627]; response to genistein [GO:0033595]; response to growth hormone [GO:0060416]; response to hypoxia [GO:0001666]; response to Thyroid stimulating hormone [GO:1904400]; response to thyrotropin-releasing hormone [GO:1905225]; response to thyroxine [GO:0097068]; response to vitamin K [GO:0032571]

snps:
rs387906507 rs45572939 rs1448296564 rs745374448 rs121964935 rs776354144 rs121964932 rs150525536 rs776796178 rs146795869 rs563972504 rs763458490 rs771335282 rs200016360 rs143855920 rs1258691292 rs764971156 rs1479693459 rs1234759020 rs372577568 rs1250204261 rs762621913 rs868044209 rs1438503836 rs121964928 rs1269916662 rs753266903 rs764807079 rs751028917 rs550074221 rs779589651 rs6045 rs770328850 rs773627551 rs121964931 rs147680958 rs121964929 rs201991361 rs778138366 rs749760143 rs146698837 rs200212201 rs139372641 rs1250853566 rs747876824 rs3093267 rs36209567 rs149283257 rs963430078 rs121964926 rs750980786 rs747673406 rs121964927 rs137919286 rs531225271 rs1215224419 rs121964938 rs121964934 rs190485816 rs748979195 rs121964936 rs6046 rs121964937 rs121964930 rs755377592 rs1450120320 rs756956471 rs758213652 rs3093248 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=P08709-1; Sequence=Displayed; Name=B; IsoId=P08709-2; Sequence=VSP_005387; 


uniprotID: C9JC47
geneSymbol: FAM157A
name: Putative protein FAM157A
length: 383
sequence:


uniprotID: P0CG42
geneSymbol: FAM157B
name: Putative protein FAM157B
length: 384
sequence:


uniprotID: Q9NZB2
geneSymbol: FAM120A
length: 1118
go: ENSG00000048828;
snps: rs11541747
name:
Constitutive coactivator of PPAR-gamma-like protein 1 (Oxidative stress-associated Src activator) (Protein FAM120A)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=A; IsoId=Q9NZB2-1; Sequence=Displayed; Name=B; IsoId=Q9NZB2-2; Sequence=VSP_004147, VSP_004148; Name=D; IsoId=Q9NZB2-4; Sequence=VSP_017280; Name=E; IsoId=Q9NZB2-5; Sequence=VSP_017278, VSP_017279; Name=F; IsoId=Q9NZB2-6; Sequence=VSP_036324; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19015244}. Cell membrane {ECO:0000269|PubMed:19015244}; Peripheral membrane protein {ECO:0000269|PubMed:19015244}; Cytoplasmic side {ECO:0000269|PubMed:19015244}. Note=Translocates to plasma membrane upon ultraviolet exposure.


uniprotID: P00488
geneSymbol: F13A1
reactome: R-HSA-114608;R-HSA-140875;R-HSA-6785807;
pdb: 1EVU;1EX0;1F13;1FIE;1GGT;1GGU;1GGY;1QRK;4KTY;5MHL;5MHM;5MHN;5MHO;
length: 732
drug: DB00130;DB02340;
snps: rs5985 rs759324596 rs3024477 rs5984 rs5982 rs5983 rs17852475 rs5987 rs5988
name:
Coagulation factor XIII A chain (Coagulation factor XIIIa) (EC 2.3.2.13) (Protein-glutamine gamma-glutamyltransferase A chain) (Transglutaminase A chain)

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; platelet alpha granule lumen [GO:0031093]; metal ion binding [GO:0046872]; protein-glutamine gamma-glutamyltransferase activity [GO:0003810]; blood coagulation [GO:0007596]; blood coagulation, fibrin clot formation [GO:0072378]; cytokine-mediated signaling pathway [GO:0019221]; peptide cross-linking [GO:0018149]; platelet degranulation [GO:0002576]

location:
SUBCELLULAR LOCATION: Cytoplasm. Secreted {ECO:0000269|PubMed:4405643}. Note=Secreted into the blood plasma. Cytoplasmic in most tissues, but also secreted in the blood plasma.


uniprotID: Q5T6X4
geneSymbol: FAM162B
name: Protein FAM162B
length: 162
go: ENSG00000183807;
opentargets: integral component of membrane [GO:0016021]
snps: rs654128
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MLRAVGSLLRLGRGLTVRCGPGAPLEATRRPAPALPPRGLPCYSSGGAPSNSGPQGHGEIHRVPTQRRPSQFDKKILLWTGRFKSMEEIPPRIPPEMIDTARNKARVKACYIMIGLTIIACFAVIVSAKRAVERHESLTSWNLAKKAKWREEAALAAQAKAK


uniprotID: Q7Z309
geneSymbol: FAM122B
name: Protein FAM122B
length: 247
go: ENSG00000156504;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7Z309-1; Sequence=Displayed; Name=2; IsoId=Q7Z309-2; Sequence=VSP_021217; Name=3; IsoId=Q7Z309-3; Sequence=VSP_021216; Name=4; IsoId=Q7Z309-4; Sequence=VSP_021216, VSP_021218; Name=5; IsoId=Q7Z309-5; Sequence=VSP_021215, VSP_021217, VSP_021218; Note=No experimental confirmation available.; 


uniprotID: Q9UQ84
geneSymbol: EXO1
pdb: 3QE9;3QEA;3QEB;5UZV;5V04;5V05;5V06;5V07;5V08;5V09;5V0A;5V0B;5V0C;5V0D;5V0E;
name: Exonuclease 1 (hExo1) (EC 3.1.-.-) (Exonuclease I) (hExoI)
length: 846
go: ENSG00000174371;
reactome:
R-HSA-5358565;R-HSA-5358606;R-HSA-5685938;R-HSA-5685942;R-HSA-5693554;R-HSA-5693568;R-HSA-5693579;R-HSA-5693607;R-HSA-5693616;R-HSA-6804756;R-HSA-69473;

sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 5'-3' exodeoxyribonuclease activity [GO:0035312]; 5'-3' exonuclease activity [GO:0008409]; 5'-flap endonuclease activity [GO:0017108]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; double-stranded DNA 5'-3' exodeoxyribonuclease activity [GO:0051908]; double-stranded DNA binding [GO:0003690]; exonuclease activity [GO:0004527]; flap endonuclease activity [GO:0048256]; metal ion binding [GO:0046872]; RNA-DNA hybrid ribonuclease activity [GO:0004523]; single-stranded DNA 5'-3' exodeoxyribonuclease activity [GO:0045145]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; isotype switching [GO:0045190]; meiotic DNA double-strand break processing [GO:0000706]; mismatch repair [GO:0006298]; somatic hypermutation of immunoglobulin genes [GO:0016446]; t-circle formation [GO:0090656]

snps:
rs4149864 rs4149865 rs143546023 rs147663824 rs4149909 rs4149910 rs735943 rs571928768 rs4149962 rs4149963 rs4149964 rs4149965 rs4149966 rs4149967 rs1047840 rs12122770 rs4149978 rs61736331 rs61736331 rs1776148 rs1635498 rs9350 rs4150001 rs200622305 rs145975455 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=B; IsoId=Q9UQ84-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q9UQ84-4; Sequence=VSP_017029, VSP_017030; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11429708, ECO:0000269|PubMed:14676842, ECO:0000269|PubMed:17426132}. Note=Colocalizes with PCNA to discrete nuclear foci in S-phase.


uniprotID: Q16394
geneSymbol: EXT1
reactome: R-HSA-2022928;R-HSA-3656237;R-HSA-3656253;
length: 746
go: ENSG00000182197;
snps: rs119103288 rs119103290 rs119103287 rs119103287 rs188859975
name:
Exostosin-1 (EC 2.4.1.224) (EC 2.4.1.225) (Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Multiple exostoses protein 1) (Putative tumor suppressor protein EXT1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; acetylglucosaminyltransferase activity [GO:0008375]; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity [GO:0050508]; glucuronosyltransferase activity [GO:0015020]; heparan sulfate N-acetylglucosaminyltransferase activity [GO:0042328]; metal ion binding [GO:0046872]; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity [GO:0050509]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; transferase activity, transferring glycosyl groups [GO:0016757]; axon guidance [GO:0007411]; cellular polysaccharide biosynthetic process [GO:0033692]; embryonic skeletal joint development [GO:0072498]; endoderm development [GO:0007492]; gastrulation [GO:0007369]; glycosaminoglycan biosynthetic process [GO:0006024]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process [GO:0015014]; mesoderm development [GO:0007498]; olfactory bulb development [GO:0021772]; ossification [GO:0001503]; protein glycosylation [GO:0006486]; signal transduction [GO:0007165]; skeletal system development [GO:0001501]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269|PubMed:10679296}. Golgi apparatus membrane {ECO:0000269|PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269|PubMed:10679296}. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.


uniprotID: Q3ZCQ3
geneSymbol: FAM174B
name: Membrane protein FAM174B
length: 159
go: ENSG00000185442;
opentargets: integral component of membrane [GO:0016021]
snps: rs34052034
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MRAVPLPAPLLPLLLLALLAAPAARASRAESVSAPWPEPERESRPPPGPGPGNTTRFGSGAAGGSGSSSSNSSGDALVTRISILLRDLPTLKAAVIVAFAFTTLLIACLLLRVFRSGKRLKKTRKYDIITTPAERVEMAPLNEEDDEDEDSTVFDIKYR


uniprotID: P15311
geneSymbol: EZR
reactome: R-HSA-373752;R-HSA-437239;
pdb: 1NI2;4RM8;4RM9;4RMA;
name: Ezrin (Cytovillin) (Villin-2) (p81)
length: 586
go: ENSG00000092820;
snps: rs3103004 rs2230143
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; astrocyte projection [GO:0097449]; basolateral plasma membrane [GO:0016323]; brush border [GO:0005903]; cell body [GO:0044297]; cell periphery [GO:0071944]; cell projection [GO:0042995]; cell tip [GO:0051286]; ciliary basal body [GO:0036064]; cortical cytoskeleton [GO:0030863]; cytoplasm [GO:0005737]; cytoplasmic side of apical plasma membrane [GO:0098592]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; extrinsic component of membrane [GO:0019898]; fibrillar center [GO:0001650]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; immunological synapse [GO:0001772]; invadopodium [GO:0071437]; membrane [GO:0016020]; microspike [GO:0044393]; microvillus [GO:0005902]; microvillus membrane [GO:0031528]; myelin sheath [GO:0043209]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; protein-containing complex [GO:0032991]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; Schwann cell microvillus [GO:0097454]; T-tubule [GO:0030315]; uropod [GO:0001931]; vesicle [GO:0031982]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; ATPase binding [GO:0051117]; cadherin binding [GO:0045296]; cell adhesion molecule binding [GO:0050839]; disordered domain specific binding [GO:0097718]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein kinase A binding [GO:0051018]; protein kinase A catalytic subunit binding [GO:0034236]; protein kinase A regulatory subunit binding [GO:0034237]; RNA binding [GO:0003723]; S100 protein binding [GO:0044548]; actin cytoskeleton reorganization [GO:0031532]; actin filament bundle assembly [GO:0051017]; astral microtubule organization [GO:0030953]; axon guidance [GO:0007411]; cellular protein-containing complex localization [GO:0034629]; cellular response to cAMP [GO:0071320]; cortical microtubule organization [GO:0043622]; cytoskeletal anchoring at plasma membrane [GO:0007016]; establishment of centrosome localization [GO:0051660]; establishment of endothelial barrier [GO:0061028]; establishment or maintenance of apical/basal cell polarity [GO:0035088]; filopodium assembly [GO:0046847]; intestinal D-glucose absorption [GO:0001951]; leukocyte cell-cell adhesion [GO:0007159]; membrane to membrane docking [GO:0022614]; microvillus assembly [GO:0030033]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of interleukin-2 secretion [GO:1900041]; negative regulation of p38MAPK cascade [GO:1903753]; negative regulation of T cell receptor signaling pathway [GO:0050860]; negative regulation of transcription by RNA polymerase II [GO:0000122]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of cellular protein catabolic process [GO:1903364]; positive regulation of early endosome to late endosome transport [GO:2000643]; positive regulation of gene expression [GO:0010628]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of protein localization to early endosome [GO:1902966]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of protein secretion [GO:0050714]; protein kinase A signaling [GO:0010737]; protein localization to cell cortex [GO:0072697]; protein localization to plasma membrane [GO:0072659]; receptor internalization [GO:0031623]; regulation of cell shape [GO:0008360]; regulation of microvillus length [GO:0032532]; regulation of organelle assembly [GO:1902115]; sphingosine-1-phosphate receptor signaling pathway [GO:0003376]; terminal web assembly [GO:1902896]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:18046454}; Peripheral membrane protein {ECO:0000269|PubMed:18046454}; Cytoplasmic side {ECO:0000269|PubMed:18046454}. Cell projection {ECO:0000269|PubMed:18046454}. Cell projection, microvillus membrane {ECO:0000269|PubMed:18046454}; Peripheral membrane protein {ECO:0000269|PubMed:18046454}; Cytoplasmic side {ECO:0000269|PubMed:18046454}. Cell projection, ruffle membrane {ECO:0000269|PubMed:18046454}; Peripheral membrane protein {ECO:0000269|PubMed:18046454}; Cytoplasmic side {ECO:0000269|PubMed:18046454}. Cytoplasm, cell cortex {ECO:0000269|PubMed:18046454}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18046454}. Cell projection, microvillus {ECO:0000250|UniProtKB:P26040}. Note=Localization to the apical membrane of parietal cells depends on the interaction with MPP5. Localizes to cell extensions and peripheral processes of astrocytes (By similarity). Microvillar peripheral membrane protein (cytoplasmic side). {ECO:0000250|UniProtKB:P31977}.


