# annotation

uniprotID: Q96AX2
geneSymbol: RAB37
reactome: R-HSA-6798695;R-HSA-8873719;
name: Ras-related protein Rab-37
length: 223
go: ENSG00000172794;
snps: rs34215331
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle. Note=Secretory granules. {ECO:0000250}.
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; intracellular protein transport [GO:0006886]; neutrophil degranulation [GO:0043312]; Rab protein signal transduction [GO:0032482]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96AX2-1; Sequence=Displayed; Name=2; IsoId=Q96AX2-2; Sequence=VSP_041268; Name=3; IsoId=Q96AX2-3; Sequence=VSP_043155; Note=No experimental confirmation available.; Name=4; IsoId=Q96AX2-4; Sequence=VSP_043156; Note=No experimental confirmation available.; 


uniprotID: P20336
geneSymbol: RAB3A
name: Ras-related protein Rab-3A
length: 220
go: ENSG00000105649;
reactome:
R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-6798695;R-HSA-8873719;R-HSA-8876198;R-HSA-888590;

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; anchored component of synaptic vesicle membrane [GO:0098993]; axon [GO:0030424]; clathrin-sculpted acetylcholine transport vesicle membrane [GO:0060201]; clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane [GO:0061202]; clathrin-sculpted glutamate transport vesicle membrane [GO:0060203]; clathrin-sculpted monoamine transport vesicle membrane [GO:0070083]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular vesicle [GO:1903561]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; secretory granule membrane [GO:0030667]; synaptic vesicle [GO:0008021]; terminal bouton [GO:0043195]; vesicle [GO:0031982]; ATPase activator activity [GO:0001671]; ATPase binding [GO:0051117]; GDP-dissociation inhibitor binding [GO:0051021]; GTP binding [GO:0005525]; GTP-dependent protein binding [GO:0030742]; GTPase activity [GO:0003924]; myosin V binding [GO:0031489]; protein C-terminus binding [GO:0008022]; axonogenesis [GO:0007409]; constitutive secretory pathway [GO:0045054]; evoked neurotransmitter secretion [GO:0061670]; glutamate secretion [GO:0014047]; intracellular protein transport [GO:0006886]; lung development [GO:0030324]; maintenance of presynaptic active zone structure [GO:0048790]; mitochondrion organization [GO:0007005]; neuromuscular synaptic transmission [GO:0007274]; neutrophil degranulation [GO:0043312]; positive regulation of exocytosis [GO:0045921]; positive regulation of regulated secretory pathway [GO:1903307]; post-embryonic development [GO:0009791]; post-translational protein modification [GO:0043687]; protein localization to plasma membrane [GO:0072659]; protein secretion [GO:0009306]; Rab protein signal transduction [GO:0032482]; regulation of exocytosis [GO:0017157]; regulation of short-term neuronal synaptic plasticity [GO:0048172]; regulation of synaptic vesicle fusion to presynaptic active zone membrane [GO:0031630]; respiratory system process [GO:0003016]; response to electrical stimulus [GO:0051602]; sensory perception of touch [GO:0050975]; synaptic vesicle exocytosis [GO:0016079]; synaptic vesicle maturation [GO:0016188]; synaptic vesicle recycling [GO:0036465]; vesicle docking involved in exocytosis [GO:0006904]


uniprotID: Q8IUD2
geneSymbol: ERC1
name: ELKS/Rab6-interacting/CAST family member 1 (ERC-1) (Rab6-interacting protein 2)
length: 1116
go: ENSG00000082805;
snps: rs35037408 rs12319376
sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi membrane [GO:0000139]; IkappaB kinase complex [GO:0008385]; presynaptic active zone [GO:0048786]; presynaptic membrane [GO:0042734]; synapse [GO:0045202]; cadherin binding [GO:0045296]; leucine zipper domain binding [GO:0043522]; PDZ domain binding [GO:0030165]; Rab GTPase binding [GO:0017137]; I-kappaB phosphorylation [GO:0007252]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein transport [GO:0015031]; regulation of transcription, DNA-templated [GO:0006355]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=ELKS epsilon; IsoId=Q8IUD2-1; Sequence=Displayed; Name=2; Synonyms=ELKS beta; IsoId=Q8IUD2-2; Sequence=VSP_011451, VSP_011452, VSP_011454, VSP_011455; 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; Synonyms=ELKS delta; IsoId=Q8IUD2-3; Sequence=VSP_011451; Name=4; Synonyms=ELKS alpha; IsoId=Q8IUD2-4; Sequence=VSP_011451, VSP_011452, VSP_011453, VSP_011454, VSP_011455; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; Synonyms=ELKS gamma; IsoId=Q8IUD2-5; Sequence=VSP_011450, VSP_011452, VSP_011454, VSP_011455; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=In neurons, localized closed to presynaptic membrane. Recruited on Golgi membranes by RAB6A in a GTP-dependent manner (By similarity). {ECO:0000250}.


uniprotID: Q86UN2
geneSymbol: RTN4RL1
reactome: R-HSA-163125;
length: 441
go: ENSG00000185924;
name:
Reticulon-4 receptor-like 1 (Nogo receptor-like 2) (Nogo-66 receptor homolog 2) (Nogo-66 receptor-related protein 3) (NgR3)

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; cell projection [GO:0042995]; cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane raft [GO:0045121]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; chondroitin sulfate binding [GO:0035374]; heparin binding [GO:0008201]; signaling receptor activity [GO:0038023]; axon regeneration [GO:0031103]; corpus callosum development [GO:0022038]; negative regulation of axon regeneration [GO:0048681]; negative regulation of neuron projection development [GO:0010977]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12694398}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:12694398}. Membrane raft {ECO:0000269|PubMed:12694398}. Perikaryon {ECO:0000250|UniProtKB:Q80WD0}. Cell projection {ECO:0000250|UniProtKB:Q80WD0}. Note=Localized to the surface of neurons, including axons. {ECO:0000250|UniProtKB:Q80WD0}.


uniprotID: Q08999
geneSymbol: RBL2
pdb: 4XI9;5C1D;
length: 1139
go: ENSG00000103479;
snps: rs17800727
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-1362277;R-HSA-1362300;R-HSA-1538133;R-HSA-539107;R-HSA-6804114;R-HSA-69202;R-HSA-69231;R-HSA-69656;

name:
Retinoblastoma-like protein 2 (130 kDa retinoblastoma-associated protein) (p130) (Retinoblastoma-related protein 2) (RBR-2) (pRb2)

sequence:

opentargets:
chromatin [GO:0000785]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; promoter-specific chromatin binding [GO:1990841]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II regulatory region DNA binding [GO:0001012]; cell differentiation [GO:0030154]; chromatin organization [GO:0006325]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of gene expression [GO:0010629]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of cell division [GO:0051302]; regulation of lipid kinase activity [GO:0043550]; regulation of mitotic cell cycle [GO:0007346]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08999-1; Sequence=Displayed; Name=2; IsoId=Q08999-2; Sequence=VSP_054328, VSP_054329; Note=No experimental confirmation available.; 


uniprotID: Q86UN3
geneSymbol: RTN4RL2
reactome: R-HSA-163125;
length: 420
go: ENSG00000186907;
name:
Reticulon-4 receptor-like 2 (Nogo receptor-like 3) (Nogo-66 receptor homolog 1) (Nogo-66 receptor-related protein 2) (NgR2)

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; axon [GO:0030424]; cell surface [GO:0009986]; dendrite [GO:0030425]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; axon regeneration [GO:0031103]; cell surface receptor signaling pathway [GO:0007166]; corpus callosum development [GO:0022038]; negative regulation of neuron projection development [GO:0010977]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UN3-1; Sequence=Displayed; Name=2; IsoId=Q86UN3-2; Sequence=VSP_047767, VSP_047768; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12694398, ECO:0000269|PubMed:12839991}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:12694398}. Membrane raft {ECO:0000269|PubMed:12694398}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q7M6Z0}. Perikaryon {ECO:0000250|UniProtKB:Q80WD1}. Cell projection, axon {ECO:0000250|UniProtKB:Q80WD1}. Note=Localized to the surface of neurons, including axons. Detected close to synapses, but is excluded from synapses. {ECO:0000250|UniProtKB:Q7M6Z0}.


uniprotID: Q70E73
geneSymbol: RAPH1
pdb: 4GMV;4GN1;
length: 1250
go: ENSG00000173166;
name:
Ras-associated and pleckstrin homology domains-containing protein 1 (RAPH1) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 18 protein) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 9 protein) (Lamellipodin) (Proline-rich EVH1 ligand 2) (PREL-2) (Protein RMO1)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; filopodium [GO:0030175]; lamellipodium [GO:0030027]; nuclear body [GO:0016604]; plasma membrane [GO:0005886]; axon extension [GO:0048675]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=RMO1-RAPH1; Synonyms=Lamellipodin, RAPH1; IsoId=Q70E73-10; Sequence=Displayed; Name=RMO1; IsoId=Q70E73-2; Sequence=VSP_035788, VSP_035789; Name=RMO1a; IsoId=Q70E73-3; Sequence=VSP_035784, VSP_035788, VSP_035789; Name=RMO1b; IsoId=Q70E73-4; Sequence=VSP_035786, VSP_035788, VSP_035789; Name=RMO1c; IsoId=Q70E73-5; Sequence=VSP_035787; Name=RMO1ab; Synonyms=Lamellipodin-S, Lpd-S; IsoId=Q70E73-6; Sequence=VSP_035785, VSP_035788, VSP_035789; Name=RMO1ac; IsoId=Q70E73-7; Sequence=VSP_035784, VSP_035787; Name=RMO1bc; IsoId=Q70E73-8; Sequence=VSP_035786, VSP_035787; Name=RMO1abc; IsoId=Q70E73-9; Sequence=VSP_035785, VSP_035787; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15469845}; Peripheral membrane protein {ECO:0000269|PubMed:15469845}; Cytoplasmic side {ECO:0000269|PubMed:15469845}. Cell projection, lamellipodium {ECO:0000269|PubMed:15469845}. Cell projection, filopodium {ECO:0000269|PubMed:15469845}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15469845}. Note=Recruited to the membrane, via the PH domain, by the phosphoinositide, PI(3,4)P2. Colocalizes with ENAH/VASP at the tips of lamellipodia and filopodia. Also colocalizes with the pathogens, Vaccinia and Enteropathogenic E.coli (EPEC) at the interface between the pathogen and their actin.


uniprotID: Q8NDT2
geneSymbol: RBM15B
length: 890
go: ENSG00000259956;
name:
Putative RNA-binding protein 15B (One-twenty two protein 3) (HsOTT3) (HuOTT3) (RNA-binding motif protein 15B)

sequence:

opentargets:
nuclear envelope [GO:0005635]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA N6-methyladenosine methyltransferase complex [GO:0036396]; RNA binding [GO:0003723]; dosage compensation by inactivation of X chromosome [GO:0009048]; mRNA export from nucleus [GO:0006406]; mRNA processing [GO:0006397]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA methylation [GO:0001510]; RNA splicing [GO:0008380]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDT2-1; Sequence=Displayed; Name=2; IsoId=Q8NDT2-2; Sequence=VSP_053878; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:16129689}. Nucleus speckle {ECO:0000269|PubMed:19586903}. Nucleus envelope {ECO:0000269|PubMed:19586903}. Note=Colocalizes with BMLF1 in the nucleus. Localized in the nucleoplasm with a granular staining pattern and excluded from the nucleoli. {ECO:0000269|PubMed:16129689}.


uniprotID: P57735
geneSymbol: RAB25
reactome: R-HSA-8873719;
pdb: 2OIL;3TSO;
name: Ras-related protein Rab-25 (CATX-8)
length: 213
go: ENSG00000132698;
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; pseudopodium [GO:0031143]; pseudopodium membrane [GO:0031260]; recycling endosome [GO:0055037]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; myosin V binding [GO:0031489]; epithelial cell morphogenesis [GO:0003382]; exocytosis [GO:0006887]; intracellular protein transport [GO:0006886]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell migration [GO:0010634]; pseudopodium organization [GO:0031268]; Rab protein signal transduction [GO:0032482]; regulation of vesicle-mediated transport [GO:0060627]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell projection, pseudopodium membrane {ECO:0000269|PubMed:17925226}. Cytoplasmic vesicle {ECO:0000269|PubMed:17925226}. Note=Colocalizes with integrin alpha-V/beta-1 in vesicles at the pseudopodial tips. {ECO:0000269|PubMed:17925226}.


uniprotID: Q9Y620
geneSymbol: RAD54B
name: DNA repair and recombination protein RAD54B (EC 3.6.4.-) (RAD54 homolog B)
length: 910
go: ENSG00000197275;
snps: rs28910279 rs2919661 rs119490107 rs114216685 rs752511501 rs150017319
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA helicase activity [GO:0003678]; DNA translocase activity [GO:0015616]; RNA helicase activity [GO:0003724]; double-strand break repair via homologous recombination [GO:0000724]; mitotic recombination [GO:0006312]; reciprocal meiotic recombination [GO:0007131]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y620-1; Sequence=Displayed; Name=2; IsoId=Q9Y620-2; Sequence=VSP_045956, VSP_045957; Note=No experimental confirmation available.; 


uniprotID: P54727
geneSymbol: RAD23B
reactome: R-HSA-532668;R-HSA-5689877;R-HSA-5696394;R-HSA-5696395;
pdb: 1P1A;1PVE;1UEL;
length: 409
go: ENSG00000119318;
snps: rs1805329
name:
UV excision repair protein RAD23 homolog B (HR23B) (hHR23B) (XP-C repair-complementing complex 58 kDa protein) (p58)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; XPC complex [GO:0071942]; damaged DNA binding [GO:0003684]; polyubiquitin modification-dependent protein binding [GO:0031593]; proteasome binding [GO:0070628]; single-stranded DNA binding [GO:0003697]; ubiquitin binding [GO:0043130]; embryonic organ development [GO:0048568]; global genome nucleotide-excision repair [GO:0070911]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; protein folding [GO:0006457]; regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032434]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P54727-1; Sequence=Displayed; Name=2; IsoId=P54727-2; Sequence=VSP_045606; Note=Highly expressed in the testis and in ejaculated spermatozoa.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The intracellular distribution is cell cycle dependent. Localized to the nucleus and the cytoplasm during G1 phase. Nuclear levels decrease during S-phase; upon entering mitosis, relocalizes in the cytoplasm without association with chromatin.


uniprotID: P0C7P1
geneSymbol: RBMY1D
name: RNA-binding motif protein, Y chromosome, family 1 member D
length: 496
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; U2 snRNP [GO:0005686]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0C7P1-1; Sequence=Displayed; Name=2; IsoId=P0C7P1-2; Sequence=VSP_056242; Note=No experimental confirmation available.; 


uniprotID: P51606
geneSymbol: RENBP
reactome: R-HSA-446210;
length: 427
go: ENSG00000102032;
drug: DB00141;
snps: rs2229241 rs2269371
name:
N-acylglucosamine 2-epimerase (AGE) (EC 5.1.3.8) (GlcNAc 2-epimerase) (N-acetyl-D-glucosamine 2-epimerase) (Renin-binding protein) (RnBP)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; endopeptidase inhibitor activity [GO:0004866]; N-acylglucosamine 2-epimerase activity [GO:0050121]; peptidase inhibitor activity [GO:0030414]; protein homodimerization activity [GO:0042803]; N-acetylglucosamine metabolic process [GO:0006044]; N-acetylmannosamine metabolic process [GO:0006051]; N-acetylneuraminate catabolic process [GO:0019262]; regulation of blood pressure [GO:0008217]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51606-1; Sequence=Displayed; Name=2; IsoId=P51606-2; Sequence=VSP_039022, VSP_039023; 


uniprotID: Q92900
geneSymbol: UPF1
reactome: R-HSA-975956;R-HSA-975957;
pdb: 2GJK;2GK6;2GK7;2IYK;2WJV;2WJY;2XZO;2XZP;6EJ5;
length: 1129
go: ENSG00000005007;
snps: rs17339451
name:
Regulator of nonsense transcripts 1 (EC 3.6.4.-) (ATP-dependent helicase RENT1) (Nonsense mRNA reducing factor 1) (NORF1) (Up-frameshift suppressor 1 homolog) (hUpf1)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; exon-exon junction complex [GO:0035145]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; supraspliceosomal complex [GO:0044530]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; chromatin binding [GO:0003682]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; telomeric DNA binding [GO:0042162]; zinc ion binding [GO:0008270]; 3'-UTR-mediated mRNA destabilization [GO:0061158]; cell cycle phase transition [GO:0044770]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; dosage compensation by inactivation of X chromosome [GO:0009048]; histone mRNA catabolic process [GO:0071044]; mRNA export from nucleus [GO:0006406]; nuclear-transcribed mRNA catabolic process [GO:0000956]; nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay [GO:0000294]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of mRNA catabolic process [GO:0061014]; regulation of telomere maintenance [GO:0032204]; regulation of translational termination [GO:0006449]; telomere maintenance via semi-conservative replication [GO:0032201]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92900-1; Sequence=Displayed; Name=2; IsoId=Q92900-2; Sequence=VSP_003393; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, P-body. Nucleus. Note=Hyperphosphorylated form is targeted to the P-body, while unphosphorylated protein is distributed throughout the cytoplasm.


uniprotID: Q96D71
geneSymbol: REPS1
reactome: R-HSA-8856825;R-HSA-8856828;
name: RalBP1-associated Eps domain-containing protein 1 (RalBP1-interacting protein 1)
length: 796
go: ENSG00000135597;
snps: rs201191394
sequence:

opentargets:
clathrin-coated pit [GO:0005905]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; SH3 domain binding [GO:0017124]; membrane organization [GO:0061024]; receptor-mediated endocytosis [GO:0006898]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96D71-1; Sequence=Displayed; Name=2; IsoId=Q96D71-2; Sequence=VSP_007953, VSP_007954; Name=3; IsoId=Q96D71-3; Sequence=VSP_007955; Name=4; IsoId=Q96D71-4; Sequence=VSP_007953; 

location:
SUBCELLULAR LOCATION: Membrane, clathrin-coated pit {ECO:0000269|PubMed:20946875}. Note=Colocalize with ITSN1 at the plasma membrane in structures that are most probably clathrin-coated pits.


uniprotID: Q13127
geneSymbol: REST
reactome: R-HSA-3214815;R-HSA-8943724;
pdb: 2CZY;
name: RE1-silencing transcription factor (Neural-restrictive silencer factor) (X2 box repressor)
length: 1097
go: ENSG00000084093;
snps: rs869025312 rs2228991 rs2227902 rs2227903 rs3796529
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase activity [GO:0004407]; metal ion binding [GO:0046872]; outward rectifier potassium channel activity [GO:0015271]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; cardiac muscle cell myoblast differentiation [GO:0060379]; cellular response to drug [GO:0035690]; cellular response to electrical stimulus [GO:0071257]; cellular response to glucocorticoid stimulus [GO:0071385]; hematopoietic progenitor cell differentiation [GO:0002244]; histone H4 deacetylation [GO:0070933]; negative regulation by host of viral transcription [GO:0043922]; negative regulation of aldosterone biosynthetic process [GO:0032348]; negative regulation of amniotic stem cell differentiation [GO:2000798]; negative regulation of calcium ion-dependent exocytosis [GO:0045955]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cortisol biosynthetic process [GO:2000065]; negative regulation of dense core granule biogenesis [GO:2000706]; negative regulation of gene expression [GO:0010629]; negative regulation of insulin secretion [GO:0046676]; negative regulation of mesenchymal stem cell differentiation [GO:2000740]; negative regulation of neurogenesis [GO:0050768]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of gene expression [GO:0010468]; regulation of osteoblast differentiation [GO:0045667]; regulation of transcription, DNA-templated [GO:0006355]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q13127-1; Sequence=Displayed; Name=2; IsoId=Q13127-2; Sequence=VSP_022064, VSP_022065; Name=3; Synonyms=N4; IsoId=Q13127-3; Sequence=VSP_022066, VSP_022068; Name=4; IsoId=Q13127-4; Sequence=VSP_022067; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27531581}. Cytoplasm {ECO:0000269|PubMed:27531581}. Note=Colocalizes with ZFP90 in the nucleus (By similarity). In response to hypoxia, there is a more pronounced increase in levels in the nucleus as compared to the cytoplasm. {ECO:0000250|UniProtKB:Q8VIG1, ECO:0000269|PubMed:27531581}.


uniprotID: P09455
geneSymbol: RBP1
reactome: R-HSA-2453864;R-HSA-2453902;R-HSA-975634;
pdb: 5H8T;5H9A;5HA1;5HBS;5LJB;5LJC;5LJD;5LJE;5LJG;5LJH;5LJK;
length: 135
go: ENSG00000114115;
drug: DB00459;DB00162;
name:
Retinol-binding protein 1 (Cellular retinol-binding protein) (CRBP) (Cellular retinol-binding protein I) (CRBP-I)

sequence:
MPVDFTGYWKMLVNENFEEYLRALDVNVALRKIANLLKPDKEIVQDGDHMIIRTLSTFRNYIMDFQVGKEFEEDLTGIDDRKCMTTVSWDGDKLQCVQKGEKEGRGWTQWIEGDELHLEMRVEGVVCKQVFKKVQ

opentargets:
cytosol [GO:0005829]; lipid droplet [GO:0005811]; nucleoplasm [GO:0005654]; all-trans-retinol binding [GO:1904768]; retinal binding [GO:0016918]; retinoid binding [GO:0005501]; lipid homeostasis [GO:0055088]; retinoic acid biosynthetic process [GO:0002138]; retinoid metabolic process [GO:0001523]; vitamin A metabolic process [GO:0006776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P09455-1; Sequence=Displayed; Name=2; IsoId=P09455-2; Sequence=VSP_046201, VSP_046202; Note=No experimental confirmation available. {ECO:0000244|PubMed:24129315, ECO:0000305}; Name=3; IsoId=P09455-3; Sequence=VSP_046201, VSP_046203; Note=No experimental confirmation available. {ECO:0000244|PubMed:24129315}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:22665496}. Lipid droplet {ECO:0000269|PubMed:15632377}.


uniprotID: P18124
geneSymbol: RPL7
pdb: 4UG0;4V6X;5AJ0;5LKS;5T2C;6EK0;
name: 60S ribosomal protein L7 (Large ribosomal subunit protein uL30)
length: 248
go: ENSG00000147604;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic large ribosomal subunit [GO:0022625]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; polysome [GO:0005844]; postsynaptic density [GO:0014069]; ribonucleoprotein complex [GO:1990904]; DNA binding [GO:0003677]; mRNA binding [GO:0003729]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000463]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; ribosomal large subunit biogenesis [GO:0042273]; rRNA processing [GO:0006364]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q96A58
geneSymbol: RERG
pdb: 2ATV;
name: Ras-related and estrogen-regulated growth inhibitor
length: 199
go: ENSG00000134533;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11533059}.
sequence:
MAKSAEVKLAIFGRAGVGKSALVVRFLTKRFIWEYDPTLESTYRHQATIDDEVVSMEILDTAGQEDTIQREGHMRWGEGFVLVYDITDRGSFEEVLPLKNILDEIKKPKNVTLILVGNKADLDHSRQVSTEEGEKLATELACAFYECSACTGEGNITEIFYELCREVRRRRMVQGKTRRRSSTTHVKQAINKMLTKISS

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; estrogen receptor binding [GO:0030331]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; response to hormone [GO:0009725]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96A58-1; Sequence=Displayed; Name=2; IsoId=Q96A58-2; Sequence=VSP_043393; Note=No experimental confirmation available.; 


uniprotID: Q9HD89
geneSymbol: RETN
reactome: R-HSA-6798695;
pdb: 1LV6;
length: 108
go: ENSG00000104918;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q99P87}.
name:
Resistin (Adipose tissue-specific secretory factor) (ADSF) (C/EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein) (Cysteine-rich secreted protein A12-alpha-like 2) (Cysteine-rich secreted protein FIZZ3)

sequence:
MKALCLLLLPVLGLLVSSKTLCSMEEAINERIQEVAGSLIFRAISSIGLECQSVTSRGDLATCPRGFAVTGCTCGSACGSWDVRAETTCHCQCAGMDWTGARCCRVQP

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; specific granule lumen [GO:0035580]; hormone activity [GO:0005179]; aging [GO:0007568]; fat cell differentiation [GO:0045444]; negative regulation of feeding behavior [GO:2000252]; neutrophil degranulation [GO:0043312]; positive regulation of progesterone secretion [GO:2000872]; positive regulation of synaptic transmission [GO:0050806]; response to insulin [GO:0032868]; response to mechanical stimulus [GO:0009612]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HD89-1; Sequence=Displayed; Name=2; Synonyms=delta2ASV; IsoId=Q9HD89-2; Sequence=VSP_055861; 


uniprotID: Q8IZJ4
geneSymbol: RGL4
length: 473
go: ENSG00000159496;
snps: rs738786 rs17003394 rs17003397 rs2070446 rs17003398 rs2070449 rs8137247 rs1007298
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000250}.
name:
Ral-GDS-related protein (hRGR) (Ral guanine nucleotide dissociation stimulator-like 4) (RalGDS-like 4)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; guanyl-nucleotide exchange factor activity [GO:0005085]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=A number of isoforms are produced.; Name=1; IsoId=Q8IZJ4-1; Sequence=Displayed; Name=2; IsoId=Q8IZJ4-2; Sequence=VSP_055850; Note=No experimental confirmation available.; 


uniprotID: Q9H477
geneSymbol: RBKS
reactome: R-HSA-71336;
pdb: 2FV7;5BYC;5BYD;5BYE;5BYF;5C3Y;5C3Z;5C40;5C41;
name: Ribokinase (RK) (EC 2.7.1.15)
length: 322
go: ENSG00000171174;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; ribokinase activity [GO:0004747]; carbohydrate phosphorylation [GO:0046835]; D-ribose catabolic process [GO:0019303]; pentose-phosphate shunt [GO:0006098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H477-1; Sequence=Displayed; Name=2; IsoId=Q9H477-2; Sequence=VSP_054380; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P25332, ECO:0000255|HAMAP-Rule:MF_03215}. Nucleus {ECO:0000250|UniProtKB:P25332, ECO:0000255|HAMAP-Rule:MF_03215}.


uniprotID: Q96R05
geneSymbol: RBP7
pdb: 1LPJ;6AT8;
length: 134
go: ENSG00000162444;
opentargets: cytoplasm [GO:0005737]; retinal binding [GO:0016918]; retinol binding [GO:0019841]
drug: DB00162;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Retinoid-binding protein 7 (Cellular retinoic acid-binding protein 4) (CRABP4) (CRBP4) (Cellular retinoic acid-binding protein IV) (CRABP-IV)

sequence:
MPADLSGTWTLLSSDNFEGYMLALGIDFATRKIAKLLKPQKVIEQNGDSFTIHTNSSLRNYFVKFKVGEEFDEDNRGLDNRKCKSLVIWDNDRLTCIQKGEKKNRGWTHWIEGDKLHLEMFCEGQVCKQTFQRA


uniprotID: Q9UBZ9
geneSymbol: REV1
reactome: R-HSA-110312;R-HSA-5655862;R-HSA-5656121;R-HSA-5656169;
pdb: 2EBW;2LSI;2LSK;2LSY;2N1G;3GQC;3VU7;4BA9;4EXT;4GK0;4GK5;5VZM;6ASR;6AXD;
length: 1251
go: ENSG00000135945;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
DNA repair protein REV1 (EC 2.7.7.-) (Alpha integrin-binding protein 80) (AIBP80) (Rev1-like terminal deoxycytidyl transferase)

sequence:

opentargets:
nucleoplasm [GO:0005654]; damaged DNA binding [GO:0003684]; deoxycytidyl transferase activity [GO:0017125]; metal ion binding [GO:0046872]; DNA replication [GO:0006260]; error-prone translesion synthesis [GO:0042276]; response to UV [GO:0009411]; translesion synthesis [GO:0019985]

snps:
rs3087403 rs3087386 rs28382882 rs3087399 rs3087394 rs3087398 rs28382941 rs28382942 rs28382961 rs28382960 rs3087396 rs3087401 rs3087388 rs3087393 rs3087392 rs3087400 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=REV1; IsoId=Q9UBZ9-1; Sequence=Displayed; Name=2; Synonyms=REV1S; IsoId=Q9UBZ9-2; Sequence=VSP_012812; Name=3; IsoId=Q9UBZ9-3; Sequence=VSP_012809, VSP_012810, VSP_012811; Note=No experimental confirmation available.; 


uniprotID: O75570
geneSymbol: MTRF1
name: Peptide chain release factor 1, mitochondrial (MRF-1) (MtRF-1)
length: 445
go: ENSG00000120662;
snps: rs9532758 rs9566725 rs9315812
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17803939}.
sequence:

opentargets:
mitochondrion [GO:0005739]; translation release factor activity [GO:0003747]; mitochondrial translational termination [GO:0070126]; regulation of translational termination [GO:0006449]; translational termination [GO:0006415]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75570-1; Sequence=Displayed; Name=2; IsoId=O75570-2; Sequence=VSP_055858, VSP_055859; Note=No experimental confirmation available.; 


uniprotID: O00287
geneSymbol: RFXAP
pdb: 2KW3;
length: 272
go: ENSG00000133111;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Regulatory factor X-associated protein (RFX-associated protein) (RFX DNA-binding complex 36 kDa subunit)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; transcription coactivator activity [GO:0003713]; positive regulation of transcription, DNA-templated [GO:0045893]


uniprotID: O75677
geneSymbol: RFPL1
name: Ret finger protein-like 1 (RING finger protein 78)
length: 317
go: ENSG00000128250;
snps: rs16987627 rs3804076 rs16987628 rs12484086
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; cell cycle [GO:0007049]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20725088}. Nucleus {ECO:0000269|PubMed:20725088}. Note=A higher concentration is observed in the cytoplasm compared to the nucleus. {ECO:0000269|PubMed:20725088}.


