# annotation

uniprotID: Q00325
geneSymbol: SLC25A3
length: 362
go: ENSG00000075415;
snps: rs104894375
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
name:
Phosphate carrier protein, mitochondrial (Phosphate transport protein) (PTP) (Solute carrier family 25 member 3)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of mitochondrial inner membrane [GO:0031305]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; inorganic phosphate transmembrane transporter activity [GO:0005315]; phosphate:proton symporter activity [GO:0015317]; protein-containing complex binding [GO:0044877]; phosphate ion transmembrane transport [GO:0035435]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q00325-1; Sequence=Displayed; Name=B; IsoId=Q00325-2; Sequence=VSP_003269; 


uniprotID: O14733
geneSymbol: MAP2K7
reactome: R-HSA-2559580;R-HSA-2871796;R-HSA-450321;R-HSA-5210891;
pdb: 2DYL;3WZU;4UX9;5B2K;5B2L;5B2M;5Y8U;5Y90;
length: 419
go: ENSG00000076984;
snps: rs56316660 rs56106612 rs55800262 rs1053566
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm {ECO:0000250}.
name:
Dual specificity mitogen-activated protein kinase kinase 7 (MAP kinase kinase 7) (MAPKK 7) (EC 2.7.12.2) (JNK-activating kinase 2) (MAPK/ERK kinase 7) (MEK 7) (Stress-activated protein kinase kinase 4) (SAPK kinase 4) (SAPKK-4) (SAPKK4) (c-Jun N-terminal kinase kinase 2) (JNK kinase 2) (JNKK 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; JUN kinase kinase activity [GO:0008545]; magnesium ion binding [GO:0000287]; MAP kinase kinase activity [GO:0004708]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; protein serine/threonine kinase activity [GO:0004674]; protein tyrosine kinase activity [GO:0004713]; activation of JUN kinase activity [GO:0007257]; activation of MAPK activity [GO:0000187]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; response to heat [GO:0009408]; response to osmotic stress [GO:0006970]; response to tumor necrosis factor [GO:0034612]; response to UV [GO:0009411]; signal transduction [GO:0007165]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated MAPK cascade [GO:0051403]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=A; IsoId=O14733-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=O14733-2; Sequence=VSP_004883; Note=May be due to intron retention.; Name=3; Synonyms=gamma1; IsoId=O14733-3; Sequence=VSP_022309; Name=4; IsoId=O14733-4; Sequence=VSP_022310; Note=No experimental confirmation available.; 


uniprotID: P61601
geneSymbol: NCALD
reactome: R-HSA-451308;
name: Neurocalcin-delta
length: 193
go: ENSG00000104490;
sequence:
MGKQNSKLRPEVMQDLLESTDFTEHEIQEWYKGFLRDCPSGHLSMEEFKKIYGNFFPYGDASKFAEHVFRTFDANGDGTIDFREFIIALSVTSRGKLEQKLKWAFSMYDLDGNGYISKAEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNRDGKLSLEEFIRGAKSDPSIVRLLQCDPSSAGQF

opentargets:
clathrin coat of trans-Golgi network vesicle [GO:0030130]; cytosol [GO:0005829]; intracellular [GO:0005622]; actin binding [GO:0003779]; alpha-tubulin binding [GO:0043014]; calcium ion binding [GO:0005509]; clathrin binding [GO:0030276]; ligand-gated ion channel activity [GO:0015276]; tubulin binding [GO:0015631]; calcium-mediated signaling [GO:0019722]; regulation of systemic arterial blood pressure [GO:0003073]; vesicle-mediated transport [GO:0016192]


uniprotID: Q96AM1
geneSymbol: MRGPRF
length: 343
go: ENSG00000172935;
snps: rs11544721
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Mas-related G-protein coupled receptor member F (Mas-related gene F protein) (G-protein coupled receptor 140) (G-protein coupled receptor 168)

sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: O15438
geneSymbol: ABCC3
reactome: R-HSA-159418;R-HSA-382556;
length: 1527
go: ENSG00000108846;
snps: rs11568609 rs11568605 rs11568593 rs11568591 rs11568590 rs45461799
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Canalicular multispecific organic anion transporter 2 (ATP-binding cassette sub-family C member 3) (Multi-specific organic anion transporter D) (MOAT-D) (Multidrug resistance-associated protein 3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; vacuolar membrane [GO:0005774]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; bile acid-exporting ATPase activity [GO:0015432]; organic anion transmembrane transporter activity [GO:0008514]; bile acid and bile salt transport [GO:0015721]; canalicular bile acid transport [GO:0015722]; transmembrane transport [GO:0055085]

drug:
DB02659;DB00515;DB00257;DB00286;DB00091;DB00997;DB00773;DB00973;DB00544;DB00158;DB08884;DB00143;DB01016;DB00328;DB00709;DB00563;DB01011;DB01115;DB00338;DB01174;DB01032;DB01045;DB01138;DB04348;DB00661;DB00541;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=MRP3; IsoId=O15438-1; Sequence=Displayed; Name=2; Synonyms=MRP3A; IsoId=O15438-2; Sequence=VSP_000042; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=MRP3B; IsoId=O15438-3; Sequence=VSP_000040, VSP_000041; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=MRP3S1; IsoId=O15438-4; Sequence=VSP_043864; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=5; IsoId=O15438-5; Sequence=VSP_039041, VSP_039042; Note=No experimental confirmation available.; 


uniprotID: O95255
geneSymbol: ABCC6
reactome: R-HSA-382556;R-HSA-5690338;
pdb: 6BZS;
length: 1503
go: ENSG00000091262;
drug: DB00515;DB00970;DB00694;DB00997;DB00773;DB00328;DB01032;DB01138;DB00444;DB00570;
name:
Multidrug resistance-associated protein 6 (ATP-binding cassette sub-family C member 6) (Anthracycline resistance-associated protein) (Multi-specific organic anion transporter E) (MOAT-E)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; vacuolar membrane [GO:0005774]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; transporter activity [GO:0005215]; response to drug [GO:0042493]; transmembrane transport [GO:0055085]; visual perception [GO:0007601]