uniprotID: Q6P995
geneSymbol: FAM171B
name: Protein FAM171B
length: 826
go: ENSG00000144369;
opentargets: integral component of membrane [GO:0016021]
snps: rs17855085
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P995-1; Sequence=Displayed; Name=2; IsoId=Q6P995-2; Sequence=VSP_040122, VSP_040123; 


uniprotID: A2RU67
geneSymbol: FAM234B
name: Protein FAM234B
length: 622
go: ENSG00000084444;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8TC56
geneSymbol: FAM71B
name: Protein FAM71B
length: 605
go: ENSG00000170613;
opentargets: nucleus [GO:0005634]
snps: rs17852327 rs31208 rs2115480
sequence:

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17103222}. Note=Cajal body and speckle localization.


uniprotID: A6ND36
geneSymbol: FAM83G
name: Protein FAM83G (Protein associated with SMAD1)
length: 823
go: ENSG00000188522;
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]; BMP signaling pathway [GO:0030509]
snps: rs371100508 rs2074283 rs201046878
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6ND36-1; Sequence=Displayed; Name=2; IsoId=A6ND36-2; Sequence=VSP_033120, VSP_033121, VSP_033122, VSP_033123; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:24554596}. Nucleus {ECO:0000269|PubMed:24554596}. Note=Detected predominantly in cytosolic. Upon BMP stimulation, a small portion of PAWS1 is detected in the nucleus. {ECO:0000269|PubMed:24554596}.


uniprotID: Q6ZRV2
geneSymbol: FAM83H
name: Protein FAM83H
length: 1179
go: ENSG00000180921;
snps: rs9969600 rs312262803
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; keratin filament binding [GO:1990254]; protein kinase binding [GO:0019901]; biomineral tissue development [GO:0031214]; intermediate filament cytoskeleton organization [GO:0045104]; positive regulation of cell migration [GO:0030335]; protein localization to cytoskeleton [GO:0044380]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:23902688}. Note=Colocalizes with keratin filaments. {ECO:0000269|PubMed:23902688}.


uniprotID: Q5HYJ3
geneSymbol: FAM76B
name: Protein FAM76B
length: 339
go: ENSG00000077458;
opentargets: nuclear speck [GO:0016607]
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:19266028}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5HYJ3-1; Sequence=Displayed; Name=2; IsoId=Q5HYJ3-2; Sequence=VSP_022679, VSP_022680; Name=3; IsoId=Q5HYJ3-3; Sequence=VSP_057354; Note=No experimental confirmation available.; 


uniprotID: P00451
geneSymbol: F8
reactome: R-HSA-114608;R-HSA-140837;R-HSA-140875;R-HSA-204005;R-HSA-5694530;
pdb: 1CFG;1D7P;1FAC;1IQD;2R7E;3CDZ;3HNB;3HNY;3HOB;3J2Q;3J2S;4BDV;4KI5;4PT6;4XZU;5K8D;
length: 2351
go: ENSG00000185010;
drug: DB00100;DB00055;
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
name:
Coagulation factor VIII (Antihemophilic factor) (AHF) (Procoagulant component) [Cleaved into: Factor VIIIa heavy chain, 200 kDa isoform; Factor VIIIa heavy chain, 92 kDa isoform; Factor VIII B chain; Factor VIIIa light chain]

sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; copper ion binding [GO:0005507]; oxidoreductase activity [GO:0016491]; acute-phase response [GO:0006953]; blood coagulation [GO:0007596]; blood coagulation, intrinsic pathway [GO:0007597]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; platelet activation [GO:0030168]; platelet degranulation [GO:0002576]