uniprotID: Q9NZL6
geneSymbol: RGL1
reactome: R-HSA-1989781;
name: Ral guanine nucleotide dissociation stimulator-like 1 (RalGDS-like 1)
length: 768
go: ENSG00000143344;
sequence:

opentargets:
cytosol [GO:0005829]; Ral guanyl-nucleotide exchange factor activity [GO:0008321]; regulation of lipid metabolic process [GO:0019216]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q9NZL6-1; Sequence=Displayed; Name=B; IsoId=Q9NZL6-2; Sequence=VSP_001824; 


uniprotID: P58872
geneSymbol: RHBDL3
name: Rhomboid-related protein 3 (EC 3.4.21.105) (Ventrhoid transmembrane protein)
length: 404
go: ENSG00000141314;
snps: rs4795690
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; serine-type endopeptidase activity [GO:0004252]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P58872-1; Sequence=Displayed; Name=2; IsoId=P58872-2; Sequence=VSP_056259; Name=3; IsoId=P58872-3; Sequence=VSP_056260; Note=No experimental confirmation available.; 


uniprotID: Q8IUC4
geneSymbol: RHPN2
reactome: R-HSA-5666185;
pdb: 2VSV;
name: Rhophilin-2 (76 kDa RhoB effector protein) (GTP-Rho-binding protein 2) (p76RBE)
length: 686
go: ENSG00000131941;
snps: rs28626308 rs28407794
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:12473120}.
sequence:

opentargets:
cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IUC4-1; Sequence=Displayed; Name=2; IsoId=Q8IUC4-2; Sequence=VSP_055548; Note=No experimental confirmation available.; 


uniprotID: P35243
geneSymbol: RCVRN
reactome: R-HSA-2514859;
pdb: 2D8N;
name: Recoverin (Cancer-associated retinopathy protein) (Protein CAR)
length: 200
go: ENSG00000109047;
drug: DB08231;
sequence:

opentargets:
dendrite [GO:0030425]; calcium ion binding [GO:0005509]; calcium sensitive guanylate cyclase activator activity [GO:0008048]; phototransduction [GO:0007602]; regulation of calcium ion transport [GO:0051924]; signal transduction [GO:0007165]; visual perception [GO:0007601]


uniprotID: Q06141
geneSymbol: REG3A
reactome: R-HSA-6803157;
pdb: 1UV0;2GO0;4MTH;
length: 175
go: ENSG00000172016;
location: SUBCELLULAR LOCATION: Secreted. Note=Found in the apical region of pancreatic acinar cells.
name:
Regenerating islet-derived protein 3-alpha (REG-3-alpha) (Hepatointestinal pancreatic protein) (HIP/PAP) (Human proislet peptide) (Pancreatitis-associated protein 1) (Regenerating islet-derived protein III-alpha) (Reg III-alpha) [Cleaved into: Regenerating islet-derived protein 3-alpha 16.5 kDa form; Regenerating islet-derived protein 3-alpha 15 kDa form]

sequence:
MLPPMALPSVSWMLLSCLMLLSQVQGEEPQRELPSARIRCPKGSKAYGSHCYALFLSPKSWTDADLACQKRPSGNLVSVLSGAEGSFVSSLVKSIGNSYSYVWIGLHDPTQGTEPNGEGWEWSSSDVMNYFAWERNPSTISSPGHCASLSRSTAFLRWKDYNCNVRLPYVCKFTD

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; carbohydrate binding [GO:0030246]; identical protein binding [GO:0042802]; oligosaccharide binding [GO:0070492]; peptidoglycan binding [GO:0042834]; transmembrane signaling receptor activity [GO:0004888]; acute-phase response [GO:0006953]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cell proliferation [GO:0008283]; cell wall disruption in other organism [GO:0044278]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; multicellular organism development [GO:0007275]; negative regulation of keratinocyte differentiation [GO:0045617]; positive regulation of cell proliferation [GO:0008284]; positive regulation of keratinocyte proliferation [GO:0010838]; positive regulation of wound healing [GO:0090303]; response to peptide hormone [GO:0043434]


uniprotID: Q8IUW5
geneSymbol: RELL1
name: RELT-like protein 1
length: 271
go: ENSG00000181826;
sequence:

opentargets:
integral component of membrane [GO:0016021]; microtubule cytoskeleton [GO:0015630]; plasma membrane [GO:0005886]; positive regulation of p38MAPK cascade [GO:1900745]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16389068}; Single-pass type I membrane protein {ECO:0000269|PubMed:16389068}.


uniprotID: P50120
geneSymbol: RBP2
reactome: R-HSA-975634;
name: Retinol-binding protein 2 (Cellular retinol-binding protein II) (CRBP-II)
length: 134
go: ENSG00000114113;
drug: DB00162;
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
2RCQ;2RCT;4EDE;4EEJ;4EFG;4EXZ;4GKC;4QYN;4QYP;4QZT;4QZU;4RUU;4ZCB;4ZGU;4ZH6;4ZH9;4ZJ0;4ZR2;5DG4;5DPQ;5F58;5F6B;5F7G;5FAZ;5FEN;5FFH;5U6G;6C7Z;

sequence:
MTRDQNGTWEMESNENFEGYMKALDIDFATRKIAVRLTQTKVIDQDGDNFKTKTTSTFRNYDVDFTVGVEFDEYTKSLDNRHVKALVTWEGDVLVCVQKGEKENRGWKQWIEGDKLYLELTCGDQVCRQVFKKK

opentargets:
cytosol [GO:0005829]; retinal binding [GO:0016918]; retinoid binding [GO:0005501]; retinol binding [GO:0019841]; epidermis development [GO:0008544]; retinoid metabolic process [GO:0001523]; vitamin A metabolic process [GO:0006776]


uniprotID: Q8NC44
geneSymbol: RETREG2
name: Reticulophagy regulator 2
length: 543
go: ENSG00000144567;
opentargets: integral component of membrane [GO:0016021]
snps: rs3210652 rs3731900
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6NUM9
geneSymbol: RETSAT
reactome: R-HSA-975634;
length: 610
go: ENSG00000042445;
drug: DB00162;
snps: rs4832169 rs4832168 rs13384912
name:
All-trans-retinol 13,14-reductase (EC 1.3.99.23) (All-trans-13,14-dihydroretinol saturase) (RetSat) (PPAR-alpha-regulated and starvation-induced gene protein)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nuclear outer membrane [GO:0005640]; all-trans-retinol 13,14-reductase activity [GO:0051786]; oxidoreductase activity [GO:0016491]; oxidation-reduction process [GO:0055114]; retinol metabolic process [GO:0042572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NUM9-1; Sequence=Displayed; Name=2; IsoId=Q6NUM9-2; Sequence=VSP_017410, VSP_017411; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q64FW2}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q64FW2}.


uniprotID: P82980
geneSymbol: RBP5
pdb: 1GGL;
name: Retinol-binding protein 5 (Cellular retinol-binding protein III) (CRBP-III) (HRBPiso)
length: 135
go: ENSG00000139194;
drug: DB00162;
snps: rs10963 rs7969705 rs2290237
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MPPNLTGYYRFVSQKNMEDYLQALNISLAVRKIALLLKPDKEIEHQGNHMTVRTLSTFRNYTVQFDVGVEFEEDLRSVDGRKCQTIVTWEEEHLVCVQKGEVPNRGWRHWLEGEMLYLELTARDAVCEQVFRKVR

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; retinal binding [GO:0016918]; retinoid binding [GO:0005501]; retinol binding [GO:0019841]


uniprotID: Q9Y644
geneSymbol: RFNG
reactome: R-HSA-1912420;
length: 331
go: ENSG00000169733;
name:
Beta-1,3-N-acetylglucosaminyltransferase radical fringe (EC 2.4.1.222) (O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of Golgi membrane [GO:0030173]; acetylglucosaminyltransferase activity [GO:0008375]; metal ion binding [GO:0046872]; O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity [GO:0033829]; animal organ morphogenesis [GO:0009887]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]; pattern specification process [GO:0007389]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of protein binding [GO:0032092]; protein O-linked fucosylation [GO:0036066]; regulation of Notch signaling pathway [GO:0008593]

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


uniprotID: P40938
geneSymbol: RFC3
length: 356
go: ENSG00000133119;
snps: rs3135533
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Replication factor C subunit 3 (Activator 1 38 kDa subunit) (A1 38 kDa subunit) (Activator 1 subunit 3) (Replication factor C 38 kDa subunit) (RF-C 38 kDa subunit) (RFC38)

sequence:

opentargets:
Ctf18 RFC-like complex [GO:0031390]; DNA replication factor C complex [GO:0005663]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA clamp loader activity [GO:0003689]; DNA damage response, detection of DNA damage [GO:0042769]; DNA replication [GO:0006260]; DNA strand elongation involved in DNA replication [GO:0006271]; DNA synthesis involved in DNA repair [GO:0000731]; 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]; response to organophosphorus [GO:0046683]; 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=P40938-1; Sequence=Displayed; Name=2; IsoId=P40938-2; Sequence=VSP_044920; Note=No experimental confirmation available.; 


uniprotID: Q8TAC1
geneSymbol: RFESD
name: Rieske domain-containing protein
length: 157
go: ENSG00000175449;
sequence:
MNLDGSAQDPEKREYSSVCVGREDDIKKSERMTAVVHDREVVIFYHKGEYHAMDIRCYHSGGPLHLGDIEDFDGRPCIVCPWHKYKITLATGEGLYQSINPKDPSAKPKWCSKGIKQRIHTVTVDNGNIYVTLSNEPFKCDSDFYATGDFKVIKSSS

opentargets:
2 iron, 2 sulfur cluster binding [GO:0051537]; metal ion binding [GO:0046872]; oxidoreductase activity [GO:0016491]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TAC1-1; Sequence=Displayed; Name=2; IsoId=Q8TAC1-2; Sequence=VSP_044452; Note=No experimental confirmation available.; 


uniprotID: A6NLU0
geneSymbol: RFPL4A
pdb: 2FBE;
name: Ret finger protein-like 4A (RING finger protein 210)
length: 287
go: ENSG00000223638;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]; metal ion binding [GO:0046872]
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8VH31}. Nucleus {ECO:0000250|UniProtKB:Q8VH31}.


uniprotID: Q6ZWI9
geneSymbol: RFPL4B
name: Ret finger protein-like 4B (RING finger protein 211)
length: 263
go: ENSG00000251258;
opentargets: metal ion binding [GO:0046872]
snps: rs11153361
sequence:


uniprotID: Q9BRK0
geneSymbol: REEP2
reactome: R-HSA-381753;
name: Receptor expression-enhancing protein 2
length: 252
go: ENSG00000132563;
snps: rs483352923 rs483352925
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
cytoplasmic microtubule [GO:0005881]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; taste receptor binding [GO:0031883]; endoplasmic reticulum tubular network organization [GO:0071786]; protein transport into membrane raft [GO:0032596]; regulation of intracellular transport [GO:0032386]; sensory perception of bitter taste [GO:0050913]; sensory perception of sweet taste [GO:0050916]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRK0-1; Sequence=Displayed; Name=2; IsoId=Q9BRK0-2; Sequence=VSP_016633; 


uniprotID: P04090
geneSymbol: RLN2
reactome: R-HSA-418555;R-HSA-444821;
pdb: 2MV1;6RLX;
name: Prorelaxin H2 [Cleaved into: Relaxin B chain; Relaxin A chain]
length: 185
go: ENSG00000107014;
snps: rs2020050 rs618066
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MPRLFFFHLLGVCLLLNQFSRAVADSWMEEVIKLCGRELVRAQIAICGMSTWSKRSLSQEDAPQTPRPVAEIVPSFINKDTETINMMSEFVANLPQELKLTLSEMQPALPQLQQHVPVLKDSSLLFEEFKKLIRNRQSEAADSSPSELKYLGLDTHSRKKRQLYSALANKCCHVGCTKRSLARFC

opentargets:
extracellular region [GO:0005576]; hormone activity [GO:0005179]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of angiogenesis [GO:0045766]; positive regulation of gene expression [GO:0010628]; regulation of catalytic activity [GO:0050790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04090-1; Sequence=Displayed; Name=2; IsoId=P04090-2; Sequence=VSP_002711, VSP_002712; 


uniprotID: Q8WXF3
geneSymbol: RLN3
reactome: R-HSA-418555;R-HSA-418594;R-HSA-444821;
pdb: 2FHW;2K1V;
length: 142
go: ENSG00000171136;
location: SUBCELLULAR LOCATION: Secreted.
name:
Relaxin-3 (Insulin-like peptide INSL7) (Insulin-like peptide 7) (Prorelaxin H3) [Cleaved into: Relaxin-3 B chain; Relaxin-3 A chain]

sequence:
MARYMLLLLLAVWVLTGELWPGAEARAAPYGVRLCGREFIRAVIFTCGGSRWRRSDILAHEAMGDTFPDADADEDSLAGELDEAMGSSEWLALTKSPQAFYRGRPSWQGTPGVLRGSRDVLAGLSSSCCKWGCSKSEISSLC

opentargets:
extracellular region [GO:0005576]; G protein-coupled receptor binding [GO:0001664]; hormone activity [GO:0005179]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: P78509
geneSymbol: RELN
reactome: R-HSA-8866376;
name: Reelin (EC 3.4.21.-)
length: 3460
go: ENSG00000189056;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; lipoprotein particle receptor binding [GO:0070325]; metal ion binding [GO:0046872]; serine-type peptidase activity [GO:0008236]; very-low-density lipoprotein particle receptor binding [GO:0070326]; associative learning [GO:0008306]; axon guidance [GO:0007411]; brain development [GO:0007420]; cell adhesion [GO:0007155]; cell morphogenesis involved in differentiation [GO:0000904]; central nervous system development [GO:0007417]; cerebral cortex tangential migration [GO:0021800]; dendrite development [GO:0016358]; glial cell differentiation [GO:0010001]; hippocampus development [GO:0021766]; lateral motor column neuron migration [GO:0097477]; layer formation in cerebral cortex [GO:0021819]; long-term memory [GO:0007616]; long-term synaptic potentiation [GO:0060291]; modulation of chemical synaptic transmission [GO:0050804]; neuron migration [GO:0001764]; NMDA glutamate receptor clustering [GO:0097114]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of AMPA receptor activity [GO:2000969]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of lateral motor column neuron migration [GO:1902078]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of neuron projection development [GO:0010976]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of small GTPase mediated signal transduction [GO:0051057]; positive regulation of synapse maturation [GO:0090129]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of TOR signaling [GO:0032008]; postsynaptic density protein 95 clustering [GO:0097119]; protein localization to synapse [GO:0035418]; receptor localization to synapse [GO:0097120]; reelin-mediated signaling pathway [GO:0038026]; regulation of behavior [GO:0050795]; regulation of NMDA receptor activity [GO:2000310]; response to pain [GO:0048265]; spinal cord patterning [GO:0021511]; ventral spinal cord development [GO:0021517]

snps:
rs201044262 rs768119894 rs794727998 rs794727996 rs797045000 rs3025962 rs362691 rs2229860 rs794727997 rs794727999 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P78509-1; Sequence=Displayed; Name=2; IsoId=P78509-2; Sequence=VSP_005575; Name=3; IsoId=P78509-3; Sequence=VSP_005576; 


uniprotID: P05451
geneSymbol: REG1A
pdb: 1LIT;1QDD;
length: 166
go: ENSG00000115386;
drug: DB03721;DB04522;
location: SUBCELLULAR LOCATION: Secreted.
name:
Lithostathine-1-alpha (Islet cells regeneration factor) (ICRF) (Islet of Langerhans regenerating protein) (REG) (Pancreatic stone protein) (PSP) (Pancreatic thread protein) (PTP) (Regenerating islet-derived protein 1-alpha) (REG-1-alpha) (Regenerating protein I alpha)

sequence:
MAQTSSYFMLISCLMFLSQSQGQEAQTELPQARISCPEGTNAYRSYCYYFNEDRETWVDADLYCQNMNSGNLVSVLTQAEGAFVASLIKESGTDDFNVWIGLHDPKKNRRWHWSSGSLVSYKSWGIGAPSSVNPGYCVSLTSSTGFQKWKDVPCEDKFSFVCKFKN

opentargets:
basal part of cell [GO:0045178]; cytosol [GO:0005829]; dendrite membrane [GO:0032590]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; growth cone [GO:0030426]; neuronal cell body membrane [GO:0032809]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; zymogen granule [GO:0042588]; growth factor activity [GO:0008083]; oligosaccharide binding [GO:0070492]; peptidoglycan binding [GO:0042834]; protein homodimerization activity [GO:0042803]; protein phosphatase binding [GO:0019903]; transmembrane signaling receptor activity [GO:0004888]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; calcium ion homeostasis [GO:0055074]; cell wall disruption in other organism [GO:0044278]; cellular response to chemokine [GO:1990869]; cellular response to gastrin [GO:1990878]; liver regeneration [GO:0097421]; midgut development [GO:0007494]; negative regulation of cell proliferation [GO:0008285]; pancreas regeneration [GO:1990798]; positive regulation of acinar cell proliferation [GO:1904699]; positive regulation of cell proliferation [GO:0008284]; positive regulation of dendrite extension [GO:1903861]; positive regulation of gene expression [GO:0010628]; positive regulation of type B pancreatic cell proliferation [GO:1904692]; protein homotetramerization [GO:0051289]; response to acetylsalicylate [GO:1903492]; response to growth hormone-releasing hormone [GO:1990864]; response to hypoxia [GO:0001666]; response to nutrient levels [GO:0031667]; response to peptide hormone [GO:0043434]; response to water-immersion restraint stress [GO:1990785]; wound healing [GO:0042060]


uniprotID: O75628
geneSymbol: REM1
pdb: 2NZJ;
length: 298
go: ENSG00000088320;
snps: rs1006459 rs59730832 rs2233829
name:
GTP-binding protein REM 1 (GTPase-regulating endothelial cell sprouting) (Rad and Gem-like GTP-binding protein 1)

sequence:

opentargets:
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]; signal transduction [GO:0007165]


uniprotID: Q9P260
geneSymbol: RELCH
length: 1216
go: ENSG00000134444;
snps: rs770815767
name:
RAB11-binding protein RELCH (LisH domain and HEAT repeat-containing protein KIAA1468) (RAB11 binding and LisH domain, coiled-coil and HEAT repeat-containing) (RAB11-binding protein containing LisH, coiled-coil, and HEAT repeats)

sequence:

opentargets:
recycling endosome [GO:0055037]; trans-Golgi network [GO:0005802]; intracellular cholesterol transport [GO:0032367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P260-1; Sequence=Displayed; Name=2; IsoId=Q9P260-2; Sequence=VSP_030016, VSP_030017; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Recycling endosome {ECO:0000269|PubMed:29514919}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:29514919}. Note=Translocated to the trans-Golgi network area in an OSBP-dependent manner (PubMed:29514919). Colocalizes with RAB11A in recycling endosomes (By similarity). Found in a complex composed of RELCH, OSBP1 and RAB11A (By similarity). {ECO:0000250|UniProtKB:Q148V7, ECO:0000269|PubMed:29514919}.


uniprotID: P00797
geneSymbol: REN
reactome: R-HSA-2022377;
name: Renin (EC 3.4.23.15) (Angiotensinogenase)
length: 406
go: ENSG00000143839;
drug: DB04387;DB02296;DB03736;DB03024;DB09026;DB01844;DB03395;DB04379;DB00212;DB05203;
snps: rs121917743 rs11571098 rs868694193 rs11571083 rs11571117 rs121917742
location: SUBCELLULAR LOCATION: Secreted. Membrane. Note=Associated to membranes via binding to ATP6AP2.
pdb:
1BBS;1BIL;1BIM;1HRN;1RNE;2BKS;2BKT;2FS4;2G1N;2G1O;2G1R;2G1S;2G1Y;2G20;2G21;2G22;2G24;2G26;2G27;2I4Q;2IKO;2IKU;2IL2;2REN;2V0Z;2V10;2V11;2V12;2V13;2V16;2X0B;3D91;3G6Z;3G70;3G72;3GW5;3K1W;3KM4;3O9L;3OAD;3OAG;3OOT;3OQF;3OQK;3OWN;3Q3T;3Q4B;3Q5H;3SFC;3VCM;3VSW;3VSX;3VUC;3VYD;3VYE;3VYF;4AMT;4GJ5;4GJ6;4GJ7;4GJ8;4GJ9;4GJA;4GJB;4GJC;4GJD;4PYV;4Q1N;4RYC;4RYG;4RZ1;4S1G;4XX3;4XX4;5KOQ;5KOS;5KOT;5SXN;5SY2;5SY3;5SZ9;5T4S;5TMG;5TMK;5V8V;5VPM;5VRP;

sequence:

opentargets:
apical part of cell [GO:0045177]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; aspartic-type endopeptidase activity [GO:0004190]; insulin-like growth factor receptor binding [GO:0005159]; peptidase activity [GO:0008233]; signaling receptor binding [GO:0005102]; amyloid-beta metabolic process [GO:0050435]; angiotensin maturation [GO:0002003]; cell maturation [GO:0048469]; cellular response to drug [GO:0035690]; drinking behavior [GO:0042756]; hormone-mediated signaling pathway [GO:0009755]; kidney development [GO:0001822]; male gonad development [GO:0008584]; mesonephros development [GO:0001823]; proteolysis [GO:0006508]; regulation of blood pressure [GO:0008217]; regulation of MAPK cascade [GO:0043408]; renin-angiotensin regulation of aldosterone production [GO:0002018]; response to cAMP [GO:0051591]; response to cGMP [GO:0070305]; response to immobilization stress [GO:0035902]; response to lipopolysaccharide [GO:0032496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00797-1; Sequence=Displayed; Name=2; IsoId=P00797-2; Sequence=VSP_012899; 


uniprotID: Q8IYK8
geneSymbol: REM2
pdb: 3CBQ;
name: GTP-binding protein REM 2 (Rad and Gem-like GTP-binding protein 2)
length: 340
go: ENSG00000139890;
snps: rs8014119
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9WTY2}.
sequence:

opentargets:
plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; negative regulation of high voltage-gated calcium channel activity [GO:1901842]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYK8-1; Sequence=Displayed; Name=2; IsoId=Q8IYK8-2; Sequence=VSP_056922, VSP_056923; Note=No experimental confirmation available.; 


uniprotID: O75787
geneSymbol: ATP6AP2
reactome: R-HSA-2022377;R-HSA-6798695;
pdb: 3LBS;3LC8;
length: 350
go: ENSG00000182220;
snps: rs9014 rs35798522
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Renin receptor (ATPase H(+)-transporting lysosomal accessory protein 2) (ATPase H(+)-transporting lysosomal-interacting protein 2) (ER-localized type I transmembrane adaptor) (Embryonic liver differentiation factor 10) (N14F) (Renin/prorenin receptor) (Vacuolar ATP synthase membrane sector-associated protein M8-9) (ATP6M8-9) (V-ATPase M8.9 subunit)

sequence:

opentargets:
cell body [GO:0044297]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; enzyme binding [GO:0019899]; signaling receptor activity [GO:0038023]; angiotensin maturation [GO:0002003]; eye pigmentation [GO:0048069]; head morphogenesis [GO:0060323]; neutrophil degranulation [GO:0043312]; positive regulation of transforming growth factor beta1 production [GO:0032914]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of MAPK cascade [GO:0043408]; rostrocaudal neural tube patterning [GO:0021903]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75787-1; Sequence=Displayed; Name=2; IsoId=O75787-2; Sequence=VSP_056910; Note=No experimental confirmation available.; 


uniprotID: Q02878
geneSymbol: RPL6
pdb: 4UG0;4V6X;5AJ0;5LKS;5T2C;6EK0;
length: 288
go: ENSG00000089009;
snps: rs17851813 rs16942044
name:
60S ribosomal protein L6 (Large ribosomal subunit protein eL6) (Neoplasm-related protein C140) (Tax-responsive enhancer element-binding protein 107) (TaxREB107)

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; cytosolic large ribosomal subunit [GO:0022625]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleus [GO:0005634]; polysomal ribosome [GO:0042788]; postsynaptic density [GO:0014069]; rough endoplasmic reticulum [GO:0005791]; cadherin binding [GO:0045296]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; cytoplasmic translation [GO:0002181]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; regulation of transcription, DNA-templated [GO:0006355]; ribosomal large subunit assembly [GO:0000027]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:25957688}. Cytoplasm {ECO:0000305|PubMed:23636399, ECO:0000305|PubMed:25901680}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:Q2YGT9}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:Q2YGT9, ECO:0000269|PubMed:25957688}.


uniprotID: Q5W5W9
geneSymbol: RESP18
name: Regulated endocrine-specific protein 18
length: 228
go: ENSG00000182698;
opentargets: cytoplasmic vesicle [GO:0031410]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=B; IsoId=Q5W5W9-2; Sequence=Displayed; Name=1; Synonyms=A; IsoId=Q5W5W9-1; Sequence=VSP_059544, VSP_059547, VSP_059548, VSP_059549; Name=3; Synonyms=C; IsoId=Q5W5W9-3; Sequence=VSP_059545, VSP_059546; Note=No experimental confirmation available. May be due to intron retention. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250|UniProtKB:P47940}. Golgi apparatus {ECO:0000250|UniProtKB:P47940}. Cytoplasmic vesicle, secretory vesicle lumen {ECO:0000250|UniProtKB:P47940}. Note=Found in the lumen of secretory vesicles (dense core vesicles, DCV). However, seems to be retained intracellularly and not secreted. {ECO:0000250|UniProtKB:P47939, ECO:0000250|UniProtKB:P47940}.


uniprotID: Q86VR2
geneSymbol: RETREG3
name: Reticulophagy regulator 3
length: 466
go: ENSG00000141699;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; protein-containing complex [GO:0032991]; positive regulation of neuron projection development [GO:0010976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VR2-1; Sequence=Displayed; Name=2; IsoId=Q86VR2-2; Sequence=VSP_056991; Note=No experimental confirmation available.; 


uniprotID: Q8N1G1
geneSymbol: REXO1
length: 1221
go: ENSG00000079313;
snps: rs10415018 rs4807145 rs34831403 rs2396359
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12943681}.
name:
RNA exonuclease 1 homolog (EC 3.1.-.-) (Elongin-A-binding protein 1) (EloA-BP1) (Transcription elongation factor B polypeptide 3-binding protein 1)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; exonuclease activity [GO:0004527]; nucleic acid binding [GO:0003676]


uniprotID: O60673
geneSymbol: REV3L
reactome: R-HSA-110312;R-HSA-5655862;R-HSA-5656121;
pdb: 3ABD;3ABE;3VU7;4EXT;4GK0;4GK5;5O8K;6BC8;6BCD;6BI7;
length: 3130
go: ENSG00000009413;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
DNA polymerase zeta catalytic subunit (EC 2.7.7.7) (Protein reversionless 3-like) (REV3-like) (hREV3)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; zeta DNA polymerase complex [GO:0016035]; 4 iron, 4 sulfur cluster binding [GO:0051539]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; metal ion binding [GO:0046872]; nucleotide binding [GO:0000166]; DNA-dependent DNA replication [GO:0006261]; error-prone translesion synthesis [GO:0042276]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]

snps:
rs1053911 rs3218579 rs3218598 rs3218593 rs17539588 rs458017 rs3218600 rs462779 rs3218578 rs3218597 rs3218595 rs17539616 rs3218572 rs1053913 rs3218582 rs3218585 rs17539644 rs17539651 rs3218599 rs3218604 rs3218606 rs17539692 rs17510963 rs3218592 rs3204953 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60673-1; Sequence=Displayed; Name=2; IsoId=O60673-2; Sequence=VSP_024121; 


uniprotID: Q9UGC7
geneSymbol: MTRF1L
reactome: R-HSA-5419276;
length: 380
go: ENSG00000112031;
snps: rs3818125 rs3818123 rs12660881 rs3192723
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17803939}.
name:
Peptide chain release factor 1-like, mitochondrial (Mitochondrial translational release factor 1-like) (mtRF1a)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; translation release factor activity [GO:0003747]; mitochondrial translational termination [GO:0070126]; translational termination [GO:0006415]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UGC7-1; Sequence=Displayed; Name=2; IsoId=Q9UGC7-2; Sequence=VSP_033141, VSP_033142; Name=3; IsoId=Q9UGC7-3; Sequence=VSP_033139; Name=4; IsoId=Q9UGC7-4; Sequence=VSP_033140, VSP_033141, VSP_033142; 


uniprotID: O00559
geneSymbol: EBAG9
reactome: R-HSA-9018519;
length: 213
go: ENSG00000147654;
name:
Receptor-binding cancer antigen expressed on SiSo cells (Cancer-associated surface antigen RCAS1) (Estrogen receptor-binding fragment-associated gene 9 protein)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; secretory granule [GO:0030141]; peptidase activator activity involved in apoptotic process [GO:0016505]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00559-1; Sequence=Displayed; Name=2; IsoId=O00559-2; Sequence=VSP_055503; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:12672804}; Single-pass type III membrane protein {ECO:0000269|PubMed:12672804}. Note=According to PubMed:10426319, it also exists as a soluble form which has the same biological activities. The existence of such soluble form is however uncertain.