snps:
rs72657696 rs777566074 rs557180313 rs2856597 rs957828732 rs3853814 rs72653753 rs2606921 rs72657697 rs72657698 rs4780606 rs78678589 rs72657699 rs72653758 rs72653759 rs72653760 rs72653761 rs72653762 rs72653763 rs72653764 rs9930886 rs768869262 rs772434460 rs72653766 rs67996819 rs72653767 rs72653769 rs72653770 rs59157279 rs72653772 rs72653773 rs72653774 rs66864704 rs537233133 rs72653776 rs72653777 rs768271196 rs12931472 rs8058694 rs72653780 rs4341770 rs67470842 rs72653782 rs72653783 rs72653784 rs58073789 rs72653785 rs59593133 rs72653786 rs72653787 rs72653788 rs67561842 rs72653789 rs72653790 rs72653794 rs72653793 rs72653795 rs72653796 rs72653797 rs6416668 rs72653800 rs72653801 rs61340537 rs72657689 rs72657700 rs72657692 rs72657694 rs41278174 rs60707953 rs63749794 rs63750427 rs63750987 rs63750987 rs63750459 rs63750473 rs60791294 rs60791294 rs28939701 rs63750146 rs63750457 rs63750607 rs63751215 rs63751001 rs63750125 rs63750402 rs63749796 rs72657701 rs2238472 rs63751325 rs63750494 rs63749856 rs63750410 rs63751086 rs63750759 rs63749823 rs63750414 rs63750414 rs28939702 rs63750622 rs63750622 rs63751112 rs63751111 rs63750018 rs63750428 rs58695352 rs63751241 rs387906859 rs63750295 rs72547524 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95255-1; Sequence=Displayed; Name=2; Synonyms=URG7; IsoId=O95255-2; Sequence=VSP_047315, VSP_047316; Name=3; Synonyms=Delta19Delta24; IsoId=O95255-3; Sequence=VSP_057077, VSP_057078; Note=May function as a a half transporter.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Basolateral cell membrane {ECO:0000269|PubMed:12901863, ECO:0000269|PubMed:23625951}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23912081}; Single-pass membrane protein {ECO:0000255}.


uniprotID: P33527
geneSymbol: ABCC1
reactome: R-HSA-196741;R-HSA-2142691;R-HSA-382556;
pdb: 2CBZ;4C3Z;
length: 1531
go: ENSG00000103222;
name:
Multidrug resistance-associated protein 1 (ATP-binding cassette sub-family C member 1) (Leukotriene C(4) transporter) (LTC4 transporter)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; vacuolar membrane [GO:0005774]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; cobalamin-transporting ATPase activity [GO:0015420]; glutathione transmembrane transporter activity [GO:0034634]; phospholipid-translocating ATPase activity [GO:0004012]; sphingolipid-translocating ATPase activity [GO:0046623]; transporter activity [GO:0005215]; xenobiotic transmembrane transporting ATPase activity [GO:0008559]; cell chemotaxis [GO:0060326]; cobalamin metabolic process [GO:0009235]; drug transmembrane transport [GO:0006855]; glutathione transmembrane transport [GO:0034775]; leukotriene metabolic process [GO:0006691]; phospholipid translocation [GO:0045332]; response to drug [GO:0042493]; sphingolipid translocation [GO:0099039]; transmembrane transport [GO:0055085]; xenobiotic transport [GO:0042908]

drug:
DB05812;DB00345;DB00701;DB01072;DB01076;DB04851;DB02659;DB01394;DB00286;DB00091;DB00970;DB00694;DB00586;DB01248;DB00997;DB00445;DB00773;DB00693;DB01645;DB00143;DB01016;DB00365;DB01050;DB01177;DB00224;DB00328;DB00762;DB00602;DB00709;DB00563;DB00834;DB01204;DB02375;DB03467;DB01165;DB01229;DB01174;DB01032;DB00396;DB04216;DB03825;DB01045;DB00503;DB01098;DB01232;DB06335;DB01138;DB04348;DB09161;DB05294;DB08881;DB00661;DB00570;DB00541;DB00399;

snps:
rs41395947 rs41494447 rs60782127 rs112282109 rs45511401 rs4148356 rs45517537 rs13337489 rs41410450 rs28706727 rs369410659 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=Allexons; IsoId=P33527-1; Sequence=Displayed; Name=2; Synonyms=Delexon-17; IsoId=P33527-2; Sequence=VSP_000037; Name=3; Synonyms=Delexon-18; IsoId=P33527-3; Sequence=VSP_000038; Name=4; Synonyms=Delexon-30; IsoId=P33527-4; Sequence=VSP_000039; Name=5; Synonyms=Delexon-17-18; IsoId=P33527-5; Sequence=VSP_000037, VSP_000038; Name=6; Synonyms=Delexon-17-30; IsoId=P33527-6; Sequence=VSP_000037, VSP_000039; Name=7; Synonyms=Delexon-18-30; IsoId=P33527-7; Sequence=VSP_000038, VSP_000039; Name=8; Synonyms=Delexon-17-18-30; IsoId=P33527-8; Sequence=VSP_000037, VSP_000038, VSP_000039; Name=9; IsoId=P33527-9; Sequence=VSP_017014; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16230346}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441, ECO:0000269|PubMed:16230346}.


