# annotation

uniprotID: O14730
geneSymbol: RIOK3
reactome: R-HSA-6791226;
name: Serine/threonine-protein kinase RIO3 (EC 2.7.11.1) (RIO kinase 3) (sudD homolog)
length: 519
go: ENSG00000101782;
snps: rs35401850 rs33969048 rs56282762
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22418843}.
sequence:

opentargets:
cytosol [GO:0005829]; preribosome, small subunit precursor [GO:0030688]; ATP binding [GO:0005524]; caspase binding [GO:0089720]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; cellular response to dsDNA [GO:1990786]; cellular response to dsRNA [GO:0071359]; cellular response to virus [GO:0098586]; chromosome segregation [GO:0007059]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; maturation of SSU-rRNA [GO:0030490]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of MDA-5 signaling pathway [GO:0039534]; negative regulation of protein homooligomerization [GO:0032463]; positive regulation of innate immune response [GO:0045089]; positive regulation of interferon-beta production [GO:0032728]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14730-1; Sequence=Displayed; Name=2; IsoId=O14730-2; Sequence=VSP_012164; Note=No experimental confirmation available.; 


uniprotID: Q9NZE8
geneSymbol: MRPL35
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 188
go: ENSG00000132313;
snps: rs10901 rs17851803 rs1051949 rs34044771 rs3192352 rs1052065
name:
39S ribosomal protein L35, mitochondrial (L35mt) (MRP-L35) (Mitochondrial large ribosomal subunit protein bL35m)

sequence:
MAASAFAGAVRAASGILRPLNILASSTYRNCVKNASLISALSTGRFSHIQTPVVSSTPRLTTSERNLTCGHTSVILNRMAPVLPSVLKLPVRSLTYFSARKGKRKTVKAVIDRFLRLHCGLWVRRKAGYKKKLWKKTPARKKRLREFVFCNKTQSKLLDKMTTSFWKRRNWYVDDPYQKYHDRTNLKV

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial ribosome [GO:0005761]; mitochondrion [GO:0005739]; structural constituent of ribosome [GO:0003735]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZE8-1; Sequence=Displayed; Name=2; IsoId=Q9NZE8-2; Sequence=VSP_036507; 


uniprotID: Q9P0J6
geneSymbol: MRPL36
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;
length: 103
go: ENSG00000171421;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379}.
name:
39S ribosomal protein L36, mitochondrial (L36mt) (MRP-L36) (BRCA1-interacting protein 1) (Mitochondrial large ribosomal subunit protein bL36m)

sequence:
MANLFIRKMVNPLLYLSRHTVKPRALSTFLFGSIRGAAPVAVEPGAAVRSLLSPGLLPHLLPALGFKNKTVLKKRCKDCYLVKRRGRWYVYCKTHPRHKQRQM

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrion [GO:0005739]; nuclear body [GO:0016604]; structural constituent of ribosome [GO:0003735]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: Q96DV4
geneSymbol: MRPL38
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 380
go: ENSG00000204316;
snps: rs34136221 rs9191
name:
39S ribosomal protein L38, mitochondrial (L38mt) (MRP-L38) (Mitochondrial large ribosomal subunit protein mL38)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrion [GO:0005739]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DV4-1; Sequence=Displayed; Name=2; IsoId=Q96DV4-2; Sequence=VSP_056090; Note=No experimental confirmation available.; 


uniprotID: Q9NYK5
geneSymbol: MRPL39
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 338
go: ENSG00000154719;
snps: rs3989369
name:
39S ribosomal protein L39, mitochondrial (L39mt) (MRP-L39) (39S ribosomal protein L5, mitochondrial) (L5mt) (MRP-L5) (Mitochondrial large ribosomal subunit protein mL39)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial ribosome [GO:0005761]; mitochondrion [GO:0005739]; nucleotide binding [GO:0000166]; RNA binding [GO:0003723]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYK5-1; Sequence=Displayed; Name=2; Synonyms=MRP-L5V1; IsoId=Q9NYK5-2; Sequence=VSP_005718; 


uniprotID: Q9NQ50
geneSymbol: MRPL40
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 206
go: ENSG00000185608;
snps: rs1128399 rs7575
name:
39S ribosomal protein L40, mitochondrial (L40mt) (MRP-L40) (Mitochondrial large ribosomal subunit protein mL40) (Nuclear localization signal-containing protein deleted in velocardiofacial syndrome) (Up-regulated in metastasis)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial ribosome [GO:0005761]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; RNA binding [GO:0003723]; anatomical structure morphogenesis [GO:0009653]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]


uniprotID: Q8IXM3
geneSymbol: MRPL41
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 137
go: ENSG00000182154;
name:
39S ribosomal protein L41, mitochondrial (L41mt) (MRP-L41) (39S ribosomal protein L27 homolog) (Bcl-2-interacting mitochondrial ribosomal protein L41) (Cell proliferation-inducing gene 3 protein) (MRP-L27 homolog) (Mitochondrial large ribosomal subunit protein mL41)

sequence:
MGVLAAAARCLVRGADRMSKWTSKRGPRSFRGRKGRGAKGIGFLTSGWRFVQIKEMVPEFVVPDLTGFKLKPYVSYLAPESEETPLTAAQLFSEAVAPAIEKDFKDGTFDPDNLEKYGFEPTQEGKLFQLYPRNFLR

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrion [GO:0005739]; ribonucleoprotein complex [GO:1990904]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16024796, ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.


uniprotID: Q9Y6G3
geneSymbol: MRPL42
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 142
go: ENSG00000198015;
name:
39S ribosomal protein L42, mitochondrial (L42mt) (MRP-L42) (39S ribosomal protein L31, mitochondrial) (L31mt) (MRP-L31) (Mitochondrial large ribosomal subunit protein mL42)

sequence:
MAVAAVKWVMSKRTILKHLFPVQNGALYCVCHKSTYSPLPDDYNCNVELALTSDGRTIVCYHPSVDIPYEHTKPIPRPDPVHNNEETHDQVLKTRLEEKVEHLEEGPMIEQLSKMFFTTKHRWYPHGRYHRCRKNLNPPKDR

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11279123, ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.


uniprotID: Q8N983
geneSymbol: MRPL43
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 215
go: ENSG00000055950;
name:
39S ribosomal protein L43, mitochondrial (L43mt) (MRP-L43) (Mitochondrial large ribosomal subunit protein mL43) (Mitochondrial ribosomal protein bMRP36a)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8N983-1; Sequence=Displayed; Name=2; IsoId=Q8N983-2; Sequence=VSP_011026; Name=3; IsoId=Q8N983-3; Sequence=VSP_011027, VSP_011028; Name=4; IsoId=Q8N983-4; Sequence=VSP_011029, VSP_011030; Name=5; IsoId=Q8N983-6; Sequence=VSP_054092; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=6; IsoId=Q8N983-7; Sequence=VSP_054093; Note=No experimental confirmation available.; 


uniprotID: Q9H9J2
geneSymbol: MRPL44
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 332
go: ENSG00000135900;
snps: rs11546406 rs143697995
name:
39S ribosomal protein L44, mitochondrial (L44mt) (MRP-L44) (EC 3.1.26.-) (Mitochondrial large ribosomal subunit protein mL44)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; double-stranded RNA binding [GO:0003725]; ribonuclease III activity [GO:0004525]; RNA binding [GO:0003723]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; pre-miRNA processing [GO:0031054]; primary miRNA processing [GO:0031053]; production of siRNA involved in RNA interference [GO:0030422]; RNA processing [GO:0006396]


uniprotID: Q13546
geneSymbol: RIPK1
pdb: 4ITH;4ITI;4ITJ;4NEU;5HX6;5TX5;5V7Z;6C3E;6C4D;
length: 671
go: ENSG00000137275;
snps: rs774996232 rs758268804 rs759012409 rs17548383 rs34872409 rs3173519 rs35722193 rs55861377
location: SUBCELLULAR LOCATION: Cytoplasm. Cell membrane {ECO:0000250}.
reactome:
R-HSA-140534;R-HSA-168927;R-HSA-1810476;R-HSA-2562578;R-HSA-3295583;R-HSA-3371378;R-HSA-5213460;R-HSA-5218900;R-HSA-5357786;R-HSA-5357905;R-HSA-5357956;R-HSA-5675482;R-HSA-5689880;R-HSA-5689896;R-HSA-69416;R-HSA-75893;R-HSA-9013957;R-HSA-933543;R-HSA-937041;

name:
Receptor-interacting serine/threonine-protein kinase 1 (EC 2.7.11.1) (Cell death protein RIP) (Receptor-interacting protein 1) (RIP-1)

sequence:

opentargets:
cytosol [GO:0005829]; death-inducing signaling complex [GO:0031264]; endosome membrane [GO:0010008]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; receptor complex [GO:0043235]; ripoptosome [GO:0097342]; ATP binding [GO:0005524]; death domain binding [GO:0070513]; death receptor binding [GO:0005123]; identical protein binding [GO:0042802]; JUN kinase kinase kinase activity [GO:0004706]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein-containing complex binding [GO:0044877]; ubiquitin protein ligase binding [GO:0031625]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of JUN kinase activity [GO:0007257]; amyloid fibril formation [GO:1990000]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cellular protein catabolic process [GO:0044257]; cellular response to growth factor stimulus [GO:0071363]; cellular response to tumor necrosis factor [GO:0071356]; death-inducing signaling complex assembly [GO:0071550]; extrinsic apoptotic signaling pathway [GO:0097191]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; MAPK cascade [GO:0000165]; MyD88-independent toll-like receptor signaling pathway [GO:0002756]; necroptotic process [GO:0070266]; necroptotic signaling pathway [GO:0097527]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; peptidyl-serine autophosphorylation [GO:0036289]; positive regulation of apoptotic process [GO:0043065]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of hydrogen peroxide-induced cell death [GO:1905206]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of JNK cascade [GO:0046330]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of necroptotic process [GO:0060545]; positive regulation of necrotic cell death [GO:0010940]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of programmed cell death [GO:0043068]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; protein autophosphorylation [GO:0046777]; protein deubiquitination [GO:0016579]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; regulation of ATP:ADP antiporter activity [GO:0070926]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; response to tumor necrosis factor [GO:0034612]; ripoptosome assembly [GO:0097343]; ripoptosome assembly involved in necroptotic process [GO:1901026]; T cell apoptotic process [GO:0070231]; toll-like receptor 3 signaling pathway [GO:0034138]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13546-1; Sequence=Displayed; Name=2; IsoId=Q13546-2; Sequence=VSP_037690; Note=No experimental confirmation available.; 


uniprotID: O43353
geneSymbol: RIPK2
pdb: 2N7Z;2N83;4C8B;5AR2;5AR3;5AR4;5AR5;5AR7;5AR8;5J79;5J7B;5NG0;5NG2;5NG3;5W5J;5W5O;6ES0;6FU5;
length: 540
go: ENSG00000104312;
snps: rs2230801 rs35004667 rs35395048
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
reactome:
R-HSA-168638;R-HSA-202424;R-HSA-209543;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-5689896;R-HSA-9020702;

name:
Receptor-interacting serine/threonine-protein kinase 2 (EC 2.7.11.1) (CARD-containing interleukin-1 beta-converting enzyme-associated kinase) (CARD-containing IL-1 beta ICE-kinase) (RIP-like-interacting CLARP kinase) (Receptor-interacting protein 2) (RIP-2) (Tyrosine-protein kinase RIPK2) (EC 2.7.10.2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; protein-containing complex [GO:0032991]; vesicle [GO:0031982]; ATP binding [GO:0005524]; CARD domain binding [GO:0050700]; caspase binding [GO:0089720]; identical protein binding [GO:0042802]; JUN kinase kinase kinase activity [GO:0004706]; LIM domain binding [GO:0030274]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; signaling receptor binding [GO:0005102]; activation of cysteine-type endopeptidase activity [GO:0097202]; activation of JUN kinase activity [GO:0007257]; activation of MAPK activity [GO:0000187]; adaptive immune response [GO:0002250]; apoptotic process [GO:0006915]; cellular response to lipoteichoic acid [GO:0071223]; cellular response to muramyl dipeptide [GO:0071225]; cellular response to peptidoglycan [GO:0071224]; defense response to Gram-positive bacterium [GO:0050830]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1-mediated signaling pathway [GO:0070498]; JNK cascade [GO:0007254]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; nucleotide-binding oligomerization domain containing 1 signaling pathway [GO:0070427]; nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070431]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of alpha-beta T cell proliferation [GO:0046641]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell death [GO:0010942]; positive regulation of chemokine production [GO:0032722]; positive regulation of cytokine-mediated signaling pathway [GO:0001961]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of immature T cell proliferation [GO:0033091]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein binding [GO:0032092]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of T-helper 1 cell differentiation [GO:0045627]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of xenophagy [GO:1904417]; response to exogenous dsRNA [GO:0043330]; response to interleukin-12 [GO:0070671]; response to interleukin-18 [GO:0070673]; signal transduction [GO:0007165]; T cell proliferation [GO:0042098]; T cell receptor signaling pathway [GO:0050852]; toll-like receptor 2 signaling pathway [GO:0034134]; toll-like receptor 4 signaling pathway [GO:0034142]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43353-1; Sequence=Displayed; Name=2; IsoId=O43353-2; Sequence=VSP_013266; 


uniprotID: Q96MK2
geneSymbol: RIPOR3
name: RIPOR family member 3
length: 946
go: ENSG00000042062;
snps: rs35965508 rs6020624
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MK2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96MK2-2; Sequence=VSP_026496; Note=No experimental confirmation available.; 


uniprotID: Q9Y572
geneSymbol: RIPK3
reactome: R-HSA-168927;R-HSA-1810476;R-HSA-2562578;R-HSA-3295583;R-HSA-5213460;R-HSA-9013957;R-HSA-937041;
pdb: 5V7Z;
length: 518
go: ENSG00000129465;
snps: rs7153640 rs34106261 rs3212254
name:
Receptor-interacting serine/threonine-protein kinase 3 (EC 2.7.11.1) (RIP-like protein kinase 3) (Receptor-interacting protein 3) (RIP-3)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; NF-kappaB-inducing kinase activity [GO:0004704]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein-containing complex binding [GO:0044877]; transcription coactivator activity [GO:0003713]; activation of protein kinase activity [GO:0032147]; amyloid fibril formation [GO:1990000]; apoptotic signaling pathway [GO:0097190]; cellular protein modification process [GO:0006464]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; lymph node development [GO:0048535]; necroptotic process [GO:0070266]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of ligase activity [GO:0051351]; positive regulation of necroptotic process [GO:0060545]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of oxidoreductase activity [GO:0051353]; positive regulation of phosphatase activity [GO:0010922]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; protein autophosphorylation [GO:0046777]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; regulation of activated T cell proliferation [GO:0046006]; regulation of activation-induced cell death of T cells [GO:0070235]; regulation of adaptive immune response [GO:0002819]; regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation [GO:2000452]; regulation of interferon-gamma production [GO:0032649]; regulation of T cell mediated cytotoxicity [GO:0001914]; signal transduction [GO:0007165]; spleen development [GO:0048536]; T cell differentiation in thymus [GO:0033077]; T cell homeostasis [GO:0043029]; thymus development [GO:0048538]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y572-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9Y572-2; Sequence=VSP_035106; Name=3; Synonyms=Gamma; IsoId=Q9Y572-3; Sequence=VSP_035107; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:22265413}. Cell membrane {ECO:0000250}. Mitochondrion {ECO:0000305}.


uniprotID: Q6P161
geneSymbol: MRPL54
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;5OOL;5OOM;
length: 138
go: ENSG00000183617;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.
name:
39S ribosomal protein L54, mitochondrial (L54mt) (MRP-L54) (Mitochondrial large ribosomal subunit protein mL54)

sequence:
MATKRLFGATRTWAGWGAWELLNPATSGRLLARDYAKKPVMKGAKSGKGAVTSEALKDPDVCTDPVQLTTYAMGVNIYKEGQDVPLKPDAEYPEWLFEMNLGPPKTLEELDPESREYWRRLRKQNIWRHNRLSKNKRL

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]


uniprotID: P57078
geneSymbol: RIPK4
length: 832
go: ENSG00000183421;
location: SUBCELLULAR LOCATION: Cytoplasm. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
name:
Receptor-interacting serine/threonine-protein kinase 4 (EC 2.7.11.1) (Ankyrin repeat domain-containing protein 3) (PKC-delta-interacting protein kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; morphogenesis of an epithelium [GO:0002009]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]

snps:
rs6586239 rs387906922 rs387906923 rs12482626 rs55809511 rs55645753 rs55829311 rs56056485 rs35537517 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P57078-1; Sequence=Displayed; Name=2; IsoId=P57078-2; Sequence=VSP_004862; 


uniprotID: P49802
geneSymbol: RGS7
reactome: R-HSA-418594;R-HSA-6814122;
pdb: 2A72;2D9J;
name: Regulator of G-protein signaling 7 (RGS7)
length: 495
go: ENSG00000182901;
snps: rs12746550 rs17851953
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; G-protein beta-subunit binding [GO:0031681]; GTPase activator activity [GO:0005096]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; negative regulation of signal transduction [GO:0009968]; positive regulation of GTPase activity [GO:0043547]; protein folding [GO:0006457]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=A; IsoId=P49802-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P49802-2; Sequence=VSP_005672; Name=3; IsoId=P49802-3; Sequence=VSP_005673; Name=4; IsoId=P49802-4; Sequence=VSP_005671, VSP_005673; Name=5; IsoId=P49802-5; Sequence=VSP_038388; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10521509}. Cytoplasm {ECO:0000269|PubMed:10339594, ECO:0000269|PubMed:15897264}. Cell membrane {ECO:0000269|PubMed:10339594, ECO:0000269|PubMed:15897264}. Membrane {ECO:0000269|PubMed:10521509}; Peripheral membrane protein {ECO:0000269|PubMed:10521509}; Cytoplasmic side {ECO:0000305}. Note=Interaction with PKD1 promotes location at the cell membrane (PubMed:10339594). Interaction with RGS7BP promotes location at the cell membrane (PubMed:15897264). {ECO:0000269|PubMed:10339594, ECO:0000269|PubMed:15897264}.


uniprotID: O43665
geneSymbol: RGS10
reactome: R-HSA-418594;
pdb: 2DLR;2I59;2IHB;
name: Regulator of G-protein signaling 10 (RGS10)
length: 173
go: ENSG00000148908;
snps: rs1802228
sequence:
MQSELCFADIHDSDGSSSSSHQSLKSTAKWAASLENLLEDPEGVKRFREFLKKEFSEENVLFWLACEDFKKMQDKTQMQEKAKEIYMTFLSSKASSQVNVEGQSRLNEKILEEPHPLMFQKLQDQIFNLMKYDSYSRFLKSDLFLKHKRTEEEEEDLPDAQTAAKRASRIYNT

opentargets:
axon terminus [GO:0043679]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; G-protein alpha-subunit binding [GO:0001965]; GTPase activator activity [GO:0005096]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; negative regulation of signal transduction [GO:0009968]; positive regulation of GTPase activity [GO:0043547]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; response to amphetamine [GO:0001975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43665-1; Sequence=Displayed; Name=2; IsoId=O43665-2; Sequence=VSP_005681; Name=3; IsoId=O43665-3; Sequence=VSP_027366; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11443111}. Nucleus {ECO:0000269|PubMed:11443111}. Note=Forskolin treatment promotes phosphorylation and translocation to the nucleus. {ECO:0000269|PubMed:11443111}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:10791963}.


uniprotID: O15492
geneSymbol: RGS16
reactome: R-HSA-418594;
pdb: 2BT2;2IK8;
length: 202
go: ENSG00000143333;
snps: rs1144566
name:
Regulator of G-protein signaling 16 (RGS16) (A28-RGS14P) (Retinal-specific RGS) (RGS-r) (hRGS-r) (Retinally abundant regulator of G-protein signaling)

sequence:

opentargets:
cytoplasm [GO:0005737]; intrinsic component of membrane [GO:0031224]; calmodulin binding [GO:0005516]; GTPase activator activity [GO:0005096]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of signal transduction [GO:0009968]; positive regulation of GTPase activity [GO:0043547]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P97428}; Lipid-anchor {ECO:0000250|UniProtKB:P97428}.


uniprotID: A6NI28
geneSymbol: ARHGAP42
reactome: R-HSA-194840;
length: 874
go: ENSG00000165895;
name:
Rho GTPase-activating protein 42 (Rho GTPase-activating protein 10-like) (Rho-type GTPase-activating protein 42)

sequence:

opentargets:
GTPase activator activity [GO:0005096]; activation of GTPase activity [GO:0090630]; negative regulation of Rho protein signal transduction [GO:0035024]; negative regulation of systemic arterial blood pressure [GO:0003085]; negative regulation of vascular smooth muscle contraction [GO:1904694]; signal transduction [GO:0007165]


uniprotID: O94844
geneSymbol: RHOBTB1
reactome: R-HSA-194840;
name: Rho-related BTB domain-containing protein 1
length: 696
go: ENSG00000072422;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein kinase binding [GO:0019901]; actin cytoskeleton organization [GO:0030036]; actin cytoskeleton reorganization [GO:0031532]; actin filament organization [GO:0007015]; cell migration [GO:0016477]; cell morphogenesis [GO:0000902]; engulfment of apoptotic cell [GO:0043652]; positive regulation of actin filament polymerization [GO:0030838]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]


uniprotID: Q07960
geneSymbol: ARHGAP1
reactome: R-HSA-194840;
pdb: 1AM4;1GRN;1OW3;1RGP;1TX4;2NGR;5M6X;5M70;
length: 439
go: ENSG00000175220;
snps: rs11822837
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Rho GTPase-activating protein 1 (CDC42 GTPase-activating protein) (GTPase-activating protein rhoGAP) (Rho-related small GTPase protein activator) (Rho-type GTPase-activating protein 1) (p50-RhoGAP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; perinuclear region of cytoplasm [GO:0048471]; cadherin binding [GO:0045296]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; endosomal transport [GO:0016197]; negative regulation of endocytic recycling [GO:2001136]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]; small GTPase mediated signal transduction [GO:0007264]; transferrin transport [GO:0033572]


uniprotID: Q8IWW6
geneSymbol: ARHGAP12
reactome: R-HSA-194840;
name: Rho GTPase-activating protein 12 (Rho-type GTPase-activating protein 12)
length: 846
go: ENSG00000165322;
snps: rs2808096
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; phagocytic cup [GO:0001891]; GTPase activator activity [GO:0005096]; actin filament organization [GO:0007015]; morphogenesis of an epithelial sheet [GO:0002011]; negative regulation of small GTPase mediated signal transduction [GO:0051058]; phagocytosis, engulfment [GO:0006911]; regulation of GTPase activity [GO:0043087]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=ARHGAP12b; IsoId=Q8IWW6-1; Sequence=Displayed; Name=2; Synonyms=ARHGAP12a; IsoId=Q8IWW6-2; Sequence=VSP_010327; Name=3; IsoId=Q8IWW6-3; Sequence=VSP_010326, VSP_010328; Name=4; IsoId=Q8IWW6-4; Sequence=VSP_010328; 


uniprotID: Q5TG30
geneSymbol: ARHGAP40
reactome: R-HSA-194840;
name: Rho GTPase-activating protein 40 (Rho-type GTPase-activating protein 40)
length: 622
go: ENSG00000124143;
snps: rs6100455 rs6070872 rs16987460
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of actin filament polymerization [GO:0030833]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]


uniprotID: Q68EM7
geneSymbol: ARHGAP17
reactome: R-HSA-194840;
length: 881
go: ENSG00000140750;
name:
Rho GTPase-activating protein 17 (Rho-type GTPase-activating protein 17) (RhoGAP interacting with CIP4 homologs protein 1) (RICH-1)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; Rac GTPase binding [GO:0048365]; SH3 domain binding [GO:0017124]; actin filament organization [GO:0007015]; calcium ion regulated exocytosis [GO:0017156]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q68EM7-1; Sequence=Displayed; Name=2; IsoId=Q68EM7-2; Sequence=VSP_023687; Name=3; IsoId=Q68EM7-3; Sequence=VSP_023683; Note=No experimental confirmation available.; Name=4; Synonyms=RICH1B; IsoId=Q68EM7-4; Sequence=VSP_023684, VSP_023685; Name=5; IsoId=Q68EM7-5; Sequence=VSP_023688; Note=No experimental confirmation available.; Name=6; IsoId=Q68EM7-6; Sequence=VSP_023689; Name=7; IsoId=Q68EM7-7; Sequence=VSP_023682, VSP_023686; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cytoplasm. Cell junction, tight junction. Note=Associates with membranes and concentrates at sites of cell-cell contact.


uniprotID: P17081
geneSymbol: RHOQ
reactome: R-HSA-1445148;R-HSA-194840;R-HSA-5627083;
pdb: 2ATX;
name: Rho-related GTP-binding protein RhoQ (Ras-like protein TC10) (Ras-like protein family member 7A)
length: 205
go: ENSG00000119729;
sequence:

opentargets:
actin filament [GO:0005884]; cell cortex [GO:0005938]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi-associated vesicle membrane [GO:0030660]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; GBD domain binding [GO:0032427]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; profilin binding [GO:0005522]; protein kinase binding [GO:0019901]; actin cytoskeleton organization [GO:0030036]; actin filament organization [GO:0007015]; cell projection assembly [GO:0030031]; cellular response to insulin stimulus [GO:0032869]; cortical actin cytoskeleton organization [GO:0030866]; endocytosis [GO:0006897]; establishment or maintenance of cell polarity [GO:0007163]; GTP metabolic process [GO:0046039]; insulin receptor signaling pathway [GO:0008286]; negative regulation of protein localization to plasma membrane [GO:1903077]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of glucose import [GO:0046326]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell shape [GO:0008360]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15546864}. Cell membrane {ECO:0000269|PubMed:15546864}; Lipid-anchor {ECO:0000269|PubMed:15546864}.


uniprotID: Q969G6
geneSymbol: RFK
reactome: R-HSA-196843;
pdb: 1NB0;1NB9;1P4M;1Q9S;
name: Riboflavin kinase (EC 2.7.1.26) (ATP:riboflavin 5'-phosphotransferase) (Flavokinase)
length: 155
go: ENSG00000135002;
drug: DB00140;DB03247;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MRHLPYFCRGQVVRGFGRGSKQLGIPTANFPEQVVDNLPADISTGIYYGWASVGSGDVHKMVVSIGWNPYYKNTKKSMETHIMHTFKEDFYGEILNVAIVGYLRPEKNFDSLESLISAIQGDIEEAKKRLELPEHLKIKEDNFFQVSKSKIMNGH

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; riboflavin kinase activity [GO:0008531]; apoptotic process [GO:0006915]; FMN biosynthetic process [GO:0009398]; positive regulation of NAD(P)H oxidase activity [GO:0033864]; reactive oxygen species metabolic process [GO:0072593]; riboflavin biosynthetic process [GO:0009231]; riboflavin metabolic process [GO:0006771]


uniprotID: Q9NPQ8
geneSymbol: RIC8A
name: Synembryn-A (Protein Ric-8A)
length: 531
go: ENSG00000177963;
sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; G-protein alpha-subunit binding [GO:0001965]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; basement membrane organization [GO:0071711]; cell migration involved in gastrulation [GO:0042074]; cell-cell adhesion involved in gastrulation [GO:0070586]; G protein-coupled receptor signaling pathway [GO:0007186]; in utero embryonic development [GO:0001701]; vasculature development [GO:0001944]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NPQ8-1; Sequence=Displayed; Name=2; IsoId=Q9NPQ8-2; Sequence=VSP_018507; Name=3; IsoId=Q9NPQ8-3; Sequence=VSP_018508; Name=4; IsoId=Q9NPQ8-4; Sequence=VSP_039849; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Colocalizes with RIC8A in CA2 hippocampal neurons. Colocalizes with GNAI1 and RGS14 at the plasma membrane (By similarity). {ECO:0000250}.


uniprotID: A6NJZ7
geneSymbol: RIMBP3C
name: RIMS-binding protein 3C (RIM-BP3.C) (RIMS-binding protein 3.3) (RIM-BP3.3)
length: 1639
go: ENSG00000183246;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q3V0F0}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; nucleus [GO:0005634]; benzodiazepine receptor binding [GO:0030156]; fertilization [GO:0009566]; spermatid development [GO:0007286]


uniprotID: Q9BYD6
geneSymbol: MRPL1
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
length: 325
go: ENSG00000169288;
snps: rs17851275 rs17855456
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:A6QPQ5, ECO:0000305|PubMed:11279069}.
name:
39S ribosomal protein L1, mitochondrial (L1mt) (MRP-L1) (Mitochondrial large ribosomal subunit protein uL1m)

sequence:

opentargets:
cytosolic large ribosomal subunit [GO:0022625]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; maturation of LSU-rRNA [GO:0000470]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: Q5T653
geneSymbol: MRPL2
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 305
go: ENSG00000112651;
snps: rs10456521
name:
39S ribosomal protein L2, mitochondrial (L2mt) (MRP-L2) (Mitochondrial large ribosomal subunit protein uL2m)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]


uniprotID: P09001
geneSymbol: MRPL3
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 348
go: ENSG00000114686;
snps: rs2291381 rs387906962
name:
39S ribosomal protein L3, mitochondrial (L3mt) (MRP-L3) (Mitochondrial large ribosomal subunit protein uL3m)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: Q9H871
geneSymbol: RMND5A
name: E3 ubiquitin-protein transferase RMND5A (EC 2.3.2.27) (P44CTLH) (Protein RMD5 homolog A)
length: 391
go: ENSG00000153561;
sequence:

opentargets:
cytoplasm [GO:0005737]; GID complex [GO:0034657]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; metal ion binding [GO:0046872]; ubiquitin-protein transferase activity [GO:0004842]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H871-1; Sequence=Displayed; Name=2; IsoId=Q9H871-2; Sequence=VSP_022454, VSP_022455; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:17467196, ECO:0000269|PubMed:24143168, ECO:0000269|PubMed:25793641}. Cytoplasm {ECO:0000269|PubMed:17467196, ECO:0000269|PubMed:24143168, ECO:0000269|PubMed:25793641}.