uniprotID: P61572
geneSymbol: ERVK-19
length: 105
name:
Endogenous retrovirus group K member 19 Rec protein (HERV-K(C19) Rec protein) (HERV-K_19q11 provirus Rec protein)

sequence:
MNPSEMQRKAPPRRRRHRNRAPLTHKMNKMVTSEEQMKLPSTKKAEPPTWAQLKKLTQLATKYLENTKVTQTPESMLLAALMIVSMVSAGVPNSSEETATIENGP


uniprotID: Q92781
geneSymbol: RDH5
reactome: R-HSA-2453864;R-HSA-2453902;R-HSA-5365859;
length: 318
go: ENSG00000135437;
drug: DB00157;DB00162;
name:
11-cis retinol dehydrogenase (11-cis RDH) (11-cis RoDH) (EC 1.1.1.315) (9-cis retinol dehydrogenase) (9cRDH) (Retinol dehydrogenase 5) (Short chain dehydrogenase/reductase family 9C member 5)

sequence:

opentargets:
cell body [GO:0044297]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; retinol dehydrogenase activity [GO:0004745]; response to stimulus [GO:0050896]; retinoid metabolic process [GO:0001523]; retinol metabolic process [GO:0042572]; visual perception [GO:0007601]

snps:
rs3138143 rs62638195 rs759359491 rs1058635 rs62638185 rs765993603 rs377029071 rs62638187 rs104894374 rs758411232 rs104894373 rs62638191 rs62638193 rs62638194 rs111033593 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11675386}; Peripheral membrane protein {ECO:0000269|PubMed:11675386}. Endoplasmic reticulum lumen {ECO:0000269|PubMed:11675386}.


uniprotID: P10745
geneSymbol: RBP3
reactome: R-HSA-2187335;R-HSA-2453902;
length: 1247
go: ENSG00000265203;
drug: DB00162;
name:
Retinol-binding protein 3 (Interphotoreceptor retinoid-binding protein) (IRBP) (Interstitial retinol-binding protein)

sequence:

opentargets:
cone matrix sheath [GO:0090658]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; retinal binding [GO:0016918]; retinoid binding [GO:0005501]; retinol binding [GO:0019841]; serine-type peptidase activity [GO:0008236]; lipid metabolic process [GO:0006629]; retinoid metabolic process [GO:0001523]; visual perception [GO:0007601]

snps:
rs864621997 rs782157576 rs782398712 rs368898051 rs111245635 rs864621999 rs201808774 rs148093336 rs864622000 rs782664364 rs864622001 rs142945423 rs11204213 rs373766942 rs548622709 rs200706310 rs864622002 rs146150511 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix. Note=Interphotoreceptor matrix that permeates the space between the retina and the contiguous layer of pigment epithelium cells.


uniprotID: Q96IC2
geneSymbol: REXO5
name: RNA exonuclease 5 (EC 3.1.-.-) (Exonuclease NEF-sp)
length: 774
go: ENSG00000005189;
sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; exonuclease activity [GO:0004527]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IC2-1; Sequence=Displayed; Name=2; IsoId=Q96IC2-2; Sequence=VSP_025443; 


uniprotID: Q52LD8
geneSymbol: RFTN2
name: Raftlin-2 (Raft-linking protein 2)
length: 501
go: ENSG00000162944;
sequence:

opentargets:
plasma membrane [GO:0005886]; dsRNA transport [GO:0033227]; response to exogenous dsRNA [GO:0043330]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q14699}; Lipid-anchor {ECO:0000250|UniProtKB:Q14699}.


uniprotID: Q6PCD5
geneSymbol: RFWD3
pdb: 6CVZ;
length: 774
go: ENSG00000168411;
snps: rs8058922 rs17854997 rs7193541 rs17854996
name:
E3 ubiquitin-protein ligase RFWD3 (EC 2.3.2.27) (RING finger and WD repeat domain-containing protein 3) (RING finger protein 201)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; site of DNA damage [GO:0090734]; MDM2/MDM4 family protein binding [GO:0097371]; metal ion binding [GO:0046872]; p53 binding [GO:0002039]; ubiquitin-protein transferase activity [GO:0004842]; cellular response to DNA damage stimulus [GO:0006974]; chromosome breakage [GO:0031052]; double-strand break repair via homologous recombination [GO:0000724]; interstrand cross-link repair [GO:0036297]; mitotic G1 DNA damage checkpoint [GO:0031571]; protein ubiquitination [GO:0016567]; regulation of DNA damage checkpoint [GO:2000001]; replication fork processing [GO:0031297]; response to ionizing radiation [GO:0010212]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20173098, ECO:0000269|PubMed:21504906, ECO:0000269|PubMed:21558276, ECO:0000269|PubMed:28575657, ECO:0000269|PubMed:28691929}. Nucleus, PML body {ECO:0000269|PubMed:21558276}. Cytoplasm {ECO:0000269|PubMed:21558276, ECO:0000269|PubMed:28691929}. Note=In undamaged cells, found both in the cytoplasm and in the nucleus, partially associated with PML nuclear bodies (PubMed:21558276). In response to replication block, such as that caused by hydroxyurea treatment, or to DNA damage caused by ionizing radiations or doxorubicin, recruited to the nucleus, to stalled replication forks or to sites of DNA repair (PubMed:21504906, PubMed:28575657). This recruitment depends upon RPA2 (PubMed:21504906). {ECO:0000269|PubMed:21504906, ECO:0000269|PubMed:28575657}.


uniprotID: Q13156
geneSymbol: RPA4
reactome: R-HSA-68962;
name: Replication protein A 30 kDa subunit (RP-A p30) (Replication factor A protein 4) (RF-A protein 4)
length: 261
go: ENSG00000204086;
snps: rs2642219
sequence:

opentargets:
chromatin [GO:0000785]; chromosome, telomeric region [GO:0000781]; condensed nuclear chromosome [GO:0000794]; DNA replication factor A complex [GO:0005662]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; damaged DNA binding [GO:0003684]; double-stranded DNA binding [GO:0003690]; G-rich strand telomeric DNA binding [GO:0098505]; sequence-specific DNA binding [GO:0043565]; single-stranded DNA binding [GO:0003697]; base-excision repair [GO:0006284]; DNA damage checkpoint [GO:0000077]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; DNA topological change [GO:0006265]; DNA unwinding involved in DNA replication [GO:0006268]; double-strand break repair via homologous recombination [GO:0000724]; G1/S transition of mitotic cell cycle [GO:0000082]; heteroduplex formation [GO:0030491]; mismatch repair [GO:0006298]; mitotic recombination [GO:0006312]; nucleotide-excision repair [GO:0006289]; positive regulation of helicase activity [GO:0051096]; reciprocal meiotic recombination [GO:0007131]; regulation of DNA damage checkpoint [GO:2000001]; telomere maintenance via recombination [GO:0000722]; telomere maintenance via telomerase [GO:0007004]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19942684}. Note=Localizes to DNA repair foci after DNA damage.


uniprotID: O75154
geneSymbol: RAB11FIP3
reactome: R-HSA-5620916;
pdb: 2D7C;2HV8;4D0M;4UJ3;4UJ4;
length: 756
go: ENSG00000090565;
name:
Rab11 family-interacting protein 3 (FIP3-Rab11) (Rab11-FIP3) (Arfophilin-1) (EF hands-containing Rab-interacting protein) (Eferin) (MU-MB-17.148)

sequence:

opentargets:
centrosome [GO:0005813]; cleavage furrow [GO:0032154]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; endosome [GO:0005768]; intercellular bridge [GO:0045171]; intracellular membrane-bounded organelle [GO:0043231]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; recycling endosome [GO:0055037]; recycling endosome membrane [GO:0055038]; ADP-ribosylation factor binding [GO:0030306]; calcium ion binding [GO:0005509]; dynein light intermediate chain binding [GO:0051959]; protein homodimerization activity [GO:0042803]; Rab GTPase binding [GO:0017137]; cell cycle [GO:0007049]; cell division [GO:0051301]; endocytic recycling [GO:0032456]; negative regulation of adiponectin secretion [GO:0070164]; protein localization to cilium [GO:0061512]; regulation of cytokinesis [GO:0032465]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75154-1; Sequence=Displayed; Name=2; IsoId=O75154-2; Sequence=VSP_038664, VSP_038665; Note=No experimental confirmation available.; Name=3; IsoId=O75154-3; Sequence=VSP_038666; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Recycling endosome membrane {ECO:0000269|PubMed:11495908, ECO:0000269|PubMed:15601896, ECO:0000269|PubMed:17007872, ECO:0000269|PubMed:17394487}; Peripheral membrane protein. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15158446, ECO:0000269|PubMed:15601896, ECO:0000269|PubMed:17394487, ECO:0000269|PubMed:18511905}. Cleavage furrow {ECO:0000269|PubMed:15158446, ECO:0000269|PubMed:15601896}. Midbody {ECO:0000269|PubMed:15601896, ECO:0000269|PubMed:16148947, ECO:0000269|PubMed:18511905}. Note=In early mitosis remains diffuse and distributed through the cell. The onset of anaphase sequesters these vesicles to the centrosomes at the opposite poles of the cell. During telophase these vesicles move from the centrosomes, to the furrow, and then to the midbody to aid in abscission (PubMed:15158446, PubMed:15601896, PubMed:18511905). Interaction with Rab11 mediates localization to endosomes (PubMed:11495908). Interaction with ARF6 mediates localization to the midbody (PubMed:16148947). {ECO:0000269|PubMed:11495908, ECO:0000269|PubMed:15601896, ECO:0000269|PubMed:16148947, ECO:0000269|PubMed:18511905}.


uniprotID: P48380
geneSymbol: RFX3
name: Transcription factor RFX3 (Regulatory factor X 3)
length: 749
go: ENSG00000080298;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulatory region DNA binding [GO:0044212]; cell maturation [GO:0048469]; cilium assembly [GO:0060271]; cilium-dependent cell motility [GO:0060285]; endocrine pancreas development [GO:0031018]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of type B pancreatic cell development [GO:2000078]; regulation of insulin secretion [GO:0050796]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]; type B pancreatic cell maturation [GO:0072560]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P48380-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=P48380-2; Sequence=VSP_007626, VSP_007627; Name=3; IsoId=P48380-3; Sequence=VSP_015162, VSP_015163; Note=No experimental confirmation available.; 


uniprotID: P0C7P2
geneSymbol: RFPL3S
length: 107
name:
Putative protein RFPL3S (RFPL3 antisense RNA 1) (RFPL3 antisense gene protein 1) (Ret finger protein-like 3 antisense gene protein)

sequence:
MQTDTSNLSARSCRFCVMSPLRTLLRSSEMRRKLLAVSASKVISTVKRKTSCSASGQKPTPCLSSTSKAQISPDFSFFNSVSSSKIKTFHEETSLFQIFIGMLCGNT


uniprotID: Q6ZTI6
geneSymbol: RFLNA
name: Refilin-A (Regulator of filamin protein A) (RefilinA)
length: 216
go: ENSG00000178882;
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZTI6-1; Sequence=Displayed; Name=2; IsoId=Q6ZTI6-2; Sequence=VSP_022713; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q7TS73}. Note=Colocalizes with FLNA along actin bundle-like structures. {ECO:0000250|UniProtKB:Q7TS73}.


uniprotID: P0DJD0
geneSymbol: RGPD1
length: 1748
name:
RANBP2-like and GRIP domain-containing protein 1 (Ran-binding protein 2-like 6) (RanBP2-like 6) (RanBP2L6)

sequence:


uniprotID: Q6NW40
geneSymbol: RGMB
reactome: R-HSA-373752;
pdb: 4BQ6;4BQ7;4BQ8;4UHZ;4UI0;4UI2;
name: RGM domain family member B (DRG11-responsive axonal guidance and outgrowth of neurite) (DRAGON)
length: 437
go: ENSG00000174136;
sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; coreceptor activity [GO:0015026]; identical protein binding [GO:0042802]; BMP signaling pathway [GO:0030509]; cell adhesion [GO:0007155]; positive regulation of transcription, DNA-templated [GO:0045893]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}. Membrane raft {ECO:0000250}.


uniprotID: Q6NSI4
geneSymbol: RADX
name: RPA-related protein RADX (RPA-related and RAD51-antagonist, X-chromosome)
length: 855
go: ENSG00000147231;
snps: rs5962707
sequence:

opentargets:
replication fork [GO:0005657]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6NSI4-1; Sequence=Displayed; Name=2; IsoId=Q6NSI4-2; Sequence=VSP_021182, VSP_021183; Name=3; IsoId=Q6NSI4-3; Sequence=VSP_044983, VSP_044984; Note=No experimental confirmation available.; Name=4; IsoId=Q6NSI4-4; Sequence=VSP_044984; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:28735897}. Note=Recruited to replication forks. {ECO:0000269|PubMed:28735897}.


uniprotID: P25791
geneSymbol: LMO2
reactome: R-HSA-8939236;
pdb: 2XJY;2XJZ;2YPA;4KFZ;
length: 158
go: ENSG00000135363;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Rhombotin-2 (Cysteine-rich protein TTG-2) (LIM domain only protein 2) (LMO-2) (T-cell translocation protein 2)

sequence:
MSSAIERKSLDPSEEPVDEVLQIPPSLLTCGGCQQNIGDRYFLKAIDQYWHEDCLSCDLCGCRLGEVGRRLYYKLGRKLCRRDYLRLFGQDGLCASCDKRIRAYEMTMRVKDKVYHLECFKCAACQKHFCVGDRYLLINSDIVCEQDIYEWTKINGMI

opentargets:
nucleoplasm [GO:0005654]; transcription factor complex [GO:0005667]; bHLH transcription factor binding [GO:0043425]; cofactor binding [GO:0048037]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; metal ion binding [GO:0046872]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cellular response to thyroid hormone stimulus [GO:0097067]; mRNA transcription by RNA polymerase II [GO:0042789]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of hematopoietic stem cell differentiation [GO:1902036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=LMO2a; IsoId=P25791-1; Sequence=Displayed; Name=3; IsoId=P25791-3; Sequence=VSP_038961; Name=2; IsoId=P25791-4; Sequence=VSP_038962, VSP_038963; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9H4I0
geneSymbol: RAD21L1
name: Double-strand-break repair protein rad21-like protein 1
length: 556
go: ENSG00000244588;
snps: rs450739 rs203534 rs17717241
sequence:

opentargets:
chromosome [GO:0005694]; lateral element [GO:0000800]; meiotic cohesin complex [GO:0030893]; nuclear meiotic cohesin complex [GO:0034991]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; fertilization [GO:0009566]; meiotic attachment of telomere to nuclear envelope [GO:0070197]; meiotic cell cycle [GO:0051321]; seminiferous tubule development [GO:0072520]; sister chromatid cohesion [GO:0007062]; spermatogenesis [GO:0007283]; synaptonemal complex assembly [GO:0007130]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H4I0-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9H4I0-2; Sequence=VSP_038157, VSP_038158; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:A2AU37}. Chromosome {ECO:0000250|UniProtKB:A2AU37}. Note=In meiotic chromosomes, localized along axial elements in early meiosis: detectable on the axial elements in leptotene, and stays on the axial/lateral elements until mid pachytene. It then disappears and is replaced with RAD21. Compared to REC8, has mutually exclusive loading sites on the chromosomes: REC8 and RAD21L form distinct cohesin-enriched domains along the axial elements. {ECO:0000250|UniProtKB:A2AU37}.


uniprotID: O94762
geneSymbol: RECQL5
pdb: 4BK0;5LB3;5LB5;5LB8;5LBA;
length: 991
go: ENSG00000108469;
snps: rs820196 rs35566780
name:
ATP-dependent DNA helicase Q5 (EC 3.6.4.12) (DNA helicase, RecQ-like type 5) (RecQ5) (RecQ protein-like 5)

sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II, holoenzyme [GO:0016591]; ATP binding [GO:0005524]; ATP-dependent 3'-5' DNA helicase activity [GO:0043140]; DNA binding [GO:0003677]; DNA helicase activity [GO:0003678]; four-way junction helicase activity [GO:0009378]; identical protein binding [GO:0042802]; RNA polymerase II complex binding [GO:0000993]; cell division [GO:0051301]; cellular response to camptothecin [GO:0072757]; chromosome separation [GO:0051304]; DNA duplex unwinding [GO:0032508]; DNA metabolic process [GO:0006259]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; double-strand break repair via homologous recombination [GO:0000724]; mitotic cell cycle [GO:0000278]; mitotic sister chromatid segregation [GO:0000070]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of transcription elongation from RNA polymerase II promoter [GO:0034244]; replication-born double-strand break repair via sister chromatid exchange [GO:1990414]; response to X-ray [GO:0010165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Beta; IsoId=O94762-1; Sequence=Displayed; Name=Alpha; Synonyms=RecQ5b; IsoId=O94762-2; Sequence=VSP_005568; Name=Gamma; Synonyms=RecQ5a; IsoId=O94762-3; Sequence=VSP_005569, VSP_005570; Name=4; IsoId=O94762-4; Sequence=VSP_057431; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform Beta: Nucleus, nucleoplasm {ECO:0000269|PubMed:10710432}. Note=Recruited to sites of DNA damage, such as single-strand breaks and inter-strand cross-links, and at stalled replication forks. {ECO:0000269|PubMed:20643585, ECO:0000269|PubMed:22013166, ECO:0000269|PubMed:22973052, ECO:0000269|PubMed:23715498}.; SUBCELLULAR LOCATION: Isoform Alpha: Cytoplasm {ECO:0000269|PubMed:10710432}.; SUBCELLULAR LOCATION: Isoform Gamma: Cytoplasm {ECO:0000269|PubMed:10710432}.


uniprotID: P78563
geneSymbol: ADARB1
reactome: R-HSA-75102;R-HSA-77042;
pdb: 1ZY7;5ED1;5ED2;5HP2;5HP3;
length: 741
go: ENSG00000197381;
snps: rs199697177
name:
Double-stranded RNA-specific editase 1 (EC 3.5.4.37) (RNA-editing deaminase 1) (RNA-editing enzyme 1) (dsRNA adenosine deaminase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; double-stranded RNA adenosine deaminase activity [GO:0003726]; double-stranded RNA binding [GO:0003725]; metal ion binding [GO:0046872]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; tRNA-specific adenosine deaminase activity [GO:0008251]; adenosine to inosine editing [GO:0006382]; base conversion or substitution editing [GO:0016553]; defense response to virus [GO:0051607]; facial nerve morphogenesis [GO:0021610]; hypoglossal nerve morphogenesis [GO:0021618]; innate immune response [GO:0045087]; innervation [GO:0060384]; motor behavior [GO:0061744]; motor neuron apoptotic process [GO:0097049]; mRNA processing [GO:0006397]; multicellular organism growth [GO:0035264]; muscle tissue morphogenesis [GO:0060415]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of protein kinase activity by regulation of protein phosphorylation [GO:0044387]; neuromuscular process controlling posture [GO:0050884]; neuromuscular synaptic transmission [GO:0007274]; positive regulation of viral genome replication [GO:0045070]; regulation of cell cycle [GO:0051726]; RNA processing [GO:0006396]; spinal cord ventral commissure morphogenesis [GO:0021965]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=RED1-L, DRADA2B; IsoId=P78563-1; Sequence=Displayed; Note=Alu insert from position 465 to 505. Has a lower catalytic activity than isoform 2. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; Synonyms=ADAR2a, DRADA2A, RED1-S; IsoId=P78563-2; Sequence=VSP_000865; Note=Has a higher catalytic activity than isoform 1.; Name=3; Synonyms=DRADA2C; IsoId=P78563-3; Sequence=VSP_000866; Name=4; IsoId=P78563-4; Sequence=VSP_019597, VSP_000865; Name=5; Synonyms=ADAR2R; IsoId=P78563-5; Sequence=VSP_041421; Note=Likely expressed from an alternative promoter. Contains a region highly similar to the so-called ssRNA-binding R-domain of ADARB2. {ECO:0000269|PubMed:19156214}; Name=6; Synonyms=ADAR2d; IsoId=P78563-6; Sequence=VSP_000865, VSP_000866; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Note=Shuttles between nucleoli and the nucleoplasm.


uniprotID: Q9H902
geneSymbol: REEP1
reactome: R-HSA-381753;
name: Receptor expression-enhancing protein 1 (Spastic paraplegia 31 protein)
length: 201
go: ENSG00000068615;
snps: rs1060503496 rs121918262 rs1060503493
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum tubular network [GO:0071782]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; microtubule binding [GO:0008017]; olfactory receptor binding [GO:0031849]; endoplasmic reticulum tubular network organization [GO:0071786]; protein insertion into membrane [GO:0051205]; regulation of intracellular transport [GO:0032386]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H902-1; Sequence=Displayed; Name=2; IsoId=Q9H902-2; Sequence=VSP_042573; Note=No experimental confirmation available.; Name=3; IsoId=Q9H902-3; Sequence=VSP_043251; Note=No experimental confirmation available.; Name=4; IsoId=Q9H902-4; Sequence=VSP_043252; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:16826527}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:20200447}. Note=Localizes to endoplasmic reticulum tubular network. {ECO:0000269|PubMed:20200447}.


uniprotID: Q6NUK4
geneSymbol: REEP3
reactome: R-HSA-381753;
name: Receptor expression-enhancing protein 3
length: 255
go: ENSG00000165476;
snps: rs10995569
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; microtubule [GO:0005874]; cell division [GO:0051301]; mitotic nuclear envelope reassembly [GO:0007084]; nuclear envelope organization [GO:0006998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NUK4-1; Sequence=Displayed; Name=2; IsoId=Q6NUK4-2; Sequence=VSP_016634, VSP_016635; Note=No experimental confirmation available.; 


uniprotID: P04808
geneSymbol: RLN1
name: Prorelaxin H1 [Cleaved into: Relaxin B chain; Relaxin A chain]
length: 185
go: ENSG00000107018;
snps: rs397780021
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MPRLFLFHLLEFCLLLNQFSRAVAAKWKDDVIKLCGRELVRAQIAICGMSTWSKRSLSQEDAPQTPRPVAEIVPSFINKDTETIIIMLEFIANLPPELKAALSERQPSLPELQQYVPALKDSNLSFEEFKKLIRNRQSEAADSNPSELKYLGLDTHSQKKRRPYVALFEKCCLIGCTKRSLAKYC

opentargets:
extracellular region [GO:0005576]; hormone activity [GO:0005179]; female pregnancy [GO:0007565]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04808-1; Sequence=Displayed; Name=2; IsoId=P04808-2; Sequence=VSP_002709, VSP_002710; 


uniprotID: Q6UW15
geneSymbol: REG3G
reactome: R-HSA-6803157;
length: 175
go: ENSG00000143954;
location: SUBCELLULAR LOCATION: Secreted. Cytoplasm {ECO:0000250}.
name:
Regenerating islet-derived protein 3-gamma (REG-3-gamma) (Pancreatitis-associated protein 1B) (PAP-1B) (Pancreatitis-associated protein IB) (PAP IB) (Regenerating islet-derived protein III-gamma) (REG III) (Reg III-gamma) [Cleaved into: Regenerating islet-derived protein 3-gamma 16.5 kDa form; Regenerating islet-derived protein 3-gamma 15 kDa form]

sequence:
MLPPMALPSVSWMLLSCLILLCQVQGEETQKELPSPRISCPKGSKAYGSPCYALFLSPKSWMDADLACQKRPSGKLVSVLSGAEGSFVSSLVRSISNSYSYIWIGLHDPTQGSEPDGDGWEWSSTDVMNYFAWEKNPSTILNPGHCGSLSRSTGFLKWKDYNCDAKLPYVCKFKD

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; oligosaccharide binding [GO:0070492]; peptidoglycan binding [GO:0042834]; transmembrane signaling receptor activity [GO:0004888]; acute-phase response [GO:0006953]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cell wall disruption in other organism [GO:0044278]; cytolysis in other organism [GO:0051715]; defense response to Gram-positive bacterium [GO:0050830]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of keratinocyte differentiation [GO:0045617]; positive regulation of cell proliferation [GO:0008284]; positive regulation of keratinocyte proliferation [GO:0010838]; positive regulation of wound healing [GO:0090303]; response to peptide hormone [GO:0043434]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UW15-1; Sequence=Displayed; Name=2; IsoId=Q6UW15-2; Sequence=VSP_045169; 


uniprotID: O15258
geneSymbol: RER1
name: Protein RER1
length: 196
go: ENSG00000157916;
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane protein.
sequence:
MSEGDSVGESVHGKPSVVYRFFTRLGQIYQSWLDKSTPYTAVRWVVTLGLSFVYMIRVYLLQGWYIVTYALGIYHLNLFIAFLSPKVDPSLMEDSDDGPSLPTKQNEEFRPFIRRLPEFKFWHAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMKRQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; integral component of Golgi membrane [GO:0030173]; plasma membrane [GO:0005886]; acetylcholine receptor binding [GO:0033130]; positive regulation of protein localization to plasma membrane [GO:1903078]; protein retention in ER lumen [GO:0006621]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; skeletal muscle acetylcholine-gated channel clustering [GO:0071340]


uniprotID: Q9P2R6
geneSymbol: RERE
pdb: 2YQK;
length: 1566
go: ENSG00000142599;
snps: rs765016528 rs766951273 rs878853270 rs869312871
name:
Arginine-glutamic acid dipeptide repeats protein (Atrophin-1-like protein) (Atrophin-1-related protein)

sequence:

opentargets:
histone deacetylase complex [GO:0000118]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; poly-glutamine tract binding [GO:0008267]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; branching morphogenesis of a nerve [GO:0048755]; cerebellar granule cell precursor proliferation [GO:0021930]; cerebellar Purkinje cell layer maturation [GO:0021691]; chromatin remodeling [GO:0006338]; dendrite morphogenesis [GO:0048813]; NLS-bearing protein import into nucleus [GO:0006607]; radial glia guided migration of Purkinje cell [GO:0021942]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9P2R6-1; Sequence=Displayed; Name=2; IsoId=Q9P2R6-2; Sequence=VSP_016878; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00512, ECO:0000255|PROSITE-ProRule:PRU00624, ECO:0000269|PubMed:10814707, ECO:0000269|PubMed:11331249}. Note=Localized in nuclear bodies of variables size. Colocalized with PML and BAX in nuclear PODs.


uniprotID: Q96EN9
geneSymbol: REX1BD
name: Required for excision 1-B domain-containing protein
length: 201
go: ENSG00000006015;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96EN9-1; Sequence=Displayed; Name=2; IsoId=Q96EN9-2; Sequence=VSP_028325, VSP_028326; Note=No experimental confirmation available.; Name=3; IsoId=Q96EN9-3; Sequence=VSP_047493; Note=No experimental confirmation available.; 


uniprotID: Q96AH8
geneSymbol: RAB7B
reactome: R-HSA-8854214;R-HSA-8873719;R-HSA-8876198;
name: Ras-related protein Rab-7b
length: 199
go: ENSG00000276600;
sequence:
MNPRKKVDLKLIIVGAIGVGKTSLLHQYVHKTFYEEYQTTLGASILSKIIILGDTTLKLQIWDTGGQERFRSMVSTFYKGSDGCILAFDVTDLESFEALDIWRGDVLAKIVPMEQSYPMVLLGNKIDLADRKVPQEVAQGWCREKDIPYFEVSAKNDINVVQAFEMLASRALSRYQSILENHLTESIKLSPDQSRSRCC

opentargets:
Golgi apparatus [GO:0005794]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosome [GO:0005764]; phagocytic vesicle [GO:0045335]; phagocytic vesicle membrane [GO:0030670]; trans-Golgi network [GO:0005802]; vacuolar membrane [GO:0005774]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cellular response to interferon-gamma [GO:0071346]; endosome to lysosome transport [GO:0008333]; intracellular protein transport [GO:0006886]; late endosome to Golgi transport [GO:0034499]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]; negative regulation of toll-like receptor 9 signaling pathway [GO:0034164]; phagosome-lysosome fusion [GO:0090385]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of megakaryocyte differentiation [GO:0045654]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; Rab protein signal transduction [GO:0032482]

location:
SUBCELLULAR LOCATION: Late endosome {ECO:0000269|PubMed:20375062}. Lysosome {ECO:0000269|PubMed:15144907, ECO:0000269|PubMed:20375062}. Golgi apparatus {ECO:0000269|PubMed:20375062}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:20375062}. Cytoplasmic vesicle, phagosome {ECO:0000269|PubMed:21255211}. Cytoplasmic vesicle, phagosome membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis. {ECO:0000269|PubMed:21255211}.