uniprotID: Q9H867
geneSymbol: VCPKMT
reactome: R-HSA-8876725;
pdb: 4LG1;
length: 229
go: ENSG00000100483;
snps: rs11157729
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23349634}.
name:
Protein-lysine methyltransferase METTL21D (EC 2.1.1.-) (Methyltransferase-like protein 21D) (VCP lysine methyltransferase) (VCP-KMT) (Valosin-containing protein lysine methyltransferase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; protein-containing complex [GO:0032991]; ATPase binding [GO:0051117]; protein-lysine N-methyltransferase activity [GO:0016279]; negative regulation of ATPase activity [GO:0032780]; peptidyl-lysine methylation [GO:0018022]; peptidyl-lysine trimethylation [GO:0018023]; protein methylation [GO:0006479]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=4; IsoId=Q9H867-4; Sequence=Displayed; Name=1; IsoId=Q9H867-1; Sequence=VSP_026586, VSP_026587; Name=2; IsoId=Q9H867-2; Sequence=VSP_008814, VSP_008816; Note=No experimental confirmation available.; Name=3; IsoId=Q9H867-3; Sequence=VSP_008815; Note=No experimental confirmation available.; Name=5; IsoId=Q9H867-5; Sequence=VSP_043258; Note=No experimental confirmation available.; 


uniprotID: P21757
geneSymbol: MSR1
reactome: R-HSA-3000480;
length: 451
go: ENSG00000038945;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
name:
Macrophage scavenger receptor types I and II (Macrophage acetylated LDL receptor I and II) (Scavenger receptor class A member 1) (CD antigen CD204)

sequence:

opentargets:
collagen trimer [GO:0005581]; endocytic vesicle membrane [GO:0030666]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; low-density lipoprotein particle [GO:0034362]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; low-density lipoprotein particle binding [GO:0030169]; scavenger receptor activity [GO:0005044]; amyloid-beta clearance [GO:0097242]; cholesterol transport [GO:0030301]; lipoprotein transport [GO:0042953]; negative regulation of gene expression [GO:0010629]; phagocytosis, engulfment [GO:0006911]; plasma lipoprotein particle clearance [GO:0034381]; positive regulation of cholesterol storage [GO:0010886]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; receptor-mediated endocytosis [GO:0006898]

snps:
rs35175081 rs749666450 rs145597376 rs117359034 rs72552387 rs387906645 rs13306543 rs2229388 rs776370129 rs138749399 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=I; IsoId=P21757-1; Sequence=Displayed; Name=II; IsoId=P21757-2; Sequence=VSP_006229, VSP_006230; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=III; IsoId=P21757-3; Sequence=VSP_036842; 


uniprotID: Q9NYP9
geneSymbol: MIS18A
reactome: R-HSA-606279;
name: Protein Mis18-alpha (FAPP1-associated protein 1)
length: 233
go: ENSG00000159055;
sequence:

opentargets:
chromatin [GO:0000785]; chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; cell cycle [GO:0007049]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]; chromosome segregation [GO:0007059]; regulation of DNA methylation [GO:0044030]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17199038}. Chromosome {ECO:0000269|PubMed:17199038}. Chromosome, centromere {ECO:0000269|PubMed:17199038}. Note=Associated with centromeres in interphase cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associated with chromatin.


uniprotID: Q4G0N4
geneSymbol: NADK2
reactome: R-HSA-196807;
length: 442
go: ENSG00000152620;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23212377}.
name:
NAD kinase 2, mitochondrial (EC 2.7.1.23) (Mitochondrial NAD kinase) (NAD kinase domain-containing protein 1, mitochondrial)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; NAD+ kinase activity [GO:0003951]; protein homodimerization activity [GO:0042803]; NAD metabolic process [GO:0019674]; NADP biosynthetic process [GO:0006741]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q4G0N4-1; Sequence=Displayed; Name=2; IsoId=Q4G0N4-2; Sequence=VSP_027193; Note=No experimental confirmation available.; Name=3; IsoId=Q4G0N4-3; Sequence=VSP_027192; 


uniprotID: Q8WY41
geneSymbol: NANOS1
pdb: 4CQO;
name: Nanos homolog 1 (NOS-1) (EC_Rep1a)
length: 292
go: ENSG00000188613;
snps: rs191267549 rs587777767 rs587777768
sequence:

opentargets:
cytoplasm [GO:0005737]; perinuclear region of cytoplasm [GO:0048471]; RNA binding [GO:0003723]; translation repressor activity [GO:0030371]; zinc ion binding [GO:0008270]; cell migration [GO:0016477]; cerebellar neuron development [GO:0098749]; epithelial cell migration [GO:0010631]; negative regulation of translation [GO:0017148]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; posttranscriptional regulation of gene expression [GO:0010608]; regulation of cell growth [GO:0001558]; tissue homeostasis [GO:0001894]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:12690449, ECO:0000269|PubMed:17047063, ECO:0000269|PubMed:19168546}. Cytoplasm {ECO:0000269|PubMed:12690449, ECO:0000269|PubMed:17047063, ECO:0000269|PubMed:19168546}. Note=Colocalizes with SNAPIN and PUM2 in the perinuclear region of germ cells. {ECO:0000269|PubMed:12690449, ECO:0000269|PubMed:19168546}.


uniprotID: Q96L15
geneSymbol: ART5
length: 291
go: ENSG00000167311;
snps: rs72515796
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Ecto-ADP-ribosyltransferase 5 (EC 2.4.2.31) (ADP-ribosyltransferase C2 and C3 toxin-like 5) (ARTC5) (Mono(ADP-ribosyl)transferase 5) (NAD(P)(+)--arginine ADP-ribosyltransferase 5)

sequence:

opentargets:
extracellular region [GO:0005576]; NAD(P)+-protein-arginine ADP-ribosyltransferase activity [GO:0003956]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; peptidyl-arginine ADP-ribosylation [GO:0018120]; protein ADP-ribosylation [GO:0006471]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96L15-1; Sequence=Displayed; Name=2; IsoId=Q96L15-2; Sequence=VSP_013145, VSP_013146; Note=No experimental confirmation available.; 


uniprotID: P00387
geneSymbol: CYB5R3
reactome: R-HSA-196836;R-HSA-211945;R-HSA-6798695;
pdb: 1M91;1UMK;
length: 301
go: ENSG00000100243;
drug: DB03147;DB00157;
name:
NADH-cytochrome b5 reductase 3 (B5R) (Cytochrome b5 reductase) (EC 1.6.2.2) (Diaphorase-1) [Cleaved into: NADH-cytochrome b5 reductase 3 membrane-bound form; NADH-cytochrome b5 reductase 3 soluble form]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; hemoglobin complex [GO:0005833]; lipid droplet [GO:0005811]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; ADP binding [GO:0043531]; AMP binding [GO:0016208]; cytochrome-b5 reductase activity, acting on NAD(P)H [GO:0004128]; FAD binding [GO:0071949]; NAD binding [GO:0051287]; blood circulation [GO:0008015]; cholesterol biosynthetic process [GO:0006695]; L-ascorbic acid metabolic process [GO:0019852]; neutrophil degranulation [GO:0043312]

snps:
rs121965007 rs1130706 rs121965013 rs121965009 rs1800457 rs121965006 rs121965008 rs201232518 rs121965011 rs121965015 rs121965016 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1; Synonyms=M; IsoId=P00387-1; Sequence=Displayed; Name=2; Synonyms=S; IsoId=P00387-2; Sequence=VSP_010200; Name=3; IsoId=P00387-3; Sequence=VSP_042827; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion outer membrane; Lipid-anchor; Cytoplasmic side.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Produces the soluble form found in erythrocytes.