uniprotID: Q8TEB7
geneSymbol: RNF128
reactome: R-HSA-5689880;R-HSA-5689896;
pdb: 3ICU;
length: 428
go: ENSG00000133135;
name:
E3 ubiquitin-protein ligase RNF128 (EC 2.3.2.27) (Gene related to anergy in lymphocytes protein) (GRAIL) (RING finger protein 128) (RING-type E3 ubiquitin transferase RNF128)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; perinuclear region of cytoplasm [GO:0048471]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; negative regulation of cytokine biosynthetic process [GO:0042036]; positive regulation of protein catabolic process in the vacuole [GO:1904352]; protein deubiquitination [GO:0016579]; protein localization to lysosome [GO:0061462]; regulation of protein stability [GO:0031647]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TEB7-1; Sequence=Displayed; Name=2; IsoId=Q8TEB7-2; Sequence=VSP_021685; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12705856, ECO:0000269|PubMed:22016387}. Cytoplasm, perinuclear region {ECO:0000250}. Note=Localized in an asymmetric perinuclear punctate manner. Localizes to the internal pool of the transferrin recycling endosomal pathway. Partially colocalized with the endoplasmic reticulum resident HSPA5, with Golgi resident STX5, and with the late endosomal GTPase RAB7A (By similarity). {ECO:0000250}.


uniprotID: Q8IUD6
geneSymbol: RNF135
reactome: R-HSA-168928;R-HSA-5689896;R-HSA-918233;R-HSA-933541;R-HSA-933542;R-HSA-933543;R-HSA-936440;
length: 432
go: ENSG00000181481;
snps: rs7225888 rs7211440 rs111902263 rs121918162 rs61749868
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19484123}.
name:
E3 ubiquitin-protein ligase RNF135 (EC 2.3.2.27) (RIG-I E3 ubiquitin ligase) (REUL) (RING finger protein 135) (RING-type E3 ubiquitin transferase RNF135) (Riplet)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; ribonucleoprotein complex binding [GO:0043021]; ubiquitin-protein transferase activity [GO:0004842]; innate immune response [GO:0045087]; negative regulation of type I interferon production [GO:0032480]; positive regulation of interferon-beta production [GO:0032728]; protein ubiquitination [GO:0016567]; regulation of innate immune response [GO:0045088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IUD6-1; Sequence=Displayed; Name=2; IsoId=Q8IUD6-2; Sequence=VSP_023785, VSP_023786; Note=No experimental confirmation available.; Name=3; IsoId=Q8IUD6-3; Sequence=VSP_045359, VSP_045360; Note=No experimental confirmation available.; 


uniprotID: Q8WXC3
geneSymbol: PYDC1
pdb: 2HM2;4QOB;
sequence: MGTKREAILKVLENLTPEELKKFKMKLGTVPLREGFERIPRGALGQLDIVDLTDKLVASYYEDYAAELVVAVLRDMRMLEEAARLQRAA
length: 89
go: ENSG00000169900;
name:
Pyrin domain-containing protein 1 (PAAD-only protein 1) (Pyrin-only protein 1) (cellular POP1) (cPOP1)

opentargets:
cytosol [GO:0005829]; IkappaB kinase complex [GO:0008385]; nucleus [GO:0005634]; innate immune response [GO:0045087]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; positive regulation of interleukin-1 beta secretion [GO:0050718]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12656673}. Note=Recruited to specks formed by PYCARD within the cytoplasm. {ECO:0000269|PubMed:17178784}.


uniprotID: Q9BRP8
geneSymbol: PYM1
length: 204
go: ENSG00000170473;
snps: rs3802998
name:
Partner of Y14 and mago (PYM homolog 1 exon junction complex-associated factor) (Protein wibg homolog)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; exon-exon junction complex [GO:0035145]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; exon-exon junction complex disassembly [GO:1903259]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of translation [GO:0045727]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRP8-1; Sequence=Displayed; Name=2; IsoId=Q9BRP8-2; Sequence=VSP_025430; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14968132, ECO:0000269|PubMed:18026120}. Nucleus, nucleolus {ECO:0000269|PubMed:14968132}. Nucleus, nucleoplasm {ECO:0000269|PubMed:14968132}. Note=Shuttles between the nucleus and the cytoplasm (PubMed:14968132). Nuclear export is mediated by XPO1/CRM1 (PubMed:14968132). {ECO:0000269|PubMed:14968132}.


uniprotID: P20742
geneSymbol: PZP
name: Pregnancy zone protein (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 6)
length: 1482
go: ENSG00000126838;
snps: rs12230214 rs3213832 rs2277413 rs3213831 rs57006764 rs200477595 rs2377741 rs10842971
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; female pregnancy [GO:0007565]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20742-1; Sequence=Displayed; Name=2; IsoId=P20742-2; Sequence=VSP_030862, VSP_030863, VSP_030864; Note=No experimental confirmation available.; 


uniprotID: Q2TAL8
geneSymbol: QRICH1
name: Glutamine-rich protein 1
length: 776
go: ENSG00000198218;
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; cytoskeleton organization [GO:0007010]; regulation of cell morphogenesis [GO:0022604]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: O96011
geneSymbol: PEX11B
length: 259
go: ENSG00000131779;
name:
Peroxisomal membrane protein 11B (Peroxin-11B) (Peroxisomal biogenesis factor 11B) (Protein PEX11 homolog beta) (PEX11-beta)

sequence:

opentargets:
integral component of peroxisomal membrane [GO:0005779]; membrane [GO:0016020]; mitochondrion [GO:0005739]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; protein-containing complex [GO:0032991]; protein homodimerization activity [GO:0042803]; peroxisome fission [GO:0016559]; peroxisome organization [GO:0007031]; protein homooligomerization [GO:0051260]; regulation of peroxisome size [GO:0044375]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O96011-1; Sequence=Displayed; Name=2; IsoId=O96011-2; Sequence=VSP_042860; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:20826455, ECO:0000269|PubMed:9792670, ECO:0000269|PubMed:9826565}; Single-pass membrane protein {ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:9792670, ECO:0000269|PubMed:9826565}.


uniprotID: Q8N2H3
geneSymbol: PYROXD2
name: Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 (EC 1.-.-.-)
length: 581
go: ENSG00000119943;
opentargets: oxidoreductase activity [GO:0016491]
snps: rs17856170 rs2147896 rs2296441
sequence:


uniprotID: P15151
geneSymbol: PVR
reactome: R-HSA-198933;R-HSA-420597;
pdb: 1DGI;1NN8;3EPC;3EPD;3EPF;3J8F;3J9F;3UDW;3URO;4FQP;
name: Poliovirus receptor (Nectin-like protein 5) (NECL-5) (CD antigen CD155)
length: 417
go: ENSG00000073008;
drug: DB08231;DB03203;
snps: rs1058402 rs35365841 rs203710
sequence:

opentargets:
cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; protein homodimerization activity [GO:0042803]; signaling receptor activity [GO:0038023]; virus receptor activity [GO:0001618]; adherens junction organization [GO:0034332]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002860]; regulation of immune response [GO:0050776]; susceptibility to natural killer cell mediated cytotoxicity [GO:0042271]; susceptibility to T cell mediated cytotoxicity [GO:0060370]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Alpha; IsoId=P15151-1; Sequence=Displayed; Name=Beta; IsoId=P15151-2; Sequence=VSP_002617; Name=Gamma; IsoId=P15151-3; Sequence=VSP_002618, VSP_002619; Name=Delta; IsoId=P15151-4; Sequence=VSP_002620, VSP_002621; 

location:
SUBCELLULAR LOCATION: Isoform Alpha: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform Delta: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform Beta: Secreted.; SUBCELLULAR LOCATION: Isoform Gamma: Secreted.


uniprotID: Q96D70
geneSymbol: R3HDM4
name: R3H domain-containing protein 4
length: 268
go: ENSG00000198858;
opentargets: nucleus [GO:0005634]; nucleic acid binding [GO:0003676]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9BRX8
geneSymbol: PRXL2A
length: 229
go: ENSG00000122378;
name:
Peroxiredoxin-like 2A (Peroxiredoxin-like 2 activated in M-CSF stimulated monocytes) (Protein PAMM) (Redox-regulatory protein FAM213A)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; antioxidant activity [GO:0016209]; oxidation-reduction process [GO:0055114]; regulation of osteoclast differentiation [GO:0045670]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRX8-1; Sequence=Displayed; Name=2; IsoId=Q9BRX8-2; Sequence=VSP_042229; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19951071}. Secreted {ECO:0000269|PubMed:26438880}. Note=Secreted from mature adipocytes but not from preadipocytes. {ECO:0000269|PubMed:26438880}.


uniprotID: Q13610
geneSymbol: PWP1
name: Periodic tryptophan protein 1 homolog (Keratinocyte protein IEF SSP 9502)
length: 501
go: ENSG00000136045;
snps: rs11547907
sequence:

opentargets:
chromosome [GO:0005694]; Golgi apparatus [GO:0005794]; nucleolus [GO:0005730]; nucleus [GO:0005634]; H4K20me3 modified histone binding [GO:1990889]; histone H4-K20 trimethylation [GO:0034773]; negative regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033140]; positive regulation of stem cell differentiation [GO:2000738]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]; ribosome biogenesis [GO:0042254]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13610-1; Sequence=Displayed; Name=2; IsoId=Q13610-2; Sequence=VSP_056168, VSP_056169; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7828893}. Nucleus, nucleolus {ECO:0000269|PubMed:29065309}. Chromosome {ECO:0000269|PubMed:29065309}. Note=Associates with chromatin regions of rDNA. {ECO:0000269|PubMed:29065309}.


uniprotID: Q53FA7
geneSymbol: TP53I3
reactome: R-HSA-6803205;
pdb: 2J8Z;2OBY;
length: 332
go: ENSG00000115129;
snps: rs899619458 rs35176319
name:
Quinone oxidoreductase PIG3 (EC 1.-.-.-) (Tumor protein p53-inducible protein 3) (p53-induced gene 3 protein)

sequence:

opentargets:
cytosol [GO:0005829]; NADPH binding [GO:0070402]; NADPH:quinone reductase activity [GO:0003960]; protein homodimerization activity [GO:0042803]; quinone binding [GO:0048038]; NADP metabolic process [GO:0006739]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=UV radiation favors the production of isoform 2.; Name=1; IsoId=Q53FA7-1; Sequence=Displayed; Note=Major isoform under normal light conditions.; Name=2; Synonyms=PIG3AS; IsoId=Q53FA7-2; Sequence=VSP_015783, VSP_015784; Note=Major isoform under UV light exposure. Undergoes rapid proteolytic degradation by the proteasome.; 


uniprotID: P31930
geneSymbol: UQCRC1
reactome: R-HSA-611105;
pdb: 5XTE;5XTH;5XTI;
length: 480
go: ENSG00000010256;
drug: DB08453;DB07778;DB07401;DB08330;DB04741;DB08690;
snps: rs17080284 rs144710790
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome b-c1 complex subunit 1, mitochondrial (Complex III subunit 1) (Core protein I) (Ubiquinol-cytochrome-c reductase complex core protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain [GO:0005746]; mitochondrial respiratory chain complex III [GO:0005750]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; protein-containing complex binding [GO:0044877]; ubiquinol-cytochrome-c reductase activity [GO:0008121]; ubiquitin protein ligase binding [GO:0031625]; aerobic respiration [GO:0009060]; mitochondrial electron transport, ubiquinol to cytochrome c [GO:0006122]; oxidation-reduction process [GO:0055114]; oxidative phosphorylation [GO:0006119]; response to activity [GO:0014823]; response to alkaloid [GO:0043279]


uniprotID: P06737
geneSymbol: PYGL
reactome: R-HSA-6798695;R-HSA-70221;
pdb: 1EM6;1EXV;1FA9;1FC0;1L5Q;1L5R;1L5S;1L7X;1XOI;2ATI;2QLL;2ZB2;3CEH;3CEJ;3CEM;3DD1;3DDS;3DDW;
name: Glycogen phosphorylase, liver form (EC 2.4.1.1)
length: 847
go: ENSG00000100504;
drug: DB02320;DB03288;DB00131;DB02379;DB02089;DB07968;DB04522;DB05044;DB00114;DB08844;
snps: rs946616 rs1042195 rs113993976 rs113993977 rs2228499 rs35831273 rs1042210 rs34313873 rs78558135
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; secretory granule lumen [GO:0034774]; AMP binding [GO:0016208]; ATP binding [GO:0005524]; bile acid binding [GO:0032052]; drug binding [GO:0008144]; glucose binding [GO:0005536]; glycogen phosphorylase activity [GO:0008184]; linear malto-oligosaccharide phosphorylase activity [GO:0102250]; protein homodimerization activity [GO:0042803]; purine nucleobase binding [GO:0002060]; pyridoxal phosphate binding [GO:0030170]; SHG alpha-glucan phosphorylase activity [GO:0102499]; vitamin binding [GO:0019842]; 5-phosphoribose 1-diphosphate biosynthetic process [GO:0006015]; glucose homeostasis [GO:0042593]; glycogen catabolic process [GO:0005980]; glycogen metabolic process [GO:0005977]; necroptotic process [GO:0070266]; neutrophil degranulation [GO:0043312]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P06737-1; Sequence=Displayed; Name=2; IsoId=P06737-2; Sequence=VSP_045339; Note=No experimental confirmation available.; 


uniprotID: P55042
geneSymbol: RRAD
pdb: 2DPX;2GJS;3Q72;3Q7P;3Q7Q;
name: GTP-binding protein RAD (RAD1) (Ras associated with diabetes)
length: 308
go: ENSG00000166592;
snps: rs7198458
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}.
sequence:

opentargets:
intracellular [GO:0005622]; plasma membrane [GO:0005886]; calmodulin binding [GO:0005516]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; negative regulation of high voltage-gated calcium channel activity [GO:1901842]; small GTPase mediated signal transduction [GO:0007264]


uniprotID: Q6NVV1
geneSymbol: RPL13AP3
name: Putative 60S ribosomal protein L13a protein RPL13AP3 (60S ribosomal protein L13a pseudogene 3)
length: 102
sequence:
MLRHKTKRGHASLDCLKVFDGIPPPYDKKKRMVVPAALKVVRLKPTRKFALLGRQAQEVRWKYQAVTATLEEKRKEKAKIHYWKKKQLMRLRKQAEKNVKKN

opentargets:
cytosolic large ribosomal subunit [GO:0022625]; nucleus [GO:0005634]; ribosome [GO:0005840]; mRNA binding [GO:0003729]; structural constituent of ribosome [GO:0003735]; negative regulation of translation [GO:0017148]; translation [GO:0006412]


uniprotID: Q92930
geneSymbol: RAB8B
reactome: R-HSA-8854214;R-HSA-8873719;R-HSA-8876198;
name: Ras-related protein Rab-8B
length: 207
go: ENSG00000166128;
drug: DB04315;DB02082;
sequence:

opentargets:
cell tip [GO:0051286]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; peroxisomal membrane [GO:0005778]; phagocytic vesicle [GO:0045335]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; synaptic vesicle [GO:0008021]; trans-Golgi network transport vesicle [GO:0030140]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; signaling receptor binding [GO:0005102]; TPR domain binding [GO:0030911]; adherens junction organization [GO:0034332]; antigen processing and presentation [GO:0019882]; cellular response to insulin stimulus [GO:0032869]; Golgi vesicle fusion to target membrane [GO:0048210]; intracellular protein transport [GO:0006886]; positive regulation of cell projection organization [GO:0031346]; positive regulation of corticotropin secretion [GO:0051461]; protein import into peroxisome membrane [GO:0045046]; protein localization to plasma membrane [GO:0072659]; protein secretion [GO:0009306]; Rab protein signal transduction [GO:0032482]; regulation of exocytosis [GO:0017157]; vesicle docking involved in exocytosis [GO:0006904]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasmic vesicle, phagosome {ECO:0000269|PubMed:21255211}. Cytoplasmic vesicle, phagosome membrane {ECO:0000269|PubMed:21255211}; Lipid-anchor {ECO:0000269|PubMed:21255211}; Cytoplasmic side {ECO:0000269|PubMed:21255211}. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis.


uniprotID: Q6ZRP7
geneSymbol: QSOX2
length: 698
go: ENSG00000165661;
snps: rs12380852
name:
Sulfhydryl oxidase 2 (EC 1.8.3.2) (Neuroblastoma-derived sulfhydryl oxidase) (Quiescin Q6-like protein 1)

sequence:

opentargets:
extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; integral component of Golgi membrane [GO:0030173]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; flavin-linked sulfhydryl oxidase activity [GO:0016971]; protein disulfide isomerase activity [GO:0003756]; cell redox homeostasis [GO:0045454]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:14633699}; Single-pass membrane protein {ECO:0000269|PubMed:14633699}. Secreted {ECO:0000269|PubMed:14633699}. Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Nucleus membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=Seems to be predominantly targeted to the nuclear and outer plasma membrane.


uniprotID: Q15293
geneSymbol: RCN1
reactome: R-HSA-381426;R-HSA-8957275;
name: Reticulocalbin-1
length: 331
go: ENSG00000049449;
snps: rs1804281
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; calcium ion binding [GO:0005509]; camera-type eye development [GO:0043010]; cellular protein metabolic process [GO:0044267]; in utero embryonic development [GO:0001701]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15293-1; Sequence=Displayed; Name=2; IsoId=Q15293-2; Sequence=VSP_055511; Note=No experimental confirmation available.; 


uniprotID: P62877
geneSymbol: RBX1
pdb: 1LDJ;1LDK;1U6G;2HYE;2LGV;3DPL;3DQV;3RTR;4F52;4P5O;5N4W;
length: 108
go: ENSG00000100387;
reactome:
R-HSA-110314;R-HSA-1170546;R-HSA-1234176;R-HSA-180585;R-HSA-195253;R-HSA-2122947;R-HSA-2644606;R-HSA-2644607;R-HSA-2894862;R-HSA-4641258;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5632684;R-HSA-5658442;R-HSA-5696394;R-HSA-5696395;R-HSA-5696400;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-68949;R-HSA-8854050;R-HSA-8939902;R-HSA-8951664;R-HSA-9010553;R-HSA-9020702;R-HSA-9604323;R-HSA-983168;

name:
E3 ubiquitin-protein ligase RBX1 (EC 2.3.2.27) (EC 2.3.2.32) (E3 ubiquitin-protein transferase RBX1) (Protein ZYP) (RING finger protein 75) (RING-box protein 1) (Rbx1) (Regulator of cullins 1) (ROC1) [Cleaved into: E3 ubiquitin-protein ligase RBX1, N-terminally processed (E3 ubiquitin-protein transferase RBX1, N-terminally processed)]

sequence:
MAAAMDVDTPSGTNSGAGKKRFEVKKWNAVALWAWDIVVDNCAICRNHIMDLCIECQANQASATSEECTVAWGVCNHAFHFHCISRWLKTRQVCPLDNREWEFQKYGH

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; Cul3-RING ubiquitin ligase complex [GO:0031463]; Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; Cul4B-RING E3 ubiquitin ligase complex [GO:0031465]; Cul5-RING ubiquitin ligase complex [GO:0031466]; Cul7-RING ubiquitin ligase complex [GO:0031467]; cullin-RING ubiquitin ligase complex [GO:0031461]; cytosol [GO:0005829]; nuclear SCF ubiquitin ligase complex [GO:0043224]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SCF ubiquitin ligase complex [GO:0019005]; VCB complex [GO:0030891]; cullin family protein binding [GO:0097602]; NEDD8 transferase activity [GO:0019788]; protein-containing complex binding [GO:0044877]; transcription factor binding [GO:0008134]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; ubiquitin-ubiquitin ligase activity [GO:0034450]; zinc ion binding [GO:0008270]; DNA damage response, detection of DNA damage [GO:0042769]; global genome nucleotide-excision repair [GO:0070911]; interleukin-1-mediated signaling pathway [GO:0070498]; MAPK cascade [GO:0000165]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of G2/M transition of mitotic cell cycle [GO:0010972]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein monoubiquitination [GO:0006513]; protein neddylation [GO:0045116]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; SCF complex assembly [GO:0010265]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; transcription-coupled nucleotide-excision repair [GO:0006283]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11027288}. Nucleus {ECO:0000269|PubMed:11027288}.


uniprotID: Q14699
geneSymbol: RFTN1
name: Raftlin (Cell migration-inducing gene 2 protein) (Raft-linking protein)
length: 578
go: ENSG00000131378;
snps: rs34276015 rs11554130
sequence:

opentargets:
cytoplasm [GO:0005737]; early endosome [GO:0005769]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; double-stranded RNA binding [GO:0003725]; B cell receptor signaling pathway [GO:0050853]; dsRNA transport [GO:0033227]; interleukin-17 production [GO:0032620]; membrane raft assembly [GO:0001765]; positive regulation of growth rate [GO:0040010]; protein localization to membrane raft [GO:1903044]; protein transport into membrane raft [GO:0032596]; response to exogenous dsRNA [GO:0043330]; T cell antigen processing and presentation [GO:0002457]; T cell receptor signaling pathway [GO:0050852]; toll-like receptor 3 signaling pathway [GO:0034138]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12805216, ECO:0000269|PubMed:21266579, ECO:0000269|PubMed:27022195}; Lipid-anchor {ECO:0000269|PubMed:12805216}. Cytoplasm {ECO:0000269|PubMed:21266579, ECO:0000269|PubMed:27022195}. Membrane raft {ECO:0000269|PubMed:12805216}. Endosome {ECO:0000269|PubMed:21266579, ECO:0000269|PubMed:27022195}. Early endosome {ECO:0000269|PubMed:21266579}. Note=Translocates from cytoplasm to cell membrane where it colocalizes with poly (I:C) and then moves to endosomes where it colocalizes with TLR3 (PubMed:21266579). Translocates from cytoplasm to cell membrane where it colocalizes with TLR4 and then together with TLR4 moves to endosomes, upon lipopolysaccharide stimulation (PubMed:27022195). {ECO:0000269|PubMed:21266579, ECO:0000269|PubMed:27022195}.


uniprotID: O75678
geneSymbol: RFPL2
name: Ret finger protein-like 2 (RING finger protein 79)
length: 378
go: ENSG00000128253;
opentargets: metal ion binding [GO:0046872]
snps: rs8135276 rs136478 rs56240743 rs136472 rs136470 rs136468 rs136467
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75678-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=O75678-2; Sequence=VSP_059822, VSP_059823; 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=O75678-3; Sequence=VSP_038326, VSP_038327; Note=May be due to intron retention.; 


uniprotID: P35251
geneSymbol: RFC1
pdb: 2EBU;2K6G;2K7F;
length: 1148
go: ENSG00000035928;
snps: rs2066791 rs1057747 rs11932767 rs17335452 rs17288828
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-110312;R-HSA-110314;R-HSA-110320;R-HSA-174411;R-HSA-5651801;R-HSA-5655862;R-HSA-5656121;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-69091;

name:
Replication factor C subunit 1 (Activator 1 140 kDa subunit) (A1 140 kDa subunit) (Activator 1 large subunit) (Activator 1 subunit 1) (DNA-binding protein PO-GA) (Replication factor C 140 kDa subunit) (RF-C 140 kDa subunit) (RFC140) (Replication factor C large subunit)

sequence:

opentargets:
cytoplasm [GO:0005737]; DNA replication factor C complex [GO:0005663]; Elg1 RFC-like complex [GO:0031391]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA clamp loader activity [GO:0003689]; DNA clamp unloader activity [GO:0061860]; double-stranded DNA binding [GO:0003690]; enzyme activator activity [GO:0008047]; protein domain specific binding [GO:0019904]; sequence-specific DNA binding [GO:0043565]; DNA clamp unloading [GO:0090618]; DNA damage response, detection of DNA damage [GO:0042769]; DNA-dependent DNA replication [GO:0006261]; error-free translesion synthesis [GO:0070987]; error-prone translesion synthesis [GO:0042276]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; positive regulation of transcription, DNA-templated [GO:0045893]; telomere maintenance via semi-conservative replication [GO:0032201]; telomere maintenance via telomerase [GO:0007004]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35251-1; Sequence=Displayed; Name=2; IsoId=P35251-2; Sequence=VSP_008443; Note=Alternative use of an acceptor site.; 


uniprotID: P35250
geneSymbol: RFC2
length: 354
go: ENSG00000049541;
snps: rs3135684
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
reactome:
R-HSA-110312;R-HSA-110314;R-HSA-110320;R-HSA-174411;R-HSA-176187;R-HSA-5651801;R-HSA-5655862;R-HSA-5656121;R-HSA-5656169;R-HSA-5685938;R-HSA-5685942;R-HSA-5693607;R-HSA-5693616;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-6804756;R-HSA-69091;R-HSA-69473;

name:
Replication factor C subunit 2 (Activator 1 40 kDa subunit) (A1 40 kDa subunit) (Activator 1 subunit 2) (Replication factor C 40 kDa subunit) (RF-C 40 kDa subunit) (RFC40)

sequence:

opentargets:
Ctf18 RFC-like complex [GO:0031390]; DNA replication factor C complex [GO:0005663]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; DNA damage response, detection of DNA damage [GO:0042769]; DNA replication [GO:0006260]; DNA-dependent DNA replication [GO:0006261]; error-free translesion synthesis [GO:0070987]; error-prone translesion synthesis [GO:0042276]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; positive regulation of DNA-directed DNA polymerase activity [GO:1900264]; telomere maintenance via semi-conservative replication [GO:0032201]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35250-1; Sequence=Displayed; Name=2; IsoId=P35250-2; Sequence=VSP_005660; Note=No experimental confirmation available.; 


uniprotID: Q99666
geneSymbol: RGPD5; RGPD6
length: 1765
go: ENSG00000015568;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15710750}.
name:
RANBP2-like and GRIP domain-containing protein 5/6 (Ran-binding protein 2-like 1/2) (RanBP2-like 1/2) (RanBP2L1) (RanBP2L2) (Sperm membrane protein BS-63)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nuclear pore [GO:0005643]; nucleus [GO:0005634]; Ran GTPase binding [GO:0008536]; NLS-bearing protein import into nucleus [GO:0006607]; positive regulation of GTPase activity [GO:0043547]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99666-1; Sequence=Displayed; Name=2; IsoId=Q99666-2; Sequence=VSP_038968, VSP_038969; 


uniprotID: P49798
geneSymbol: RGS4
reactome: R-HSA-418594;R-HSA-418597;
name: Regulator of G-protein signaling 4 (RGP4) (RGS4)
length: 205
go: ENSG00000117152;
snps: rs14665
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; calmodulin binding [GO:0005516]; G-protein alpha-subunit binding [GO:0001965]; GTPase activator activity [GO:0005096]; brain development [GO:0007420]; dorsal root ganglion development [GO:1990791]; G protein-coupled receptor signaling pathway [GO:0007186]; inactivation of MAPK activity [GO:0000188]; negative regulation of cell growth involved in cardiac muscle cell development [GO:0061052]; negative regulation of dopamine receptor signaling pathway [GO:0060160]; negative regulation of glycine import across plasma membrane [GO:1900924]; negative regulation of potassium ion transmembrane transport [GO:1901380]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of heart rate [GO:0010460]; regulation of actin filament organization [GO:0110053]; regulation of calcium ion transport [GO:0051924]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; response to amphetamine [GO:0001975]; response to cocaine [GO:0042220]; response to ethanol [GO:0045471]; response to morphine [GO:0043278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=May be produced by alternative promoter usage.; Name=1; Synonyms=B; IsoId=P49798-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=P49798-2; Sequence=VSP_043856; Name=3; Synonyms=C; IsoId=P49798-3; Sequence=VSP_043853; Name=4; IsoId=P49798-4; Sequence=VSP_043855; Name=5; IsoId=P49798-5; Sequence=VSP_043854; 


uniprotID: Q6GYQ0
geneSymbol: RALGAPA1
length: 2036
go: ENSG00000174373;
snps: rs2274068
name:
Ral GTPase-activating protein subunit alpha-1 (GAP-related-interacting partner to E12) (GRIPE) (GTPase-activating Rap/Ran-GAP domain-like 1) (Tuberin-like protein 1) (p240)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; GTPase activator activity [GO:0005096]; protein heterodimerization activity [GO:0046982]; activation of GTPase activity [GO:0090630]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q6GYQ0-1; Sequence=Displayed; Name=2; IsoId=Q6GYQ0-2; Sequence=VSP_011328; Name=3; IsoId=Q6GYQ0-3; Sequence=VSP_011324, VSP_011325, VSP_011326; Note=No experimental confirmation available.; Name=4; IsoId=Q6GYQ0-4; Sequence=VSP_011327; Note=No experimental confirmation available.; Name=5; IsoId=Q6GYQ0-5; Sequence=VSP_011329; Note=No experimental confirmation available.; Name=6; IsoId=Q6GYQ0-6; Sequence=VSP_011324; Name=7; IsoId=Q6GYQ0-7; Sequence=VSP_054485; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Translocated to the nucleus, when associated with TCF3/E12. {ECO:0000250}.