uniprotID: P61576
geneSymbol: HERV-K104
length: 105
name:
Endogenous retrovirus group K member 104 Rec protein (HERV-K104 Rec protein) (HERV-K_5q13.3 provirus Rec protein)

sequence:
MNPSEMQRKAPPRRRRHCNRAPLTHKMNKMVTSEEEMKLPSTKKAEPLTWAQLKKLTQLATKCLENTKVTQTPESMLLAALMIVSMVSAGVTNSSKETATIENGP


uniprotID: P61571
geneSymbol: ERVK-21
name: Endogenous retrovirus group K member 21 Rec protein (HERV-K_12q14.1 provirus Rec protein)
length: 104
sequence:
MHPSEMQRKAPPRRRRHRNRAPLTHKMNKMVTSEQMKLPSTKKAEPPTWAQLKKLTQLATKYLENTKVTQTPESMLLAALMIVSMVSAGVPNSSEETATIENGP


uniprotID: Q8NDN9
geneSymbol: RCBTB1
length: 531
go: ENSG00000136144;
snps: rs4942848 rs368217569 rs772592456 rs200826424 rs143970072 rs879255547 rs556664001
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
RCC1 and BTB domain-containing protein 1 (Chronic lymphocytic leukemia deletion region gene 7 protein) (CLL deletion region gene 7 protein) (Regulator of chromosome condensation and BTB domain-containing protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cell cycle [GO:0007049]; chromatin organization [GO:0006325]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDN9-1; Sequence=Displayed; Name=2; IsoId=Q8NDN9-2; Sequence=VSP_040263, VSP_040264; Note=No experimental confirmation available.; 


uniprotID: O95199
geneSymbol: RCBTB2
length: 551
go: ENSG00000136161;
opentargets: acrosomal vesicle [GO:0001669]; Ran guanyl-nucleotide exchange factor activity [GO:0005087]
snps: rs9332000 rs9332075
name:
RCC1 and BTB domain-containing protein 2 (Chromosome condensation 1-like) (CHC1-L) (RCC1-like G exchanging factor) (Regulator of chromosome condensation and BTB domain-containing protein 2)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95199-1; Sequence=Displayed; Name=2; IsoId=O95199-2; Sequence=VSP_016723; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q99LJ7}. Note=Mainly found in the acrosomal cap region. {ECO:0000250|UniProtKB:Q99LJ7}.


uniprotID: Q9UBF6
geneSymbol: RNF7
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 2ECL;
length: 113
go: ENSG00000114125;
name:
RING-box protein 2 (Rbx2) (CKII beta-binding protein 1) (CKBBP1) (RING finger protein 7) (Regulator of cullins 2) (Sensitive to apoptosis gene protein)

sequence:
MADVEDGEETCALASHSGSSGSKSGGDKMFSLKKWNAVAMWSWDVECDTCAICRVQVMDACLRCQAENKQEDCVVVWGECNHSFHNCCMSLWVKQNNRCPLCQQDWVVQRIGK

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; Cul3-RING ubiquitin ligase complex [GO:0031463]; Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; Cul5-RING ubiquitin ligase complex [GO:0031466]; Cul7-RING ubiquitin ligase complex [GO:0031467]; cullin-RING ubiquitin ligase complex [GO:0031461]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear SCF ubiquitin ligase complex [GO:0043224]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; copper ion binding [GO:0005507]; cullin family protein binding [GO:0097602]; NEDD8 transferase activity [GO:0019788]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; post-translational protein modification [GO:0043687]; protein neddylation [GO:0045116]; response to redox state [GO:0051775]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UBF6-1; Sequence=Displayed; Name=2; Synonyms=SAG-v; IsoId=Q9UBF6-2; Sequence=VSP_008449; Note=Inactive.; Name=3; IsoId=Q9UBF6-3; Sequence=VSP_041444; Name=4; IsoId=Q9UBF6-4; Sequence=VSP_044525; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10082581}. Nucleus {ECO:0000269|PubMed:10082581}.


uniprotID: A6NEQ0
geneSymbol: RBMY1E
name: RNA-binding motif protein, Y chromosome, family 1 member E
length: 496
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; U2 snRNP [GO:0005686]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]


uniprotID: Q9H6H4
geneSymbol: REEP4
reactome: R-HSA-381753;
name: Receptor expression-enhancing protein 4
length: 257
go: ENSG00000168476;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; microtubule [GO:0005874]; microtubule binding [GO:0008017]; cell division [GO:0051301]; mitotic nuclear envelope reassembly [GO:0007084]; nuclear envelope organization [GO:0006998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6H4-1; Sequence=Displayed; Name=2; IsoId=Q9H6H4-2; Sequence=VSP_016636, VSP_016637; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23911198}; Multi-pass membrane protein {ECO:0000269|PubMed:23911198}.


uniprotID: Q9BYZ8
geneSymbol: REG4
pdb: 2KV3;
length: 158
go: ENSG00000134193;
snps: rs34996202
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12819006}.
name:
Regenerating islet-derived protein 4 (REG-4) (Gastrointestinal secretory protein) (REG-like protein) (Regenerating islet-derived protein IV) (Reg IV)

sequence:
MASRSMRLLLLLSCLAKTGVLGDIIMRPSCAPGWFYHKSNCYGYFRKLRNWSDAELECQSYGNGAHLASILSLKEASTIAEYISGYQRSQPIWIGLHDPQKRQQWQWIDGAMYLYRSWSGKSMGGNKHCAEMSSNNNFLTWSSNECNKRQHFLCKYRP

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; heparin binding [GO:0008201]; mannan binding [GO:2001065]; transmembrane signaling receptor activity [GO:0004888]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYZ8-1; Sequence=Displayed; Name=2; IsoId=Q9BYZ8-2; Sequence=VSP_014305, VSP_014308; 


uniprotID: Q9H1J1
geneSymbol: UPF3A
reactome: R-HSA-9010553;R-HSA-975957;
pdb: 2L08;
length: 476
go: ENSG00000169062;
snps: rs3752105
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttling between the nucleus and the cytoplasm.
name:
Regulator of nonsense transcripts 3A (Nonsense mRNA reducing factor 3A) (Up-frameshift suppressor 3 homolog A) (hUpf3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleus [GO:0005634]; RNA binding [GO:0003723]; structural constituent of nuclear pore [GO:0017056]; telomeric DNA binding [GO:0042162]; mRNA transport [GO:0051028]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of translation [GO:0045727]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=hUpf3p, hUPF3L; IsoId=Q9H1J1-1; Sequence=Displayed; Name=2; Synonyms=hUpf3pdelta, hUPF3S; IsoId=Q9H1J1-2; Sequence=VSP_012962; Name=3; IsoId=Q9H1J1-3; Sequence=VSP_012961; Note=No experimental confirmation available.; 


uniprotID: Q01201
geneSymbol: RELB
reactome: R-HSA-5607761;R-HSA-5621575;R-HSA-5676590;
name: Transcription factor RelB (I-Rel)
length: 579
go: ENSG00000104856;
snps: rs2230682
sequence:

opentargets:
cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; protein kinase binding [GO:0019901]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor activity [GO:0003714]; antigen processing and presentation [GO:0019882]; cellular response to osmotic stress [GO:0071470]; circadian regulation of gene expression [GO:0032922]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; lymphocyte differentiation [GO:0030098]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of transcription by RNA polymerase II [GO:0000122]; NIK/NF-kappaB signaling [GO:0038061]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to cytokine [GO:0034097]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T-helper 1 cell differentiation [GO:0045063]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20873783}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20873783}. Note=Colocalizes with NEK6 in the centrosome.


uniprotID: A0A1B0GV85
geneSymbol: REELD1
name: Reelin domain-containing protein 1
length: 526
go: ENSG00000250673;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: Q6BDI9
geneSymbol: REP15
name: Rab15 effector protein
length: 236
go: ENSG00000174236;
snps: rs929949 rs12819160
sequence:

opentargets:
early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; perinuclear region of cytoplasm [GO:0048471]; recycling endosome [GO:0055037]; receptor recycling [GO:0001881]; transferrin transport [GO:0033572]

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:16195351}. Note=Colocalizes with RAB11 and RAB15 to the endocytic recycling compartment.


uniprotID: Q9HAU5
geneSymbol: UPF2
reactome: R-HSA-9010553;R-HSA-975957;
pdb: 1UW4;2WJV;4CEK;4CEM;
length: 1272
go: ENSG00000151461;
snps: rs7079388
name:
Regulator of nonsense transcripts 2 (Nonsense mRNA reducing factor 2) (Up-frameshift suppressor 2 homolog) (hUpf2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; exon-exon junction complex [GO:0035145]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; polysome [GO:0005844]; RNA binding [GO:0003723]; telomeric DNA binding [GO:0042162]; animal organ regeneration [GO:0031100]; liver development [GO:0001889]; mRNA export from nucleus [GO:0006406]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HAU5-1; Sequence=Displayed; Name=2; IsoId=Q9HAU5-2; Sequence=VSP_012958, VSP_012959, VSP_012960; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:11073994, ECO:0000269|PubMed:11113196, ECO:0000269|PubMed:11163187}.


uniprotID: Q9H628
geneSymbol: RERGL
name: Ras-related and estrogen-regulated growth inhibitor-like protein (RERG/Ras-like protein)
length: 205
go: ENSG00000111404;
snps: rs941048
sequence:

opentargets:
membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; signal transduction [GO:0007165]


uniprotID: Q9H6L5
geneSymbol: RETREG1
name: Reticulophagy regulator 1 (Reticulophagy receptor 1)
length: 497
go: ENSG00000154153;
snps: rs34432513
sequence:

opentargets:
cis-Golgi network [GO:0005801]; endoplasmic reticulum [GO:0005783]; integral component of endoplasmic reticulum membrane [GO:0030176]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; negative regulation of neuron apoptotic process [GO:0043524]; reticulophagy [GO:0061709]; sensory perception of pain [GO:0019233]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6L5-1; Sequence=Displayed; Name=2; IsoId=Q9H6L5-2; Sequence=VSP_025685, VSP_025686; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane {ECO:0000250|UniProtKB:Q8VE91}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:26040720}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q92785
geneSymbol: DPF2
pdb: 3IUF;5B79;5VDC;
length: 391
go: ENSG00000133884;
name:
Zinc finger protein ubi-d4 (Apoptosis response zinc finger protein) (BRG1-associated factor 45D) (BAF45D) (D4, zinc and double PHD fingers family 2) (Protein requiem)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; histone acetyltransferase complex [GO:0000123]; intracellular membrane-bounded organelle [GO:0043231]; nBAF complex [GO:0071565]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase activity [GO:0004402]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92785-1; Sequence=Displayed; Name=2; IsoId=Q92785-2; Sequence=VSP_055860; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28533407, ECO:0000269|PubMed:29429572}. Cytoplasm {ECO:0000269|PubMed:28533407}.


uniprotID: Q9NYW8
geneSymbol: RBAK
length: 714
go: ENSG00000146587;
snps: rs35352738
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10702291}.
name:
RB-associated KRAB zinc finger protein (RB-associated KRAB repressor) (hRBaK) (Zinc finger protein 769)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYW8-1; Sequence=Displayed; Name=2; IsoId=Q9NYW8-2; Sequence=VSP_044805, VSP_044806; Note=No experimental confirmation available.; 


uniprotID: Q96PK6
geneSymbol: RBM14
reactome: R-HSA-8941326;
pdb: 2DNP;
length: 669
go: ENSG00000239306;ENSG00000248643;
name:
RNA-binding protein 14 (Paraspeckle protein 2) (PSP2) (RNA-binding motif protein 14) (RRM-containing coactivator activator/modulator) (Synaptotagmin-interacting protein) (SYT-interacting protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; mediator complex [GO:0016592]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; transcription factor complex [GO:0005667]; nuclear receptor transcription coactivator activity [GO:0030374]; protein binding, bridging [GO:0030674]; RNA binding [GO:0003723]; transcription coregulator activity [GO:0003712]; activation of innate immune response [GO:0002218]; centriole assembly [GO:0098534]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; glucocorticoid receptor signaling pathway [GO:0042921]; histone deacetylation [GO:0016575]; innate immune response [GO:0045087]; intracellular estrogen receptor signaling pathway [GO:0030520]; negative regulation of centriole replication [GO:0046600]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to hormone [GO:0009725]; SMAD protein signal transduction [GO:0060395]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=CoAA; IsoId=Q96PK6-1; Sequence=Displayed; Name=2; Synonyms=CoAM; IsoId=Q96PK6-2; Sequence=VSP_015078, VSP_015079; Name=3; IsoId=Q96PK6-3; Sequence=VSP_044641, VSP_044642; Note=No experimental confirmation available.; Name=4; IsoId=Q96PK6-4; Sequence=VSP_047109, VSP_047110; Name=5; IsoId=Q96PK6-5; Sequence=VSP_047494, VSP_047495; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25385835}. Nucleus, nucleolus {ECO:0000269|PubMed:11790299}. Cytoplasm {ECO:0000269|PubMed:25385835}. Note=In punctate subnuclear structures often located adjacent to splicing speckles, called paraspeckles (PubMed:11790299). Cytoplasmic localization is crucial for its function in suppressing the formation of aberrant centriolar protein complexes (PubMed:25385835). {ECO:0000269|PubMed:11790299, ECO:0000269|PubMed:25385835}.


uniprotID: Q9P0K7
geneSymbol: RAI14
length: 980
go: ENSG00000039560;
snps: rs17521570 rs35941954 rs10472941 rs1048944
name:
Ankycorbin (Ankyrin repeat and coiled-coil structure-containing protein) (Novel retinal pigment epithelial cell protein) (Retinoic acid-induced protein 14)

sequence:

opentargets:
cell cortex [GO:0005938]; cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; cell differentiation [GO:0030154]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P0K7-1; Sequence=Displayed; Name=2; Synonyms=sNORPEG; IsoId=Q9P0K7-2; Sequence=VSP_019248; Name=3; IsoId=Q9P0K7-3; Sequence=VSP_019249; Name=4; IsoId=Q9P0K7-4; Sequence=VSP_045814; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305|PubMed:11042181, ECO:0000305|PubMed:16729964}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000250|UniProtKB:Q9EP71}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q5U312}. Cell junction {ECO:0000250|UniProtKB:Q5U312}. Nucleus {ECO:0000269|PubMed:16729964}. Note=Associated with the cortical actin cytoskeleton structures in terminal web and cell-cell adhesion sites (By similarity). Highly expressed at the ectoplasmic specialization, an actin-rich cell junction specific to the testis (By similarity). Predominantly nuclear in nonconfluent cells (PubMed:16729964). {ECO:0000250|UniProtKB:Q5U312, ECO:0000269|PubMed:16729964}.


uniprotID: P29558
geneSymbol: RBMS1
pdb: 1X5O;
length: 406
go: ENSG00000153250;
location: SUBCELLULAR LOCATION: Nucleus.
name:
RNA-binding motif, single-stranded-interacting protein 1 (Single-stranded DNA-binding protein MSSP-1) (Suppressor of CDC2 with RNA-binding motif 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; double-stranded DNA binding [GO:0003690]; mRNA 3'-UTR binding [GO:0003730]; poly(A) binding [GO:0008143]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; DNA replication [GO:0006260]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P29558-1; Sequence=Displayed; Name=2; IsoId=P29558-2; Sequence=VSP_011930; Name=4; Synonyms=MSSP-2; IsoId=P29558-4; Sequence=VSP_037790, VSP_037791; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: A0AV96
geneSymbol: RBM47
pdb: 2DIS;
name: RNA-binding protein 47 (RNA-binding motif protein 47)
length: 593
go: ENSG00000163694;
snps: rs35529250 rs278981
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; RNA binding [GO:0003723]; cytidine to uridine editing [GO:0016554]; hematopoietic progenitor cell differentiation [GO:0002244]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A0AV96-1; Sequence=Displayed; Name=2; IsoId=A0AV96-2; Sequence=VSP_028839; 


uniprotID: Q96HR9
geneSymbol: REEP6
reactome: R-HSA-381753;
name: Receptor expression-enhancing protein 6 (Polyposis locus protein 1-like 1)
length: 211
go: ENSG00000115255;
snps: rs1057519317 rs1057519316 rs2271412
sequence:

opentargets:
apical part of cell [GO:0045177]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; photoreceptor inner segment [GO:0001917]; rod spherule [GO:0044317]; detection of light stimulus involved in visual perception [GO:0050908]; regulation of intracellular transport [GO:0032386]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HR9-1; Sequence=Displayed; Name=2; IsoId=Q96HR9-2; Sequence=VSP_058885; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:24098485, ECO:0000269|PubMed:27889058}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P48304
geneSymbol: REG1B
length: 166
go: ENSG00000172023;
snps: rs7586984
location: SUBCELLULAR LOCATION: Secreted.
name:
Lithostathine-1-beta (Pancreatic stone protein 2) (PSP-2) (Regenerating islet-derived protein 1-beta) (REG-1-beta) (Regenerating protein I beta)

sequence:
MAQTNSFFMLISSLMFLSLSQGQESQTELPNPRISCPEGTNAYRSYCYYFNEDPETWVDADLYCQNMNSGNLVSVLTQAEGAFVASLIKESSTDDSNVWIGLHDPKKNRRWHWSSGSLVSYKSWDTGSPSSANAGYCASLTSCSGFKKWKDESCEKKFSFVCKFKN

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; oligosaccharide binding [GO:0070492]; peptidoglycan binding [GO:0042834]; transmembrane signaling receptor activity [GO:0004888]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell proliferation [GO:0008283]; cell wall disruption in other organism [GO:0044278]; positive regulation of cell proliferation [GO:0008284]; response to peptide hormone [GO:0043434]


uniprotID: Q04864
geneSymbol: REL
reactome: R-HSA-1169091;
name: Proto-oncogene c-Rel
length: 619
go: ENSG00000162924;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; 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]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; negative regulation of gene expression [GO:0010629]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of neuron death [GO:1901215]; negative regulation of transcription by RNA polymerase II [GO:0000122]; NIK/NF-kappaB signaling [GO:0038061]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to cytokine [GO:0034097]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q04864-1; Sequence=Displayed; Name=2; IsoId=Q04864-2; Sequence=VSP_055857; Note=No experimental confirmation available.; 


uniprotID: Q9BZI7
geneSymbol: UPF3B
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;R-HSA-9010553;R-HSA-975957;
pdb: 1UW4;2XB2;
length: 483
go: ENSG00000125351;
snps: rs122468182
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttling between the nucleus and the cytoplasm.
name:
Regulator of nonsense transcripts 3B (Nonsense mRNA reducing factor 3B) (Up-frameshift suppressor 3 homolog B) (hUpf3B) (Up-frameshift suppressor 3 homolog on chromosome X) (hUpf3p-X)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; exon-exon junction complex [GO:0035145]; microtubule organizing center [GO:0005815]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; structural constituent of nuclear pore [GO:0017056]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of translation [GO:0045727]; RNA export from nucleus [GO:0006405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BZI7-1; Sequence=Displayed; Name=2; IsoId=Q9BZI7-2; Sequence=VSP_012963; 


uniprotID: Q8N0V3
geneSymbol: RBFA
pdb: 2E7G;
name: Putative ribosome-binding factor A, mitochondrial
length: 343
go: ENSG00000101546;
opentargets: mitochondrion [GO:0005739]; rRNA processing [GO:0006364]
snps: rs748338 rs3744872 rs3744873
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=p38; IsoId=Q8N0V3-1; Sequence=Displayed; Name=2; Synonyms=p27; IsoId=Q8N0V3-2; Sequence=VSP_015118, VSP_015119; 


uniprotID: Q9H2L5
geneSymbol: RASSF4
name: Ras association domain-containing protein 4
length: 321
go: ENSG00000107551;
opentargets: cell cycle [GO:0007049]; signal transduction [GO:0007165]
snps: rs34692238 rs870957
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=A; IsoId=Q9H2L5-1; Sequence=Displayed; Name=2; Synonyms=C; IsoId=Q9H2L5-2; Sequence=VSP_019356, VSP_019357; Name=3; Synonyms=B; IsoId=Q9H2L5-3; Sequence=VSP_019355; Name=4; Synonyms=D; IsoId=Q9H2L5-4; Sequence=VSP_019358, VSP_019359; 


uniprotID: Q96IZ5
geneSymbol: RBM41
pdb: 2CPX;
name: RNA-binding protein 41 (RNA-binding motif protein 41)
length: 413
go: ENSG00000089682;
snps: rs17850127
sequence:

opentargets:
U12-type spliceosomal complex [GO:0005689]; pre-mRNA intronic binding [GO:0097157]; U12 snRNA binding [GO:0030626]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96IZ5-1; Sequence=Displayed; Name=2; IsoId=Q96IZ5-2; Sequence=VSP_021349; Name=3; IsoId=Q96IZ5-3; Sequence=VSP_021346, VSP_021347, VSP_021348; 


uniprotID: Q14964
geneSymbol: RAB39A
reactome: R-HSA-6811438;R-HSA-8873719;R-HSA-8876198;
name: Ras-related protein Rab-39A (Rab-39)
length: 217
go: ENSG00000179331;
sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; lysosome [GO:0005764]; phagocytic vesicle [GO:0045335]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; autophagy [GO:0006914]; intracellular protein transport [GO:0006886]; phagosome acidification [GO:0090383]; phagosome-lysosome fusion [GO:0090385]; Rab protein signal transduction [GO:0032482]

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:24349490}; Lipid-anchor {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Lysosome {ECO:0000269|PubMed:24349490}. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis.


uniprotID: P0C0E4
geneSymbol: RAB40AL
name: Ras-related protein Rab-40A-like (Ras-like GTPase)
length: 278
go: ENSG00000102128;
snps: rs145606134
sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi membrane [GO:0000139]; mitochondrion [GO:0005739]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; intracellular protein transport [GO:0006886]; protein ubiquitination [GO:0016567]; Rab protein signal transduction [GO:0032482]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:22581972}. Mitochondrion {ECO:0000269|PubMed:12145744, ECO:0000269|PubMed:22581972}.


uniprotID: Q9UKL0
geneSymbol: RCOR1
reactome: R-HSA-3214815;R-HSA-8943724;R-HSA-983231;
name: REST corepressor 1 (Protein CoREST)
length: 485
go: ENSG00000089902;
pdb:
2IW5;2UXN;2UXX;2V1D;2X0L;2XAF;2XAG;2XAH;2XAJ;2XAQ;2XAS;2Y48;3ZMS;3ZMT;3ZMU;3ZMV;3ZMZ;3ZN0;3ZN1;4BAY;4KUM;4UV8;4UV9;4UVA;4UVB;4UVC;4UXN;4XBF;5H6Q;5H6R;5L3B;5L3C;5L3D;5L3E;5L3F;5L3G;5LBQ;5LGN;5LGT;5LGU;5LHG;5LHH;5LHI;5X60;5YJB;

sequence:

opentargets:
DNA repair complex [GO:1990391]; nucleoplasm [GO:0005654]; 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]; histone deacetylase activity [GO:0004407]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; blood coagulation [GO:0007596]; histone H4 deacetylation [GO:0070933]; negative regulation of transcription, DNA-templated [GO:0045892]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00512, ECO:0000255|PROSITE-ProRule:PRU00624, ECO:0000269|PubMed:10734093, ECO:0000269|PubMed:15897453}. Note=Upon infection by HSV-1, it is partially translocated into the cytoplasm in an HSV-1-dependent manner.


uniprotID: Q5T8P6
geneSymbol: RBM26
name: RNA-binding protein 26 (CTCL tumor antigen se70-2) (RNA-binding motif protein 26)
length: 1007
go: ENSG00000139746;
snps: rs10767
sequence:

opentargets:
nucleus [GO:0005634]; metal ion binding [GO:0046872]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; negative regulation of phosphatase activity [GO:0010923]; positive regulation of RNA export from nucleus [GO:0046833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q5T8P6-1; Sequence=Displayed; Name=2; IsoId=Q5T8P6-2; Sequence=VSP_022532; Name=3; IsoId=Q5T8P6-3; Sequence=VSP_022531, VSP_022532; Note=No experimental confirmation available.; Name=4; IsoId=Q5T8P6-4; Sequence=VSP_022528, VSP_022531; Note=No experimental confirmation available.; Name=5; IsoId=Q5T8P6-5; Sequence=VSP_022528, VSP_022531, VSP_022532; Note=No experimental confirmation available.; Name=6; IsoId=Q5T8P6-6; Sequence=VSP_022529, VSP_022530; Note=No experimental confirmation available.; 


uniprotID: Q9NW13
geneSymbol: RBM28
reactome: R-HSA-6791226;
name: RNA-binding protein 28 (RNA-binding motif protein 28)
length: 759
go: ENSG00000106344;
snps: rs11554671 rs118204055
sequence:

opentargets:
nucleolus [GO:0005730]; ribonucleoprotein complex [GO:1990904]; spliceosomal complex [GO:0005681]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NW13-1; Sequence=Displayed; Name=2; IsoId=Q9NW13-2; Sequence=VSP_046111; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:17081119, ECO:0000269|Ref.7}.


uniprotID: P54725
geneSymbol: RAD23A
reactome: R-HSA-5689877;R-HSA-5696394;R-HSA-5696395;
pdb: 1DV0;1F4I;1IFY;1OQY;1P98;1P9D;1QZE;1TP4;1ZO6;2WYQ;5XBO;
name: UV excision repair protein RAD23 homolog A (HR23A) (hHR23A)
length: 363
go: ENSG00000179262;
snps: rs11558955 rs4987203 rs4987202
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; protein-containing complex [GO:0032991]; damaged DNA binding [GO:0003684]; kinase binding [GO:0019900]; polyubiquitin modification-dependent protein binding [GO:0031593]; proteasome binding [GO:0070628]; single-stranded DNA binding [GO:0003697]; ubiquitin binding [GO:0043130]; ubiquitin-specific protease binding [GO:1990381]; nucleotide-excision repair [GO:0006289]; positive regulation of cell cycle [GO:0045787]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of viral genome replication [GO:0045070]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein destabilization [GO:0031648]; protein deubiquitination [GO:0016579]; regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032434]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P54725-1; Sequence=Displayed; Name=2; IsoId=P54725-2; Sequence=VSP_047565; Note=No experimental confirmation available.; Name=3; IsoId=P54725-3; Sequence=VSP_054694; Note=No experimental confirmation available.; 


uniprotID: O94761
geneSymbol: RECQL4
pdb: 2KMU;5LST;
length: 1208
go: ENSG00000160957;
name:
ATP-dependent DNA helicase Q4 (EC 3.6.4.12) (DNA helicase, RecQ-like type 4) (RecQ4) (RTS) (RecQ protein-like 4)

sequence:

opentargets:
chromosome [GO:0005694]; chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; annealing helicase activity [GO:0036310]; ATP binding [GO:0005524]; ATP-dependent 3'-5' DNA helicase activity [GO:0043140]; bubble DNA binding [GO:0000405]; DNA binding [GO:0003677]; four-way junction helicase activity [GO:0009378]; helicase activity [GO:0004386]; oxidized purine DNA binding [GO:0032357]; single-stranded DNA binding [GO:0003697]; telomeric D-loop binding [GO:0061821]; base-excision repair [GO:0006284]; DNA duplex unwinding [GO:0032508]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA strand renaturation [GO:0000733]; double-strand break repair via homologous recombination [GO:0000724]; multicellular organism development [GO:0007275]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA replication [GO:0045740]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; telomere maintenance [GO:0000723]; telomeric D-loop disassembly [GO:0061820]

snps:
rs35198096 rs34642881 rs2721190 rs34371341 rs4244612 rs34103564 rs34633809 rs374743591 rs557142414 rs35407712 rs35842750 rs754735053 rs2721191 rs35098923 rs35098923 rs34293591 rs33972310 rs35070885 rs36023964 rs4251691 rs34666647 rs137853232 rs4925828 rs35348691 rs36078464 rs34915097 rs34236392 rs35101495 rs35346077 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15317757}. Nucleus {ECO:0000269|PubMed:10552928}.


uniprotID: Q9NS39
geneSymbol: ADARB2
length: 739
go: ENSG00000185736;
snps: rs3793733 rs138734198 rs2271275
location: SUBCELLULAR LOCATION: Nucleus.
name:
Double-stranded RNA-specific editase B2 (EC 3.5.-.-) (RNA-dependent adenosine deaminase 3) (RNA-editing deaminase 2) (RNA-editing enzyme 2) (dsRNA adenosine deaminase B2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; adenosine deaminase activity [GO:0004000]; double-stranded RNA adenosine deaminase activity [GO:0003726]; double-stranded RNA binding [GO:0003725]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; single-stranded RNA binding [GO:0003727]; tRNA-specific adenosine deaminase activity [GO:0008251]; adenosine to inosine editing [GO:0006382]; mRNA processing [GO:0006397]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NS39-1; Sequence=Displayed; Name=2; IsoId=Q9NS39-2; Sequence=VSP_056926, VSP_056927; Note=No experimental confirmation available.; 


uniprotID: Q13123
geneSymbol: IK
pdb: 5O9Z;
name: Protein Red (Cytokine IK) (IK factor) (Protein RER)
length: 557
go: ENSG00000113141;
sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle pole [GO:0000922]; U2-type precatalytic spliceosome [GO:0071005]; identical protein binding [GO:0042802]; mitotic cell cycle [GO:0000278]; mitotic spindle assembly checkpoint [GO:0007094]; mRNA splicing, via spliceosome [GO:0000398]; protein localization to kinetochore [GO:0034501]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24945353, ECO:0000269|PubMed:28781166}. Nucleus, nucleoplasm {ECO:0000269|PubMed:24252166, ECO:0000269|PubMed:24945353}. Chromosome {ECO:0000269|PubMed:24252166}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:22351768}. Note=Predominantly present throughout the nucleoplasm during prometaphase, metaphase and anaphase. Is also detected in nuclear foci that are not identical with Cajal bodies. Starts to accumulate at chromosomes during telophase, and is nearly exclusively associated with chromosomes in newly divided cells (PubMed:24252166). Colocalizes with MAD1L1 at mitotic spindle poles during metaphase and anaphase (PubMed:22351768). {ECO:0000269|PubMed:24252166}.