uniprotID: P59047
geneSymbol: NLRP5
name: NACHT, LRR and PYD domains-containing protein 5 (Mater protein homolog)
length: 1200
go: ENSG00000171487;
opentargets: mitochondrion [GO:0005739]; nucleolus [GO:0005730]; ATP binding [GO:0005524]
snps: rs471979 rs34395092 rs17713875 rs16986899 rs3103057 rs12462795 rs10409555 rs36118060
sequence:

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=In the subcortical cytoplasm of early embryos from the 1-cell to the blastocyst stages. From the 2-cell stage, still detected in the subcortex, but excluded from cell-cell contact regions (By similarity). {ECO:0000250}.


uniprotID: Q8N6N6
geneSymbol: NATD1
name: Protein NATD1 (N-acetyltransferase domain-containing protein 1)
length: 113
go: ENSG00000274180;
opentargets: N-acyltransferase activity [GO:0016410]; protein acetylation [GO:0006473]
snps: rs12449311
sequence:
MAHSAAAVPLGALEQGCPIRVEHDRRRRQFTVRLNGCHDRAVLLYEYVGKRIVDLQHTEVPDAYRGRGIAKHLAKAALDFVVEEDLKAHLTCWYIQKYVKENPLPQYLERLQP


uniprotID: Q6IPT4
geneSymbol: CYB5RL
reactome: R-HSA-1237044;
name: NADH-cytochrome b5 reductase-like (EC 1.6.2.2)
length: 315
go: ENSG00000215883;
snps: rs946448
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cytochrome-b5 reductase activity, acting on NAD(P)H [GO:0004128]; bicarbonate transport [GO:0015701]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6IPT4-1; Sequence=Displayed; Name=2; IsoId=Q6IPT4-3; Sequence=VSP_033845; Note=No experimental confirmation available.; Name=3; IsoId=Q6IPT4-4; Sequence=VSP_040404; 


uniprotID: P04733
geneSymbol: MT1F
reactome: R-HSA-5661231;
name: Metallothionein-1F (MT-1F) (Metallothionein-IF) (MT-IF)
sequence: MDPNCSCAAGVSCTCAGSCKCKECKCTSCKKSCCSCCPVGCSKCAQGCVCKGASEKCSCCD
length: 61
go: ENSG00000198417;
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 zinc ion [GO:0071294]; cellular zinc ion homeostasis [GO:0006882]; detoxification of copper ion [GO:0010273]; negative regulation of growth [GO:0045926]


uniprotID: Q9UK23
geneSymbol: NAGPA
length: 515
go: ENSG00000103174;
drug: DB00141;
snps: rs755458782 rs139526942 rs7188856
name:
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (EC 3.1.4.45) (Mannose 6-phosphate-uncovering enzyme) (Phosphodiester alpha-GlcNAcase)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity [GO:0003944]; carbohydrate metabolic process [GO:0005975]; cellular protein modification process [GO:0006464]; lysosome organization [GO:0007040]; protein glycosylation [GO:0006486]; protein targeting to lysosome [GO:0006622]; secretion of lysosomal enzymes [GO:0033299]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UK23-1; Sequence=Displayed; Name=2; IsoId=Q9UK23-2; Sequence=VSP_012269; Name=3; IsoId=Q9UK23-3; Sequence=VSP_012267, VSP_012268; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:12058031}; Single-pass type I membrane protein {ECO:0000269|PubMed:12058031}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:12058031}. Note=Cis/medial Golgi.


uniprotID: Q9NX02
geneSymbol: NLRP2
length: 1062
go: ENSG00000022556;
snps: rs17699678 rs3745904 rs4306647 rs61735082 rs61735083 rs34804158 rs59779270 rs1043673
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15030775, ECO:0000269|PubMed:15456791}.
name:
NACHT, LRR and PYD domains-containing protein 2 (Nucleotide-binding site protein 1) (PYRIN domain and NACHT domain-containing protein 1) (PYRIN-containing APAF1-like protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; ATP binding [GO:0005524]; Pyrin domain binding [GO:0032090]; apoptotic process [GO:0006915]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of interleukin-1 beta secretion [GO:0050718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NX02-1; Sequence=Displayed; Name=2; IsoId=Q9NX02-2; Sequence=VSP_005522; Name=3; IsoId=Q9NX02-3; Sequence=VSP_017086; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q9NX02-4; Sequence=VSP_017085; Note=No experimental confirmation available.; Name=5; IsoId=Q9NX02-5; Sequence=VSP_044898; Note=No experimental confirmation available.; 


uniprotID: Q96MN2
geneSymbol: NLRP4
reactome: R-HSA-1606341;R-HSA-3134975;R-HSA-3270619;
pdb: 4EWI;
length: 994
go: ENSG00000160505;
snps: rs441827 rs17857373 rs17857374 rs12462372 rs17854614 rs302453
name:
NACHT, LRR and PYD domains-containing protein 4 (Cancer/testis antigen 58) (CT58) (PAAD and NACHT-containing protein 2) (PAN2) (PYRIN and NACHT-containing protein 2) (PYRIN-containing APAF1-like protein 4) (PYPAF4) (Ribonuclease inhibitor 2)

sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; inflammatory response [GO:0006954]; regulation of type I interferon production [GO:0032479]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q96MN2-1; Sequence=Displayed; Name=2; IsoId=Q96MN2-2; Sequence=VSP_044006, VSP_044007; Note=Incomplete sequence.; Name=3; IsoId=Q96MN2-3; Sequence=VSP_003916; 