snps:
rs137852377 rs137852378 rs137852476 rs137852379 rs1800288 rs781974394 rs137852380 rs137852381 rs137852382 rs137852383 rs137852384 rs137852385 rs782481755 rs137852386 rs137852387 rs137852388 rs137852389 rs137852390 rs137852391 rs1388356765 rs137852392 rs137852393 rs137852394 rs137852395 rs137852367 rs1341730743 rs137852475 rs137852396 rs137852397 rs1464962436 rs137852398 rs1208703993 rs34371500 rs137852399 rs137852400 rs137852359 rs137852401 rs137852402 rs137852403 rs137852403 rs137852404 rs137852405 rs137852406 rs137852407 rs781954986 rs137852371 rs137852370 rs137852410 rs375241473 rs137852364 rs28935499 rs28933668 rs28933669 rs28933670 rs28933671 rs28933672 rs1362305882 rs28937272 rs111033616 rs1345538633 rs782485864 rs137852412 rs137852411 rs137852413 rs137852414 rs35383156 rs139526001 rs137852415 rs137852416 rs137852417 rs137852417 rs137852418 rs137852419 rs137852420 rs782193428 rs28937282 rs782657516 rs137852422 rs1354815715 rs137852376 rs137852423 rs137852425 rs137852426 rs137852427 rs1253524555 rs137852428 rs137852429 rs137852430 rs137852431 rs137852433 rs137852434 rs137852435 rs1218576358 rs137852436 rs1485277601 rs28937285 rs2228152 rs782318401 rs28933673 rs1800291 rs1800292 rs1800294 rs782127226 rs28935203 rs111033613 rs111033614 rs137852439 rs137852373 rs137852362 rs151202877 rs137852440 rs137852441 rs28937287 rs28937289 rs137852375 rs137852443 rs137852443 rs137852442 rs137852444 rs137852445 rs28933674 rs28933675 rs28933676 rs28933677 rs28933678 rs28933678 rs28933679 rs28933680 rs28933681 rs1364158178 rs137852369 rs28933682 rs28937294 rs28937294 rs111033615 rs137852450 rs137852451 rs1490417405 rs137852453 rs1406262850 rs369414658 rs137852454 rs137852455 rs1348849974 rs137852456 rs137852457 rs137852458 rs137852459 rs137852366 rs137852460 rs1450770782 rs782641941 rs137852461 rs137852462 rs137852463 rs137852464 rs137852465 rs137852465 rs137852467 rs137852466 rs137852365 rs782098979 rs137852468 rs782548763 rs137852355 rs137852358 rs137852358 rs782654096 rs137852469 rs782479558 rs1800297 rs137852470 rs782717799 rs137852472 rs137852374 rs137852473 rs137852474 rs137852360 rs137852360 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00451-1; Sequence=Displayed; Name=2; Synonyms=F8B; IsoId=P00451-2; Sequence=VSP_042656, VSP_042657; 


uniprotID: P51161
geneSymbol: FABP6
reactome: R-HSA-159418;R-HSA-163560;
pdb: 1O1U;1O1V;2MM3;5L8I;5L8N;5L8O;
length: 128
go: ENSG00000170231;
drug: DB02659;DB02691;DB04348;
snps: rs17856662 rs17852045 rs1130435
name:
Gastrotropin (GT) (Fatty acid-binding protein 6) (Ileal lipid-binding protein) (ILBP) (Intestinal 15 kDa protein) (I-15P) (Intestinal bile acid-binding protein) (I-BABP)

sequence:
MAFTGKFEMESEKNYDEFMKLLGISSDVIEKARNFKIVTEVQQDGQDFTWSQHYSGGHTMTNKFTVGKESNIQTMGGKTFKATVQMEGGKLVVNFPNYHQTSEIVGDKLVEVSTIGGVTYERVSKRLA

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; bile acid binding [GO:0032052]; lipid binding [GO:0008289]; lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]; negative regulation of cell proliferation [GO:0008285]; triglyceride catabolic process [GO:0019433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=1; IsoId=P51161-1; Sequence=Displayed; Name=2; Synonyms=IBABP-L; IsoId=P51161-2; Sequence=VSP_038039; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000250|UniProtKB:P80020}. Membrane; Peripheral membrane protein {ECO:0000250|UniProtKB:P50119}; Cytoplasmic side {ECO:0000250|UniProtKB:P50119}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:17909007}. Note=Localized close to nucleus on the apical side of both normal and neoplastic cells. {ECO:0000269|PubMed:17909007}.


uniprotID: Q9UBQ6
geneSymbol: EXTL2
reactome: R-HSA-381038;
length: 330
go: ENSG00000162694;
drug: DB03435;DB02196;DB03397;
name:
Exostosin-like 2 (EC 2.4.1.223) (Alpha-1,4-N-acetylhexosaminyltransferase EXTL2) (Alpha-GalNAcT EXTL2) (EXT-related protein 2) (Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) [Cleaved into: Processed exostosin-like 2]

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; alpha-1,4-N-acetylgalactosaminyltransferase activity [GO:0035248]; glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity [GO:0001888]; glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity [GO:0047237]; glycosaminoglycan binding [GO:0005539]; manganese ion binding [GO:0030145]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; IRE1-mediated unfolded protein response [GO:0036498]; N-acetylglucosamine metabolic process [GO:0006044]; protein glycosylation [GO:0006486]; UDP-N-acetylgalactosamine metabolic process [GO:0019276]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Processed exostosin-like 2: Secreted. Note=A soluble form is found in the serum.


uniprotID: Q8NB25
geneSymbol: FAM184A
name: Protein FAM184A
length: 1140
go: ENSG00000111879;
opentargets: extracellular space [GO:0005615]
snps: rs34681930 rs34977570 rs17827619
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NB25-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8NB25-2; Sequence=VSP_007446, VSP_007447; Note=No experimental confirmation available.; Name=3; IsoId=Q8NB25-3; Sequence=VSP_039102, VSP_039103; Name=4; IsoId=Q8NB25-4; Sequence=VSP_044520, VSP_007446; Note=No experimental confirmation available.; 


uniprotID: Q96AQ9
geneSymbol: FAM131C
name: Protein FAM131C
length: 280
go: ENSG00000185519;
snps: rs2863458 rs71510977 rs11576236 rs1832151 rs17853749
sequence:


uniprotID: P00740
geneSymbol: F9
reactome: R-HSA-140834;R-HSA-140837;R-HSA-159740;R-HSA-159763;R-HSA-159782;
length: 461
go: ENSG00000101981;
drug: DB00025;DB13150;DB00170;DB05131;
pdb:
1CFH;1CFI;1EDM;1IXA;1MGX;1NL0;1RFN;2WPH;2WPI;2WPJ;2WPK;2WPL;2WPM;3KCG;3LC3;3LC5;4WM0;4WMA;4WMB;4WMI;4WMK;4WN2;4WNH;4YZU;4Z0K;4ZAE;5EGM;5F84;5F85;5F86;5JB8;5JB9;5JBA;5JBB;5JBC;5TNO;5TNT;5VYG;

name:
Coagulation factor IX (EC 3.4.21.22) (Christmas factor) (Plasma thromboplastin component) (PTC) [Cleaved into: Coagulation factor IXa light chain; Coagulation factor IXa heavy chain]