uniprotID: Q00765
geneSymbol: REEP5
reactome: R-HSA-381753;
name: Receptor expression-enhancing protein 5 (Polyposis locus protein 1) (Protein TB2)
length: 189
go: ENSG00000129625;
opentargets: endoplasmic reticulum tubular network [GO:0071782]; integral component of membrane [GO:0016021]
sequence:
MSAAMRERFDRFLHEKNCMTDLLAKLEAKTGVNRSFIALGVIGLVALYLVFGYGASLLCNLIGFGYPAYISIKAIESPNKEDDTQWLTYWVVYGVFSIAEFFSDIFLSWFPFYYMLKCGFLLWCMAPSPSNGAELLYKRIIRPFFLKHESQMDSVVKDLKDKAKETADAITKEAKKATVNLLGEEKKST

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q00765-1; Sequence=Displayed; Name=2; IsoId=Q00765-2; Sequence=VSP_056633; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:23969831}. Note=Localizes to endoplasmic reticulum tubular network. {ECO:0000269|PubMed:23969831}.


uniprotID: Q8NC24
geneSymbol: RELL2
name: RELT-like protein 2
length: 303
go: ENSG00000164620;
snps: rs17855845 rs14251 rs17855844 rs11742646
sequence:

opentargets:
basement membrane [GO:0005604]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; collagen binding [GO:0005518]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of p38MAPK cascade [GO:1900745]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16389068}; Single-pass membrane protein {ECO:0000269|PubMed:16389068}.


uniprotID: O95707
geneSymbol: POP4
reactome: R-HSA-6784531;
name: Ribonuclease P protein subunit p29 (hPOP4) (EC 3.1.26.5)
length: 220
go: ENSG00000105171;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:10352175}.
sequence:

opentargets:
multimeric ribonuclease P complex [GO:0030681]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ribonuclease MRP complex [GO:0000172]; ribonuclease P complex [GO:0030677]; ribonuclease P activity [GO:0004526]; ribonuclease P RNA binding [GO:0033204]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]; tRNA 5'-leader removal [GO:0001682]; tRNA processing [GO:0008033]


uniprotID: Q96FB5
geneSymbol: RRNAD1
name: Protein RRNAD1 (Ribosomal RNA adenine dimethylase domain-containing protein 1)
length: 475
go: ENSG00000143303;
snps: rs4311877
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; rRNA (adenine-N6,N6-)-dimethyltransferase activity [GO:0000179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96FB5-1; Sequence=Displayed; Name=2; IsoId=Q96FB5-2; Sequence=VSP_054043, VSP_054044; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: O75044
geneSymbol: SRGAP2
reactome: R-HSA-194840;R-HSA-428543;R-HSA-5663220;
pdb: 2DL8;4RTT;4RUG;5I6J;5I6R;5I7D;
length: 1071
go: ENSG00000266028;
snps: rs17018890
name:
SLIT-ROBO Rho GTPase-activating protein 2 (srGAP2) (Formin-binding protein 2) (Rho GTPase-activating protein 34)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine head [GO:0044327]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; GTPase activator activity [GO:0005096]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; Rac GTPase binding [GO:0048365]; actin filament severing [GO:0051014]; dendritic spine development [GO:0060996]; extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration [GO:0021816]; filopodium assembly [GO:0046847]; lamellipodium assembly involved in ameboidal cell migration [GO:0003363]; negative regulation of cell migration [GO:0030336]; negative regulation of neuron migration [GO:2001223]; neuron projection morphogenesis [GO:0048812]; positive regulation of GTPase activity [GO:0043547]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]; substrate adhesion-dependent cell spreading [GO:0034446]

location:
SUBCELLULAR LOCATION: Cell membrane. Cell projection, dendritic spine. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Cell projection, lamellipodium. Cytoplasmic vesicle, phagosome {ECO:0000250}. Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Recruited to actin-rich phagosomes during phagocytosis. Translocates from nucleus to cytoplasm during development. {ECO:0000250}.


uniprotID: Q9NYV6
geneSymbol: RRN3
reactome: R-HSA-73762;R-HSA-73772;
length: 651
go: ENSG00000085721;
snps: rs2941256
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11250903}.
name:
RNA polymerase I-specific transcription initiation factor RRN3 (Transcription initiation factor IA) (TIF-IA)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase I core binding [GO:0001042]; RNA polymerase I CORE element sequence-specific DNA binding [GO:0001164]; RNA polymerase I general transcription initiation factor activity [GO:0001181]; cell proliferation [GO:0008283]; cytoplasm organization [GO:0007028]; homeostasis of number of cells [GO:0048872]; in utero embryonic development [GO:0001701]; negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator [GO:1902254]; nucleolus organization [GO:0007000]; positive regulation of neuron projection development [GO:0010976]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of DNA-templated transcription, initiation [GO:2000142]; ribosome biogenesis [GO:0042254]; transcription initiation from RNA polymerase I promoter [GO:0006361]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NYV6-1; Sequence=Displayed; Name=2; IsoId=Q9NYV6-2; Sequence=VSP_056338, VSP_056339; Note=No experimental confirmation available.; Name=3; IsoId=Q9NYV6-3; Sequence=VSP_056520; Note=No experimental confirmation available.; Name=4; IsoId=Q9NYV6-4; Sequence=VSP_056519, VSP_056521; Note=No experimental confirmation available.; 


uniprotID: Q6XPR3
geneSymbol: RPTN
reactome: R-HSA-6809371;
name: Repetin
length: 784
go: ENSG00000215853;
snps: rs12117644
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
cornified envelope [GO:0001533]; cytosol [GO:0005829]; extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; transition metal ion binding [GO:0046914]; cornification [GO:0070268]


uniprotID: Q14690
geneSymbol: PDCD11
reactome: R-HSA-6790901;R-HSA-6791226;
pdb: 1WI5;
name: Protein RRP5 homolog (NF-kappa-B-binding protein) (NFBP) (Programmed cell death protein 11)
length: 1871
go: ENSG00000148843;
snps: rs150893869 rs7074814 rs11598673 rs11591914 rs2986014 rs2274289 rs7831
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; transcription factor binding [GO:0008134]; mRNA processing [GO:0006397]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:14624448, ECO:0000269|PubMed:17654514}.


uniprotID: P62841
geneSymbol: RPS15
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S15 (RIG protein) (Small ribosomal subunit protein uS19)
length: 145
go: ENSG00000115268;
reactome:
R-HSA-156827;R-HSA-156902;R-HSA-1799339;R-HSA-192823;R-HSA-2408557;R-HSA-6791226;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;R-HSA-72764;R-HSA-9010553;R-HSA-975956;R-HSA-975957;

sequence:
MAEVEQKKKRTFRKFTYRGVDLDQLLDMSYEQLMQLYSARQRRRLNRGLRRKQHSLLKRLRKAKKEAPPMEKPEVVKTHLRDMIILPEMVGSMVGVYNGKTFNQVEIKPEMIGHYLGEFSITYKPVKHGRPGIGATHSSRFIPLK

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; osteoblast differentiation [GO:0001649]; ribosomal small subunit assembly [GO:0000028]; ribosomal small subunit biogenesis [GO:0042274]; ribosomal small subunit export from nucleus [GO:0000056]; rRNA processing [GO:0006364]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: P11831
geneSymbol: SRF
reactome: R-HSA-5663220;
pdb: 1HBX;1K6O;1SRS;
name: Serum response factor (SRF)
length: 508
go: ENSG00000112658;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00251, ECO:0000269|PubMed:19350017}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; primary miRNA binding [GO:0070878]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II sequence-specific DNA-binding transcription factor binding [GO:0061629]; sequence-specific DNA binding [GO:0043565]; serum response element binding [GO:0010736]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; actin cytoskeleton organization [GO:0030036]; angiogenesis involved in wound healing [GO:0060055]; associative learning [GO:0008306]; bicellular tight junction assembly [GO:0070830]; branching involved in blood vessel morphogenesis [GO:0001569]; bronchus cartilage development [GO:0060532]; cardiac myofibril assembly [GO:0055003]; cardiac vascular smooth muscle cell differentiation [GO:0060947]; cell migration involved in sprouting angiogenesis [GO:0002042]; cell-matrix adhesion [GO:0007160]; cellular response to glucose stimulus [GO:0071333]; cellular senescence [GO:0090398]; developmental growth [GO:0048589]; dorsal aorta morphogenesis [GO:0035912]; epithelial cell-cell adhesion [GO:0090136]; epithelial structure maintenance [GO:0010669]; erythrocyte development [GO:0048821]; eyelid development in camera-type eye [GO:0061029]; face development [GO:0060324]; heart development [GO:0007507]; heart looping [GO:0001947]; heart trabecula formation [GO:0060347]; hematopoietic stem cell differentiation [GO:0060218]; hippocampus development [GO:0021766]; long-term memory [GO:0007616]; long-term synaptic depression [GO:0060292]; lung morphogenesis [GO:0060425]; lung smooth muscle development [GO:0061145]; megakaryocyte development [GO:0035855]; mesoderm formation [GO:0001707]; morphogenesis of an epithelial sheet [GO:0002011]; mRNA transcription by RNA polymerase II [GO:0042789]; multicellular organism development [GO:0007275]; muscle cell cellular homeostasis [GO:0046716]; negative regulation of amyloid-beta clearance [GO:1900222]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; neuron development [GO:0048666]; neuron migration [GO:0001764]; neuron projection development [GO:0031175]; platelet activation [GO:0030168]; platelet formation [GO:0030220]; positive regulation of axon extension [GO:0045773]; positive regulation of cell differentiation [GO:0045597]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of transcription by glucose [GO:0046016]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation [GO:0003257]; positive regulation of transcription initiation from RNA polymerase II promoter [GO:0060261]; positive regulation of transcription via serum response element binding [GO:0010735]; positive thymic T cell selection [GO:0045059]; primitive streak formation [GO:0090009]; regulation of cell adhesion [GO:0030155]; regulation of smooth muscle cell differentiation [GO:0051150]; regulation of water loss via skin [GO:0033561]; response to cytokine [GO:0034097]; response to hormone [GO:0009725]; response to hypoxia [GO:0001666]; response to toxic substance [GO:0009636]; sarcomere organization [GO:0045214]; skin morphogenesis [GO:0043589]; stress fiber assembly [GO:0043149]; tangential migration from the subventricular zone to the olfactory bulb [GO:0022028]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; trachea cartilage development [GO:0060534]; transcription by RNA polymerase II [GO:0006366]; trophectodermal cell differentiation [GO:0001829]


uniprotID: P62244
geneSymbol: RPS15A
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S15a (Small ribosomal subunit protein uS8)
length: 130
go: ENSG00000134419;
reactome:
R-HSA-156827;R-HSA-156902;R-HSA-1799339;R-HSA-192823;R-HSA-2408557;R-HSA-6791226;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;R-HSA-72764;R-HSA-9010553;R-HSA-975956;R-HSA-975957;

sequence:
MVRMNVLADALKSINNAEKRGKRQVLIRPCSKVIVRFLTVMMKHGYIGEFEIIDDHRAGKIVVNLTGRLNKCGVISPRFDVQLKDLEKWQNNLLPSRQFGFIVLTTSAGIMDHEEARRKHTGGKILGFFF

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; response to virus [GO:0009615]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q7Z6B7
geneSymbol: SRGAP1
reactome: R-HSA-194840;R-HSA-428543;
name: SLIT-ROBO Rho GTPase-activating protein 1 (srGAP1) (Rho GTPase-activating protein 13)
length: 1085
go: ENSG00000196935;
snps: rs781626187 rs797044990 rs74691643 rs114817817 rs61754221
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; Rac GTPase binding [GO:0048365]; negative regulation of cell migration [GO:0030336]; 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=Q7Z6B7-1; Sequence=Displayed; Name=2; IsoId=Q7Z6B7-2; Sequence=VSP_010580; Note=No experimental confirmation available.; 


uniprotID: Q9NQG5
geneSymbol: RPRD1B
reactome: R-HSA-6807505;
pdb: 4FLA;4FU3;4HFG;4NAD;4Q94;4Q96;
length: 326
go: ENSG00000101413;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22264791}.
name:
Regulation of nuclear pre-mRNA domain-containing protein 1B (Cell cycle-related and expression-elevated protein in tumor)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II, holoenzyme [GO:0016591]; identical protein binding [GO:0042802]; RNA polymerase II complex binding [GO:0000993]; dephosphorylation of RNA polymerase II C-terminal domain [GO:0070940]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell cycle process [GO:0010564]; snRNA transcription by RNA polymerase II [GO:0042795]


uniprotID: P10301
geneSymbol: RRAS
reactome: R-HSA-399955;R-HSA-416550;R-HSA-442742;
pdb: 2FN4;
name: Ras-related protein R-Ras (p23)
length: 218
go: ENSG00000126458;
sequence:

opentargets:
extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein-containing complex binding [GO:0044877]; face morphogenesis [GO:0060325]; leukocyte differentiation [GO:0002521]; negative regulation of cell migration [GO:0030336]; positive regulation of angiogenesis [GO:0045766]; Ras protein signal transduction [GO:0007265]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of protein kinase B signaling [GO:0051896]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Inner surface of plasma membrane possibly with attachment requiring acylation of the C-terminal cysteine (By similarity with RAS).


uniprotID: P0DMP2
geneSymbol: SRGAP2B
name: SLIT-ROBO Rho GTPase-activating protein 2B (SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2)
length: 458
go: ENSG00000196369;
sequence:

opentargets:
cytoplasm [GO:0005737]; Rac GTPase binding [GO:0048365]; negative regulation of cell migration [GO:0030336]; nervous system development [GO:0007399]


uniprotID: Q9NSQ0
geneSymbol: RRP7BP
length: 103
name:
Putative ribosomal RNA-processing protein 7 homolog B (Putative gastric cancer antigen Zg14-like protein)

sequence:
MEAYDQKIAEEEAKAKEEEGVPDEEGWVKVTRRGRRPVLPRTEAASLRVLERERRKRSQKELLNYAWQHRESKMEHLAQLRKKFEEDKQRIELLRAQRKFRPY

opentargets:
CURI complex [GO:0032545]; UTP-C complex [GO:0034456]; ribosomal small subunit assembly [GO:0000028]; rRNA processing [GO:0006364]


uniprotID: P39019
geneSymbol: RPS19
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S19 (Small ribosomal subunit protein eS19)
length: 145
go: ENSG00000105372;
snps: rs104894717 rs147508369 rs104894711 rs786200936
sequence:
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYGGRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; postsynaptic density [GO:0014069]; ribosome [GO:0005840]; fibroblast growth factor binding [GO:0017134]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; defense response to Gram-negative bacterium [GO:0050829]; erythrocyte differentiation [GO:0030218]; killing of cells of other organism [GO:0031640]; maturation of SSU-rRNA [GO:0030490]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; monocyte chemotaxis [GO:0002548]; negative regulation of respiratory burst involved in inflammatory response [GO:0060266]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; nucleolus organization [GO:0007000]; positive regulation of cellular component movement [GO:0051272]; positive regulation of respiratory burst involved in inflammatory response [GO:0060265]; protein tetramerization [GO:0051262]; response to extracellular stimulus [GO:0009991]; ribosomal small subunit assembly [GO:0000028]; ribosomal small subunit biogenesis [GO:0042274]; rRNA processing [GO:0006364]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12586610, ECO:0000269|PubMed:17517689}. Note=Located more specifically in the nucleoli.


uniprotID: P10124
geneSymbol: SRGN
reactome: R-HSA-114608;
length: 158
go: ENSG00000122862;
snps: rs2229498
name:
Serglycin (Hematopoietic proteoglycan core protein) (Platelet proteoglycan core protein) (P.PG) (Secretory granule proteoglycan core protein)

sequence:
MMQKLLKCSRLVLALALILVLESSVQGYPTRRARYQWVRCNPDSNSANCLEEKGPMFELLPGESNKIPRLRTDLFPKTRIQDLNRIFPLSEDYSGSGFGSGSGSGSGSGSGFLTEMEQDYQLVDESDAFHDNLRSLDRNLPSDSQDLGQHGLEEDFML

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; mast cell granule [GO:0042629]; platelet alpha granule lumen [GO:0031093]; biomineral tissue development [GO:0031214]; granzyme-mediated apoptotic signaling pathway [GO:0008626]; maintenance of granzyme B location in T cell secretory granule [GO:0033382]; maintenance of protease location in mast cell secretory granule [GO:0033373]; mast cell secretory granule organization [GO:0033364]; negative regulation of bone mineralization [GO:0030502]; negative regulation of cytokine secretion [GO:0050710]; platelet degranulation [GO:0002576]; protein processing [GO:0016485]; T cell secretory granule organization [GO:0033371]

location:
SUBCELLULAR LOCATION: Cytoplasmic granule {ECO:0000269|PubMed:11154222}. Secreted, extracellular space {ECO:0000269|PubMed:11154222, ECO:0000269|PubMed:16870619}. Golgi apparatus {ECO:0000269|PubMed:11154222, ECO:0000269|PubMed:15136585}. Note=Found in mast cell granules and in cytoplasmic granules of cytolytic T lymphocytes from where it is secreted upon cell activation (By similarity). Secreted constitutively by endothelial cells and macrophages (PubMed:11154222). Located to Golgi apparatus during neutrophil differentiation (PubMed:15136585). {ECO:0000250|UniProtKB:P13609, ECO:0000269|PubMed:11154222, ECO:0000269|PubMed:15136585}.


uniprotID: P62266
geneSymbol: RPS23
name: 40S ribosomal protein S23 (Small ribosomal subunit protein uS12)
length: 143
go: ENSG00000186468;
snps: rs1060505034 rs1060505035
pdb:
4CXG;4CXH;4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;

sequence:
MGKCRGLRTARKLRSHRRDQKWHDKQYKKAHLGTALKANPFGGASHAKGIVLEKVGVEAKQPNSAIRKCVRVQLIKNGKKITAFVPNDGCLNFIEENDEVLVAGFGRKGHAVGDIPGVRFKVVKVANVSLLALYKGKKERPRS

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; polysomal ribosome [GO:0042788]; ribosome [GO:0005840]; rough endoplasmic reticulum [GO:0005791]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; cytoplasmic translation [GO:0002181]; maintenance of translational fidelity [GO:1990145]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; stress granule assembly [GO:0034063]; translation [GO:0006412]; translational initiation [GO:0006413]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:25957688}. Cytoplasm {ECO:0000305|PubMed:23636399, ECO:0000305|PubMed:25901680}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:Q6SA96}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:Q6SA96, ECO:0000269|PubMed:25957688}.


uniprotID: Q92766
geneSymbol: RREB1
length: 1687
go: ENSG00000124782;
snps: rs1334576 rs9502564 rs9379084 rs2281833 rs2256596 rs35742417
name:
Ras-responsive element-binding protein 1 (RREB-1) (Finger protein in nuclear bodies) (Raf-responsive zinc finger protein LZ321) (Zinc finger motif enhancer-binding protein 1) (Zep-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; fibrillar center [GO:0001650]; nuclear body [GO:0016604]; nuclear speck [GO:0016607]; 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]; metal ion binding [GO:0046872]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of lamellipodium morphogenesis [GO:2000394]; positive regulation of mammary gland epithelial cell proliferation [GO:0033601]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of wound healing, spreading of epidermal cells [GO:1903691]; Ras protein signal transduction [GO:0007265]; regulation of transcription, DNA-templated [GO:0006355]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=beta; IsoId=Q92766-1; Sequence=Displayed; Name=2; Synonyms=alpha; IsoId=Q92766-2; Sequence=VSP_026706; Name=3; Synonyms=gamma; IsoId=Q92766-3; Sequence=VSP_026707; Name=4; IsoId=Q92766-4; Sequence=VSP_026704, VSP_026705; Name=5; Synonyms=delta; IsoId=Q92766-5; Sequence=VSP_053540; Name=6; Synonyms=epsilon; IsoId=Q92766-6; Sequence=VSP_053538, VSP_053539; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:15067362, ECO:0000269|PubMed:17550981, ECO:0000269|PubMed:9305772}.


uniprotID: Q9BUL9
geneSymbol: RPP25
reactome: R-HSA-6784531;R-HSA-6791226;
pdb: 6CWX;
name: Ribonuclease P protein subunit p25 (RNase P protein subunit p25) (EC 3.1.26.5)
length: 199
go: ENSG00000178718;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12003489}.
sequence:
MENFRKVRSEEAPAGCGAEGGGPGSGPFADLAPGAVHMRVKEGSKIRNLMAFATASMAQPATRAIVFSGCGRATTKTVTCAEILKRRLAGLHQVTRLRYRSVREVWQSLPPGPTQGQTPGEPAASLSVLKNVPGLAILLSKDALDPRQPGYQPPNPHPGPSSPPAAPASKRSLGEPAAGEGSAKRSQPEPGVADEDQTA

opentargets:
microtubule organizing center [GO:0005815]; multimeric ribonuclease P complex [GO:0030681]; nucleoplasm [GO:0005654]; ribonuclease MRP complex [GO:0000172]; ribonuclease P activity [GO:0004526]; RNA binding [GO:0003723]; tRNA 5'-leader removal [GO:0001682]


uniprotID: P78345
geneSymbol: RPP38
reactome: R-HSA-6784531;R-HSA-6791226;
name: Ribonuclease P protein subunit p38 (RNaseP protein p38) (EC 3.1.26.5)
length: 283
go: ENSG00000152464;
snps: rs3814171 rs1052157 rs1132078 rs15772 rs12249258 rs10242 rs34040166
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000305}.
sequence:

opentargets:
fibrillar center [GO:0001650]; nucleolar ribonuclease P complex [GO:0005655]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonuclease P activity [GO:0004526]; tRNA processing [GO:0008033]


uniprotID: Q969S9
geneSymbol: GFM2
reactome: R-HSA-5419276;
length: 779
go: ENSG00000164347;
snps: rs957680 rs16872235 rs17852780 rs17856872 rs17856871 rs1048167
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03059}.
name:
Ribosome-releasing factor 2, mitochondrial (RRF2mt) (Elongation factor G 2, mitochondrial) (EF-G2mt) (mEF-G 2) (Elongation factor G2) (hEFG2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; translation elongation factor activity [GO:0003746]; mitochondrial translation [GO:0032543]; mitochondrial translational termination [GO:0070126]; ribosome disassembly [GO:0032790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q969S9-1; Sequence=Displayed; Name=2; IsoId=Q969S9-2; Sequence=VSP_001363; Note=No experimental confirmation available.; Name=3; IsoId=Q969S9-3; Sequence=VSP_038194; Note=No experimental confirmation available.; Name=4; IsoId=Q969S9-4; Sequence=VSP_038192, VSP_038193; Note=No experimental confirmation available.; Name=5; IsoId=Q969S9-5; Sequence=VSP_038190, VSP_038191; Note=No experimental confirmation available.; 


uniprotID: Q9Y3B9
geneSymbol: RRP15
name: RRP15-like protein (Ribosomal RNA-processing protein 15)
length: 282
go: ENSG00000067533;
opentargets: preribosome, large subunit precursor [GO:0030687]; rRNA processing [GO:0006364]
snps: rs34358288 rs11118075 rs3737978
sequence:


uniprotID: Q9NQL2
geneSymbol: RRAGD
reactome: R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-380972;R-HSA-5628897;R-HSA-8943724;
pdb: 2Q3F;
name: Ras-related GTP-binding protein D (Rag D) (RagD)
length: 400
go: ENSG00000025039;
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; EGO complex [GO:0034448]; Gtr1-Gtr2 GTPase complex [GO:1990131]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; GTPase binding [GO:0051020]; protein heterodimerization activity [GO:0046982]; cell cycle arrest [GO:0007050]; cellular protein localization [GO:0034613]; cellular response to amino acid stimulus [GO:0071230]; cellular response to leucine [GO:0071233]; cellular response to leucine starvation [GO:1990253]; cellular response to starvation [GO:0009267]; positive regulation of TOR signaling [GO:0032008]; positive regulation of TORC1 signaling [GO:1904263]; regulation of autophagy [GO:0010506]; regulation of macroautophagy [GO:0016241]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:11073942}; IsoId=Q9NQL2-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14574404}; IsoId=Q9NQL2-2; Sequence=VSP_052078; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11073942}. Nucleus {ECO:0000269|PubMed:11073942}. Lysosome {ECO:0000269|PubMed:20381137}. Note=Predominantly cytoplasmic. May shuttle between the cytoplasm and nucleus, depending on the bound nucleotide state of associated RRAGA (PubMed:11073942). {ECO:0000269|PubMed:11073942}.


uniprotID: Q96E11
geneSymbol: MRRF
reactome: R-HSA-5419276;
name: Ribosome-recycling factor, mitochondrial (RRF) (Ribosome-releasing factor, mitochondrial)
length: 262
go: ENSG00000148187;
snps: rs2297483
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ribosomal large subunit binding [GO:0043023]; mitochondrial translational termination [GO:0070126]; ribosome disassembly [GO:0032790]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q96E11-1; Sequence=Displayed; Name=2; IsoId=Q96E11-2; Sequence=VSP_013489, VSP_013490; Note=No experimental confirmation available.; Name=3; IsoId=Q96E11-3; Sequence=VSP_013483; Note=Derived from EST data. No experimental confirmation available.; Name=4; IsoId=Q96E11-4; Sequence=VSP_013484; Note=Derived from EST data. No experimental confirmation available.; Name=5; IsoId=Q96E11-5; Sequence=VSP_013486, VSP_013487; Note=Derived from EST data. No experimental confirmation available.; Name=6; IsoId=Q96E11-6; Sequence=VSP_013485, VSP_013488; Note=Derived from EST data. No experimental confirmation available.; Name=7; IsoId=Q96E11-7; Sequence=VSP_013483, VSP_013485, VSP_013488; Note=Derived from EST data. No experimental confirmation available.; Name=8; IsoId=Q96E11-8; Sequence=VSP_042019; Note=Derived from EST data. No experimental confirmation available.; 


uniprotID: Q9P2E9
geneSymbol: RRBP1
length: 1410
go: ENSG00000125844;
snps: rs1132274
name:
Ribosome-binding protein 1 (180 kDa ribosome receptor homolog) (RRp) (ES/130-related protein) (Ribosome receptor protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; ribosome [GO:0005840]; RNA binding [GO:0003723]; signaling receptor activity [GO:0038023]; osteoblast differentiation [GO:0001649]; protein transport [GO:0015031]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist. Additional isoforms may derive from alternative splicing in the repeat region. {ECO:0000269|PubMed:9628588}; Name=1; IsoId=Q9P2E9-1; Sequence=Displayed; Name=2; Synonyms=ES130; IsoId=Q9P2E9-3; Sequence=VSP_003949, VSP_003950; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}.


uniprotID: Q7L523
geneSymbol: RRAGA
reactome: R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-380972;R-HSA-5628897;R-HSA-8866654;R-HSA-8943724;
pdb: 5X6V;6CES;6EHR;
length: 313
go: ENSG00000155876;
name:
Ras-related GTP-binding protein A (Rag A) (RagA) (Adenovirus E3 14.7 kDa-interacting protein 1) (FIP-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; EGO complex [GO:0034448]; Gtr1-Gtr2 GTPase complex [GO:1990131]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; phosphoprotein binding [GO:0051219]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; ubiquitin protein ligase binding [GO:0031625]; apoptotic process [GO:0006915]; cell cycle arrest [GO:0007050]; cell death [GO:0008219]; cellular protein localization [GO:0034613]; cellular response to amino acid starvation [GO:0034198]; cellular response to amino acid stimulus [GO:0071230]; cellular response to starvation [GO:0009267]; modulation by virus of host morphology or physiology [GO:0019048]; negative regulation of autophagy [GO:0010507]; positive regulation of cytolysis [GO:0045919]; positive regulation of TOR signaling [GO:0032008]; positive regulation of TORC1 signaling [GO:1904263]; protein ubiquitination [GO:0016567]; regulation of autophagy [GO:0010506]; regulation of macroautophagy [GO:0016241]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8995684, ECO:0000269|PubMed:9394008}. Nucleus {ECO:0000269|PubMed:8995684, ECO:0000269|PubMed:9394008}. Lysosome {ECO:0000269|PubMed:20381137}. Note=Predominantly cytoplasmic. May shuttle between the cytoplasm and nucleus, depending on the bound nucleotide state (PubMed:8995684, PubMed:9394008). Colocalizes in vivo with adenovirus E3-14.7K mainly to the cytoplasm especially near the nuclear membrane and in discrete foci on or near the plasma membrane (PubMed:8995684). {ECO:0000269|PubMed:20381137, ECO:0000269|PubMed:8995684, ECO:0000269|PubMed:9394008}.


uniprotID: Q5VZM2
geneSymbol: RRAGB
reactome: R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-380972;R-HSA-5628897;R-HSA-8943724;
name: Ras-related GTP-binding protein B (Rag B) (RagB)
length: 374
go: ENSG00000083750;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; EGO complex [GO:0034448]; Gtr1-Gtr2 GTPase complex [GO:1990131]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; GTPase binding [GO:0051020]; guanyl ribonucleotide binding [GO:0032561]; protein heterodimerization activity [GO:0046982]; cell cycle arrest [GO:0007050]; cellular protein localization [GO:0034613]; cellular response to amino acid starvation [GO:0034198]; cellular response to amino acid stimulus [GO:0071230]; cellular response to leucine starvation [GO:1990253]; cellular response to starvation [GO:0009267]; positive regulation of TOR signaling [GO:0032008]; positive regulation of TORC1 signaling [GO:1904263]; regulation of autophagy [GO:0010506]; regulation of macroautophagy [GO:0016241]; regulation of TOR signaling [GO:0032006]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:7499430}; Synonyms=Long {ECO:0000269|PubMed:7499430}; IsoId=Q5VZM2-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:7499430, ECO:0000269|PubMed:9394008}; Synonyms=Short {ECO:0000269|PubMed:7499430}; IsoId=Q5VZM2-2; Sequence=VSP_052073; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9394008}. Lysosome {ECO:0000269|PubMed:20381137}.