uniprotID: A2RRP1
geneSymbol: NBAS
reactome: R-HSA-6811434;
name: Neuroblastoma-amplified sequence (Neuroblastoma-amplified gene protein)
length: 2371
go: ENSG00000151779;
sequence:

opentargets:
cytosol [GO:0005829]; Dsl1/NZR complex [GO:0070939]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; SNARE binding [GO:0000149]; negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:2000623]; nuclear-transcribed mRNA catabolic process [GO:0000956]; protein transport [GO:0015031]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

snps:
rs77081203 rs368085185 rs13029846 rs4668909 rs1085307944 rs368196005 rs74727069 rs140841721 rs16862653 rs74411619 rs796052121 rs35770368 rs369698072 rs6710817 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A2RRP1-1; Sequence=Displayed; Name=2; IsoId=A2RRP1-2; Sequence=VSP_026445; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20577004}. Endoplasmic reticulum {ECO:0000269|PubMed:19369418}. Endoplasmic reticulum membrane; Peripheral membrane protein {ECO:0000305}.


uniprotID: A0A0U1RRE5
geneSymbol: NBDY
name: Negative regulator of P-body association (P-body dissociating protein) (Protein NoBody)
sequence: MGDQPCASGRSTLPPGNAREAKPPKKRCLLAPRWDYPEGTPNGGSTTLPSAPPPASAGLKSHPPPPEK
length: 68
go: ENSG00000204272;
opentargets:
P-body [GO:0000932]; mRNA processing [GO:0006397]; negative regulation of cytoplasmic mRNA processing body assembly [GO:0010607]; nuclear-transcribed mRNA catabolic process [GO:0000956]

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:27918561}. Note=Localizes to P-bodies at low concentrations without dissociating them. {ECO:0000269|PubMed:27918561}.


uniprotID: Q3BBV2
geneSymbol: NBPF8
name: Putative neuroblastoma breakpoint family member 8
length: 869
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: P0DPF3
geneSymbol: NBPF9
name: Neuroblastoma breakpoint family member 9
length: 1111
go: ENSG00000269713;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0DPF3-1; Sequence=Displayed; Note=No experimental confirmation available. Derived from EST data.; Name=2; IsoId=P0DPF3-2; Sequence=VSP_059364; 


uniprotID: Q6P3W6
geneSymbol: NBPF10
name: Neuroblastoma breakpoint family member 10
length: 841
opentargets: cytoplasm [GO:0005737]; RNA binding [GO:0003723]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P3W6-1; Sequence=Displayed; Name=2; IsoId=Q6P3W6-2; Sequence=VSP_025629, VSP_025630; Note=No experimental confirmation available.; 


uniprotID: Q53F19
geneSymbol: NCBP3
name: Nuclear cap-binding protein subunit 3 (Protein ELG)
length: 620
go: ENSG00000074356;
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; RNA cap binding complex [GO:0034518]; mRNA binding [GO:0003729]; RNA 7-methylguanosine cap binding [GO:0000340]; RNA binding [GO:0003723]; 7-methylguanosine mRNA capping [GO:0006370]; defense response to virus [GO:0051607]; mRNA transport [GO:0051028]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53F19-1; Sequence=Displayed; Name=2; IsoId=Q53F19-2; Sequence=VSP_028999; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26382858}. Cytoplasm {ECO:0000269|PubMed:26382858}.


uniprotID: P59045
geneSymbol: NLRP11
length: 1033
go: ENSG00000179873;
snps: rs299163 rs59244027 rs12461110
name:
NACHT, LRR and PYD domains-containing protein 11 (Nucleotide-binding oligomerization domain protein 17) (PAAD-and NACHT domain-containing protein 10) (PYRIN-containing APAF1-like protein 6)

sequence:

opentargets:
ATP binding [GO:0005524]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen [GO:0016715]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P59045-1; Sequence=Displayed; Name=2; IsoId=P59045-2; Sequence=VSP_007068; Note=No experimental confirmation available.; Name=3; IsoId=P59045-3; Sequence=VSP_038210; 


uniprotID: Q8IZF0
geneSymbol: NALCN
reactome: R-HSA-2672351;
name: Sodium leak channel non-selective protein (CanIon) (Voltage gated channel-like protein 1)
length: 1738
go: ENSG00000102452;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cation channel activity [GO:0005261]; leak channel activity [GO:0022840]; sodium channel activity [GO:0005272]; voltage-gated ion channel activity [GO:0005244]; calcium ion transmembrane transport [GO:0070588]; ion transmembrane transport [GO:0034220]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]; regulation of resting membrane potential [GO:0060075]; sodium ion transmembrane transport [GO:0035725]

snps:
rs786203984 rs878853134 rs786203985 rs786203987 rs786203988 rs786203986 rs878853128 rs786201003 rs587777068 rs878853127 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZF0-1; Sequence=Displayed; Name=2; IsoId=Q8IZF0-2; Sequence=VSP_030190, VSP_030191; Name=3; IsoId=Q8IZF0-3; Sequence=VSP_030188, VSP_030189; 


uniprotID: Q93070
geneSymbol: ART4
reactome: R-HSA-163125;
length: 314
snps: rs28362797 rs28362798 rs28362799 rs28362800 rs11276 rs3088190
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
name:
Ecto-ADP-ribosyltransferase 4 (EC 2.4.2.31) (ADP-ribosyltransferase C2 and C3 toxin-like 4) (ARTC4) (Dombrock blood group carrier molecule) (Mono(ADP-ribosyl)transferase 4) (NAD(P)(+)--arginine ADP-ribosyltransferase 4) (CD antigen CD297)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; membrane [GO:0016020]; plasma membrane [GO:0005886]; NAD(P)+-protein-arginine ADP-ribosyltransferase activity [GO:0003956]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; arginine metabolic process [GO:0006525]; peptidyl-arginine ADP-ribosylation [GO:0018120]; protein ADP-ribosylation [GO:0006471]