uniprotID: P47804
geneSymbol: RGR
reactome: R-HSA-418594;R-HSA-419771;
name: RPE-retinal G protein-coupled receptor
length: 291
go: ENSG00000148604;
snps: rs150808273
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled photoreceptor activity [GO:0008020]; G protein-coupled receptor activity [GO:0004930]; cellular response to light stimulus [GO:0071482]; G protein-coupled receptor signaling pathway [GO:0007186]; phototransduction [GO:0007602]; protein-chromophore linkage [GO:0018298]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Short; IsoId=P47804-1; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=P47804-2; Sequence=VSP_003773; Name=3; IsoId=P47804-3; Sequence=VSP_038387; 


uniprotID: O14924
geneSymbol: RGS12
reactome: R-HSA-418594;
pdb: 2EBZ;2KV8;
name: Regulator of G-protein signaling 12 (RGS12)
length: 1447
go: ENSG00000159788;
snps: rs7679941 rs16844152 rs2269497
sequence:

opentargets:
cell junction [GO:0030054]; condensed nuclear chromosome [GO:0000794]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleus [GO:0005634]; synapse [GO:0045202]; GTPase activator activity [GO:0005096]; GTPase regulator activity [GO:0030695]; negative regulation of signal transduction [GO:0009968]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=RGS12TS-L, TS, trans-spliced; IsoId=O14924-1; Sequence=Displayed; Name=2; Synonyms=P, peripheral; IsoId=O14924-2; Sequence=VSP_005682, VSP_005683; Name=3; Synonyms=B, brain; IsoId=O14924-3; Sequence=VSP_005684, VSP_005685; Name=4; IsoId=O14924-4; Sequence=VSP_005686, VSP_005687; Name=5; Synonyms=RGS12TS-S; IsoId=O14924-5; Sequence=VSP_047743, VSP_047744; Name=6; IsoId=O14924-6; Sequence=VSP_047741, VSP_047742, VSP_047743, VSP_047744; Name=7; IsoId=O14924-7; Sequence=VSP_005682, VSP_005683, VSP_047743, VSP_047744; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10869340}. Cytoplasm {ECO:0000250|UniProtKB:O08774}. Cell projection, dendrite {ECO:0000250|UniProtKB:O08774}. Cell junction, synapse {ECO:0000250|UniProtKB:O08774}.; SUBCELLULAR LOCATION: Isoform 5: Nucleus matrix {ECO:0000269|PubMed:12024043}. Note=Also localized to discrete nuclear foci that are distinct from sites of RNA processing, PML nuclear bodies, and PcG domains. {ECO:0000269|PubMed:12024043}.


uniprotID: O43566
geneSymbol: RGS14
reactome: R-HSA-418594;
pdb: 2JNU;2OM2;2XNS;3ONW;3QI2;
name: Regulator of G-protein signaling 14 (RGS14)
length: 566
go: ENSG00000169220;
sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; microtubule [GO:0005874]; nuclear body [GO:0016604]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; PML body [GO:0016605]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; spindle [GO:0005819]; spindle pole [GO:0000922]; G-protein alpha-subunit binding [GO:0001965]; GDP-dissociation inhibitor activity [GO:0005092]; GTPase activating protein binding [GO:0032794]; GTPase activator activity [GO:0005096]; microtubule binding [GO:0008017]; protein kinase binding [GO:0019901]; receptor signaling complex scaffold activity [GO:0030159]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; intracellular signal transduction [GO:0035556]; learning [GO:0007612]; long-term memory [GO:0007616]; long-term synaptic potentiation [GO:0060291]; mitotic cell cycle [GO:0000278]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of G protein-coupled receptor signaling pathway [GO:0045744]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of synaptic plasticity [GO:0031914]; nucleocytoplasmic transport [GO:0006913]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of neurogenesis [GO:0050769]; regulation of DNA-templated transcription in response to stress [GO:0043620]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; response to oxidative stress [GO:0006979]; spindle organization [GO:0007051]; visual learning [GO:0008542]; zygote asymmetric cell division [GO:0010070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O43566-7; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=O43566-4; Sequence=VSP_027577, VSP_027578, VSP_027579; Name=3; IsoId=O43566-5; Sequence=VSP_027577, VSP_037959; Name=4; IsoId=O43566-6; Sequence=VSP_029426, VSP_037959; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus, PML body {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:15917656}. Membrane {ECO:0000250}. Cell membrane {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15917656}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=Associates with the perinuclear sheaths of microtubules (MTs) surrounding the pronuclei, prior to segregating to the anastral mitotic apparatus and subsequently the barrel-shaped cytoplasmic bridge between the nascent nuclei of the emerging 2-cell embryo. Localizes to a perinuclear compartment near the microtubule-organizing center (MTOC). Expressed in the nucleus during interphase and segregates to the centrosomes and astral MTs during mitosis. Relocalizes to the nucleus in PML nuclear bodies in response to heat stress. Colocalizes with RIC8A in CA2 hippocampal neurons. Localizes to spindle poles during metaphase. Shuttles between the nucleus and cytoplasm in a CRM1-dependent manner. Recruited from the cytosol to the plasma membrane by the inactive GDP-bound forms of G(i) alpha subunits GNAI1 and GNAI3. Recruited from the cytosol to membranes by the active GTP-bound form of HRAS. Colocalizes with G(i) alpha subunit GNAI1 and RIC8A at the plasma membrane. Colocalizes with BRAF and RAF1 in both the cytoplasm and membranes (By similarity). {ECO:0000250}.


uniprotID: Q6PJF5
geneSymbol: RHBDF2
length: 856
go: ENSG00000129667;
snps: rs387907129 rs387907130 rs3744045 rs34814954 rs11553545
name:
Inactive rhomboid protein 2 (iRhom2) (Rhomboid 5 homolog 2) (Rhomboid family member 2) (Rhomboid veinlet-like protein 5) (Rhomboid veinlet-like protein 6)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; growth factor binding [GO:0019838]; negative regulation of protein secretion [GO:0050709]; protein transport [GO:0015031]; proteolysis [GO:0006508]; regulation of epidermal growth factor receptor signaling pathway [GO:0042058]; regulation of protein secretion [GO:0050708]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PJF5-1; Sequence=Displayed; Name=2; IsoId=Q6PJF5-2; Sequence=VSP_034368; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:22265016}.


uniprotID: Q8TCX5
geneSymbol: RHPN1
reactome: R-HSA-5666185;
name: Rhophilin-1 (GTP-Rho-binding protein 1)
length: 670
go: ENSG00000158106;
opentargets: cytosol [GO:0005829]; signal transduction [GO:0007165]
sequence:


uniprotID: P42331
geneSymbol: ARHGAP25
reactome: R-HSA-194840;
pdb: 1V89;
name: Rho GTPase-activating protein 25 (Rho-type GTPase-activating protein 25)
length: 645
go: ENSG00000163219;
snps: rs3749130 rs4241344 rs10177248
sequence:

opentargets:
cytosol [GO:0005829]; phagocytic cup [GO:0001891]; GTPase activator activity [GO:0005096]; actin filament organization [GO:0007015]; negative regulation of small GTPase mediated signal transduction [GO:0051058]; phagocytosis, engulfment [GO:0006911]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P42331-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=P42331-2; Sequence=VSP_037345, VSP_010275, VSP_010276; Note=No experimental confirmation available.; Name=3; IsoId=P42331-3; Sequence=VSP_037345; Name=4; IsoId=P42331-4; Sequence=VSP_010275; Name=5; IsoId=P42331-5; Sequence=VSP_045391; Note=No experimental confirmation available.; Name=6; IsoId=P42331-6; Sequence=VSP_037345, VSP_010275; Note=No experimental confirmation available. Gene prediction based on cDNA data.; 


uniprotID: Q9H310
geneSymbol: RHBG
reactome: R-HSA-444411;
length: 441
snps: rs2245623 rs11586833 rs3748569 rs3748567
name:
Ammonium transporter Rh type B (Rhesus blood group family type B glycoprotein) (Rh family type B glycoprotein) (Rh type B glycoprotein)

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; basolateral plasma membrane [GO:0016323]; cytoplasmic vesicle membrane [GO:0030659]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; spectrin-associated cytoskeleton [GO:0014731]; ammonium transmembrane transporter activity [GO:0008519]; ankyrin binding [GO:0030506]; ammonium transmembrane transport [GO:0072488]; ammonium transport [GO:0015696]; transepithelial ammonium transport [GO:0070634]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9H310-1; Sequence=Displayed; Name=2; Synonyms=RhBG-2A; IsoId=Q9H310-2; Sequence=VSP_024341, VSP_024342; Note=No experimental confirmation available.; Name=3; IsoId=Q9H310-3; Sequence=VSP_024340, VSP_024343; Note=No experimental confirmation available.; Name=4; Synonyms=RhBG-1A; IsoId=Q9H310-4; Sequence=VSP_024340; Name=5; IsoId=Q9H310-5; Sequence=VSP_024340, VSP_037136; 

location:
SUBCELLULAR LOCATION: Basolateral cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein.


uniprotID: Q13017
geneSymbol: ARHGAP5
reactome: R-HSA-194840;
pdb: 2EE4;2EE5;5U4V;
name: Rho GTPase-activating protein 5 (Rho-type GTPase-activating protein 5) (p190-B)
length: 1502
go: ENSG00000100852;
snps: rs17386818
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activator activity [GO:0005096]; GTPase activity [GO:0003924]; SH2 domain binding [GO:0042169]; cell adhesion [GO:0007155]; mammary gland development [GO:0030879]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13017-1; Sequence=Displayed; Name=2; IsoId=Q13017-2; Sequence=VSP_034166; Note=No experimental confirmation available.; Name=3; IsoId=Q13017-3; Sequence=VSP_034164, VSP_034167; Note=No experimental confirmation available.; Name=4; IsoId=Q13017-4; Sequence=VSP_034165; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8537347}. Cell membrane {ECO:0000269|PubMed:8537347}; Peripheral membrane protein {ECO:0000269|PubMed:8537347}. Note=Also membrane-associated in a fibrillar pattern that colocalizes with the alpha5-beta1 integrin receptor (ITGA5/ITGB1) for fibronectin. {ECO:0000269|PubMed:8537347}.


uniprotID: A1A4S6
geneSymbol: ARHGAP10
reactome: R-HSA-194840;R-HSA-211728;
pdb: 2MIO;
length: 786
go: ENSG00000071205;
snps: rs17024215 rs2276932
name:
Rho GTPase-activating protein 10 (GTPase regulator associated with focal adhesion kinase 2) (Graf-related protein 2) (Rho-type GTPase-activating protein 10)

sequence:

opentargets:
cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; cytoskeleton organization [GO:0007010]; negative regulation of apoptotic process [GO:0043066]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Association to cell membrane is dependent on PH domain. {ECO:0000250}.


uniprotID: Q6ZRI8
geneSymbol: ARHGAP36
reactome: R-HSA-194840;
name: Rho GTPase-activating protein 36
length: 547
go: ENSG00000147256;
sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6ZRI8-1; Sequence=Displayed; Name=2; IsoId=Q6ZRI8-2; Sequence=VSP_021358; Name=3; IsoId=Q6ZRI8-3; Sequence=VSP_021357; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZRI8-4; Sequence=VSP_039236; Note=No experimental confirmation available.; Name=5; IsoId=Q6ZRI8-5; Sequence=VSP_039235; Note=No experimental confirmation available.; 


uniprotID: Q9C0H5
geneSymbol: ARHGAP39
reactome: R-HSA-194840;R-HSA-428543;
name: Rho GTPase-activating protein 39
length: 1083
go: ENSG00000147799;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; nucleus [GO:0005634]; GTPase activator activity [GO:0005096]; postsynapse organization [GO:0099173]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0H5-1; Sequence=Displayed; Name=2; IsoId=Q9C0H5-2; Sequence=VSP_040749; 


uniprotID: Q7L0Q8
geneSymbol: RHOU
reactome: R-HSA-194840;R-HSA-6785807;
pdb: 2Q3H;
length: 258
go: ENSG00000116574;
snps: rs3820264
name:
Rho-related GTP-binding protein RhoU (CDC42-like GTPase 1) (GTP-binding protein-like 1) (Rho GTPase-like protein ARHU) (Ryu GTPase) (Wnt-1 responsive Cdc42 homolog 1) (WRCH-1)

sequence:

opentargets:
cell cortex [GO:0005938]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; podosome [GO:0002102]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; actin cytoskeleton organization [GO:0030036]; actin filament organization [GO:0007015]; Cdc42 protein signal transduction [GO:0032488]; cell projection assembly [GO:0030031]; cytokine-mediated signaling pathway [GO:0019221]; cytoskeleton organization [GO:0007010]; endocytosis [GO:0006897]; establishment or maintenance of cell polarity [GO:0007163]; G1/S transition of mitotic cell cycle [GO:0000082]; positive regulation of protein targeting to mitochondrion [GO:1903955]; Rac protein signal transduction [GO:0016601]; regulation of cell shape [GO:0008360]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:11459829, ECO:0000269|PubMed:11894124, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14731133, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5, ECO:0000269|Ref.6}; IsoId=Q7L0Q8-1; Sequence=Displayed; Name=2; IsoId=Q7L0Q8-2; Sequence=VSP_052732, VSP_052733; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16046391, ECO:0000269|PubMed:16472646, ECO:0000269|PubMed:17620058}; Lipid-anchor {ECO:0000269|PubMed:16046391, ECO:0000269|PubMed:16472646, ECO:0000269|PubMed:17620058}; Cytoplasmic side {ECO:0000269|PubMed:16046391, ECO:0000269|PubMed:16472646, ECO:0000269|PubMed:17620058}. Golgi apparatus membrane {ECO:0000269|PubMed:16046391, ECO:0000269|PubMed:16472646, ECO:0000269|PubMed:17620058}; Lipid-anchor {ECO:0000269|PubMed:16046391, ECO:0000269|PubMed:16472646, ECO:0000269|PubMed:17620058}. Cell junction, focal adhesion {ECO:0000269|PubMed:16046391, ECO:0000269|PubMed:16472646, ECO:0000269|PubMed:17620058}. Cell projection, podosome {ECO:0000269|PubMed:16046391, ECO:0000269|PubMed:16472646, ECO:0000269|PubMed:17620058}. Note=Localizes to podosomes in SRC-transformed cells. {ECO:0000269|PubMed:16046391, ECO:0000269|PubMed:16472646, ECO:0000269|PubMed:17620058}.


uniprotID: Q56P42
geneSymbol: PYDC2
name: Pyrin domain-containing protein 2 (Pyrin-only protein 2) (cellular POP2) (cPOP2)
sequence: MASSAELDFNLQALLEQLSQDELSKFKSLIRTISLGKELQTVPQTEVDKANGKQLVEIFTSHSCSYWAGMAAIQVFEKMNQTHLSGRADEHCVMPPP
length: 97
snps: rs293833
opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of NLRP3 inflammasome complex assembly [GO:1900226]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17178784, ECO:0000269|PubMed:17339483}. Nucleus {ECO:0000269|PubMed:17178784, ECO:0000269|PubMed:17339483}. Note=Recruited to specks formed by PYCARD within the cytoplasm. {ECO:0000269|PubMed:17178784}.


uniprotID: Q6DKI7
geneSymbol: PVRIG
length: 326
go: ENSG00000213413;
snps: rs2906645
name:
Transmembrane protein PVRIG (CD112 receptor) (CD112R) (Poliovirus receptor-related immunoglobulin domain-containing protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; phosphatase binding [GO:0019902]; signaling receptor activity [GO:0038023]; negative regulation of T cell receptor signaling pathway [GO:0050860]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26755705}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q9UNT1
geneSymbol: RABL2B
name: Rab-like protein 2B
length: 228
go: ENSG00000079974;
sequence:

opentargets:
centriole [GO:0005814]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; pericentriolar material [GO:0000242]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cilium assembly [GO:0060271]; intracellular protein transport [GO:0006886]; intraciliary transport [GO:0042073]; Rab protein signal transduction [GO:0032482]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UNT1-1; Sequence=Displayed; Name=2; IsoId=Q9UNT1-2; Sequence=VSP_005532; Name=3; IsoId=Q9UNT1-3; Sequence=VSP_041061; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:28428259}. Cytoplasm {ECO:0000269|PubMed:28625565}. Note=Localizes on the mother centriole. Localizes slightly apical to the subdistal appendage, but below the distal appendage. {ECO:0000269|PubMed:28625565}.


uniprotID: P04049
geneSymbol: RAF1
pdb: 1C1Y;1FAQ;1FAR;1GUA;1RFA;3CU8;3IQJ;3IQU;3IQV;3KUC;3KUD;3NKX;3O8I;3OMV;4FJ3;4G0N;4G3X;4IEA;4IHL;
length: 648
go: ENSG00000132155;
drug: DB08912;DB05268;DB04973;DB08896;DB00398;DB05190;
reactome:
R-HSA-2672351;R-HSA-392517;R-HSA-430116;R-HSA-442742;R-HSA-5621575;R-HSA-5673000;R-HSA-5674135;R-HSA-5674499;R-HSA-5675221;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

name:
RAF proto-oncogene serine/threonine-protein kinase (EC 2.7.11.1) (Proto-oncogene c-RAF) (cRaf) (Raf-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; pseudopodium [GO:0031143]; adenylate cyclase activator activity [GO:0010856]; adenylate cyclase binding [GO:0008179]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; MAP kinase kinase kinase activity [GO:0004709]; metal ion binding [GO:0046872]; mitogen-activated protein kinase kinase binding [GO:0031434]; protein heterodimerization activity [GO:0046982]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; activation of adenylate cyclase activity [GO:0007190]; activation of MAPKK activity [GO:0000186]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; death-inducing signaling complex assembly [GO:0071550]; face development [GO:0060324]; heart development [GO:0007507]; insulin secretion involved in cellular response to glucose stimulus [GO:0035773]; intermediate filament cytoskeleton organization [GO:0045104]; ion transmembrane transport [GO:0034220]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of protein complex assembly [GO:0031333]; neurotrophin TRK receptor signaling pathway [GO:0048011]; platelet activation [GO:0030168]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; regulation of apoptotic process [GO:0042981]; regulation of cell differentiation [GO:0045595]; regulation of cell motility [GO:2000145]; regulation of Rho protein signal transduction [GO:0035023]; response to hypoxia [GO:0001666]; response to muscle stretch [GO:0035994]; signal transduction [GO:0007165]; somatic stem cell population maintenance [GO:0035019]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; wound healing [GO:0042060]

snps:
rs587777588 rs397516826 rs80338796 rs397516827 rs869025501 rs121434594 rs397516828 rs121434594 rs5746220 rs778155315 rs1057403865 rs397516815 rs80338798 rs80338799 rs80338799 rs587777586 rs80338797 rs587777587 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=6C; IsoId=P04049-1; Sequence=Displayed; Name=2; Synonyms=1A; IsoId=P04049-2; Sequence=VSP_034649; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Mitochondrion. Nucleus. Note=Colocalizes with RGS14 and BRAF in both the cytoplasm and membranes. Phosphorylation at Ser-259 impairs its membrane accumulation. Recruited to the cell membrane by the active Ras protein. Phosphorylation at Ser-338 and Ser-339 by PAK1 is required for its mitochondrial localization. Retinoic acid-induced Ser-621 phosphorylated form of RAF1 is predominantly localized at the nucleus.


uniprotID: Q06609
geneSymbol: RAD51
pdb: 1B22;1N0W;5H1B;5H1C;5JZC;5NP7;5NWL;
name: DNA repair protein RAD51 homolog 1 (HsRAD51) (hRAD51) (RAD51 homolog A)
length: 339
go: ENSG00000051180;
drug: DB05216;DB04395;
snps: rs121917739 rs1057519413
reactome:
R-HSA-5685938;R-HSA-5685942;R-HSA-5693554;R-HSA-5693568;R-HSA-5693579;R-HSA-5693616;R-HSA-8953750;R-HSA-912446;

sequence:

opentargets:
chromatin [GO:0000785]; condensed chromosome [GO:0000793]; condensed nuclear chromosome [GO:0000794]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lateral element [GO:0000800]; microtubule organizing center [GO:0005815]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nuclear chromatin [GO:0000790]; nuclear chromosome [GO:0000228]; nuclear chromosome, telomeric region [GO:0000784]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; PML body [GO:0016605]; protein-containing complex [GO:0032991]; site of double-strand break [GO:0035861]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; DNA polymerase binding [GO:0070182]; DNA-dependent ATPase activity [GO:0008094]; double-stranded DNA binding [GO:0003690]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; protein C-terminus binding [GO:0008022]; recombinase activity [GO:0000150]; single-stranded DNA binding [GO:0003697]; single-stranded DNA-dependent ATPase activity [GO:0043142]; cellular response to camptothecin [GO:0072757]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to ionizing radiation [GO:0071479]; chromosome organization involved in meiotic cell cycle [GO:0070192]; DNA recombinase assembly [GO:0000730]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA unwinding involved in DNA replication [GO:0006268]; double-strand break repair via homologous recombination [GO:0000724]; interstrand cross-link repair [GO:0036297]; meiotic cell cycle [GO:0051321]; mitotic recombination [GO:0006312]; mitotic recombination-dependent replication fork processing [GO:1990426]; negative regulation of G0 to G1 transition [GO:0070317]; positive regulation of DNA ligation [GO:0051106]; protein homooligomerization [GO:0051260]; reciprocal meiotic recombination [GO:0007131]; regulation of double-strand break repair via homologous recombination [GO:0010569]; replication fork processing [GO:0031297]; strand invasion [GO:0042148]; telomere maintenance via recombination [GO:0000722]; telomere maintenance via telomere lengthening [GO:0010833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q06609-1; Sequence=Displayed; Name=2; IsoId=Q06609-2; Sequence=VSP_005556; Note=No experimental confirmation available.; Name=3; IsoId=Q06609-3; Sequence=VSP_041724, VSP_041725; Note=Mutagenesis of Arg-264 to Ala inhibits nuclear localization. Mutagenesis of Lys-264 to Gln inhibits nuclear localization. Deletion of 254-Arg-Lys-255 inhibits nuclear localization. {ECO:0000269|PubMed:18417535}; Name=4; IsoId=Q06609-4; Sequence=VSP_043655; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12442171, ECO:0000269|PubMed:15665856, ECO:0000269|PubMed:18417535, ECO:0000269|PubMed:19783859, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:26681308, ECO:0000269|PubMed:9192668}. Cytoplasm {ECO:0000269|PubMed:16215984, ECO:0000269|PubMed:26681308}. Cytoplasm, perinuclear region. Mitochondrion matrix {ECO:0000269|PubMed:20413593}. Chromosome {ECO:0000269|PubMed:23401855}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21276791}. Note=Colocalizes with RAD51AP1 and RPA2 to multiple nuclear foci upon induction of DNA damage (PubMed:20154705). DNA damage induces an increase in nuclear levels (PubMed:20154705). Together with FIGNL1, redistributed in discrete nuclear DNA damage-induced foci after ionizing radiation (IR) or camptothecin (CPT) treatment (PubMed:23754376). Accumulated at sites of DNA damage in a SPIDR-dependent manner (PubMed:23509288). Recruited at sites of DNA damage in a MCM9-MCM8-dependent manner (PubMed:23401855). {ECO:0000269|PubMed:20154705, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:23754376}.


uniprotID: P20340
geneSymbol: RAB6A
reactome: R-HSA-1912420;R-HSA-6798695;R-HSA-6811436;R-HSA-6811440;R-HSA-8854214;R-HSA-8873719;R-HSA-8876198;
pdb: 1YZQ;2GIL;3BBP;3CWZ;4DKX;5LEF;
name: Ras-related protein Rab-6A (Rab-6)
length: 208
go: ENSG00000175582;
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; endosome to plasma membrane transport vesicle [GO:0070381]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; myosin V binding [GO:0031489]; protein domain specific binding [GO:0019904]; antigen processing and presentation [GO:0019882]; early endosome to Golgi transport [GO:0034498]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; minus-end-directed organelle transport along microtubule [GO:0072385]; neutrophil degranulation [GO:0043312]; peptidyl-cysteine methylation [GO:0018125]; protein localization to Golgi apparatus [GO:0034067]; Rab protein signal transduction [GO:0032482]; retrograde transport, endosome to Golgi [GO:0042147]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Rab-6a; IsoId=P20340-1; Sequence=Displayed; Name=2; Synonyms=Rab-6a', Rab-6C, Rab6C; IsoId=P20340-2; Sequence=VSP_005527; Name=3; IsoId=P20340-3; Sequence=VSP_045302; Name=4; IsoId=P20340-4; Sequence=VSP_046967, VSP_005527; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:23091056, ECO:0000269|PubMed:25962623}; Lipid-anchor {ECO:0000269|PubMed:25962623}. Note=BICD2 facilitates its targeting to Golgi apparatus membrane. {ECO:0000269|PubMed:25962623}.; SUBCELLULAR LOCATION: Isoform 1: Golgi apparatus membrane {ECO:0000269|PubMed:11071909}; Lipid-anchor {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Golgi apparatus membrane {ECO:0000269|PubMed:11071909}; Lipid-anchor {ECO:0000305}.


uniprotID: Q13637
geneSymbol: RAB32
reactome: R-HSA-8873719;R-HSA-8876198;
pdb: 4CYM;4CZ2;5OEC;5OED;
name: Ras-related protein Rab-32
length: 225
go: ENSG00000118508;
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; melanosome [GO:0042470]; melanosome membrane [GO:0033162]; membrane [GO:0016020]; Mitochondria-associated ER Membrane [GO:0044233]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; phagocytic vesicle [GO:0045335]; phagocytic vesicle membrane [GO:0030670]; trans-Golgi network [GO:0005802]; AP-1 adaptor complex binding [GO:0035650]; AP-3 adaptor complex binding [GO:0035651]; BLOC-2 complex binding [GO:0036461]; GTP binding [GO:0005525]; GTP-dependent protein binding [GO:0030742]; GTPase activity [GO:0003924]; antigen processing and presentation [GO:0019882]; endosome to melanosome transport [GO:0035646]; intracellular protein transport [GO:0006886]; melanosome assembly [GO:1903232]; mitochondrion organization [GO:0007005]; phagosome maturation [GO:0090382]; protein localization to membrane [GO:0072657]; Rab protein signal transduction [GO:0032482]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12186851}. Mitochondrion outer membrane {ECO:0000269|PubMed:23084991, ECO:0000305|PubMed:12186851}; Lipid-anchor {ECO:0000305|PubMed:12186851}. Cytoplasmic vesicle, phagosome {ECO:0000269|PubMed:21255211}. Cytoplasmic vesicle, phagosome membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Melanosome {ECO:0000250|UniProtKB:Q9CZE3}. Melanosome membrane {ECO:0000269|PubMed:23084991}. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). The BLOC-3 complex, a heterodimer of HPS1 and HPS4 promotes its membrane localization (PubMed:23084991). {ECO:0000269|PubMed:21255211, ECO:0000269|PubMed:23084991}.


uniprotID: Q13702
geneSymbol: RAPSN
length: 412
go: ENSG00000165917;
name:
43 kDa receptor-associated protein of the synapse (RAPsyn) (43 kDa postsynaptic protein) (Acetylcholine receptor-associated 43 kDa protein) (RING finger protein 205)

sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; postsynaptic specialization membrane [GO:0099634]; acetylcholine receptor binding [GO:0033130]; ionotropic glutamate receptor binding [GO:0035255]; metal ion binding [GO:0046872]; protein membrane anchor [GO:0043495]; chemical synaptic transmission [GO:0007268]; establishment of protein localization to postsynaptic membrane [GO:1903540]; positive regulation of neuromuscular synaptic transmission [GO:1900075]; positive regulation of neuron apoptotic process [GO:0043525]; regulation of postsynaptic membrane organization [GO:1901626]; synaptic transmission, cholinergic [GO:0007271]

snps:
rs11556408 rs104894300 rs121909254 rs57878668 rs104894299 rs121909256 rs121909255 rs104894294 rs121909257 rs104894293 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13702-1; Sequence=Displayed; Name=2; IsoId=Q13702-2; Sequence=VSP_005533; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of postsynaptic membranes.


uniprotID: P51157
geneSymbol: RAB28
pdb: 2HXS;3E5H;
name: Ras-related protein Rab-28
length: 221
go: ENSG00000157869;
sequence:

opentargets:
ciliary basal body [GO:0036064]; ciliary rootlet [GO:0035253]; cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; intracellular protein transport [GO:0006886]; Rab protein signal transduction [GO:0032482]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=S; Synonyms=Rab28S; IsoId=P51157-1; Sequence=Displayed; Name=L; Synonyms=Rab28L; IsoId=P51157-2; Sequence=VSP_005530; Name=3; IsoId=P51157-3; Sequence=VSP_045807; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body. Note=Expressed in the basal body and ciliary rootlet of the photoreceptors. {ECO:0000250}.