uniprotID: Q5JTH9
geneSymbol: RRP12
name: RRP12-like protein
length: 1297
go: ENSG00000052749;
snps: rs2275580 rs1048445
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JTH9-1; Sequence=Displayed; Name=2; IsoId=Q5JTH9-2; Sequence=VSP_014798; Note=No experimental confirmation available.; Name=3; IsoId=Q5JTH9-3; Sequence=VSP_045674; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}. Nucleus membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q14684
geneSymbol: RRP1B
name: Ribosomal RNA processing protein 1 homolog B (RRP1-like protein B)
length: 758
go: ENSG00000160208;
snps: rs9306160
sequence:

opentargets:
cytosol [GO:0005829]; euchromatin [GO:0000791]; granular component [GO:0001652]; heterochromatin [GO:0000792]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; preribosome, large subunit precursor [GO:0030687]; preribosome, small subunit precursor [GO:0030688]; RNA binding [GO:0003723]; transcription coactivator activity [GO:0003713]; apoptotic process [GO:0006915]; cellular response to virus [GO:0098586]; mRNA processing [GO:0006397]; negative regulation of GTPase activity [GO:0034260]; negative regulation of phosphatase activity [GO:0010923]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of apoptotic process [GO:0043065]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of RNA splicing [GO:0043484]; RNA splicing [GO:0008380]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14684-1; Sequence=Displayed; Name=2; IsoId=Q14684-2; Sequence=VSP_007801; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:20040599, ECO:0000269|PubMed:20926688, ECO:0000269|PubMed:26311876}. Nucleus, nucleoplasm {ECO:0000269|PubMed:20926688}. Chromosome {ECO:0000269|PubMed:19710015}. Note=Predominantly located in the nucleolus with a small amount found in the nucleoplasm (PubMed:20926688). Associates with the perichromatin region during metaphase and with cytoplasmic foci during telophase before reaccumulation in the nucleolus during G2 (PubMed:20926688). Associates with heterochromatin and euchromatin (PubMed:19710015). {ECO:0000269|PubMed:19710015, ECO:0000269|PubMed:20926688}.; SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:26311876}. Note=(Microbial infection) Following infection by influenza A virus, partially translocates from the nucleolus to the nucleoplasm. {ECO:0000269|PubMed:26311876}.


uniprotID: P25398
geneSymbol: RPS12
pdb: 4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S12 (Small ribosomal subunit protein eS12)
length: 132
go: ENSG00000112306;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:
MAEEGIAAGGVMDVNTALQEVLKTALIHDGLARGIREAAKALDKRQAHLCVLASNCDEPMYVKLVEALCAEHQINLIKVDDNKKLGEWVGLCKIDREGKPRKVVGCSCVVVKDYGKESQAKDVIEEYFKCKK

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q9UGK8
geneSymbol: SERGEF
length: 458
go: ENSG00000129158;
snps: rs1528 rs10788
name:
Secretion-regulating guanine nucleotide exchange factor (Deafness locus-associated putative guanine nucleotide exchange factor) (DelGEF) (Guanine nucleotide exchange factor-related protein)

sequence:

opentargets:
aggresome [GO:0016235]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Ran guanyl-nucleotide exchange factor activity [GO:0005087]; negative regulation of protein secretion [GO:0050709]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=DelGEF1; IsoId=Q9UGK8-1; Sequence=Displayed; Name=2; Synonyms=DelGEF2; IsoId=Q9UGK8-2; Sequence=VSP_050614, VSP_050615; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10571079}. Nucleus {ECO:0000269|PubMed:10571079}.


uniprotID: P62263
geneSymbol: RPS14
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S14 (Small ribosomal subunit protein uS11)
length: 151
go: ENSG00000164587;
reactome:
R-HSA-156827;R-HSA-156902;R-HSA-1799339;R-HSA-192823;R-HSA-2408557;R-HSA-6790901;R-HSA-6791226;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;R-HSA-72764;R-HSA-9010553;R-HSA-975956;R-HSA-975957;

sequence:
MAPRKGKEKKEEQVISLGPQVAEGENVFGVCHIFASFNDTFVHVTDLSGKETICRVTGGMKVKADRDESSPYAAMLAAQDVAQRCKELGITALHIKLRATGGNRTKTPGPGAQSALRALARSGMKIGRIEDVTPIPSDSTRRKGGRRGRRL

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; postsynaptic density [GO:0014069]; mRNA 5'-UTR binding [GO:0048027]; RNA binding [GO:0003723]; small ribosomal subunit rRNA binding [GO:0070181]; structural constituent of ribosome [GO:0003735]; translation regulator activity [GO:0045182]; erythrocyte differentiation [GO:0030218]; maturation of SSU-rRNA [GO:0030490]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; ribosomal small subunit assembly [GO:0000028]; rRNA processing [GO:0006364]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: P22090
geneSymbol: RPS4Y1
pdb: 5AJ0;5FLX;
name: 40S ribosomal protein S4, Y isoform 1 (Small ribosomal subunit protein eS4)
length: 263
go: ENSG00000129824;
sequence:

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; polysome [GO:0005844]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; structural constituent of ribosome [GO:0003735]; multicellular organism development [GO:0007275]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q13315
geneSymbol: ATM
pdb: 5NP0;5NP1;
name: Serine-protein kinase ATM (EC 2.7.11.1) (Ataxia telangiectasia mutated) (A-T mutated)
length: 3056
go: ENSG00000149311;
drug: DB00201;
reactome:
R-HSA-2559586;R-HSA-3371453;R-HSA-349425;R-HSA-5685938;R-HSA-5685942;R-HSA-5693548;R-HSA-5693554;R-HSA-5693565;R-HSA-5693568;R-HSA-5693571;R-HSA-5693579;R-HSA-5693607;R-HSA-5693616;R-HSA-6796648;R-HSA-6803204;R-HSA-6803207;R-HSA-6804756;R-HSA-6804757;R-HSA-6804760;R-HSA-69473;R-HSA-69541;R-HSA-69601;R-HSA-912446;

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; DNA repair complex [GO:1990391]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA-dependent protein kinase activity [GO:0004677]; protein dimerization activity [GO:0046983]; protein N-terminus binding [GO:0047485]; protein serine/threonine kinase activity [GO:0004674]; protein-containing complex binding [GO:0044877]; cell cycle arrest [GO:0007050]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to gamma radiation [GO:0071480]; cellular response to nitrosative stress [GO:0071500]; cellular response to retinoic acid [GO:0071300]; cellular response to X-ray [GO:0071481]; DNA damage checkpoint [GO:0000077]; DNA damage induced protein phosphorylation [GO:0006975]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; DNA double-strand break processing [GO:0000729]; DNA replication [GO:0006260]; double-strand break repair via nonhomologous end joining [GO:0006303]; establishment of protein-containing complex localization to telomere [GO:0097695]; establishment of RNA localization to telomere [GO:0097694]; histone mRNA catabolic process [GO:0071044]; histone phosphorylation [GO:0016572]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of telomere capping [GO:1904354]; negative regulation of TORC1 signaling [GO:1904262]; peptidyl-serine autophosphorylation [GO:0036289]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell migration [GO:0030335]; positive regulation of DNA catabolic process [GO:1903626]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; positive regulation of gene expression [GO:0010628]; positive regulation of histone phosphorylation [GO:0033129]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of telomerase catalytic core complex assembly [GO:1904884]; positive regulation of telomere maintenance via telomerase [GO:0032212]; positive regulation of telomere maintenance via telomere lengthening [GO:1904358]; positive regulation of transcription by RNA polymerase II [GO:0045944]; pre-B cell allelic exclusion [GO:0002331]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; reciprocal meiotic recombination [GO:0007131]; regulation of apoptotic process [GO:0042981]; regulation of autophagy [GO:0010506]; regulation of cellular response to gamma radiation [GO:1905843]; regulation of cellular response to heat [GO:1900034]; regulation of microglial cell activation [GO:1903978]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of telomere maintenance via telomerase [GO:0032210]; replicative senescence [GO:0090399]; response to hypoxia [GO:0001666]; response to ionizing radiation [GO:0010212]; signal transduction [GO:0007165]; signal transduction involved in mitotic G2 DNA damage checkpoint [GO:0072434]; telomere maintenance [GO:0000723]

snps:
rs587779858 rs3218684 rs1800054 rs2234997 rs55633650 rs3218707 rs145053092 rs56123940 rs747727055 rs587781511 rs28904919 rs138398778 rs202160435 rs371713984 rs369203092 rs56128736 rs56365018 rs2235000 rs2227924 rs777301065 rs2235006 rs4986761 rs2235011 rs587778065 rs641252 rs3218695 rs1800056 rs3218673 rs55723361 rs35813135 rs3218708 rs3218688 rs786203054 rs3092857 rs568461905 rs1800057 rs3092841 rs35184530 rs144535256 rs3092856 rs55859590 rs1234250980 rs1800058 rs2229021 rs148993589 rs730881391 rs775047783 rs34640941 rs3092849 rs140856217 rs55870064 rs121434217 rs1800059 rs3092907 rs587779844 rs1801516 rs1801673 rs1060501688 rs56399311 rs659243 rs587782274 rs587781302 rs11212587 rs3218670 rs866290641 rs397514577 rs1800060 rs1064795467 rs564652222 rs567060474 rs1800061 rs56009889 rs4988111 rs3092831 rs876658517 rs370559102 rs730881315 rs121434221 rs28904921 rs147604227 rs587782310 rs55801750 rs876659365 rs56399857 rs28904920 rs267606668 rs4988125 rs121434218 rs745775382 rs876659735 rs3218680 rs55982963 rs876659619 rs748634900 rs876660927 rs121434216 rs938431501 rs587779872 rs879254065 rs587781353 rs780905851 rs55798854 rs587779874 rs786202826 rs1137889 rs876658767 rs587782292 rs587781894 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9050866, ECO:0000269|PubMed:9150358}. Cytoplasmic vesicle {ECO:0000269|PubMed:9050866, ECO:0000269|PubMed:9150358}. Note=Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin. {ECO:0000269|PubMed:9050866, ECO:0000269|PubMed:9150358}.


uniprotID: P18847
geneSymbol: ATF3
reactome: R-HSA-380994;
length: 181
go: ENSG00000162772;
drug: DB00852;
snps: rs11571541
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:12034827}.
name:
Cyclic AMP-dependent transcription factor ATF-3 (cAMP-dependent transcription factor ATF-3) (Activating transcription factor 3)

sequence:
MMLQHPGQVSASEVSASAIVPCLSPPGSLVFEDFANLTPFVKEELRFAIQNKHLCHRMSSALESVTVSDRPLGVSITKAEVAPEEDERKKRRRERNKIAAAKCRNKKKEKTECLQKESEKLESVNAELKAQIEELKNEKQHLIYMLNLHRPTCIVRAQNGRTPEDERNLFIQQIKEGTLQS

opentargets:
CHOP-ATF3 complex [GO:1990622]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; 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]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; cellular response to amino acid starvation [GO:0034198]; gluconeogenesis [GO:0006094]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of transcription by RNA polymerase II [GO:0000122]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of cell proliferation [GO:0008284]; positive regulation of TRAIL-activated apoptotic signaling pathway [GO:1903984]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990440]; regulation of transcription from RNA polymerase II promoter in response to arsenic-containing substance [GO:0061394]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=ATF3; IsoId=P18847-1; Sequence=Displayed; Name=2; Synonyms=ATF3-delta-Zip; IsoId=P18847-2; Sequence=VSP_000592; 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; Synonyms=ATF3-delta-Zip2a/TF3-delta-Zip2b; IsoId=P18847-3; Sequence=VSP_043150; Note=Stress-induced isoform, counteracts the transcriptional repression of isoform 1.; Name=4; Synonyms=ATF3-delta-Zip2c; IsoId=P18847-4; Sequence=VSP_043182, VSP_043150; Name=5; IsoId=P18847-5; Sequence=VSP_046966; 


uniprotID: Q6UY09
geneSymbol: CEACAM20
name: Carcinoembryonic antigen-related cell adhesion molecule 20
length: 596
go: ENSG00000273777;
snps: rs10408247 rs36053277 rs13345196 rs35443082 rs16959164 rs10414398 rs8100718
sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of membrane [GO:0016021]; microvillus membrane [GO:0031528]; immune system process [GO:0002376]; positive regulation of cytokine production [GO:0001819]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6UY09-1; Sequence=Displayed; Name=2; IsoId=Q6UY09-2; Sequence=VSP_059368; Name=3; IsoId=Q6UY09-3; Sequence=VSP_059367; Name=4; IsoId=Q6UY09-4; Sequence=VSP_059367, VSP_059368; Name=5; IsoId=Q6UY09-5; Sequence=VSP_059369; 

location:
SUBCELLULAR LOCATION: Cell projection, microvillus membrane {ECO:0000250|UniProtKB:Q9D2Z1}; Single-pass type I membrane protein {ECO:0000305}. Apical cell membrane {ECO:0000250|UniProtKB:Q9D2Z1}; Single-pass type I membrane protein {ECO:0000305}. Note=Colocalizes with PTPRH and CEACAM1 at the apical brush border of intestinal cells.


uniprotID: Q9P209
geneSymbol: CEP72
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Centrosomal protein of 72 kDa (Cep72)
length: 647
go: ENSG00000112877;
snps: rs869955 rs12522955 rs868649
sequence:

opentargets:
centriolar satellite [GO:0034451]; centrosome [GO:0005813]; cytosol [GO:0005829]; identical protein binding [GO:0042802]; centriole replication [GO:0007099]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; gamma-tubulin complex localization [GO:0033566]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of protein localization to centrosome [GO:1904779]; spindle organization [GO:0007051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P209-1; Sequence=Displayed; Name=2; IsoId=Q9P209-2; Sequence=VSP_037835, VSP_037836; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:19536135}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:26297806}. Note=Localizes to the centrosome and centrosome-surrounding particles throughout the cell cycle. These particles disappear after microtubules are depolymerized using nocodazole, suggesting that CEP72-associating particles localize in a microtubule- dependent manner.


uniprotID: Q96ST8
geneSymbol: CEP89
reactome: R-HSA-5620912;
length: 783
go: ENSG00000121289;
snps: rs3764633 rs4805825
name:
Centrosomal protein of 89 kDa (Cep89) (Centrosomal protein 123) (Cep123) (Coiled-coil domain-containing protein 123)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary transition fiber [GO:0097539]; cytosol [GO:0005829]; mitochondrial intermembrane space [GO:0005758]; motile cilium [GO:0031514]; non-motile cilium [GO:0097730]; plasma membrane [GO:0005886]; spindle pole [GO:0000922]; chemical synaptic transmission [GO:0007268]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; mitochondrion organization [GO:0007005]; non-motile cilium assembly [GO:1905515]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96ST8-1; Sequence=Displayed; Name=2; IsoId=Q96ST8-2; Sequence=VSP_039181; Note=No experimental confirmation available.; Name=3; IsoId=Q96ST8-3; Sequence=VSP_039182, VSP_039183; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Mitochondrion intermembrane space. Note=Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.


uniprotID: Q96GE4
geneSymbol: CEP95
name: Centrosomal protein of 95 kDa (Cep95) (Coiled-coil domain-containing protein 45)
length: 821
go: ENSG00000258890;
opentargets: centrosome [GO:0005813]; cytoplasm [GO:0005737]; spindle pole [GO:0000922]
snps: rs9910506 rs11550922
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96GE4-1; Sequence=Displayed; Name=2; IsoId=Q96GE4-2; Sequence=VSP_056356; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:21399614}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:21399614}.


uniprotID: Q49MI3
geneSymbol: CERKL
name: Ceramide kinase-like protein
length: 558
go: ENSG00000188452;
snps: rs569826109 rs10185262 rs35955809
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; NAD+ kinase activity [GO:0003951]; sphingolipid binding [GO:0046625]; negative regulation of apoptotic process [GO:0043066]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=b; IsoId=Q49MI3-1; Sequence=Displayed; Name=2; Synonyms=a; IsoId=Q49MI3-2; Sequence=VSP_016659; Name=3; Synonyms=d; IsoId=Q49MI3-3; Sequence=VSP_016656; Name=4; Synonyms=c; IsoId=Q49MI3-4; Sequence=VSP_016653; Name=5; IsoId=Q49MI3-5; Sequence=VSP_016659, VSP_016660; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=7; Synonyms=f; IsoId=Q49MI3-7; Sequence=VSP_016657, VSP_016658; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=8; Synonyms=e; IsoId=Q49MI3-8; Sequence=VSP_016654, VSP_016655; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=9; IsoId=Q49MI3-9; Sequence=VSP_042663; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum.


uniprotID: Q9UKY3
geneSymbol: CES1P1
length: 287
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Putative inactive carboxylesterase 4 (Inactive carboxylesterase 1 pseudogene 1) (Placental carboxylesterase 3) (PCE-3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; carboxylic ester hydrolase activity [GO:0052689]; sterol esterase activity [GO:0004771]; triglyceride lipase activity [GO:0004806]; anatomical structure morphogenesis [GO:0009653]; lipid catabolic process [GO:0016042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKY3-1; Sequence=Displayed; Name=2; IsoId=Q9UKY3-2; Sequence=VSP_029004; Note=No experimental confirmation available.; 


uniprotID: P41208
geneSymbol: CETN2
pdb: 1M39;1ZMZ;2A4J;2GGM;2K2I;2OBH;
name: Centrin-2 (Caltractin isoform 1)
length: 172
go: ENSG00000147400;
reactome:
R-HSA-2565942;R-HSA-3108214;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5696394;R-HSA-5696395;R-HSA-8854518;

sequence:
MASNFKKANMASSSQRKRMSPKPELTEEQKQEIREAFDLFDADGTGTIDVKELKVAMRALGFEPKKEEIKKMISEIDKEGTGKMNFGDFLTVMTQKMSEKDTKEEILKAFKLFDDDETGKISFKNLKRVAKELGENLTDEELQEMIDEADRDGDGEVSEQEFLRIMKKTSLY

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; photoreceptor connecting cilium [GO:0032391]; XPC complex [GO:0071942]; calcium ion binding [GO:0005509]; G-protein beta/gamma-subunit complex binding [GO:0031683]; heterotrimeric G-protein binding [GO:0032795]; microtubule binding [GO:0008017]; calcium-mediated signaling [GO:0019722]; centriole replication [GO:0007099]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; global genome nucleotide-excision repair [GO:0070911]; mitotic cell cycle [GO:0000278]; mitotic cytokinesis [GO:0000281]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; regulation of centrosome duplication [GO:0010824]; regulation of cytokinesis [GO:0032465]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus {ECO:0000305}. Note=Centrosome of S-phase, interphase and mitotic cells.


uniprotID: Q5SQH8
geneSymbol: C6orf136
name: Uncharacterized protein C6orf136
length: 315
go: ENSG00000204564;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5SQH8-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5SQH8-2; Sequence=VSP_014618; Note=No experimental confirmation available.; Name=3; IsoId=Q5SQH8-3; Sequence=VSP_014619; Note=No experimental confirmation available.; Name=4; IsoId=Q5SQH8-4; Sequence=VSP_046640; Note=No experimental confirmation available.; 


uniprotID: Q9H8X3
geneSymbol: LINC00574
name: Putative uncharacterized protein LINC00574
length: 128
snps: rs6926145 rs1078211 rs1078208
sequence:
MSLCSACTSPASHQLLLNCQGQTVAKSHSSADAGVSLVSGRWCAWWPEHCSESMFPSQHPVLSSNLADSSGQGRSPAGAHPALCPFHKSPWFPHFPQILPREWSWCGPERPAGCSLGLKAEAALVGKK


uniprotID: P0C7V0
geneSymbol: LINC00271
name: Putative uncharacterized protein encoded by LINC00271
length: 271
snps: rs13197384
sequence:


uniprotID: Q8N0U6
geneSymbol: LINC00518
name: Putative uncharacterized protein encoded by LINC00518
length: 118
snps: rs303061
sequence:
MDSSDETGSSFMSFWPHLQSDDLARNGITGFPYFSFIILNESDQILELDGTLVKIWLLVPSHQPATHFKFEETKTHGPYVITGDYPRSLWQKSASSLPASPPCLWYFLPTLGCFCDHT


uniprotID: O43822
geneSymbol: CFAP410
length: 256
go: ENSG00000160226;
name:
Cilia- and flagella-associated protein 410 (C21orf-HUMF09G8.5) (Leucine-rich repeat-containing protein 76) (YF5/A2)

sequence:

opentargets:
ciliary basal body [GO:0036064]; cilium [GO:0005929]; cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; motile cilium [GO:0031514]; photoreceptor connecting cilium [GO:0032391]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; cilium assembly [GO:0060271]; cytoskeleton organization [GO:0007010]; DNA damage response, detection of DNA damage [GO:0042769]; motile cilium assembly [GO:0044458]; regulation of cell shape [GO:0008360]

snps:
rs1057518441 rs140451304 rs1131690801 rs763623409 rs555164150 rs922930539 rs2277809 rs9306099 rs1114167892 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Long; IsoId=O43822-1; Sequence=Displayed; Name=Short; IsoId=O43822-2; Sequence=VSP_004138, VSP_004139; Name=3; IsoId=O43822-3; Sequence=VSP_047417; Name=4; IsoId=O43822-4; Sequence=VSP_047417, VSP_047418; Note=No experimental confirmation available. {ECO:0000244|PubMed:19369195}; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:9325172}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26167768, ECO:0000269|PubMed:26294103}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:27548899}. Cytoplasm {ECO:0000269|PubMed:26290490}. Note=Colocalizes with NEK1 and SPATA7 at the basal body. {ECO:0000269|PubMed:26167768}.


uniprotID: Q8NDM7
geneSymbol: CFAP43
name: Cilia- and flagella-associated protein 43 (WD repeat-containing protein 96)
length: 1665
go: ENSG00000197748;
opentargets: axoneme [GO:0005930]; motile cilium [GO:0031514]; sperm axoneme assembly [GO:0007288]
snps: rs10883979 rs35901897 rs17116635 rs12262825
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NDM7-1; Sequence=Displayed; Name=2; IsoId=Q8NDM7-2; Sequence=VSP_029374; Note=No experimental confirmation available.; Name=3; IsoId=Q8NDM7-3; Sequence=VSP_029372, VSP_029373; Note=No experimental confirmation available.; Name=4; IsoId=Q8NDM7-4; Sequence=VSP_029371; Note=No experimental confirmation available.; Name=5; IsoId=Q8NDM7-5; Sequence=VSP_029369, VSP_029370; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A8JAF2}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q57WH1}.


uniprotID: Q9UL16
geneSymbol: CFAP45
length: 551
go: ENSG00000213085;
opentargets: cilium [GO:0005929]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]
snps: rs16842789
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:A8I9E8}.
name:
Cilia- and flagella-associated protein 45 (Coiled-coil domain-containing protein 19) (Nasopharyngeal epithelium-specific protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UL16-1; Sequence=Displayed; Name=2; IsoId=Q9UL16-2; Sequence=VSP_056614; Note=No experimental confirmation available.; 


uniprotID: Q8IYW2
geneSymbol: CFAP46
name: Cilia- and flagella-associated protein 46 (Tetratricopeptide repeat protein 40)
length: 2715
go: ENSG00000171811;
snps: rs12781609 rs10870341 rs12356978 rs4880433 rs3750587 rs2254419 rs35981039
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8ICS9}.
sequence:

opentargets:
axoneme [GO:0005930]; axoneme assembly [GO:0035082]; cilium movement involved in cell motility [GO:0060294]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IYW2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8IYW2-2; Sequence=VSP_042257, VSP_042258; Note=No experimental confirmation available.; Name=3; IsoId=Q8IYW2-3; Sequence=VSP_042255, VSP_042256; Note=No experimental confirmation available.; 


uniprotID: Q6ZTR5
geneSymbol: CFAP47
name: Cilia- and flagella-associated protein 47
length: 3187
go: ENSG00000165164;
snps: rs2336029 rs6632427 rs11795910 rs17852470 rs6629027
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=5; IsoId=Q6ZTR5-5; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data. {ECO:0000305}; Name=1; IsoId=Q6ZTR5-1; Sequence=VSP_057885, VSP_057886; Note=No experimental confirmation available. {ECO:0000269|PubMed:14702039}; Name=2; IsoId=Q6ZTR5-2; Sequence=VSP_014372, VSP_014373; Note=No experimental confirmation available. {ECO:0000305|PubMed:15489334}; Name=6; IsoId=Q6ZTR5-6; Sequence=VSP_059490, VSP_059491; Note=No experimental confirmation available. {ECO:0000305|PubMed:14702039, ECO:0000305|PubMed:15489334}; 


uniprotID: Q8NHU2
geneSymbol: CFAP61
name: Cilia- and flagella-associated protein 61
length: 1237
go: ENSG00000089101;
snps: rs17852602 rs6075614 rs6081901 rs6075628 rs7344530 rs6081930 rs6046740
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8IF44}.
sequence:

opentargets:
axoneme [GO:0005930]; motile cilium [GO:0031514]; cilium movement [GO:0003341]; cilium organization [GO:0044782]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q8NHU2-1; Sequence=Displayed; Name=3; IsoId=Q8NHU2-3; Sequence=VSP_003799, VSP_003800; Name=4; IsoId=Q8NHU2-4; Sequence=VSP_003798; Name=5; IsoId=Q8NHU2-5; Sequence=VSP_003802, VSP_003803, VSP_003804; Note=Created from a fragment entry and may await further characterization.; Name=6; IsoId=Q8NHU2-6; Sequence=VSP_003802, VSP_013682, VSP_013683; 


uniprotID: Q6ZQR2
geneSymbol: CFAP77
name: Cilia- and flagella-associated protein 77
length: 320
go: ENSG00000188523;
opentargets: cilium [GO:0005929]
snps: rs7047726 rs149346027 rs11243798 rs34650498
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:A8IB22}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZQR2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6ZQR2-2; Sequence=VSP_032507; Note=No experimental confirmation available.; 


uniprotID: P08603
geneSymbol: CFH
reactome: R-HSA-977606;
name: Complement factor H (H factor 1)
length: 1231
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1FHC;1HAQ;1HCC;1HFH;1HFI;1KOV;2BZM;2G7I;2IC4;2JGW;2JGX;2KMS;2QFG;2QFH;2RLP;2RLQ;2UWN;2V8E;2W80;2W81;2WII;2XQW;3GAU;3GAV;3GAW;3KXV;3KZJ;3OXU;3R62;3RJ3;3SW0;4AYD;4AYE;4AYI;4AYM;4B2R;4B2S;4J38;4K12;4ONT;4ZH1;5NBQ;5O32;5O35;5WTB;

sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; heparan sulfate proteoglycan binding [GO:0043395]; heparin binding [GO:0008201]; complement activation [GO:0006956]; complement activation, alternative pathway [GO:0006957]; regulation of complement activation [GO:0030449]; viral process [GO:0016032]

snps:
rs800292 rs1061170 rs1061171 rs35453854 rs515299 rs1065489 rs149474608 rs145975787 rs17575212 rs534399 rs11539862 rs34362004 rs35274867 rs35343172 rs15809 rs460897 rs460184 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08603-1; Sequence=Displayed; Name=2; Synonyms=FHL-1; IsoId=P08603-2; Sequence=VSP_001190, VSP_001191; 


uniprotID: P05156
geneSymbol: CFI
reactome: R-HSA-977606;
pdb: 2XRC;5O32;
length: 583
go: ENSG00000205403;
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
name:
Complement factor I (EC 3.4.21.45) (C3B/C4B inactivator) [Cleaved into: Complement factor I heavy chain; Complement factor I light chain]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; metal ion binding [GO:0046872]; scavenger receptor activity [GO:0005044]; serine-type endopeptidase activity [GO:0004252]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; regulation of complement activation [GO:0030449]

snps:
rs773187287 rs141853578 rs75612300 rs121964916 rs182078921 rs11098044 rs121964917 rs769419740 rs61733901 rs121964912 rs121964918 rs121964914 


uniprotID: P0CG37
geneSymbol: CFC1
reactome: R-HSA-1181150;R-HSA-1433617;
name: Cryptic protein (Cryptic family protein 1)
length: 223
go: ENSG00000136698;
snps: rs2579433 rs104893611 rs1350439781
sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; activin receptor binding [GO:0070697]; nodal binding [GO:0038100]; signaling receptor binding [GO:0005102]; anatomical structure development [GO:0048856]; anterior/posterior pattern specification [GO:0009952]; BMP signaling pathway [GO:0030509]; determination of left/right symmetry [GO:0007368]; gastrulation [GO:0007369]; heart development [GO:0007507]; nodal signaling pathway [GO:0038092]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18930707}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:18930707}. Secreted {ECO:0000269|PubMed:18930707}. Note=Does not exhibit a typical GPI-signal sequence. The C-ter hydrophilic extension of the GPI-signal sequence reduces the efficiency of processing and could lead to the production of an secreted unprocessed form. This extension is found only in primates.


