# annotation

uniprotID: Q7L592
geneSymbol: NDUFAF7
reactome: R-HSA-6799198;
length: 441
go: ENSG00000003509;
snps: rs2714473
name:
Protein arginine methyltransferase NDUFAF7, mitochondrial (EC 2.1.1.320) (NADH dehydrogenase [ubiquinone] complex I, assembly factor 7) (Protein midA homolog)

sequence:

opentargets:
extracellular space [GO:0005615]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; enzyme binding [GO:0019899]; methyltransferase activity [GO:0008168]; protein-arginine omega-N symmetric methyltransferase activity [GO:0035243]; mitochondrial respiratory chain complex I assembly [GO:0032981]; peptidyl-arginine methylation, to symmetrical-dimethyl arginine [GO:0019918]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L592-1; Sequence=Displayed; Name=2; IsoId=Q7L592-2; Sequence=VSP_030606, VSP_030607; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20406883, ECO:0000269|PubMed:24089531, ECO:0000269|PubMed:24838397, ECO:0000269|PubMed:28837730}.


uniprotID: Q15596
geneSymbol: NCOA2
length: 1464
go: ENSG00000140396;
drug: DB06871;DB07863;DB07708;DB07712;DB01645;DB02998;DB08773;DB08601;
snps: rs2228591
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-159418;R-HSA-192105;R-HSA-193368;R-HSA-193807;R-HSA-1989781;R-HSA-211976;R-HSA-2151201;R-HSA-2426168;R-HSA-3214847;R-HSA-381340;R-HSA-3899300;R-HSA-400206;R-HSA-400253;R-HSA-5625886;R-HSA-9018519;

pdb:
1GWQ;1GWR;1M2Z;1MV9;1MVC;1MZN;1P93;1T63;1T65;1UHL;1YOK;1ZDT;1ZDU;1ZKY;2AO6;2B1V;2B1Z;2B23;2FAI;2G44;2G5O;2LDC;2P15;2P1T;2P1U;2P1V;2Q7J;2Q7L;2YJD;2ZXZ;2ZY0;3A9E;3CLD;3DZU;3DZY;3E00;3E7C;3E94;3ERD;3FUG;3GN8;3K22;3K23;3KWY;3KYT;3L0E;3L0J;3L0L;3O1D;3O1E;3OAP;3OZJ;3PCU;3PLZ;3Q95;3R5M;3UP0;3UP3;4CSJ;4DOS;4E2J;4FHH;4FHI;4IA1;4IA2;4IA3;4IA7;4IQR;4IU7;4IUI;4IV2;4IV4;4IVW;4IVY;4IW6;4IW8;4IWC;4IWF;4K4J;4K6I;4M8E;4M8H;4NIE;4NQA;4OC7;4P6W;4P6X;4PLD;4PLE;4POH;4POJ;4PP3;4PP5;4PP6;4PPP;4PPS;4PXM;4Q0A;4Q13;4QE6;4QE8;4RFW;4RMC;4RMD;4RME;4RUO;4UDC;4UDD;4WG0;4ZN7;4ZN9;4ZNH;4ZNS;4ZNT;4ZNU;4ZNV;4ZNW;4ZO1;4ZSH;5APH;5APJ;5DI7;5DID;5DIE;5DIG;5DK9;5DKB;5DKE;5DKG;5DKS;5DL4;5DLR;5DMC;5DMF;5DP0;5DRJ;5DRM;5DTV;5DU5;5DUE;5DUG;5DUH;5DVS;5DVV;5DWE;5DWG;5DWI;5DWJ;5DX3;5DXB;5DXE;5DXG;5DXK;5DXM;5DXP;5DXQ;5DXR;5DY8;5DYB;5DYD;5DZ0;5DZ1;5DZ3;5DZH;5DZI;5E0W;5E0X;5E14;5E15;5E19;5E1C;5EC9;5EGV;5EHJ;5EI1;5EIT;5G3J;5G42;5G43;5G44;5G45;5G46;5G5W;5H1E;5HYR;5I4V;5IAW;5ICK;5KCC;5KCD;5KCE;5KCF;5KCT;5KCU;5KCW;5KD9;5KR9;5KRA;5KRC;5KRF;5KRH;5KRI;5KRJ;5KRK;5KRL;5KRM;5KRO;5L11;5LGA;5LYQ;5MK4;5NFP;5NFT;5Q17;5SYZ;5T1Z;5TLD;5TLF;5TLG;5TLL;5TLM;5TLO;5TLP;5TLT;5TLU;5TLV;5TLX;5TLY;5TM1;5TM2;5TM3;5TM4;5TM5;5TM6;5TM7;5TM8;5TM9;5TML;5TMM;5TMO;5TMQ;5TMR;5TMS;5TMT;5TMU;5TMV;5TMW;5TMZ;5TN1;5TN3;5TN4;5TN5;5TN6;5TN7;5TN8;5U2D;5UAN;5VB3;5VB5;5VB6;5VB7;5VQK;5VQL;5WGQ;5WZX;5XPL;5YP5;6EL6;6EL7;6EL9;

name:
Nuclear receptor coactivator 2 (NCoA-2) (Class E basic helix-loop-helix protein 75) (bHLHe75) (Transcriptional intermediary factor 2) (hTIF2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; aryl hydrocarbon receptor binding [GO:0017162]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear hormone receptor binding [GO:0035257]; nuclear receptor binding [GO:0016922]; nuclear receptor transcription coactivator activity [GO:0030374]; protein dimerization activity [GO:0046983]; protein domain specific binding [GO:0019904]; RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding [GO:0001162]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; thyroid hormone receptor coactivator activity [GO:0030375]; transcription coactivator activity [GO:0003713]; bile acid and bile salt transport [GO:0015721]; cellular response to hormone stimulus [GO:0032870]; cellular response to Thyroglobulin triiodothyronine [GO:1904017]; circadian regulation of gene expression [GO:0032922]; locomotor rhythm [GO:0045475]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of glucose metabolic process [GO:0010906]; regulation of lipid metabolic process [GO:0019216]; regulation of transcription, DNA-templated [GO:0006355]; response to progesterone [GO:0032570]


uniprotID: O76041
geneSymbol: NEBL
pdb: 4F14;
name: Nebulette (Actin-binding Z-disk protein)
length: 1014
go: ENSG00000078114;
snps: rs75301590 rs2296610 rs4025981 rs41277370 rs4748728 rs71535732
location: SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:15004028}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; I band [GO:0031674]; stress fiber [GO:0001725]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; cytoskeletal protein binding [GO:0008092]; filamin binding [GO:0031005]; structural constituent of muscle [GO:0008307]; tropomyosin binding [GO:0005523]; cardiac muscle thin filament assembly [GO:0071691]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O76041-1; Sequence=Displayed; Name=2; Synonyms=LIM-nebulette, LNEBL; IsoId=O76041-2; Sequence=VSP_043816, VSP_043817, VSP_043818; Note=Expressed in non-muscle cells. May be transcribed from an upstream promoter active in non-muscle cells. {ECO:0000244|PubMed:24129315}; 


uniprotID: Q9UN36
geneSymbol: NDRG2
pdb: 2XMQ;2XMR;2XMS;
name: Protein NDRG2 (N-myc downstream-regulated gene 2 protein) (Protein Syld709613)
length: 371
go: ENSG00000165795;
snps: rs36007455 rs11552412
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; cell differentiation [GO:0030154]; negative regulation of cytokine production [GO:0001818]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of smooth muscle cell proliferation [GO:0048662]; regulation of platelet-derived growth factor production [GO:0090361]; regulation of vascular endothelial growth factor production [GO:0010574]; signal transduction [GO:0007165]; substantia nigra development [GO:0021762]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=NDRG2ins; IsoId=Q9UN36-1; Sequence=Displayed; Name=2; Synonyms=NDRG2var; IsoId=Q9UN36-2; Sequence=VSP_003417; Name=3; IsoId=Q9UN36-3; Sequence=VSP_003418; Name=4; IsoId=Q9UN36-4; Sequence=VSP_003417, VSP_019007; Name=5; IsoId=Q9UN36-5; Sequence=VSP_003417, VSP_019008; Name=6; IsoId=Q9UN36-6; Sequence=VSP_054583, VSP_003417; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Cell projection, growth cone {ECO:0000250}. Note=In neurons, seems to concentrate at axonal growth cone. Perinuclear in neurons (By similarity). {ECO:0000250}.


uniprotID: O95169
geneSymbol: NDUFB8
reactome: R-HSA-1268020;R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 186
go: ENSG00000166136;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial (Complex I-ASHI) (CI-ASHI) (NADH-ubiquinone oxidoreductase ASHI subunit)

sequence:
MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVGPKQYPYNNLYLERGGDPSKEPERVVHYEI

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95169-1; Sequence=Displayed; Name=2; IsoId=O95169-2; Sequence=VSP_054843, VSP_054844; Note=No experimental confirmation available.; Name=3; IsoId=O95169-3; Sequence=VSP_054842; Note=No experimental confirmation available. Derived from EST data.; 


uniprotID: Q09161
geneSymbol: NCBP1
pdb: 1H2T;1H2U;1H2V;1H6K;1N52;1N54;3FEX;3FEY;5OO6;5OOB;6D0Y;
length: 790
go: ENSG00000136937;
reactome:
R-HSA-109688;R-HSA-111367;R-HSA-112382;R-HSA-113418;R-HSA-159227;R-HSA-159230;R-HSA-159231;R-HSA-159236;R-HSA-167152;R-HSA-167158;R-HSA-167200;R-HSA-167242;R-HSA-191859;R-HSA-674695;R-HSA-6803529;R-HSA-6807505;R-HSA-72086;R-HSA-72163;R-HSA-72165;R-HSA-72187;R-HSA-72203;R-HSA-77588;R-HSA-77595;R-HSA-8851708;R-HSA-9010553;R-HSA-975956;R-HSA-975957;

name:
Nuclear cap-binding protein subunit 1 (80 kDa nuclear cap-binding protein) (CBP80) (NCBP 80 kDa subunit)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; mRNA cap binding complex [GO:0005845]; nuclear cap binding complex [GO:0005846]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; RNA cap binding complex [GO:0034518]; mRNA binding [GO:0003729]; RNA 7-methylguanosine cap binding [GO:0000340]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; 7-methylguanosine mRNA capping [GO:0006370]; fibroblast growth factor receptor signaling pathway [GO:0008543]; histone mRNA metabolic process [GO:0008334]; mRNA 3'-end processing [GO:0031124]; mRNA cis splicing, via spliceosome [GO:0045292]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; nuclear export [GO:0051168]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of cell growth [GO:0030307]; positive regulation of mRNA 3'-end processing [GO:0031442]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; positive regulation of RNA binding [GO:1905216]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; primary miRNA processing [GO:0031053]; regulation of translational initiation [GO:0006446]; RNA export from nucleus [GO:0006405]; RNA metabolic process [GO:0016070]; RNA splicing [GO:0008380]; snRNA transcription by RNA polymerase II [GO:0042795]; spliceosomal complex assembly [GO:0000245]; termination of RNA polymerase II transcription [GO:0006369]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19648179}. Cytoplasm {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. {ECO:0000269|PubMed:17289661}.


uniprotID: O76036
geneSymbol: NCR1
reactome: R-HSA-198933;
pdb: 1OLL;1P6F;
length: 304
go: ENSG00000189430;
snps: rs2278428
name:
Natural cytotoxicity triggering receptor 1 (Lymphocyte antigen 94 homolog) (NK cell-activating receptor) (Natural killer cell p46-related protein) (NK-p46) (NKp46) (hNKp46) (CD antigen CD335)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; SWI/SNF complex [GO:0016514]; cellular defense response [GO:0006968]; natural killer cell activation [GO:0030101]; regulation of immune response [GO:0050776]; regulation of natural killer cell mediated cytotoxicity [GO:0042269]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O76036-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; Synonyms=b; IsoId=O76036-2; Sequence=VSP_010408; Note=No experimental confirmation available.; Name=3; Synonyms=c; IsoId=O76036-3; Sequence=VSP_010407; Note=No experimental confirmation available.; Name=4; Synonyms=d; IsoId=O76036-4; Sequence=VSP_010407, VSP_010408; Note=No experimental confirmation available.; Name=5; IsoId=O76036-5; Sequence=VSP_010406; Note=No experimental confirmation available.; Name=6; IsoId=O76036-6; Sequence=VSP_038384; Note=No experimental confirmation available.; 


uniprotID: Q00604
geneSymbol: NDP
pdb: 4MY2;5BPU;5BQ8;5BQB;5BQC;5BQE;5CL1;
name: Norrin (Norrie disease protein) (X-linked exudative vitreoretinopathy 2 protein)
length: 133
go: ENSG00000124479;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9407136}.
sequence:
MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; frizzled binding [GO:0005109]; growth factor activity [GO:0008083]; protein homodimerization activity [GO:0042803]; canonical Wnt signaling pathway [GO:0060070]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; extracellular matrix-cell signaling [GO:0035426]; nervous system development [GO:0007399]; placenta development [GO:0001890]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription, DNA-templated [GO:0045893]; retina vasculature morphogenesis in camera-type eye [GO:0061299]; sensory perception of sound [GO:0007605]; signal transduction [GO:0007165]; vacuole organization [GO:0007033]; visual perception [GO:0007601]; Wnt signaling pathway [GO:0016055]

snps:
rs104894879 rs5952410 rs104894874 rs104894870 rs137852221 rs104894869 rs104894880 rs1369490553 rs1460859456 rs104894872 rs727504031 rs104894868 rs1057520333 rs1057518793 rs104894867 rs104894877 rs104894871 rs104894883 rs104894875 rs104894876 rs137852220 rs104894878 rs28933684 


uniprotID: Q6P3R8
geneSymbol: NEK5
length: 708
go: ENSG00000197168;
snps: rs34756139
name:
Serine/threonine-protein kinase Nek5 (EC 2.7.11.1) (Never in mitosis A-related kinase 5) (NimA-related protein kinase 5)

sequence:

opentargets:
ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; positive regulation of cysteine-type endopeptidase activity [GO:2001056]; positive regulation of striated muscle cell differentiation [GO:0051155]


uniprotID: Q14938
geneSymbol: NFIX
reactome: R-HSA-73980;R-HSA-749476;
length: 502
go: ENSG00000008441;
snps: rs387907254 rs387907255
location: SUBCELLULAR LOCATION: Nucleus.
name:
Nuclear factor 1 X-type (NF1-X) (Nuclear factor 1/X) (CCAAT-box-binding transcription factor) (CTF) (Nuclear factor I/X) (NF-I/X) (NFI-X) (TGGCA-binding protein)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; DNA replication [GO:0006260]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q14938-1; Sequence=Displayed; Name=2; IsoId=Q14938-2; Sequence=VSP_003560; Name=3; IsoId=Q14938-3; Sequence=VSP_003561, VSP_003562; Name=4; IsoId=Q14938-4; Sequence=VSP_003558; Name=5; IsoId=Q14938-5; Sequence=VSP_003559, VSP_003561, VSP_003562; Name=6; IsoId=Q14938-6; Sequence=VSP_003558, VSP_003561, VSP_003562; Note=No experimental confirmation available.; 


uniprotID: P51956
geneSymbol: NEK3
length: 506
go: ENSG00000136098;
snps: rs17482764 rs55946204 rs56190615 rs56021040 rs34077016 rs55969405 rs34076988 rs34488913
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection, axon {ECO:0000250}.
name:
Serine/threonine-protein kinase Nek3 (EC 2.7.11.1) (HSPK 36) (Never in mitosis A-related kinase 3) (NimA-related protein kinase 3)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; cell division [GO:0051301]; establishment of cell polarity [GO:0030010]; mitotic cell cycle [GO:0000278]; neuron projection morphogenesis [GO:0048812]; protein phosphorylation [GO:0006468]; regulation of tubulin deacetylation [GO:0090043]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51956-1; Sequence=Displayed; Name=2; IsoId=P51956-2; Sequence=VSP_035427; Note=No experimental confirmation available.; 


uniprotID: Q9HCD5
geneSymbol: NCOA5
pdb: 1V95;2J7X;2J7Y;4ZI1;
name: Nuclear receptor coactivator 5 (NCoA-5) (Coactivator independent of AF-2) (CIA)
length: 579
go: ENSG00000124160;
snps: rs11549557
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; extracellular space [GO:0005615]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; RNA binding [GO:0003723]; glucose homeostasis [GO:0042593]; negative regulation of insulin receptor signaling pathway [GO:0046627]


uniprotID: P14598
geneSymbol: NCF1
reactome: R-HSA-1222556;R-HSA-1236973;R-HSA-3299685;R-HSA-4420097;R-HSA-5668599;
pdb: 1GD5;1K4U;1KQ6;1NG2;1O7K;1OV3;1UEC;1W70;1WLP;
length: 390
go: ENSG00000158517;
drug: DB00514;
snps: rs119103270 rs13447 rs10614 rs782555266 rs1489201208 rs13739
name:
Neutrophil cytosol factor 1 (NCF-1) (47 kDa autosomal chronic granulomatous disease protein) (47 kDa neutrophil oxidase factor) (NCF-47K) (Neutrophil NADPH oxidase factor 1) (Nox organizer 2) (Nox-organizing protein 2) (SH3 and PX domain-containing protein 1A) (p47-phox)

sequence:

opentargets:
cytosol [GO:0005829]; dendrite [GO:0030425]; extrinsic component of membrane [GO:0019898]; Golgi apparatus [GO:0005794]; NADPH oxidase complex [GO:0043020]; neuronal cell body [GO:0043025]; phagolysosome [GO:0032010]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; electron transfer activity [GO:0009055]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; SH3 domain binding [GO:0017124]; superoxide-generating NADPH oxidase activator activity [GO:0016176]; superoxide-generating NADPH oxidase activity [GO:0016175]; apoptotic process [GO:0006915]; cellular defense response [GO:0006968]; cellular response to cadmium ion [GO:0071276]; cellular response to reactive oxygen species [GO:0034614]; innate immune response [GO:0045087]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of JNK cascade [GO:0046330]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of transcription, DNA-templated [GO:0045893]; protein targeting to membrane [GO:0006612]; respiratory burst [GO:0045730]; superoxide anion generation [GO:0042554]; superoxide metabolic process [GO:0006801]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14598-1; Sequence=Displayed; Name=2; IsoId=P14598-2; Sequence=VSP_035032, VSP_035033; Note=Due to intron retention.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:2550933}. Membrane {ECO:0000269|PubMed:12356722}; Peripheral membrane protein {ECO:0000269|PubMed:12356722}; Cytoplasmic side {ECO:0000269|PubMed:12356722}.


uniprotID: Q13772
geneSymbol: NCOA4
pdb: 1T5Z;
length: 614
go: ENSG00000266412;
snps: rs1132111
name:
Nuclear receptor coactivator 4 (NCoA-4) (Androgen receptor coactivator 70 kDa protein) (70 kDa AR-activator) (70 kDa androgen receptor coactivator) (Androgen receptor-associated protein of 70 kDa) (Ret-activating protein ELE1)

sequence:

opentargets:
autolysosome [GO:0044754]; nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; transcription coactivator activity [GO:0003713]; androgen receptor signaling pathway [GO:0030521]; cellular iron ion homeostasis [GO:0006879]; male gonad development [GO:0008584]; positive regulation of transcription, DNA-templated [GO:0045893]; protein targeting to lysosome [GO:0006622]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=Alpha; IsoId=Q13772-1; Sequence=Displayed; Name=Beta; IsoId=Q13772-2; Sequence=VSP_003409; Note=No experimental confirmation available.; Name=3; IsoId=Q13772-3; Sequence=VSP_046348; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q13772-4; Sequence=VSP_046348, VSP_046349; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P21359
geneSymbol: NF1
reactome: R-HSA-5658442;R-HSA-6802949;R-HSA-6802953;
pdb: 1NF1;2D4Q;2E2X;3P7Z;3PEG;3PG7;
name: Neurofibromin (Neurofibromatosis-related protein NF-1) [Cleaved into: Neurofibromin truncated]
length: 2839
go: ENSG00000196712;
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; presynapse [GO:0098793]; GTPase activator activity [GO:0005096]; phosphatidylcholine binding [GO:0031210]; phosphatidylethanolamine binding [GO:0008429]; actin cytoskeleton organization [GO:0030036]; adrenal gland development [GO:0030325]; amygdala development [GO:0021764]; artery morphogenesis [GO:0048844]; brain development [GO:0007420]; camera-type eye morphogenesis [GO:0048593]; cell communication [GO:0007154]; cellular response to heat [GO:0034605]; cerebral cortex development [GO:0021987]; cognition [GO:0050890]; collagen fibril organization [GO:0030199]; extracellular matrix organization [GO:0030198]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; forebrain astrocyte development [GO:0021897]; forebrain morphogenesis [GO:0048853]; gamma-aminobutyric acid secretion, neurotransmission [GO:0061534]; glutamate secretion, neurotransmission [GO:0061535]; hair follicle maturation [GO:0048820]; heart development [GO:0007507]; liver development [GO:0001889]; MAPK cascade [GO:0000165]; metanephros development [GO:0001656]; myelination in peripheral nervous system [GO:0022011]; negative regulation of angiogenesis [GO:0016525]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of cell migration [GO:0030336]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of neuroblast proliferation [GO:0007406]; negative regulation of neurotransmitter secretion [GO:0046929]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of osteoclast differentiation [GO:0045671]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of Rac protein signal transduction [GO:0035021]; neural tube development [GO:0021915]; observational learning [GO:0098597]; osteoblast differentiation [GO:0001649]; peripheral nervous system development [GO:0007422]; phosphatidylinositol 3-kinase signaling [GO:0014065]; pigmentation [GO:0043473]; positive regulation of adenylate cyclase activity [GO:0045762]; positive regulation of apoptotic process [GO:0043065]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001241]; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902043]; positive regulation of GTPase activity [GO:0043547]; positive regulation of neuron apoptotic process [GO:0043525]; Ras protein signal transduction [GO:0007265]; regulation of angiogenesis [GO:0045765]; regulation of blood vessel endothelial cell migration [GO:0043535]; regulation of bone resorption [GO:0045124]; regulation of cell-matrix adhesion [GO:0001952]; regulation of gene expression [GO:0010468]; regulation of glial cell differentiation [GO:0045685]; regulation of GTPase activity [GO:0043087]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of long-term synaptic potentiation [GO:1900271]; regulation of synaptic transmission, GABAergic [GO:0032228]; response to hypoxia [GO:0001666]; Schwann cell development [GO:0014044]; skeletal muscle tissue development [GO:0007519]; smooth muscle tissue development [GO:0048745]; spinal cord development [GO:0021510]; sympathetic nervous system development [GO:0048485]; visual learning [GO:0008542]; wound healing [GO:0042060]

snps:
rs199474725 rs199474726 rs4795581 rs4795581 rs199474729 rs199474728 rs199474731 rs199474734 rs199474744 rs199474752 rs112306990 rs199474753 rs199474756 rs199474735 rs199474767 rs199474736 rs199474773 rs137854563 rs199474768 rs199474769 rs137854557 rs199474757 rs137854558 rs199474770 rs199474737 rs199474758 rs199474774 rs199474759 rs199474760 rs142712751 rs199474738 rs145891889 rs17881753 rs199474761 rs199474727 rs199474762 rs199474777 rs199474771 rs199474745 rs199474746 rs199474763 rs199474778 rs199474730 rs199474785 rs137854566 rs137854566 rs199474747 rs199474748 rs199474739 rs199474786 rs199474775 rs199474749 rs137854553 rs199474740 rs199474779 rs199474764 rs199474787 rs752039618 rs199474780 rs199474741 rs199474732 rs199474732 rs137854564 rs199474765 rs199474742 rs137854556 rs137854556 rs199474789 rs137854554 rs17884349 rs199474790 rs199474788 rs137854550 rs199474750 rs199474781 rs199474733 rs199474754 rs199474755 rs199474772 rs199474743 rs199474766 rs1060500316 rs199474782 rs199474791 rs199474792 rs199474751 rs199474783 rs137854561 rs137854551 rs267606598 rs199474776 rs199474784 rs149055633 rs2230850 rs199474793 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=2; Synonyms=Type II; IsoId=P21359-1; Sequence=Displayed; Name=1; Synonyms=Type I; IsoId=P21359-2; Sequence=VSP_001628; Name=3; IsoId=P21359-3; Sequence=VSP_001629, VSP_001630; Name=4; IsoId=P21359-4; Sequence=VSP_001631, VSP_001632; Name=5; IsoId=P21359-5; Sequence=VSP_043467, VSP_043468; Name=6; IsoId=P21359-6; Sequence=VSP_001628, VSP_053587; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14988005}. Nucleus, nucleolus {ECO:0000269|PubMed:14988005}.


uniprotID: A8MQ27
geneSymbol: NEURL1B
reactome: R-HSA-2122948;R-HSA-2644606;R-HSA-2691232;R-HSA-2894862;R-HSA-2979096;R-HSA-9013507;
length: 555
go: ENSG00000214357;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19723503}.
name:
E3 ubiquitin-protein ligase NEURL1B (EC 2.3.2.27) (Neuralized-2) (NEUR2) (Neuralized-like protein 1B) (Neuralized-like protein 3) (RING-type E3 ubiquitin transferase NEURL1B)

sequence:

opentargets:
early endosome [GO:0005769]; ligase activity [GO:0016874]; metal ion binding [GO:0046872]; transferase activity [GO:0016740]; Notch signaling pathway [GO:0007219]; protein ubiquitination [GO:0016567]; ubiquitin-dependent endocytosis [GO:0070086]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A8MQ27-1; Sequence=Displayed; Name=2; Synonyms=delta-NHR1; IsoId=A8MQ27-2; Sequence=VSP_044404; Name=3; Synonyms=delta-NHR2; IsoId=A8MQ27-3; Sequence=VSP_044405; 


uniprotID: P52848
geneSymbol: NDST1
reactome: R-HSA-2022928;
pdb: 1NST;
length: 882
go: ENSG00000070614;
drug: DB01812;
snps: rs606231459 rs606231458 rs606231457 rs606231456
name:
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 (EC 2.8.2.8) (Glucosaminyl N-deacetylase/N-sulfotransferase 1) (NDST-1) (N-heparan sulfate sulfotransferase 1) (N-HSST 1) ([Heparan sulfate]-glucosamine N-sulfotransferase 1) (HSNST 1) [Includes: Heparan sulfate N-deacetylase 1 (EC 3.-.-.-); Heparan sulfate N-sulfotransferase 1 (EC 2.8.2.-)]