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; endopeptidase activity [GO:0004175]; serine-type endopeptidase activity [GO:0004252]; blood coagulation [GO:0007596]; blood coagulation, intrinsic pathway [GO:0007597]; ER to Golgi vesicle-mediated transport [GO:0006888]; proteolysis [GO:0006508]; zymogen activation [GO:0031638]

snps:
rs150190385 rs387906481 rs367569299 rs1275708479 rs137852225 rs137852226 rs137852228 rs137852229 rs137852230 rs137852231 rs137852233 rs137852274 rs1330705989 rs137852237 rs137852238 rs6048 rs137852241 rs137852240 rs137852242 rs137852243 rs137852243 rs1182648920 rs267606792 rs137852246 rs137852247 rs137852279 rs137852249 rs137852251 rs1222227572 rs137852254 rs137852275 rs137852257 rs137852259 rs137852283 rs137852273 rs137852281 rs137852278 rs137852277 rs137852276 rs1233706534 rs1306658513 rs137852265 rs137852280 rs767828752 rs137852266 rs137852267 rs137852268 rs143018900 rs757996262 rs137852269 rs4149751 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00740-1; Sequence=Displayed; Name=2; IsoId=P00740-2; Sequence=VSP_047689; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19846852, ECO:0000269|PubMed:2592373, ECO:0000269|PubMed:3857619, ECO:0000269|PubMed:8295821, ECO:0000269|PubMed:9169594}.


uniprotID: Q5TYM5
geneSymbol: FAM72A
name: Protein FAM72A (Latent membrane protein 1-induced protein) (LMP1-induced protein) (LMPIP)
length: 149
go: ENSG00000196550;
sequence:
MSTNICSFKDRCVSILCCKFCKQVLSSRGMKAVLLADTEIDLFSTDIPPTNAVDFTGRCYFTKICKCKLKDIACLKCGNIVGYHVIVPCSSCLLSCNNGHFWMFHSQAVYDINRLDSTGVNVLLWGNLPEIEESTDEDVLNISAEECIR

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; mitochondrion [GO:0005739]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Ugene-p; IsoId=Q5TYM5-1; Sequence=Displayed; Name=2; IsoId=Q5TYM5-2; Sequence=VSP_034205; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion. Note=A V5 epitope-tagged construct has been shown to localize to the nucleus (PubMed:18676834). 5-7% of total FAM72A is associated with mitochondria around the nucleus in HEK293 cells (PubMed:21317926). {ECO:0000269|PubMed:18676834, ECO:0000269|PubMed:21317926}.


uniprotID: Q6ZV65
geneSymbol: FAM47E
name: Protein FAM47E
length: 393
go: ENSG00000189157;ENSG00000272414;
opentargets: cytoplasm [GO:0005737]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZV65-3; Sequence=Displayed; Name=2; IsoId=Q6ZV65-2; Sequence=VSP_040931, VSP_040932, VSP_040933; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZV65-1; Sequence=VSP_040934; 


uniprotID: Q9Y247
geneSymbol: FAM50B
name: Protein FAM50B (Protein XAP-5-like)
length: 325
go: ENSG00000145945;
opentargets: intercellular bridge [GO:0045171]; nucleoplasm [GO:0005654]
sequence:


uniprotID: Q5T9C2
geneSymbol: FAM102A
name: Protein FAM102A (Early estrogen-induced gene 1 protein)
length: 384
go: ENSG00000167106;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T9C2-1; Sequence=Displayed; Name=2; IsoId=Q5T9C2-2; Sequence=VSP_021744; Note=No experimental confirmation available.; Name=3; IsoId=Q5T9C2-3; Sequence=VSP_043857; 


uniprotID: Q9Y3B2
geneSymbol: EXOSC1
reactome: R-HSA-380994;R-HSA-429958;R-HSA-450385;R-HSA-450513;R-HSA-450604;R-HSA-6791226;
pdb: 2NN6;6D6Q;6D6R;6H25;
name: Exosome complex component CSL4 (Exosome component 1)
length: 195
go: ENSG00000171311;
sequence:
MAPPVRYCIPGERLCNLEEGSPGSGTYTRHGYIFSSLAGCLMKSSENGALPVVSVVRETESQLLPDVGAIVTCKVSSINSRFAKVHILYVGSMPLKNSFRGTIRKEDVRATEKDKVEIYKSFRPGDIVLAKVISLGDAQSNYLLTTAENELGVVVAHSESGIQMVPISWCEMQCPKTHTKEFRKVARVQPEFLQT

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; exosome (RNase complex) [GO:0000178]; nuclear exosome (RNase complex) [GO:0000176]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; regulation of mRNA stability [GO:0043488]; RNA phosphodiester bond hydrolysis, exonucleolytic [GO:0090503]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11812149}. Nucleus {ECO:0000305|PubMed:11812149}. Cytoplasm {ECO:0000305|PubMed:11812149}.


uniprotID: O95990
geneSymbol: FAM107A
name: Actin-associated protein FAM107A (Down-regulated in renal cell carcinoma 1) (Protein TU3A)
length: 144
go: ENSG00000168309;
snps: rs1043942 rs11539086
sequence:
MYSEIQRERADIGGLMARPEYREWNPELIKPKKLLNPVKASRSHQELHRELLMNHRRGLGVDSKPELQRVLEHRRRNQLIKKKKEELEAKRLQCPFEQELLRRQQRLNQLEKPPEKEEDHAPEFIKVRENLRRIATLTSEEREL