uniprotID: O95716
geneSymbol: RAB3D
reactome: R-HSA-6798695;R-HSA-8873719;
pdb: 2GF9;
name: Ras-related protein Rab-3D
length: 219
go: ENSG00000105514;
snps: rs3969860
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; cytoplasmic microtubule [GO:0005881]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; secretory vesicle [GO:0099503]; synaptic vesicle [GO:0008021]; vesicle [GO:0031982]; zymogen granule [GO:0042588]; GTP binding [GO:0005525]; GTP-dependent protein binding [GO:0030742]; GTPase activity [GO:0003924]; myosin V binding [GO:0031489]; bone resorption [GO:0045453]; intracellular protein transport [GO:0006886]; neutrophil degranulation [GO:0043312]; peptidyl-cysteine methylation [GO:0018125]; positive regulation of regulated secretory pathway [GO:1903307]; protein localization to plasma membrane [GO:0072659]; protein secretion [GO:0009306]; Rab protein signal transduction [GO:0032482]; regulation of exocytosis [GO:0017157]; vesicle docking involved in exocytosis [GO:0006904]


uniprotID: O43374
geneSymbol: RASA4
reactome: R-HSA-5658442;R-HSA-6802949;
length: 803
go: ENSG00000105808;
snps: rs144395384 rs886346
name:
Ras GTPase-activating protein 4 (Calcium-promoted Ras inactivator) (Ras p21 protein activator 4) (RasGAP-activating-like protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; phospholipid binding [GO:0005543]; cellular response to calcium ion [GO:0071277]; MAPK cascade [GO:0000165]; negative regulation of GTPase activity [GO:0034260]; negative regulation of Ras protein signal transduction [GO:0046580]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43374-1; Sequence=Displayed; Name=2; IsoId=O43374-2; Sequence=VSP_039965; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11448776}. Cell membrane {ECO:0000269|PubMed:11448776}; Peripheral membrane protein {ECO:0000269|PubMed:11448776}. Note=Localized to the cytosol as a result of its lack of phosphoinositide binding activity. Upon agonist-stimulated calcium mobilization, utilizes the C2A and C2B domains to associate with the plasma membrane.


uniprotID: Q8WUD1
geneSymbol: RAB2B
reactome: R-HSA-8873719;
pdb: 2A5J;
name: Ras-related protein Rab-2B
length: 216
go: ENSG00000129472;
snps: rs17106411
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; intracellular protein transport [GO:0006886]; positive regulation of exocytosis [GO:0045921]; Rab protein signal transduction [GO:0032482]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUD1-1; Sequence=Displayed; Name=2; IsoId=Q8WUD1-2; Sequence=VSP_055829; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000305}. Golgi apparatus membrane {ECO:0000305}.


uniprotID: P22695
geneSymbol: UQCRC2
reactome: R-HSA-611105;
pdb: 5XTE;5XTH;5XTI;
length: 453
go: ENSG00000140740;
drug: DB08453;DB07778;DB07401;DB08330;DB08690;
snps: rs2228473 rs4850 rs374661051 rs11863893
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
name:
Cytochrome b-c1 complex subunit 2, mitochondrial (Complex III subunit 2) (Core protein II) (Ubiquinol-cytochrome-c reductase complex core protein 2)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex III [GO:0005750]; mitochondrial respiratory chain complex IV [GO:0005751]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; protein-containing complex binding [GO:0044877]; aerobic respiration [GO:0009060]; oxidative phosphorylation [GO:0006119]; protein processing involved in protein targeting to mitochondrion [GO:0006627]


uniprotID: P50749
geneSymbol: RASSF2
name: Ras association domain-containing protein 2
length: 326
go: ENSG00000101265;
snps: rs758816530
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; kinetochore [GO:0000776]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; protein kinase activity [GO:0004672]; bone remodeling [GO:0046849]; cell cycle [GO:0007049]; epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade [GO:0038168]; homeostasis of number of cells [GO:0048872]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; ossification [GO:0001503]; positive regulation of apoptotic process [GO:0043065]; positive regulation of JNK cascade [GO:0046330]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of protein kinase activity [GO:0045860]; protein stabilization [GO:0050821]; regulation of osteoblast differentiation [GO:0045667]; regulation of osteoclast differentiation [GO:0045670]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50749-1; Sequence=Displayed; Name=2; IsoId=P50749-2; Sequence=VSP_055851, VSP_055852; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}. Note=Translocates to the cytoplasm in the presence of STK3/MST2 AND STK4/MST1.


uniprotID: P62820
geneSymbol: RAB1A
reactome: R-HSA-162658;R-HSA-204005;R-HSA-6807878;R-HSA-6811434;R-HSA-8873719;R-HSA-8876198;
pdb: 2FOL;2WWX;3L0I;3SFV;3TKL;4FMB;4FMC;4FMD;4FME;4IRU;4JVS;
name: Ras-related protein Rab-1A (YPT1-related protein)
length: 205
go: ENSG00000138069;
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; melanosome [GO:0042470]; transport vesicle membrane [GO:0030658]; cadherin binding [GO:0045296]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; autophagosome assembly [GO:0000045]; autophagy [GO:0006914]; cargo loading into COPII-coated vesicle [GO:0090110]; cell migration [GO:0016477]; COPII vesicle coating [GO:0048208]; defense response to bacterium [GO:0042742]; endocytosis [GO:0006897]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; growth hormone secretion [GO:0030252]; interleukin-8 secretion [GO:0072606]; intracellular protein transport [GO:0006886]; melanosome transport [GO:0032402]; positive regulation of glycoprotein metabolic process [GO:1903020]; positive regulation of ubiquitin protein ligase activity [GO:1904668]; post-translational protein modification [GO:0043687]; Rab protein signal transduction [GO:0032482]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; substrate adhesion-dependent cell spreading [GO:0034446]; vesicle transport along microtubule [GO:0047496]; vesicle-mediated transport [GO:0016192]; virion assembly [GO:0019068]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P62820-1, P11476-1; Sequence=Displayed; Name=2; IsoId=P62820-2, P11476-2; Sequence=VSP_005525; Note=No experimental confirmation available.; Name=3; IsoId=P62820-3, P11476-3; Sequence=VSP_005526; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:22939626}. Endoplasmic reticulum {ECO:0000269|PubMed:22939626}. Early endosome {ECO:0000269|PubMed:21303926}. Cytoplasm, cytosol {ECO:0000303|PubMed:19942850}. Membrane {ECO:0000269|PubMed:19942850, ECO:0000269|PubMed:23815289}. Melanosome {ECO:0000250|UniProtKB:P62821}. Note=Alternates between membrane-associated and cytosolic forms. {ECO:0000303|PubMed:19942850}.


uniprotID: P61574
geneSymbol: HERVK_113
length: 105
name:
Endogenous retrovirus group K member 113 Rec protein (HERV-K113 Rec protein) (HERV-K_19p13.11 provirus Rec protein)

sequence:
MNPSEMQRKAPPRRRRHRNRAPLTHKMNKMVTSEEQMKLPSTKKAEPPTWAQLKKLTQLATKYLENTKVTQTPESMLLAALMIVSMVSYGVPNSSEETATIENGP

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; RNA binding [GO:0003723]; mRNA transport [GO:0051028]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. Note=Shuttles between the nucleus and the cytoplasm. When in the nucleus, resides in the nucleolus (By similarity). {ECO:0000250}.


uniprotID: Q7Z4M0
geneSymbol: REC114
name: Meiotic recombination protein REC114
length: 266
go: ENSG00000183324;
opentargets: DNA recombination [GO:0006310]; meiotic cell cycle [GO:0051321]
snps: rs12102004
sequence:


uniprotID: Q2KHR2
geneSymbol: RFX7
pdb: 4QQI;4QQM;
name: DNA-binding protein RFX7 (Regulatory factor X 7) (Regulatory factor X domain-containing protein 2)
length: 1363
go: ENSG00000181827;
snps: rs16976751 rs3803460 rs33984059
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00858}.
sequence:

opentargets:
nucleus [GO:0005634]; 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]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2KHR2-1; Sequence=Displayed; Name=2; IsoId=Q2KHR2-2; Sequence=VSP_034394; 


uniprotID: A6NFN3
geneSymbol: RBFOX3
name: RNA binding protein fox-1 homolog 3 (Fox-1 homolog C) (Neuronal nuclei antigen) (NeuN antigen)
length: 312
go: ENSG00000167281;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; perikaryon [GO:0043204]; DNA binding [GO:0003677]; mRNA binding [GO:0003729]; mRNA processing [GO:0006397]; nervous system development [GO:0007399]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NFN3-1; Sequence=Displayed; Name=2; IsoId=A6NFN3-2; Sequence=VSP_056241; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24215932}. Cytoplasm {ECO:0000269|PubMed:24215932}. Note=Largely restricted to neuronal nuclei. However, significant cytoplasmic localization in neurons from brains from HIV-infected individuals with cognitive impairment. {ECO:0000269|PubMed:24215932}.


uniprotID: P22670
geneSymbol: RFX1
pdb: 1DP7;
length: 979
go: ENSG00000132005;
snps: rs2305780
location: SUBCELLULAR LOCATION: Nucleus.
name:
MHC class II regulatory factor RFX1 (Enhancer factor C) (EF-C) (Regulatory factor X 1) (RFX) (Transcription factor RFX1)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 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]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; immune response [GO:0006955]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q7L804
geneSymbol: RAB11FIP2
reactome: R-HSA-432040;
pdb: 2GZD;2GZH;2K6S;3TSO;4C4P;
name: Rab11 family-interacting protein 2 (Rab11-FIP2) (NRip11)
length: 512
go: ENSG00000107560;
snps: rs34028100
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; endosome [GO:0005768]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; Rab GTPase binding [GO:0017137]; establishment of cell polarity [GO:0030010]; insulin secretion involved in cellular response to glucose stimulus [GO:0035773]; positive regulation of protein localization to plasma membrane [GO:1903078]; regulated exocytosis [GO:0045055]; renal water homeostasis [GO:0003091]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L804-1; Sequence=Displayed; Name=2; IsoId=Q7L804-2; Sequence=VSP_056649; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Recycling endosome membrane; Peripheral membrane protein. Note=Translocates with RAB11A from the vesicles of the endocytic recycling compartment (ERC) to the plasma membrane.


uniprotID: Q96AA3
geneSymbol: RFT1
reactome: R-HSA-446193;R-HSA-4570571;
name: Protein RFT1 homolog
length: 541
go: ENSG00000163933;
snps: rs118203913 rs763862849 rs35221142 rs796053521
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]; lipid transporter activity [GO:0005319]; carbohydrate transport [GO:0008643]; glycolipid translocation [GO:0034203]


uniprotID: P0DJD1
geneSymbol: RGPD2
length: 1756
go: ENSG00000185304;
name:
RANBP2-like and GRIP domain-containing protein 2 (Ran-binding protein 2-like 2) (RanBP2-like 2) (RanBP2L2)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nuclear pore [GO:0005643]; nucleus [GO:0005634]; Ran GTPase binding [GO:0008536]; NLS-bearing protein import into nucleus [GO:0006607]; positive regulation of GTPase activity [GO:0043547]


uniprotID: Q7Z3J3
geneSymbol: RGPD4
name: RanBP2-like and GRIP domain-containing protein 4
length: 1758
go: ENSG00000196862;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z3J3-1; Sequence=Displayed; Name=2; IsoId=Q7Z3J3-2; Sequence=VSP_030214, VSP_030215; 


uniprotID: Q5JS13
geneSymbol: RALGPS1
pdb: 3QXL;
length: 557
go: ENSG00000136828;
snps: rs55918931
name:
Ras-specific guanine nucleotide-releasing factor RalGPS1 (Ral GEF with PH domain and SH3-binding motif 1) (Ral guanine nucleotide exchange factor 2) (RalGEF 2) (RalA exchange factor RalGPS1)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; guanyl-nucleotide exchange factor activity [GO:0005085]; Ral guanyl-nucleotide exchange factor activity [GO:0008321]; intracellular signal transduction [GO:0035556]; regulation of Ral protein signal transduction [GO:0032485]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=RALGPS1B; IsoId=Q5JS13-1; Sequence=Displayed; Name=2; Synonyms=RALGPS1A; IsoId=Q5JS13-2; Sequence=VSP_033478, VSP_033480, VSP_033481; Note=No experimental confirmation available.; Name=3; IsoId=Q5JS13-3; Sequence=VSP_033475, VSP_033479; Note=No experimental confirmation available.; Name=4; IsoId=Q5JS13-4; Sequence=VSP_033476, VSP_033477; Note=No experimental confirmation available.; Name=5; IsoId=Q5JS13-5; Sequence=VSP_033473, VSP_033474; Note=Gene prediction based on EST data. No experimental confirmation available.; Name=6; IsoId=Q5JS13-6; Sequence=VSP_033471, VSP_033472; Note=No experimental confirmation available.; Name=7; IsoId=Q5JS13-7; Sequence=VSP_033478, VSP_033481; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10889189}. Cell membrane {ECO:0000269|PubMed:10889189}. Note=Associates with membranes through the PH domain.


uniprotID: Q6ZVN8
geneSymbol: HJV
reactome: R-HSA-373752;
pdb: 4UI1;
length: 426
go: ENSG00000168509;
name:
Hemojuvelin (Hemochromatosis type 2 protein) (Hemojuvelin BMP coreceptor) (RGM domain family member C)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; BMP receptor complex [GO:0070724]; cell surface [GO:0009986]; extracellular space [GO:0005615]; HFE-transferrin receptor complex [GO:1990712]; plasma membrane [GO:0005886]; plasma membrane protein complex [GO:0098797]; BMP binding [GO:0036122]; coreceptor activity [GO:0015026]; signaling receptor binding [GO:0005102]; transferrin receptor binding [GO:1990459]; activin receptor signaling pathway [GO:0032924]; BMP signaling pathway [GO:0030509]; cellular iron ion homeostasis [GO:0006879]; cellular response to BMP stimulus [GO:0071773]; iron ion homeostasis [GO:0055072]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein autoprocessing [GO:0016540]

snps:
rs28940586 rs74315327 rs782125244 rs782708481 rs74315325 rs863224819 rs7540883 rs74315323 rs121434374 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=a; IsoId=Q6ZVN8-1; Sequence=Displayed; Name=b; IsoId=Q6ZVN8-2; Sequence=VSP_011319; Name=c; IsoId=Q6ZVN8-3; Sequence=VSP_011320; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}. Note=Also released in the extracellular space. {ECO:0000269|PubMed:25156943}.


uniprotID: Q14CB8
geneSymbol: ARHGAP19
reactome: R-HSA-194840;
name: Rho GTPase-activating protein 19 (Rho-type GTPase-activating protein 19)
length: 494
go: ENSG00000213390;ENSG00000269891;
snps: rs17112598
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17454002}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q14CB8-1; Sequence=Displayed; Name=2; IsoId=Q14CB8-2; Sequence=VSP_023701; Note=No experimental confirmation available.; Name=3; IsoId=Q14CB8-3; Sequence=VSP_023696; Note=No experimental confirmation available.; Name=4; IsoId=Q14CB8-4; Sequence=VSP_023695; Note=No experimental confirmation available.; Name=5; IsoId=Q14CB8-5; Sequence=VSP_023698, VSP_023699; Note=No experimental confirmation available.; Name=6; IsoId=Q14CB8-6; Sequence=VSP_023697; Note=No experimental confirmation available.; Name=7; IsoId=Q14CB8-7; Sequence=VSP_023700; 


uniprotID: P49795
geneSymbol: RGS19
reactome: R-HSA-416476;R-HSA-418594;R-HSA-418597;
pdb: 1CMZ;
name: Regulator of G-protein signaling 19 (RGS19) (G-alpha-interacting protein) (GAIP)
length: 217
go: ENSG00000171700;
location: SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
sequence:

opentargets:
brush border [GO:0005903]; clathrin-coated vesicle [GO:0030136]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; membrane raft [GO:0045121]; G-protein alpha-subunit binding [GO:0001965]; autophagy [GO:0006914]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of signal transduction [GO:0009968]; response to ethanol [GO:0045471]; small GTPase mediated signal transduction [GO:0007264]


uniprotID: P0C7M4
geneSymbol: RHOXF2B
name: Rhox homeobox family member 2B
length: 288
go: ENSG00000203989;
snps: rs781837897 rs3764830 rs782251394
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]; positive regulation of gene expression [GO:0010628]


uniprotID: Q9UBD6
geneSymbol: RHCG
reactome: R-HSA-444411;
pdb: 3HD6;
length: 479
go: ENSG00000140519;
drug: DB09326;
snps: rs17807723
name:
Ammonium transporter Rh type C (Rh glycoprotein kidney) (Rhesus blood group family type C glycoprotein) (Rh family type C glycoprotein) (Rh type C glycoprotein) (Tumor-related protein DRC2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cytoplasmic vesicle [GO:0031410]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; ammonium transmembrane transporter activity [GO:0008519]; ankyrin binding [GO:0030506]; identical protein binding [GO:0042802]; amine transport [GO:0015837]; ammonium transmembrane transport [GO:0072488]; ammonium transport [GO:0015696]; cellular ion homeostasis [GO:0006873]; epithelial cell differentiation [GO:0030855]; homeostatic process [GO:0042592]; regulation of pH [GO:0006885]; transepithelial ammonium transport [GO:0070634]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:10852913, ECO:0000269|PubMed:12204676}; Multi-pass membrane protein {ECO:0000269|PubMed:10852913, ECO:0000269|PubMed:12204676}. Note=Also detected at the basolateral membrane and in subapical vesicles. {ECO:0000250}.


uniprotID: P98171
geneSymbol: ARHGAP4
reactome: R-HSA-194840;
pdb: 2EPD;
length: 946
go: ENSG00000089820;
snps: rs5987182
location: SUBCELLULAR LOCATION: Cytoplasm. Note=Just below the plasma membrane.
name:
Rho GTPase-activating protein 4 (Rho-GAP hematopoietic protein C1) (Rho-type GTPase-activating protein 4) (p115)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; microtubule [GO:0005874]; GTPase activator activity [GO:0005096]; identical protein binding [GO:0042802]; Rac GTPase binding [GO:0048365]; SH3/SH2 adaptor activity [GO:0005070]; cytoskeleton organization [GO:0007010]; negative regulation of axon extension [GO:0030517]; negative regulation of cell migration [GO:0030336]; negative regulation of fibroblast migration [GO:0010764]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P98171-1; Sequence=Displayed; Name=2; IsoId=P98171-2; Sequence=VSP_042902; Note=No experimental confirmation available.; 


uniprotID: Q9BQY4
geneSymbol: RHOXF2
name: Rhox homeobox family member 2 (Paired-like homeobox protein PEPP-2) (Testis homeobox gene 1)
length: 288
go: ENSG00000131721;
snps: rs148604152 rs199871532 rs1210761967 rs6646602
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]; identical protein binding [GO:0042802]; sequence-specific DNA binding [GO:0043565]; positive regulation of gene expression [GO:0010628]


uniprotID: Q4ADV7
geneSymbol: RIC1
reactome: R-HSA-6811438;R-HSA-6811440;R-HSA-8876198;
length: 1423
go: ENSG00000107036;
name:
RAB6A-GEF complex partner protein 1 (Connexin-43-interacting protein of 150 kDa) (Protein RIC1 homolog)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; protein-containing complex [GO:0032991]; RIC1-RGP1 guanyl-nucleotide exchange factor complex [GO:0034066]; trans-Golgi network membrane [GO:0032588]; Rab GTPase binding [GO:0017137]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; intracellular protein transport [GO:0006886]; negative regulation of cellular protein catabolic process [GO:1903363]; positive regulation of GTPase activity [GO:0043547]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q4ADV7-1; Sequence=Displayed; Name=2; IsoId=Q4ADV7-2; Sequence=VSP_031706, VSP_031707; Note=No experimental confirmation available.; Name=3; IsoId=Q4ADV7-3; Sequence=VSP_042408; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23091056}. Membrane {ECO:0000269|PubMed:23091056}; Single-pass membrane protein {ECO:0000255}.


uniprotID: P52758
geneSymbol: RIDA
reactome: R-HSA-8849175;
pdb: 1ONI;
length: 137
go: ENSG00000132541;
drug: DB03793;
name:
2-iminobutanoate/2-iminopropanoate deaminase (EC 3.5.99.10) (14.5 kDa translational inhibitor protein) (hp14.5) (p14.5) (Heat-responsive protein 12) (Reactive intermediate imine deaminase A homolog) (Translation inhibitor L-PSP ribonuclease) (EC 3.1.-.-) (UK114 antigen homolog)

sequence:
MSSLIRRVISTAKAPGAIGPYSQAVLVDRTIYISGQIGMDPSSGQLVSGGVAEEAKQALKNMGEILKAAGCDFTNVVKTTVLLADINDFNTVNEIYKQYFKSNFPARAAYQVAALPKGSRIEIEAVAIQGPLTTASL

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; nucleus [GO:0005634]; peroxisome [GO:0005777]; deaminase activity [GO:0019239]; endoribonuclease activity, producing 3'-phosphomonoesters [GO:0016892]; long-chain fatty acid binding [GO:0036041]; platinum binding [GO:1904012]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; transition metal ion binding [GO:0046914]; xenon atom binding [GO:1904013]; brain development [GO:0007420]; G1 to G0 transition [GO:0070314]; kidney development [GO:0001822]; L-threonine catabolic process to glycine [GO:0019518]; lung development [GO:0030324]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of translation [GO:0017148]; organonitrogen compound catabolic process [GO:1901565]; response to lipid [GO:0033993]; response to salt [GO:1902074]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8973653}. Nucleus {ECO:0000269|PubMed:8973653}. Peroxisome {ECO:0000250|UniProtKB:P52759}. Mitochondrion {ECO:0000250|UniProtKB:P52759}. Note=Mostly cytoplasmic but, in less differentiated cells occasionally nuclear. {ECO:0000269|PubMed:8973653}.


uniprotID: Q8IXN7
geneSymbol: RIMKLA
reactome: R-HSA-70614;
length: 391
go: ENSG00000177181;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
N-acetylaspartylglutamate synthase A (NAAG synthetase A) (NAAGS) (EC 6.3.2.41) (N-acetylaspartylglutamylglutamate synthase A) (EC 6.3.2.42) (Ribosomal protein S6 modification-like protein A)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; N-acetyl-L-aspartate-L-glutamate ligase activity [GO:0072590]; cellular amino acid biosynthetic process [GO:0008652]; cellular protein modification process [GO:0006464]


uniprotID: Q9UFD9
geneSymbol: RIMBP3
pdb: 2EGE;
name: RIMS-binding protein 3A (RIM-BP3.A) (RIMS-binding protein 3.1) (RIM-BP3.1)
length: 1639
go: ENSG00000275793;
snps: rs374395444
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; nucleus [GO:0005634]; benzodiazepine receptor binding [GO:0030156]; fertilization [GO:0009566]; spermatid development [GO:0007286]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q3V0F0}. Note=In elongating spermatids, localizes to the manchette. {ECO:0000250|UniProtKB:Q3V0F0}.


uniprotID: O15034
geneSymbol: RIMBP2
pdb: 1WIE;2CSI;2CSP;2CSQ;
name: RIMS-binding protein 2 (RIM-BP2)
length: 1052
go: ENSG00000060709;
snps: rs2292664 rs11060869
sequence:

opentargets:
cell junction [GO:0030054]; plasma membrane [GO:0005886]; synapse [GO:0045202]; negative regulation of phosphatase activity [GO:0010923]; neuromuscular synaptic transmission [GO:0007274]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15034-1; Sequence=Displayed; Name=2; IsoId=O15034-2; Sequence=VSP_009212, VSP_009214, VSP_009215; Name=3; IsoId=O15034-3; Sequence=VSP_009213, VSP_009216; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Synaptic plasma membrane. {ECO:0000250}.


uniprotID: Q96QF0
geneSymbol: RAB3IP
reactome: R-HSA-5620912;R-HSA-5620916;R-HSA-5620922;R-HSA-8876198;
pdb: 4LHX;4LHY;4LHZ;4UJ3;4UJ4;4UJ5;6F6P;
name: Rab-3A-interacting protein (Rab3A-interacting protein) (Rabin-3) (SSX2-interacting protein)
length: 476
go: ENSG00000127328;
sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; Golgi to plasma membrane transport [GO:0006893]; protein localization to organelle [GO:0033365]; protein targeting to membrane [GO:0006612]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=2 {ECO:0000269|PubMed:12007189}; Synonyms=alpha2 {ECO:0000303|PubMed:12007189}; IsoId=Q96QF0-1; Sequence=Displayed; Name=1 {ECO:0000269|PubMed:12007189}; Synonyms=alpha1 {ECO:0000303|PubMed:12007189}; IsoId=Q96QF0-2; Sequence=VSP_051755; Name=3 {ECO:0000269|PubMed:12007189}; Synonyms=beta1 {ECO:0000303|PubMed:12007189}; IsoId=Q96QF0-3; Sequence=VSP_051755, VSP_051761, VSP_051762; Name=4 {ECO:0000269|PubMed:12007189}; Synonyms=beta2 {ECO:0000303|PubMed:12007189}; IsoId=Q96QF0-4; Sequence=VSP_051761, VSP_051762; Name=5 {ECO:0000269|PubMed:12007189}; Synonyms=gamma1 {ECO:0000303|PubMed:12007189}; IsoId=Q96QF0-5; Sequence=VSP_051755, VSP_051757, VSP_051759; Name=6 {ECO:0000269|PubMed:12007189}; Synonyms=gamma2 {ECO:0000303|PubMed:12007189}; IsoId=Q96QF0-6; Sequence=VSP_051757, VSP_051759; Name=7 {ECO:0000305}; IsoId=Q96QF0-7; Sequence=VSP_051755, VSP_051758, VSP_051760; Note=No experimental confirmation available. {ECO:0000305}; Name=8 {ECO:0000305}; IsoId=Q96QF0-8; Sequence=VSP_051756; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Note=Predominantly cytoplasmic but a small proportion colocalizes with SSX2 in the nucleus. Activation of protein kinase C results in redistribution to the periphery of lamellipodia. In the cytoskeleton, localizes to cortical actin.


uniprotID: Q5T481
geneSymbol: RBM20
name: RNA-binding protein 20 (RNA-binding motif protein 20)
length: 1227
snps: rs7908490 rs183007628 rs1417635
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00130}.
sequence:

opentargets:
nucleus [GO:0005634]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; heart development [GO:0007507]; mRNA processing [GO:0006397]; positive regulation of RNA splicing [GO:0033120]; RNA splicing [GO:0008380]


uniprotID: Q5RL73
geneSymbol: RBM48
name: RNA-binding protein 48
length: 367
go: ENSG00000127993;
opentargets: nucleoplasm [GO:0005654]; RNA binding [GO:0003723]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5RL73-1; Sequence=Displayed; Name=2; IsoId=Q5RL73-2; Sequence=VSP_056683; Note=No experimental confirmation available.; 


uniprotID: P61225
geneSymbol: RAP2B
reactome: R-HSA-6798695;
pdb: 1N4P;1N4Q;1N4R;
name: Ras-related protein Rap-2b
length: 183
go: ENSG00000181467;
sequence:
MREYKVVVLGSGGVGKSALTVQFVTGSFIEKYDPTIEDFYRKEIEVDSSPSVLEILDTAGTEQFASMRDLYIKNGQGFILVYSLVNQQSFQDIKPMRDQIIRVKRYERVPMILVGNKVDLEGEREVSYGEGKALAEEWSCPFMETSAKNKASVDELFAEIVRQMNYAAQPNGDEGCCSACVIL

opentargets:
bicellular tight junction [GO:0005923]; cell-cell contact zone [GO:0044291]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein domain specific binding [GO:0019904]; negative regulation of cell migration [GO:0030336]; neutrophil degranulation [GO:0043312]; platelet activation [GO:0030168]; platelet aggregation [GO:0070527]; positive regulation of protein autophosphorylation [GO:0031954]; Rap protein signal transduction [GO:0032486]; regulation of protein tyrosine kinase activity [GO:0061097]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Recycling endosome membrane {ECO:0000269|PubMed:16540189}; Lipid-anchor {ECO:0000269|PubMed:16540189}; Cytoplasmic side {ECO:0000269|PubMed:16540189}. Note=Associated with red blood cells-released vesicles.