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; [heparan sulfate]-glucosamine N-sulfotransferase activity [GO:0015016]; heparan sulfate N-acetylglucosaminyltransferase activity [GO:0042328]; N-acetylglucosamine deacetylase activity [GO:0050119]; aorta development [GO:0035904]; cardiac septum development [GO:0003279]; coronary vasculature development [GO:0060976]; embryonic neurocranium morphogenesis [GO:0048702]; embryonic viscerocranium morphogenesis [GO:0048703]; fibroblast growth factor receptor signaling pathway [GO:0008543]; forebrain development [GO:0030900]; glycosaminoglycan biosynthetic process [GO:0006024]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process [GO:0015014]; heparin biosynthetic process [GO:0030210]; inflammatory response [GO:0006954]; midbrain development [GO:0030901]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of smoothened signaling pathway [GO:0045880]; protein sulfation [GO:0006477]; respiratory gaseous exchange [GO:0007585]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52848-1; Sequence=Displayed; Name=2; IsoId=P52848-2; Sequence=VSP_017397, VSP_017398; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:9230113}; Single-pass type II membrane protein {ECO:0000269|PubMed:9230113}.


uniprotID: Q96NK8
geneSymbol: NEUROD6
length: 337
go: ENSG00000164600;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Neurogenic differentiation factor 6 (NeuroD6) (Class A basic helix-loop-helix protein 2) (bHLHa2) (Protein atonal homolog 2)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; dentate gyrus development [GO:0021542]


uniprotID: P20929
geneSymbol: NEB
reactome: R-HSA-390522;
pdb: 1ARK;1NEB;
name: Nebulin
length: 6669
go: ENSG00000183091;
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; structural constituent of muscle [GO:0008307]; cardiac muscle thin filament assembly [GO:0071691]; muscle filament sliding [GO:0030049]; muscle organ development [GO:0007517]; regulation of actin filament length [GO:0030832]; somatic muscle development [GO:0007525]

snps:
rs4077109 rs35686968 rs6735208 rs6711382 rs34800215 rs34577613 rs7426114 rs34532796 rs13013209 rs35974308 rs6713162 rs13024542 rs10172023 rs35227368 rs4327235 rs16830236 rs2288210 rs2288200 rs16830171 rs3732309 rs34368668 rs1061305 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P20929-1; Sequence=Displayed; Name=2; IsoId=P20929-2; Sequence=VSP_054445, VSP_054446, VSP_054447, VSP_054448; Name=3; IsoId=P20929-3; Sequence=VSP_054445, VSP_054446, VSP_054448; Name=4; IsoId=P20929-4; Sequence=VSP_054444; 


uniprotID: O75251
geneSymbol: NDUFS7
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 213
go: ENSG00000115286;
drug: DB00997;DB00157;
snps: rs1142530 rs104894705
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305|PubMed:12611891}.
name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I-20kD) (CI-20kD) (NADH-ubiquinone oxidoreductase 20 kDa subunit) (PSST subunit)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial respiratory chain complex I [GO:0005747]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; synaptic membrane [GO:0097060]; 4 iron, 4 sulfur cluster binding [GO:0051539]; metal ion binding [GO:0046872]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor [GO:0016655]; protease binding [GO:0002020]; quinone binding [GO:0048038]; aerobic respiration [GO:0009060]; electron transport coupled proton transport [GO:0015990]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75251-1; Sequence=Displayed; Name=2; IsoId=O75251-2; Sequence=VSP_057067; Note=No experimental confirmation available.; 


uniprotID: Q9UBB6
geneSymbol: NCDN
name: Neurochondrin
length: 729
go: ENSG00000020129;
snps: rs753974779
sequence:

opentargets:
cytosol [GO:0005829]; dendrite [GO:0030425]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; bone resorption [GO:0045453]; neuron projection development [GO:0031175]; regulation of neuronal synaptic plasticity [GO:0048168]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=NCDN1, Neurochondrin-1; IsoId=Q9UBB6-1; Sequence=Displayed; Name=2; Synonyms=NCDN2, Neurochondrin-2; IsoId=Q9UBB6-2; Sequence=VSP_032315; Name=3; IsoId=Q9UBB6-3; Sequence=VSP_032316; Note=Incomplete sequence. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell projection, dendrite. Note=Localizes to somatic regions of neurons.


uniprotID: Q7Z6G3
geneSymbol: NECAB2
length: 386
go: ENSG00000103154;
snps: rs2292323 rs2292324 rs2292329 rs2271298
name:
N-terminal EF-hand calcium-binding protein 2 (EF-hand calcium-binding protein 2) (Neuronal calcium-binding protein 2) (Synaptotagmin-interacting protein 2) (Stip-2)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; plasma membrane [GO:0005886]; A2A adenosine receptor binding [GO:0031687]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; type 5 metabotropic glutamate receptor binding [GO:0031802]; negative regulation of G protein-coupled receptor internalization [GO:1904021]; positive regulation of adenosine receptor signaling pathway [GO:0060168]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of glutamate receptor signaling pathway [GO:1900451]; positive regulation of protein localization to membrane [GO:1905477]; regulation of amyloid precursor protein biosynthetic process [GO:0042984]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6G3-1; Sequence=Displayed; Name=2; IsoId=Q7Z6G3-2; Sequence=VSP_058936; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:F1LQY6, ECO:0000250|UniProtKB:Q91ZP9}. Cell projection, dendrite {ECO:0000250|UniProtKB:F1LQY6}. Cell projection, axon {ECO:0000250|UniProtKB:F1LQY6}. Cell membrane {ECO:0000269|PubMed:17689978, ECO:0000269|PubMed:19694902}. Note=Colocalizes with ADORA2A and/or mGluR5/GRM5 at the plasma membrane (PubMed:17689978, PubMed:19694902). Found in neuronal somata (PubMed:26843217). Detected in the cytoplasm of striatal neurons, at postsynaptic sites, filling dendritic shafts and spines, and at presynaptic sites, filling axon terminals (By similarity). {ECO:0000250|UniProtKB:F1LQY6, ECO:0000269|PubMed:17689978, ECO:0000269|PubMed:19694902, ECO:0000269|PubMed:26843217}.


uniprotID: Q8N5V2
geneSymbol: NGEF
reactome: R-HSA-193648;R-HSA-194840;R-HSA-3928663;R-HSA-416482;
name: Ephexin-1 (Eph-interacting exchange protein) (Neuronal guanine nucleotide exchange factor)
length: 710
go: ENSG00000066248;
snps: rs2271703 rs4973588
sequence:

opentargets:
cytosol [GO:0005829]; growth cone [GO:0030426]; membrane [GO:0016020]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; ephrin receptor signaling pathway [GO:0048013]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of dendritic spine morphogenesis [GO:0061002]; positive regulation of apoptotic process [GO:0043065]; regulation of GTPase activity [GO:0043087]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N5V2-1; Sequence=Displayed; Name=2; IsoId=Q8N5V2-2; Sequence=VSP_020259, VSP_020260, VSP_020261; Note=No experimental confirmation available.; Name=3; IsoId=Q8N5V2-3; Sequence=VSP_020259, VSP_020260; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Note=Associated with membranes. Localizes to axonal growth cones (By similarity). {ECO:0000250}.


uniprotID: A6NI72
geneSymbol: NCF1B
name: Putative neutrophil cytosol factor 1B (NCF-1B) (Putative SH3 and PX domain-containing protein 1B)
length: 391
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; NADPH oxidase complex [GO:0043020]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; superoxide-generating NADPH oxidase activator activity [GO:0016176]; superoxide-generating NADPH oxidase activity [GO:0016175]; respiratory burst [GO:0045730]; superoxide metabolic process [GO:0006801]


uniprotID: Q99519
geneSymbol: NEU1
reactome: R-HSA-1660662;R-HSA-4085001;R-HSA-4341670;R-HSA-6798695;
length: 415
go: ENSG00000204386;
drug: DB00198;
name:
Sialidase-1 (EC 3.2.1.18) (Acetylneuraminyl hydrolase) (G9 sialidase) (Lysosomal sialidase) (N-acetyl-alpha-neuraminidase 1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; specific granule lumen [GO:0035580]; alpha-sialidase activity [GO:0016997]; exo-alpha-(2->3)-sialidase activity [GO:0052794]; exo-alpha-(2->6)-sialidase activity [GO:0052795]; exo-alpha-(2->8)-sialidase activity [GO:0052796]; exo-alpha-sialidase activity [GO:0004308]; ganglioside catabolic process [GO:0006689]; glycosphingolipid metabolic process [GO:0006687]; neutrophil degranulation [GO:0043312]; oligosaccharide catabolic process [GO:0009313]

snps:
rs104893985 rs34712643 rs374556080 rs104893972 rs150302766 rs398123392 rs375104221 rs151177689 rs146850952 rs28940583 rs754068739 rs201684013 rs104893980 rs769765227 rs762400331 rs143868999 rs104893978 rs104893983 rs373311653 rs145177628 rs104893977 rs368320390 rs190549838 rs104893981 rs104893979 rs534846786 rs749996046 rs751458617 rs377573360 rs139301823 rs193922915 rs1310267862 

location:
SUBCELLULAR LOCATION: Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane. Cytoplasmic vesicle. Lysosome {ECO:0000269|PubMed:25153125}. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal lumen, but also on the plasma membrane and in intracellular vesicles.


uniprotID: Q9ULJ8
geneSymbol: PPP1R9A
pdb: 1WF8;
length: 1098
go: ENSG00000158528;
snps: rs10230714
name:
Neurabin-1 (Neurabin-I) (Neural tissue-specific F-actin-binding protein I) (Protein phosphatase 1 regulatory subunit 9A)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell junction [GO:0030054]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine neck [GO:0044326]; filopodium [GO:0030175]; glutamatergic synapse [GO:0098978]; growth cone lamellipodium [GO:1990761]; neuromuscular junction [GO:0031594]; neuronal cell body [GO:0043025]; postsynaptic actin cytoskeleton [GO:0098871]; postsynaptic density [GO:0014069]; actin filament binding [GO:0051015]; GTPase binding [GO:0051020]; ion channel binding [GO:0044325]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein phosphatase 1 binding [GO:0008157]; actin filament organization [GO:0007015]; aging [GO:0007568]; calcium-mediated signaling [GO:0019722]; cellular response to toxic substance [GO:0097237]; excitatory postsynaptic potential [GO:0060079]; negative regulation of long-term synaptic potentiation [GO:1900272]; negative regulation of spontaneous neurotransmitter secretion [GO:1904049]; negative regulation of stress fiber assembly [GO:0051497]; neuron projection development [GO:0031175]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of long-term synaptic depression [GO:1900454]; positive regulation of protein kinase activity [GO:0045860]; postsynaptic actin cytoskeleton organization [GO:0098974]; regulation of actin filament polymerization [GO:0030833]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of filopodium assembly [GO:0051489]; regulation of synapse assembly [GO:0051963]; regulation of synapse structural plasticity [GO:0051823]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Long; IsoId=Q9ULJ8-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9ULJ8-2; Sequence=VSP_011139, VSP_005121; Note=No experimental confirmation available.; Name=3; IsoId=Q9ULJ8-3; Sequence=VSP_044469, VSP_044470, VSP_005121; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q9ULJ8-4; Sequence=VSP_044471; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q9ULJ8-5; Sequence=VSP_053808, VSP_005121; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}.


uniprotID: Q8N987
geneSymbol: NECAB1
length: 351
go: ENSG00000123119;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
N-terminal EF-hand calcium-binding protein 1 (EF-hand calcium-binding protein 1) (Neuronal calcium-binding protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; blastocyst hatching [GO:0001835]; regulation of amyloid precursor protein biosynthetic process [GO:0042984]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N987-1; Sequence=Displayed; Name=2; IsoId=Q8N987-2; Sequence=VSP_024214; 


uniprotID: Q92979
geneSymbol: EMG1
reactome: R-HSA-6790901;R-HSA-6791226;
pdb: 5FAI;
length: 244
go: ENSG00000126749;
snps: rs11064480 rs74435397
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11935223}.
name:
Ribosomal RNA small subunit methyltransferase NEP1 (EC 2.1.1.-) (18S rRNA (pseudouridine(1248)-N1)-methyltransferase) (18S rRNA Psi1248 methyltransferase) (Nucleolar protein EMG1 homolog) (Protein C2f) (Ribosome biogenesis protein NEP1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; rRNA (pseudouridine) methyltransferase activity [GO:0070037]; rRNA binding [GO:0019843]; blastocyst development [GO:0001824]; nucleologenesis [GO:0017126]; ribosomal small subunit biogenesis [GO:0042274]; rRNA base methylation [GO:0070475]; rRNA processing [GO:0006364]


uniprotID: O95139
geneSymbol: NDUFB6
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 128
go: ENSG00000165264;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 (Complex I-B17) (CI-B17) (NADH-ubiquinone oxidoreductase B17 subunit)

sequence:
MTGYTPDEKLRLQQLRELRRRWLKDQELSPREPVLPPQKMGPMEKFWNKFLENKSPWRKMVHGVYKKSIFVFTHVLVPVWIIHYYMKYHVSEKPYGIVEKKSRIFPGDTILETGEVIPPMKEFPDQHH

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial ATP synthesis coupled electron transport [GO:0042775]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95139-1; Sequence=Displayed; Name=2; IsoId=O95139-2; Sequence=VSP_045233; Note=No experimental confirmation available.; 


uniprotID: Q6P4R8
geneSymbol: NFRKB
reactome: R-HSA-5689603;R-HSA-5696394;
pdb: 3U21;4UF5;4UF6;4WLP;
length: 1299
go: ENSG00000170322;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18922472}.
name:
Nuclear factor related to kappa-B-binding protein (DNA-binding protein R kappa-B) (INO80 complex subunit G)

sequence:

opentargets:
Ino80 complex [GO:0031011]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protease binding [GO:0002020]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; inflammatory response [GO:0006954]; protein deubiquitination [GO:0016579]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P4R8-1; Sequence=Displayed; Name=2; IsoId=Q6P4R8-2; Sequence=VSP_017592, VSP_017593; Name=3; IsoId=Q6P4R8-3; Sequence=VSP_017594; Note=No experimental confirmation available.; 


uniprotID: O94916
geneSymbol: NFAT5
pdb: 1IMH;
length: 1531
go: ENSG00000102908;
name:
Nuclear factor of activated T-cells 5 (NF-AT5) (T-cell transcription factor NFAT5) (Tonicity-responsive enhancer-binding protein) (TonE-binding protein) (TonEBP)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; calcineurin-NFAT signaling cascade [GO:0033173]; cytokine production [GO:0001816]; excretion [GO:0007588]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of calcineurin-NFAT signaling cascade [GO:0070884]; signal transduction [GO:0007165]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=C; IsoId=O94916-1; Sequence=Displayed; Name=A; IsoId=O94916-2; Sequence=VSP_058784; Note=The transcript encoding this isoform contains an alternative coding exon 4 which contains 2 stop codons and could target the transcript to nonsense-mediated mRNA decay after the pioneer round of translation, as suggested by the decreased NFAT5 protein levels when the number of exon 4-containing transcripts increases. The insertion of exon 4 is stimulated in the presence of DDX5 and DDX17. Isoform A sequence described in this entry starts at the first methionine downstream of exon 4 last stop codon. An alternative protein sequence can be predicted from this transcript starting at Met-1. This isoform encodes an 81 amino acid-long protein. {ECO:0000269|PubMed:22266867, ECO:0000305}; Name=B; IsoId=O94916-3; Sequence=VSP_058785, VSP_058786, VSP_058787; Note=The transcript encoding this isoform contains an alternative coding exon 4 which contains 2 stop codons and could target the transcript to nonsense-mediated mRNA decay after the pioneer round of translation, as suggested by the decreased NFAT5 protein levels when the number of exon 4-containing transcripts increases. The insertion of exon 4 is stimulated in the presence of DDX5 and DDX17. {ECO:0000269|PubMed:22266867, ECO:0000305}; Name=D; IsoId=O94916-4; Sequence=VSP_058785, VSP_058788; Note=No experimental confirmation available. {ECO:0000244|PubMed:25755297, ECO:0000244|PubMed:28112733}; Name=E; IsoId=O94916-5; Sequence=VSP_058785; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10377394}. Cytoplasm {ECO:0000250|UniProtKB:Q9WV30}. Note=Nuclear distribution increases under hypertonic conditions. {ECO:0000250|UniProtKB:Q9WV30}.


uniprotID: Q9UJF2
geneSymbol: RASAL2
reactome: R-HSA-5658442;R-HSA-6802949;
name: Ras GTPase-activating protein nGAP (RAS protein activator-like 2)
length: 1139
go: ENSG00000075391;
snps: rs765646105
sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; MAPK cascade [GO:0000165]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJF2-1; Sequence=Displayed; Name=2; IsoId=Q9UJF2-2; Sequence=VSP_045777, VSP_045778; Note=No experimental confirmation available.; 


uniprotID: P17677
geneSymbol: GAP43
reactome: R-HSA-373760;
length: 238
go: ENSG00000172020;
snps: rs6291 rs11557762
name:
Neuromodulin (Axonal membrane protein GAP-43) (Growth-associated protein 43) (Neural phosphoprotein B-50) (pp46)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; filopodium membrane [GO:0031527]; GABA-ergic synapse [GO:0098982]; growth cone membrane [GO:0032584]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; calmodulin binding [GO:0005516]; lysophosphatidic acid binding [GO:0035727]; phosphatidylinositol phosphate binding [GO:1901981]; phosphatidylserine binding [GO:0001786]; axon choice point recognition [GO:0016198]; cell fate commitment [GO:0045165]; glial cell differentiation [GO:0010001]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of filopodium assembly [GO:0051489]; regulation of growth [GO:0040008]; regulation of postsynaptic specialization assembly [GO:0099150]; response to wounding [GO:0009611]; tissue regeneration [GO:0042246]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P17677-1; Sequence=Displayed; Name=2; IsoId=P17677-2; Sequence=VSP_042783; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14978216}; Peripheral membrane protein {ECO:0000269|PubMed:14978216}; Cytoplasmic side {ECO:0000269|PubMed:14978216}. Cell projection, growth cone membrane {ECO:0000269|PubMed:14978216}; Peripheral membrane protein {ECO:0000269|PubMed:14978216}; Cytoplasmic side {ECO:0000269|PubMed:14978216}. Cell junction, synapse {ECO:0000269|PubMed:14978216}. Cell projection, filopodium membrane {ECO:0000269|PubMed:14978216}; Peripheral membrane protein {ECO:0000269|PubMed:14978216}. Note=Cytoplasmic surface of growth cone and synaptic plasma membranes.


uniprotID: Q6VVB1
geneSymbol: NHLRC1
reactome: R-HSA-3322077;R-HSA-3785653;
length: 395
go: ENSG00000187566;
name:
E3 ubiquitin-protein ligase NHLRC1 (EC 2.3.2.27) (Malin) (NHL repeat-containing protein 1) (RING-type E3 ubiquitin transferase NHLRC1)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; autophagy [GO:0006914]; glycogen biosynthetic process [GO:0005978]; positive regulation of protein ubiquitination [GO:0031398]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]

snps:
rs28940575 rs757759398 rs779507031 rs28940576 rs10949483 rs950907157 rs769301934 rs200595273 rs121917876 rs879745047 rs757858146 rs137852859 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum. Nucleus. Note=Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus.


uniprotID: Q9BZQ8
geneSymbol: FAM129A
name: Protein Niban (Cell growth-inhibiting gene 39 protein) (Protein FAM129A)
length: 928
go: ENSG00000135842;
snps: rs12750174 rs35704242 rs17313374 rs35601690
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; plasma membrane [GO:0005886]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of translation [GO:0045727]; response to endoplasmic reticulum stress [GO:0034976]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16949643}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: Q9H3R1
geneSymbol: NDST4
reactome: R-HSA-2022928;
length: 872
go: ENSG00000138653;
snps: rs35181627
name:
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 (EC 2.8.2.8) (Glucosaminyl N-deacetylase/N-sulfotransferase 4) (NDST-4) (N-heparan sulfate sulfotransferase 4) (N-HSST 4) [Includes: Heparan sulfate N-deacetylase 4 (EC 3.-.-.-); Heparan sulfate N-sulfotransferase 4 (EC 2.8.2.-)]

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; [heparan sulfate]-glucosamine N-sulfotransferase activity [GO:0015016]; deacetylase activity [GO:0019213]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; heparin biosynthetic process [GO:0030210]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3R1-1; Sequence=Displayed; Name=2; IsoId=Q9H3R1-2; Sequence=VSP_056256, VSP_056257, VSP_056258; Note=No experimental confirmation available.; 


uniprotID: P55769
geneSymbol: SNU13
reactome: R-HSA-6790901;R-HSA-6791226;R-HSA-72163;R-HSA-72165;
pdb: 1E7K;2JNB;2OZB;3JCR;3SIU;3SIV;5O9Z;
length: 128
go: ENSG00000100138;
drug: DB02494;DB07374;
snps: rs1802521
name:
NHP2-like protein 1 (High mobility group-like nuclear protein 2 homolog 1) (OTK27) (SNU13 homolog) (hSNU13) (U4/U6.U5 small nuclear ribonucleoprotein SNU13) (U4/U6.U5 tri-snRNP 15.5 kDa protein) [Cleaved into: NHP2-like protein 1, N-terminally processed]

sequence:
MTEADVNPKAYPLADAHLTKKLLDLVQQSCNYKQLRKGANEATKTLNRGISEFIVMAADAEPLEIILHLPLLCEDKNVPYVFVRSKQALGRACGVSRPVIACSVTIKEGSQLKQQIQSIQQSIERLLV

opentargets:
box C/D snoRNP complex [GO:0031428]; dense fibrillar component [GO:0001651]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; small-subunit processome [GO:0032040]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U4atac snRNP [GO:0005690]; ATPase binding [GO:0051117]; box C/D snoRNA binding [GO:0034512]; RNA binding [GO:0003723]; U3 snoRNA binding [GO:0034511]; U4 snRNA binding [GO:0030621]; U4atac snRNA binding [GO:0030622]; box C/D snoRNP assembly [GO:0000492]; maturation of LSU-rRNA [GO:0000470]; mRNA splicing, via spliceosome [GO:0000398]; rRNA processing [GO:0006364]; single fertilization [GO:0007338]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}. Nucleus, nucleolus {ECO:0000269|PubMed:10593953, ECO:0000269|PubMed:12429849, ECO:0000269|Ref.7}. Note=Concentrated in the dense fibrillar component of the nucleolus. {ECO:0000269|PubMed:10593953}.