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; neuron projection [GO:0043005]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; ruffle membrane [GO:0032587]; stress fiber [GO:0001725]; synapse [GO:0045202]; actin binding [GO:0003779]; actin filament bundle assembly [GO:0051017]; actin filament polymerization [GO:0030041]; cell cycle [GO:0007049]; cellular response to glucocorticoid stimulus [GO:0071385]; cellular response to nutrient levels [GO:0031669]; cognition [GO:0050890]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of long-term synaptic potentiation [GO:1900272]; positive regulation of cell migration [GO:0030335]; positive regulation of protein ubiquitination [GO:0031398]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell growth [GO:0001558]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of protein stability [GO:0031647]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O95990-1; Sequence=Displayed; Name=2; IsoId=O95990-2; Sequence=VSP_009232; Note=May be due to an intron retention. No experimental confirmation available.; Name=3; IsoId=O95990-3; Sequence=VSP_054803; Name=4; IsoId=O95990-4; Sequence=VSP_054804; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10564580, ECO:0000269|PubMed:11256614, ECO:0000269|PubMed:20543869, ECO:0000269|PubMed:28604741}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:20543869, ECO:0000269|PubMed:28604741}. Cell junction, focal adhesion {ECO:0000269|PubMed:20543869}. Cell projection, ruffle membrane {ECO:0000269|PubMed:20543869}. Cell junction, synapse {ECO:0000250|UniProtKB:Q78TU8}. Note=Colocalizes with F-actin and COMMD1 in the nucleus (PubMed:28604741). Colocalizes with MAP1A along actin stress fibers and membrane ruffles (PubMed:20543869). {ECO:0000269|PubMed:20543869, ECO:0000269|PubMed:28604741}.


uniprotID: Q8IWN6
geneSymbol: FAM223A
name: Protein FAM223A (SPCX)
length: 122
sequence:
MYVQEHRLWGLMDKPHSAPCLMSLSLSFLICNKGRNAIRVQQSTDERMDAMLLWQCPTQGTRKNHESNSSLHHVPNWIFHSTIIPPNKGSKRCLRKVDWLLPRAGGVGGKRGVTADGDRVSF


uniprotID: Q6ZTR7
geneSymbol: FAM92B
name: Protein FAM92B
length: 304
go: ENSG00000153789;
opentargets: cell projection [GO:0042995]; centriole [GO:0005814]; cell projection organization [GO:0030030]
snps: rs9934891
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q3V2J0}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q3V2J0}. Note=Extensive colocalization with CBY1 at mother centrioles. {ECO:0000250|UniProtKB:Q3V2J0}.


uniprotID: Q7L5A3
geneSymbol: FAM214B
name: Protein FAM214B
length: 538
go: ENSG00000005238;
opentargets: nucleus [GO:0005634]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7L5A3-1; Sequence=Displayed; Name=2; IsoId=Q7L5A3-2; Sequence=VSP_030063; Name=3; IsoId=Q7L5A3-3; Sequence=VSP_042437; Note=No experimental confirmation available.; 


uniprotID: Q15024
geneSymbol: EXOSC7
reactome: R-HSA-380994;R-HSA-429958;R-HSA-450385;R-HSA-450513;R-HSA-450604;R-HSA-6791226;
pdb: 2NN6;6D6Q;6D6R;6H25;
name: Exosome complex component RRP42 (Exosome component 7) (Ribosomal RNA-processing protein 42) (p8)
length: 291
go: ENSG00000075914;
snps: rs34512144 rs6794
sequence:

opentargets:
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]; 3'-5'-exoribonuclease activity [GO:0000175]; AU-rich element binding [GO:0017091]; RNA binding [GO:0003723]; 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]; RNA catabolic process [GO:0006401]; 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: Nucleus, nucleolus {ECO:0000269|PubMed:11812149}. Cytoplasm {ECO:0000305|PubMed:11812149}. Nucleus {ECO:0000305|PubMed:11812149}.


uniprotID: P0CF97
geneSymbol: FAM200B
name: Protein FAM200B
length: 657
go: ENSG00000237765;
opentargets: nucleoplasm [GO:0005654]
sequence:


uniprotID: A6NE01
geneSymbol: FAM186A
name: Protein FAM186A
length: 2351
go: ENSG00000185958;
snps: rs12303082 rs10876024 rs10876023 rs7296291 rs6580742 rs6580741 rs12809349
sequence:


uniprotID: Q2M2I3
geneSymbol: FAM83E
name: Protein FAM83E
length: 478
go: ENSG00000105523;
opentargets: protein kinase binding [GO:0019901]
snps: rs447802 rs3745728 rs3745727
sequence:


uniprotID: Q8IXL6
geneSymbol: FAM20C
reactome: R-HSA-381426;R-HSA-8957275;
pdb: 5YH3;
length: 584
go: ENSG00000177706;
snps: rs778899041 rs779708323 rs797044462 rs796051852 rs796051849 rs796051850
name:
Extracellular serine/threonine protein kinase FAM20C (EC 2.7.11.1) (Dentin matrix protein 4) (DMP-4) (Golgi casein kinase) (Golgi-enriched fraction casein kinase) (GEF-CK)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; manganese ion binding [GO:0030145]; phosphotransferase activity, alcohol group as acceptor [GO:0016773]; protein serine/threonine kinase activity [GO:0004674]; ATP metabolic process [GO:0046034]; biomineral tissue development [GO:0031214]; cellular protein metabolic process [GO:0044267]; dentinogenesis [GO:0097187]; enamel mineralization [GO:0070166]; odontoblast differentiation [GO:0071895]; osteoclast maturation [GO:0036179]; positive regulation of bone mineralization [GO:0030501]; positive regulation of osteoblast differentiation [GO:0045669]; post-translational protein modification [GO:0043687]; protein phosphorylation [GO:0006468]; regulation of fibroblast growth factor receptor signaling pathway [GO:0040036]; regulation of phosphorus metabolic process [GO:0051174]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXL6-1; Sequence=Displayed; Name=2; IsoId=Q8IXL6-2; Sequence=VSP_040834; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:26091039}. Golgi apparatus {ECO:0000250|UniProtKB:Q5MJS3}.