uniprotID: Q12829
geneSymbol: RAB40B
reactome: R-HSA-8873719;
name: Ras-related protein Rab-40B (SOCS box-containing protein RAR) (Protein Rar)
length: 278
go: ENSG00000141542;
sequence:

opentargets:
Golgi membrane [GO:0000139]; nuclear envelope [GO:0005635]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; intracellular protein transport [GO:0006886]; multi-organism toxin transport [GO:1990967]; protein ubiquitination [GO:0016567]; Rab protein signal transduction [GO:0032482]


uniprotID: P61573
geneSymbol: ERVK-9
length: 105
name:
Endogenous retrovirus group K member 9 Rec protein (HERV-K(C6) Rec protein) (HERV-K109 Rec protein) (HERV-K_6q14.1 provirus Rec protein)

sequence:
MNPSEMQRKAPPRRRRHRNRAPLTHKMNKMVTSEEQMKLPSTKKAEPPTWAQLKKLTQLATKYLENTKVTQTPESMLLAALMIVSMVSAGVPNSSEETATIENGP


uniprotID: Q6ZV50
geneSymbol: RFX8
name: DNA-binding protein RFX8 (Regulatory factor X 8)
length: 586
go: ENSG00000196460;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00858}.
sequence:

opentargets:
nucleus [GO:0005634]; 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]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZV50-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6ZV50-2; Sequence=VSP_039427, VSP_039428, VSP_039430, VSP_039431; 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=Q6ZV50-3; Sequence=VSP_039427, VSP_039429; 


uniprotID: Q8WZ73
geneSymbol: RFFL
reactome: R-HSA-6804757;
pdb: 1Y02;
length: 363
go: ENSG00000092871;
name:
E3 ubiquitin-protein ligase rififylin (EC 2.3.2.27) (Caspase regulator CARP2) (Caspases-8 and -10-associated RING finger protein 2) (CARP-2) (FYVE-RING finger protein Sakura) (Fring) (RING finger and FYVE-like domain-containing protein 1) (RING finger protein 189) (RING finger protein 34-like) (RING-type E3 ubiquitin transferase rififylin)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; metal ion binding [GO:0046872]; p53 binding [GO:0002039]; protease binding [GO:0002020]; protein kinase binding [GO:0019901]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; apoptotic process [GO:0006915]; negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis [GO:2001271]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of signal transduction by p53 class mediator [GO:1901797]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein K48-linked ubiquitination [GO:0070936]; regulation of fibroblast migration [GO:0010762]; regulation of TOR signaling [GO:0032006]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WZ73-1; Sequence=Displayed; Name=2; IsoId=Q8WZ73-2; Sequence=VSP_015752; Name=3; IsoId=Q8WZ73-3; Sequence=VSP_015751, VSP_015752; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Recycling endosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=The FYVE-type zinc finger may mediate phosphatidylinositol phosphate-binding and control subcellular localization.


uniprotID: O15211
geneSymbol: RGL2
length: 777
go: ENSG00000237441;
snps: rs34022110 rs35273540
name:
Ral guanine nucleotide dissociation stimulator-like 2 (RalGDS-like 2) (RalGDS-like factor) (Ras-associated protein RAB2L)

sequence:

opentargets:
intracellular [GO:0005622]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; Ras protein signal transduction [GO:0007265]; regulation of Ral protein signal transduction [GO:0032485]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15211-1; Sequence=Displayed; Name=2; IsoId=O15211-2; Sequence=VSP_055847, VSP_055848, VSP_055849; Note=No experimental confirmation available.; 


uniprotID: Q8N5W9
geneSymbol: RFLNB
name: Refilin-B (Regulator of filamin protein B) (RefilinB)
length: 214
sequence:

opentargets:
actin filament bundle [GO:0032432]; cytoplasm [GO:0005737]; filamin binding [GO:0031005]; actin filament bundle organization [GO:0061572]; epithelial to mesenchymal transition [GO:0001837]; negative regulation of bone mineralization involved in bone maturation [GO:1900158]; negative regulation of chondrocyte development [GO:0061182]; skeletal system morphogenesis [GO:0048705]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q5SVD0}. Note=Colocalizes with FLNA along actin bundle-like structures. {ECO:0000250|UniProtKB:Q5SVD0}.


uniprotID: Q15493
geneSymbol: RGN
pdb: 3G4E;3G4H;4GNB;4GNC;
name: Regucalcin (RC) (Gluconolactonase) (GNL) (EC 3.1.1.17) (Senescence marker protein 30) (SMP-30)
length: 299
go: ENSG00000130988;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; enzyme regulator activity [GO:0030234]; gluconolactonase activity [GO:0004341]; zinc ion binding [GO:0008270]; aging [GO:0007568]; cellular calcium ion homeostasis [GO:0006874]; kidney development [GO:0001822]; L-ascorbic acid biosynthetic process [GO:0019853]; liver regeneration [GO:0097421]; negative regulation of apoptotic process [GO:0043066]; negative regulation of bone development [GO:1903011]; negative regulation of calcium-dependent ATPase activity [GO:1903611]; negative regulation of cyclic-nucleotide phosphodiesterase activity [GO:0051344]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of DNA catabolic process [GO:1903625]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of flagellated sperm motility [GO:1901318]; negative regulation of GTPase activity [GO:0034260]; negative regulation of leucine-tRNA ligase activity [GO:1903634]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of RNA biosynthetic process [GO:1902679]; positive regulation of ATPase activity [GO:0032781]; positive regulation of calcium-transporting ATPase activity [GO:1901896]; positive regulation of dUTP diphosphatase activity [GO:1903629]; positive regulation of fatty acid biosynthetic process [GO:0045723]; positive regulation of glucose metabolic process [GO:0010907]; positive regulation of GTPase activity [GO:0043547]; positive regulation of phosphatase activity [GO:0010922]; positive regulation of proteolysis involved in cellular protein catabolic process [GO:1903052]; positive regulation of superoxide dismutase activity [GO:1901671]; positive regulation of triglyceride biosynthetic process [GO:0010867]; regulation of calcium-mediated signaling [GO:0050848]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15493-1; Sequence=Displayed; Name=2; IsoId=Q15493-2; Sequence=VSP_025456, VSP_025457; Note=No experimental confirmation available.; 


uniprotID: Q5T5U3
geneSymbol: ARHGAP21
reactome: R-HSA-194840;
pdb: 2DHJ;2J59;2YUY;
length: 1957
snps: rs3748222 rs1133897 rs1143051 rs1143057 rs1143075 rs1127893
name:
Rho GTPase-activating protein 21 (Rho GTPase-activating protein 10) (Rho-type GTPase-activating protein 21)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell junction [GO:0030054]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; establishment of Golgi localization [GO:0051683]; Golgi organization [GO:0007030]; maintenance of Golgi location [GO:0051684]; organelle transport along microtubule [GO:0072384]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T5U3-1; Sequence=Displayed; Name=3; IsoId=Q5T5U3-3; Sequence=VSP_028298, VSP_028300, VSP_028301; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein. Cell junction. Cytoplasmic vesicle membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Note=Localization to the Golgi is dependent on interaction with GTP-bound ARF1.


uniprotID: P62745
geneSymbol: RHOB
pdb: 2FV8;
name: Rho-related GTP-binding protein RhoB (Rho cDNA clone 6) (h6)
length: 196
go: ENSG00000143878;
drug: DB00083;
reactome:
R-HSA-114604;R-HSA-194840;R-HSA-416482;R-HSA-416572;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5663220;R-HSA-5666185;

sequence:
MAAIRKKLVVVGDGACGKTCLLIVFSKDEFPEVYVPTVFENYVADIEVDGKQVELALWDTAGQEDYDRLRPLSYPDTDVILMCFSVDSPDSLENIPEKWVPEVKHFCPNVPIILVANKKDLRSDEHVRTELARMKQEPVRTDDGRAMAVRIQAYDYLECSAKTKEGVREVFETATRAALQKRYGSQNGCINCCKVL

opentargets:
cell cortex [GO:0005938]; cell division site [GO:0032153]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; intracellular membrane-bounded organelle [GO:0043231]; late endosome membrane [GO:0031902]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein kinase binding [GO:0019901]; actin filament bundle assembly [GO:0051017]; actin filament organization [GO:0007015]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to ionizing radiation [GO:0071479]; endosome to lysosome transport [GO:0008333]; endothelial tube morphogenesis [GO:0061154]; establishment or maintenance of actin cytoskeleton polarity [GO:0030950]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular protein transport [GO:0006886]; mitotic cytokinesis [GO:0000281]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell migration [GO:0030336]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic process [GO:0043065]; positive regulation of endothelial cell migration [GO:0010595]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

location:
SUBCELLULAR LOCATION: Late endosome membrane; Lipid-anchor. Cell membrane; Lipid-anchor. Nucleus. Cleavage furrow. Note=Late endosomal membrane (geranylgeranylated form). Plasma membrane (farnesylated form). Also detected at the nuclear margin and in the nucleus. Translocates to the equatorial region before furrow formation in a ECT2-dependent manner.


uniprotID: Q7Z5B4
geneSymbol: RIC3
name: Protein RIC-3 (Resistant to inhibitor of cholinesterase 3)
length: 369
go: ENSG00000166405;
snps: rs17855498 rs55990541
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; acetylcholine receptor binding [GO:0033130]; protein binding involved in protein folding [GO:0044183]; cellular protein-containing complex assembly [GO:0034622]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; protein localization to cell surface [GO:0034394]; synaptic transmission, cholinergic [GO:0007271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=a; IsoId=Q7Z5B4-1; Sequence=Displayed; Name=2; Synonyms=d; IsoId=Q7Z5B4-2; Sequence=VSP_027940, VSP_027941; Name=3; Synonyms=c; IsoId=Q7Z5B4-3; Sequence=VSP_027939; Note=No experimental confirmation available.; Name=4; Synonyms=b; IsoId=Q7Z5B4-5; Sequence=VSP_027943; Name=5; Synonyms=e; IsoId=Q7Z5B4-6; Sequence=VSP_043786; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.


uniprotID: Q8NG50
geneSymbol: RDM1
name: RAD52 motif-containing protein 1 (RAD52 homolog B)
length: 284
go: ENSG00000278023;
snps: rs2280786 rs2251660
sequence:

opentargets:
Cajal body [GO:0015030]; cytosol [GO:0005829]; nucleolus [GO:0005730]; PML body [GO:0016605]; DNA binding [GO:0003677]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=12;  Name=1; Synonyms=RDM1alpha, Long N-terminal form; IsoId=Q8NG50-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=DeltaN-RDM1alpha, Short N-terminal form; IsoId=Q8NG50-2; Sequence=VSP_029648; Note=Produced by alternative promoter usage.; Name=3; Synonyms=RDM1beta; IsoId=Q8NG50-3; Sequence=VSP_029653, VSP_029654; Note=Produced by alternative splicing of isoform 1.; Name=4; Synonyms=DeltaN-RDM1beta; IsoId=Q8NG50-4; Sequence=VSP_029648, VSP_029653, VSP_029654; Note=Produced by alternative splicing of isoform 2.; Name=5; Synonyms=RDM1gamma; IsoId=Q8NG50-5; Sequence=VSP_029655; Note=Produced by alternative splicing of isoform 1.; Name=6; Synonyms=DeltaN-RDM1gamma; IsoId=Q8NG50-6; Sequence=VSP_029648, VSP_029655; Note=Produced by alternative splicing of isoform 2.; Name=7; Synonyms=RDM1delta; IsoId=Q8NG50-7; Sequence=VSP_029649, VSP_029653, VSP_029654; Note=Produced by alternative splicing of isoform 1.; Name=8; Synonyms=RDM1epsilon; IsoId=Q8NG50-8; Sequence=VSP_037151, VSP_029654; Note=Produced by alternative splicing of isoform 1.; Name=9; Synonyms=DeltaN-RDM1epsilon; IsoId=Q8NG50-9; Sequence=VSP_029648, VSP_037151, VSP_029654; Note=Produced by alternative splicing of isoform 2.; Name=10; Synonyms=RDM1zeta; IsoId=Q8NG50-10; Sequence=VSP_029650; Note=Produced by alternative splicing of isoform 1. In cells exposed to a mild heat schock.; Name=11; Synonyms=DeltaN-RDM1zeta; IsoId=Q8NG50-11; Sequence=VSP_029648, VSP_029650; Note=Produced by alternative splicing of isoform 2. In cells exposed to a mild heat schock.; Name=12; IsoId=Q8NG50-12; Sequence=VSP_044856; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17905820}. Cytoplasm {ECO:0000269|PubMed:17905820}. Nucleus, nucleolus {ECO:0000269|PubMed:17905820}. Note=Isoform 3 and isoform 10 are predominantly nuclear and nucleolar. After treatment with proteasomal inhibitors and mild heat-shock stress, isoform 1, isoform 3, isoform 5, isoform 7, isoform 8 and isoform 10 are relocalized to the nucleolus as dot-like or irregular subnuclear structures. Isoform 1 colocalized with nuclear promyelocytic leukemia (PML) and Cajal bodies (CB); this association with nuclear bodies is enhanced in response to proteotoxic stress. Isoform 3, but not isoform 1 and isoform 5, is relocalized in nucleolar caps during transcriptional arrest.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Nucleus, PML body. Nucleus, Cajal body. Note=Isoform 1 is predominantly cytoplasmic. Isoform 1 colocalized with nuclear promyelocytic leukemia (PML) and Cajal bodies (CB); this association with nuclear bodies is enhanced in response to proteotoxic stress.


uniprotID: Q9P2N5
geneSymbol: RBM27
name: RNA-binding protein 27 (RNA-binding motif protein 27)
length: 1060
go: ENSG00000091009;
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; positive regulation of RNA export from nucleus [GO:0046833]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus speckle. Note=Incorporated into the nuclear speckles and to speckles proximal to the nuclear periphery. Also localizes to punctate structures in the cytoplasm termed cytospeckles (By similarity). {ECO:0000250}.


uniprotID: P0DJH9
geneSymbol: RD3L
name: Protein RD3-like (Retinal degeneration protein 3-like)
length: 198
sequence:
MPLFGWMKWPKNDSYKPTHYPGSDIVTKTLLRELKWHLKERERLIQEIENEQKVKKTGVDYNWLRNYQNPHTTIPVTEQRQLEVLCSQVQPCQTGTILSRFREVLAENDVLPWEIVYIFKQVLKDFLSSSDRGSEQEDLEDSGSMDCSAPSVIQGDSSKRADKDEIPTISSYVDKNTKDRFPVFSHRIWNLPYYHPSS


uniprotID: P07949
geneSymbol: RET
reactome: R-HSA-5673001;R-HSA-8853659;
pdb: 1XPD;2IVS;2IVT;2IVU;2IVV;2X2K;2X2L;2X2M;2X2U;4CKI;4CKJ;4UX8;5AMN;5FM2;5FM3;6FEK;
length: 1114
go: ENSG00000165731;
drug: DB08764;DB08875;DB05216;DB08901;DB08896;DB00398;
name:
Proto-oncogene tyrosine-protein kinase receptor Ret (EC 2.7.10.1) (Cadherin family member 12) (Proto-oncogene c-Ret) [Cleaved into: Soluble RET kinase fragment; Extracellular cell-membrane anchored RET cadherin 120 kDa fragment]

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; early endosome [GO:0005769]; endosome membrane [GO:0010008]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; membrane raft [GO:0045121]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; plasma membrane protein complex [GO:0098797]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor activity [GO:0038023]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of MAPK activity [GO:0000187]; axon guidance [GO:0007411]; cell differentiation [GO:0030154]; cellular response to retinoic acid [GO:0071300]; embryonic epithelial tube formation [GO:0001838]; enteric nervous system development [GO:0048484]; glial cell-derived neurotrophic factor receptor signaling pathway [GO:0035860]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; innervation [GO:0060384]; lymphocyte migration into lymphoid organs [GO:0097021]; MAPK cascade [GO:0000165]; membrane protein proteolysis [GO:0033619]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; neural crest cell migration [GO:0001755]; neuron cell-cell adhesion [GO:0007158]; neuron maturation [GO:0042551]; Peyer's patch morphogenesis [GO:0061146]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of cell migration [GO:0030335]; positive regulation of cell size [GO:0045793]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001241]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of metanephric glomerulus development [GO:0072300]; positive regulation of neuron maturation [GO:0014042]; positive regulation of neuron projection development [GO:0010976]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription, DNA-templated [GO:0045893]; posterior midgut development [GO:0007497]; protein phosphorylation [GO:0006468]; regulation of axonogenesis [GO:0050770]; regulation of cell adhesion [GO:0030155]; response to drug [GO:0042493]; response to pain [GO:0048265]; retina development in camera-type eye [GO:0060041]; signal transduction [GO:0007165]; ureter maturation [GO:0035799]; ureteric bud development [GO:0001657]

snps:
rs76764689 rs77596424 rs192489011 rs747483905 rs76397662 rs149403911 rs76736111 rs79661516 rs562449603 rs541929171 rs35118262 rs34682185 rs77702891 rs1060499894 rs80236571 rs774829203 rs762472027 rs78098482 rs183729115 rs746970700 rs767601598 rs552057730 rs138624658 rs537874538 rs9282834 rs377767393 rs77558292 rs77558292 rs377767396 rs77939446 rs377767391 rs377767391 rs377767391 rs80069458 rs377767397 rs79781594 rs76262710 rs76262710 rs79781594 rs79781594 rs77503355 rs77316810 rs77316810 rs77503355 rs79890926 rs77503355 rs377767405 rs377767405 rs377767405 rs121913308 rs377767408 rs75996173 rs75076352 rs75076352 rs75076352 rs77709286 rs75996173 rs78935588 rs1799939 rs141185224 rs34288963 rs75075748 rs78014899 rs75686697 rs587778656 rs75030001 rs77724903 rs79658334 rs79658334 rs34617196 rs200127630 rs55947360 rs377767429 rs75234356 rs76087194 rs377767430 rs74799832 rs377767432 rs377767432 rs76534745 rs17158558 rs79853121 rs79853121 rs536486113 rs587778659 rs149513065 rs775583354 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=RET51; IsoId=P07949-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; Synonyms=RET9; IsoId=P07949-2; Sequence=VSP_040735; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19823924, ECO:0000269|PubMed:28953886}; Single-pass type I membrane protein {ECO:0000269|PubMed:19823924}. Endosome membrane {ECO:0000269|PubMed:19823924}; Single-pass type I membrane protein {ECO:0000269|PubMed:19823924}.


uniprotID: Q9GZR2
geneSymbol: REXO4
length: 422
go: ENSG00000148300;
snps: rs6597630 rs2285487
name:
RNA exonuclease 4 (EC 3.1.-.-) (Exonuclease XPMC2) (Prevents mitotic catastrophe 2 protein homolog) (hPMC2)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleus [GO:0005634]; 3'-5' exonuclease activity [GO:0008408]; DNA-binding transcription factor activity [GO:0003700]; RNA binding [GO:0003723]; regulation of transcription, DNA-templated [GO:0006355]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZR2-1; Sequence=Displayed; Name=2; IsoId=Q9GZR2-2; Sequence=VSP_014796, VSP_014797; Note=Gene prediction based on EST data. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:10908561, ECO:0000269|PubMed:12429849}.


uniprotID: Q9BQ08
geneSymbol: RETNLB
length: 111
go: ENSG00000163515;
opentargets: extracellular space [GO:0005615]; hormone activity [GO:0005179]; cell proliferation [GO:0008283]
snps: rs11708527
location: SUBCELLULAR LOCATION: Secreted.
name:
Resistin-like beta (Colon and small intestine-specific cysteine-rich protein) (Colon carcinoma-related gene protein) (Cysteine-rich secreted protein A12-alpha-like 1) (Cysteine-rich secreted protein FIZZ2) (RELMbeta)

sequence:
MGPSSCLLLILIPLLQLINPGSTQCSLDSVMDKKIKDVLNSLEYSPSPISKKLSCASVKSQGRPSSCPAGMAVTGCACGYGCGSWDVQLETTCHCQCSVVDWTTARCCHLT


uniprotID: P15927
geneSymbol: RPA2
pdb: 1DPU;1L1O;1QUQ;1Z1D;2PI2;2PQA;2Z6K;3KDF;4MQV;4OU0;
length: 270
go: ENSG00000117748;
snps: rs28988896 rs28988897 rs28904899
reactome:
R-HSA-110312;R-HSA-110314;R-HSA-110320;R-HSA-174437;R-HSA-176187;R-HSA-3371453;R-HSA-3371511;R-HSA-5358565;R-HSA-5358606;R-HSA-5651801;R-HSA-5655862;R-HSA-5656121;R-HSA-5656169;R-HSA-5685938;R-HSA-5685942;R-HSA-5693607;R-HSA-5693616;R-HSA-5696395;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-6783310;R-HSA-6804756;R-HSA-68962;R-HSA-69166;R-HSA-69473;R-HSA-912446;

name:
Replication protein A 32 kDa subunit (RP-A p32) (Replication factor A protein 2) (RF-A protein 2) (Replication protein A 34 kDa subunit) (RP-A p34)

sequence:

opentargets:
chromatin [GO:0000785]; chromosome, telomeric region [GO:0000781]; condensed nuclear chromosome [GO:0000794]; DNA replication factor A complex [GO:0005662]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; site of double-strand break [GO:0035861]; damaged DNA binding [GO:0003684]; double-stranded DNA binding [GO:0003690]; enzyme binding [GO:0019899]; G-rich strand telomeric DNA binding [GO:0098505]; protein N-terminus binding [GO:0047485]; protein phosphatase binding [GO:0019903]; sequence-specific DNA binding [GO:0043565]; single-stranded DNA binding [GO:0003697]; ubiquitin protein ligase binding [GO:0031625]; base-excision repair [GO:0006284]; DNA damage response, detection of DNA damage [GO:0042769]; DNA replication [GO:0006260]; DNA topological change [GO:0006265]; DNA unwinding involved in DNA replication [GO:0006268]; double-strand break repair via homologous recombination [GO:0000724]; error-free translesion synthesis [GO:0070987]; error-prone translesion synthesis [GO:0042276]; G1/S transition of mitotic cell cycle [GO:0000082]; heteroduplex formation [GO:0030491]; interstrand cross-link repair [GO:0036297]; mismatch repair [GO:0006298]; mitotic G1 DNA damage checkpoint [GO:0031571]; mitotic recombination [GO:0006312]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; positive regulation of helicase activity [GO:0051096]; protein localization to chromosome [GO:0034502]; reciprocal meiotic recombination [GO:0007131]; regulation of cellular response to heat [GO:1900034]; regulation of DNA damage checkpoint [GO:2000001]; regulation of double-strand break repair via homologous recombination [GO:0010569]; telomere maintenance [GO:0000723]; telomere maintenance via recombination [GO:0000722]; telomere maintenance via semi-conservative replication [GO:0032201]; telomere maintenance via telomerase [GO:0007004]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P15927-1; Sequence=Displayed; Name=2; IsoId=P15927-2; Sequence=VSP_017201; Note=No experimental confirmation available.; Name=3; IsoId=P15927-3; Sequence=VSP_017202; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10982866, ECO:0000269|PubMed:12814551, ECO:0000269|PubMed:20154705, ECO:0000269|PubMed:21504906}. Nucleus, PML body {ECO:0000269|PubMed:12814551}. Note=Redistributes to discrete nuclear foci upon DNA damage in an ATR-dependent manner. {ECO:0000269|PubMed:12814551}.


uniprotID: Q9NWB1
geneSymbol: RBFOX1
pdb: 2ERR;2N82;4ZKA;
length: 397
go: ENSG00000078328;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
name:
RNA binding protein fox-1 homolog 1 (Ataxin-2-binding protein 1) (Fox-1 homolog A) (Hexaribonucleotide-binding protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; trans-Golgi network [GO:0005802]; mRNA binding [GO:0003729]; protein C-terminus binding [GO:0008022]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; nervous system development [GO:0007399]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA splicing [GO:0008380]; RNA transport [GO:0050658]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NWB1-1; Sequence=Displayed; Name=2; Synonyms=Gamma; IsoId=Q9NWB1-2; Sequence=VSP_030874, VSP_030876; Name=3; Synonyms=1; IsoId=Q9NWB1-3; Sequence=VSP_030875; Name=4; Synonyms=Alpha; IsoId=Q9NWB1-4; Sequence=VSP_030874, VSP_030876, VSP_030878; Name=5; Synonyms=Beta; IsoId=Q9NWB1-5; Sequence=VSP_030874, VSP_030876, VSP_030877; 


uniprotID: P35249
geneSymbol: RFC4
length: 363
go: ENSG00000163918;
snps: rs2066497
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
reactome:
R-HSA-110312;R-HSA-110314;R-HSA-110320;R-HSA-174411;R-HSA-176187;R-HSA-5651801;R-HSA-5655862;R-HSA-5656121;R-HSA-5656169;R-HSA-5685938;R-HSA-5685942;R-HSA-5693607;R-HSA-5693616;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-6804756;R-HSA-69091;R-HSA-69473;

name:
Replication factor C subunit 4 (Activator 1 37 kDa subunit) (A1 37 kDa subunit) (Activator 1 subunit 4) (Replication factor C 37 kDa subunit) (RF-C 37 kDa subunit) (RFC37)

sequence:

opentargets:
Ctf18 RFC-like complex [GO:0031390]; DNA replication factor C complex [GO:0005663]; Elg1 RFC-like complex [GO:0031391]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; DNA damage response, detection of DNA damage [GO:0042769]; DNA replication [GO:0006260]; DNA strand elongation involved in DNA replication [GO:0006271]; DNA-dependent DNA replication [GO:0006261]; error-free translesion synthesis [GO:0070987]; error-prone translesion synthesis [GO:0042276]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; positive regulation of DNA-directed DNA polymerase activity [GO:1900264]; telomere maintenance via semi-conservative replication [GO:0032201]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35249-1; Sequence=Displayed; Name=2; IsoId=P35249-2; Sequence=VSP_055862, VSP_055863; Note=No experimental confirmation available.; 


uniprotID: F8VTS6
geneSymbol: RFPL4AL1
name: Ret finger protein-like 4A-like protein 1
length: 287
go: ENSG00000229292;
opentargets: metal ion binding [GO:0046872]
sequence:


uniprotID: Q2PPJ7
geneSymbol: RALGAPA2
reactome: R-HSA-1445148;
name: Ral GTPase-activating protein subunit alpha-2 (250 kDa substrate of Akt) (AS250) (p220)
length: 1873
go: ENSG00000188559;
snps: rs6137081
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16490346}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; protein heterodimerization activity [GO:0046982]; activation of GTPase activity [GO:0090630]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2PPJ7-1; Sequence=Displayed; Name=2; IsoId=Q2PPJ7-2; Sequence=VSP_025247; Name=3; IsoId=Q2PPJ7-3; Sequence=VSP_025248; 


uniprotID: Q33E94
geneSymbol: RFX4
name: Transcription factor RFX4 (Regulatory factor X 4) (Testis development protein NYD-SP10)
length: 735
go: ENSG00000111783;
snps: rs17038766
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00858}.
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]; cilium assembly [GO:0060271]; negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning [GO:0021914]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of protein processing [GO:0070613]; regulation of transcription by RNA polymerase II [GO:0006357]; telencephalon development [GO:0021537]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=RFX4-D, RFX4_v3; IsoId=Q33E94-1; Sequence=Displayed; Name=2; Synonyms=RFX4-C, RFX4_v4; IsoId=Q33E94-2; Sequence=VSP_030243; Name=3; Synonyms=RFX4-A, RFX4_v1; IsoId=Q33E94-3; Sequence=VSP_030242, VSP_030244; Name=4; IsoId=Q33E94-4; Sequence=VSP_030243, VSP_030245, VSP_030246; 


uniprotID: Q92546
geneSymbol: RGP1
reactome: R-HSA-6811438;R-HSA-6811440;R-HSA-8876198;
name: RAB6A-GEF complex partner protein 2 (Retrograde Golgi transport protein RGP1 homolog)
length: 391
go: ENSG00000107185;
sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; RIC1-RGP1 guanyl-nucleotide exchange factor complex [GO:0034066]; trans-Golgi network membrane [GO:0032588]; Rab GTPase binding [GO:0017137]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; negative regulation of cellular protein catabolic process [GO:1903363]; positive regulation of GTPase activity [GO:0043547]; retrograde transport, endosome to Golgi [GO:0042147]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23091056}. Membrane {ECO:0000269|PubMed:23091056}.


uniprotID: Q86X27
geneSymbol: RALGPS2
length: 583
go: ENSG00000116191;
snps: rs35161510
name:
Ras-specific guanine nucleotide-releasing factor RalGPS2 (Ral GEF with PH domain and SH3-binding motif 2) (RalA exchange factor RalGPS2)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; guanyl-nucleotide exchange factor activity [GO:0005085]; regulation of Ral protein signal transduction [GO:0032485]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86X27-1; Sequence=Displayed; Name=2; IsoId=Q86X27-2; Sequence=VSP_031971; Note=No experimental confirmation available.; Name=3; IsoId=Q86X27-3; Sequence=VSP_054909; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Associates with membranes through the PH domain. {ECO:0000250}.


uniprotID: O15539
geneSymbol: RGS5
reactome: R-HSA-418594;
pdb: 2CRP;
name: Regulator of G-protein signaling 5 (RGS5)
length: 181
go: ENSG00000143248;
sequence:
MCKGLAALPHSCLERAKEIKIKLGILLQKPDSVGDLVIPYNEKPEKPAKTQKTSLDEALQWRDSLDKLLQNNYGLASFKSFLKSEFSEENLEFWIACEDYKKIKSPAKMAEKAKQIYEEFIQTEAPKEVNIDHFTKDITMKNLVEPSLSSFDMAQKRIHALMEKDSLPRFVRSEFYQELIK

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; GTPase activator activity [GO:0005096]; negative regulation of signal transduction [GO:0009968]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15539-1; Sequence=Displayed; Name=2; Synonyms=RGS5s; IsoId=O15539-2; Sequence=VSP_043094; Note=Acts as an endogenous negative regulator of isoform 1.; Name=3; IsoId=O15539-3; Sequence=VSP_045086; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:15670159}. Membrane {ECO:0000269|PubMed:15670159}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:15670159}.