uniprotID: Q8N865
geneSymbol: C7orf31
name: Uncharacterized protein C7orf31
length: 590
go: ENSG00000153790;
opentargets: centrosome [GO:0005813]; cytoplasm [GO:0005737]
sequence:

snps:
rs11980216 rs2717858 rs3213642 rs17855102 rs12535348 rs2523072 rs11984293 rs17150982 rs2285738 rs17857512 

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


uniprotID: Q6ZP68
geneSymbol: ATP11AUN
name: Putative protein ATP11AUN (Putative ATP11A upstream neighbor protein)
length: 121
sequence:
MNSPEARLCVAQCRDSYPGCQPLKDTRAWASSLKMDPAGLEGGPRDESRDEPPIRAQAASWDQPQGCLTYKGRRSASGTQKQLQLPDTLSSLLCWRGAIMVYIKVTVQTDDSNKLLSLLYR


uniprotID: A4D0T2
geneSymbol: C7orf66
name: Uncharacterized protein C7orf66
length: 115
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MMAVMTPSDGLSQLSVPHLTHQRLWSLSCLAMLFQAVLILSAPQMSCLLKCFYALDPLHPVMSEEFSAQYRHMMDQRYRTRIHEGYISQVKGAYLRIVHKKPISYAKSFPKEMGN


uniprotID: Q9H7B7
geneSymbol: C7orf69
name: Uncharacterized protein C7orf69
length: 122
opentargets: extracellular region [GO:0005576]
snps: rs9719534
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MGFHFCIWIIFLLPPPCKKCLSPPTMNLRPPKSCGNVFYWVLVLNSGLLYKFCQTIKCRANWRPARAPRGWNEATERHQERRTQMETEMGGISTTYWHRLCTCTDRRAEKLVMDGNNCWFHK


uniprotID: A4D174
geneSymbol: C7orf71
name: Putative uncharacterized protein C7orf71
length: 169
sequence:
MGSCGWALTQSDWCPFKKRKRHQRCAHSETRHMRTQRQGGYLQARERGLGEANPAYALILDFQPPELQNLSEMGINHELGYSSIIPMMKRAFSACGTLGLIMSGIFDNPGPIKNTLKKAFTMLWSFTVYTRLESLRVALSNEEMVPFIFHLKTQTANMLSGPISTPMLL


uniprotID: O75882
geneSymbol: ATRN
name: Attractin (DPPT-L) (Mahogany homolog)
length: 1429
go: ENSG00000088812;
snps: rs6107308 rs17782078 rs3886999 rs12329487
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; signaling receptor activity [GO:0038023]; cerebellum development [GO:0021549]; inflammatory response [GO:0006954]; myelination [GO:0042552]; pigmentation [GO:0043473]; regulation of multicellular organism growth [GO:0040014]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Membrane; IsoId=O75882-1; Sequence=Displayed; Name=2; Synonyms=Secreted; IsoId=O75882-2; Sequence=VSP_001375; Name=3; IsoId=O75882-3; Sequence=VSP_001372, VSP_001375; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:7539799}; Single-pass type I membrane protein {ECO:0000269|PubMed:7539799}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:7539799, ECO:0000269|PubMed:9736737}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000269|PubMed:7539799}.


uniprotID: Q9H324
geneSymbol: ADAMTS10
reactome: R-HSA-5083635;R-HSA-5173214;
length: 1103
go: ENSG00000142303;
snps: rs3814291 rs7255721
name:
A disintegrin and metalloproteinase with thrombospondin motifs 10 (ADAM-TS 10) (ADAM-TS10) (ADAMTS-10) (EC 3.4.24.-)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; microfibril [GO:0001527]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H324-1; Sequence=Displayed; Name=2; IsoId=Q9H324-2; Sequence=VSP_054707; Note=No experimental confirmation available. Gene prediction based on partial mRNA and EST data.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:21402694}.


uniprotID: Q9UBB4
geneSymbol: ATXN10
name: Ataxin-10 (Brain protein E46 homolog) (Spinocerebellar ataxia type 10 protein)
length: 475
go: ENSG00000130638;
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:16498633}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular space [GO:0005615]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; cilium assembly [GO:0060271]; nervous system development [GO:0007399]; neuron projection development [GO:0031175]; protein homotrimerization [GO:0070207]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBB4-1; Sequence=Displayed; Name=2; IsoId=Q9UBB4-2; Sequence=VSP_042526; Note=No experimental confirmation available.; 


uniprotID: Q9UNA0
geneSymbol: ADAMTS5
reactome: R-HSA-1474228;R-HSA-5083635;R-HSA-5173214;
pdb: 2RJQ;3B8Z;3HY7;3HY9;3HYG;3LJT;
length: 930
go: ENSG00000154736;
drug: DB03880;DB06945;
snps: rs457947 rs2830585 rs226794
name:
A disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAM-TS 5) (ADAM-TS5) (ADAMTS-5) (EC 3.4.24.-) (A disintegrin and metalloproteinase with thrombospondin motifs 11) (ADAM-TS 11) (ADAMTS-11) (ADMP-2) (Aggrecanase-2)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix binding [GO:0050840]; heparin binding [GO:0008201]; integrin binding [GO:0005178]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; defense response to bacterium [GO:0042742]; extracellular matrix disassembly [GO:0022617]; negative regulation of cold-induced thermogenesis [GO:0120163]; proteolysis [GO:0006508]; tooth eruption [GO:0044691]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:18992360}.


uniprotID: Q13825
geneSymbol: AUH
reactome: R-HSA-70895;
pdb: 1HZD;2ZQQ;2ZQR;
length: 339
go: ENSG00000148090;
snps: rs769894315
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q9JLZ3}.
name:
Methylglutaconyl-CoA hydratase, mitochondrial (EC 4.2.1.18) (AU-specific RNA-binding enoyl-CoA hydratase) (AU-binding protein/enoyl-CoA hydratase) (Itaconyl-CoA hydratase) (EC 4.2.1.56)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; enoyl-CoA hydratase activity [GO:0004300]; itaconyl-CoA hydratase activity [GO:0050011]; methylglutaconyl-CoA hydratase activity [GO:0004490]; mRNA 3'-UTR binding [GO:0003730]; branched-chain amino acid catabolic process [GO:0009083]; fatty acid beta-oxidation [GO:0006635]; leucine catabolic process [GO:0006552]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13825-1; Sequence=Displayed; Name=2; IsoId=Q13825-2; Sequence=VSP_008336; Note=No experimental confirmation available.; 


uniprotID: P54252
geneSymbol: ATXN3
reactome: R-HSA-5689877;
pdb: 1YZB;2AGA;2DOS;2JRI;2KLZ;4WTH;4YS9;
name: Ataxin-3 (EC 3.4.19.12) (Machado-Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein)
length: 361
go: ENSG00000066427;
snps: rs1048755
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; nuclear inclusion body [GO:0042405]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATPase binding [GO:0051117]; histone deacetylase activity [GO:0004407]; identical protein binding [GO:0042802]; Lys48-specific deubiquitinase activity [GO:1990380]; Lys63-specific deubiquitinase activity [GO:0061578]; RNA polymerase II regulatory region DNA binding [GO:0001012]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; ubiquitin protein ligase binding [GO:0031625]; actin cytoskeleton organization [GO:0030036]; cellular response to heat [GO:0034605]; cellular response to misfolded protein [GO:0071218]; chemical synaptic transmission [GO:0007268]; exploration behavior [GO:0035640]; histone H3 deacetylation [GO:0070932]; intermediate filament cytoskeleton organization [GO:0045104]; microtubule cytoskeleton organization [GO:0000226]; monoubiquitinated protein deubiquitination [GO:0035520]; nervous system development [GO:0007399]; nucleotide-excision repair [GO:0006289]; positive regulation of ERAD pathway [GO:1904294]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]; protein localization to cytosolic proteasome complex involved in ERAD pathway [GO:1904379]; protein quality control for misfolded or incompletely synthesized proteins [GO:0006515]; regulation of cell-substrate adhesion [GO:0010810]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; IsoId=P54252-2; Sequence=Displayed; Name=1; IsoId=P54252-1; Sequence=VSP_002784; Name=3; IsoId=P54252-3; Sequence=VSP_002783; Name=4; IsoId=P54252-4; Sequence=VSP_047086; Note=Gene prediction based on EST data.; Name=5; IsoId=P54252-5; Sequence=VSP_047085; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000269|PubMed:9580663}. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix.


uniprotID: Q9UQB9
geneSymbol: AURKC
length: 309
go: ENSG00000105146;
name:
Aurora kinase C (EC 2.7.11.1) (Aurora 3) (Aurora/IPL1-related kinase 3) (ARK-3) (Aurora-related kinase 3) (Aurora/IPL1/Eg2 protein 2) (Serine/threonine-protein kinase 13) (Serine/threonine-protein kinase aurora-C)

sequence:

opentargets:
chromosome passenger complex [GO:0032133]; condensed chromosome [GO:0000793]; condensed nuclear chromosome, centromeric region [GO:0000780]; cytoplasm [GO:0005737]; midbody [GO:0030496]; spindle [GO:0005819]; spindle microtubule [GO:0005876]; spindle midzone [GO:0051233]; spindle pole centrosome [GO:0031616]; ATP binding [GO:0005524]; histone serine kinase activity [GO:0035174]; protein kinase activity [GO:0004672]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; attachment of spindle microtubules to kinetochore [GO:0008608]; cell division [GO:0051301]; histone modification [GO:0016570]; meiotic cell cycle [GO:0051321]; mitotic spindle midzone assembly [GO:0051256]; mitotic spindle organization [GO:0007052]; oocyte development [GO:0048599]; positive regulation of cytokinesis [GO:0032467]; protein phosphorylation [GO:0006468]; regulation of cytokinesis [GO:0032465]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UQB9-1; Sequence=Displayed; Name=2; IsoId=Q9UQB9-2; Sequence=VSP_004872; Name=3; Synonyms=Aurora C-SV; IsoId=Q9UQB9-3; Sequence=VSP_041095; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Chromosome, centromere {ECO:0000269|PubMed:27332895}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15938719}. Note=Distributes in the condensed chromosomes during prophase to metaphase. After entering anaphase, there is a dissociation from separated chromosomes and a redistribution to midzone microtubules, and finally remains in the midbody during cytokinesis. {ECO:0000269|PubMed:21531210}.


uniprotID: Q5T686
geneSymbol: AVPI1
name: Arginine vasopressin-induced protein 1 (AVP-induced protein 1)
length: 147
go: ENSG00000119986;
opentargets: activation of MAPK activity [GO:0000187]; cell cycle [GO:0007049]
snps: rs2275047
sequence:
MGTPASVVSEPPPWQAPIEARGRKQASANIFQDAELLQIQALFQRSGDQLAEERAQIIWECAGDHRVAEALKRLRRKRPPRQKPLGHSLHHCSRLRILEPHSALANPQSATETASSEQYLHSRKKSARIRRNWRKSGPTSYLHQIRH


uniprotID: Q58HT5
geneSymbol: AWAT1
reactome: R-HSA-2142753;R-HSA-8848584;
length: 328
go: ENSG00000204195;
name:
Acyl-CoA wax alcohol acyltransferase 1 (EC 2.3.1.75) (Diacylglycerol O-acyltransferase 2-like protein 3) (Diacylglycerol acyltransferase 2) (Long-chain-alcohol O-fatty-acyltransferase 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; arachidoyl-CoA:1-dodecanol O-acyltransferase activity [GO:0102966]; long-chain-alcohol O-fatty-acyltransferase activity [GO:0047196]; wax ester synthase activity [GO:0103095]; arachidonic acid metabolic process [GO:0019369]; wax biosynthetic process [GO:0010025]


uniprotID: Q6E213
geneSymbol: AWAT2
reactome: R-HSA-1482883;R-HSA-2187335;R-HSA-8848584;
length: 333
go: ENSG00000147160;
name:
Acyl-CoA wax alcohol acyltransferase 2 (EC 2.3.1.75) (Acyl-CoA retinol O-fatty-acyltransferase) (ARAT) (Retinol O-fatty-acyltransferase) (EC 2.3.1.76) (Diacylglycerol O-acyltransferase 2-like protein 4) (Diacylglycerol O-acyltransferase candidate 4) (hDC4) (Long-chain-alcohol O-fatty-acyltransferase 2) (Multifunctional O-acyltransferase) (Wax synthase) (hWS)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 2-acylglycerol O-acyltransferase activity [GO:0003846]; arachidoyl-CoA:1-dodecanol O-acyltransferase activity [GO:0102966]; long-chain-alcohol O-fatty-acyltransferase activity [GO:0047196]; retinol O-fatty-acyltransferase activity [GO:0050252]; wax ester synthase activity [GO:0103095]; acylglycerol acyl-chain remodeling [GO:0036155]; retinoid metabolic process [GO:0001523]; wax biosynthetic process [GO:0010025]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15220349}; Multi-pass membrane protein {ECO:0000269|PubMed:15220349}.


uniprotID: A6NMY6
geneSymbol: ANXA2P2
name: Putative annexin A2-like protein (Annexin A2 pseudogene 2) (Lipocortin II pseudogene)
length: 339
sequence:

opentargets:
basement membrane [GO:0005604]; extracellular exosome [GO:0070062]; melanosome [GO:0042470]; bone sialoprotein binding [GO:0044730]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; cytoskeletal protein binding [GO:0008092]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; phospholipase A2 inhibitor activity [GO:0019834]; protease binding [GO:0002020]; Rab GTPase binding [GO:0017137]; S100 protein binding [GO:0044548]; virion binding [GO:0046790]; voltage-gated calcium channel activity involved in regulation of cytosolic calcium levels [GO:0099511]; angiogenesis [GO:0001525]; biomineral tissue development [GO:0031214]; catabolism by host of symbiont protein [GO:0052362]; collagen fibril organization [GO:0030199]; endocardial cell differentiation [GO:0060956]; fibrinolysis [GO:0042730]; growth plate cartilage development [GO:0003417]; membrane raft assembly [GO:0001765]; negative regulation by host of symbiont molecular function [GO:0052405]; negative regulation of development of symbiont involved in interaction with host [GO:0044147]; negative regulation of low-density lipoprotein particle receptor catabolic process [GO:0032804]; osteoclast development [GO:0036035]; positive regulation by host of viral process [GO:0044794]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of low-density lipoprotein particle clearance [GO:1905581]; positive regulation of low-density lipoprotein particle receptor binding [GO:1905597]; positive regulation of low-density lipoprotein receptor activity [GO:1905599]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of receptor recycling [GO:0001921]; positive regulation of receptor-mediated endocytosis involved in cholesterol transport [GO:1905602]; positive regulation of vesicle fusion [GO:0031340]; positive regulation of viral life cycle [GO:1903902]; protein heterotetramerization [GO:0051290]; protein localization to plasma membrane [GO:0072659]; regulation of plasminogen activation [GO:0010755]; vesicle budding from membrane [GO:0006900]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250}. Melanosome {ECO:0000250}. Note=In the lamina beneath the plasma membrane. In melanosome fractions from stage I to stage IV. Translocated from the cytoplasm to the cell surface through a Golgi-independent mechanism. {ECO:0000250}.


uniprotID: Q5VT79
geneSymbol: ANXA8L1
name: Annexin A8-like protein 1
length: 327
go: ENSG00000264230;
snps: rs3013886 rs977788
sequence:

opentargets:
intracellular [GO:0005622]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; endosomal transport [GO:0016197]; endosome organization [GO:0007032]; negative regulation of phospholipase A2 activity [GO:1900138]; negative regulation of serine-type endopeptidase activity [GO:1900004]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15164054}; IsoId=Q5VT79-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:15164054, ECO:0000269|PubMed:15489334}; IsoId=Q5VT79-2; Sequence=VSP_052782, VSP_052783, VSP_052784; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9H6S1
geneSymbol: AZI2
pdb: 5EP6;
length: 392
go: ENSG00000163512;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14560022}.
name:
5-azacytidine-induced protein 2 (NF-kappa-B-activating kinase-associated protein 1) (Nak-associated protein 1) (TILP)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendritic cell differentiation [GO:0097028]; dendritic cell proliferation [GO:0044565]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; interferon-alpha production [GO:0032607]; interferon-gamma production [GO:0032609]; interleukin-6 production [GO:0032635]; mitotic cell cycle [GO:0000278]; T cell activation [GO:0042110]; tumor necrosis factor production [GO:0032640]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=Q9H6S1-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9H6S1-3; Sequence=VSP_023817, VSP_023818; Name=3; IsoId=Q9H6S1-4; Sequence=VSP_047087, VSP_047090; Note=Gene prediction based on EST data.; Name=4; IsoId=Q9H6S1-5; Sequence=VSP_047088, VSP_047089; Note=Gene prediction based on EST data.; 


uniprotID: O14977
geneSymbol: AZIN1
reactome: R-HSA-350562;
pdb: 4ZGZ;
name: Antizyme inhibitor 1 (AZI) (AZI1) (Ornithine decarboxylase antizyme inhibitor)
length: 448
go: ENSG00000155096;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O35484}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ornithine decarboxylase activator activity [GO:0042978]; ornithine decarboxylase activity [GO:0004586]; negative regulation of protein catabolic process [GO:0042177]; positive regulation of polyamine transmembrane transport [GO:1902269]; putrescine biosynthetic process from ornithine [GO:0033387]; regulation of cellular amino acid metabolic process [GO:0006521]


uniprotID: O14867
geneSymbol: BACH1
pdb: 2IHC;
name: Transcription regulator protein BACH1 (BTB and CNC homolog 1) (HA2303)
length: 736
go: ENSG00000156273;
snps: rs35474725
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:24035498}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001206]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; heme binding [GO:0020037]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; DNA repair [GO:0006281]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; regulation of transcription involved in G2/M transition of mitotic cell cycle [GO:0000117]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q9BYV9
geneSymbol: BACH2
pdb: 3OHU;3OHV;
name: Transcription regulator protein BACH2 (BTB and CNC homolog 2)
length: 841
go: ENSG00000112182;
snps: rs34335140
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001206]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; import into nucleus [GO:0051170]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17018862}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:17018862}. Note=Nucleocytoplasmic shuttling is controlled by phosphorylation. {ECO:0000269|PubMed:17018862}.


uniprotID: Q6ZUV0
geneSymbol: ACOT7L
reactome: R-HSA-77289;
length: 252
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Putative cytosolic acyl coenzyme A thioester hydrolase-like (EC 3.1.2.2) (Acyl-CoA thioesterase 7-like)

sequence:

opentargets:
cytosol [GO:0005829]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; fatty-acyl-CoA binding [GO:0000062]; long-chain fatty acyl-CoA binding [GO:0036042]; myristoyl-CoA hydrolase activity [GO:0102991]; palmitoyl-CoA hydrolase activity [GO:0016290]; protein homodimerization activity [GO:0042803]; acyl-CoA metabolic process [GO:0006637]; coenzyme A biosynthetic process [GO:0015937]; fatty acid catabolic process [GO:0009062]; long-chain fatty-acyl-CoA catabolic process [GO:0036116]; medium-chain fatty acid biosynthetic process [GO:0051792]; medium-chain fatty-acyl-CoA catabolic process [GO:0036114]; palmitic acid biosynthetic process [GO:1900535]


uniprotID: O94812
geneSymbol: BAIAP3
name: BAI1-associated protein 3 (BAP3) (Brain-specific angiogenesis inhibitor I-associated protein 3)
length: 1187
go: ENSG00000007516;
snps: rs1132356 rs36074509
sequence:

opentargets:
cytosol [GO:0005829]; late endosome membrane [GO:0031902]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; recycling endosome membrane [GO:0055038]; trans-Golgi network membrane [GO:0032588]; calcium ion binding [GO:0005509]; phospholipid binding [GO:0005543]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; dense core granule maturation [GO:1990502]; exocytosis [GO:0006887]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of neurotransmitter secretion [GO:0001956]; regulation of dense core granule exocytosis [GO:1905413]; regulation of synaptic transmission, GABAergic [GO:0032228]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O94812-1; Sequence=Displayed; Name=2; IsoId=O94812-2; Sequence=VSP_019231, VSP_019232; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=O94812-3; Sequence=VSP_019231, VSP_044673; Note=No experimental confirmation available.; Name=4; IsoId=O94812-5; Sequence=VSP_019231, VSP_047000; Note=No experimental confirmation available.; Name=5; IsoId=O94812-6; Sequence=VSP_019231; Note=No experimental confirmation available.; Name=6; IsoId=O94812-7; Sequence=VSP_019231, VSP_047001; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:28626000}. Recycling endosome membrane {ECO:0000269|PubMed:28626000}; Peripheral membrane protein {ECO:0000305|PubMed:28626000}. Late endosome membrane {ECO:0000269|PubMed:28626000}; Peripheral membrane protein {ECO:0000305|PubMed:28626000}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:28626000}; Peripheral membrane protein {ECO:0000305|PubMed:28626000}. Cell membrane {ECO:0000269|PubMed:28626000}; Peripheral membrane protein {ECO:0000305|PubMed:28626000}. Note=Rapidly recruited to the plasma membrane and to Golgi structures in response to increased intracellular calcium concentration. {ECO:0000269|PubMed:28626000}.


uniprotID: Q6ZNE5
geneSymbol: ATG14
reactome: R-HSA-1632852;
length: 492
go: ENSG00000126775;
snps: rs57295720 rs17675076
name:
Beclin 1-associated autophagy-related key regulator (Barkor) (Autophagy-related protein 14-like protein) (Atg14L)

sequence:

opentargets:
autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; axoneme [GO:0005930]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extrinsic component of omegasome membrane [GO:0097629]; extrinsic component of phagophore assembly site membrane [GO:0097632]; Mitochondria-associated ER Membrane [GO:0044233]; phagocytic vesicle [GO:0045335]; phagophore assembly site membrane [GO:0034045]; phosphatidylinositol 3-kinase complex, class III [GO:0035032]; GTPase binding [GO:0051020]; autophagosome assembly [GO:0000045]; autophagosome membrane docking [GO:0016240]; cellular response to glucose starvation [GO:0042149]; cellular response to starvation [GO:0009267]; endosome to lysosome transport [GO:0008333]; macroautophagy [GO:0016236]; mitophagy [GO:0000423]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of protein phosphorylation [GO:0001934]; posttranscriptional regulation of gene expression [GO:0010608]; regulation of protein complex stability [GO:0061635]; regulation of protein phosphorylation [GO:0001932]; regulation of triglyceride metabolic process [GO:0090207]; response to mitochondrial depolarisation [GO:0098780]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZNE5-1; Sequence=Displayed; Name=2; IsoId=Q6ZNE5-2; Sequence=VSP_013931; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19050071}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:19270696, ECO:0000269|PubMed:20713597}; Peripheral membrane protein {ECO:0000305}. Preautophagosomal structure membrane {ECO:0000269|PubMed:18843052, ECO:0000269|PubMed:19050071, ECO:0000269|PubMed:19270696, ECO:0000269|PubMed:22314358}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:19270696, ECO:0000269|PubMed:25686604}; Peripheral membrane protein {ECO:0000305}. Note=Cytosolic under nutrient-rich conditions (PubMed:19050071). Following autophagy stimuli, such as starvation or rapamycin induction, predominantly detected in cytoplasmic foci, identified as isolation membranes and autophagosomes (PubMed:19050071). Accumulates on highly curved PtdIns(3)P enriched autophagic membrane via its BATS domain to sense and maintain membrane curvature (By similarity). Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme (By similarity). {ECO:0000250|UniProtKB:Q8CDJ3}.


uniprotID: Q70JA7
geneSymbol: CHSY3
reactome: R-HSA-2022870;
length: 882
go: ENSG00000198108;
snps: rs10068403 rs2015018
name:
Chondroitin sulfate synthase 3 (EC 2.4.1.175) (EC 2.4.1.226) (Carbohydrate synthase 2) (Chondroitin glucuronyltransferase 3) (Chondroitin synthase 2) (ChSy-2) (Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II) (N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3) (N-acetylgalactosaminyltransferase 3)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity [GO:0047238]; metal ion binding [GO:0046872]; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity [GO:0050510]; chondroitin sulfate biosynthetic process [GO:0030206]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000305|PubMed:12907687}; Single-pass type II membrane protein {ECO:0000305|PubMed:12907687}.


uniprotID: O43916
geneSymbol: CHST1
reactome: R-HSA-2022854;
length: 411
go: ENSG00000175264;
name:
Carbohydrate sulfotransferase 1 (EC 2.8.2.21) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1) (GST-1) (Keratan sulfate Gal-6 sulfotransferase) (KS6ST) (KSGal6ST) (KSST)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; trans-Golgi network [GO:0005802]; keratan sulfotransferase activity [GO:0045130]; N-acetylglucosamine 6-O-sulfotransferase activity [GO:0001517]; sulfotransferase activity [GO:0008146]; galactose metabolic process [GO:0006012]; inflammatory response [GO:0006954]; keratan sulfate biosynthetic process [GO:0018146]; keratan sulfate metabolic process [GO:0042339]; N-acetylglucosamine metabolic process [GO:0006044]; polysaccharide metabolic process [GO:0005976]; sulfur compound metabolic process [GO:0006790]


uniprotID: Q8N9N5
geneSymbol: BANP
reactome: R-HSA-6804759;
length: 519
go: ENSG00000172530;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16166625}.
name:
Protein BANP (BEN domain-containing protein 1) (Btg3-associated nuclear protein) (Scaffold/matrix-associated region-1-binding protein)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; p53 binding [GO:0002039]; cell cycle [GO:0007049]; chromatin organization [GO:0006325]; multicellular organism development [GO:0007275]; negative regulation of protein catabolic process [GO:0042177]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization to nucleus [GO:0034504]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q8N9N5-1; Sequence=Displayed; Name=2; IsoId=Q8N9N5-2; Sequence=VSP_027399, VSP_027400, VSP_027401, VSP_027402; Name=3; IsoId=Q8N9N5-3; Sequence=VSP_027396, VSP_027398, VSP_027399, VSP_027400, VSP_027402; Note=No experimental confirmation available.; Name=4; IsoId=Q8N9N5-4; Sequence=VSP_027399, VSP_027400, VSP_027401; Name=5; IsoId=Q8N9N5-5; Sequence=VSP_043558, VSP_027399, VSP_027400, VSP_027401; Note=No experimental confirmation available.; Name=6; IsoId=Q8N9N5-6; Sequence=VSP_027399, VSP_027400, VSP_027402; Name=7; IsoId=Q8N9N5-7; Sequence=VSP_027399, VSP_027401, VSP_027402; Note=No experimental confirmation available.; 


uniprotID: Q8NCG5
geneSymbol: CHST4
reactome: R-HSA-913709;
length: 386
go: ENSG00000140835;
snps: rs3813744
name:
Carbohydrate sulfotransferase 4 (EC 2.8.2.-) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 3) (GST-3) (High endothelial cells N-acetylglucosamine 6-O-sulfotransferase) (HEC-GlcNAc6ST) (L-selectin ligand sulfotransferase) (LSST) (N-acetylglucosamine 6-O-sulfotransferase 2) (GlcNAc6ST-2) (Gn6st-2)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intrinsic component of Golgi membrane [GO:0031228]; trans-Golgi network [GO:0005802]; N-acetylglucosamine 6-O-sulfotransferase activity [GO:0001517]; sulfotransferase activity [GO:0008146]; carbohydrate metabolic process [GO:0005975]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]; immune response [GO:0006955]; inflammatory response [GO:0006954]; N-acetylglucosamine metabolic process [GO:0006044]; O-glycan processing [GO:0016266]; protein sulfation [GO:0006477]; sulfur compound metabolic process [GO:0006790]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:12855678}; Single-pass type II membrane protein {ECO:0000269|PubMed:12855678}.


uniprotID: Q9GZS9
geneSymbol: CHST5
reactome: R-HSA-2022854;
length: 411
go: ENSG00000135702;
snps: rs7206332 rs3826107
name:
Carbohydrate sulfotransferase 5 (EC 2.8.2.-) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-alpha) (GST4-alpha) (Intestinal N-acetylglucosamine-6-O-sulfotransferase) (I-GlcNAc6ST) (Intestinal GlcNAc-6-sulfotransferase) (hIGn6ST) (N-acetylglucosamine 6-O-sulfotransferase 3) (GlcNAc6ST-3) (Gn6st-3)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intrinsic component of Golgi membrane [GO:0031228]; trans-Golgi network [GO:0005802]; N-acetylglucosamine 6-O-sulfotransferase activity [GO:0001517]; sulfotransferase activity [GO:0008146]; carbohydrate metabolic process [GO:0005975]; keratan sulfate biosynthetic process [GO:0018146]; N-acetylglucosamine metabolic process [GO:0006044]; protein sulfation [GO:0006477]; sulfur compound metabolic process [GO:0006790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZS9-1; Sequence=Displayed; Name=2; IsoId=Q9GZS9-2; Sequence=VSP_037526; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305|PubMed:12855678}; Single-pass type II membrane protein {ECO:0000305|PubMed:12855678}. Note=Golgi membrane, early secretory pathway.