uniprotID: O15442
geneSymbol: MPPED1
name: Metallophosphoesterase domain-containing protein 1 (EC 3.1.-.-) (Adult brain protein 239) (239AB)
length: 326
go: ENSG00000186732;
opentargets: hydrolase activity [GO:0016787]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15442-1; Sequence=Displayed; Name=2; IsoId=O15442-2; Sequence=VSP_056871; Note=No experimental confirmation available.; 


uniprotID: Q96JB8
geneSymbol: MPP4
length: 637
go: ENSG00000082126;
snps: rs6725443 rs11894115
name:
MAGUK p55 subfamily member 4 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein) (Discs large homolog 6)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell-cell adherens junction [GO:0005913]; cytosol [GO:0005829]; protein-containing complex [GO:0032991]; protein localization to synapse [GO:0035418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96JB8-1; Sequence=Displayed; Name=2; IsoId=Q96JB8-2; Sequence=VSP_003159, VSP_003160; Name=3; IsoId=Q96JB8-3; Sequence=VSP_003157, VSP_003158; Name=4; IsoId=Q96JB8-4; Sequence=VSP_003157, VSP_013992, VSP_013993; Name=5; IsoId=Q96JB8-5; Sequence=VSP_013991; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15914641}. Note=Detected at the outer limiting membrane (OLM) and in the outer plexiform layer (OPL) of the retina. At the OLM, detected apical to the adherens junction (AJ).


uniprotID: Q9Y6F6
geneSymbol: MRVI1
reactome: R-HSA-418457;
length: 904
snps: rs4909945 rs34302310 rs2162044 rs35857561 rs34398944
name:
Protein MRVI1 (Inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate) (JAW1-related protein MRVI1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; platelet dense tubular network membrane [GO:0031095]; sarcoplasmic reticulum [GO:0016529]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=9; IsoId=Q9Y6F6-9; Sequence=Displayed; Name=2; Synonyms=MRVI1A; IsoId=Q9Y6F6-2; Sequence=VSP_028342, VSP_059441; Name=3; Synonyms=MRVI1B; IsoId=Q9Y6F6-3; Sequence=VSP_028341, VSP_059441; Name=4; IsoId=Q9Y6F6-4; Sequence=VSP_059442; Note=No experimental confirmation available.; Name=5; IsoId=Q9Y6F6-5; Sequence=VSP_028341, VSP_059442; Note=No experimental confirmation available.; Name=6; IsoId=Q9Y6F6-6; Sequence=VSP_040452; Name=7; IsoId=Q9Y6F6-7; Sequence=VSP_046361, VSP_059442; Name=8; IsoId=Q9Y6F6-8; Sequence=VSP_046361, VSP_059442, VSP_046362, VSP_046363; Name=1; IsoId=Q9Y6F6-1; Sequence=VSP_059440; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Sarcoplasmic reticulum {ECO:0000250}. Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: P28360
geneSymbol: MSX1
name: Homeobox protein MSX-1 (Homeobox protein Hox-7) (Msh homeobox 1-like protein)
length: 303
go: ENSG00000163132;
snps: rs121913130 rs28928890 rs759548721 rs28933081 rs150284621 rs121913129
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; 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]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; enhancer binding [GO:0035326]; p53 binding [GO:0002039]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; activation of meiosis [GO:0090427]; anterior/posterior pattern specification [GO:0009952]; BMP signaling pathway involved in heart development [GO:0061312]; bone morphogenesis [GO:0060349]; cartilage morphogenesis [GO:0060536]; cell morphogenesis [GO:0000902]; cellular response to nicotine [GO:0071316]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; embryonic nail plate morphogenesis [GO:0035880]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; face morphogenesis [GO:0060325]; in utero embryonic development [GO:0001701]; mammary gland epithelium development [GO:0061180]; mesenchymal cell proliferation [GO:0010463]; midbrain development [GO:0030901]; middle ear morphogenesis [GO:0042474]; muscle organ development [GO:0007517]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of striated muscle cell differentiation [GO:0051154]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; odontogenesis of dentin-containing tooth [GO:0042475]; pituitary gland development [GO:0021983]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator [GO:1902255]; positive regulation of mesenchymal cell apoptotic process [GO:2001055]; protein localization to nucleus [GO:0034504]; protein stabilization [GO:0050821]; regulation of odontogenesis [GO:0042481]; roof of mouth development [GO:0060021]; signal transduction involved in regulation of gene expression [GO:0023019]; stem cell differentiation [GO:0048863]


uniprotID: E9PKD4
geneSymbol: NPIPA5
name: Nuclear pore complex-interacting protein family member A5
length: 350
opentargets: nucleoplasm [GO:0005654]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=E9PKD4-1; Sequence=Displayed; Name=2; IsoId=E9PKD4-2; Sequence=VSP_056345, VSP_056346; Note=No experimental confirmation available.; 


uniprotID: Q92617
geneSymbol: NPIPB3
length: 1050
go: ENSG00000169246;ENSG00000243716;
opentargets: integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Nuclear pore complex-interacting protein family member B3 (Nuclear pore complex-interacting protein-like 3) (Protein pps22-1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q92617-1; Sequence=Displayed; Name=2; IsoId=Q92617-2; Sequence=VSP_021837; Note=No experimental confirmation available.; Name=3; IsoId=Q92617-3; Sequence=VSP_021833, VSP_021838; Note=No experimental confirmation available.; Name=4; IsoId=Q92617-4; Sequence=VSP_021832, VSP_021836; Name=5; IsoId=Q92617-5; Sequence=VSP_021834, VSP_021835, VSP_021839; Note=No experimental confirmation available.; Name=6; IsoId=Q92617-6; Sequence=VSP_033367; Note=No experimental confirmation available.; 


uniprotID: Q9UHQ1
geneSymbol: NARF
name: Nuclear prelamin A recognition factor (Iron-only hydrogenase-like protein 2) (IOP2)
length: 456
go: ENSG00000141562;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10514485}.
sequence:

opentargets:
lamin filament [GO:0005638]; nuclear lamina [GO:0005652]; nuclear lumen [GO:0031981]; nucleolus [GO:0005730]; nucleus [GO:0005634]; lamin binding [GO:0005521]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UHQ1-1; Sequence=Displayed; Name=2; IsoId=Q9UHQ1-2; Sequence=VSP_025690; Name=3; IsoId=Q9UHQ1-3; Sequence=VSP_025691; Name=4; IsoId=Q9UHQ1-4; Sequence=VSP_046371; Note=No experimental confirmation available.; 


uniprotID: Q86W25
geneSymbol: NLRP13
length: 1043
go: ENSG00000173572;
opentargets: ATP binding [GO:0005524]
snps: rs303997 rs17711239
name:
NACHT, LRR and PYD domains-containing protein 13 (Nucleotide-binding oligomerization domain protein 14)

sequence:


uniprotID: Q13201
geneSymbol: MMRN1
reactome: R-HSA-114608;
length: 1228
go: ENSG00000138722;
snps: rs1442138 rs3756065 rs12646270 rs17855885
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Multimerin-1 (EMILIN-4) (Elastin microfibril interface located protein 4) (Elastin microfibril interfacer 4) (Endothelial cell multimerin) [Cleaved into: Platelet glycoprotein Ia*; 155 kDa platelet multimerin (p-155) (p155)]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; platelet alpha granule lumen [GO:0031093]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; blood coagulation [GO:0007596]; cell adhesion [GO:0007155]; platelet degranulation [GO:0002576]; positive regulation of cell-substrate adhesion [GO:0010811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13201-1; Sequence=Displayed; Name=2; IsoId=Q13201-2; Sequence=VSP_036610, VSP_036611; Note=No experimental confirmation available.; 


uniprotID: Q9BU76
geneSymbol: MMTAG2
reactome: R-HSA-6798695;
name: Multiple myeloma tumor-associated protein 2 (hMMTAG2)
length: 263
go: ENSG00000143793;
sequence:

opentargets:
extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; secretory granule lumen [GO:0034774]; RNA binding [GO:0003723]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BU76-1; Sequence=Displayed; Name=2; IsoId=Q9BU76-2; Sequence=VSP_015129, VSP_015130; Note=No experimental confirmation available.; Name=3; IsoId=Q9BU76-3; Sequence=VSP_015131, VSP_015132; Note=No experimental confirmation available.; Name=4; IsoId=Q9BU76-4; Sequence=VSP_015133, VSP_015134; Note=No experimental confirmation available.; 


uniprotID: Q10571
geneSymbol: MN1
name: Transcriptional activator MN1 (Probable tumor suppressor protein MN1)
length: 1320
go: ENSG00000169184;
snps: rs45589338
sequence:

opentargets:
intramembranous ossification [GO:0001957]; multicellular organism development [GO:0007275]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q9NPA2
geneSymbol: MMP25
reactome: R-HSA-1592389;R-HSA-6798695;
length: 562
go: ENSG00000008516;
drug: DB00786;
name:
Matrix metalloproteinase-25 (MMP-25) (EC 3.4.24.-) (Leukolysin) (Membrane-type matrix metalloproteinase 6) (MT-MMP 6) (MTMMP6) (Membrane-type-6 matrix metalloproteinase) (MT6-MMP) (MT6MMP)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular matrix [GO:0031012]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; hard palate development [GO:0060022]; inflammatory response [GO:0006954]; neutrophil degranulation [GO:0043312]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Secreted, extracellular space, extracellular matrix.


uniprotID: O95544
geneSymbol: NADK
reactome: R-HSA-196807;
pdb: 3PFN;
name: NAD kinase (EC 2.7.1.23) (Poly(P)/ATP NAD kinase)
length: 446
go: ENSG00000008130;
snps: rs4751
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; NAD+ kinase activity [GO:0003951]; ATP metabolic process [GO:0046034]; NAD metabolic process [GO:0019674]; NADP biosynthetic process [GO:0006741]; phosphorylation [GO:0016310]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95544-1; Sequence=Displayed; Name=2; IsoId=O95544-2; Sequence=VSP_047313, VSP_047314; Name=3; IsoId=O95544-3; Sequence=VSP_047312; 


uniprotID: Q9H239
geneSymbol: MMP28
name: Matrix metalloproteinase-28 (MMP-28) (EC 3.4.24.-) (Epilysin)
length: 520
go: ENSG00000271447;
drug: DB00786;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular matrix [GO:0031012]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; negative regulation of macrophage chemotaxis [GO:0010760]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H239-1; Sequence=Displayed; Name=2; IsoId=Q9H239-2; Sequence=VSP_040552, VSP_040553; 


uniprotID: Q58DX5
geneSymbol: NAALADL2
name: Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 (NAALADase L2)
length: 795
go: ENSG00000177694;
snps: rs9823911 rs9836841 rs4371530 rs6802937 rs9866564 rs9826737
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q58DX5-1; Sequence=Displayed; Name=2; IsoId=Q58DX5-2; Sequence=VSP_030676, VSP_030677, VSP_030678; 


uniprotID: Q96HR8
geneSymbol: NAF1
pdb: 2EQN;
name: H/ACA ribonucleoprotein complex non-core subunit NAF1 (hNAF1)
length: 494
go: ENSG00000145414;
snps: rs12331663 rs4691896
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; small nucleolar ribonucleoprotein complex [GO:0005732]; RNA binding [GO:0003723]; telomerase RNA binding [GO:0070034]; box H/ACA snoRNP assembly [GO:0000493]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; positive regulation of telomere maintenance via telomerase [GO:0032212]; positive regulation of telomere maintenance via telomere lengthening [GO:1904358]; ribosome biogenesis [GO:0042254]; RNA stabilization [GO:0043489]; snoRNA guided rRNA pseudouridine synthesis [GO:0000454]; telomerase holoenzyme complex assembly [GO:1905323]; telomerase RNA stabilization [GO:0090669]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HR8-1; Sequence=Displayed; Name=2; IsoId=Q96HR8-2; Sequence=VSP_046217, VSP_046218; Note=No experimental confirmation available.; 