uniprotID: Q9Y5B8
geneSymbol: NME7
reactome: R-HSA-380270;R-HSA-380320;
name: Nucleoside diphosphate kinase 7 (NDK 7) (NDP kinase 7) (EC 2.7.4.6) (nm23-H7)
length: 376
go: ENSG00000143156;
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; nucleoside diphosphate kinase activity [GO:0004550]; CTP biosynthetic process [GO:0006241]; GTP biosynthetic process [GO:0006183]; UTP biosynthetic process [GO:0006228]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5B8-1; Sequence=Displayed; Name=2; IsoId=Q9Y5B8-2; Sequence=VSP_040996; 


uniprotID: Q9HC58
geneSymbol: SLC24A3
reactome: R-HSA-425561;
length: 644
go: ENSG00000185052;
snps: rs3790174 rs1569767 rs3790267 rs6136807
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium/potassium/calcium exchanger 3 (Na(+)/K(+)/Ca(2+)-exchange protein 3) (Solute carrier family 24 member 3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calcium channel activity [GO:0005262]; calcium, potassium:sodium antiporter activity [GO:0008273]; symporter activity [GO:0015293]; calcium ion transmembrane transport [GO:0070588]; cellular calcium ion homeostasis [GO:0006874]; ion transport [GO:0006811]


uniprotID: P14543
geneSymbol: NID1
reactome: R-HSA-1474228;R-HSA-3000157;
pdb: 1NDX;
name: Nidogen-1 (NID-1) (Entactin)
length: 1247
go: ENSG00000116962;
drug: DB00013;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
sequence:

opentargets:
basement membrane [GO:0005604]; cell periphery [GO:0071944]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; collagen binding [GO:0005518]; extracellular matrix structural constituent [GO:0005201]; laminin binding [GO:0043236]; laminin-1 binding [GO:0043237]; proteoglycan binding [GO:0043394]; basement membrane organization [GO:0071711]; cell-matrix adhesion [GO:0007160]; extracellular matrix organization [GO:0030198]; glomerular basement membrane development [GO:0032836]; positive regulation of cell-substrate adhesion [GO:0010811]

snps:
rs2071529 rs17857302 rs10733133 rs16833183 rs34406281 rs16833154 rs3738534 rs3738531 rs16833060 rs16833032 rs6662744 rs3213190 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14543-1; Sequence=Displayed; Name=2; IsoId=P14543-2; Sequence=VSP_017254; 


uniprotID: P12036
geneSymbol: NEFH
length: 1026
snps: rs6006164 rs5763269 rs165602
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27040688}.
name:
Neurofilament heavy polypeptide (NF-H) (200 kDa neurofilament protein) (Neurofilament triplet H protein)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; myelin sheath [GO:0043209]; neurofibrillary tangle [GO:0097418]; neurofilament [GO:0005883]; postsynaptic density [GO:0014069]; postsynaptic intermediate filament cytoskeleton [GO:0099160]; Schaffer collateral - CA1 synapse [GO:0098685]; dynein complex binding [GO:0070840]; kinesin binding [GO:0019894]; microtubule binding [GO:0008017]; protein binding, bridging [GO:0030674]; protein kinase binding [GO:0019901]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of postsynaptic intermediate filament cytoskeleton [GO:0099184]; structural molecule activity [GO:0005198]; axon development [GO:0061564]; axonogenesis [GO:0007409]; cell projection assembly [GO:0030031]; cellular response to leukemia inhibitory factor [GO:1990830]; microtubule cytoskeleton organization [GO:0000226]; neurofilament bundle assembly [GO:0033693]; neurofilament cytoskeleton organization [GO:0060052]; peripheral nervous system neuron axonogenesis [GO:0048936]; regulation of organelle transport along microtubule [GO:1902513]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P12036-1; Sequence=Displayed; Name=2; IsoId=P12036-2; Sequence=VSP_036706; Note=No experimental confirmation available.; 


uniprotID: P62166
geneSymbol: NCS1
pdb: 1G8I;2LCP;4GUK;5O9S;
length: 190
go: ENSG00000107130;
name:
Neuronal calcium sensor 1 (NCS-1) (Frequenin homolog) (Frequenin-like protein) (Frequenin-like ubiquitous protein)

sequence:
MGKSNSKLKPEVVEELTRKTYFTEKEVQQWYKGFIKDCPSGQLDAAGFQKIYKQFFPFGDPTKFATFVFNVFDENKDGRIEFSEFIQALSVTSRGTLDEKLRWAFKLYDLDNDGYITRNEMLDIVDAIYQMVGNTVELPEEENTPEKRVDRIFAMMDKNADGKLTLQEFQEGSKADPSIVQALSLYDGLV

opentargets:
calyx of Held [GO:0044305]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; dense core granule [GO:0031045]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic cytosol [GO:0099524]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; presynaptic cytosol [GO:0099523]; calcium ion binding [GO:0005509]; magnesium ion binding [GO:0000287]; protein kinase binding [GO:0019901]; voltage-gated calcium channel activity [GO:0005245]; voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels [GO:0099626]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of exocytosis [GO:0045921]; regulation of neuron projection development [GO:0010975]; regulation of synaptic vesicle exocytosis [GO:2000300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P62166-1; Sequence=Displayed; Name=2; IsoId=P62166-2; Sequence=VSP_046312; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:17555535}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000305}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:11092894, ECO:0000269|PubMed:17555535}. Cytoplasm {ECO:0000250|UniProtKB:P62168}. Cell membrane {ECO:0000269|PubMed:17555535}; Peripheral membrane protein. Membrane {ECO:0000250|UniProtKB:P62168}; Lipid-anchor {ECO:0000305}. Note=Associated with Golgi stacks. Post-synaptic densities of dendrites, and in the pre-synaptic nerve terminal at neuromuscular junctions. {ECO:0000305, ECO:0000305|PubMed:17555535}.


uniprotID: Q0ZGT2
geneSymbol: NEXN
name: Nexilin (F-actin-binding protein) (Nelin)
length: 675
go: ENSG00000162614;
snps: rs387907079 rs1166698 rs146245480 rs9660322 rs137853198 rs137853197
sequence:

opentargets:
axon [GO:0030424]; cytoskeleton [GO:0005856]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; cell-cell adhesion mediator activity [GO:0098632]; structural constituent of muscle [GO:0008307]; axon guidance [GO:0007411]; dendrite self-avoidance [GO:0070593]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; regulation of cell migration [GO:0030334]; regulation of cytoskeleton organization [GO:0051493]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000269|PubMed:8227983}; IsoId=Q0ZGT2-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q0ZGT2-2; Sequence=VSP_052541, VSP_052543; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:14702039}; IsoId=Q0ZGT2-3; Sequence=VSP_052542; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q0ZGT2-4; Sequence=VSP_043439; Note=No experimental confirmation available. {ECO:0000244|PubMed:17081983, ECO:0000244|PubMed:18669648}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9Z2J4}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q9Z2J4}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:Q9Z2J4}. Note=Localizes to the cell-matrix AJ. Not found at the cell-cell AJ. {ECO:0000250|UniProtKB:Q9Z2J4}.


uniprotID: P19878
geneSymbol: NCF2
reactome: R-HSA-1222556;R-HSA-1236973;R-HSA-3299685;R-HSA-4420097;R-HSA-5668599;
pdb: 1E96;1HH8;1K4U;1OEY;1WM5;2DMO;
length: 526
go: ENSG00000116701;
drug: DB00514;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Neutrophil cytosol factor 2 (NCF-2) (67 kDa neutrophil oxidase factor) (NADPH oxidase activator 2) (Neutrophil NADPH oxidase factor 2) (p67-phox)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytosol [GO:0005829]; NADPH oxidase complex [GO:0043020]; nucleolus [GO:0005730]; phagolysosome [GO:0032010]; electron transfer activity [GO:0009055]; protein C-terminus binding [GO:0008022]; Rac GTPase binding [GO:0048365]; superoxide-generating NADPH oxidase activator activity [GO:0016176]; superoxide-generating NADPH oxidase activity [GO:0016175]; cellular defense response [GO:0006968]; innate immune response [GO:0045087]; phagocytosis [GO:0006909]; respiratory burst [GO:0045730]; superoxide anion generation [GO:0042554]; superoxide metabolic process [GO:0006801]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

snps:
rs137854514 rs137854510 rs137854510 rs119103275 rs137854519 rs137854512 rs137854507 rs137854515 rs137854509 rs119103274 rs137854516 rs137854520 rs137854517 rs2274064 rs137854518 rs137854508 rs13306581 rs35937854 rs137854511 rs137854513 rs17849502 rs13306575 rs35012521 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P19878-1; Sequence=Displayed; Name=2; IsoId=P19878-2; Sequence=VSP_045259, VSP_045261; Note=No experimental confirmation available.; Name=3; IsoId=P19878-3; Sequence=VSP_045260; Note=No experimental confirmation available.; Name=4; IsoId=P19878-4; Sequence=VSP_045259; Note=No experimental confirmation available.; 


uniprotID: P80188
geneSymbol: LCN2
reactome: R-HSA-6785807;R-HSA-6798695;R-HSA-6799990;R-HSA-917937;
length: 198
go: ENSG00000148346;
drug: DB01926;DB04043;DB01631;
pdb:
1DFV;1L6M;1NGL;1QQS;1X71;1X89;1X8U;3BY0;3CBC;3CMP;3DSZ;3DTQ;3FW4;3FW5;3HWD;3HWE;3HWF;3HWG;3I0A;3K3L;3PEC;3PED;3T1D;3TF6;3TZS;3U03;3U0D;4GH7;4IAW;4IAX;4K19;4MVI;4MVK;4MVL;4QAE;4ZFX;4ZHC;4ZHD;4ZHF;4ZHG;4ZHH;5JR8;5KHP;5KIC;5KID;5MHH;5N47;5N48;5NKN;6GQZ;6GR0;

name:
Neutrophil gelatinase-associated lipocalin (NGAL) (25 kDa alpha-2-microglobulin-related subunit of MMP-9) (Lipocalin-2) (Oncogene 24p3) (Siderocalin) (p25)

sequence:
MPLGLLWLGLALLGALHAQAQDSTSDLIPAPPLSKVPLQQNFQDNQFQGKWYVVGLAGNAILREDKDPQKMYATIYELKEDKSYNVTSVLFRKKKCDYWIRTFVPGCQPGEFTLGNIKSYPGLTSYLVRVVSTNYNQHAMVFFKKVSQNREYFKITLYGRTKELTSELKENFIRFSKSLGLPENHIVFPVPIDQCIDG

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; specific granule lumen [GO:0035580]; enterobactin binding [GO:1903981]; iron ion binding [GO:0005506]; protease binding [GO:0002020]; protein homodimerization activity [GO:0042803]; small molecule binding [GO:0036094]; antimicrobial humoral response [GO:0019730]; cellular iron ion homeostasis [GO:0006879]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to nutrient levels [GO:0031669]; cellular response to tumor necrosis factor [GO:0071356]; cytokine-mediated signaling pathway [GO:0019221]; defense response to bacterium [GO:0042742]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; innate immune response [GO:0045087]; ion transport [GO:0006811]; neutrophil degranulation [GO:0043312]; positive regulation of cell projection organization [GO:0031346]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of gene expression [GO:0010628]; protein homotrimerization [GO:0070207]; response to herbicide [GO:0009635]; response to mycotoxin [GO:0010046]; response to virus [GO:0009615]; sequestering of iron ion [GO:0097577]; siderophore transport [GO:0015891]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P80188-1; Sequence=Displayed; Name=2; IsoId=P80188-2; Sequence=VSP_039780; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12453413, ECO:0000269|PubMed:27780864, ECO:0000269|PubMed:7683678}. Cytoplasmic granule lumen {ECO:0000269|PubMed:8298140}. Cytoplasmic vesicle lumen {ECO:0000269|PubMed:12453413}. Note=Upon binding to the SLC22A17 (24p3R) receptor, it is internalized (By similarity). Releases the bound iron in the acidic lumen of cytoplasmic vesicles (PubMed:12453413, PubMed:20581821). {ECO:0000250|UniProtKB:P11672, ECO:0000269|PubMed:12453413, ECO:0000269|PubMed:20581821}.


uniprotID: Q9Y2A7
geneSymbol: NCKAP1
reactome: R-HSA-2029482;R-HSA-4420097;R-HSA-5663213;
pdb: 3P8C;4N78;
name: Nck-associated protein 1 (NAP 1) (Membrane-associated protein HEM-2) (p125Nap1)
length: 1128
go: ENSG00000061676;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; filamentous actin [GO:0031941]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; lamellipodium [GO:0030027]; lamellipodium membrane [GO:0031258]; ruffle [GO:0001726]; SCAR complex [GO:0031209]; protein-containing complex binding [GO:0044877]; apoptotic process [GO:0006915]; cell migration [GO:0016477]; cell morphogenesis [GO:0000902]; cell projection assembly [GO:0030031]; central nervous system development [GO:0007417]; cortical actin cytoskeleton organization [GO:0030866]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of Arp2/3 complex-mediated actin nucleation [GO:2000601]; positive regulation of lamellipodium assembly [GO:0010592]; Rac protein signal transduction [GO:0016601]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2A7-1; Sequence=Displayed; Name=2; IsoId=Q9Y2A7-2; Sequence=VSP_036558; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P28660}; Single-pass membrane protein {ECO:0000250|UniProtKB:P28660}; Cytoplasmic side {ECO:0000250|UniProtKB:P28660}. Cell projection, lamellipodium membrane {ECO:0000250|UniProtKB:P28660}; Single-pass membrane protein {ECO:0000250|UniProtKB:P28660}; Cytoplasmic side {ECO:0000250|UniProtKB:P28660}. Note=At the interface between the lamellipodial actin meshwork and the membrane. {ECO:0000250|UniProtKB:P28660}.


uniprotID: O60361
geneSymbol: NME2P1
reactome: R-HSA-499943;
name: Putative nucleoside diphosphate kinase (NDK) (NDP kinase) (EC 2.7.4.6)
length: 137
sequence:
MQCGLVGKIIKRFEQKGFRLVAMKFLPASEEHLKQHYIDLKDRPFFPGLVKYMNSGPVVAMVWEGLNVVKTGRVMLGETNPADSKPGTIRGDFCIQVGRNIIHGSDSVKSAEKEISLRFKPEELVDYKSCAHDWVYE

opentargets:
extracellular exosome [GO:0070062]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; nucleoside diphosphate kinase activity [GO:0004550]; CTP biosynthetic process [GO:0006241]; GTP biosynthetic process [GO:0006183]; UTP biosynthetic process [GO:0006228]


uniprotID: Q8TDX7
geneSymbol: NEK7
reactome: R-HSA-2980767;R-HSA-3301854;
pdb: 2WQM;2WQN;5DE2;6GT1;
length: 302
go: ENSG00000151414;
snps: rs55833332
name:
Serine/threonine-protein kinase Nek7 (EC 2.7.11.1) (Never in mitosis A-related kinase 7) (NimA-related protein kinase 7)

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein phosphorylation [GO:0006468]; regulation of mitotic cell cycle [GO:0007346]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDX7-1; Sequence=Displayed; Name=2; IsoId=Q8TDX7-2; Sequence=VSP_041243, VSP_041244; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Present at centrosome throughout the cell cycle. Also detected at spindle midzone of the anaphase cells and eventually concentrates at the midbody.


uniprotID: P29120
geneSymbol: PCSK1
reactome: R-HSA-209952;R-HSA-264876;R-HSA-381771;R-HSA-400511;R-HSA-422085;
length: 753
go: ENSG00000175426;
drug: DB00030;DB00071;
snps: rs1799904 rs6232 rs137852824 rs137852821 rs6234 rs6235
name:
Neuroendocrine convertase 1 (NEC 1) (EC 3.4.21.93) (Prohormone convertase 1) (Proprotein convertase 1) (PC1)

sequence:

opentargets:
extracellular space [GO:0005615]; secretory granule lumen [GO:0034774]; transport vesicle [GO:0030133]; identical protein binding [GO:0042802]; serine-type endopeptidase activity [GO:0004252]; cell-cell signaling [GO:0007267]; peptide biosynthetic process [GO:0043043]; peptide hormone processing [GO:0016486]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29120-1; Sequence=Displayed; Name=2; IsoId=P29120-2; Sequence=VSP_046100; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules.


uniprotID: O00217
geneSymbol: NDUFS8
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 210
go: ENSG00000110717;
drug: DB00157;
snps: rs28939679 rs121912638
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I-23kD) (CI-23kD) (NADH-ubiquinone oxidoreductase 23 kDa subunit) (TYKY subunit)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; 4 iron, 4 sulfur cluster binding [GO:0051539]; metal ion binding [GO:0046872]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; aerobic respiration [GO:0009060]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to oxidative stress [GO:0006979]


uniprotID: Q92886
geneSymbol: NEUROG1
length: 237
go: ENSG00000181965;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Neurogenin-1 (NGN-1) (Class A basic helix-loop-helix protein 6) (bHLHa6) (Neurogenic basic-helix-loop-helix protein) (Neurogenic differentiation factor 3) (NeuroD3)

sequence:

opentargets:
nucleus [GO:0005634]; perikaryon [GO:0043204]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein homodimerization activity [GO:0042803]; sequence-specific double-stranded DNA binding [GO:1990837]; auditory behavior [GO:0031223]; cell fate commitment [GO:0045165]; cochlea development [GO:0090102]; cochlea morphogenesis [GO:0090103]; craniofacial suture morphogenesis [GO:0097094]; genitalia development [GO:0048806]; genitalia morphogenesis [GO:0035112]; hard palate morphogenesis [GO:1905748]; inner ear development [GO:0048839]; inner ear morphogenesis [GO:0042472]; learned vocalization behavior [GO:0098583]; mastication [GO:0071626]; negative regulation of relaxation of muscle [GO:1901078]; negative regulation of saliva secretion [GO:1905747]; nervous system development [GO:0007399]; neuromuscular process controlling balance [GO:0050885]; neuron differentiation [GO:0030182]; peristalsis [GO:0030432]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of exit from mitosis [GO:0031536]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of muscle organ development [GO:0048634]; regulation of transcription by RNA polymerase II [GO:0006357]; thorax and anterior abdomen determination [GO:0007356]; trigeminal nerve development [GO:0021559]; vestibulocochlear nerve formation [GO:0021650]


uniprotID: Q8NCY6
geneSymbol: MSANTD4
length: 345
go: ENSG00000170903;
opentargets: nucleus [GO:0005634]
name:
Myb/SANT-like DNA-binding domain-containing protein 4 (Myb/SANT-like DNA-binding domain containing 4 with coiled-coils)

sequence:


uniprotID: P80297
geneSymbol: MT1X
reactome: R-HSA-5661231;
name: Metallothionein-1X (MT-1X) (Metallothionein-IX) (MT-IX)
sequence: MDPNCSCSPVGSCACAGSCKCKECKCTSCKKSCCSCCPVGCAKCAQGCICKGTSDKCSCCA
length: 61
go: ENSG00000187193;
opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; metal ion binding [GO:0046872]; zinc ion binding [GO:0008270]; cellular response to cadmium ion [GO:0071276]; cellular response to copper ion [GO:0071280]; cellular response to erythropoietin [GO:0036018]; cellular response to zinc ion [GO:0071294]; cellular zinc ion homeostasis [GO:0006882]; detoxification of copper ion [GO:0010273]; negative regulation of growth [GO:0045926]; response to metal ion [GO:0010038]


uniprotID: Q9BTX1
geneSymbol: NDC1
name: Nucleoporin NDC1 (hNDC1) (Transmembrane protein 48)
length: 674
go: ENSG00000058804;
snps: rs17849721
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nuclear pore transmembrane ring [GO:0070762]; plasma membrane [GO:0005886]; structural constituent of nuclear pore [GO:0017056]; mRNA export from nucleus [GO:0006406]; nuclear pore complex assembly [GO:0051292]; nuclear pore distribution [GO:0031081]; nuclear pore organization [GO:0006999]; protein transport [GO:0015031]; spermatogenesis [GO:0007283]; synapsis [GO:0007129]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9BTX1-1; Sequence=Displayed; Name=2; IsoId=Q9BTX1-2; Sequence=VSP_018396; Note=No experimental confirmation available.; Name=3; IsoId=Q9BTX1-3; Sequence=VSP_018397; Note=No experimental confirmation available.; Name=4; IsoId=Q9BTX1-4; Sequence=VSP_018398, VSP_018399; Note=No experimental confirmation available.; Name=5; IsoId=Q9BTX1-5; Sequence=VSP_055332; Note=No experimental confirmation available.; Name=6; IsoId=Q9BTX1-6; Sequence=VSP_055331; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex. Nucleus membrane; Multi-pass membrane protein. Note=Central core structure of the nuclear pore complex.


uniprotID: O75438
geneSymbol: NDUFB1
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
sequence: MVNLLQIVRDHWVHVLVPMGFVIGCYLDRKSDERLTAFRNKSMLFKRELQPSEEVTWK
length: 58
go: ENSG00000183648;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 (Complex I-MNLL) (CI-MNLL) (NADH-ubiquinone oxidoreductase MNLL subunit)

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75438-1; Sequence=Displayed; Name=2; IsoId=O75438-2; Sequence=VSP_037859; 


uniprotID: O00533
geneSymbol: CHL1
reactome: R-HSA-447041;
length: 1208
go: ENSG00000134121;
snps: rs2272522 rs13060847 rs6442827
name:
Neural cell adhesion molecule L1-like protein (Close homolog of L1) [Cleaved into: Processed neural cell adhesion molecule L1-like protein]

sequence:

opentargets:
apical part of cell [GO:0045177]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; protease binding [GO:0002020]; adult locomotory behavior [GO:0008344]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; cognition [GO:0050890]; exploration behavior [GO:0035640]; negative regulation of neuron apoptotic process [GO:0043524]; neuron migration [GO:0001764]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00533-1; Sequence=Displayed; Name=2; IsoId=O00533-2; Sequence=VSP_020082; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Soluble forms produced by cleavage/shedding also exist. {ECO:0000250}.; SUBCELLULAR LOCATION: Processed neural cell adhesion molecule L1-like protein: Secreted, extracellular space, extracellular matrix {ECO:0000250}.


uniprotID: O43639
geneSymbol: NCK2
reactome: R-HSA-186763;R-HSA-373753;R-HSA-3928664;R-HSA-428540;R-HSA-4420097;R-HSA-8985801;
pdb: 1U5S;1WX6;1Z3K;2B86;2CIA;2FRW;2FRY;2JXB;4E6R;
length: 380
go: ENSG00000071051;
name:
Cytoplasmic protein NCK2 (Growth factor receptor-bound protein 4) (NCK adaptor protein 2) (Nck-2) (SH2/SH3 adaptor protein NCK-beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; postsynaptic density [GO:0014069]; vesicle membrane [GO:0012506]; cytoskeletal adaptor activity [GO:0008093]; phosphotyrosine residue binding [GO:0001784]; protein-containing complex binding [GO:0044877]; receptor signaling complex scaffold activity [GO:0030159]; scaffold protein binding [GO:0097110]; SH3/SH2 adaptor activity [GO:0005070]; actin filament organization [GO:0007015]; cell migration [GO:0016477]; dendritic spine development [GO:0060996]; ephrin receptor signaling pathway [GO:0048013]; epidermal growth factor receptor signaling pathway [GO:0007173]; immunological synapse formation [GO:0001771]; lamellipodium assembly [GO:0030032]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation [GO:1903912]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of PERK-mediated unfolded protein response [GO:1903898]; negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990441]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902237]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of translation in response to endoplasmic reticulum stress [GO:0036493]; regulation of epidermal growth factor-activated receptor activity [GO:0007176]; signal complex assembly [GO:0007172]; signal transduction [GO:0007165]; T cell activation [GO:0042110]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16835242}. Endoplasmic reticulum {ECO:0000269|PubMed:16835242}.


uniprotID: B4DH59
geneSymbol: NBPF26
name: Neuroblastoma breakpoint family member 26
length: 902
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:


uniprotID: Q8NBZ9
geneSymbol: NEXN-AS1
name: Putative uncharacterized protein NEXN-AS1 (NEXN antisense RNA 1)
length: 246
sequence:


uniprotID: Q9Y6Q9
geneSymbol: NCOA3
reactome: R-HSA-1989781;R-HSA-381340;R-HSA-5617472;R-HSA-5687128;R-HSA-9018519;
pdb: 1KBH;3L3X;3L3Z;
length: 1424
go: ENSG00000124151;
name:
Nuclear receptor coactivator 3 (NCoA-3) (EC 2.3.1.48) (ACTR) (Amplified in breast cancer 1 protein) (AIB-1) (CBP-interacting protein) (pCIP) (Class E basic helix-loop-helix protein 42) (bHLHe42) (Receptor-associated coactivator 3) (RAC-3) (Steroid receptor coactivator protein 3) (SRC-3) (Thyroid hormone receptor activator molecule 1) (TRAM-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; androgen receptor binding [GO:0050681]; disordered domain specific binding [GO:0097718]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase activity [GO:0004402]; nuclear hormone receptor binding [GO:0035257]; nuclear receptor binding [GO:0016922]; nuclear receptor transcription coactivator activity [GO:0030374]; protein heterodimerization activity [GO:0046982]; protein N-terminus binding [GO:0047485]; RNA polymerase II complex binding [GO:0000993]; thyroid hormone receptor binding [GO:0046966]; transcription coactivator activity [GO:0003713]; androgen receptor signaling pathway [GO:0030521]; cell dedifferentiation [GO:0043697]; cellular response to estradiol stimulus [GO:0071392]; cellular response to hormone stimulus [GO:0032870]; positive regulation of gene expression [GO:0010628]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of stem cell population maintenance [GO:1902459]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; receptor transactivation [GO:0035624]; regulation of RNA biosynthetic process [GO:2001141]; regulation of stem cell division [GO:2000035]

snps:
rs6094752 rs72645252 rs6094756 rs1052765 rs72645272 rs2230781 rs2230782 rs2230783 rs72645299 rs72645298 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9Y6Q9-1; Sequence=Displayed; Name=2; IsoId=Q9Y6Q9-2; Sequence=VSP_003407; Name=3; IsoId=Q9Y6Q9-3; Sequence=VSP_003405, VSP_003407, VSP_003408; Name=4; IsoId=Q9Y6Q9-4; Sequence=VSP_003405, VSP_003406, VSP_003407, VSP_003408; Name=5; IsoId=Q9Y6Q9-5; Sequence=VSP_003408; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mainly cytoplasmic and weakly nuclear. Upon TNF activation and subsequent phosphorylation, it translocates from the cytoplasm to the nucleus.