uniprotID: Q92560
geneSymbol: BAP1
reactome: R-HSA-5689603;R-HSA-5693565;
length: 729
go: ENSG00000163930;
snps: rs149974450 rs35353781
name:
Ubiquitin carboxyl-terminal hydrolase BAP1 (EC 3.4.19.12) (BRCA1-associated protein 1) (Cerebral protein 6)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PR-DUB complex [GO:0035517]; chromatin binding [GO:0003682]; peptidase activity [GO:0008233]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; cellular protein modification process [GO:0006464]; macrophage homeostasis [GO:0061519]; monoubiquitinated histone H2A deubiquitination [GO:0035522]; monoubiquitinated protein deubiquitination [GO:0035520]; negative regulation of cell proliferation [GO:0008285]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein deubiquitination [GO:0016579]; protein K48-linked deubiquitination [GO:0071108]; regulation of cell cycle [GO:0051726]; regulation of cell growth [GO:0001558]; regulation of cytokine production involved in inflammatory response [GO:1900015]; response to inorganic substance [GO:0010035]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18757409, ECO:0000269|PubMed:19188440, ECO:0000269|PubMed:19815555, ECO:0000269|PubMed:24703950}. Nucleus {ECO:0000269|PubMed:18757409, ECO:0000269|PubMed:19188440, ECO:0000269|PubMed:19815555, ECO:0000269|PubMed:24703950, ECO:0000269|PubMed:9528852}. Note=Mainly nuclear. Binds to chromatin. Localizes to the cytoplasm when monoubiquitinated by the E2/E3 hybrid ubiquitin-protein ligase UBE2O (PubMed:24703950). {ECO:0000269|PubMed:24703950}.


uniprotID: Q9H2A9
geneSymbol: CHST8
reactome: R-HSA-975578;
length: 424
go: ENSG00000124302;
snps: rs149660944 rs1261984908
name:
Carbohydrate sulfotransferase 8 (EC 2.8.2.-) (GalNAc-4-O-sulfotransferase 1) (GalNAc-4-ST1) (GalNAc4ST-1) (N-acetylgalactosamine-4-O-sulfotransferase 1)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; N-acetylgalactosamine 4-O-sulfotransferase activity [GO:0001537]; carbohydrate biosynthetic process [GO:0016051]; central nervous system development [GO:0007417]; hormone biosynthetic process [GO:0042446]; proteoglycan biosynthetic process [GO:0030166]; sulfur compound metabolic process [GO:0006790]


uniprotID: Q8NET6
geneSymbol: CHST13
reactome: R-HSA-2022870;
length: 341
go: ENSG00000180767;
snps: rs34311016 rs1056523 rs1056522
name:
Carbohydrate sulfotransferase 13 (EC 2.8.2.5) (Chondroitin 4-O-sulfotransferase 3) (Chondroitin 4-sulfotransferase 3) (C4ST-3) (C4ST3)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; chondroitin 4-sulfotransferase activity [GO:0047756]; N-acetylgalactosamine 4-O-sulfotransferase activity [GO:0001537]; carbohydrate biosynthetic process [GO:0016051]; chondroitin sulfate biosynthetic process [GO:0030206]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NET6-1; Sequence=Displayed; Name=2; IsoId=Q8NET6-2; Sequence=VSP_057175, VSP_057176; Note=No experimental confirmation available.; 


uniprotID: Q8NCH0
geneSymbol: CHST14
reactome: R-HSA-2022923;R-HSA-3595174;
name: Carbohydrate sulfotransferase 14 (EC 2.8.2.35) (Dermatan 4-sulfotransferase 1) (D4ST-1) (hD4ST1)
length: 376
go: ENSG00000169105;
snps: rs267606727 rs267606728 rs121908257 rs267606729 rs267606731 rs121908258
sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; N-acetylgalactosamine 4-O-sulfotransferase activity [GO:0001537]; phosphate ion binding [GO:0042301]; carbohydrate biosynthetic process [GO:0016051]; dermatan sulfate biosynthetic process [GO:0030208]; dermatan sulfate proteoglycan metabolic process [GO:0050655]


uniprotID: Q7LFX5
geneSymbol: CHST15
reactome: R-HSA-2022870;
length: 561
go: ENSG00000182022;
name:
Carbohydrate sulfotransferase 15 (EC 2.8.2.33) (B-cell RAG-associated gene protein) (hBRAG) (N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase) (GalNAc4S-6ST)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; 3'-phosphoadenosine 5'-phosphosulfate binding [GO:0050656]; N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity [GO:0050659]; chondroitin sulfate biosynthetic process [GO:0030206]; hexose biosynthetic process [GO:0019319]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7LFX5-1; Sequence=Displayed; Name=2; IsoId=Q7LFX5-2; Sequence=VSP_017387; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305|PubMed:10749872}; Single-pass type II membrane protein {ECO:0000305|PubMed:10749872}. Note=A small fraction may also be present at the cell surface, where it acts as a B-cell receptor.


uniprotID: Q9HBU1
geneSymbol: BARX1
pdb: 2DMT;
name: Homeobox protein BarH-like 1
length: 254
go: ENSG00000131668;
snps: rs191789925
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; animal organ development [GO:0048513]; anterior/posterior pattern specification [GO:0009952]; cell-cell signaling [GO:0007267]; digestive system development [GO:0055123]; epithelial cell differentiation [GO:0030855]; negative regulation of Wnt signaling pathway [GO:0030178]; regulation of transcription by RNA polymerase II [GO:0006357]; spleen development [GO:0048536]; tissue development [GO:0009888]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HBU1-1; Sequence=Displayed; Name=2; IsoId=Q9HBU1-2; Sequence=VSP_034700; 


uniprotID: Q9UMQ3
geneSymbol: BARX2
name: Homeobox protein BarH-like 2
length: 279
go: ENSG00000043039;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; animal organ development [GO:0048513]; cartilage condensation [GO:0001502]; myotube differentiation [GO:0014902]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; tissue development [GO:0009888]


uniprotID: P82251
geneSymbol: SLC7A9
reactome: R-HSA-210991;R-HSA-352230;R-HSA-5660883;
length: 487
go: ENSG00000021488;
drug: DB00138;
name:
b(0,+)-type amino acid transporter 1 (b(0,+)AT1) (Glycoprotein-associated amino acid transporter b0,+AT1) (Solute carrier family 7 member 9)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; L-amino acid transmembrane transporter activity [GO:0015179]; L-cystine transmembrane transporter activity [GO:0015184]; neutral amino acid transmembrane transporter activity [GO:0015175]; peptide antigen binding [GO:0042605]; L-cystine transport [GO:0015811]; leukocyte migration [GO:0050900]; neutral amino acid transport [GO:0015804]; protein-containing complex assembly [GO:0065003]

snps:
rs121908485 rs964489627 rs1395997436 rs769448665 rs121908480 rs79987078 rs372306844 rs12150889 rs121908479 rs79389353 rs368441237 rs531029519 rs121908482 rs1007160 rs140873167 rs121908487 rs777371504 rs766529640 rs121908483 rs121908486 rs755135545 rs201618022 rs768466784 rs769576205 rs121908484 rs939028046 rs142270619 rs774878350 rs760264924 rs146815072 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:12167606, ECO:0000269|PubMed:16609684}; Multi-pass membrane protein {ECO:0000269|PubMed:16609684, ECO:0000305|PubMed:12167606}.


uniprotID: P0C843
geneSymbol: LINC00032
name: Putative uncharacterized protein encoded by LINC00032
length: 101
sequence:
MHLHVQPLRAKGKRPKDTFNKMAHRKRHSVTSEFLSKVPDEVRQRYINLFVEKYLKVCKTEDEAVYKAKIEKKAIYERCSRRNMYVNIAVNYLKKLRDQGA


uniprotID: Q8IXQ3
geneSymbol: C9orf40
name: Uncharacterized protein C9orf40
length: 194
go: ENSG00000135045;
opentargets: DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]
sequence:
MAKRRAAEPVTFHVPWKRLLLCDFAEQPPPPPLWIRPPGVAHAGQLLGVPEQHRKRKIDAGTMAEPSASPSKRRDSGDNSAPSGQEREDHGLETGDPPLPPPPVLPGPGEELPGARLPGGGGDDGAGRAGPPRGDWGVASRQHNEEFWQYNTFQYWRNPLPPIDLADIEDLSEDTLTEATLQGRNEGAEVDMES


uniprotID: Q6ZRZ4
geneSymbol: C9orf47
name: Uncharacterized protein C9orf47
length: 202
go: ENSG00000186354;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZRZ4-1; Sequence=Displayed; Name=2; IsoId=Q6ZRZ4-2; Sequence=VSP_014928; 


uniprotID: Q5SZB4
geneSymbol: C9orf50
name: Uncharacterized protein C9orf50
length: 431
go: ENSG00000179058;
snps: rs918165 rs3213763 rs2302779 rs3087721
sequence:


uniprotID: Q5W0N0
geneSymbol: C9orf57
name: Uncharacterized protein C9orf57
length: 161
go: ENSG00000204669;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MKKIEISGTCLSFHLLFGLEIRMRRIVFAGVILFRLLGVILFRLLGVILFGRLGDLGTCQTKPGQYWKEEVHIQDVGGLICRACNLSLPFHGCLLDLGTCQAEPGQYCKEEVHIQGGIQWYSVKGCTKNTSECFKSTLVKRILQLHELVTTHCCNHSLCNF

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5W0N0-1; Sequence=Displayed; Name=2; IsoId=Q5W0N0-2; Sequence=VSP_056909; Note=No experimental confirmation available.; 


uniprotID: Q8N4C0
geneSymbol: C9orf62
name: Putative uncharacterized protein C9orf62
length: 152
sequence:
MGLSPGQTSVSFLWPLLEVRDHNTGRGLVPATVLTPGSPETLLELRQAFLGSRQARHGHDAAPSSGQQGCSVDRTAGRPVLGWRLRNSLTGQEGRQHLHLSGIRTSRKAKEYKPVFFGATEISVLMAVAESLREPPPPQWGWFLSSLFLKIF


uniprotID: Q5T8R8
geneSymbol: C9orf66
name: Uncharacterized protein C9orf66
length: 295
go: ENSG00000183784;
snps: rs636922 rs2236547 rs540473
sequence:


uniprotID: Q96PG8
geneSymbol: BBC3
name: Bcl-2-binding component 3 (JFY-1) (p53 up-regulated modulator of apoptosis)
length: 261
go: ENSG00000105327;
sequence:

opentargets:
mitochondrion [GO:0005739]; ATPase binding [GO:0051117]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; execution phase of apoptosis [GO:0097194]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cysteine-type endopeptidase activity [GO:2001056]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; release of cytochrome c from mitochondria [GO:0001836]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; Synonyms=PUMA gamma; IsoId=Q96PG8-2; Sequence=Displayed; Name=3; Synonyms=PUMA delta; IsoId=Q96PG8-1; Sequence=VSP_043781; Name=1; Synonyms=PUMA alpha; IsoId=Q9BXH1-1; Sequence=External; Name=2; Synonyms=PUMA beta; IsoId=Q9BXH1-2; Sequence=External; 

location:
SUBCELLULAR LOCATION: Note=Contrary to isoforms 1 and 2, isoform 3 does not localize to the mitochondria.


uniprotID: Q5T035
geneSymbol: C9orf129
name: Putative uncharacterized protein C9orf129
length: 196
opentargets: nucleus [GO:0005634]
snps: rs36081907
sequence:
MPGMVPPHVPPQMLNIPQTSLQAKPVAPQVPSPGGAPGQGPYPYSLSEPAPLTLDTSGKNLTEQNSYSNIPHEGKHTPLYERSLPINPAQSGSPNHVDSAYFPGSSTSSSSDNDEGSGGATKYTIYWGFRATDHHVQGRDSQARGTAAHWHGGHVCSPNVFWRISHGPAQQLTFPTEQAAPPVCPAPASRRLSAPG


uniprotID: Q8WZB0
geneSymbol: LINC00476
length: 136
name:
Putative uncharacterized protein encoded by LINC00476 (Nasopharyngeal carcinoma-associated gene 12 protein)

sequence:
MAANATSGRPPSIALRQPEATGWRRGIPAKVATKGTQAEREGDVRSGGRARGRCVRLAKRCSPSSLGLRRRRRRTGGRQGDPQIFLGSDFRLLTPANSNPVLENPARTGSRIVIGISRERNLPFCGRSNLPDVSSL


uniprotID: Q5VYM1
geneSymbol: C9orf131
name: Uncharacterized protein C9orf131
length: 1079
go: ENSG00000174038;
snps: rs615474 rs10117097 rs35523761 rs2298312 rs3739871
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VYM1-1; Sequence=Displayed; Name=2; IsoId=Q5VYM1-2; Sequence=VSP_046224; Name=3; IsoId=Q5VYM1-3; Sequence=VSP_046225; 


uniprotID: Q9H5X1
geneSymbol: CIAO2A
pdb: 2M5H;3UX2;3UX3;
name: Cytosolic iron-sulfur assembly component 2A (MIP18 family protein FAM96A)
length: 160
go: ENSG00000166797;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22683786}.
sequence:
MQRVSGLLSWTLSRVLWLSGLSEPGAARQPRIMEEKALEVYDLIRTIRDPEKPNTLEELEVVSESCVEVQEINEEEYLVIIRFTPTVPHCSLATLIGLCLRVKLQRCLPFKHKLEIYISEGTHSTEEDINKQINDKERVAAAMENPNLREIVEQCVLEPD

opentargets:
CIA complex [GO:0097361]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; chromosome segregation [GO:0007059]; iron-sulfur cluster assembly [GO:0016226]; protein maturation by iron-sulfur cluster transfer [GO:0097428]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H5X1-1; Sequence=Displayed; Name=2; IsoId=Q9H5X1-2; Sequence=VSP_042683; Note=No experimental confirmation available.; 


uniprotID: Q6ZW61
geneSymbol: BBS12
reactome: R-HSA-5620922;
name: Bardet-Biedl syndrome 12 protein
length: 710
go: ENSG00000181004;
sequence:

opentargets:
cilium [GO:0005929]; ATP binding [GO:0005524]; chaperone-mediated protein complex assembly [GO:0051131]; eating behavior [GO:0042755]; intraciliary transport [GO:0042073]; negative regulation of fat cell differentiation [GO:0045599]; photoreceptor cell maintenance [GO:0045494]

snps:
rs138036823 rs746271266 rs77731085 rs309369 rs1450190654 rs17854892 rs17006082 rs150040166 rs121918328 rs309370 rs771136797 rs7665271 rs10027479 rs13135778 rs35690634 rs138011813 rs770746493 rs776730549 rs1010403072 rs17857451 rs759088490 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:19190184}. Note=Located within the basal body of the primary cilium of differentiating preadipocytes. {ECO:0000269|PubMed:19190184}.


uniprotID: Q9BXC9
geneSymbol: BBS2
reactome: R-HSA-5620922;
name: Bardet-Biedl syndrome 2 protein
length: 721
snps: rs4784677 rs17856449 rs11373 rs16957538
sequence:

opentargets:
BBSome [GO:0034464]; ciliary basal body [GO:0036064]; ciliary membrane [GO:0060170]; cytosol [GO:0005829]; membrane [GO:0016020]; microvillus [GO:0005902]; motile cilium [GO:0031514]; stereocilium [GO:0032420]; RNA polymerase II repressing transcription factor binding [GO:0001103]; adult behavior [GO:0030534]; artery smooth muscle contraction [GO:0014824]; brain morphogenesis [GO:0048854]; cartilage development [GO:0051216]; cerebral cortex development [GO:0021987]; cilium assembly [GO:0060271]; fat cell differentiation [GO:0045444]; Golgi to plasma membrane protein transport [GO:0043001]; hippocampus development [GO:0021766]; melanosome transport [GO:0032402]; negative regulation of appetite by leptin-mediated signaling pathway [GO:0038108]; negative regulation of gene expression [GO:0010629]; negative regulation of multicellular organism growth [GO:0040015]; non-motile cilium assembly [GO:1905515]; photoreceptor cell maintenance [GO:0045494]; positive regulation of multicellular organism growth [GO:0040018]; protein localization [GO:0008104]; protein localization to organelle [GO:0033365]; regulation of cilium beat frequency involved in ciliary motility [GO:0060296]; sperm axoneme assembly [GO:0007288]; striatum development [GO:0021756]; vasodilation [GO:0042311]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.


uniprotID: Q8N3I7
geneSymbol: BBS5
reactome: R-HSA-5620922;
name: Bardet-Biedl syndrome 5 protein
length: 341
go: ENSG00000163093;
snps: rs121908581 rs121908582 rs137853921 rs35487251 rs143113298
sequence:

opentargets:
axoneme [GO:0005930]; BBSome [GO:0034464]; centriolar satellite [GO:0034451]; ciliary basal body [GO:0036064]; ciliary membrane [GO:0060170]; cytosol [GO:0005829]; intracellular [GO:0005622]; phosphatidylinositol-3-phosphate binding [GO:0032266]; RNA polymerase II repressing transcription factor binding [GO:0001103]; cilium assembly [GO:0060271]; heart looping [GO:0001947]; melanosome transport [GO:0032402]; motile cilium assembly [GO:0044458]; protein transport [GO:0015031]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N3I7-1; Sequence=Displayed; Name=2; IsoId=Q8N3I7-2; Sequence=VSP_017240; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Localizes to basal bodies. {ECO:0000250}.


uniprotID: Q9H6Q4
geneSymbol: CIAO3
reactome: R-HSA-2564830;
length: 476
go: ENSG00000103245;
snps: rs8045850 rs7188554
name:
Cytosolic iron-sulfur assembly component 3 (Cytosolic Fe-S cluster assembly factor NARFL) (Iron-only hydrogenase-like protein 1) (IOP1) (Nuclear prelamin A recognition factor-like protein) (Protein related to Narf)

sequence:

opentargets:
CIA complex [GO:0097361]; 4 iron, 4 sulfur cluster binding [GO:0051539]; metal ion binding [GO:0046872]; hematopoietic progenitor cell differentiation [GO:0002244]; iron-sulfur cluster assembly [GO:0016226]; oxygen homeostasis [GO:0032364]; regulation of gene expression [GO:0010468]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H6Q4-1; Sequence=Displayed; Name=2; IsoId=Q9H6Q4-2; Sequence=VSP_025694; Name=3; IsoId=Q9H6Q4-3; Sequence=VSP_025695; 


uniprotID: Q8N365
geneSymbol: CIART
length: 385
go: ENSG00000159208;
name:
Circadian-associated transcriptional repressor (ChIP-derived repressor of network oscillator) (Chrono) (Computationally highlighted repressor of the network oscillator)

sequence:

opentargets:
nucleus [GO:0005634]; PML body [GO:0016605]; E-box binding [GO:0070888]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; circadian regulation of gene expression [GO:0032922]; locomotor rhythm [GO:0045475]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N365-1; Sequence=Displayed; Name=2; IsoId=Q8N365-2; Sequence=VSP_020743, VSP_020744; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus, PML body {ECO:0000250}. Note=Co-localizes with the CLOCK-ARNTL/BMAL1 heterodimer in the PML body. {ECO:0000250}.


uniprotID: Q99828
geneSymbol: CIB1
pdb: 1DGU;1DGV;1XO5;1Y1A;2L4H;2L4I;2LM5;
length: 191
go: ENSG00000185043;
snps: rs3210935 rs11551250
name:
Calcium and integrin-binding protein 1 (CIB) (Calcium- and integrin-binding protein) (CIBP) (Calmyrin) (DNA-PKcs-interacting protein) (Kinase-interacting protein) (KIP) (SNK-interacting protein 2-28) (SIP2-28)

sequence:
MGGSGSRLSKELLAEYQDLTFLTKQEILLAHRRFCELLPQEQRSVESSLRAQVPFEQILSLPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRSPDFASSFKIVL

opentargets:
apical plasma membrane [GO:0016324]; cell periphery [GO:0071944]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; filopodium tip [GO:0032433]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; membrane [GO:0016020]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; sarcolemma [GO:0042383]; vesicle [GO:0031982]; calcium ion binding [GO:0005509]; calcium-dependent protein kinase inhibitor activity [GO:0008427]; ion channel binding [GO:0044325]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; protein membrane anchor [GO:0043495]; protein serine/threonine kinase inhibitor activity [GO:0030291]; Ras GTPase binding [GO:0017016]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cell adhesion [GO:0007155]; cell division [GO:0051301]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to growth factor stimulus [GO:0071363]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to tumor necrosis factor [GO:0071356]; cytoplasmic microtubule organization [GO:0031122]; double-strand break repair [GO:0006302]; endomitotic cell cycle [GO:0007113]; extrinsic apoptotic signaling pathway [GO:0097191]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of megakaryocyte differentiation [GO:0045653]; negative regulation of microtubule depolymerization [GO:0007026]; negative regulation of neuron projection development [GO:0010977]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of protein phosphorylation [GO:0001933]; platelet formation [GO:0030220]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of male germ cell proliferation [GO:2000256]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; regulation of cell division [GO:0051302]; regulation of cell proliferation [GO:0042127]; response to ischemia [GO:0002931]; spermatid development [GO:0007286]; thrombopoietin-mediated signaling pathway [GO:0038163]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99828-1; Sequence=Displayed; Name=2; Synonyms=CIB1a; IsoId=Q99828-2; Sequence=VSP_053740; 

location:
SUBCELLULAR LOCATION: Membrane; Lipid-anchor. Cell membrane, sarcolemma. Cell membrane. Apical cell membrane. Cell projection, ruffle membrane. Cell projection, filopodium tip. Cell projection, growth cone. Cell projection, lamellipodium. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Nucleus. Note=Colocalized with PPP3R1 at the cell membrane of cardiomyocytes in the hypertrophic heart (By similarity). Colocalized with NBR1 to the perinuclear region. Colocalizes with TAS1R2 in apical regions of taste receptor cells. Colocalized with RAC3 in the perinuclear area and at the cell periphery. Colocalized with PAK1 within membrane ruffles during cell spreading upon readhesion to fibronectin. Redistributed to the cytoskeleton upon platelet aggregation. Translocates from the cytosol to the plasma membrane in a calcium-dependent manner. Colocalized with STMN2 in the cell body, neurites and growth cones of neurons. Colocalized with STMN2 to the leading edge of lamellipodia. Colocalized with PLK3 at centrosomes in ductal breast carcinoma cells. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, perinuclear region {ECO:0000269|PubMed:23503467}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:23503467}.


uniprotID: Q8WY36
geneSymbol: BBX
name: HMG box transcription factor BBX (Bobby sox homolog) (HMG box-containing protein 2)
length: 941
go: ENSG00000114439;
snps: rs59781647
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; bone development [GO:0060348]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WY36-1; Sequence=Displayed; Name=2; Synonyms=BBXa; IsoId=Q8WY36-2; Sequence=VSP_018006; Name=3; IsoId=Q8WY36-3; Sequence=VSP_054880, VSP_054881; Note=No experimental confirmation available.; 


uniprotID: O75838
geneSymbol: CIB2
name: Calcium and integrin-binding family member 2 (Kinase-interacting protein 2) (KIP 2)
length: 187
go: ENSG00000136425;
snps: rs145415848 rs780168150 rs397515411 rs370965183 rs397515412 rs370359511
sequence:
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI

opentargets:
blood microparticle [GO:0072562]; cuticular plate [GO:0032437]; cytoplasm [GO:0005737]; muscle tendon junction [GO:0005927]; neuromuscular junction [GO:0031594]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; sarcolemma [GO:0042383]; stereocilium [GO:0032420]; calcium ion binding [GO:0005509]; integrin binding [GO:0005178]; magnesium ion binding [GO:0000287]; protein homodimerization activity [GO:0042803]; calcium ion homeostasis [GO:0055074]; cellular response to ATP [GO:0071318]; photoreceptor cell maintenance [GO:0045494]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75838-1; Sequence=Displayed; Name=2; IsoId=O75838-2; Sequence=VSP_053864; Note=No experimental confirmation available.; Name=3; IsoId=O75838-3; Sequence=VSP_053863; Note=No experimental confirmation available.; Name=4; IsoId=O75838-4; Sequence=VSP_054777; Note=No experimental confirmation available. Derived from EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9Z309}. Cell projection, stereocilium {ECO:0000269|PubMed:26173970, ECO:0000269|PubMed:26426422}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q9Z309}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:Q9Z309}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q9Z309}. Note=Colocalized with ITGA7 at the myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (By similarity). Localizes in the cuticular plate along and at the tip of the stereocilia of vestibular sensory hair cells (PubMed:26173970, PubMed:26426422). {ECO:0000250|UniProtKB:Q9Z309, ECO:0000269|PubMed:26173970, ECO:0000269|PubMed:26426422}.


uniprotID: Q9H6U6
geneSymbol: BCAS3
name: Breast carcinoma-amplified sequence 3 (GAOB1)
length: 928
go: ENSG00000141376;
snps: rs2643103 rs34712615
sequence:

opentargets:
cell leading edge [GO:0031252]; cell periphery [GO:0071944]; cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; intermediate filament cytoskeleton [GO:0045111]; nucleolus [GO:0005730]; nucleus [GO:0005634]; transcriptionally active chromatin [GO:0035327]; acetyltransferase activator activity [GO:0010698]; beta-tubulin binding [GO:0048487]; chromatin binding [GO:0003682]; histone acetyltransferase binding [GO:0035035]; histone binding [GO:0042393]; nuclear hormone receptor binding [GO:0035257]; transcription factor binding [GO:0008134]; activation of GTPase activity [GO:0090630]; angiogenesis [GO:0001525]; cellular response to estrogen stimulus [GO:0071391]; Golgi organization [GO:0007030]; microtubule organizing center organization [GO:0031023]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of GTPase activity [GO:0034260]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of catalytic activity [GO:0043085]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of GTPase activity [GO:0043547]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of establishment of cell polarity [GO:2000114]; response to starvation [GO:0042594]; tube formation [GO:0035148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=2; IsoId=Q9H6U6-1; Sequence=Displayed; Name=1; IsoId=Q9H6U6-2; Sequence=VSP_007858; Name=3; IsoId=Q9H6U6-3; Sequence=VSP_007858, VSP_007860; Name=4; IsoId=Q9H6U6-8; Sequence=VSP_007860; Name=5; Synonyms=Maaab1; IsoId=Q9H6U6-7; Sequence=VSP_007858, VSP_040113; Note=No experimental confirmation available. {ECO:0000305}; Name=6; Synonyms=Maaab2; IsoId=Q9H6U6-6; Sequence=VSP_040112, VSP_007858; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16617102, ECO:0000269|PubMed:17505058}. Cytoplasm {ECO:0000269|PubMed:16617102, ECO:0000269|PubMed:17505058, ECO:0000269|PubMed:18030336}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8CCN5}. Note=Localizes in the cytoplasm in stationary cells. Translocates from the cytoplasm to the leading edge in motile cells. Colocalizes with microtubules and intermediate filaments in both stationary and motile cells (By similarity). Associates with chromatin. Recruited to estrogen receptor-induced promoters in a PELP1-dependent manner. {ECO:0000250|UniProtKB:Q8CCN5, ECO:0000269|PubMed:17505058}.


uniprotID: P50895
geneSymbol: BCAM
pdb: 2PET;2PF6;
length: 628
go: ENSG00000187244;
snps: rs28399653 rs28399654 rs28399656 rs9967601 rs28399626 rs28399630 rs1135062 rs28399659
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Basal cell adhesion molecule (Auberger B antigen) (B-CAM cell surface glycoprotein) (F8/G253 antigen) (Lutheran antigen) (Lutheran blood group glycoprotein) (CD antigen CD239)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; laminin binding [GO:0043236]; laminin receptor activity [GO:0005055]; protein C-terminus binding [GO:0008022]; transmembrane signaling receptor activity [GO:0004888]; cell adhesion [GO:0007155]; cell-matrix adhesion [GO:0007160]; signal transduction [GO:0007165]


uniprotID: O15382
geneSymbol: BCAT2
reactome: R-HSA-70895;
length: 392
go: ENSG00000105552;
drug: DB04074;DB00142;DB00167;DB00149;DB02635;DB00114;DB02142;
snps: rs11548193
location: SUBCELLULAR LOCATION: Isoform A: Mitochondrion.; SUBCELLULAR LOCATION: Isoform B: Cytoplasm.
pdb:
1EKF;1EKP;1EKV;1KT8;1KTA;2A1H;2HDK;2HG8;2HGW;2HGX;2HHF;5BWR;5BWT;5BWU;5BWV;5BWW;5BWX;5CR5;5HNE;5I5S;5I5T;5I5U;5I5V;5I5W;5I5X;5I5Y;5I60;5MPR;

name:
Branched-chain-amino-acid aminotransferase, mitochondrial (BCAT(m)) (EC 2.6.1.42) (Placental protein 18) (PP18)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; branched-chain-amino-acid transaminase activity [GO:0004084]; L-isoleucine transaminase activity [GO:0052656]; L-leucine transaminase activity [GO:0052654]; L-valine transaminase activity [GO:0052655]; branched-chain amino acid biosynthetic process [GO:0009082]; branched-chain amino acid catabolic process [GO:0009083]; cellular response to leukemia inhibitory factor [GO:1990830]; isoleucine catabolic process [GO:0006550]; leucine biosynthetic process [GO:0009098]; regulation of hormone levels [GO:0010817]; valine biosynthetic process [GO:0009099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=O15382-1; Sequence=Displayed; Name=B; IsoId=O15382-2; Sequence=VSP_000236; 


uniprotID: O75363
geneSymbol: BCAS1
length: 584
go: ENSG00000064787;
opentargets: cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; myelination [GO:0042552]
snps: rs394732 rs158551 rs6022903 rs35575210 rs1055246
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14567997}.
name:
Breast carcinoma-amplified sequence 1 (Amplified and overexpressed in breast cancer) (Novel amplified in breast cancer 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75363-1; Sequence=Displayed; Name=2; Synonyms=5B; IsoId=O75363-2; Sequence=VSP_018520, VSP_018521, VSP_018522, VSP_018523; 