uniprotID: P07148
geneSymbol: FABP1
reactome: R-HSA-163560;R-HSA-1989781;R-HSA-400206;
pdb: 2F73;2L67;2L68;2LKK;2PY1;3B2H;3B2I;3B2J;3B2K;3B2L;3STK;3STM;3STN;3VG2;3VG3;3VG4;3VG5;3VG6;3VG7;
length: 127
go: ENSG00000163586;
drug: DB02074;DB02659;DB04224;DB02216;
snps: rs1801273 rs2241883
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Fatty acid-binding protein, liver (Fatty acid-binding protein 1) (Liver-type fatty acid-binding protein) (L-FABP)

sequence:
MSFSGKYQLQSQENFEAFMKAIGLPEELIQKGKDIKGVSEIVQNGKHFKFTITAGSKVIQNEFTVGEECELETMTGEKVKTVVQLEGDNKLVTTFKNIKSVTELNGDIITNTMTLGDIVFKRISKRI

opentargets:
apical cortex [GO:0045179]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; peroxisomal matrix [GO:0005782]; protein-containing complex [GO:0032991]; antioxidant activity [GO:0016209]; bile acid binding [GO:0032052]; chromatin binding [GO:0003682]; drug binding [GO:0008144]; fatty acid binding [GO:0005504]; long-chain fatty acid transporter activity [GO:0005324]; phospholipid binding [GO:0005543]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to hypoxia [GO:0071456]; intestinal absorption [GO:0050892]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; positive regulation of fatty acid beta-oxidation [GO:0032000]; positive regulation of hydrolase activity [GO:0051345]; regulation of lipid metabolic process [GO:0019216]; triglyceride catabolic process [GO:0019433]


uniprotID: P41161
geneSymbol: ETV5
pdb: 4UNO;5ILV;
name: ETS translocation variant 5 (Ets-related protein ERM)
length: 510
go: ENSG00000244405;
snps: rs2228269
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 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]; transcription regulatory region DNA binding [GO:0044212]; cell differentiation [GO:0030154]; cellular response to oxidative stress [GO:0034599]; locomotory behavior [GO:0007626]; male germ-line stem cell asymmetric division [GO:0048133]; neuromuscular synaptic transmission [GO:0007274]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of branching involved in mammary gland duct morphogenesis [GO:0060762]; regulation of synapse organization [GO:0050807]; regulation of transcription by RNA polymerase II [GO:0006357]; skeletal muscle acetylcholine-gated channel clustering [GO:0071340]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P41161-1; Sequence=Displayed; Name=2; IsoId=P41161-2; Sequence=VSP_055489; Note=No experimental confirmation available.; 


uniprotID: Q9NZ56
geneSymbol: FMN2
pdb: 2YLE;3R7G;
name: Formin-2
length: 1722
go: ENSG00000155816;
snps: rs12732924 rs12732924 rs3795677
sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; microvillus [GO:0005902]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; spindle [GO:0005819]; actin binding [GO:0003779]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hypoxia [GO:0071456]; establishment of meiotic spindle localization [GO:0051295]; formin-nucleated actin cable assembly [GO:0070649]; homologous chromosome movement towards spindle pole involved in homologous chromosome segregation [GO:0051758]; intracellular signal transduction [GO:0035556]; intracellular transport [GO:0046907]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of protein catabolic process [GO:0042177]; oogenesis [GO:0048477]; polar body extrusion after meiotic divisions [GO:0040038]; positive regulation of double-strand break repair [GO:2000781]; protein transport [GO:0015031]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZ56-1; Sequence=Displayed; Name=2; IsoId=Q9NZ56-2; Sequence=VSP_056095; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:20082305}. Cytoplasm, cytosol {ECO:0000269|PubMed:20082305}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q9JL04}. Nucleus {ECO:0000269|PubMed:26287480}. Nucleus, nucleolus {ECO:0000269|PubMed:23375502}. Cell membrane {ECO:0000250|UniProtKB:Q9JL04}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JL04}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9JL04}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q9JL04}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JL04}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9JL04}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q9JL04}. Note=Colocalizes with the actin cytoskeleton (PubMed:20082305). Recruited to the membranes via its interaction with SPIRE1 (By similarity). Detected at the cleavage furrow during asymmetric oocyte division and polar body extrusion (By similarity). Accumulates in the nucleus following DNA damage (PubMed:26287480). {ECO:0000250|UniProtKB:Q9JL04, ECO:0000269|PubMed:20082305, ECO:0000269|PubMed:26287480}.


uniprotID: Q96EK7
geneSymbol: FAM120B
reactome: R-HSA-1989781;R-HSA-381340;
length: 910
go: ENSG00000112584;
snps: rs6917485 rs6905356 rs6900199 rs6900202 rs6905610 rs6934830 rs9366138 rs9348266
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Constitutive coactivator of peroxisome proliferator-activated receptor gamma (Constitutive coactivator of PPAR-gamma) (Constitutive coactivator of PPARG) (PPARG constitutive coactivator 1) (PGCC1) (Protein FAM120B)

sequence:

opentargets:
nucleus [GO:0005634]; fat cell differentiation [GO:0045444]; peroxisome proliferator activated receptor signaling pathway [GO:0035357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96EK7-1; Sequence=Displayed; Name=2; IsoId=Q96EK7-2; Sequence=VSP_033415, VSP_033416; Name=3; IsoId=Q96EK7-3; Sequence=VSP_055267; Note=No experimental confirmation available.; 


uniprotID: P50549
geneSymbol: ETV1
pdb: 4AVP;4BNC;5ILS;
name: ETS translocation variant 1 (Ets-related protein 81)
length: 477
go: ENSG00000006468;
snps: rs9639168
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; axon guidance [GO:0007411]; cell differentiation [GO:0030154]; mechanosensory behavior [GO:0007638]; muscle organ development [GO:0007517]; peripheral nervous system neuron development [GO:0048935]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P50549-1; Sequence=Displayed; Name=2; IsoId=P50549-2; Sequence=VSP_001472; Name=3; IsoId=P50549-3; Sequence=VSP_043750; Note=No experimental confirmation available.; Name=4; IsoId=P50549-4; Sequence=VSP_043808, VSP_043809; Name=5; IsoId=P50549-5; Sequence=VSP_043808, VSP_001472; Note=No experimental confirmation available.; Name=6; IsoId=P50549-6; Sequence=VSP_043808; Note=No experimental confirmation available.; 