uniprotID: Q9UHQ9
geneSymbol: CYB5R1
reactome: R-HSA-114608;R-HSA-1237044;
length: 305
go: ENSG00000159348;
drug: DB03147;
snps: rs2232842
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
NADH-cytochrome b5 reductase 1 (b5R.1) (EC 1.6.2.2) (Humb5R2) (NAD(P)H:quinone oxidoreductase type 3 polypeptide A2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; cytochrome-b5 reductase activity, acting on NAD(P)H [GO:0004128]; FAD binding [GO:0071949]; bicarbonate transport [GO:0015701]; platelet degranulation [GO:0002576]; sterol biosynthetic process [GO:0016126]


uniprotID: O15453
geneSymbol: NBR2
name: Next to BRCA1 gene 2 protein (Neighbor of BRCA1 gene 2 protein)
length: 112
snps: rs11657835
sequence:
MWKGGRSHPFLPCSSRRAGSGGQLDSILPHQSPAWGPWGCKDLSSGVPSFLTSSILWKSAVFAEDNGLKIHLCSYKRDDLVLFYDCTSFVLTFGPSPWFLTQGFLNPLEFSA


uniprotID: O95944
geneSymbol: NCR2
reactome: R-HSA-198933;R-HSA-2172127;
pdb: 1HKF;
length: 276
go: ENSG00000096264;
snps: rs9471577 rs2236369 rs2273961 rs2273962
name:
Natural cytotoxicity triggering receptor 2 (Lymphocyte antigen 95 homolog) (NK cell-activating receptor) (Natural killer cell p44-related protein) (NK-p44) (NKp44) (CD antigen CD336)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; transmembrane signaling receptor activity [GO:0004888]; cellular defense response [GO:0006968]; innate immune response [GO:0045087]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95944-1; Sequence=Displayed; Name=2; Synonyms=NKp44RG2; IsoId=O95944-2; Sequence=VSP_010409, VSP_010410; Note=No experimental confirmation available.; Name=3; Synonyms=NKp44RG1; IsoId=O95944-3; Sequence=VSP_010410; Note=No experimental confirmation available.; 


uniprotID: P56730
geneSymbol: PRSS12
name: Neurotrypsin (EC 3.4.21.-) (Leydin) (Motopsin) (Serine protease 12)
length: 875
go: ENSG00000164099;
snps: rs28661939 rs17594503
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
axon [GO:0030424]; cytoplasmic vesicle [GO:0031410]; dendrite [GO:0030425]; plasma membrane [GO:0005886]; synaptic cleft [GO:0043083]; terminal bouton [GO:0043195]; scavenger receptor activity [GO:0005044]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; exocytosis [GO:0006887]; zymogen activation [GO:0031638]


uniprotID: Q9HCH0
geneSymbol: NCKAP5L
name: Nck-associated protein 5-like (NCKAP5-like) (Centrosomal protein of 169 kDa) (Cep169)
length: 1330
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; microtubule plus-end [GO:0035371]; microtubule bundle formation [GO:0001578]; microtubule depolymerization [GO:0007019]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HCH0-1; Sequence=Displayed; Name=2; IsoId=Q9HCH0-2; Sequence=VSP_025678; Note=No experimental confirmation available.; Name=4; IsoId=Q9HCH0-4; Sequence=VSP_033818, VSP_033819; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCH0-3; Sequence=VSP_025677; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:26482847, ECO:0000269|PubMed:26485573, ECO:0000269|PubMed:26549230}. Note=Localizes to microtubule plus ends (PubMed:26485573, PubMed:26482847). Associates with centrosomes during interphase, but dissociates from these structures from the onset of mitosis (PubMed:26549230). {ECO:0000269|PubMed:26482847, ECO:0000269|PubMed:26485573, ECO:0000269|PubMed:26549230}.


uniprotID: Q330K2
geneSymbol: NDUFAF6
reactome: R-HSA-6799198;
name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 (Putative phytoene synthase)
length: 333
go: ENSG00000156170;
snps: rs1057519085 rs1057519084 rs137853184 rs201732170 rs768273248 rs1057519086
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; transferase activity [GO:0016740]; biosynthetic process [GO:0009058]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q330K2-1; Sequence=Displayed; Name=2; IsoId=Q330K2-2; Sequence=VSP_026230; Name=3; IsoId=Q330K2-3; Sequence=VSP_026231, VSP_026232; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus.


uniprotID: O43678
geneSymbol: NDUFA2
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 1S3A;5XTB;5XTD;5XTH;5XTI;
sequence: MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSDVQPKLWARYAFGQETNVPLNNFSADQVTRALENVLSGKA
length: 99
go: ENSG00000131495;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 (Complex I-B8) (CI-B8) (NADH-ubiquinone oxidoreductase B8 subunit)

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex I [GO:0005747]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; blastocyst hatching [GO:0001835]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43678-1; Sequence=Displayed; Name=2; IsoId=O43678-2; Sequence=VSP_045479; 


uniprotID: O95178
geneSymbol: NDUFB2
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 105
go: ENSG00000090266;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial (Complex I-AGGG) (CI-AGGG) (NADH-ubiquinone oxidoreductase AGGG subunit)

sequence:
MSALTRLASFARVGGRLFRSGCARTAGDGGVRHAGGGVHIEPRYRQFPQLTRSQVFQSEFFSGLMWFWILWRFWHDSEEVLGHFPYPDPSQWTDEELGIPPDDED

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]


uniprotID: O96000
geneSymbol: NDUFB10
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 172
go: ENSG00000140990;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 (Complex I-PDSW) (CI-PDSW) (NADH-ubiquinone oxidoreductase PDSW subunit)

sequence:
MPDSWDKDVYPEPPRRTPVQPNPIVYMMKAFDLIVDRPVTLVREFIERQHAKNRYYYYHRQYRRVPDITECKEEDIMCMYEAEMQWKRDYKVDQEIINIMQDRLKACQQREGQNYQQNCIKEVEQFTQVAKAYQDRYQDLGAYSSARKCLAKQRQRMLQERKAAKEAAAATS

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O96000-1; Sequence=Displayed; Name=2; IsoId=O96000-2; Sequence=VSP_056555; Note=No experimental confirmation available.; 


uniprotID: O00483
geneSymbol: NDUFA4
reactome: R-HSA-5628897;R-HSA-611105;
sequence: MLRQIIGQAKKHPSLIPLFVFIGTGATGATLYLLRLALFNPDVCWDRNNPEPWNKLGPNDQYKFYSVNVDYSKLKKERPDF
length: 81
go: ENSG00000189043;
drug: DB00157;
name:
Cytochrome c oxidase subunit NDUFA4 (Complex I-MLRQ) (CI-MLRQ) (NADH-ubiquinone oxidoreductase MLRQ subunit)

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrial respiratory chain complex IV [GO:0005751]; mitochondrion [GO:0005739]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; protein-containing complex binding [GO:0044877]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; proton transmembrane transport [GO:1902600]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23746447}; Peripheral membrane protein {ECO:0000269|PubMed:23746447}; Matrix side {ECO:0000269|PubMed:23746447}.


uniprotID: A6PVI3
geneSymbol: NCBP2L
name: Nuclear cap-binding protein subunit 2-like
length: 153
go: ENSG00000170935;
sequence:
MSKDLKILCKDPALELSCYRDHQFSGRKFQQEKLLKESSTLNMGNLSFYTTEEKIHELFSRSDIRNIFMGLDKIKKTACGFCFVECHNRADAENAMRFLTGTCLDEWIICTDWDVGFREGQQYGRGKSGGQVRDEFREDFHSGRGGFGRQTQI

opentargets:
nuclear cap binding complex [GO:0005846]; RNA cap binding [GO:0000339]; mRNA cis splicing, via spliceosome [GO:0045292]; mRNA splicing, via spliceosome [GO:0000398]


uniprotID: O60934
geneSymbol: NBN
pdb: 5WQD;
name: Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1)
length: 754
go: ENSG00000104320;
reactome:
R-HSA-2559586;R-HSA-5685938;R-HSA-5685939;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-6804756;R-HSA-69473;R-HSA-912446;

sequence:

opentargets:
cytosol [GO:0005829]; Mre11 complex [GO:0030870]; nuclear chromosome, telomeric region [GO:0000784]; nuclear inclusion body [GO:0042405]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; replication fork [GO:0005657]; site of double-strand break [GO:0035861]; damaged DNA binding [GO:0003684]; protein N-terminus binding [GO:0047485]; transcription factor binding [GO:0008134]; blastocyst growth [GO:0001832]; cell cycle arrest [GO:0007050]; cell proliferation [GO:0008283]; DNA damage checkpoint [GO:0000077]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; DNA double-strand break processing [GO:0000729]; DNA duplex unwinding [GO:0032508]; DNA replication [GO:0006260]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; intrinsic apoptotic signaling pathway [GO:0097193]; isotype switching [GO:0045190]; meiotic cell cycle [GO:0051321]; mitotic cell cycle checkpoint [GO:0007093]; mitotic G2 DNA damage checkpoint [GO:0007095]; negative regulation of telomere capping [GO:1904354]; neuromuscular process controlling balance [GO:0050885]; positive regulation of kinase activity [GO:0033674]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of telomere maintenance [GO:0032206]; regulation of DNA-dependent DNA replication initiation [GO:0030174]; signal transduction in response to DNA damage [GO:0042770]; t-circle formation [GO:0090656]; telomere capping [GO:0016233]; telomere maintenance [GO:0000723]; telomere maintenance via telomere trimming [GO:0090737]; telomeric 3' overhang formation [GO:0031860]

snps:
rs12721593 rs61753720 rs13312858 rs769414 rs773119929 rs61754966 rs1805794 rs61754796 rs34767364 rs769416 rs769420 rs34120922 rs3026268 rs142334798 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10783165, ECO:0000269|PubMed:26215093}. Nucleus, PML body {ECO:0000269|PubMed:12470659, ECO:0000269|PubMed:15916964}. Chromosome, telomere {ECO:0000269|PubMed:10888888}. Chromosome {ECO:0000269|PubMed:26215093}. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000269|PubMed:10783165, ECO:0000269|PubMed:26215093}.


uniprotID: Q15843
geneSymbol: NEDD8
reactome: R-HSA-2173789;R-HSA-5689603;R-HSA-8856825;R-HSA-8951664;R-HSA-917937;
pdb: 1NDD;1R4M;1R4N;1XT9;2BKR;2KO3;2N7K;2NVU;3DBH;3DBL;3DBR;3DQV;3GZN;4F8C;4FBJ;4HCP;4P5O;
sequence: MLIKVKTLTGKEIEIDIEPTDKVERIKERVEEKEGIPPQQQRLIYSGKQMNDEKTAADYKILGGSVLHLVLALRGGGGLRQ
length: 81
go: ENSG00000129559;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9353319}. Note=Mainly nuclear.
name:
NEDD8 (Neddylin) (Neural precursor cell expressed developmentally down-regulated protein 8) (NEDD-8) (Ubiquitin-like protein Nedd8)

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein tag [GO:0031386]; ubiquitin protein ligase binding [GO:0031625]; anatomical structure morphogenesis [GO:0009653]; cellular iron ion homeostasis [GO:0006879]; cellular protein modification process [GO:0006464]; modification-dependent protein catabolic process [GO:0019941]; post-translational protein modification [GO:0043687]; protein deubiquitination [GO:0016579]; protein localization [GO:0008104]; protein neddylation [GO:0045116]; proteolysis [GO:0006508]; regulation of proteolysis [GO:0030162]; regulation of transcription by RNA polymerase II [GO:0006357]; response to organic cyclic compound [GO:0014070]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q92859
geneSymbol: NEO1
reactome: R-HSA-373752;R-HSA-375170;
pdb: 1X5F;1X5G;1X5H;1X5I;1X5J;1X5K;3P4L;
name: Neogenin (Immunoglobulin superfamily DCC subclass member 2)
length: 1461
go: ENSG00000067141;
snps: rs4467039
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; plasma membrane protein complex [GO:0098797]; co-receptor binding [GO:0039706]; signaling receptor activity [GO:0038023]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; iron ion homeostasis [GO:0055072]; positive regulation of BMP signaling pathway [GO:0030513]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q92859-1; Sequence=Displayed; Name=2; IsoId=Q92859-2; Sequence=VSP_002593; Name=3; IsoId=Q92859-3; Sequence=VSP_043330; Note=No experimental confirmation available.; Name=4; IsoId=Q92859-4; Sequence=VSP_047134; 


uniprotID: O75489
geneSymbol: NDUFS3
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 264
go: ENSG00000213619;
drug: DB00997;DB00157;
snps: rs9600
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I-30kD) (CI-30kD) (NADH-ubiquinone oxidoreductase 30 kDa subunit)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nuclear body [GO:0016604]; electron transfer activity [GO:0009055]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; NADH dehydrogenase activity [GO:0003954]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; negative regulation of cell growth [GO:0030308]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; reactive oxygen species metabolic process [GO:0072593]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75489-1; Sequence=Displayed; Name=2; IsoId=O75489-2; Sequence=VSP_057065, VSP_057066; Note=No experimental confirmation available.; 


uniprotID: Q9P032
geneSymbol: NDUFAF4
reactome: R-HSA-6799198;
length: 175
go: ENSG00000123545;
snps: rs63751061
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 (Hormone-regulated proliferation-associated protein of 20 kDa)

sequence:
MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQISLYPEVKGEIARKDEKLLSFLKDVYVDSKDPVSSLQVKAAETCQEPKEFRLPKDHHFDMINIKSIPKGKISIVEALTLLNNHKLFPETWTAEKIMQEYQLEQKDVNSLLKYFVTFEVEIFPPEDKKAIRSK

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; calmodulin binding [GO:0005516]; mitochondrial respiratory chain complex I assembly [GO:0032981]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18179882}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: P01178
geneSymbol: OXT
reactome: R-HSA-388479;R-HSA-416476;
name: Oxytocin-neurophysin 1 (OT-NPI) [Cleaved into: Oxytocin (Ocytocin); Neurophysin 1]
length: 125
go: ENSG00000101405;
drug: DB00107;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MAGPSLACCLLGLLALTSACYIQNCPLGGKRAAPDLDVRKCLPCGPGGKGRCFGPNICCAEELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAVLGLCCSPDGCHADPACDAEATFSQR

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; terminal bouton [GO:0043195]; neurohypophyseal hormone activity [GO:0005185]; oxytocin receptor binding [GO:0031855]; drinking behavior [GO:0042756]; eating behavior [GO:0042755]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; grooming behavior [GO:0007625]; heart development [GO:0007507]; hyperosmotic salinity response [GO:0042538]; male mating behavior [GO:0060179]; maternal aggressive behavior [GO:0002125]; maternal behavior [GO:0042711]; memory [GO:0007613]; negative regulation of blood pressure [GO:0045776]; negative regulation of gastric acid secretion [GO:0060455]; negative regulation of urine volume [GO:0035811]; positive regulation of blood pressure [GO:0045777]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of female receptivity [GO:0045925]; positive regulation of hindgut contraction [GO:0060450]; positive regulation of norepinephrine secretion [GO:0010701]; positive regulation of ossification [GO:0045778]; positive regulation of penile erection [GO:0060406]; positive regulation of prostaglandin secretion [GO:0032308]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission [GO:0050806]; positive regulation of uterine smooth muscle contraction [GO:0070474]; regulation of heart rate [GO:0002027]; regulation of sensory perception of pain [GO:0051930]; response to activity [GO:0014823]; response to amphetamine [GO:0001975]; response to cAMP [GO:0051591]; response to cocaine [GO:0042220]; response to electrical stimulus [GO:0051602]; response to estradiol [GO:0032355]; response to ether [GO:0045472]; response to food [GO:0032094]; response to glucocorticoid [GO:0051384]; response to peptide hormone [GO:0043434]; response to progesterone [GO:0032570]; response to prostaglandin E [GO:0034695]; response to retinoic acid [GO:0032526]; response to sucrose [GO:0009744]; signal transduction [GO:0007165]; sleep [GO:0030431]; social behavior [GO:0035176]; sperm ejaculation [GO:0042713]


uniprotID: Q9GZM8
geneSymbol: NDEL1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 2V66;
name: Nuclear distribution protein nudE-like 1 (Protein Nudel) (Mitosin-associated protein 1)
length: 345
go: ENSG00000166579;
sequence:

opentargets:
axon cytoplasm [GO:1904115]; axon hillock [GO:0043203]; cell leading edge [GO:0031252]; central region of growth cone [GO:0090724]; centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; kinetochore [GO:0000776]; microtubule [GO:0005874]; neurofilament cytoskeleton [GO:0060053]; nuclear envelope [GO:0005635]; spindle [GO:0005819]; synaptic vesicle [GO:0008021]; alpha-tubulin binding [GO:0043014]; beta-tubulin binding [GO:0048487]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; oligopeptidase activity [GO:0070012]; protein-containing complex binding [GO:0044877]; activation of GTPase activity [GO:0090630]; cell migration [GO:0016477]; central nervous system neuron axonogenesis [GO:0021955]; centrosome localization [GO:0051642]; cerebral cortex radially oriented cell migration [GO:0021799]; chromosome segregation [GO:0007059]; establishment of chromosome localization [GO:0051303]; establishment of mitotic spindle orientation [GO:0000132]; inner cell mass cell proliferation [GO:0001833]; insulin receptor signaling pathway [GO:0008286]; lysosome localization [GO:0032418]; microtubule nucleation [GO:0007020]; mitotic centrosome separation [GO:0007100]; neurofilament cytoskeleton organization [GO:0060052]; neuron migration [GO:0001764]; neuron projection extension [GO:1990138]; nuclear envelope disassembly [GO:0051081]; positive regulation of axon extension [GO:0045773]; positive regulation of axon regeneration [GO:0048680]; positive regulation of GTPase activity [GO:0043547]; positive regulation of ruffle assembly [GO:1900029]; regulation of intracellular protein transport [GO:0033157]; regulation of microtubule motor activity [GO:2000574]; regulation of neuron projection development [GO:0010975]; retrograde axonal transport [GO:0008090]; vesicle transport along microtubule [GO:0047496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9GZM8-1; Sequence=Displayed; Name=2; IsoId=Q9GZM8-2; Sequence=VSP_019310; Note=No experimental confirmation available.; Name=3; IsoId=Q9GZM8-3; Sequence=VSP_047509; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Note=Localizes to the cell body of the motor neurons and colocalizes with assembled neurofilaments within axonal processes. Localizes to the microtubules of the manchette in elongated spermatids. Colocalizes with DISC1 in the perinuclear region, including the centrosome (By similarity). Localizes to the interphase centrosome and the mitotic spindle. Localizes to the kinetochore in a CENPF-dependent manner. {ECO:0000250}.


uniprotID: O75380
geneSymbol: NDUFS6
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 124
go: ENSG00000145494;
drug: DB00157;
snps: rs267606913
name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial (Complex I-13kD-A) (CI-13kD-A) (NADH-ubiquinone oxidoreductase 13 kDa-A subunit)

sequence:
MAAAMTFCRLLNRCGEAARSLPLGARCFGVRVSPTGEKVTHTGQVYDDKDYRRIRFVGRQKEVNENFAIDLIAEQPVSEVETRVIACDGGGGALGHPKVYINLDKETKTGTCGYCGLQFRQHHH

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; electron transfer activity [GO:0009055]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; cardiovascular system development [GO:0072358]; fatty acid metabolic process [GO:0006631]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; mitochondrion morphogenesis [GO:0070584]; multicellular organism aging [GO:0010259]; multicellular organism growth [GO:0035264]; muscle contraction [GO:0006936]; reproductive system development [GO:0061458]


uniprotID: P16435
geneSymbol: POR
reactome: R-HSA-211897;
pdb: 1B1C;3FJO;3QE2;3QFC;3QFR;3QFS;3QFT;5EMN;5FA6;
name: NADPH--cytochrome P450 reductase (CPR) (P450R) (EC 1.6.2.4)
length: 677
drug: DB03461;DB00865;DB00694;DB00997;DB01466;DB03147;DB00166;DB00305;DB00665;DB00698;DB03247;
snps: rs1057868
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; mitochondrion [GO:0005739]; cytochrome-b5 reductase activity, acting on NAD(P)H [GO:0004128]; electron transfer activity [GO:0009055]; enzyme binding [GO:0019899]; flavin adenine dinucleotide binding [GO:0050660]; FMN binding [GO:0010181]; hydrolase activity [GO:0016787]; iron-cytochrome-c reductase activity [GO:0047726]; NADP binding [GO:0050661]; NADPH-hemoprotein reductase activity [GO:0003958]; nitric oxide dioxygenase activity [GO:0008941]; oxidoreductase activity [GO:0016491]; carnitine metabolic process [GO:0009437]; cellular organofluorine metabolic process [GO:0090346]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; cellular response to peptide hormone stimulus [GO:0071375]; demethylation [GO:0070988]; fatty acid oxidation [GO:0019395]; flavonoid metabolic process [GO:0009812]; internal peptidyl-lysine acetylation [GO:0018393]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of lipase activity [GO:0060192]; nitrate catabolic process [GO:0043602]; nitric oxide catabolic process [GO:0046210]; oxidation-reduction process [GO:0055114]; positive regulation of cholesterol biosynthetic process [GO:0045542]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of monooxygenase activity [GO:0032770]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of steroid hormone biosynthetic process [GO:0090031]; regulation of growth plate cartilage chondrocyte proliferation [GO:0003420]; response to drug [GO:0042493]; response to hormone [GO:0009725]; response to nutrient [GO:0007584]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03212}; Single-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03212}; Cytoplasmic side {ECO:0000255|HAMAP-Rule:MF_03212}.


uniprotID: Q6BCY4
geneSymbol: CYB5R2
reactome: R-HSA-1237044;
name: NADH-cytochrome b5 reductase 2 (b5R.2) (EC 1.6.2.2)
length: 276
go: ENSG00000166394;
snps: rs11041525 rs12801394
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; nucleus [GO:0005634]; cytochrome-b5 reductase activity, acting on NAD(P)H [GO:0004128]; FAD binding [GO:0071949]; bicarbonate transport [GO:0015701]; oxidation-reduction process [GO:0055114]; sterol biosynthetic process [GO:0016126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6BCY4-1; Sequence=Displayed; Name=2; IsoId=Q6BCY4-2; Sequence=VSP_025559; Note=No experimental confirmation available.; 


uniprotID: Q14596
geneSymbol: NBR1
pdb: 1WJ6;2BKF;2CP8;2G4S;2L8J;2MGW;2MJ5;4OLE;
length: 966
go: ENSG00000188554;
snps: rs8482
name:
Next to BRCA1 gene 1 protein (Cell migration-inducing gene 19 protein) (Membrane component chromosome 17 surface marker 2) (Neighbor of BRCA1 gene 1 protein) (Protein 1A1-3B)

sequence:

opentargets:
autophagosome [GO:0005776]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; lysosome [GO:0005764]; M band [GO:0031430]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; phagophore assembly site [GO:0000407]; mitogen-activated protein kinase binding [GO:0051019]; ubiquitin binding [GO:0043130]; zinc ion binding [GO:0008270]; macroautophagy [GO:0016236]; negative regulation of osteoblast differentiation [GO:0045668]; protein complex oligomerization [GO:0051259]; regulation of bone mineralization [GO:0030500]; regulation of stress-activated MAPK cascade [GO:0032872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14596-1; Sequence=Displayed; Name=2; IsoId=Q14596-2; Sequence=VSP_004314; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19427866}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:19250911}. Lysosome {ECO:0000269|PubMed:19250911}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000250|UniProtKB:Q501R9}. Note=In cardiac muscles localizes to the sarcomeric M line (By similarity). Is targeted to lysosomes for degradation (PubMed:19250911). {ECO:0000250|UniProtKB:Q501R9, ECO:0000269|PubMed:19250911}.


uniprotID: O43676
geneSymbol: NDUFB3
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
sequence: MAHEHGHEHGHHKMELPDYRQWKIEGTPLETIQKKLAAKGLRDPWGRNEAWRYMGGFAKSVSFSDVFFKGFKWGFAAFVVAVGAEYYLESLNKDKKHH
length: 98
go: ENSG00000119013;
drug: DB00157;
snps: rs142609245
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 (Complex I-B12) (CI-B12) (NADH-ubiquinone oxidoreductase B12 subunit)

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

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


uniprotID: P40205
geneSymbol: MYCNOS
name: N-cym protein (N-myc opposite strand)
length: 109
sequence:
MQHPPCEPGNCLSLKEKKITEGSGGVCWGGETDASNPAPALTACCAAEREANVEQGLAGRLLLCNYERRVVRRCKIAGRGRAPLGTRPLDVSSFKLKEEGRPPCLKINK

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of kinase activity [GO:0033673]; positive regulation of cell proliferation [GO:0008284]; regulation of protein stability [GO:0031647]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24391509}. Nucleus {ECO:0000269|PubMed:24391509}.


uniprotID: Q8NET5
geneSymbol: NFAM1
reactome: R-HSA-6798695;
length: 270
go: ENSG00000235568;
snps: rs34296033 rs17003048
name:
NFAT activation molecule 1 (Calcineurin/NFAT-activating ITAM-containing protein) (NFAT-activating protein with ITAM motif 1)

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; transmembrane signaling receptor activity [GO:0004888]; B cell differentiation [GO:0030183]; cell surface receptor signaling pathway [GO:0007166]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; neutrophil degranulation [GO:0043312]; positive regulation of B cell receptor signaling pathway [GO:0050861]; positive regulation of cytokine production [GO:0001819]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; regulation of B cell differentiation [GO:0045577]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Partially recruited to lipid rafts upon BCR stimulation. {ECO:0000250}.


uniprotID: P51970
geneSymbol: NDUFA8
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 172
go: ENSG00000119421;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 (Complex I-19kD) (CI-19kD) (Complex I-PGIV) (CI-PGIV) (NADH-ubiquinone oxidoreductase 19 kDa subunit)

sequence:
MPGIVELPTLEELKVDEVKISSAVLKAAAHHYGAQCDKPNKEFMLCRWEEKDPRRCLEEGKLVNKCALDFFRQIKRHCAEPFTEYWTCIDYTGQQLFRHCRKQQAKFDECVLDKLGWVRPDLGELSKVTKVKTDRPLPENPYHSRPRPDPSPEIEGDLQPATHGSRFYFWTK

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; protein-containing complex binding [GO:0044877]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:21310150}; Peripheral membrane protein {ECO:0000269|PubMed:21310150}. Mitochondrion intermembrane space {ECO:0000269|PubMed:21310150}. Mitochondrion {ECO:0000269|PubMed:23676665}.