uniprotID: Q02094
geneSymbol: RHAG
reactome: R-HSA-1237044;R-HSA-1247673;R-HSA-444411;R-HSA-5619042;
length: 409
go: ENSG00000112077;
name:
Ammonium transporter Rh type A (Erythrocyte membrane glycoprotein Rh50) (Erythrocyte plasma membrane 50 kDa glycoprotein) (Rh50A) (Rhesus blood group family type A glycoprotein) (Rh family type A glycoprotein) (Rh type A glycoprotein) (Rhesus blood group-associated ammonia channel) (Rhesus blood group-associated glycoprotein) (CD antigen CD241)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ammonium transmembrane transporter activity [GO:0008519]; ankyrin binding [GO:0030506]; carbon dioxide transmembrane transporter activity [GO:0035379]; leak channel activity [GO:0022840]; ammonium transmembrane transport [GO:0072488]; ammonium transport [GO:0015696]; bicarbonate transport [GO:0015701]; carbon dioxide transport [GO:0015670]; cellular ion homeostasis [GO:0006873]; erythrocyte development [GO:0048821]; monovalent inorganic cation transport [GO:0015672]; multicellular organismal iron ion homeostasis [GO:0060586]

snps:
rs863225469 rs863225468 rs121918586 rs144305805 rs902283342 rs1058063 rs16879498 rs121918587 rs104893987 rs121918589 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02094-1; Sequence=Displayed; Name=2; IsoId=Q02094-2; Sequence=VSP_047629, VSP_047630; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:18931342, ECO:0000269|PubMed:22012326}; Multi-pass membrane protein.


uniprotID: Q9P2F6
geneSymbol: ARHGAP20
reactome: R-HSA-194840;
pdb: 3MSX;
name: Rho GTPase-activating protein 20 (Rho-type GTPase-activating protein 20)
length: 1191
go: ENSG00000137727;
snps: rs7936020 rs17853925
sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=1ad; IsoId=Q9P2F6-1; Sequence=Displayed; Name=2; Synonyms=1be; IsoId=Q9P2F6-2; Sequence=VSP_024294; Name=3; Synonyms=1c; IsoId=Q9P2F6-3; Sequence=VSP_024295; Name=4; Synonyms=1e, 1d; IsoId=Q9P2F6-4; Sequence=VSP_024296; 


uniprotID: Q9BYZ6
geneSymbol: RHOBTB2
reactome: R-HSA-194840;
name: Rho-related BTB domain-containing protein 2 (Deleted in breast cancer 2 gene protein) (p83)
length: 727
go: ENSG00000008853;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein kinase binding [GO:0019901]; actin cytoskeleton organization [GO:0030036]; actin cytoskeleton reorganization [GO:0031532]; actin filament organization [GO:0007015]; cell migration [GO:0016477]; cell morphogenesis [GO:0000902]; engulfment of apoptotic cell [GO:0043652]; positive regulation of actin filament polymerization [GO:0030838]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BYZ6-1; Sequence=Displayed; Name=2; IsoId=Q9BYZ6-2; Sequence=VSP_054098; Name=3; IsoId=Q9BYZ6-3; Sequence=VSP_054099; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9P227
geneSymbol: ARHGAP23
reactome: R-HSA-194840;
name: Rho GTPase-activating protein 23 (Rho-type GTPase-activating protein 23)
length: 1491
go: ENSG00000275832;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; GTPase activator activity [GO:0005096]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P227-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=2; IsoId=Q9P227-2; Sequence=VSP_023708, VSP_023709; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: P61586
geneSymbol: RHOA
name: Transforming protein RhoA (Rho cDNA clone 12) (h12)
length: 193
go: ENSG00000067560;
drug: DB04315;
reactome:
R-HSA-114604;R-HSA-193634;R-HSA-194840;R-HSA-198203;R-HSA-209563;R-HSA-2173791;R-HSA-392451;R-HSA-3928662;R-HSA-3928663;R-HSA-4086400;R-HSA-416482;R-HSA-416550;R-HSA-416572;R-HSA-4420097;R-HSA-5625740;R-HSA-5625900;R-HSA-5625970;R-HSA-5627117;R-HSA-5663220;R-HSA-5666185;R-HSA-5689896;R-HSA-6785631;R-HSA-6798695;R-HSA-8849471;R-HSA-8985586;

pdb:
1A2B;1CC0;1CXZ;1DPF;1FTN;1KMQ;1LB1;1OW3;1S1C;1TX4;1X86;1XCG;2RGN;3KZ1;3LW8;3LWN;3LXR;3MSX;3T06;4D0N;4XH9;4XOI;4XSG;4XSH;5A0F;5BWM;5C2K;5C4M;5EZ6;5FR1;5FR2;5HPY;5IRC;5JCP;5JHG;5JHH;5M6X;5M70;5ZHX;6BC0;6BCA;6BCB;

sequence:
MAAIRKKLVIVGDGACGKTCLLIVFSKDQFPEVYVPTVFENYVADIEVDGKQVELALWDTAGQEDYDRLRPLSYPDTDVILMCFSIDSPDSLENIPEKWTPEVKHFCPNVPIILVGNKKDLRNDEHTRRELAKMKQEPVKPEEGRDMANRIGAFGYMECSAKTKDGVREVFEMATRAALQARRGKKKSGCLVL

opentargets:
apical junction complex [GO:0043296]; axon [GO:0030424]; cell cortex [GO:0005938]; cell division site [GO:0032153]; cell junction [GO:0030054]; cell periphery [GO:0071944]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; ficolin-1-rich granule membrane [GO:0101003]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; intracellular membrane-bounded organelle [GO:0043231]; lamellipodium [GO:0030027]; midbody [GO:0030496]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; ruffle membrane [GO:0032587]; secretory granule membrane [GO:0030667]; vesicle [GO:0031982]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; myosin binding [GO:0017022]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; Rho GDP-dissociation inhibitor binding [GO:0051022]; actin cytoskeleton organization [GO:0030036]; actin cytoskeleton reorganization [GO:0031532]; actin filament bundle assembly [GO:0051017]; actin filament organization [GO:0007015]; alpha-beta T cell lineage commitment [GO:0002363]; androgen receptor signaling pathway [GO:0030521]; angiotensin-mediated vasoconstriction involved in regulation of systemic arterial blood pressure [GO:0001998]; apical junction assembly [GO:0043297]; apolipoprotein A-I-mediated signaling pathway [GO:0038027]; beta selection [GO:0043366]; cell junction assembly [GO:0034329]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; cellular response to chemokine [GO:1990869]; cellular response to lipopolysaccharide [GO:0071222]; cerebral cortex cell migration [GO:0021795]; cleavage furrow formation [GO:0036089]; endothelial cell migration [GO:0043542]; endothelial tube lumen extension [GO:0097498]; ephrin receptor signaling pathway [GO:0048013]; establishment of epithelial cell apical/basal polarity [GO:0045198]; establishment or maintenance of actin cytoskeleton polarity [GO:0030950]; forebrain radial glial cell differentiation [GO:0021861]; G protein-coupled receptor signaling pathway [GO:0007186]; GTP metabolic process [GO:0046039]; mitotic cleavage furrow formation [GO:1903673]; mitotic spindle assembly [GO:0090307]; negative chemotaxis [GO:0050919]; negative regulation of axonogenesis [GO:0050771]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of cell size [GO:0045792]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of intracellular steroid hormone receptor signaling pathway [GO:0033144]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of oxidative phosphorylation [GO:0090324]; negative regulation of reactive oxygen species biosynthetic process [GO:1903427]; neuron projection morphogenesis [GO:0048812]; neutrophil degranulation [GO:0043312]; odontogenesis [GO:0042476]; ossification involved in bone maturation [GO:0043931]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; positive regulation of axonogenesis [GO:0050772]; positive regulation of cell growth [GO:0030307]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of cytokinesis [GO:0032467]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of lipase activity [GO:0060193]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of podosome assembly [GO:0071803]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of T cell migration [GO:2000406]; positive regulation of translation [GO:0045727]; positive regulation of vascular smooth muscle contraction [GO:1904695]; protein deubiquitination [GO:0016579]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of calcium ion transport [GO:0051924]; regulation of cell migration [GO:0030334]; regulation of cell motility [GO:2000145]; regulation of cell shape [GO:0008360]; regulation of dendrite development [GO:0050773]; regulation of focal adhesion assembly [GO:0051893]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of modification of postsynaptic actin cytoskeleton [GO:1905274]; regulation of neural precursor cell proliferation [GO:2000177]; regulation of osteoblast proliferation [GO:0033688]; regulation of small GTPase mediated signal transduction [GO:0051056]; regulation of systemic arterial blood pressure by endothelin [GO:0003100]; regulation of transcription by RNA polymerase II [GO:0006357]; response to amino acid [GO:0043200]; response to ethanol [GO:0045471]; response to glucocorticoid [GO:0051384]; response to glucose [GO:0009749]; response to hypoxia [GO:0001666]; response to mechanical stimulus [GO:0009612]; Rho protein signal transduction [GO:0007266]; Roundabout signaling pathway [GO:0035385]; skeletal muscle satellite cell migration [GO:1902766]; skeletal muscle tissue development [GO:0007519]; stress fiber assembly [GO:0043149]; stress-activated protein kinase signaling cascade [GO:0031098]; substantia nigra development [GO:0021762]; trabecula morphogenesis [GO:0061383]; transforming growth factor beta receptor signaling pathway [GO:0007179]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; viral process [GO:0016032]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]; wound healing, spreading of cells [GO:0044319]

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Cleavage furrow. Cytoplasm, cell cortex {ECO:0000269|PubMed:9635436}. Midbody. Cell projection, lamellipodium {ECO:0000250}. Note=Localized to cell-cell contacts in calcium-treated keratinocytes (By similarity). Translocates to the equatorial region before furrow formation in a ECT2-dependent manner. Localizes to the equatorial cell cortex (at the site of the presumptive furrow) in early anaphase in an activated form and in a myosin- and actin-independent manner. {ECO:0000250}.


uniprotID: Q96E17
geneSymbol: RAB3C
reactome: R-HSA-8873719;
name: Ras-related protein Rab-3C
length: 227
go: ENSG00000152932;
sequence:

opentargets:
anchored component of synaptic vesicle membrane [GO:0098993]; cytosol [GO:0005829]; endosome [GO:0005768]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; synaptic vesicle [GO:0008021]; vesicle [GO:0031982]; GTP binding [GO:0005525]; GTP-dependent protein binding [GO:0030742]; GTPase activity [GO:0003924]; myosin V binding [GO:0031489]; antigen processing and presentation [GO:0019882]; intracellular protein transport [GO:0006886]; protein localization to plasma membrane [GO:0072659]; protein secretion [GO:0009306]; Rab protein signal transduction [GO:0032482]; regulation of exocytosis [GO:0017157]; vesicle docking involved in exocytosis [GO:0006904]


uniprotID: Q16769
geneSymbol: QPCT
reactome: R-HSA-6798695;
length: 361
go: ENSG00000115828;
drug: DB04581;DB04636;DB04622;
snps: rs2255991 rs895245310 rs4670696
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:18486145}.
pdb:
1MOI;2AFM;2AFO;2AFS;2AFU;2AFW;2AFX;2AFZ;2ZED;2ZEE;2ZEF;2ZEG;2ZEH;2ZEL;2ZEM;2ZEN;2ZEO;2ZEP;3PBB;3PBE;3SI0;4YU9;4YWY;6GBX;

name:
Glutaminyl-peptide cyclotransferase (EC 2.3.2.5) (Glutaminyl cyclase) (QC) (sQC) (Glutaminyl-tRNA cyclotransferase) (Glutamyl cyclase) (EC)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; glutaminyl-peptide cyclotransferase activity [GO:0016603]; zinc ion binding [GO:0008270]; cellular protein modification process [GO:0006464]; neutrophil degranulation [GO:0043312]; peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase [GO:0017186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16769-1; Sequence=Displayed; Name=2; IsoId=Q16769-2; Sequence=VSP_038487; 


uniprotID: Q8N4Z0
geneSymbol: RAB42
reactome: R-HSA-8873719;
name: Ras-related protein Rab-42
length: 218
go: ENSG00000188060;
opentargets: membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4Z0-2; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data. {ECO:0000305}; Name=2; IsoId=Q8N4Z0-1; Sequence=VSP_059258; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P62820}; Lipid-anchor {ECO:0000250|UniProtKB:P62820}.


uniprotID: Q7Z5J4
geneSymbol: RAI1
reactome: R-HSA-400253;
name: Retinoic acid-induced protein 1
length: 1906
go: ENSG00000108557;
snps: rs3803763 rs11649804 rs1759075
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=In neurons, localized to neurites. {ECO:0000250}.
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; enhancer binding [GO:0035326]; metal ion binding [GO:0046872]; transcription regulatory region DNA binding [GO:0044212]; circadian regulation of gene expression [GO:0032922]; negative regulation of multicellular organism growth [GO:0040015]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z5J4-1; Sequence=Displayed; Name=2; IsoId=Q7Z5J4-2; Sequence=VSP_010995, VSP_010996, VSP_010999, VSP_011002, VSP_011003; Name=3; IsoId=Q7Z5J4-3; Sequence=VSP_011000, VSP_011001; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z5J4-4; Sequence=VSP_010997, VSP_010998; Note=No experimental confirmation available.; 


uniprotID: Q9Y3P9
geneSymbol: RABGAP1
reactome: R-HSA-8854214;
pdb: 4NC6;
length: 1069
go: ENSG00000011454;
name:
Rab GTPase-activating protein 1 (GAP and centrosome-associated protein) (Rab6 GTPase-activating protein GAPCenA)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; microtubule associated complex [GO:0005875]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; tubulin binding [GO:0015631]; activation of GTPase activity [GO:0090630]; cell cycle [GO:0007049]; intracellular protein transport [GO:0006886]; regulation of GTPase activity [GO:0043087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000269|PubMed:10202141}; IsoId=Q9Y3P9-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14702039}; IsoId=Q9Y3P9-2; Sequence=VSP_052510, VSP_052513, VSP_052514; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q9Y3P9-3; Sequence=VSP_052515; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000269|PubMed:14702039}; IsoId=Q9Y3P9-4; Sequence=VSP_052511, VSP_052512; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10202141}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:10202141}. Note=Predominantly cytosolic but also associated with the centrosome. {ECO:0000269|PubMed:10202141}.


uniprotID: Q8IZ40
geneSymbol: RCOR2
name: REST corepressor 2
length: 523
go: ENSG00000167771;
snps: rs320108
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; transcriptional repressor complex [GO:0017053]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; negative regulation of transcription, DNA-templated [GO:0045892]


uniprotID: Q8NFH8
geneSymbol: REPS2
reactome: R-HSA-8856825;R-HSA-8856828;
pdb: 1IQ3;
length: 660
go: ENSG00000169891;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
RalBP1-associated Eps domain-containing protein 2 (Partner of RalBP1) (RalBP1-interacting protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; calcium ion binding [GO:0005509]; epidermal growth factor receptor signaling pathway [GO:0007173]; membrane organization [GO:0061024]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=REPS2a, Long; IsoId=Q8NFH8-1; Sequence=Displayed; Name=2; Synonyms=REPS2b, Short; IsoId=Q8NFH8-2; Sequence=VSP_007958; Name=3; IsoId=Q8NFH8-3; Sequence=VSP_007958, VSP_040086; Name=4; IsoId=Q8NFH8-4; Sequence=VSP_040086; 


uniprotID: Q9BWE0
geneSymbol: REPIN1
length: 567
go: ENSG00000214022;
snps: rs3735165 rs35090619 rs11553624 rs17173702 rs17173703
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10606657}.
name:
Replication initiator 1 (60 kDa origin-specific DNA-binding protein) (60 kDa replication initiation region protein) (ATT-binding protein) (DHFR oribeta-binding protein RIP60) (Zinc finger protein 464)

sequence:

opentargets:
nuclear origin of replication recognition complex [GO:0005664]; nucleus [GO:0005634]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; DNA replication [GO:0006260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BWE0-3; Sequence=Displayed; Name=2; IsoId=Q9BWE0-4; Sequence=VSP_054069; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: P02753
geneSymbol: RBP4
reactome: R-HSA-2453864;R-HSA-2453902;R-HSA-6809583;R-HSA-975634;
length: 201
go: ENSG00000138207;
drug: DB06985;DB05076;DB03917;DB00162;
snps: rs121918584 rs794726862 rs794726861 rs121918585
pdb:
1BRP;1BRQ;1JYD;1JYJ;1QAB;1RBP;1RLB;2WQ9;2WQA;2WR6;3BSZ;3FMZ;4O9S;4PSQ;5NTY;5NU2;5NU6;5NU7;5NU8;5NU9;5NUA;5NUB;

name:
Retinol-binding protein 4 (Plasma retinol-binding protein) (PRBP) (RBP) [Cleaved into: Plasma retinol-binding protein(1-182); Plasma retinol-binding protein(1-181); Plasma retinol-binding protein(1-179); Plasma retinol-binding protein(1-176)]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; protein-containing complex [GO:0032991]; protein heterodimerization activity [GO:0046982]; retinal binding [GO:0016918]; retinol binding [GO:0019841]; retinol transmembrane transporter activity [GO:0034632]; cardiac muscle tissue development [GO:0048738]; embryonic organ morphogenesis [GO:0048562]; embryonic retina morphogenesis in camera-type eye [GO:0060059]; embryonic skeletal system development [GO:0048706]; eye development [GO:0001654]; female genitalia morphogenesis [GO:0048807]; gluconeogenesis [GO:0006094]; glucose homeostasis [GO:0042593]; heart development [GO:0007507]; heart trabecula formation [GO:0060347]; lung development [GO:0030324]; maintenance of gastrointestinal epithelium [GO:0030277]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; positive regulation of immunoglobulin secretion [GO:0051024]; positive regulation of insulin secretion [GO:0032024]; response to ethanol [GO:0045471]; response to retinoic acid [GO:0032526]; retinoid metabolic process [GO:0001523]; retinol metabolic process [GO:0042572]; retinol transport [GO:0034633]; urinary bladder development [GO:0060157]; uterus development [GO:0060065]; vagina development [GO:0060068]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12237133, ECO:0000269|PubMed:2444024, ECO:0000269|PubMed:5541771}.


uniprotID: O43251
geneSymbol: RBFOX2
reactome: R-HSA-6803529;
pdb: 2CQ3;
length: 390
go: ENSG00000100320;
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm {ECO:0000250}.
name:
RNA binding protein fox-1 homolog 2 (Fox-1 homolog B) (Hexaribonucleotide-binding protein 2) (RNA-binding motif protein 9) (RNA-binding protein 9) (Repressor of tamoxifen transcriptional activity)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; dendrite morphogenesis [GO:0048813]; fibroblast growth factor receptor signaling pathway [GO:0008543]; intracellular estrogen receptor signaling pathway [GO:0030520]; mRNA processing [GO:0006397]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; neuromuscular process controlling balance [GO:0050885]; radial glia guided migration of Purkinje cell [GO:0021942]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of cell proliferation [GO:0042127]; regulation of definitive erythrocyte differentiation [GO:0010724]; RNA metabolic process [GO:0016070]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; IsoId=O43251-1; Sequence=Displayed; Name=2; IsoId=O43251-2; Sequence=VSP_007180, VSP_030890; Name=3; IsoId=O43251-3; Sequence=VSP_007180, VSP_007181, VSP_007182; Note=No experimental confirmation available. {ECO:0000244|PubMed:24129315}; Name=4; IsoId=O43251-4; Sequence=VSP_007180, VSP_007183; Note=No experimental confirmation available.; Name=5; IsoId=O43251-5; Sequence=VSP_007180, VSP_007182; Note=No experimental confirmation available. {ECO:0000244|PubMed:24129315}; Name=6; IsoId=O43251-6; Sequence=VSP_030889; Name=7; IsoId=O43251-7; Sequence=VSP_007182, VSP_030891; Name=8; IsoId=O43251-8; Sequence=VSP_030889, VSP_030890; Name=9; IsoId=O43251-9; Sequence=VSP_007180, VSP_030890, VSP_007182, VSP_007183; Name=10; IsoId=O43251-10; Sequence=VSP_007180; 


uniprotID: P35244
geneSymbol: RPA3
pdb: 1L1O;1QUQ;2PI2;2PQA;2Z6K;3KDF;
name: Replication protein A 14 kDa subunit (RP-A p14) (Replication factor A protein 3) (RF-A protein 3)
length: 121
go: ENSG00000106399;
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-110312;R-HSA-110314;R-HSA-110320;R-HSA-174437;R-HSA-176187;R-HSA-3371453;R-HSA-3371511;R-HSA-5358565;R-HSA-5358606;R-HSA-5651801;R-HSA-5655862;R-HSA-5656121;R-HSA-5656169;R-HSA-5685938;R-HSA-5685942;R-HSA-5693607;R-HSA-5693616;R-HSA-5696395;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-6783310;R-HSA-6804756;R-HSA-68962;R-HSA-69166;R-HSA-69473;R-HSA-912446;

sequence:
MVDMMDLPRSRINAGMLAQFIDKPVCFVGRLEKIHPTGKMFILSDGEGKNGTIELMEPLDEEISGIVEVVGRVTAKATILCTSYVQFKEDSHPFDLGLYNEAVKIIHDFPQFYPLGIVQHD

opentargets:
DNA replication factor A complex [GO:0005662]; nucleoplasm [GO:0005654]; site of double-strand break [GO:0035861]; damaged DNA binding [GO:0003684]; single-stranded DNA binding [GO:0003697]; base-excision repair [GO:0006284]; DNA damage response, detection of DNA damage [GO:0042769]; DNA replication [GO:0006260]; double-strand break repair via homologous recombination [GO:0000724]; error-free translesion synthesis [GO:0070987]; error-prone translesion synthesis [GO:0042276]; G1/S transition of mitotic cell cycle [GO:0000082]; interstrand cross-link repair [GO:0036297]; mismatch repair [GO:0006298]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; regulation of cell proliferation [GO:0042127]; regulation of cellular response to heat [GO:1900034]; regulation of mitotic cell cycle [GO:0007346]; telomere maintenance [GO:0000723]; telomere maintenance via semi-conservative replication [GO:0032201]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]


uniprotID: O75679
geneSymbol: RFPL3
name: Ret finger protein-like 3
length: 317
go: ENSG00000128276;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]; metal ion binding [GO:0046872]
snps: rs16987625 rs9621427 rs9619258 rs5749408
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75679-1; Sequence=Displayed; Name=2; IsoId=O75679-2; Sequence=VSP_045651; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25107902}. Nucleus {ECO:0000269|PubMed:25107902}. Note=A higher concentration of RFPL3 is observed in the cytoplasm compared to the nucleus. {ECO:0000269|PubMed:25107902}.


uniprotID: Q86YS3
geneSymbol: RAB11FIP4
name: Rab11 family-interacting protein 4 (FIP4-Rab11) (Rab11-FIP4) (Arfophilin-2)
length: 637
go: ENSG00000131242;
sequence:

opentargets:
cleavage furrow [GO:0032154]; endocytic vesicle [GO:0030139]; endosome [GO:0005768]; extracellular space [GO:0005615]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; perinuclear region of cytoplasm [GO:0048471]; recycling endosome membrane [GO:0055038]; spindle [GO:0005819]; ADP-ribosylation factor binding [GO:0030306]; calcium ion binding [GO:0005509]; protein homodimerization activity [GO:0042803]; Rab GTPase binding [GO:0017137]; endocytic recycling [GO:0032456]; neural retina development [GO:0003407]; positive regulation of G1 to G0 transition [GO:1903452]; regulation of cytokinesis [GO:0032465]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YS3-1; Sequence=Displayed; Name=2; IsoId=Q86YS3-2; Sequence=VSP_013724, VSP_013725; 

location:
SUBCELLULAR LOCATION: Endosome {ECO:0000269|PubMed:20682791}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:12857874}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:12857874}. Recycling endosome membrane {ECO:0000269|PubMed:15601896}; Peripheral membrane protein. Cleavage furrow {ECO:0000269|PubMed:15601896}. Midbody {ECO:0000269|PubMed:12857874, ECO:0000269|PubMed:15601896}. Cytoplasmic vesicle {ECO:0000269|PubMed:15601896}. Note=Recruited to the cleavage furrow and the midbody during cytokinesis. {ECO:0000269|PubMed:15601896}.


uniprotID: Q08116
geneSymbol: RGS1
reactome: R-HSA-418594;
pdb: 2BV1;2GTP;
length: 209
go: ENSG00000090104;
name:
Regulator of G-protein signaling 1 (RGS1) (B-cell activation protein BL34) (Early response protein 1R20)

sequence:

opentargets:
cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; plasma membrane [GO:0005886]; calmodulin binding [GO:0005516]; G-protein alpha-subunit binding [GO:0001965]; GTPase activator activity [GO:0005096]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; leukotriene signaling pathway [GO:0061737]; negative regulation of signal transduction [GO:0009968]; positive regulation of GTPase activity [GO:0043547]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; response to bacterium [GO:0009617]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08116-1; Sequence=Displayed; Name=2; IsoId=Q08116-2; Sequence=VSP_036422; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10480894}; Peripheral membrane protein {ECO:0000269|PubMed:10480894}; Cytoplasmic side {ECO:0000269|PubMed:10480894}. Cytoplasm, cytosol {ECO:0000269|PubMed:10480894}.


uniprotID: A6NKT7
geneSymbol: RGPD3
name: RanBP2-like and GRIP domain-containing protein 3
length: 1758
sequence:


uniprotID: Q3MIN7
geneSymbol: RGL3
name: Ral guanine nucleotide dissociation stimulator-like 3 (RalGDS-like 3)
length: 710
snps: rs167479 rs160838 rs2291516
sequence:

opentargets:
intracellular [GO:0005622]; Ral guanyl-nucleotide exchange factor activity [GO:0008321]; positive regulation of GTPase activity [GO:0043547]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3MIN7-1; Sequence=Displayed; Name=2; IsoId=Q3MIN7-2; Sequence=VSP_045369; Note=No experimental confirmation available.; 


uniprotID: Q8HWS3
geneSymbol: RFX6
reactome: R-HSA-210745;
name: DNA-binding protein RFX6 (Regulatory factor X 6) (Regulatory factor X domain-containing protein 1)
length: 928
go: ENSG00000185002;
snps: rs17853900 rs9489056 rs267607013 rs267607012 rs17857184 rs582803
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25497100}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region DNA binding [GO:0044212]; endocrine pancreas development [GO:0031018]; glucose homeostasis [GO:0042593]; pancreatic A cell differentiation [GO:0003310]; pancreatic D cell differentiation [GO:0003311]; pancreatic epsilon cell differentiation [GO:0090104]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of insulin secretion [GO:0050796]; regulation of transcription by RNA polymerase II [GO:0006357]; type B pancreatic cell differentiation [GO:0003309]


uniprotID: Q9UGC6
geneSymbol: RGS17
reactome: R-HSA-418597;
pdb: 1ZV4;
name: Regulator of G-protein signaling 17 (RGS17)
length: 210
go: ENSG00000091844;
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; membrane [GO:0016020]; neuron projection [GO:0043005]; nucleus [GO:0005634]; synapse [GO:0045202]; GTPase activator activity [GO:0005096]; negative regulation of signal transduction [GO:0009968]; response to amphetamine [GO:0001975]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9QZB0}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q9QZB0}. Nucleus {ECO:0000250|UniProtKB:Q9QZB0}. Cytoplasm {ECO:0000250|UniProtKB:Q9QZB0}.


uniprotID: Q9BWJ2
geneSymbol: RHPN1-AS1
sequence: MPAFFSLPAERRLQAWPQSEAPLSVSSCFQNRPPEPASFQNLRPEPASLQNLRTEPTSF
length: 59
name:
Putative uncharacterized protein encoded by RHPN1-AS1 (RHPN1 antisense RNA 1) (RHPN1 antisense gene protein 1)


uniprotID: O94955
geneSymbol: RHOBTB3
reactome: R-HSA-6811440;
name: Rho-related BTB domain-containing protein 3 (EC 3.6.1.-)
length: 611
go: ENSG00000164292;
snps: rs17855649 rs2302980 rs34899
location: SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:19490898}.
sequence:

opentargets:
cell cortex [GO:0005938]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein kinase binding [GO:0019901]; Rab GTPase binding [GO:0017137]; actin cytoskeleton organization [GO:0030036]; actin filament organization [GO:0007015]; establishment or maintenance of cell polarity [GO:0007163]; male gonad development [GO:0008584]; regulation of cell shape [GO:0008360]; retrograde transport, endosome to Golgi [GO:0042147]; Rho protein signal transduction [GO:0007266]


uniprotID: Q8N264
geneSymbol: ARHGAP24
reactome: R-HSA-194840;
length: 748
go: ENSG00000138639;
name:
Rho GTPase-activating protein 24 (Filamin-A-associated RhoGAP) (FilGAP) (RAC1- and CDC42-specific GTPase-activating protein of 72 kDa) (RC-GAP72) (Rho-type GTPase-activating protein 24) (RhoGAP of 73 kDa) (Sarcoma antigen NY-SAR-88) (p73RhoGAP)

sequence:

opentargets:
cell projection [GO:0042995]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; GTPase activator activity [GO:0005096]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N264-1; Sequence=Displayed; Name=2; IsoId=Q8N264-2; Sequence=VSP_023712, VSP_023715; Name=3; IsoId=Q8N264-3; Sequence=VSP_023711; Name=4; IsoId=Q8N264-4; Sequence=VSP_023717, VSP_023718; Note=No experimental confirmation available.; Name=5; IsoId=Q8N264-5; Sequence=VSP_023713, VSP_023714, VSP_023716; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell junction, focal adhesion. Cell projection. Note=Localizes to actin stress fibers. In migrating cells, localizes to membrane lamellae and protusions.