uniprotID: O00321
geneSymbol: ETV2
name: ETS translocation variant 2 (Ets-related protein 71)
length: 342
snps: rs2285419
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
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]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; blastocyst development [GO:0001824]; blood vessel morphogenesis [GO:0048514]; BMP signaling pathway involved in mesodermal cell fate specification [GO:0060803]; cell differentiation [GO:0030154]; erythrocyte differentiation [GO:0030218]; Notch signaling pathway [GO:0007219]; placenta development [GO:0001890]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of mesoderm development [GO:2000382]; regulation of transcription by RNA polymerase II [GO:0006357]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00321-1; Sequence=Displayed; Name=2; IsoId=O00321-2; Sequence=VSP_055488; Note=No experimental confirmation available.; 


uniprotID: A6NL82
geneSymbol: FAM183A
name: Protein FAM183A
length: 134
go: ENSG00000186973;
sequence:
MAGHPKEKVIPDEVHQNQILRELYLKELRTQKLYTQYHVNPLRKIHTVTRKPMSWHDNLEEPADARFLNLIHHAAQGPRKKYPETQTENQEVGWDLEPLINPERHDRRLNHFRVCSDITLYKAKTWGLGDDHHK


uniprotID: P05413
geneSymbol: FABP3
reactome: R-HSA-163560;
length: 133
go: ENSG00000121769;
drug: DB04224;DB03796;DB03193;
snps: rs2228194
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1G5W;1HMR;1HMS;1HMT;2HMB;3RSW;3WBG;3WVM;3WXQ;4TJZ;4TKB;4TKH;4TKJ;4WBK;5B27;5B28;5B29;5CE4;5HZ9;6AQ1;

name:
Fatty acid-binding protein, heart (Fatty acid-binding protein 3) (Heart-type fatty acid-binding protein) (H-FABP) (Mammary-derived growth inhibitor) (MDGI) (Muscle fatty acid-binding protein) (M-FABP)

sequence:
MVDAFLGTWKLVDSKNFDDYMKSLGVGFATRQVASMTKPTTIIEKNGDILTLKTHSTFKNTEISFKLGVEFDETTADDRKVKSIVTLDGGKLVHLQKWDGQETTLVRELIDGKLILTLTHGTAVCTRTYEKEA

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; sarcoplasm [GO:0016528]; cytoskeletal protein binding [GO:0008092]; icosatetraenoic acid binding [GO:0050543]; long-chain fatty acid binding [GO:0036041]; long-chain fatty acid transporter activity [GO:0005324]; oleic acid binding [GO:0070538]; cholesterol homeostasis [GO:0042632]; fatty acid metabolic process [GO:0006631]; long-chain fatty acid import [GO:0044539]; negative regulation of cell proliferation [GO:0008285]; phospholipid homeostasis [GO:0055091]; positive regulation of phospholipid biosynthetic process [GO:0071073]; regulation of fatty acid oxidation [GO:0046320]; regulation of phosphatidylcholine biosynthetic process [GO:2001245]; response to drug [GO:0042493]; response to fatty acid [GO:0070542]; response to insulin [GO:0032868]; triglyceride catabolic process [GO:0019433]


uniprotID: Q92800
geneSymbol: EZH1
name: Histone-lysine N-methyltransferase EZH1 (EC 2.1.1.43) (ENX-2) (Enhancer of zeste homolog 1)
length: 747
go: ENSG00000108799;
sequence:

opentargets:
ESC/E(Z) complex [GO:0035098]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone-lysine N-methyltransferase activity [GO:0018024]; anatomical structure morphogenesis [GO:0009653]; hippocampus development [GO:0021766]; histone H3-K27 methylation [GO:0070734]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q92800-1; Sequence=Displayed; Name=2; IsoId=Q92800-2; Sequence=VSP_036386; Note=No experimental confirmation available.; Name=3; IsoId=Q92800-3; Sequence=VSP_036387; Note=No experimental confirmation available.; Name=4; IsoId=Q92800-4; Sequence=VSP_036385; Note=No experimental confirmation available.; Name=5; IsoId=Q92800-5; Sequence=VSP_036384; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19026781}. Note=Colocalizes with trimethylated 'Lys-27' of histone H3.


uniprotID: P81408
geneSymbol: FAM189B
name: Protein FAM189B (Protein COTE1)
length: 668
go: ENSG00000160767;
opentargets: integral component of membrane [GO:0016021]; WW domain binding [GO:0050699]
snps: rs2072648 rs2072648
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=P81408-1; Sequence=Displayed; Name=B; IsoId=P81408-2; Sequence=VSP_038926; Name=2; IsoId=P81408-3; Sequence=VSP_046728, VSP_046729; Name=3; IsoId=P81408-4; Sequence=VSP_046729; 


uniprotID: Q96ND0
geneSymbol: FAM210A
name: Protein FAM210A
length: 272
go: ENSG00000177150;
opentargets: cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]
snps: rs35493157 rs116967198 rs2847146
sequence:

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255, ECO:0000305}; Single-pass membrane protein {ECO:0000255}. Mitochondrion {ECO:0000250|UniProtKB:Q8BGY7}. Cytoplasm {ECO:0000250|UniProtKB:Q8BGY7}.


uniprotID: Q8NCA5
geneSymbol: FAM98A
name: Protein FAM98A
length: 519
go: ENSG00000119812;
sequence:

opentargets:
tRNA-splicing ligase complex [GO:0072669]; protein methyltransferase activity [GO:0008276]; RNA binding [GO:0003723]; lysosome localization [GO:0032418]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of ruffle assembly [GO:1900029]; protein methylation [GO:0006479]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCA5-1; Sequence=Displayed; Name=2; IsoId=Q8NCA5-2; Sequence=VSP_039184; 