uniprotID: Q96SB3
geneSymbol: PPP1R9B
name: Neurabin-2 (Neurabin-II) (Protein phosphatase 1 regulatory subunit 9B) (Spinophilin)
length: 815
snps: rs8079707
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; adherens junction [GO:0005912]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; filopodium [GO:0030175]; lamellipodium [GO:0030027]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; protein phosphatase type 1 complex [GO:0000164]; ruffle membrane [GO:0032587]; actin filament binding [GO:0051015]; protein phosphatase 1 binding [GO:0008157]; protein phosphatase inhibitor activity [GO:0004864]; actin filament organization [GO:0007015]; calcium-mediated signaling [GO:0019722]; cell cycle arrest [GO:0007050]; cell migration [GO:0016477]; cellular response to morphine [GO:0071315]; filopodium assembly [GO:0046847]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of cell growth [GO:0030308]; neuron projection development [GO:0031175]; regulation of cell growth by extracellular stimulus [GO:0001560]; regulation of cell proliferation [GO:0042127]; regulation of exit from mitosis [GO:0007096]; regulation of opioid receptor signaling pathway [GO:2000474]; RNA splicing [GO:0008380]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Nucleus {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Cell junction, synapse. Cell junction, adherens junction {ECO:0000250}. Cytoplasm. Cell membrane. Cell projection, lamellipodium. Cell projection, filopodium. Cell projection, ruffle membrane. Note=Enriched at synapse and cadherin-based cell-cell adhesion sites. In neurons, both cytosolic and membrane-associated, and highly enriched in the postsynaptic density apposed to exitatory synapses. Colocalizes with PPP1R2 at actin-rich adherens junctions in epithelial cells and in dendritic spines (By similarity). Accumulates in the lamellipodium, filopodium and ruffle membrane in response to hepatocyte growth factor (HGF) treatment. {ECO:0000250}.


uniprotID: Q9UMS0
geneSymbol: NFU1
pdb: 2LTM;2M5O;
name: NFU1 iron-sulfur cluster scaffold homolog, mitochondrial (HIRA-interacting protein 5)
length: 254
go: ENSG00000169599;
snps: rs776875884 rs4453725 rs374514431
location: SUBCELLULAR LOCATION: Mitochondrion. Cytoplasm, cytosol.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 4 iron, 4 sulfur cluster binding [GO:0051539]; iron ion binding [GO:0005506]; iron-sulfur cluster assembly [GO:0016226]; protein maturation by iron-sulfur cluster transfer [GO:0097428]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UMS0-1; Sequence=Displayed; Name=2; IsoId=Q9UMS0-2; Sequence=VSP_041224; Note=No experimental confirmation available.; Name=3; IsoId=Q9UMS0-3; Sequence=VSP_041225; 


uniprotID: O14777
geneSymbol: NDC80
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 2IGP;2VE7;3IZ0;
length: 642
go: ENSG00000080986;
snps: rs16943490 rs12456560 rs9051
name:
Kinetochore protein NDC80 homolog (Highly expressed in cancer protein) (Kinetochore protein Hec1) (HsHec1) (Kinetochore-associated protein 2) (Retinoblastoma-associated protein HEC)

sequence:

opentargets:
centrosome [GO:0005813]; chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; condensed nuclear chromosome kinetochore [GO:0000778]; condensed nuclear chromosome outer kinetochore [GO:0000942]; cytosol [GO:0005829]; kinetochore [GO:0000776]; membrane [GO:0016020]; Ndc80 complex [GO:0031262]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; attachment of spindle microtubules to kinetochore [GO:0008608]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; establishment of mitotic spindle orientation [GO:0000132]; kinetochore organization [GO:0051383]; metaphase plate congression [GO:0051310]; mitotic cell cycle [GO:0000278]; mitotic sister chromatid segregation [GO:0000070]; mitotic spindle organization [GO:0007052]; positive regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090267]; positive regulation of protein localization to kinetochore [GO:1905342]

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Localizes to kinetochores from late prophase to anaphase. Localizes specifically to the outer plate of the kinetochore.


uniprotID: P51955
geneSymbol: NEK2
length: 445
go: ENSG00000117650;
snps: rs2230489 rs56102977
reactome:
R-HSA-179409;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;

pdb:
2JAV;2W5A;2W5B;2W5H;2WQO;2XK3;2XK4;2XK6;2XK7;2XK8;2XKC;2XKD;2XKE;2XKF;2XNM;2XNN;2XNO;2XNP;4A4X;4AFE;5M51;5M53;5M55;5M57;6H0O;

name:
Serine/threonine-protein kinase Nek2 (EC 2.7.11.1) (HSPK 21) (Never in mitosis A-related kinase 2) (NimA-related protein kinase 2) (NimA-like protein kinase 1)

sequence:

opentargets:
centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; condensed nuclear chromosome [GO:0000794]; cytosol [GO:0005829]; kinetochore [GO:0000776]; microtubule [GO:0005874]; midbody [GO:0030496]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein phosphatase binding [GO:0019903]; protein serine/threonine kinase activity [GO:0004674]; blastocyst development [GO:0001824]; cell division [GO:0051301]; centrosome separation [GO:0051299]; chromosome segregation [GO:0007059]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; meiotic cell cycle [GO:0051321]; mitotic cell cycle [GO:0000278]; mitotic sister chromatid segregation [GO:0000070]; mitotic spindle assembly [GO:0090307]; negative regulation of centriole-centriole cohesion [GO:1903126]; negative regulation of DNA binding [GO:0043392]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of attachment of spindle microtubules to kinetochore [GO:0051988]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of mitotic centrosome separation [GO:0046602]; regulation of mitotic nuclear division [GO:0007088]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Nek2A; IsoId=P51955-1; Sequence=Displayed; Name=2; Synonyms=Nek2B; IsoId=P51955-2; Sequence=VSP_015578, VSP_015579; Name=3; IsoId=P51955-3; Sequence=VSP_015576, VSP_015577; Name=4; Synonyms=Nek2C, Nek2A-T; IsoId=P51955-4; Sequence=VSP_041758; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Nucleus, nucleolus {ECO:0000269|PubMed:15161910}. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:26220856}. Cytoplasm, cytoskeleton, spindle pole. Chromosome, centromere, kinetochore. Chromosome, centromere {ECO:0000250}. Note=STK3/MST2 and SAV1 are required for its targeting to the centrosome. Colocalizes with SGO1 and MAD1L1 at the kinetochore. Not associated with kinetochore in the interphase but becomes associated with it upon the breakdown of the nuclear envelope. Has a nucleolar targeting/ retention activity via a coiled-coil domain at the C-terminal end.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Predominantly cytoplasmic.; SUBCELLULAR LOCATION: Isoform 4: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Predominantly nuclear.


uniprotID: O95167
geneSymbol: NDUFA3
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
sequence: MAARVGAFLKNAWDKEPVLVVSFVVGGLAVILPPLSPYFKYSVMINKATPYNYPVPVRDDGNMPDVPSHPQDPQGPSLEWLKKL
length: 84
go: ENSG00000170906;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 (Complex I-B9) (CI-B9) (NADH-ubiquinone oxidoreductase B9 subunit)

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

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


uniprotID: Q86Y39
geneSymbol: NDUFA11
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 141
go: ENSG00000174886;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 (Complex I-B14.7) (CI-B14.7) (NADH-ubiquinone oxidoreductase subunit B14.7)

sequence:
MAPKVFRQYWDIPDGTDCHRKAYSTTSIASVAGLTAAAYRVTLNPPGTFLEGVAKVGQYTFTAAAVGAVFGLTTCISAHVREKPDDPLNYFLGGCAGGLTLGARTHNYGIGAAACVYFGIAASLVKMGRLEGWEVFAKPKV

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; mitochondrial respiratory chain complex I assembly [GO:0032981]; oxidation-reduction process [GO:0055114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86Y39-1; Sequence=Displayed; Name=2; IsoId=Q86Y39-2; Sequence=VSP_033813; 

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


uniprotID: O14513
geneSymbol: NCKAP5
name: Nck-associated protein 5 (NAP-5) (Peripheral clock protein)
length: 1909
go: ENSG00000176771;
snps: rs58963837 rs17325719 rs12611515 rs12691830 rs16841277 rs13016342 rs2278752
sequence:

opentargets:
microtubule plus-end [GO:0035371]; microtubule bundle formation [GO:0001578]; microtubule depolymerization [GO:0007019]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Peripheral clock protein 2, ERIH2; IsoId=O14513-1; Sequence=Displayed; Name=2; Synonyms=Peripheral clock protein 1, ERIH1; IsoId=O14513-2; Sequence=VSP_021606; Name=3; IsoId=O14513-3; Sequence=VSP_021601, VSP_021604, VSP_021605; Name=4; IsoId=O14513-4; Sequence=VSP_021602, VSP_021603; 


uniprotID: Q14934
geneSymbol: NFATC4
pdb: 2YRP;
length: 902
go: ENSG00000100968;
snps: rs2229309 rs2228231 rs7149586
name:
Nuclear factor of activated T-cells, cytoplasmic 4 (NF-ATc4) (NFATc4) (T-cell transcription factor NFAT3) (NF-AT3)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nuclear transcription factor complex [GO:0044798]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; peroxisome proliferator activated receptor binding [GO:0042975]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; branching involved in blood vessel morphogenesis [GO:0001569]; calcineurin-NFAT signaling cascade [GO:0033173]; cellular respiration [GO:0045333]; cellular response to ionomycin [GO:1904637]; cellular response to lithium ion [GO:0071285]; cellular response to UV [GO:0034644]; cytokine production [GO:0001816]; heart development [GO:0007507]; inflammatory response [GO:0006954]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; muscle cell development [GO:0055001]; negative regulation of chromatin binding [GO:0035562]; negative regulation of dendrite morphogenesis [GO:0050774]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of protein binding [GO:0032091]; negative regulation of synapse maturation [GO:2000297]; negative regulation of Wnt signaling pathway [GO:0030178]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of synaptic plasticity [GO:0048167]; smooth muscle cell differentiation [GO:0051145]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=24;  Name=1; Synonyms=ID-IXL; IsoId=Q14934-1; Sequence=Displayed; Name=2; Synonyms=IA-IXL; IsoId=Q14934-2; Sequence=VSP_036701; Name=3; Synonyms=IA-IXi; IsoId=Q14934-3; Sequence=VSP_036701, VSP_036705; Note=Due to an intron retention.; Name=4; Synonyms=IC-IXL; IsoId=Q14934-4; Sequence=VSP_036702; Name=5; Synonyms=IC-IXi; IsoId=Q14934-5; Sequence=VSP_036702, VSP_036705; Note=Due to an intron retention.; Name=6; Synonyms=IB-IXL; IsoId=Q14934-6; Sequence=VSP_036703; Name=7; Synonyms=IB-IXi; IsoId=Q14934-7; Sequence=VSP_036703, VSP_036705; Note=Due to an intron retention.; Name=8; Synonyms=ID-IXi; IsoId=Q14934-8; Sequence=VSP_036705; Note=Due to an intron retention.; Name=9; Synonyms=IE-IXL; IsoId=Q14934-9; Sequence=VSP_036700; Name=10; Synonyms=IE-IXi; IsoId=Q14934-10; Sequence=VSP_036700, VSP_036705; Note=Due to an intron retention.; Name=11; Synonyms=IA-IXS; IsoId=Q14934-11; Sequence=VSP_036701, VSP_036704; Name=12; Synonyms=IEi-IXL; IsoId=Q14934-12; Sequence=VSP_036699; Note=Due to an intron retention.; Name=13; Synonyms=IEi-IXi; IsoId=Q14934-13; Sequence=VSP_036699, VSP_036705; Note=Due to an intron retention.; Name=14; Synonyms=IC-IXS; IsoId=Q14934-14; Sequence=VSP_036702, VSP_036704; Name=15; Synonyms=IB-IXS; IsoId=Q14934-15; Sequence=VSP_036703, VSP_036704; Name=16; Synonyms=ID-IXS; IsoId=Q14934-16; Sequence=VSP_036704; Name=17; Synonyms=IE-IXS; IsoId=Q14934-17; Sequence=VSP_036700, VSP_036704; Name=18; Synonyms=IEi-IXS; IsoId=Q14934-18; Sequence=VSP_036699, VSP_036704; Note=Due to an intron retention.; Name=19; Synonyms=IV-IXL; IsoId=Q14934-19; Sequence=VSP_036698; Name=20; Synonyms=IV-IXi; IsoId=Q14934-20; Sequence=VSP_036698, VSP_036705; Note=Due to an intron retention.; Name=21; Synonyms=IV-IXS; IsoId=Q14934-21; Sequence=VSP_036698, VSP_036704; Name=22; Synonyms=VI-IXL; IsoId=Q14934-22; Sequence=VSP_036697; Name=23; Synonyms=VI-IXi; IsoId=Q14934-23; Sequence=VSP_036697, VSP_036705; Note=Due to an intron retention.; Name=24; Synonyms=VI-IXS; IsoId=Q14934-24; Sequence=VSP_036697, VSP_036704; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18347059}. Nucleus {ECO:0000269|PubMed:18347059}. Note=Cytoplasmic for the phosphorylated form and nuclear after activation that is controlled by calcineurin-mediated dephosphorylation. Rapid nuclear exit of NFATC is thought to be one mechanism by which cells distinguish between sustained and transient calcium signals. The subcellular localization of NFATC plays a key role in the regulation of gene transcription.


uniprotID: Q15223
geneSymbol: NECTIN1
reactome: R-HSA-418990;R-HSA-420597;
pdb: 3ALP;3SKU;3U82;3U83;4FMF;4MYW;
length: 517
go: ENSG00000110400;
name:
Nectin-1 (Herpes virus entry mediator C) (Herpesvirus entry mediator C) (HveC) (Herpesvirus Ig-like receptor) (HIgR) (Nectin cell adhesion molecule 1) (Poliovirus receptor-related protein 1) (CD antigen CD111)

sequence:

opentargets:
adherens junction [GO:0005912]; apical junction complex [GO:0043296]; cell-cell adherens junction [GO:0005913]; cell-cell contact zone [GO:0044291]; dendrite [GO:0030425]; extracellular region [GO:0005576]; growth cone membrane [GO:0032584]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of membrane [GO:0016021]; integral component of presynaptic active zone membrane [GO:0099059]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; cell adhesion molecule binding [GO:0050839]; coreceptor activity [GO:0015026]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; signaling receptor activity [GO:0038023]; virion binding [GO:0046790]; virus receptor activity [GO:0001618]; adherens junction organization [GO:0034332]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; desmosome organization [GO:0002934]; enamel mineralization [GO:0070166]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; immune response [GO:0006955]; iron ion transport [GO:0006826]; lens morphogenesis in camera-type eye [GO:0002089]; protein localization to cell junction [GO:1902414]; regulation of synapse assembly [GO:0051963]; retina development in camera-type eye [GO:0060041]; viral entry into host cell [GO:0046718]; virion attachment to host cell [GO:0019062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Delta; IsoId=Q15223-1; Sequence=Displayed; Name=Alpha; IsoId=Q15223-2; Sequence=VSP_002626, VSP_002627; Name=Gamma; IsoId=Q15223-3; Sequence=VSP_002624, VSP_002625; 

location:
SUBCELLULAR LOCATION: Isoform Alpha: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform Delta: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform Gamma: Secreted.


uniprotID: Q9Y697
geneSymbol: NFS1
reactome: R-HSA-1362409;R-HSA-947581;
pdb: 5KZ5;5USR;5WGB;5WKP;5WLW;
name: Cysteine desulfurase, mitochondrial (EC 2.8.1.7)
length: 457
go: ENSG00000244005;
drug: DB00160;DB00151;DB00114;
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cysteine desulfurase activity [GO:0031071]; iron-sulfur cluster binding [GO:0051536]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; [2Fe-2S] cluster assembly [GO:0044571]; iron incorporation into metallo-sulfur cluster [GO:0018283]; Mo-molybdopterin cofactor biosynthetic process [GO:0006777]; molybdopterin cofactor biosynthetic process [GO:0032324]; protein-containing complex assembly [GO:0065003]; small molecule metabolic process [GO:0044281]; sulfur amino acid metabolic process [GO:0000096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Comment=Individual cells may vary AUG utilization in accordance with changes in metabolic status, the cytosolic pH being a strong determinant of this modulation.; Name=Mitochondrial; IsoId=Q9Y697-1; Sequence=Displayed; Name=Cytoplasmic; IsoId=Q9Y697-2; Sequence=VSP_018646; Name=3; IsoId=Q9Y697-3; Sequence=VSP_045860; 

location:
SUBCELLULAR LOCATION: Isoform Mitochondrial: Mitochondrion {ECO:0000269|PubMed:19454487, ECO:0000269|PubMed:26702583, ECO:0000269|PubMed:9885568}.; SUBCELLULAR LOCATION: Isoform Cytoplasmic: Cytoplasm {ECO:0000269|PubMed:9885568}. Nucleus {ECO:0000269|PubMed:19454487, ECO:0000269|PubMed:9885568}.


uniprotID: Q9Y6M9
geneSymbol: NDUFB9
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 179
go: ENSG00000147684;
drug: DB00157;
snps: rs10195
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 (Complex I-B22) (CI-B22) (LYR motif-containing protein 3) (NADH-ubiquinone oxidoreductase B22 subunit)

sequence:
MAFLASGPYLTHQQKVLRLYKRALRHLESWCVQRDKYRYFACLMRARFEEHKNEKDMAKATQLLKEAEEEFWYRQHPQPYIFPDSPGGTSYERYDCYKVPEWCLDDWHPSEKAMYPDYFAKREQWKKLRRESWEREVKQLQEETPPGGPLTEALPPARKEGDLPPLWWYIVTRPRERPM

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; sensory perception of sound [GO:0007605]


uniprotID: Q9UGV2
geneSymbol: NDRG3
name: Protein NDRG3 (N-myc downstream-regulated gene 3 protein)
length: 375
go: ENSG00000101079;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; cell differentiation [GO:0030154]; negative regulation of cell growth [GO:0030308]; signal transduction [GO:0007165]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UGV2-1; Sequence=Displayed; Name=2; IsoId=Q9UGV2-2; Sequence=VSP_003419; Name=3; IsoId=Q9UGV2-3; Sequence=VSP_003420; 


uniprotID: Q16718
geneSymbol: NDUFA5
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 116
go: ENSG00000128609;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 (Complex I subunit B13) (Complex I-13kD-B) (CI-13kD-B) (NADH-ubiquinone oxidoreductase 13 kDa-B subunit)

sequence:
MAGVLKKTTGLVGLAVCNTPHERLRILYTKILDVLEEIPKNAAYRKYTEQITNEKLAMVKAEPDVKKLEDQLQGGQLEEVILQAEHELNLARKMREWKLWEPLVEEPPADQWKWPI

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16718-1; Sequence=Displayed; Name=2; IsoId=Q16718-2; Sequence=VSP_055164; Note=No experimental confirmation available.; 


uniprotID: Q8N183
geneSymbol: NDUFAF2
reactome: R-HSA-6799198;
length: 169
go: ENSG00000164182;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15774466}.
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 (B17.2-like) (B17.2L) (Mimitin) (Myc-induced mitochondrial protein) (MMTN) (NDUFA12-like protein)

sequence:
MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQTIREKRIVEAANKKEVDYEAGDIPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQPGSWMPRDGKSHNQ

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; electron transfer activity [GO:0009055]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; cellular respiration [GO:0045333]; mitochondrial respiratory chain complex I assembly [GO:0032981]; negative regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061179]; reactive oxygen species metabolic process [GO:0072593]; respiratory electron transport chain [GO:0022904]


uniprotID: Q9P0J0
geneSymbol: NDUFA13
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTC;5XTD;5XTH;5XTI;
length: 144
go: ENSG00000186010;
drug: DB00157;
snps: rs137852869 rs752513525
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 (Cell death regulatory protein GRIM-19) (Complex I-B16.6) (CI-B16.6) (Gene associated with retinoic and interferon-induced mortality 19 protein) (GRIM-19) (Gene associated with retinoic and IFN-induced mortality 19 protein) (NADH-ubiquinone oxidoreductase B16.6 subunit)

sequence:
MAASKVKQDMPPPGGYGPIDYKRNLPRRGLSGYSMLAIGIGTLIYGHWSIMKWNRERRRLQIEDFEARIALLPLLQAETDRRTLQMLRENLEEEAIIMKDVPDWKVGESVFHTTRWVPPLIGELYGLRTTEEALHASHGFMWYT

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain [GO:0005746]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; NADH dehydrogenase activity [GO:0003954]; apoptotic signaling pathway [GO:0097190]; cellular response to interferon-beta [GO:0035458]; cellular response to retinoic acid [GO:0071300]; extrinsic apoptotic signaling pathway [GO:0097191]; mitochondrial respiratory chain complex I assembly [GO:0032981]; negative regulation of cell growth [GO:0030308]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of peptidase activity [GO:0010952]; positive regulation of protein catabolic process [GO:0045732]; protein import into mitochondrial inner membrane [GO:0045039]; reactive oxygen species metabolic process [GO:0072593]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P0J0-1; Sequence=Displayed; Name=2; IsoId=Q9P0J0-2; Sequence=VSP_056644; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:12628925, ECO:0000269|PubMed:15059901, ECO:0000269|PubMed:15367666}; Single-pass membrane protein {ECO:0000255}; Matrix side. Nucleus {ECO:0000269|PubMed:12628925}. Note=Localizes mainly in the mitochondrion (PubMed:12628925). May be translocated into the nucleus upon IFN/RA treatment. {ECO:0000269|PubMed:12628925, ECO:0000269|PubMed:15059901}.


uniprotID: Q8NFW8
geneSymbol: CMAS
reactome: R-HSA-4085001;
length: 434
go: ENSG00000111726;
drug: DB02485;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11602804}.
name:
N-acylneuraminate cytidylyltransferase (EC 2.7.7.43) (CMP-N-acetylneuraminic acid synthase) (CMP-NeuNAc synthase)

sequence:

opentargets:
membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; N-acylneuraminate cytidylyltransferase activity [GO:0008781]; N-acetylneuraminate metabolic process [GO:0006054]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NFW8-1; Sequence=Displayed; Name=2; IsoId=Q8NFW8-2; Sequence=VSP_012764; Note=No experimental confirmation available.; 


uniprotID: P30990
geneSymbol: NTS
reactome: R-HSA-375276;R-HSA-416476;
pdb: 2LNE;2LNF;2LNG;2LYW;2OYV;2OYW;3F6K;4PO7;5LUZ;
length: 170
go: ENSG00000133636;
name:
Neurotensin/neuromedin N [Cleaved into: Large neuromedin N (NmN-125); Neuromedin N (NN) (NmN); Neurotensin (NT); Tail peptide]

sequence:
MMAGMKIQLVCMLLLAFSSWSLCSDSEEEMKALEADFLTNMHTSKISKAHVPSWKMTLLNVCSLVNNLNSPAEETGEVHEEELVARRKLPTALDGFSLEAMLTIYQLHKICHSRAFQHWELIQEDILDTGNDKNGKEEVIKRKIPYILKRQLYENKPRRPYILKRDSYYY

opentargets:
axon terminus [GO:0043679]; extracellular region [GO:0005576]; transport vesicle [GO:0030133]; neuropeptide hormone activity [GO:0005184]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; G protein-coupled receptor signaling pathway [GO:0007186]; killing of cells of other organism [GO:0031640]; regulation of blood vessel size [GO:0050880]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Secreted. Cytoplasmic vesicle, secretory vesicle. Note=Packaged within secretory vesicles.


uniprotID: Q96P71
geneSymbol: NECAB3
length: 396
go: ENSG00000125967;
snps: rs17124890
name:
N-terminal EF-hand calcium-binding protein 3 (Amyloid-beta A4 protein-binding family A member 2-binding protein) (Nek2-interacting protein 1) (Neuronal calcium-binding protein 3) (X11L-binding protein 51)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi cis cisterna [GO:0000137]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; protein metabolic process [GO:0019538]; protein secretion [GO:0009306]; regulation of amyloid precursor protein biosynthetic process [GO:0042984]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.; Name=2; Synonyms=XB51-alpha; IsoId=Q96P71-1; Sequence=Displayed; Name=1; Synonyms=XB51-beta; IsoId=Q96P71-2; Sequence=VSP_000739; Name=3; IsoId=Q96P71-3; Sequence=VSP_000737, VSP_000738; Note=May result from the retention of an intron in the cDNA.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:10833507, ECO:0000269|PubMed:14697346, ECO:0000269|PubMed:26948053}.


uniprotID: Q12986
geneSymbol: NFX1
length: 1120
go: ENSG00000086102;
snps: rs5017299 rs2860036 rs2274866
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcriptional repressor NF-X1 (EC 2.3.2.-) (Nuclear transcription factor, X box-binding protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA binding [GO:0003723]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transferase activity [GO:0016740]; zinc ion binding [GO:0008270]; inflammatory response [GO:0006954]; negative regulation of MHC class II biosynthetic process [GO:0045347]; negative regulation of transcription by RNA polymerase II [GO:0000122]; transcription by RNA polymerase II [GO:0006366]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=NFX-123; IsoId=Q12986-1; Sequence=Displayed; Name=2; IsoId=Q12986-2; Sequence=VSP_033684, VSP_033685; Name=3; Synonyms=NFX-91; IsoId=Q12986-3; Sequence=VSP_033682, VSP_033683; 


uniprotID: P52298
geneSymbol: NCBP2
pdb: 1H2T;1H2U;1H2V;1H6K;1N52;1N54;3FEX;3FEY;5OO6;5OOB;6D0Y;
length: 156
go: ENSG00000114503;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8601613}. Cytoplasm {ECO:0000269|PubMed:8601613}.
reactome:
R-HSA-109688;R-HSA-111367;R-HSA-112382;R-HSA-113418;R-HSA-159227;R-HSA-159230;R-HSA-159231;R-HSA-159236;R-HSA-167152;R-HSA-167158;R-HSA-167200;R-HSA-167242;R-HSA-191859;R-HSA-674695;R-HSA-6803529;R-HSA-6807505;R-HSA-72086;R-HSA-72163;R-HSA-72165;R-HSA-72187;R-HSA-72203;R-HSA-77588;R-HSA-77595;R-HSA-8851708;R-HSA-9010553;R-HSA-975956;R-HSA-975957;

name:
Nuclear cap-binding protein subunit 2 (20 kDa nuclear cap-binding protein) (Cell proliferation-inducing gene 55 protein) (NCBP 20 kDa subunit) (CBP20) (NCBP-interacting protein 1) (NIP1)

sequence:
MSGGLLKALRSDSYVELSQYRDQHFRGDNEEQEKLLKKSCTLYVGNLSFYTTEEQIYELFSKSGDIKKIIMGLDKMKKTACGFCFVEYYSRADAENAMRYINGTRLDDRIIRTDWDAGFKEGRQYGRGRSGGQVRDEYRQDYDAGRGGYGKLAQNQ