uniprotID: A8MT19
geneSymbol: RHPN2P1
name: Putative rhophilin-2-like protein RHPN2P1 (Rhophilin-2 pseudogene 1)
length: 583
sequence:


uniprotID: Q9NVZ3
geneSymbol: NECAP2
reactome: R-HSA-8856825;R-HSA-8856828;
name: Adaptin ear-binding coat-associated protein 2 (NECAP endocytosis-associated protein 2) (NECAP-2)
length: 263
go: ENSG00000157191;
snps: rs35056694
sequence:

opentargets:
clathrin vesicle coat [GO:0030125]; clathrin-coated pit [GO:0005905]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; endocytosis [GO:0006897]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NVZ3-1; Sequence=Displayed; Name=2; IsoId=Q9NVZ3-2; Sequence=VSP_013236; Name=3; IsoId=Q9NVZ3-3; Sequence=VSP_013234, VSP_013235; Note=No experimental confirmation available.; Name=4; IsoId=Q9NVZ3-4; Sequence=VSP_041726; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Colocalizes with AP-2 at the plasma membrane. {ECO:0000250}.


uniprotID: Q15270
geneSymbol: NKX1-1
length: 411
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
name:
NK1 transcription factor-related protein 1 (Homeobox protein 153) (HPX-153) (Homeobox protein SAX-2) (NKX-1.1)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; lipid metabolic process [GO:0006629]; nervous system process [GO:0050877]; regulation of generation of precursor metabolites and energy [GO:0043467]; regulation of glucose metabolic process [GO:0010906]


uniprotID: Q9UD57
geneSymbol: NKX1-2
name: NK1 transcription factor-related protein 2 (Homeobox protein SAX-1) (NKX-1.1)
length: 310
go: ENSG00000229544;
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]; multicellular organism development [GO:0007275]


uniprotID: Q12968
geneSymbol: NFATC3
reactome: R-HSA-2025928;R-HSA-2871809;R-HSA-5607763;
pdb: 2XRW;2XS0;
length: 1075
go: ENSG00000072736;
snps: rs2230092 rs3743736 rs2230093 rs2230094 rs2230095
name:
Nuclear factor of activated T-cells, cytoplasmic 3 (NF-ATc3) (NFATc3) (NFATx) (T-cell transcription factor NFAT4) (NF-AT4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; 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]; calcineurin-NFAT signaling cascade [GO:0033173]; cytokine production [GO:0001816]; Fc-epsilon receptor signaling pathway [GO:0038095]; inflammatory response [GO:0006954]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of vascular smooth muscle cell differentiation [GO:1905064]; 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; Synonyms=X1; IsoId=Q12968-1; Sequence=Displayed; Name=2; Synonyms=X2, C; IsoId=Q12968-2; Sequence=VSP_005600; Name=3; Synonyms=X3; IsoId=Q12968-3; Sequence=VSP_005601; Name=4; Synonyms=X4; IsoId=Q12968-4; Sequence=VSP_005602; Name=5; Synonyms=A; IsoId=Q12968-5; Sequence=VSP_005598; Name=6; Synonyms=B; IsoId=Q12968-6; Sequence=VSP_005599; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18815128}. Nucleus {ECO:0000269|PubMed:18815128}. Note=Cytoplasmic for the phosphorylated form and nuclear after activation that is controlled by calcineurin-mediated dephosphorylation. Rapid nuclear exit of NFATC is thought to be one mechanism by which cells distinguish between sustained and transient calcium signals. The subcellular localization of NFATC plays a key role in the regulation of gene transcription.


uniprotID: Q8IXH7
geneSymbol: NELFCD
pdb: 5L3X;6GML;
name: Negative elongation factor C/D (NELF-C/D) (TH1-like protein)
length: 590
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167200;R-HSA-167238;R-HSA-167242;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-674695;R-HSA-6796648;R-HSA-75955;

sequence:

opentargets:
membrane [GO:0016020]; NELF complex [GO:0032021]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; negative regulation of transcription, DNA-templated [GO:0045892]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=NELF-C; IsoId=Q8IXH7-1; Sequence=Displayed; Name=3; IsoId=Q8IXH7-3; Sequence=VSP_008950, VSP_008951; Note=No experimental confirmation available.; Name=NELF-D; IsoId=Q8IXH7-4; Sequence=VSP_018769; Note=Produced by alternative initiation at Met-10 of isoform NELF-C.; 


uniprotID: O94856
geneSymbol: NFASC
reactome: R-HSA-445095;R-HSA-447043;R-HSA-6798695;
pdb: 3P3Y;3P40;
name: Neurofascin
length: 1347
go: ENSG00000163531;
snps: rs3795564
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
axon initial segment [GO:0043194]; dendrite [GO:0030425]; ficolin-1-rich granule membrane [GO:0101003]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; myelin sheath [GO:0043209]; node of Ranvier [GO:0033268]; paranodal junction [GO:0033010]; paranode region of axon [GO:0033270]; plasma membrane [GO:0005886]; Schwann cell microvillus [GO:0097454]; protein binding involved in heterotypic cell-cell adhesion [GO:0086080]; protein domain specific binding [GO:0019904]; axon guidance [GO:0007411]; clustering of voltage-gated sodium channels [GO:0045162]; myelination [GO:0042552]; neutrophil degranulation [GO:0043312]; paranodal junction assembly [GO:0030913]; peripheral nervous system development [GO:0007422]; protein localization to juxtaparanode region of axon [GO:0071205]; protein localization to paranode region of axon [GO:0002175]; protein localization to plasma membrane [GO:0072659]; synapse organization [GO:0050808]; transmission of nerve impulse [GO:0019226]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Name=1; IsoId=O94856-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=O94856-2; Sequence=VSP_016426, VSP_008938; Note=May be due to intron retention.; Name=3; IsoId=O94856-3; Sequence=VSP_016424, VSP_016425, VSP_008937, VSP_008940; Note=No experimental confirmation available.; Name=4; IsoId=O94856-4; Sequence=VSP_016427, VSP_016428, VSP_008940; Note=No experimental confirmation available.; Name=5; IsoId=O94856-5; Sequence=VSP_008937, VSP_016429; Note=May be due to intron retention.; Name=6; IsoId=O94856-6; Sequence=VSP_016430, VSP_016434; Note=No experimental confirmation available.; Name=7; IsoId=O94856-7; Sequence=VSP_016433; Note=No experimental confirmation available.; Name=8; IsoId=O94856-8; Sequence=VSP_016424, VSP_016425, VSP_008937, VSP_016432; Note=No experimental confirmation available.; Name=9; IsoId=O94856-9; Sequence=VSP_016427, VSP_016428; Note=No experimental confirmation available.; Name=10; IsoId=O94856-10; Sequence=VSP_016424, VSP_008937, VSP_016432; Note=No experimental confirmation available.; Name=11; IsoId=O94856-11; Sequence=VSP_016424, VSP_016425, VSP_016432; Note=No experimental confirmation available.; Name=12; IsoId=O94856-12; Sequence=VSP_016427, VSP_016428, VSP_016432; Note=No experimental confirmation available.; Name=13; IsoId=O94856-13; Sequence=VSP_016431; Note=No experimental confirmation available.; 


uniprotID: O95644
geneSymbol: NFATC1
reactome: R-HSA-2025928;R-HSA-2871809;R-HSA-4086398;R-HSA-5607763;
pdb: 1A66;1NFA;5SVE;
length: 943
go: ENSG00000131196;
drug: DB00852;
snps: rs1051978 rs779866756 rs754093
name:
Nuclear factor of activated T-cells, cytoplasmic 1 (NF-ATc1) (NFATc1) (NFAT transcription complex cytosolic component) (NF-ATc) (NFATc)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nuclear chromatin [GO:0000790]; nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; FK506 binding [GO:0005528]; mitogen-activated protein kinase p38 binding [GO:0048273]; 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 transcription coactivator binding [GO:0001225]; RNA polymerase II transcription factor binding [GO:0001085]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; calcineurin-NFAT signaling cascade [GO:0033173]; cytokine production [GO:0001816]; Fc-epsilon receptor signaling pathway [GO:0038095]; intracellular signal transduction [GO:0035556]; negative regulation of vascular smooth muscle cell differentiation [GO:1905064]; negative regulation of Wnt signaling pathway [GO:0030178]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription by RNA polymerase II [GO:0006366]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=10;  Comment=Isoform C-alpha and isoform C-beta are the strongest activator of gene transcription, followed by isoform A-alpha and isoform A-beta, whereas isoform B-alpha and isoform B-beta are the weakest. Isoform B-alpha, isoform B-beta, isoform C-alpha and isoform C-beta, both present in T-cells, can modulate their transcriptional activity.; Name=C-alpha; IsoId=O95644-1; Sequence=Displayed; Name=A-alpha; Synonyms=IA-VIII; IsoId=O95644-2; Sequence=VSP_005591, VSP_005592; Name=A-beta; Synonyms=IB-VIII; IsoId=O95644-3; Sequence=VSP_005590, VSP_005591, VSP_005592; Name=B-alpha; Synonyms=IA-IXS; IsoId=O95644-4; Sequence=VSP_005593; Name=B-beta; Synonyms=IB-IXS; IsoId=O95644-5; Sequence=VSP_005590, VSP_005593; Name=C-beta; Synonyms=IB-IXL; IsoId=O95644-6; Sequence=VSP_005590; Name=A-alpha'; IsoId=O95644-8; Sequence=VSP_018978, VSP_005591, VSP_005592; Note=Produced by alternative initiation at Met-37 of isoform A-alpha. No experimental confirmation available.; Name=IA-deltaIX; IsoId=O95644-10; Sequence=VSP_047820; Name=IB-deltaIX; IsoId=O95644-11; Sequence=VSP_005590, VSP_047820; Name=10; IsoId=O95644-17; Sequence=VSP_053806, VSP_005593; Note=No experimental evidence available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16511445}. Nucleus {ECO:0000269|PubMed:16511445}. Note=Cytoplasmic for the phosphorylated form and nuclear after activation that is controlled by calcineurin-mediated dephosphorylation. Rapid nuclear exit of NFATC is thought to be one mechanism by which cells distinguish between sustained and transient calcium signals. The subcellular localization of NFATC plays a key role in the regulation of gene transcription (PubMed:16511445). Nuclear translocation of NFATC1 is enhanced in the presence of TNFSF11. Nuclear translocation is decreased in the presence of FBN1 which can bind and sequester TNFSF11 (By similarity). {ECO:0000250|UniProtKB:O88942, ECO:0000269|PubMed:16511445}.


uniprotID: Q7RTR2
geneSymbol: NLRC3
reactome: R-HSA-3270619;
length: 1065
go: ENSG00000167984;
snps: rs8057436
name:
NLR family CARD domain-containing protein 3 (CARD15-like protein) (Caterpiller protein 16.2) (CLR16.2) (NACHT, LRR and CARD domains-containing protein 3) (Nucleotide-binding oligomerization domain protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; phosphatidylinositol 3-kinase regulatory subunit binding [GO:0036312]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; intracellular signal transduction [GO:0035556]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of inflammatory response [GO:0050728]; negative regulation of innate immune response [GO:0045824]; negative regulation of interferon-alpha production [GO:0032687]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of NLRP3 inflammasome complex assembly [GO:1900226]; negative regulation of phosphatidylinositol 3-kinase signaling [GO:0014067]; negative regulation of tumor necrosis factor production [GO:0032720]; T cell activation [GO:0042110]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7RTR2-1; Sequence=Displayed; Name=2; IsoId=Q7RTR2-2; Sequence=VSP_027135; Name=3; IsoId=Q7RTR2-3; Sequence=VSP_027136, VSP_027137; Note=No experimental confirmation available.; Name=4; IsoId=Q7RTR2-4; Sequence=VSP_027138; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15705585, ECO:0000269|PubMed:24560620, ECO:0000269|PubMed:25277106}.


uniprotID: Q9NV92
geneSymbol: NDFIP2
length: 336
go: ENSG00000102471;
snps: rs55887763 rs11549502
name:
NEDD4 family-interacting protein 2 (NEDD4 WW domain-binding protein 5A) (Putative MAPK-activating protein PM04/PM05/PM06/PM07) (Putative NF-kappa-B-activating protein 413)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; multivesicular body membrane [GO:0032585]; perinuclear region of cytoplasm [GO:0048471]; WW domain binding [GO:0050699]; metal ion transport [GO:0030001]; negative regulation of gene expression [GO:0010629]; negative regulation of protein transport [GO:0051224]; negative regulation of transporter activity [GO:0032410]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of protein ubiquitination [GO:0031398]; vacuolar transport [GO:0007034]

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:18776082}; Multi-pass membrane protein {ECO:0000269|PubMed:18776082}. Golgi apparatus membrane {ECO:0000269|PubMed:12796489, ECO:0000269|PubMed:26363003}. Endosome, multivesicular body membrane {ECO:0000269|PubMed:26363003}.


uniprotID: Q9UQ49
geneSymbol: NEU3
reactome: R-HSA-1660662;R-HSA-4085001;
length: 428
go: ENSG00000162139;
snps: rs7115499
name:
Sialidase-3 (EC 3.2.1.18) (Ganglioside sialidase) (Membrane sialidase) (N-acetyl-alpha-neuraminidase 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; alpha-sialidase activity [GO:0016997]; exo-alpha-(2->3)-sialidase activity [GO:0052794]; exo-alpha-(2->6)-sialidase activity [GO:0052795]; exo-alpha-(2->8)-sialidase activity [GO:0052796]; exo-alpha-sialidase activity [GO:0004308]; carbohydrate metabolic process [GO:0005975]; ganglioside catabolic process [GO:0006689]; glycosphingolipid metabolic process [GO:0006687]; oligosaccharide catabolic process [GO:0009313]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UQ49-1; Sequence=Displayed; Name=2; IsoId=Q9UQ49-2; Sequence=VSP_054145; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10861246}; Peripheral membrane protein {ECO:0000269|PubMed:10861246}.


uniprotID: O95182
geneSymbol: NDUFA7
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 113
go: ENSG00000267855;
drug: DB00157;
snps: rs2288415
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 (Complex I-B14.5a) (CI-B14.5a) (NADH-ubiquinone oxidoreductase subunit B14.5a)

sequence:
MASATRLIQRLRNWASGHDLQGKLQLRYQEISKRTQPPPKLPVGPSHKLSNNYYCTRDGRRESVPPSIIMSSQKALVSGKPAESSAVAATEKKAVTPAPPIKRWELSSDQPYL

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrial ribosome [GO:0005761]; mitochondrion [GO:0005739]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; structural constituent of ribosome [GO:0003735]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; mitochondrial translation [GO:0032543]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Peripheral membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.


uniprotID: P0CG21
geneSymbol: NHLRC4
name: NHL-repeat-containing protein 4
length: 123
sequence:
MLGLEGPCWVGPGPDGGLAVSEEFGDVRLFGSARQPLGSLGGWTGHTFGCPAGICSNSEGNVIVADEQRRQVTLFPRAGPPICLVSEGLGQPLGVACAPQGQLLVADAKDNSIKVYQGLKELA


uniprotID: A6NJ46
geneSymbol: NKX6-3
name: Homeobox protein Nkx-6.3
length: 265
go: ENSG00000165066;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NJ46-1; Sequence=Displayed; Name=2; IsoId=A6NJ46-2; Sequence=VSP_029523; Note=No experimental confirmation available.; 


uniprotID: Q9NQR4
geneSymbol: NIT2
reactome: R-HSA-6798695;
name: Omega-amidase NIT2 (EC 3.5.1.3) (Nitrilase homolog 2)
length: 276
go: ENSG00000114021;
snps: rs17851799
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17488281}.
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; omega-amidase activity [GO:0050152]; asparagine metabolic process [GO:0006528]; glutamine metabolic process [GO:0006541]; neutrophil degranulation [GO:0043312]; oxaloacetate metabolic process [GO:0006107]


uniprotID: Q13952
geneSymbol: NFYC
reactome: R-HSA-1989781;R-HSA-2426168;R-HSA-380994;R-HSA-381183;
pdb: 1N1J;4AWL;4CSR;
length: 458
go: ENSG00000066136;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Nuclear transcription factor Y subunit gamma (CAAT box DNA-binding protein subunit C) (Nuclear transcription factor Y subunit C) (NF-YC) (Transactivator HSM-1/2)

sequence:

opentargets:
CCAAT-binding factor complex [GO:0016602]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein folding [GO:0006457]; regulation of cholesterol biosynthetic process [GO:0045540]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=3; Synonyms=DS2.8; IsoId=Q13952-1; Sequence=Displayed; Name=1; Synonyms=Gamma; IsoId=Q13952-2; Sequence=VSP_000851, VSP_000852; Name=2; IsoId=Q13952-3; Sequence=VSP_000851; Name=4; IsoId=Q13952-4; Sequence=VSP_043348, VSP_000851, VSP_000852; Note=No experimental confirmation available.; Name=5; IsoId=Q13952-5; Sequence=VSP_000852; Note=No experimental confirmation available.; Name=6; IsoId=Q13952-6; Sequence=VSP_043349, VSP_000851, VSP_000852; Note=No experimental confirmation available.; Name=7; IsoId=Q13952-7; Sequence=VSP_000851, VSP_046350, VSP_000852; Note=No experimental confirmation available.; 


uniprotID: P07196
geneSymbol: NEFL
reactome: R-HSA-438066;R-HSA-442729;R-HSA-442982;R-HSA-5673001;
length: 543
go: ENSG00000277586;
name:
Neurofilament light polypeptide (NF-L) (68 kDa neurofilament protein) (Neurofilament triplet L protein)

sequence:

opentargets:
axon [GO:0030424]; axon cytoplasm [GO:1904115]; cholinergic synapse [GO:0098981]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; growth cone [GO:0030426]; myelin sheath [GO:0043209]; neurofilament [GO:0005883]; neuromuscular junction [GO:0031594]; postsynaptic intermediate filament cytoskeleton [GO:0099160]; presynaptic intermediate filament cytoskeleton [GO:0099182]; Schaffer collateral - CA1 synapse [GO:0098685]; identical protein binding [GO:0042802]; phospholipase binding [GO:0043274]; protein binding, bridging [GO:0030674]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of postsynaptic intermediate filament cytoskeleton [GO:0099184]; anterograde axonal transport [GO:0008089]; axonal transport of mitochondrion [GO:0019896]; cerebral cortex development [GO:0021987]; hippocampus development [GO:0021766]; intermediate filament organization [GO:0045109]; intermediate filament polymerization or depolymerization [GO:0045105]; locomotion [GO:0040011]; MAPK cascade [GO:0000165]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of neuron apoptotic process [GO:0043524]; neurofilament bundle assembly [GO:0033693]; neurofilament cytoskeleton organization [GO:0060052]; neuromuscular process controlling balance [GO:0050885]; neuron projection morphogenesis [GO:0048812]; peripheral nervous system axon regeneration [GO:0014012]; positive regulation of axonogenesis [GO:0050772]; protein polymerization [GO:0051258]; regulation of axon diameter [GO:0031133]; response to acrylamide [GO:1903937]; response to corticosterone [GO:0051412]; response to peptide hormone [GO:0043434]; response to sodium arsenite [GO:1903935]; retrograde axonal transport [GO:0008090]; spinal cord development [GO:0021510]; synapse maturation [GO:0060074]

snps:
rs57848467 rs61491953 rs61491953 rs60261494 rs28928910 rs58332872 rs58982919 rs59443585 rs587777881 rs62636503 rs57153321 


uniprotID: Q8NC96
geneSymbol: NECAP1
reactome: R-HSA-432722;R-HSA-8856825;R-HSA-8856828;
name: Adaptin ear-binding coat-associated protein 1 (NECAP endocytosis-associated protein 1) (NECAP-1)
length: 275
go: ENSG00000089818;
snps: rs2231752
sequence:

opentargets:
clathrin vesicle coat [GO:0030125]; clathrin-coated pit [GO:0005905]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; endocytosis [GO:0006897]; membrane organization [GO:0061024]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NC96-1; Sequence=Displayed; Name=2; IsoId=Q8NC96-2; Sequence=VSP_013232, VSP_013233; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Colocalizes with AP-2 at the plasma membrane. {ECO:0000250}.


uniprotID: Q6ZWH5
geneSymbol: NEK10
length: 1172
go: ENSG00000163491;
snps: rs56125830 rs201821707 rs55958314 rs10510592 rs55833401 rs34313679
name:
Serine/threonine-protein kinase Nek10 (EC 2.7.11.1) (Never in mitosis A-related kinase 10) (NimA-related protein kinase 10)

sequence:

opentargets:
protein kinase complex [GO:1902911]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of protein autophosphorylation [GO:0031954]; protein phosphorylation [GO:0006468]; regulation of cell cycle G2/M phase transition [GO:1902749]; regulation of ERK1 and ERK2 cascade [GO:0070372]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q6ZWH5-1; Sequence=Displayed; Name=2; IsoId=Q6ZWH5-2; Sequence=VSP_021536, VSP_035692; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZWH5-3; Sequence=VSP_021534, VSP_021535; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZWH5-4; Sequence=VSP_035690, VSP_035691; Name=5; IsoId=Q6ZWH5-5; Sequence=VSP_035688, VSP_035689; Name=6; IsoId=Q6ZWH5-6; Sequence=VSP_035688, VSP_035689, VSP_035694; Name=7; IsoId=Q6ZWH5-7; Sequence=VSP_035688, VSP_035689, VSP_035693; 


uniprotID: Q9NPG2
geneSymbol: NGB
reactome: R-HSA-8981607;
pdb: 1OJ6;4MPM;
name: Neuroglobin
length: 151
go: ENSG00000165553;
location: SUBCELLULAR LOCATION: Perikaryon {ECO:0000250}. Cytoplasm. Mitochondrion.
sequence:
MERPEPELIRQSWRAVSRSPLEHGTVLFARLFALEPDLLPLFQYNCRQFSSPEDCLSSPEFLDHIRKVMLVIDAAVTNVEDLSSLEEYLASLGRKHRAVGVKLSSFSTVGESLLYMLEKCLGPAFTPATRAAWSQLYGAVVQAMSRGWDGE

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; perikaryon [GO:0043204]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; apoptotic process [GO:0006915]; oxygen transport [GO:0015671]


uniprotID: Q6NVV3
geneSymbol: NIPAL1
reactome: R-HSA-5223345;
length: 410
go: ENSG00000163293;
snps: rs13116684
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Magnesium transporter NIPA3 (NIPA-like protein 1) (Non-imprinted in Prader-Willi/Angelman syndrome region protein 3)

sequence:

opentargets:
integral component of membrane [GO:0016021]; magnesium ion transmembrane transporter activity [GO:0015095]; magnesium ion transport [GO:0015693]


uniprotID: Q00653
geneSymbol: NFKB2
pdb: 1A3Q;2D96;3DO7;4OT9;5ZMC;
length: 900
go: ENSG00000077150;
drug: DB00945;DB05487;DB01296;DB05212;DB05767;DB05464;DB05451;DB05471;
snps: rs45581936 rs45580031 rs11574848 rs45471103 rs727502787 rs727502788
reactome:
R-HSA-1810476;R-HSA-3134963;R-HSA-3214841;R-HSA-445989;R-HSA-448706;R-HSA-4755510;R-HSA-5603029;R-HSA-5607761;R-HSA-5676590;R-HSA-844456;R-HSA-933542;

name:
Nuclear factor NF-kappa-B p100 subunit (DNA-binding factor KBF2) (H2TF1) (Lymphocyte translocation chromosome 10 protein) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2) (Oncogene Lyt-10) (Lyt10) [Cleaved into: Nuclear factor NF-kappa-B p52 subunit]

sequence:

opentargets:
Bcl3/NF-kappaB2 complex [GO:0033257]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; 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]; transcription coactivator activity [GO:0003713]; aging [GO:0007568]; extracellular matrix organization [GO:0030198]; follicular dendritic cell differentiation [GO:0002268]; germinal center formation [GO:0002467]; NIK/NF-kappaB signaling [GO:0038061]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type I interferon production [GO:0032481]; regulation of transcription, DNA-templated [GO:0006355]; response to cytokine [GO:0034097]; response to lipopolysaccharide [GO:0032496]; rhythmic process [GO:0048511]; spleen development [GO:0048536]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=p100; IsoId=Q00653-1; Sequence=Displayed; Name=3; Synonyms=p49; IsoId=Q00653-3; Sequence=VSP_040082, VSP_040083; Note=Ref.1 (CAA43716.1) sequence(s) differ(s) from that shown due to frameshifts in positions 407, 414.; Name=4; IsoId=Q00653-4; Sequence=VSP_040084; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B).


uniprotID: Q8NBF2
geneSymbol: NHLRC2
reactome: R-HSA-114608;
pdb: 6G7W;6GC1;
name: NHL repeat-containing protein 2
length: 726
go: ENSG00000196865;
snps: rs7913176
sequence:

opentargets:
extracellular region [GO:0005576]; platelet alpha granule lumen [GO:0031093]; cell redox homeostasis [GO:0045454]; platelet degranulation [GO:0002576]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBF2-1; Sequence=Displayed; Name=2; IsoId=Q8NBF2-2; Sequence=VSP_030153; Note=No experimental confirmation available.; 


uniprotID: P46934
geneSymbol: NEDD4
reactome: R-HSA-1169408;R-HSA-1253288;R-HSA-8948747;R-HSA-8948751;R-HSA-983168;
pdb: 2KPZ;2KQ0;2M3O;2XBB;2XBF;3B7Y;4BBN;4BE8;4N7F;4N7H;5AHT;5C7J;5C91;
length: 1319
go: ENSG00000069869;
snps: rs1912403 rs2303580 rs2303579
name:
E3 ubiquitin-protein ligase NEDD4 (EC 2.3.2.26) (Cell proliferation-inducing gene 53 protein) (HECT-type E3 ubiquitin transferase NEDD4) (Neural precursor cell expressed developmentally down-regulated protein 4) (NEDD-4)

sequence:

opentargets:
apicolateral plasma membrane [GO:0016327]; cell cortex [GO:0005938]; chromatin [GO:0000785]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic cytosol [GO:0099524]; ubiquitin ligase complex [GO:0000151]; beta-2 adrenergic receptor binding [GO:0031698]; ionotropic glutamate receptor binding [GO:0035255]; phosphoserine residue binding [GO:0050815]; phosphothreonine residue binding [GO:0050816]; proline-rich region binding [GO:0070064]; protein domain specific binding [GO:0019904]; RNA polymerase binding [GO:0070063]; sodium channel inhibitor activity [GO:0019871]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase activity [GO:0061630]; adaptive immune response [GO:0002250]; blood vessel morphogenesis [GO:0048514]; cellular response to UV [GO:0034644]; development involved in symbiotic interaction [GO:0044111]; endocardial cushion development [GO:0003197]; glucocorticoid receptor signaling pathway [GO:0042921]; lysosomal transport [GO:0007041]; negative regulation of sodium ion transmembrane transporter activity [GO:2000650]; negative regulation of sodium ion transport [GO:0010766]; negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage [GO:0010768]; negative regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030948]; neuromuscular junction development [GO:0007528]; neuron projection development [GO:0031175]; outflow tract morphogenesis [GO:0003151]; positive regulation of nucleocytoplasmic transport [GO:0046824]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein catabolic process [GO:0045732]; progesterone receptor signaling pathway [GO:0050847]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein K63-linked ubiquitination [GO:0070534]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]; protein targeting to lysosome [GO:0006622]; protein ubiquitination [GO:0016567]; receptor catabolic process [GO:0032801]; receptor internalization [GO:0031623]; regulation of dendrite morphogenesis [GO:0048814]; regulation of ion transmembrane transport [GO:0034765]; regulation of macroautophagy [GO:0016241]; regulation of membrane potential [GO:0042391]; regulation of potassium ion transmembrane transporter activity [GO:1901016]; regulation of synapse organization [GO:0050807]; response to calcium ion [GO:0051592]; T cell activation [GO:0042110]; transmission of virus [GO:0019089]; ubiquitin-dependent protein catabolic process [GO:0006511]; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway [GO:0043162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P46934-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=P46934-2; Sequence=VSP_038259; Note=No experimental confirmation available.; Name=3; IsoId=P46934-3; Sequence=VSP_038258; Note=No experimental confirmation available.; Name=4; IsoId=P46934-4; Sequence=VSP_038256, VSP_038257; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Recruited to the plasma membrane by GRB10. Once complexed with GRB10 and IGF1R, follows IGF1R internalization, remaining associated with early endosomes. Uncouples from IGF1R-containing endosomes before the sorting of the receptor to the lysosomal compartment (By similarity). May be recruited to exosomes by NDFIP1. {ECO:0000250, ECO:0000269|PubMed:18819914}.