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mRNA cap binding complex [GO:0005845]; nuclear cap binding complex [GO:0005846]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA cap binding complex [GO:0034518]; mRNA binding [GO:0003729]; RNA 7-methylguanosine cap binding [GO:0000340]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; snRNA binding [GO:0017069]; 7-methylguanosine mRNA capping [GO:0006370]; fibroblast growth factor receptor signaling pathway [GO:0008543]; gene silencing by RNA [GO:0031047]; histone mRNA metabolic process [GO:0008334]; mRNA 3'-end processing [GO:0031124]; mRNA cis splicing, via spliceosome [GO:0045292]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; nuclear export [GO:0051168]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of mRNA 3'-end processing [GO:0031442]; positive regulation of RNA export from nucleus [GO:0046833]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; regulation of translational initiation [GO:0006446]; RNA export from nucleus [GO:0006405]; RNA metabolic process [GO:0016070]; RNA splicing [GO:0008380]; snRNA export from nucleus [GO:0006408]; snRNA transcription by RNA polymerase II [GO:0042795]; termination of RNA polymerase II transcription [GO:0006369]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P52298-1; Sequence=Displayed; Name=2; IsoId=P52298-2; Sequence=VSP_038125; Name=3; IsoId=P52298-3; Sequence=VSP_053823; Note=Gene prediction based on EST data.; 


uniprotID: P16519
geneSymbol: PCSK2
reactome: R-HSA-264876;
length: 638
go: ENSG00000125851;
drug: DB00030;DB00071;
snps: rs201718679 rs17854040 rs144151196 rs780820865 rs200711626 rs17857236 rs139619496
name:
Neuroendocrine convertase 2 (NEC 2) (EC 3.4.21.94) (KEX2-like endoprotease 2) (Prohormone convertase 2) (Proprotein convertase 2) (PC2)

sequence:

opentargets:
dendrite [GO:0030425]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleus [GO:0005634]; perikaryon [GO:0043204]; secretory granule [GO:0030141]; transport vesicle [GO:0030133]; protein-containing complex binding [GO:0044877]; serine-type endopeptidase activity [GO:0004252]; enkephalin processing [GO:0034230]; insulin processing [GO:0030070]; islet amyloid polypeptide processing [GO:0034231]; nervous system development [GO:0007399]; peptide hormone processing [GO:0016486]; protein autoprocessing [GO:0016540]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P16519-1; Sequence=Displayed; Name=2; IsoId=P16519-2; Sequence=VSP_043358; Note=No experimental confirmation available.; Name=3; IsoId=P16519-3; Sequence=VSP_045873; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle. Secreted {ECO:0000269|PubMed:28719828}. Note=Localized in the secretion granules.


uniprotID: P49821
geneSymbol: NDUFV1
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 464
go: ENSG00000167792;
drug: DB00157;
snps: rs1800670 rs121913661 rs1043770 rs121913660 rs121913659
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
name:
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I-51kD) (CI-51kD) (NADH dehydrogenase flavoprotein 1) (NADH-ubiquinone oxidoreductase 51 kDa subunit)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; 4 iron, 4 sulfur cluster binding [GO:0051539]; FMN binding [GO:0010181]; metal ion binding [GO:0046872]; NAD binding [GO:0051287]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial ATP synthesis coupled electron transport [GO:0042775]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49821-1; Sequence=Displayed; Name=2; IsoId=P49821-2; Sequence=VSP_003730; Note=No experimental confirmation available.; 


uniprotID: Q14919
geneSymbol: DRAP1
reactome: R-HSA-1181150;R-HSA-1502540;
pdb: 1JFI;
name: Dr1-associated corepressor (Dr1-associated protein 1) (Negative cofactor 2-alpha) (NC2-alpha)
length: 205
go: ENSG00000175550;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; core promoter binding [GO:0001047]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; RNA polymerase II preinitiation complex assembly [GO:0051123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14919-1; Sequence=Displayed; Name=2; IsoId=Q14919-2; Sequence=VSP_012215; 


uniprotID: O43674
geneSymbol: NDUFB5
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 189
go: ENSG00000136521;
drug: DB00157;
snps: rs4147793
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial (Complex I-SGDH) (CI-SGDH) (NADH-ubiquinone oxidoreductase SGDH subunit)

sequence:
MAAMSLLRRVSVTAVAALSGRPLGTRLGFGGFLTRGFPKAAAPVRHSGDHGKRLFVIRPSRFYDRRFLKLLRFYIALTGIPVAIFITLVNVFIGQAELAEIPEGYVPEHWEYYKHPISRWIARNFYDSPEKIYERTMAVLQIEAEKAELRVKELEVRKLMHVRGDGPWYYYETIDKELIDHSPKATPDN

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43674-1; Sequence=Displayed; Name=2; IsoId=O43674-2; Sequence=VSP_042516; Note=No experimental confirmation available.; 

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


uniprotID: Q14686
geneSymbol: NCOA6
length: 2063
go: ENSG00000198646;
snps: rs6060031 rs17092079 rs6060022
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-1989781;R-HSA-2151201;R-HSA-2426168;R-HSA-381340;R-HSA-400206;R-HSA-400253;R-HSA-5617472;

name:
Nuclear receptor coactivator 6 (Activating signal cointegrator 2) (ASC-2) (Amplified in breast cancer protein 3) (Cancer-amplified transcriptional coactivator ASC-2) (Nuclear receptor coactivator RAP250) (NRC RAP250) (Nuclear receptor-activating protein, 250 kDa) (Peroxisome proliferator-activated receptor-interacting protein) (PPAR-interacting protein) (PRIP) (Thyroid hormone receptor-binding protein)

sequence:

opentargets:
cytosol [GO:0005829]; histone methyltransferase complex [GO:0035097]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; enzyme binding [GO:0019899]; estrogen receptor binding [GO:0030331]; nuclear receptor transcription coactivator activity [GO:0030374]; retinoid X receptor binding [GO:0046965]; thyroid hormone receptor binding [GO:0046966]; transcription coactivator activity [GO:0003713]; brain development [GO:0007420]; cellular response to DNA damage stimulus [GO:0006974]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA-templated transcription, initiation [GO:0006352]; glucocorticoid receptor signaling pathway [GO:0042921]; heart development [GO:0007507]; intracellular estrogen receptor signaling pathway [GO:0030520]; myeloid cell differentiation [GO:0030099]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of lipid metabolic process [GO:0019216]; response to hormone [GO:0009725]


uniprotID: Q9HD90
geneSymbol: NEUROD4
length: 331
go: ENSG00000123307;
snps: rs76064726
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Neurogenic differentiation factor 4 (NeuroD4) (Class A basic helix-loop-helix protein 4) (bHLHa4) (Protein atonal homolog 3) (ATH-3) (Atoh3)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; amacrine cell differentiation [GO:0035881]; cell fate commitment [GO:0045165]; glial cell differentiation [GO:0010001]; neuroblast proliferation [GO:0007405]; neuron development [GO:0048666]; neuron migration [GO:0001764]; Notch signaling pathway [GO:0007219]; positive regulation of cell differentiation [GO:0045597]


uniprotID: O43181
geneSymbol: NDUFS4
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 175
go: ENSG00000164258;
drug: DB00157;
snps: rs747359752 rs1044692
name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial (Complex I-18 kDa) (CI-18 kDa) (Complex I-AQDQ) (CI-AQDQ) (NADH-ubiquinone oxidoreductase 18 kDa subunit)

sequence:
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEEHIKTRKVRIFVPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADPLSNMVLTFSTKEDAVSFAEKNGWSYDIEERKVPKPKSKSYGANFSWNKRTRVSTK

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; brain development [GO:0007420]; cAMP-mediated signaling [GO:0019933]; cellular respiration [GO:0045333]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; positive regulation of fibroblast proliferation [GO:0048146]; reactive oxygen species metabolic process [GO:0072593]; regulation of protein phosphorylation [GO:0001932]; response to cAMP [GO:0051591]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:12611891}; Peripheral membrane protein {ECO:0000269|PubMed:12611891}; Matrix side {ECO:0000269|PubMed:12611891}.


uniprotID: P19838
geneSymbol: NFKB1
pdb: 1MDI;1MDJ;1MDK;1NFI;1SVC;2DBF;2O61;3GUT;
length: 968
go: ENSG00000109320;
drug: DB00945;DB05487;DB05212;DB05767;DB05464;DB05451;DB01411;DB05471;DB01041;DB08814;
snps: rs4648065 rs4648072 rs4648085 rs4648086 rs4648099 rs4648118
reactome:
R-HSA-1169091;R-HSA-1810476;R-HSA-193692;R-HSA-202424;R-HSA-209560;R-HSA-2559582;R-HSA-2871837;R-HSA-3134963;R-HSA-3214841;R-HSA-381340;R-HSA-445989;R-HSA-448706;R-HSA-5603029;R-HSA-5607764;R-HSA-5621575;R-HSA-5660668;R-HSA-5684264;R-HSA-6798695;R-HSA-844456;R-HSA-9020702;R-HSA-933542;

name:
Nuclear factor NF-kappa-B p105 subunit (DNA-binding factor KBF1) (EBP-1) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1) [Cleaved into: Nuclear factor NF-kappa-B p50 subunit]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; I-kappaB/NF-kappaB complex [GO:0033256]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; specific granule lumen [GO:0035580]; actinin binding [GO:0042805]; 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]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; apoptotic process [GO:0006915]; cellular response to angiotensin [GO:1904385]; cellular response to dsRNA [GO:0071359]; cellular response to interleukin-1 [GO:0071347]; cellular response to interleukin-6 [GO:0071354]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to mechanical stimulus [GO:0071260]; cellular response to nicotine [GO:0071316]; cellular response to tumor necrosis factor [GO:0071356]; Fc-epsilon receptor signaling pathway [GO:0038095]; inflammatory response [GO:0006954]; interleukin-1-mediated signaling pathway [GO:0070498]; membrane protein intracellular domain proteolysis [GO:0031293]; negative regulation of apoptotic process [GO:0043066]; negative regulation of calcidiol 1-monooxygenase activity [GO:0010956]; negative regulation of cellular protein metabolic process [GO:0032269]; negative regulation of cholesterol transport [GO:0032375]; negative regulation of gene expression [GO:0010629]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-12 biosynthetic process [GO:0045083]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of vitamin D biosynthetic process [GO:0010957]; neutrophil degranulation [GO:0043312]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of hyaluronan biosynthetic process [GO:1900127]; positive regulation of lipid storage [GO:0010884]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of miRNA metabolic process [GO:2000630]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of type I interferon production [GO:0032481]; response to muscle stretch [GO:0035994]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; stress-activated MAPK cascade [GO:0051403]; T cell receptor signaling pathway [GO:0050852]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P19838-1; Sequence=Displayed; Name=2; IsoId=P19838-2; Sequence=VSP_021025; Name=3; IsoId=P19838-3; Sequence=VSP_042869, VSP_042870; Note=No experimental confirmation available.; 

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


uniprotID: A6NHJ4
geneSymbol: ZNF860
reactome: R-HSA-212436;
name: Zinc finger protein 860
length: 632
go: ENSG00000197385;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]


uniprotID: Q8IWU4
geneSymbol: SLC30A8
reactome: R-HSA-264876;R-HSA-435368;
name: Zinc transporter 8 (ZnT-8) (Solute carrier family 30 member 8)
length: 369
go: ENSG00000164756;
snps: rs16889462 rs13266634
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; secretory granule [GO:0030141]; secretory granule membrane [GO:0030667]; transport vesicle membrane [GO:0030658]; protein homodimerization activity [GO:0042803]; zinc ion binding [GO:0008270]; zinc ion transmembrane transporter activity [GO:0005385]; cellular zinc ion homeostasis [GO:0006882]; insulin secretion [GO:0030073]; positive regulation of insulin secretion [GO:0032024]; regulation of sequestering of zinc ion [GO:0061088]; regulation of vesicle-mediated transport [GO:0060627]; response to glucose [GO:0009749]; response to interferon-gamma [GO:0034341]; response to interleukin-1 [GO:0070555]; response to zinc ion [GO:0010043]; sequestering of zinc ion [GO:0032119]; zinc ion transmembrane transport [GO:0071577]; zinc ion transport [GO:0006829]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IWU4-1; Sequence=Displayed; Name=2; IsoId=Q8IWU4-2; Sequence=VSP_024025; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Associated with insulin and glucagon secretory granules. {ECO:0000250}.


uniprotID: Q9UL58
geneSymbol: ZNF215
reactome: R-HSA-212436;
length: 517
go: ENSG00000149054;
snps: rs11041107 rs35111903 rs11041108 rs11041115 rs2239730 rs2239729
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Zinc finger protein 215 (BWSCR2-associated zinc finger protein 2) (BAZ-2) (Zinc finger protein with KRAB and SCAN domains 11)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UL58-1; Sequence=Displayed; Name=2; IsoId=Q9UL58-2; Sequence=VSP_054156, VSP_054157; Note=No experimental confirmation available.; 


uniprotID: O95229
geneSymbol: ZWINT
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
name: ZW10 interactor (ZW10-interacting protein 1) (Zwint-1)
length: 277
go: ENSG00000122952;
snps: rs11005328 rs2241666
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; kinetochore [GO:0000776]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein N-terminus binding [GO:0047485]; cell division [GO:0051301]; establishment of localization in cell [GO:0051649]; mitotic cell cycle checkpoint [GO:0007093]; mitotic sister chromatid segregation [GO:0000070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95229-1; Sequence=Displayed; Name=2; IsoId=O95229-2; Sequence=VSP_047660; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Localizes to kinetochores from late prophase to anaphase.


uniprotID: Q96RE9
geneSymbol: ZNF300
reactome: R-HSA-212436;
name: Zinc finger protein 300
length: 604
go: ENSG00000145908;
snps: rs1988688
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14746915, ECO:0000269|PubMed:23665872}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96RE9-1; Sequence=Displayed; Name=2; Synonyms=Zinc finger protein 300-B, ZNF300B; IsoId=Q96RE9-2; Sequence=VSP_036830; Name=3; IsoId=Q96RE9-3; Sequence=VSP_036831; Note=No experimental confirmation available.; Name=4; IsoId=Q96RE9-4; Sequence=VSP_047506; Note=No experimental confirmation available.; 


uniprotID: Q9UK12
geneSymbol: ZNF222
reactome: R-HSA-212436;
name: Zinc finger protein 222
length: 451
go: ENSG00000159885;
snps: rs11880330 rs7258517 rs59926292 rs8112679
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UK12-1; Sequence=Displayed; Name=2; IsoId=Q9UK12-2; Sequence=VSP_046951, VSP_046952; Note=No experimental confirmation available.; 


uniprotID: Q9UDY2
geneSymbol: TJP2
reactome: R-HSA-2028269;R-HSA-351906;
pdb: 2OSG;3E17;
length: 1190
go: ENSG00000119139;
snps: rs121918299 rs2309428 rs34774441 rs35797487 rs1049624 rs1049625
name:
Tight junction protein ZO-2 (Tight junction protein 2) (Zona occludens protein 2) (Zonula occludens protein 2)

sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; guanylate kinase activity [GO:0004385]; protein binding, bridging [GO:0030674]; protein domain specific binding [GO:0019904]; establishment of endothelial intestinal barrier [GO:0090557]; hippo signaling [GO:0035329]; intestinal absorption [GO:0050892]; regulation of membrane permeability [GO:0090559]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=7;  Name=A1; IsoId=Q9UDY2-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=A2; IsoId=Q9UDY2-2; Sequence=VSP_003149; Note=Produced by alternative splicing of isoform A1.; Name=A3; IsoId=Q9UDY2-5; Sequence=VSP_007835, VSP_007836; Note=Produced by alternative splicing of isoform A1.; Name=C1; IsoId=Q9UDY2-3; Sequence=VSP_006953; Note=Produced by alternative promoter usage.; Name=C2; IsoId=Q9UDY2-4; Sequence=VSP_006953, VSP_003149; Note=Produced by alternative splicing of isoform C1.; Name=6; IsoId=Q9UDY2-6; Sequence=VSP_046115, VSP_046116; Note=No experimental confirmation available.; Name=7; IsoId=Q9UDY2-7; Sequence=VSP_046114; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q9Z0U1}. Nucleus {ECO:0000250}. Note=Also nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures. {ECO:0000250}.


uniprotID: Q8N1G0
geneSymbol: ZNF687
name: Zinc finger protein 687
length: 1237
go: ENSG00000143373;
snps: rs869025582 rs3748545 rs12045766 rs148402804
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N1G0-1; Sequence=Displayed; Name=2; IsoId=Q8N1G0-2; Sequence=VSP_018168, VSP_018169; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26849110}. Nucleus {ECO:0000269|PubMed:26849110}. Note=Predominantly nuclear. {ECO:0000269|PubMed:26849110}.


uniprotID: Q8WU90
geneSymbol: ZC3H15
length: 426
go: ENSG00000065548;
snps: rs11555006 rs1043497
name:
Zinc finger CCCH domain-containing protein 15 (DRG family-regulatory protein 1) (Likely ortholog of mouse immediate early response erythropoietin 4)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; cadherin binding [GO:0045296]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; cytokine-mediated signaling pathway [GO:0019221]; cytoplasmic translation [GO:0002181]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WU90-1; Sequence=Displayed; Name=2; IsoId=Q8WU90-2; Sequence=VSP_055992, VSP_055993, VSP_055994; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15676025, ECO:0000269|PubMed:19819225}. Nucleus {ECO:0000250}. Note=The DRG1-DFRP2/ZC3H15 complex associates with polysomes.


uniprotID: Q5FWF6
geneSymbol: ZNF789
name: Zinc finger protein 789
length: 425
go: ENSG00000198556;
snps: rs6962772
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5FWF6-1; Sequence=Displayed; Name=2; IsoId=Q5FWF6-2; Sequence=VSP_026561; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q5FWF6-3; Sequence=VSP_046816, VSP_046817; Note=Gene prediction based on EST data.; 


uniprotID: Q9Y5A6
geneSymbol: ZSCAN21
length: 473
go: ENSG00000166529;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
name:
Zinc finger and SCAN domain-containing protein 21 (Renal carcinoma antigen NY-REN-21) (Zinc finger protein 38 homolog) (Zfp-38)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q8N8H1
geneSymbol: ZNF321P
name: Putative protein ZNF321 (Zinc finger protein 321 pseudogene)
length: 164
sequence:
MMKEFSSTAQGNTEVIHTGTLQRHESHHIRDFCFQEIEKDIHNFEFQWQEEERNGHEAPMTEIKELTGSTDRHDQRHAGNKPIKDQLGSSFHSHLPELHIFQPEWKIGNQVEKSIINASLILTSQRISCSPKTRISNNYGNNSLHSSLPIQKLGSTHERKIFPM


uniprotID: Q8TBK6
geneSymbol: ZCCHC10
name: Zinc finger CCHC domain-containing protein 10
length: 192
go: ENSG00000155329;
opentargets: nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]
sequence:
MATPMHRLIARRQAFDTELQPVKTFWILIQPSIVISEANKQHVRCQKCLEFGHWTYECTGKRKYLHRPSRTAELKKALKEKENRLLLQQSIGETNVERKAKKKRSKSVTSSSSSSSDSSASDSSSESEETSTSSSSEDSDTDESSSSSSSSASSTTSSSSSDSDSDSSSSSSSSTSTDSSSDDEPPKKKKKK

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBK6-1; Sequence=Displayed; Name=2; IsoId=Q8TBK6-2; Sequence=VSP_013718; 


uniprotID: P17032
geneSymbol: ZNF37A
reactome: R-HSA-212436;
name: Zinc finger protein 37A (Zinc finger protein KOX21)
length: 561
go: ENSG00000075407;
snps: rs2021319
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23922231}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q8NDP4
geneSymbol: ZNF439
reactome: R-HSA-212436;
name: Zinc finger protein 439
length: 499
go: ENSG00000171291;
snps: rs10421552 rs10500209
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]


uniprotID: Q8IYI8
geneSymbol: ZNF440
reactome: R-HSA-212436;
name: Zinc finger protein 440
length: 595
go: ENSG00000171295;
snps: rs424132 rs448446 rs427880 rs400106
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]


uniprotID: Q96N77
geneSymbol: ZNF641
reactome: R-HSA-212436;
name: Zinc finger protein 641
length: 438
go: ENSG00000167528;
snps: rs17851618 rs2732481
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16343441}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96N77-1; Sequence=Displayed; Name=2; IsoId=Q96N77-2; Sequence=VSP_024867, VSP_024868; Note=No experimental confirmation available.; Name=3; IsoId=Q96N77-3; Sequence=VSP_024867, VSP_043422; Note=No experimental confirmation available.; Name=4; IsoId=Q96N77-4; Sequence=VSP_024867; Note=No experimental confirmation available.; 


uniprotID: Q03938
geneSymbol: ZNF90
name: Zinc finger protein 90 (Zinc finger protein HTF9)
length: 601
go: ENSG00000213988;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; zinc ion binding [GO:0008270]


uniprotID: Q8NB15
geneSymbol: ZNF511
name: Zinc finger protein 511
length: 262
go: ENSG00000198546;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NB15-1; Sequence=Displayed; Name=2; IsoId=Q8NB15-2; Sequence=VSP_016035; Note=No experimental confirmation available. {ECO:0000244|PubMed:24129315}; 


uniprotID: Q8IZM8
geneSymbol: ZNF654
name: Zinc finger protein 654 (Melanoma-associated antigen)
length: 581
go: ENSG00000175105;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9UL59
geneSymbol: ZNF214
reactome: R-HSA-212436;
name: Zinc finger protein 214 (BWSCR2-associated zinc finger protein 1) (BAZ-1)
length: 606
go: ENSG00000149050;
snps: rs1156526 rs1156525 rs16921097 rs2239734
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; zinc ion binding [GO:0008270]


uniprotID: Q9H0M4
geneSymbol: ZCWPW1
pdb: 2E61;2RR4;
name: Zinc finger CW-type PWWP domain protein 1
length: 648
go: ENSG00000078487;
opentargets: zinc ion binding [GO:0008270]
snps: rs6465770 rs6970350
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9H0M4-1; Sequence=Displayed; Name=2; IsoId=Q9H0M4-2; Sequence=VSP_011432, VSP_011433, VSP_011434, VSP_035590; Note=No experimental confirmation available.; Name=3; IsoId=Q9H0M4-3; Sequence=VSP_011431, VSP_011432, VSP_011436, VSP_035592; Note=No experimental confirmation available.; Name=4; IsoId=Q9H0M4-4; Sequence=VSP_011431, VSP_011432, VSP_035591; Note=No experimental confirmation available.; Name=5; IsoId=Q9H0M4-5; Sequence=VSP_011432, VSP_011436, VSP_035592; 


uniprotID: A6NEH8
geneSymbol: ZNF503-AS2
name: Putative uncharacterized protein encoded by ZNF503-AS2 (ZNF503 antisense RNA 2)
length: 195
sequence:
MGVWGKKHLRLTHAPSPTFSHLPPSPQAGEPGIDGISLAVVCAAFIRIHPARRHPARNGSRLACTPTPRPNAGLEVVSSARVAASLPSEGGWTSGAPRSSGLSLPGSAWQPPPLPVLRKPAWPGSPAVKNESKFPNRGSRNFPRRRLPPAPVSGEPPERCKLAREIRWRLWKAHEGWGGGAKRPLGDPAWSGVKR


uniprotID: Q5SXM1
geneSymbol: ZNF678
reactome: R-HSA-212436;
name: Zinc finger protein 678
length: 525
go: ENSG00000181450;
snps: rs17854209 rs61283390 rs12118505
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q6ZN11
geneSymbol: ZNF793
reactome: R-HSA-212436;
name: Zinc finger protein 793
length: 406
go: ENSG00000188227;
snps: rs12977460 rs45593644
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZN11-1; Sequence=Displayed; Name=2; IsoId=Q6ZN11-2; Sequence=VSP_026565; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZN11-3; Sequence=VSP_026564; 


uniprotID: Q92610
geneSymbol: ZNF592
name: Zinc finger protein 592
length: 1267
go: ENSG00000166716;
snps: rs8182086 rs150829393
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q5CZA5
geneSymbol: ZNF805
name: Zinc finger protein 805
length: 627
go: ENSG00000204524;
snps: rs2014572
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5CZA5-1; Sequence=Displayed; Note=Gene prediction based on similarity to orthologs.; Name=2; IsoId=Q5CZA5-2; Sequence=VSP_040823; 


uniprotID: Q16587
geneSymbol: ZNF74
reactome: R-HSA-212436;
name: Zinc finger protein 74 (Zinc finger protein 520) (hZNF7)
length: 644
go: ENSG00000185252;
snps: rs3747076
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; multicellular organism development [GO:0007275]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; IsoId=Q16587-1; Sequence=Displayed; Name=1; IsoId=Q16587-2; Sequence=VSP_006891; Name=3; IsoId=Q16587-3; Sequence=VSP_006892; Name=4; IsoId=Q16587-4; Sequence=VSP_006893; Name=5; IsoId=Q16587-5; Sequence=VSP_045530, VSP_045531; Note=No experimental confirmation available.; 


uniprotID: Q15937
geneSymbol: ZNF79
reactome: R-HSA-212436;
name: Zinc finger protein 79 (ZNFpT7)
length: 498
go: ENSG00000196152;
snps: rs13292096 rs4504745 rs3210752
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q14590
geneSymbol: ZNF235
reactome: R-HSA-212436;
length: 738
go: ENSG00000159917;
snps: rs2125579
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Zinc finger protein 235 (Zinc finger protein 270) (Zinc finger protein 93 homolog) (Zfp-93) (Zinc finger protein HZF6)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14590-1; Sequence=Displayed; Name=2; IsoId=Q14590-2; Sequence=VSP_022166; 


uniprotID: Q9H7R0
geneSymbol: ZNF442
reactome: R-HSA-212436;
name: Zinc finger protein 442
length: 627
go: ENSG00000198342;
snps: rs10423273 rs10415207 rs10414971 rs757755988 rs11085808 rs10500210
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7R0-1; Sequence=Displayed; Name=2; IsoId=Q9H7R0-2; Sequence=VSP_055953; Note=No experimental confirmation available.; 


uniprotID: Q9H2Y7
geneSymbol: ZNF106
name: Zinc finger protein 106 (Zfp-106) (Zinc finger protein 474)
length: 1883
go: ENSG00000103994;
snps: rs12440118 rs12101559 rs34792942 rs34983340
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleolus [GO:0005730]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; SH3 domain binding [GO:0017124]; insulin receptor signaling pathway [GO:0008286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2Y7-1; Sequence=Displayed; Name=2; IsoId=Q9H2Y7-2; Sequence=VSP_057120, VSP_057121; Note=No experimental confirmation available. {ECO:0000244|PubMed:28112733}; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250|UniProtKB:O88466}. Nucleus speckle {ECO:0000250|UniProtKB:O88466}. Note=Colocalizes with RBM39 in nuclear speckles. Inhibition of RNA synthesis, or overexpression of KNOP1, induces translocation from nuclear speckles to the nucleolus. {ECO:0000250|UniProtKB:O88466}.


uniprotID: Q9NWS9
geneSymbol: ZNF446
reactome: R-HSA-212436;
name: Zinc finger protein 446 (Zinc finger protein with KRAB and SCAN domains 20)
length: 450
go: ENSG00000083838;
snps: rs893185 rs36095067 rs882610
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
sequence:

opentargets:
extracellular space [GO:0005615]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWS9-1; Sequence=Displayed; Name=2; IsoId=Q9NWS9-2; Sequence=VSP_058945; 


uniprotID: O75346
geneSymbol: ZNF253
reactome: R-HSA-212436;
name: Zinc finger protein 253 (Bone marrow zinc finger 1) (BMZF-1) (Zinc finger protein 411)
length: 499
go: ENSG00000256771;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; 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=O75346-1; Sequence=Displayed; Name=2; IsoId=O75346-2; Sequence=VSP_036962; 


uniprotID: Q32M78
geneSymbol: ZNF699
reactome: R-HSA-212436;
name: Zinc finger protein 699 (Hangover homolog)
length: 642
go: ENSG00000196110;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9H0M5
geneSymbol: ZNF700
reactome: R-HSA-212436;
name: Zinc finger protein 700
length: 742
go: ENSG00000196757;
snps: rs12327617 rs17001730
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9NV72
geneSymbol: ZNF701
reactome: R-HSA-212436;
name: Zinc finger protein 701
length: 531
go: ENSG00000167562;
snps: rs162832 rs366793 rs12462687 rs427127 rs373554 rs3745102 rs444172
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NV72-1; Sequence=Displayed; Name=2; IsoId=Q9NV72-2; Sequence=VSP_055969; Note=No experimental confirmation available.; 


uniprotID: Q8NEG5
geneSymbol: ZSWIM2
pdb: 2DIP;
length: 633
go: ENSG00000163012;
name:
E3 ubiquitin-protein ligase ZSWIM2 (EC 2.3.2.27) (MEKK1-related protein X) (MEX) (RING-type E3 ubiquitin transferase ZSWIM2) (ZZ-type zinc finger-containing protein 2) (Zinc finger SWIM domain-containing protein 2)

sequence:

opentargets:
protein self-association [GO:0043621]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902043]; protein polyubiquitination [GO:0000209]


uniprotID: Q9C0B5
geneSymbol: ZDHHC5
length: 715
go: ENSG00000156599;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
name:
Palmitoyltransferase ZDHHC5 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 5) (DHHC-5) (Zinc finger protein 375)

sequence:

opentargets:
dendrite [GO:0030425]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; palmitoyltransferase activity [GO:0016409]; protein-cysteine S-palmitoyltransferase activity [GO:0019706]; protein palmitoylation [GO:0018345]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0B5-1; Sequence=Displayed; Name=2; IsoId=Q9C0B5-2; Sequence=VSP_006935; Note=No experimental confirmation available.; 


uniprotID: Q8TAU3
geneSymbol: ZNF417
reactome: R-HSA-212436;
name: Zinc finger protein 417
length: 575
go: ENSG00000173480;
snps: rs10416584
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TAU3-1; Sequence=Displayed; Name=2; IsoId=Q8TAU3-2; Sequence=VSP_055950; Note=No experimental confirmation available.; 


uniprotID: Q8ND25
geneSymbol: ZNRF1
reactome: R-HSA-983168;
pdb: 5YWR;
length: 227
go: ENSG00000186187;
name:
E3 ubiquitin-protein ligase ZNRF1 (EC 2.3.2.27) (Nerve injury-induced gene 283 protein) (RING-type E3 ubiquitin transferase ZNRF1) (Zinc/RING finger protein 1)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; endosome [GO:0005768]; lysosome [GO:0005764]; membrane [GO:0016020]; synaptic vesicle membrane [GO:0030672]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein K48-linked ubiquitination [GO:0070936]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8ND25-1; Sequence=Displayed; Name=2; IsoId=Q8ND25-2; Sequence=VSP_023088; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome. Lysosome. Membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Associated with synaptic vesicle membranes in neurons.


uniprotID: O60281
geneSymbol: ZNF292
pdb: 1X3C;
name: Zinc finger protein 292
length: 2723
go: ENSG00000188994;
snps: rs9362415 rs6910541
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60281-1; Sequence=Displayed; Name=2; IsoId=O60281-2; Sequence=VSP_038857, VSP_038858; Note=Gene prediction based on EST data.; 


uniprotID: Q96KM6
geneSymbol: ZNF512B
pdb: 2GQJ;
name: Zinc finger protein 512B
length: 892
go: ENSG00000196700;
snps: rs45486695 rs817326 rs6062599
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9UEG4
geneSymbol: ZNF629
name: Zinc finger protein 629 (Zinc finger protein 65)
length: 869
go: ENSG00000102870;
snps: rs8050758
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q6ZN06
geneSymbol: ZNF813
name: Zinc finger protein 813
length: 617
go: ENSG00000198346;
snps: rs2617667 rs12609217 rs12460628 rs3859494 rs10421308 rs10422163
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q96LW9
geneSymbol: ZSCAN31
name: Zinc finger and SCAN domain-containing protein 31 (Zinc finger protein 323)
length: 406
go: ENSG00000235109;
snps: rs853678 rs6922302 rs853684 rs34223404 rs2394051
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LW9-1; Sequence=Displayed; Name=2; IsoId=Q96LW9-2; Sequence=VSP_047105; 


uniprotID: Q96LX8
geneSymbol: ZNF597
reactome: R-HSA-212436;
name: Zinc finger protein 597
length: 424
go: ENSG00000167981;
snps: rs2270493
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; 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]


uniprotID: Q8WV99
geneSymbol: ZFAND2B
pdb: 1X4V;
length: 257
go: ENSG00000158552;
name:
AN1-type zinc finger protein 2B (Arsenite-inducible RNA-associated protein-like protein) (AIRAP-like protein)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; proteasome complex [GO:0000502]; K48-linked polyubiquitin modification-dependent protein binding [GO:0036435]; ubiquitin binding [GO:0043130]; zinc ion binding [GO:0008270]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein targeting to ER [GO:0045047]; regulation of insulin-like growth factor receptor signaling pathway [GO:0043567]; SRP-dependent cotranslational protein targeting to membrane, translocation [GO:0006616]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WV99-1; Sequence=Displayed; Name=2; IsoId=Q8WV99-2; Sequence=VSP_018001; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q91X58}; Lipid-anchor {ECO:0000250|UniProtKB:Q91X58}.


uniprotID: Q8WTX9
geneSymbol: ZDHHC1
length: 485
go: ENSG00000159714;
snps: rs34229857
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable palmitoyltransferase ZDHHC1 (EC 2.3.1.225) (DHHC domain-containing cysteine-rich protein 1) (Zinc finger DHHC domain-containing protein 1) (DHHC-1) (Zinc finger protein 377)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; DNA binding [GO:0003677]; palmitoyltransferase activity [GO:0016409]; protein-cysteine S-palmitoyltransferase activity [GO:0019706]; peptidyl-L-cysteine S-palmitoylation [GO:0018230]; protein palmitoylation [GO:0018345]; protein targeting to membrane [GO:0006612]


uniprotID: Q9BU19
geneSymbol: ZNF692
reactome: R-HSA-212436;
pdb: 2D9H;2DLK;
name: Zinc finger protein 692
length: 519
go: ENSG00000171163;
snps: rs13313088
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BU19-1; Sequence=Displayed; Name=2; IsoId=Q9BU19-2; Sequence=VSP_018188; Note=No experimental confirmation available.; Name=3; IsoId=Q9BU19-3; Sequence=VSP_018186; Name=4; IsoId=Q9BU19-4; Sequence=VSP_018185, VSP_018187; Note=No experimental confirmation available.; Name=5; IsoId=Q9BU19-5; Sequence=VSP_043025; Note=No experimental confirmation available.; 


uniprotID: P17036
geneSymbol: ZNF3
reactome: R-HSA-212436;
length: 446
go: ENSG00000166526;
snps: rs11550034
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Zinc finger protein 3 (Zinc finger protein HF.12) (Zinc finger protein HZF3.1) (Zinc finger protein KOX25)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; zinc ion binding [GO:0008270]; cell differentiation [GO:0030154]; leukocyte activation [GO:0045321]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P17036-1; Sequence=Displayed; Name=2; IsoId=P17036-2; Sequence=VSP_041156; 


uniprotID: Q9Y2L8
geneSymbol: ZKSCAN5
reactome: R-HSA-212436;
pdb: 2EM5;2EMM;2EMZ;2EN3;2EOM;2EON;2EOO;2YSO;2YTG;
name: Zinc finger protein with KRAB and SCAN domains 5 (Zinc finger protein 95 homolog) (Zfp-95)
length: 839
go: ENSG00000196652;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; zinc ion binding [GO:0008270]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q96PM5
geneSymbol: RCHY1
reactome: R-HSA-110320;R-HSA-983168;
pdb: 2JRJ;2K2C;2K2D;
length: 261
go: ENSG00000163743;
location: SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Cytoplasm.
name:
RING finger and CHY zinc finger domain-containing protein 1 (EC 2.3.2.27) (Androgen receptor N-terminal-interacting protein) (CH-rich-interacting match with PLAG1) (E3 ubiquitin-protein ligase Pirh2) (RING finger protein 199) (RING-type E3 ubiquitin transferase RCHY1) (Zinc finger protein 363) (p53-induced RING-H2 protein) (hPirh2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; p53 binding [GO:0002039]; protein homodimerization activity [GO:0042803]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; error-free translesion synthesis [GO:0070987]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein ubiquitination [GO:0031398]; protein autoubiquitination [GO:0051865]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=A; IsoId=Q96PM5-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q96PM5-2; Sequence=VSP_038467; Name=3; Synonyms=C; IsoId=Q96PM5-3; Sequence=VSP_038468; Name=4; Synonyms=Pirh2b; IsoId=Q96PM5-4; Sequence=VSP_044085; Note=No ubiquitin protein ligase activity. Down-regulated in hepatocellular carcinoma.; Name=5; Synonyms=Pirh2D; IsoId=Q96PM5-5; Sequence=VSP_053385, VSP_053386; Name=6; IsoId=Q96PM5-6; Sequence=VSP_053787; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=7; IsoId=Q96PM5-7; Sequence=VSP_053788; Note=No experimental confirmation available. Gene prediction based on partial mRNA data.; Name=8; IsoId=Q96PM5-8; Sequence=VSP_053788, VSP_038467; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9Y397
geneSymbol: ZDHHC9
length: 364
go: ENSG00000188706;
snps: rs137852214 rs137852215
name:
Palmitoyltransferase ZDHHC9 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 9) (DHHC-9) (DHHC9) (Zinc finger protein 379) (Zinc finger protein 380)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; intrinsic component of Golgi membrane [GO:0031228]; palmitoyltransferase complex [GO:0002178]; palmitoyltransferase activity [GO:0016409]; protein-cysteine S-palmitoyltransferase activity [GO:0019706]; Ras palmitoyltransferase activity [GO:0043849]; peptidyl-L-cysteine S-palmitoylation [GO:0018230]; protein palmitoylation [GO:0018345]; protein targeting to membrane [GO:0006612]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16000296}; Multi-pass membrane protein {ECO:0000269|PubMed:16000296}. Golgi apparatus membrane {ECO:0000269|PubMed:16000296}; Multi-pass membrane protein {ECO:0000269|PubMed:16000296}.


uniprotID: Q0VGE8
geneSymbol: ZNF816
name: Zinc finger protein 816
length: 651
go: ENSG00000180257;
snps: rs12459008 rs11084210
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q92670
geneSymbol: ZNF75CP
reactome: R-HSA-212436;
name: Putative zinc finger protein 75C (Zinc finger protein 75C pseudogene)
length: 426
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]


uniprotID: Q8NA42
geneSymbol: ZNF383
reactome: R-HSA-212436;
name: Zinc finger protein 383
length: 475
go: ENSG00000188283;
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15964543}. Cytoplasm {ECO:0000269|PubMed:15964543}. Note=Shuttling between the nucleus and cytoplasm may occur under different stimulation and growth conditions.


uniprotID: Q8N0Y2
geneSymbol: ZNF444
length: 327
go: ENSG00000167685;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
name:
Zinc finger protein 444 (Endothelial zinc finger protein 2) (EZF-2) (Zinc finger and SCAN domain-containing protein 17)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N0Y2-1; Sequence=Displayed; Name=2; IsoId=Q8N0Y2-2; Sequence=VSP_008798; 


uniprotID: P59923
geneSymbol: ZNF445
reactome: R-HSA-212436;
length: 1031
go: ENSG00000185219;
snps: rs11710965
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
name:
Zinc finger protein 445 (Zinc finger protein 168) (Zinc finger protein with KRAB and SCAN domains 15)

sequence:


uniprotID: Q6ZSB9
geneSymbol: ZBTB49
name: Zinc finger and BTB domain-containing protein 49 (Zinc finger protein 509)
length: 765
go: ENSG00000168826;
snps: rs2920217 rs4689254 rs146575965 rs34293093
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; transcription coactivator binding [GO:0001223]; transcription factor binding [GO:0008134]; cell cycle arrest [GO:0007050]; negative regulation of cell proliferation [GO:0008285]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=ZNF509L; IsoId=Q6ZSB9-1; Sequence=Displayed; Name=2; IsoId=Q6ZSB9-2; Sequence=VSP_016343; Note=No experimental confirmation available.; Name=3; Synonyms=ZNF509S1; IsoId=Q6ZSB9-3; Sequence=VSP_057623, VSP_057625; Name=4; Synonyms=ZNF509S2; IsoId=Q6ZSB9-4; Sequence=VSP_057624, VSP_057625; Name=5; Synonyms=ZNF509S3; IsoId=Q6ZSB9-5; Sequence=VSP_057626, VSP_057627; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:25245946}. Nucleus {ECO:0000269|PubMed:25245946}. Note=Predominantly located in the nucleus. {ECO:0000269|PubMed:25245946}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:25245946}. Nucleus {ECO:0000269|PubMed:25245946}.


uniprotID: O95365
geneSymbol: ZBTB7A
pdb: 2IF5;2NN2;
length: 584
go: ENSG00000178951;
name:
Zinc finger and BTB domain-containing protein 7A (Factor binding IST protein 1) (FBI-1) (Factor that binds to inducer of short transcripts protein 1) (HIV-1 1st-binding protein 1) (Leukemia/lymphoma-related factor) (POZ and Krueppel erythroid myeloid ontogenic factor) (POK erythroid myeloid ontogenic factor) (Pokemon) (Pokemon 1) (TTF-I-interacting peptide 21) (TIP21) (Zinc finger protein 857A)

sequence:

opentargets:
cytoplasm [GO:0005737]; DNA-dependent protein kinase complex [GO:0070418]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; activating transcription factor binding [GO:0033613]; androgen receptor binding [GO:0050681]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase binding [GO:0035035]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; SMAD binding [GO:0046332]; transcription corepressor activity [GO:0003714]; transcription corepressor binding [GO:0001222]; B cell differentiation [GO:0030183]; cellular response to DNA damage stimulus [GO:0006974]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; double-strand break repair via classical nonhomologous end joining [GO:0097680]; erythrocyte maturation [GO:0043249]; fat cell differentiation [GO:0045444]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein localization to nucleus [GO:0034504]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of apoptotic process [GO:0042981]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of glycolytic process [GO:0006110]; regulation of transcription regulatory region DNA binding [GO:2000677]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17595526, ECO:0000269|PubMed:24514149}. Note=Recruited to double-strand break sites of damaged DNA. {ECO:0000250|UniProtKB:O88939}.


uniprotID: Q9Y2X9
geneSymbol: ZNF281
length: 895
go: ENSG00000162702;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10448078}.
name:
Zinc finger protein 281 (GC-box-binding zinc finger protein 1) (Transcription factor ZBP-99) (Zinc finger DNA-binding protein 99)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; embryonic body morphogenesis [GO:0010172]; negative regulation of gene expression [GO:0010629]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]; stem cell differentiation [GO:0048863]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2X9-1; Sequence=Displayed; Name=2; IsoId=Q9Y2X9-2; Sequence=VSP_054815; Note=Gene prediction based on EST data. {ECO:0000244|PubMed:28112733}; 


uniprotID: Q9P0T4
geneSymbol: ZNF581
name: Zinc finger protein 581
length: 197
go: ENSG00000171425;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MLVLPSPCPQPLAFSSVETMEGPPRRTCRSPEPGPSSSIGSPQASSPPRPNHYLLIDTQGVPYTVLVDEESQREPGASGAPGQKKCYSCPVCSRVFEYMSYLQRHSITHSEVKPFECDICGKAFKRASHLARHHSIHLAGGGRPHGCPLCPRRFRDAGELAQHSRVHSGERPFQCPHCPRRFMEQNTLQKHTRWKHP


uniprotID: P43403
geneSymbol: ZAP70
reactome: R-HSA-202430;R-HSA-202433;
pdb: 1FBV;1M61;1U59;2CBL;2OQ1;2OZO;2Y1N;3ZNI;4A4B;4A4C;4K2R;4XZ0;4XZ1;5O76;
length: 619
go: ENSG00000115085;
drug: DB02010;
snps: rs55964305 rs56403250 rs199840952 rs869025224 rs113994174 rs137853201 rs104893674 rs56189815
name:
Tyrosine-protein kinase ZAP-70 (EC 2.7.10.2) (70 kDa zeta-chain associated protein) (Syk-related tyrosine kinase)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; immunological synapse [GO:0001772]; plasma membrane [GO:0005886]; T cell receptor complex [GO:0042101]; ATP binding [GO:0005524]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphotyrosine residue binding [GO:0001784]; protein tyrosine kinase activity [GO:0004713]; adaptive immune response [GO:0002250]; B cell activation [GO:0042113]; beta selection [GO:0043366]; immune response [GO:0006955]; intracellular signal transduction [GO:0035556]; negative thymic T cell selection [GO:0045060]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; positive regulation of alpha-beta T cell proliferation [GO:0046641]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of T cell differentiation [GO:0045582]; positive thymic T cell selection [GO:0045059]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; T cell activation [GO:0042110]; T cell aggregation [GO:0070489]; T cell differentiation [GO:0030217]; T cell migration [GO:0072678]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P43403-1; Sequence=Displayed; Name=2; Synonyms=TZK; IsoId=P43403-2; Sequence=VSP_031156; Name=3; IsoId=P43403-3; Sequence=VSP_031157, VSP_031158; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9813084}. Cell membrane {ECO:0000269|PubMed:9813084}; Peripheral membrane protein {ECO:0000269|PubMed:9813084}. Note=In quiescent T-lymphocytes, it is cytoplasmic. Upon TCR activation, it is recruited at the plasma membrane by interacting with CD247/CD3Z. Colocalizes together with RHOH in the immunological synapse. RHOH is required for its proper localization to the cell membrane and cytoskeleton fractions in the thymocytes (By similarity). {ECO:0000250}.


uniprotID: Q96PE6
geneSymbol: ZIM3
reactome: R-HSA-212436;
name: Zinc finger imprinted 3 (Zinc finger protein 657)
length: 472
go: ENSG00000141946;
snps: rs10407445 rs2370134 rs4801200 rs7252632 rs35202951 rs4801433
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q96I27
geneSymbol: ZNF625
reactome: R-HSA-212436;
name: Zinc finger protein 625
length: 306
go: ENSG00000257591;
snps: rs7258368
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96I27-1; Sequence=Displayed; Name=2; IsoId=Q96I27-2; Sequence=VSP_046327; Note=No experimental confirmation available.; 


uniprotID: Q96B54
geneSymbol: ZNF428
name: Zinc finger protein 428 (Enzyme-like protein PIT13)
length: 188
go: ENSG00000131116;
opentargets: metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]
sequence:
MTETREPAETGGYASLEEDDEDLSPGPEHSSDSEYTLSEPDSEEEEDEEEEEEETTDDPEYDPGYKVKQRLGGGRGGPSRRAPRAAQPPAQPCQLCGRSPLGEAPPGTPPCRLCCPATAPQEAPAPEGRALGEEEEEPPRAGEGRPAGREEEEEEEEEGTYHCTECEDSFDNLGELHGHFMLHARGEV


uniprotID: Q16670
geneSymbol: ZSCAN26
name: Zinc finger and SCAN domain-containing protein 26 (Protein SRE-ZBP) (Zinc finger protein 187)
length: 478
go: ENSG00000197062;
snps: rs16893892 rs11965538 rs11965542 rs17851075
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187, ECO:0000269|PubMed:1569959}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; myelination [GO:0042552]; 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=Q16670-1; Sequence=Displayed; Name=2; IsoId=Q16670-2; Sequence=VSP_028702; 


uniprotID: Q6XR72
geneSymbol: SLC30A10
reactome: R-HSA-425410;
name: Zinc transporter 10 (ZnT-10) (Manganese transporter SLC30A10) (Solute carrier family 30 member 10)
length: 485
go: ENSG00000196660;
snps: rs281860284 rs281860286 rs281860291
sequence:

opentargets:
early endosome [GO:0005769]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; manganese ion transmembrane transporter activity [GO:0005384]; cellular response to angiotensin [GO:1904385]; epidermal growth factor receptor signaling pathway [GO:0007173]; manganese ion transmembrane transport [GO:0071421]; manganese ion transport [GO:0006828]; negative regulation of cellular senescence [GO:2000773]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of reactive oxygen species biosynthetic process [GO:1903427]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; regulation of cellular response to manganese ion [GO:1905802]; regulation of zinc ion transport [GO:0071579]; zinc ion transport [GO:0006829]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6XR72-4; Sequence=Displayed; Name=2; IsoId=Q6XR72-2; Sequence=VSP_029863; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q6XR72-3; Sequence=VSP_029864, VSP_029865; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22706290, ECO:0000269|PubMed:25319704, ECO:0000269|PubMed:26728129}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:22706290}. Recycling endosome {ECO:0000269|PubMed:22427991, ECO:0000269|PubMed:26728129}. Early endosome {ECO:0000269|PubMed:22427991}. Note=Relocalized from the trans-Golgi network to the plasma membrane upon elevated extracellular Zn concentrations (PubMed:22706290). {ECO:0000269|PubMed:22706290}.