uniprotID: O75414
geneSymbol: NME6
length: 186
go: ENSG00000172113;
name:
Nucleoside diphosphate kinase 6 (NDK 6) (NDP kinase 6) (EC 2.7.4.6) (Inhibitor of p53-induced apoptosis-alpha) (IPIA-alpha) (nm23-H6)

sequence:
MASILRSPQALQLTLALIKPDAVAHPLILEAVHQQILSNKFLIVRMRELLWRKEDCQRFYREHEGRFFYQRLVEFMASGPIRAYILAHKDAIQLWRTLMGPTRVFRARHVAPDSIRGSFGLTDTRNTTHGSDSVVSASREIAAFFPDFSEQRWYEEEEPQLRCGPVCYSPEGGVHYVAGTGGLGPA

opentargets:
mitochondrion [GO:0005739]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; nucleoside diphosphate kinase activity [GO:0004550]; apoptotic process [GO:0006915]; CTP biosynthetic process [GO:0006241]; GTP biosynthetic process [GO:0006183]; negative regulation of cell growth [GO:0030308]; negative regulation of mitotic nuclear division [GO:0045839]; UTP biosynthetic process [GO:0006228]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75414-1; Sequence=Displayed; Name=2; IsoId=O75414-2; Sequence=VSP_036882; Name=3; IsoId=O75414-3; Sequence=VSP_036883; 


uniprotID: P28331
geneSymbol: NDUFS1
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 727
go: ENSG00000023228;
drug: DB00157;
snps: rs17856901 rs199422225 rs199422224 rs786205666 rs1044049
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I-75kD) (CI-75kD)

sequence:

opentargets:
mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; plasma membrane respiratory chain complex I [GO:0045272]; 2 iron, 2 sulfur cluster binding [GO:0051537]; 4 iron, 4 sulfur cluster binding [GO:0051539]; electron transfer activity [GO:0009055]; metal ion binding [GO:0046872]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; apoptotic mitochondrial changes [GO:0008637]; ATP metabolic process [GO:0046034]; cellular respiration [GO:0045333]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; reactive oxygen species metabolic process [GO:0072593]; regulation of mitochondrial membrane potential [GO:0051881]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P28331-1; Sequence=Displayed; Name=2; IsoId=P28331-2; Sequence=VSP_042682; Note=No experimental confirmation available.; Name=3; IsoId=P28331-3; Sequence=VSP_043728, VSP_043729; Note=No experimental confirmation available.; Name=4; IsoId=P28331-4; Sequence=VSP_043727; Note=No experimental confirmation available.; Name=5; IsoId=P28331-5; Sequence=VSP_045864; Note=No experimental confirmation available.; 


uniprotID: Q92692
geneSymbol: NECTIN2
reactome: R-HSA-198933;R-HSA-418990;R-HSA-420597;
pdb: 3R0N;4DFH;4DFI;4HZA;5V52;
length: 538
go: ENSG00000130202;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Nectin-2 (Herpes virus entry mediator B) (Herpesvirus entry mediator B) (HveB) (Nectin cell adhesion molecule 2) (Poliovirus receptor-related protein 2) (CD antigen CD112)

sequence:

opentargets:
cell surface [GO:0009986]; cell-cell contact zone [GO:0044291]; cell-cell junction [GO:0005911]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; zonula adherens [GO:0005915]; cell adhesion molecule binding [GO:0050839]; coreceptor activity [GO:0015026]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; virus receptor activity [GO:0001618]; acrosome assembly [GO:0001675]; adherens junction organization [GO:0034332]; adhesion of symbiont to host [GO:0044406]; cell part morphogenesis [GO:0032990]; cilium organization [GO:0044782]; coreceptor-mediated virion attachment to host cell [GO:0046814]; cytoskeleton organization [GO:0007010]; establishment of mitochondrion localization [GO:0051654]; fertilization [GO:0009566]; fusion of virus membrane with host plasma membrane [GO:0019064]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; positive regulation of immunoglobulin mediated immune response [GO:0002891]; positive regulation of mast cell activation [GO:0033005]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002860]; positive regulation of T cell receptor signaling pathway [GO:0050862]; regulation of immune response [GO:0050776]; regulation of viral entry into host cell [GO:0046596]; sperm mitochondrion organization [GO:0030382]; spermatid development [GO:0007286]; spermatid nucleus differentiation [GO:0007289]; susceptibility to natural killer cell mediated cytotoxicity [GO:0042271]; susceptibility to T cell mediated cytotoxicity [GO:0060370]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Delta; IsoId=Q92692-1; Sequence=Displayed; Name=Alpha; IsoId=Q92692-2; Sequence=VSP_002628, VSP_002629; 


uniprotID: Q96NY8
geneSymbol: NECTIN4
reactome: R-HSA-418990;R-HSA-420597;
pdb: 4FRW;4GJT;4JJH;
length: 510
go: ENSG00000143217;
snps: rs3737786 rs267606992
name:
Nectin-4 (Ig superfamily receptor LNIR) (Nectin cell adhesion molecule 4) (Poliovirus receptor-related protein 4) [Cleaved into: Processed poliovirus receptor-related protein 4]

sequence:

opentargets:
apical junction complex [GO:0043296]; cell-cell adherens junction [GO:0005913]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; signaling receptor activity [GO:0038023]; virus receptor activity [GO:0001618]; adherens junction organization [GO:0034332]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96NY8-1; Sequence=Displayed; Name=2; IsoId=Q96NY8-2; Sequence=VSP_056819, VSP_056820; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, adherens junction {ECO:0000269|PubMed:11544254}. Note=Colocalizes with AFDN at cadherin-based adherens junctions (PubMed:11544254).; SUBCELLULAR LOCATION: Processed poliovirus receptor-related protein 4: Secreted {ECO:0000269|PubMed:15784625}. Note=The secreted form is found in breast tumor patients (PubMed:15784625).


uniprotID: Q71RS6
geneSymbol: SLC24A5
reactome: R-HSA-425561;R-HSA-5619036;
length: 500
go: ENSG00000188467;
snps: rs1426654
name:
Sodium/potassium/calcium exchanger 5 (Na(+)/K(+)/Ca(2+)-exchange protein 5) (Solute carrier family 24 member 5)

sequence:

opentargets:
integral component of membrane [GO:0016021]; melanosome [GO:0042470]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; calcium channel activity [GO:0005262]; calcium, potassium:sodium antiporter activity [GO:0008273]; symporter activity [GO:0015293]; calcium ion transmembrane transport [GO:0070588]; cellular calcium ion homeostasis [GO:0006874]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; negative regulation of melanin biosynthetic process [GO:0048022]; response to stimulus [GO:0050896]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q71RS6-1; Sequence=Displayed; Name=2; IsoId=Q71RS6-2; Sequence=VSP_047596; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:18166528}; Multi-pass membrane protein {ECO:0000269|PubMed:18166528}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Enriched in late-stage melanosomes (PubMed:17081065).


uniprotID: Q8WTR8
geneSymbol: NTN5
name: Netrin-5 (Netrin-1-like protein)
length: 489
go: ENSG00000142233;
opentargets: extracellular region [GO:0005576]; neurogenesis [GO:0022008]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000255}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WTR8-1; Sequence=Displayed; Name=2; IsoId=Q8WTR8-2; Sequence=VSP_031667, VSP_031668; 


uniprotID: Q9NZG7
geneSymbol: NINJ2
name: Ninjurin-2 (Nerve injury-induced protein 2)
length: 142
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:
MESARENIDLQPGSSDPRSQPINLNHYATKKSVAESMLDVALFMSNAMRLKAVLEQGPSSHYYTTLVTLISLSLLLQVVIGVLLVVIARLNLNEVEKQWRLNQLNNAATILVFFTVVINVFITAFGAHKTGFLAARASRNPL

opentargets:
integral component of plasma membrane [GO:0005887]; nervous system development [GO:0007399]; neuron cell-cell adhesion [GO:0007158]; tissue regeneration [GO:0042246]


uniprotID: O95298
geneSymbol: NDUFC2
reactome: R-HSA-611105;R-HSA-6798695;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 119
go: ENSG00000151366;
drug: DB01136;DB00157;
snps: rs8875
name:
NADH dehydrogenase [ubiquinone] 1 subunit C2 (Complex I-B14.5b) (CI-B14.5b) (Human lung cancer oncogene 1 protein) (HLC-1) (NADH-ubiquinone oxidoreductase subunit B14.5b)

sequence:
MIARRNPEPLRFLPDEARSLPPPKLTDPRLLYIGFLGYCSGLIDNLIRRRPIATAGLHRQLLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPEEDKKTYGEIFEKFHPIR

opentargets:
azurophil granule membrane [GO:0035577]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; IsoId=O95298-1; Sequence=Displayed; Name=4; IsoId=O95298-2; Sequence=VSP_047317; Note=Gene prediction based on EST data.; Name=5; IsoId=O95298-3; Sequence=VSP_047318; Note=Gene prediction based on EST data.; Name=2; Synonyms=NDUFC2-KCTD14; IsoId=E9PQ53-1; Sequence=External; Note=Based on a readthrough transcript which may produce a NDUFC2-KCTD14 fusion protein. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Single-pass membrane protein {ECO:0000255}; Matrix side {ECO:0000305}.


uniprotID: Q96PY6
geneSymbol: NEK1
pdb: 4APC;4B9D;
length: 1258
go: ENSG00000137601;
name:
Serine/threonine-protein kinase Nek1 (EC 2.7.11.1) (Never in mitosis A-related kinase 1) (NimA-related protein kinase 1) (Renal carcinoma antigen NY-REN-55)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; pericentriolar material [GO:0000242]; 14-3-3 protein binding [GO:0071889]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein tyrosine kinase activity [GO:0004713]; activation of protein kinase activity [GO:0032147]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to DNA damage stimulus [GO:0006974]; cilium assembly [GO:0060271]; DNA damage response, detection of DNA damage [GO:0042769]; protein phosphorylation [GO:0006468]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

snps:
rs34214559 rs35093214 rs431905508 rs35763578 rs34540355 rs33933790 rs34324114 rs34099167 rs6828134 rs35503975 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96PY6-1; Sequence=Displayed; Name=2; IsoId=Q96PY6-2; Sequence=VSP_004870; Note=No experimental confirmation available.; Name=3; IsoId=Q96PY6-3; Sequence=VSP_035439; Note=No experimental confirmation available.; Name=4; IsoId=Q96PY6-4; Sequence=VSP_035435, VSP_035436; Note=No experimental confirmation available.; Name=5; IsoId=Q96PY6-5; Sequence=VSP_035437, VSP_035438; Note=No experimental confirmation available.; Name=6; IsoId=Q96PY6-6; Sequence=VSP_035436, VSP_035439; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15604234, ECO:0000305|PubMed:21211617}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:P51954}. Cytoplasm {ECO:0000269|PubMed:18843199}. Note=Associated with the pericentriolar material (PubMed:21211617). Localizes to centrosome during interphase and mitosis (By similarity). Translocated from cytoplasm to discrete nuclear foci at sites of DNA damage (PubMed:15604234). {ECO:0000250|UniProtKB:P51954, ECO:0000269|PubMed:15604234, ECO:0000269|PubMed:21211617}.


uniprotID: Q9BW91
geneSymbol: NUDT9
reactome: R-HSA-2393930;
pdb: 1Q33;1QVJ;
length: 350
go: ENSG00000170502;
drug: DB02379;
location: SUBCELLULAR LOCATION: Isoform 1: Mitochondrion.
name:
ADP-ribose pyrophosphatase, mitochondrial (EC 3.6.1.13) (ADP-ribose diphosphatase) (ADP-ribose phosphohydrolase) (Adenosine diphosphoribose pyrophosphatase) (ADPR-PPase) (Nucleoside diphosphate-linked moiety X motif 9) (Nudix motif 9)

sequence:

opentargets:
extracellular exosome [GO:0070062]; intracellular [GO:0005622]; mitochondrial matrix [GO:0005759]; adenosine-diphosphatase activity [GO:0043262]; ADP-ribose diphosphatase activity [GO:0047631]; ADP-sugar diphosphatase activity [GO:0019144]; ADP catabolic process [GO:0046032]; IDP catabolic process [GO:0046709]; nucleobase-containing small molecule catabolic process [GO:0034656]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=NUDT9a; IsoId=Q9BW91-1; Sequence=Displayed; Name=2; Synonyms=NUDT9b; IsoId=Q9BW91-2; Sequence=VSP_010552; 


uniprotID: Q96DL1
geneSymbol: NXPE2
name: NXPE family member 2 (Protein FAM55B)
length: 559
go: ENSG00000204361;
opentargets: integral component of membrane [GO:0016021]
snps: rs11215158
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=Q96DL1-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data and similarity to mouse ortholog.; Name=2; IsoId=Q96DL1-3; Sequence=VSP_040454, VSP_040455; 


uniprotID: Q9H207
geneSymbol: OR10A5
reactome: R-HSA-381753;
length: 317
go: ENSG00000166363;
snps: rs7949377
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 10A5 (HP3) (Olfactory receptor 10A1) (Olfactory receptor 11-403) (OR11-403) (Olfactory receptor-like protein JCG6)

sequence:


uniprotID: Q8N6M0
geneSymbol: OTUD6B
name: Deubiquitinase OTUD6B (EC 3.4.19.12) (DUBA-5) (OTU domain-containing protein 6B)
length: 293
go: ENSG00000155100;
snps: rs368313959 rs1064797103 rs3210518
sequence:

opentargets:
thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; cell proliferation [GO:0008283]; negative regulation of translation [GO:0017148]; positive regulation of translation [GO:0045727]; proteasome assembly [GO:0043248]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=OTUD6B-1 {ECO:0000303|PubMed:27864334}; IsoId=Q8N6M0-1; Sequence=Displayed; Name=2; Synonyms=OTUD6B-2 {ECO:0000303|PubMed:27864334}; IsoId=Q8N6M0-2; Sequence=VSP_055378; 


uniprotID: Q7RTS6
geneSymbol: OTOP2
name: Proton channel OTOP2 (Otopetrin-2)
length: 562
go: ENSG00000183034;
snps: rs148548570 rs6501741
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; proton channel activity [GO:0015252]; proton transmembrane transport [GO:1902600]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80VM9}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9NPF4
geneSymbol: OSGEP
reactome: R-HSA-6782315;
length: 335
go: ENSG00000092094;
name:
Probable tRNA N6-adenosine threonylcarbamoyltransferase (EC 2.3.1.234) (N6-L-threonylcarbamoyladenine synthase) (t(6)A synthase) (O-sialoglycoprotein endopeptidase) (hOSGEP) (t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEP) (tRNA threonylcarbamoyladenosine biosynthesis protein OSGEP)

sequence:

opentargets:
cytoplasm [GO:0005737]; EKC/KEOPS complex [GO:0000408]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; N(6)-L-threonylcarbamoyladenine synthase activity [GO:0061711]; tRNA threonylcarbamoyladenosine modification [GO:0002949]

snps:
rs200347983 rs140583554 rs140076803 rs778931753 rs773173317 rs374322839 rs144732839 rs753237335 rs761839638 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03180, ECO:0000269|PubMed:28805828}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03180, ECO:0000269|PubMed:22912744, ECO:0000269|PubMed:28805828}.


uniprotID: Q9UJX0
geneSymbol: OSGIN1
length: 560
go: ENSG00000140961;
snps: rs4782865 rs28555129 rs2244899 rs2244898 rs35145453
name:
Oxidative stress-induced growth inhibitor 1 (Ovary, kidney and liver protein 38) (huOKL38) (Pregnancy-induced growth inhibitor OKL38)

sequence:

opentargets:
growth factor activity [GO:0008083]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; negative regulation of cell growth [GO:0030308]; positive regulation of apoptotic process [GO:0043065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=2b; IsoId=Q9UJX0-1; Sequence=Displayed; Name=1; Synonyms=1a, 2a; IsoId=Q9UJX0-2; Sequence=VSP_010500; Name=3; Synonyms=2c; IsoId=Q9UJX0-3; Sequence=Not described; 


uniprotID: Q12889
geneSymbol: OVGP1
reactome: R-HSA-1300644;
length: 678
go: ENSG00000085465;
snps: rs17027633 rs2485319 rs3767607 rs1126656 rs12096782 rs3767609 rs10067 rs7825
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle. Note=Secretory granules.
name:
Oviduct-specific glycoprotein (Estrogen-dependent oviduct protein) (Mucin-9) (Oviductal glycoprotein) (Oviductin)

sequence:

opentargets:
cytosol [GO:0005829]; egg coat [GO:0035805]; extracellular region [GO:0005576]; perivitelline space [GO:0098595]; transport vesicle [GO:0030133]; chitin binding [GO:0008061]; chitinase activity [GO:0004568]; binding of sperm to zona pellucida [GO:0007339]; carbohydrate metabolic process [GO:0005975]; chitin catabolic process [GO:0006032]; female pregnancy [GO:0007565]; negative regulation of binding of sperm to zona pellucida [GO:2000360]


uniprotID: Q9BRP0
geneSymbol: OVOL2
name: Transcription factor Ovo-like 2 (hOvo2) (Zinc finger protein 339)
length: 275
go: ENSG00000125850;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8CIV7}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; 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]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; angiogenesis [GO:0001525]; cellular response to transforming growth factor beta stimulus [GO:0071560]; dorsal/ventral pattern formation [GO:0009953]; embryonic digestive tract morphogenesis [GO:0048557]; endocardium formation [GO:0060214]; epidermal cell differentiation [GO:0009913]; heart looping [GO:0001947]; heart trabecula formation [GO:0060347]; labyrinthine layer blood vessel development [GO:0060716]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of gene expression [GO:0010629]; negative regulation of keratinocyte differentiation [GO:0045617]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of stem cell proliferation [GO:2000647]; negative regulation of transcription by competitive promoter binding [GO:0010944]; negative regulation of transcription, DNA-templated [GO:0045892]; neural crest cell migration [GO:0001755]; neural fold formation [GO:0001842]; positive regulation of gene expression [GO:0010628]; positive regulation of keratinocyte differentiation [GO:0045618]; regulation of cell cycle [GO:0051726]; regulation of keratinocyte proliferation [GO:0010837]; regulation of SMAD protein signal transduction [GO:0060390]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRP0-1; Sequence=Displayed; Name=2; IsoId=Q9BRP0-2; Sequence=VSP_038260; Note=No experimental confirmation available.; 


uniprotID: Q5T2D3
geneSymbol: OTUD3
reactome: R-HSA-5689896;R-HSA-8948751;
pdb: 4BOU;
name: OTU domain-containing protein 3 (EC 3.4.19.12)
length: 398
go: ENSG00000169914;
snps: rs2298110 rs10916668
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; negative regulation of protein kinase B signaling [GO:0051898]; protein deubiquitination [GO:0016579]; protein K11-linked deubiquitination [GO:0035871]; protein K27-linked deubiquitination [GO:1990167]; protein K48-linked deubiquitination [GO:0071108]; protein K6-linked deubiquitination [GO:0044313]; protein stabilization [GO:0050821]


uniprotID: Q9BZF1
geneSymbol: OSBPL8
reactome: R-HSA-1482801;
pdb: 1V88;5U77;5U78;
name: Oxysterol-binding protein-related protein 8 (ORP-8) (OSBP-related protein 8)
length: 889
go: ENSG00000091039;
sequence:

opentargets:
cortical endoplasmic reticulum [GO:0032541]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; cholesterol binding [GO:0015485]; lipid binding [GO:0008289]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylserine binding [GO:0001786]; phospholipid transporter activity [GO:0005548]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; activation of protein kinase B activity [GO:0032148]; fat cell differentiation [GO:0045444]; negative regulation of cell migration [GO:0030336]; negative regulation of sequestering of triglyceride [GO:0010891]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid transport [GO:0015914]; positive regulation of glucose import [GO:0046326]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of protein kinase B signaling [GO:0051897]; protein localization to nuclear pore [GO:0090204]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=ORP8L {ECO:0000303|PubMed:26206935}; IsoId=Q9BZF1-1; Sequence=Displayed; Name=2; IsoId=Q9BZF1-2; Sequence=VSP_009120; Note=No experimental confirmation available.; Name=3; Synonyms=ORP8S {ECO:0000303|PubMed:26206935}; IsoId=Q9BZF1-3; Sequence=VSP_045801; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane {ECO:0000269|PubMed:17991739, ECO:0000269|PubMed:26206935}; Single-pass membrane protein {ECO:0000269|PubMed:17991739}. Nucleus membrane {ECO:0000269|PubMed:21698267}. Note=The presence of the N-terminus extension contains an overall negative charge that may explain the weak localization to the cortical endoplasmic reticulum (Probable). {ECO:0000305|PubMed:26206935}.; SUBCELLULAR LOCATION: Isoform 3: Endoplasmic reticulum membrane {ECO:0000269|PubMed:26206935}; Single-pass membrane protein. Note=Localizes to the cortical endoplasmic reticulum at the endoplasmic reticulum-plasma membrane contact sites. {ECO:0000269|PubMed:26206935}.


uniprotID: Q96A73
geneSymbol: KIAA1191
length: 305
go: ENSG00000122203;
opentargets: cytoplasm [GO:0005737]; oxidoreductase activity [GO:0016491]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Putative monooxygenase p33MONOX (EC 1.-.-.-) (Brain-derived rescue factor p60MONOX) (Flavin monooxygenase motif-containing protein of 33 kDa)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96A73-1; Sequence=Displayed; Name=2; IsoId=Q96A73-2; Sequence=VSP_028801; Name=3; IsoId=Q96A73-3; Sequence=VSP_028800; 


uniprotID: O00750
geneSymbol: PIK3C2B
reactome: R-HSA-1660499;
length: 1634
go: ENSG00000133056;
name:
Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta (PI3K-C2-beta) (PtdIns-3-kinase C2 subunit beta) (EC 2.7.1.154) (C2-PI3K) (Phosphoinositide 3-kinase-C2-beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; phosphatidylinositol 3-kinase complex [GO:0005942]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 1-phosphatidylinositol-4-phosphate 3-kinase activity [GO:0035005]; ATP binding [GO:0005524]; lipid kinase activity [GO:0001727]; phosphatidylinositol binding [GO:0035091]; autophagosome organization [GO:1905037]; cell migration [GO:0016477]; cellular response to starvation [GO:0009267]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol phosphorylation [GO:0046854]; phosphatidylinositol-3-phosphate biosynthetic process [GO:0036092]; phosphatidylinositol-mediated signaling [GO:0048015]; protein kinase B signaling [GO:0043491]

location:
SUBCELLULAR LOCATION: Microsome {ECO:0000269|PubMed:14563213}. Cell membrane {ECO:0000269|PubMed:14563213}. Cytoplasm, cytosol {ECO:0000269|PubMed:14563213}. Nucleus {ECO:0000269|PubMed:14563213}. Endoplasmic reticulum {ECO:0000269|PubMed:14563213}. Note=Found mostly in the microsome, but also in the plasma membrane and cytosol. Nuclear in testis.


uniprotID: Q8IVL6
geneSymbol: P3H3
reactome: R-HSA-1650814;
name: Prolyl 3-hydroxylase 3 (EC 1.14.11.7) (Leprecan-like protein 2) (Protein B)
length: 736
go: ENSG00000110811;
drug: DB00172;DB00139;DB00126;
snps: rs10744716 rs35359746 rs1047771 rs1129649 rs3213431
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000255|PROSITE-ProRule:PRU10138}.
sequence:

opentargets:
catalytic complex [GO:1902494]; endoplasmic reticulum [GO:0005783]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; procollagen-proline 3-dioxygenase activity [GO:0019797]; collagen biosynthetic process [GO:0032964]; collagen metabolic process [GO:0032963]; negative regulation of cell proliferation [GO:0008285]; peptidyl-lysine hydroxylation [GO:0017185]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IVL6-1; Sequence=Displayed; Name=2; IsoId=Q8IVL6-2; Sequence=VSP_019352; Note=No experimental confirmation available.; 


uniprotID: Q9UQ80
geneSymbol: PA2G4
reactome: R-HSA-6798695;
pdb: 2Q8K;3J2I;
length: 394
go: ENSG00000170515;
name:
Proliferation-associated protein 2G4 (Cell cycle protein p38-2G4 homolog) (hG4-1) (ErbB3-binding protein 1)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; cell cycle arrest [GO:0007050]; cell proliferation [GO:0008283]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transcription, DNA-templated [GO:0045892]; neutrophil degranulation [GO:0043312]; positive regulation of cell differentiation [GO:0045597]; regulation of translation [GO:0006417]; ribosomal large subunit export from nucleus [GO:0000055]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000305}; Synonyms=p48 {ECO:0000303|PubMed:16832058}; IsoId=Q9UQ80-1; Sequence=Displayed; Name=2 {ECO:0000305}; Synonyms=p42 {ECO:0000303|PubMed:16832058}; IsoId=Q9UQ80-2; Sequence=VSP_057325; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:16832058, ECO:0000269|PubMed:19037095}. Nucleus, nucleolus {ECO:0000269|PubMed:16832058, ECO:0000269|PubMed:19037095}. Note=Translocates to the nucleus upon treatment with HRG. Phosphorylation at Ser-361 by PKC/PRKCD regulates its nucleolar localization. {ECO:0000269|PubMed:16832058}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:16832058, ECO:0000269|PubMed:19037095}.


uniprotID: Q6TGC4
geneSymbol: PADI6
reactome: R-HSA-3247509;
pdb: 4DAT;4DAU;
length: 694
go: ENSG00000276747;
drug: DB00155;
snps: rs775156958 rs1057517684
name:
Protein-arginine deiminase type-6 (EC 3.5.3.15) (Peptidyl arginine deiminase-like protein) (Peptidylarginine deiminase VI) (hPADVI) (Protein-arginine deiminase type VI)

sequence:

opentargets:
cytoplasm [GO:0005737]; intermediate filament cytoskeleton [GO:0045111]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; protein-arginine deiminase activity [GO:0004668]; cytoplasm organization [GO:0007028]; cytoskeleton organization [GO:0007010]; histone citrullination [GO:0036414]; regulation of translation by machinery localization [GO:0043143]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27545678}. Nucleus {ECO:0000250|UniProtKB:Q8K3V4}.


uniprotID: I0J062
geneSymbol: PANO1
name: Proapoptotic nucleolar protein 1
length: 215
go: ENSG00000274897;
sequence:

opentargets:
nucleolus [GO:0005730]; apoptotic process [GO:0006915]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; positive regulation of apoptotic process [GO:0043065]; regulation of protein stability [GO:0031647]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:22094112}. Note=Colocalizes with CDKN2A/p14ARF in the nucleolus. {ECO:0000269|PubMed:22094112}.


uniprotID: O95340
geneSymbol: PAPSS2
reactome: R-HSA-174362;R-HSA-2408550;R-HSA-3560796;
pdb: 2AX4;
length: 614
go: ENSG00000198682;
snps: rs17173698 rs121908951 rs774709274 rs138943074 rs45624631 rs45467596 rs17129133
name:
Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPS synthase 2) (PAPSS 2) (Sulfurylase kinase 2) (SK 2) (SK2) [Includes: Sulfate adenylyltransferase (EC 2.7.7.4) (ATP-sulfurylase) (Sulfate adenylate transferase) (SAT); Adenylyl-sulfate kinase (EC 2.7.1.25) (3'-phosphoadenosine-5'-phosphosulfate synthase) (APS kinase) (Adenosine-5'-phosphosulfate 3'-phosphotransferase) (Adenylylsulfate 3'-phosphotransferase)]

sequence:

opentargets:
cytosol [GO:0005829]; adenylylsulfate kinase activity [GO:0004020]; ATP binding [GO:0005524]; nucleotidyltransferase activity [GO:0016779]; sulfate adenylyltransferase (ATP) activity [GO:0004781]; 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process [GO:0050428]; blood coagulation [GO:0007596]; bone development [GO:0060348]; skeletal system development [GO:0001501]; sulfate assimilation [GO:0000103]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=O95340-1; Sequence=Displayed; Name=B; IsoId=O95340-2; Sequence=VSP_001259; 


uniprotID: Q96A54
geneSymbol: ADIPOR1
reactome: R-HSA-163680;
pdb: 3WXV;5LXG;
length: 375
go: ENSG00000159346;
name:
Adiponectin receptor protein 1 (Progestin and adipoQ receptor family member 1) (Progestin and adipoQ receptor family member I)

sequence:

opentargets:
integral component of membrane [GO:0016021]; intrinsic component of plasma membrane [GO:0031226]; membrane [GO:0016020]; plasma membrane [GO:0005886]; adipokinetic hormone receptor activity [GO:0097003]; adiponectin binding [GO:0055100]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; signaling receptor activity [GO:0038023]; adiponectin-activated signaling pathway [GO:0033211]; fatty acid oxidation [GO:0019395]; glucose homeostasis [GO:0042593]; hormone-mediated signaling pathway [GO:0009755]; leptin-mediated signaling pathway [GO:0033210]; negative regulation of cell growth [GO:0030308]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of JAK-STAT cascade [GO:0046427]; regulation of fatty acid biosynthetic process [GO:0042304]; regulation of glucose metabolic process [GO:0010906]; regulation of lipid metabolic process [GO:0019216]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12802337, ECO:0000269|PubMed:25855295}; Multi-pass membrane protein {ECO:0000269|PubMed:12802337, ECO:0000269|PubMed:25855295}. Note=Localized to the cell membrane and intracellular organelles. {ECO:0000269|PubMed:12802337}.


uniprotID: Q8N4S7
geneSymbol: PAQR4
name: Progestin and adipoQ receptor family member 4 (Progestin and adipoQ receptor family member IV)
length: 273
go: ENSG00000162073;
opentargets: integral component of membrane [GO:0016021]; signaling receptor activity [GO:0038023]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N4S7-1; Sequence=Displayed; Name=2; IsoId=Q8N4S7-2; Sequence=VSP_011481; Name=3; IsoId=Q8N4S7-3; Sequence=VSP_011482; Note=No experimental confirmation available.; 