uniprotID: Q7RTV3
geneSymbol: ZNF367
name: Zinc finger protein 367 (C2H2 zinc finger protein ZFF29)
length: 350
go: ENSG00000165244;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15344908}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=ZFF29B; IsoId=Q7RTV3-1; Sequence=Displayed; Name=2; Synonyms=ZFF29A; IsoId=Q7RTV3-2; Sequence=VSP_024865; Note=No experimental confirmation available.; 


uniprotID: Q13360
geneSymbol: ZNF177
name: Zinc finger protein 177
length: 481
go: ENSG00000188629;ENSG00000270011;
snps: rs2230750 rs2217652 rs2230752
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
blood microparticle [GO:0072562]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13360-1; Sequence=Displayed; Name=2; IsoId=Q13360-2; Sequence=VSP_044461; Name=3; IsoId=Q13360-3; Sequence=VSP_045841, VSP_045842; 


uniprotID: Q96GR4
geneSymbol: ZDHHC12
length: 267
go: ENSG00000160446;
snps: rs2298039 rs2900268
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable palmitoyltransferase ZDHHC12 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 12) (DHHC-12) (Zinc finger protein 400)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; palmitoyltransferase activity [GO:0016409]; protein-cysteine S-palmitoyltransferase activity [GO:0019706]; peptidyl-L-cysteine S-palmitoylation [GO:0018230]; protein palmitoylation [GO:0018345]; protein targeting to membrane [GO:0006612]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96GR4-1; Sequence=Displayed; Name=2; IsoId=Q96GR4-2; Sequence=VSP_006945; Name=3; IsoId=Q96GR4-3; Sequence=VSP_016271; Note=No experimental confirmation available.; 


uniprotID: Q9UID6
geneSymbol: ZNF639
name: Zinc finger protein 639 (Zinc finger protein ANC_2H01) (Zinc finger protein ZASC1)
length: 485
go: ENSG00000121864;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14522885, ECO:0000269|PubMed:16182284}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein self-association [GO:0043621]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region DNA binding [GO:0044212]; negative regulation by host of viral transcription [GO:0043922]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of cell growth [GO:0030307]; positive regulation of transcription by RNA polymerase II [GO:0045944]; viral entry into host cell [GO:0046718]


uniprotID: Q5BKZ1
geneSymbol: ZNF326
length: 582
go: ENSG00000162664;
location: SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000250}.
name:
DBIRD complex subunit ZNF326 (Zinc finger protein 326) (Zinc finger protein interacting with mRNPs and DBC1)

sequence:

opentargets:
DBIRD complex [GO:0044609]; intracellular membrane-bounded organelle [GO:0043231]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; RNA polymerase II complex binding [GO:0000993]; mRNA processing [GO:0006397]; regulation of DNA-templated transcription, elongation [GO:0032784]; regulation of RNA splicing [GO:0043484]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5BKZ1-1; Sequence=Displayed; Name=2; IsoId=Q5BKZ1-2; Sequence=VSP_014956; Note=No experimental confirmation available.; Name=3; IsoId=Q5BKZ1-3; Sequence=VSP_043772; Note=No experimental confirmation available.; 


uniprotID: Q8TCN5
geneSymbol: ZNF507
name: Zinc finger protein 507
length: 953
go: ENSG00000168813;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; regulation of gene expression [GO:0010468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TCN5-1; Sequence=Displayed; Name=2; IsoId=Q8TCN5-2; Sequence=VSP_035357, VSP_035358; 


uniprotID: Q9UFB7
geneSymbol: ZBTB47
name: Zinc finger and BTB domain-containing protein 47 (Zinc finger protein 651)
length: 747
go: ENSG00000114853;
snps: rs9878239
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cellular response to DNA damage stimulus [GO:0006974]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UFB7-1; Sequence=Displayed; Name=2; IsoId=Q9UFB7-2; Sequence=VSP_054051; Note=No experimental confirmation available.; 


uniprotID: P0CG00
geneSymbol: ZSCAN5DP
length: 497
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
name:
Putative zinc finger and SCAN domain-containing protein 5D (Zinc finger and SCAN domain-containing protein 5D pseudogene)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]


uniprotID: Q9HCJ5
geneSymbol: ZSWIM6
name: Zinc finger SWIM domain-containing protein 6
length: 1215
go: ENSG00000130449;
snps: rs587777695
sequence:

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; zinc ion binding [GO:0008270]; regulation of axon guidance [GO:1902667]


uniprotID: A7E2V4
geneSymbol: ZSWIM8
reactome: R-HSA-9010553;
name: Zinc finger SWIM domain-containing protein 8
length: 1837
go: ENSG00000214655;
sequence:

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; zinc ion binding [GO:0008270]; regulation of axon guidance [GO:1902667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A7E2V4-1; Sequence=Displayed; Name=2; IsoId=A7E2V4-2; Sequence=VSP_029590, VSP_029591; Note=No experimental confirmation available.; Name=3; IsoId=A7E2V4-3; Sequence=VSP_029586, VSP_029587, VSP_029590; Note=No experimental confirmation available.; Name=4; IsoId=A7E2V4-4; Sequence=VSP_029586; Note=No experimental confirmation available.; Name=5; IsoId=A7E2V4-5; Sequence=VSP_029590; Note=No experimental confirmation available.; 


uniprotID: Q9P2Y4
geneSymbol: ZNF219
name: Zinc finger protein 219
length: 722
go: ENSG00000165804;
snps: rs17853549
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10819330, ECO:0000269|PubMed:14621294}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histamine receptor activity [GO:0004969]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; limb bud formation [GO:0060174]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of neurotransmitter levels [GO:0001505]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]


uniprotID: O75373
geneSymbol: ZNF737
reactome: R-HSA-212436;
name: Zinc finger protein 737 (Zinc finger protein 102)
length: 536
go: ENSG00000237440;
snps: rs7254995 rs9653154 rs10410201 rs10411329
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: P31629
geneSymbol: HIVEP2
length: 2446
go: ENSG00000010818;
snps: rs17072013 rs34875559 rs35675714 rs109836
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcription factor HIVEP2 (Human immunodeficiency virus type I enhancer-binding protein 2) (HIV-EP2) (MHC-binding protein 2) (MBP-2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]


uniprotID: P17020
geneSymbol: ZNF16
name: Zinc finger protein 16 (Zinc finger protein KOX9)
length: 682
go: ENSG00000170631;
snps: rs3735784 rs3735786
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16628192}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to sodium dodecyl sulfate [GO:0072707]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell cycle phase transition [GO:1901989]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of kinase activity [GO:0033674]; positive regulation of megakaryocyte differentiation [GO:0045654]


uniprotID: Q86WZ6
geneSymbol: ZNF227
reactome: R-HSA-212436;
name: Zinc finger protein 227
length: 799
go: ENSG00000131115;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86WZ6-1; Sequence=Displayed; Name=2; IsoId=Q86WZ6-2; Sequence=VSP_056544; Note=No experimental confirmation available.; 


uniprotID: P17026
geneSymbol: ZNF22
name: Zinc finger protein 22 (Zinc finger protein KOX15) (Zinc finger protein Krox-26)
length: 224
go: ENSG00000165512;
snps: rs3740093
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; zinc ion binding [GO:0008270]; odontogenesis [GO:0042476]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q6ZRF7
geneSymbol: ZNF818P
name: Putative zinc finger protein 818
length: 136
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]
snps: rs10853858
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MLERNLTSMMSVEEPLPRPLTSLYIRLSILERNHMNMTYMAKSSVKIHISKVIIGFVLKRSLTNVCGKVLSQNSHLVNHQRIHTGEKSYRCHECGKAFTQGSRFINHQIVHTGENFPNVLNVARLLRMALNSGLTK


uniprotID: Q6V9R5
geneSymbol: ZNF562
reactome: R-HSA-212436;
name: Zinc finger protein 562
length: 426
go: ENSG00000171466;
snps: rs1163497365 rs1059199 rs1059199
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6V9R5-1; Sequence=Displayed; Name=2; IsoId=Q6V9R5-2; Sequence=VSP_016379, VSP_016380; Note=No experimental confirmation available.; 


uniprotID: Q8TA94
geneSymbol: ZNF563
reactome: R-HSA-212436;
name: Zinc finger protein 563
length: 476
go: ENSG00000188868;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TA94-1; Sequence=Displayed; Name=2; IsoId=Q8TA94-2; Sequence=VSP_016381, VSP_016382; Note=No experimental confirmation available.; 


uniprotID: Q8NBB4
geneSymbol: ZSCAN1
name: Zinc finger and SCAN domain-containing protein 1
length: 408
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBB4-1; Sequence=Displayed; Name=2; IsoId=Q8NBB4-2; Sequence=VSP_011953, VSP_011954; 


uniprotID: Q6ZNG1
geneSymbol: ZNF600
reactome: R-HSA-212436;
name: Zinc finger protein 600
length: 722
go: ENSG00000189190;
snps: rs7252818 rs7252128 rs1820128
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q5TFG8
geneSymbol: ZC2HC1B
name: Zinc finger C2HC domain-containing protein 1B
length: 222
opentargets: metal ion binding [GO:0046872]
snps: rs6934118
sequence:


uniprotID: O75437
geneSymbol: ZNF254
reactome: R-HSA-212436;
length: 659
go: ENSG00000213096;
snps: rs17854260 rs403356 rs2925930 rs12611425 rs2446056
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Zinc finger protein 254 (Bone marrow zinc finger 5) (BMZF-5) (Hematopoietic cell-derived zinc finger protein 1) (HD-ZNF1) (Zinc finger protein 539) (Zinc finger protein 91-like)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75437-1; Sequence=Displayed; Name=2; IsoId=O75437-2; Sequence=VSP_022010; 


uniprotID: Q9H963
geneSymbol: ZNF702P
reactome: R-HSA-212436;
name: Putative zinc finger protein 702
length: 129
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MREKSFQCNESGKAFNCSSLLKKCQIIHLGEKKYKCDICGKVFNQKRYLAYHHRCHTGEKPYKCNQCGKTFSYKSSLVIHKAIHTGEKPHKCNECGKVFNQKAYLASHHRLHTGEKPYKCEECDKVFSR


uniprotID: Q5TYW1
geneSymbol: ZNF658
reactome: R-HSA-212436;
name: Zinc finger protein 658
length: 1059
go: ENSG00000274349;
snps: rs2065444
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; cellular response to zinc ion [GO:0071294]; negative regulation of transcription, DNA-templated [GO:0045892]; ribosome biogenesis [GO:0042254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TYW1-1; Sequence=Displayed; Name=2; IsoId=Q5TYW1-2; Sequence=VSP_023671, VSP_023672; Note=No experimental confirmation available.; 


uniprotID: Q07157
geneSymbol: TJP1
reactome: R-HSA-191647;R-HSA-2028269;R-HSA-351906;R-HSA-8935964;
pdb: 2H2B;2H2C;2H3M;2JWE;2KXR;2KXS;2RCZ;3CYY;3LH5;3SHU;3SHW;3TSV;3TSW;3TSZ;4OEO;4OEP;4Q2Q;4YYX;
length: 1748
go: ENSG00000104067;
snps: rs2229517 rs2229515 rs45529137 rs45567033 rs2291166 rs45578638
name:
Tight junction protein ZO-1 (Tight junction protein 1) (Zona occludens protein 1) (Zonula occludens protein 1)

sequence:

opentargets:
apical junction complex [GO:0043296]; apical part of cell [GO:0045177]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cell projection [GO:0042995]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; gap junction [GO:0005921]; plasma membrane [GO:0005886]; podosome [GO:0002102]; cadherin binding [GO:0045296]; calmodulin binding [GO:0005516]; cell-cell junction assembly [GO:0007043]; cell-cell signaling involved in cell-cell junction organization [GO:1901350]; establishment of endothelial intestinal barrier [GO:0090557]; hippo signaling [GO:0035329]; regulation of bicellular tight junction assembly [GO:2000810]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q07157-1; Sequence=Displayed; Name=Short; IsoId=Q07157-2; Sequence=VSP_003148; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:7798316}; Peripheral membrane protein {ECO:0000269|PubMed:7798316}; Cytoplasmic side {ECO:0000269|PubMed:7798316}. Cell junction, tight junction {ECO:0000269|PubMed:7798316}. Cell junction {ECO:0000269|PubMed:28169360}. Cell junction, gap junction. Cell projection, podosome {ECO:0000269|PubMed:20930113}. Note=Moves from the cytoplasm to the cell membrane concurrently with cell-cell contact (PubMed:7798316). At podosomal sites, is predominantly localized in the ring structure surrounding the actin core (PubMed:20930113). {ECO:0000269|PubMed:20930113, ECO:0000269|PubMed:7798316}.


uniprotID: Q7Z3T8
geneSymbol: ZFYVE16
reactome: R-HSA-201451;
pdb: 3T7L;5MK0;
name: Zinc finger FYVE domain-containing protein 16 (Endofin) (Endosome-associated FYVE domain protein)
length: 1539
go: ENSG00000039319;
snps: rs6893297 rs2544600 rs752702732 rs259028 rs249038 rs16877836
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; intracellular membrane-bounded organelle [GO:0043231]; 1-phosphatidylinositol binding [GO:0005545]; metal ion binding [GO:0046872]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; protein transporter activity [GO:0008565]; BMP signaling pathway [GO:0030509]; endosomal transport [GO:0016197]; protein targeting to lysosome [GO:0006622]; regulation of endocytosis [GO:0030100]; signal transduction [GO:0007165]; vesicle organization [GO:0016050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z3T8-1; Sequence=Displayed; Name=2; IsoId=Q7Z3T8-3; Sequence=VSP_011019, VSP_011020; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11546807}. Early endosome membrane {ECO:0000269|PubMed:11546807}; Peripheral membrane protein {ECO:0000269|PubMed:11546807}. Note=Localized to early endosomes. Membrane-associated, probably via its association with phosphatidylinositol 3-phosphate (PI3P).


uniprotID: Q96DT7
geneSymbol: ZBTB10
name: Zinc finger and BTB domain-containing protein 10 (Zinc finger protein RIN ZF)
length: 871
go: ENSG00000205189;
opentargets: nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]
snps: rs591989 rs593747
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96DT7-1; Sequence=Displayed; Name=2; IsoId=Q96DT7-2; Sequence=VSP_040319; Name=3; IsoId=Q96DT7-3; Sequence=VSP_040317; Name=4; IsoId=Q96DT7-4; Sequence=VSP_040316, VSP_040318; 


uniprotID: Q6WRX3
geneSymbol: ZYG11A
name: Protein zyg-11 homolog A
length: 759
go: ENSG00000203995;
sequence:

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; ubiquitin-protein transferase activity [GO:0004842]; regulation of ubiquitin-protein transferase activity [GO:0051438]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6WRX3-1; Sequence=Displayed; Name=2; IsoId=Q6WRX3-2; Sequence=VSP_028223; 


uniprotID: O43361
geneSymbol: ZNF749
reactome: R-HSA-212436;
name: Zinc finger protein 749
length: 778
snps: rs12986235 rs2240038 rs7246856
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q6PEW1
geneSymbol: ZCCHC12
name: Zinc finger CCHC domain-containing protein 12 (Smad-interacting zinc finger protein 1)
length: 402
go: ENSG00000174460;
snps: rs35356061 rs17854957 rs17853670 rs140976011
sequence:

opentargets:
nuclear speck [GO:0016607]; nuclear receptor transcription coactivator activity [GO:0030374]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]; BMP signaling pathway [GO:0030509]


uniprotID: Q86UZ6
geneSymbol: ZBTB46
length: 589
go: ENSG00000130584;
snps: rs2281929
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Zinc finger and BTB domain-containing protein 46 (BTB-ZF protein expressed in effector lymphocytes) (BZEL) (BTB/POZ domain-containing protein 4) (Zinc finger protein 340)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; negative regulation of dendritic cell differentiation [GO:2001199]; negative regulation of granulocyte differentiation [GO:0030853]; negative regulation of macrophage differentiation [GO:0045650]; negative regulation of monocyte differentiation [GO:0045656]; positive regulation of dendritic cell differentiation [GO:2001200]


uniprotID: Q9H582
geneSymbol: ZNF644
name: Zinc finger protein 644 (Zinc finger motif enhancer-binding protein 2) (Zep-2)
length: 1327
go: ENSG00000122482;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

snps:
rs143932357 rs774685437 rs149597385 rs754440728 rs17131242 rs146936371 rs387907109 rs201546602 rs908368905 rs12117237 rs10922938 rs1050960158 rs193167060 rs140271599 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H582-1; Sequence=Displayed; Name=2; IsoId=Q9H582-2; Sequence=VSP_012158, VSP_012159; Name=3; IsoId=Q9H582-3; Sequence=VSP_015855, VSP_015856; 


uniprotID: B4DXR9
geneSymbol: ZNF732
reactome: R-HSA-212436;
name: Zinc finger protein 732
length: 585
go: ENSG00000186777;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: P0CB33
geneSymbol: ZNF735
reactome: R-HSA-212436;
name: Putative zinc finger protein 735 (Zinc finger protein 735 pseudogene)
length: 412
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q8TBF4
geneSymbol: ZCRB1
reactome: R-HSA-72165;
pdb: 2E5H;
length: 217
go: ENSG00000139168;
snps: rs17852093
name:
Zinc finger CCHC-type and RNA-binding motif-containing protein 1 (U11/U12 small nuclear ribonucleoprotein 31 kDa protein) (U11/U12 snRNP 31 kDa protein) (U11/U12-31K)

sequence:

opentargets:
nucleoplasm [GO:0005654]; U12-type spliceosomal complex [GO:0005689]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:16959469}.


uniprotID: Q9P2J8
geneSymbol: ZNF624
reactome: R-HSA-212436;
name: Zinc finger protein 624
length: 865
go: ENSG00000197566;
snps: rs8065506
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2J8-1; Sequence=Displayed; Name=2; IsoId=Q9P2J8-2; Sequence=VSP_037538; 


uniprotID: Q15776
geneSymbol: ZKSCAN8
reactome: R-HSA-212436;
name: Zinc finger protein with KRAB and SCAN domains 8 (LD5-1) (Zinc finger protein 192)
length: 578
go: ENSG00000198315;
snps: rs62620225
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15776-1; Sequence=Displayed; Name=2; IsoId=Q15776-2; Sequence=VSP_056437, VSP_056438; Note=No experimental confirmation available.; 


uniprotID: O95625
geneSymbol: ZBTB11
name: Zinc finger and BTB domain-containing protein 11
length: 1053
go: ENSG00000066422;
snps: rs3749323 rs33957144
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]


uniprotID: Q9UBW7
geneSymbol: ZMYM2
reactome: R-HSA-1839117;R-HSA-5655302;
length: 1377
go: ENSG00000121741;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Zinc finger MYM-type protein 2 (Fused in myeloproliferative disorders protein) (Rearranged in atypical myeloproliferative disorder protein) (Zinc finger protein 198)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; PML body [GO:0016605]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein tyrosine kinase activity [GO:0004713]; ubiquitin conjugating enzyme binding [GO:0031624]; zinc ion binding [GO:0008270]; cytoskeleton organization [GO:0007010]; regulation of cell morphogenesis [GO:0022604]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBW7-1; Sequence=Displayed; Name=2; IsoId=Q9UBW7-2; Sequence=VSP_039065, VSP_039066, VSP_039067; 


uniprotID: P17023
geneSymbol: ZNF19
reactome: R-HSA-212436;
name: Zinc finger protein 19 (Zinc finger protein KOX12)
length: 458
go: ENSG00000157429;
snps: rs8050871 rs10500557
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P17023-1; Sequence=Displayed; Name=2; IsoId=P17023-2; Sequence=VSP_036733; 


uniprotID: P17024
geneSymbol: ZNF20
reactome: R-HSA-212436;
name: Zinc finger protein 20 (Zinc finger protein KOX13)
length: 532
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q68DK2
geneSymbol: ZFYVE26
length: 2539
snps: rs34059852 rs17192170 rs35471427 rs7156206 rs3742885 rs3742884 rs2235967 rs3742883 rs34373049
name:
Zinc finger FYVE domain-containing protein 26 (FYVE domain-containing centrosomal protein) (FYVE-CENT) (Spastizin)

sequence:

opentargets:
centrosome [GO:0005813]; lysosomal membrane [GO:0005765]; midbody [GO:0030496]; metal ion binding [GO:0046872]; phosphatidylinositol-3-phosphate binding [GO:0032266]; double-strand break repair via homologous recombination [GO:0000724]; mitotic cytokinesis [GO:0000281]; regulation of cytokinesis [GO:0032465]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q68DK2-1; Sequence=Displayed; Name=2; IsoId=Q68DK2-2; Sequence=VSP_030339; Note=No experimental confirmation available.; Name=4; IsoId=Q68DK2-4; Sequence=VSP_041049, VSP_041050; Note=No experimental confirmation available.; Name=3; IsoId=Q68DK2-3; Sequence=VSP_030338, VSP_030340, VSP_030341; Note=No experimental confirmation available.; Name=5; IsoId=Q68DK2-5; Sequence=VSP_058963, VSP_058964; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20208530}. Midbody {ECO:0000269|PubMed:20208530}. Note=Localizes to the centrosome during all stages of the cell cycle. Recruited to the midbody during cytokinesis by KIF13A.


uniprotID: Q8TCW7
geneSymbol: ZPLD1
length: 415
go: ENSG00000170044;
snps: rs6784362 rs6784389 rs12054046
name:
Zona pellucida-like domain-containing protein 1 (ZP domain-containing protein 1) (Cupulin) [Cleaved into: Zona pellucida-like domain-containing protein 1, secreted form]

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TCW7-1; Sequence=Displayed; Name=2; IsoId=Q8TCW7-2; Sequence=VSP_037072; 

location:
SUBCELLULAR LOCATION: Zona pellucida-like domain-containing protein 1: Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:C0H9B6}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Zona pellucida-like domain-containing protein 1, secreted form: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:C0H9B6}.


uniprotID: Q0D2J5
geneSymbol: ZNF763
name: Zinc finger protein 763
length: 394
go: ENSG00000197054;
snps: rs7254529 rs7254529
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q0D2J5-1; Sequence=Displayed; Name=2; IsoId=Q0D2J5-2; Sequence=VSP_039173; Note=No experimental confirmation available.; Name=3; IsoId=Q0D2J5-3; Sequence=VSP_055970; Note=No experimental confirmation available.; 


uniprotID: Q8IW36
geneSymbol: ZNF695
name: Zinc finger protein 695 (Zinc finger protein SBZF3)
length: 515
go: ENSG00000197472;
snps: rs2642973 rs2642992 rs55762230
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=Q8IW36-4; Sequence=Displayed; Name=1; IsoId=Q8IW36-1; Sequence=VSP_038548, VSP_038549; Name=2; IsoId=Q8IW36-2; Sequence=VSP_018108, VSP_018109; Name=3; IsoId=Q8IW36-3; Sequence=VSP_018106, VSP_018107; 


uniprotID: O43149
geneSymbol: ZZEF1
name: Zinc finger ZZ-type and EF-hand domain-containing protein 1
length: 2961
go: ENSG00000074755;
opentargets: calcium ion binding [GO:0005509]; zinc ion binding [GO:0008270]
snps: rs1454121 rs16953687 rs4790555 rs781852 rs781831 rs1006954 rs34357158 rs35638819 rs711177 rs781861
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43149-1; Sequence=Displayed; Name=2; IsoId=O43149-2; Sequence=VSP_042268, VSP_042269, VSP_042270; Note=Incomplete sequence. No experimental confirmation available.; Name=3; IsoId=O43149-3; Sequence=VSP_036989, VSP_025870, VSP_025871; Note=May be due to an intron retention. No experimental confirmation available.; 


uniprotID: Q9Y2P7
geneSymbol: ZNF256
reactome: R-HSA-212436;
name: Zinc finger protein 256 (Bone marrow zinc finger 3) (BMZF-3)
length: 627
go: ENSG00000152454;
snps: rs953619
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18060868}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; multicellular organism development [GO:0007275]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2P7-1; Sequence=Displayed; Name=2; IsoId=Q9Y2P7-2; Sequence=VSP_037721; 


uniprotID: Q9Y2Q1
geneSymbol: ZNF257
reactome: R-HSA-212436;
name: Zinc finger protein 257 (Bone marrow zinc finger 4) (BMZF-4)
length: 563
go: ENSG00000197134;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; zinc ion binding [GO:0008270]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y2Q1-1; Sequence=Displayed; Name=2; IsoId=Q9Y2Q1-2; Sequence=VSP_040860; Name=3; IsoId=Q9Y2Q1-3; Sequence=VSP_040858; Name=4; IsoId=Q9Y2Q1-4; Sequence=VSP_040859; 


uniprotID: Q3ZCT1
geneSymbol: ZNF260
name: Zinc finger protein 260 (Zfp-260)
length: 412
go: ENSG00000254004;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16166646}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; multicellular organism development [GO:0007275]


uniprotID: O60290
geneSymbol: ZNF862
name: Zinc finger protein 862
length: 1169
go: ENSG00000106479;
snps: rs3735328
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; protein dimerization activity [GO:0046983]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60290-1; Sequence=Displayed; Name=2; IsoId=O60290-2; Sequence=VSP_031702, VSP_031703; Note=No experimental confirmation available.; 


uniprotID: Q8N859
geneSymbol: ZNF713
reactome: R-HSA-212436;
name: Zinc finger protein 713
length: 430
go: ENSG00000178665;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: P51814
geneSymbol: ZNF41
reactome: R-HSA-212436;
name: Zinc finger protein 41
length: 821
go: ENSG00000147124;
snps: rs104894955 rs17147624 rs2498170
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P51814-1; Sequence=Displayed; Name=2; IsoId=P51814-2; Sequence=VSP_006883; Name=3; IsoId=P51814-3; Sequence=VSP_006884; Name=4; IsoId=P51814-4; Sequence=VSP_006887; Name=5; IsoId=P51814-5; Sequence=VSP_006886; Name=6; IsoId=P51814-6; Sequence=VSP_006885; Name=7; IsoId=P51814-7; Sequence=VSP_006883, VSP_006888; Name=8; IsoId=P51814-8; Sequence=VSP_006885, VSP_006888; 


uniprotID: Q504Y3
geneSymbol: ZCWPW2
pdb: 4O62;4Z0O;4Z0R;
name: Zinc finger CW-type PWWP domain protein 2
length: 356
go: ENSG00000206559;
opentargets: zinc ion binding [GO:0008270]
snps: rs1563656
sequence:


uniprotID: Q86XU0
geneSymbol: ZNF677
reactome: R-HSA-212436;
name: Zinc finger protein 677
length: 584
go: ENSG00000197928;
snps: rs11881131 rs10425706
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q96SQ5
geneSymbol: ZNF587
reactome: R-HSA-212436;
name: Zinc finger protein 587
length: 575
go: ENSG00000198466;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96SQ5-1; Sequence=Displayed; Name=2; IsoId=Q96SQ5-2; Sequence=VSP_046842; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q12901
geneSymbol: ZNF155
reactome: R-HSA-212436;
name: Zinc finger protein 155
length: 538
snps: rs398235 rs58537897 rs448921 rs2302411 rs1345352474
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12901-1; Sequence=Displayed; Name=2; IsoId=Q12901-2; Sequence=VSP_047207; Note=No experimental confirmation available.; 