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


uniprotID: Q2M385
geneSymbol: MPEG1
name: Macrophage-expressed gene 1 protein (Macrophage gene 1 protein) (Mpg-1)
length: 716
go: ENSG00000197629;
opentargets: integral component of membrane [GO:0016021]; defense response to bacterium [GO:0042742]
snps: rs544864 rs7926933 rs17153442
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6ZRQ5
geneSymbol: MMS22L
name: Protein MMS22-like (Methyl methanesulfonate-sensitivity protein 22-like)
length: 1243
go: ENSG00000146263;
snps: rs9374435 rs9481410 rs1737145 rs10484830
sequence:

opentargets:
cytosol [GO:0005829]; nuclear replication fork [GO:0043596]; nucleoplasm [GO:0005654]; double-strand break repair via homologous recombination [GO:0000724]; replication fork processing [GO:0031297]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21055983, ECO:0000269|PubMed:21055984}. Note=Localizes to DNA damage sites, accumulates at stressed replication forks.


uniprotID: Q8N119
geneSymbol: MMP21
name: Matrix metalloproteinase-21 (MMP-21) (EC 3.4.24.-)
length: 569
go: ENSG00000154485;
drug: DB00786;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; coronary vasculature development [GO:0060976]; determination of heart left/right asymmetry [GO:0061371]; determination of left/right symmetry [GO:0007368]; hematopoietic progenitor cell differentiation [GO:0002244]

snps:
rs746379956 rs28381282 rs28381284 rs10901425 rs145789868 rs781127723 rs34811493 rs1434829861 rs747668147 rs17173746 rs773125891 rs28381302 rs946722250 rs17153524 rs150320323 rs28381319 


uniprotID: O75900
geneSymbol: MMP23A; MMP23B
length: 390
go: ENSG00000189409;
drug: DB00786;
name:
Matrix metalloproteinase-23 (MMP-23) (EC 3.4.24.-) (Femalysin) (MIFR-1) (Matrix metalloproteinase-21) (MMP-21) (Matrix metalloproteinase-22) (MMP-22) [Cleaved into: Matrix metalloproteinase-23, soluble form]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum membrane [GO:0005789]; extracellular matrix [GO:0031012]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; proteolysis [GO:0006508]; reproduction [GO:0000003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=MMP21/22A; IsoId=O75900-1; Sequence=Displayed; Name=2; Synonyms=MMP21/22B; IsoId=O75900-2; Sequence=VSP_021411; Name=3; Synonyms=MMP21/22C; IsoId=O75900-3; Sequence=VSP_021412; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Membrane {ECO:0000269|PubMed:11328856}; Single-pass type II membrane protein {ECO:0000269|PubMed:11328856}. Note=A secreted form produced by proteolytic cleavage may also exist. {ECO:0000305}.


uniprotID: P59773
geneSymbol: KIAA1024L
name: Major intrinsically disordered Notch2-binding receptor 1-like
length: 190
go: ENSG00000186367;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MDLSVLPNNNHPDKFLQLDVKSLTRSSALLQASLVRFPGGNYPAAQHWQNLVYSQREKKNIAAQRIRGSSADSLVTADSPPPSMSSVMKNNPLYGDLSLEEAMEERKKNPSWTIEEYDKHSLHTNLSGHLKENPNDLRFWLGDMYTPGFDTLLKKEEKQEKHSKFCRMGLILLVVISILVTIVTIITFFT


uniprotID: P50219
geneSymbol: MNX1
name: Motor neuron and pancreas homeobox protein 1 (Homeobox protein HB9)
length: 401
go: ENSG00000130675;
snps: rs121912548
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; endocrine pancreas development [GO:0031018]; humoral immune response [GO:0006959]; neuron projection morphogenesis [GO:0048812]; regulation of transcription by RNA polymerase II [GO:0006357]; spinal cord motor neuron cell fate specification [GO:0021520]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50219-1; Sequence=Displayed; Name=2; IsoId=P50219-2; Sequence=VSP_046773, VSP_046774; Note=Gene prediction based on EST data.; 


uniprotID: Q9H3H1
geneSymbol: TRIT1
reactome: R-HSA-6782315;R-HSA-6787450;
length: 467
go: ENSG00000043514;
snps: rs3738671
name:
tRNA dimethylallyltransferase (EC 2.5.1.75) (Isopentenyl-diphosphate:tRNA isopentenyltransferase) (IPP transferase) (IPPT) (hGRO1) (tRNA isopentenyltransferase 1) (IPTase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; nucleic acid binding [GO:0003676]; tRNA dimethylallyltransferase activity [GO:0052381]; zinc ion binding [GO:0008270]; mitochondrial tRNA modification [GO:0070900]; tRNA modification [GO:0006400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9H3H1-1; Sequence=Displayed; Name=2; IsoId=Q9H3H1-2; Sequence=VSP_010719; Note=No experimental confirmation available.; Name=3; IsoId=Q9H3H1-3; Sequence=VSP_010719, VSP_010720; Note=No experimental confirmation available.; Name=4; IsoId=Q9H3H1-4; Sequence=VSP_010721; Name=5; IsoId=Q9H3H1-5; Sequence=VSP_012415, VSP_010720; Note=No experimental confirmation available.; Name=6; IsoId=Q9H3H1-6; Sequence=VSP_053746, VSP_053747; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion {ECO:0000269|PubMed:24901367}.; SUBCELLULAR LOCATION: Isoform 4: Mitochondrion {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000305}.


uniprotID: O95907
geneSymbol: SLC16A8
reactome: R-HSA-210991;R-HSA-433692;R-HSA-70268;
name: Monocarboxylate transporter 3 (MCT 3) (Solute carrier family 16 member 8)
length: 504
go: ENSG00000100156;
drug: DB00119;
snps: rs4289289 rs2076371
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; lactate transmembrane transporter activity [GO:0015129]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; symporter activity [GO:0015293]; lactate transport [GO:0015727]; leukocyte migration [GO:0050900]; monocarboxylic acid transport [GO:0015718]; pyruvate metabolic process [GO:0006090]


uniprotID: P22894
geneSymbol: MMP8
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;R-HSA-6798695;
length: 467
go: ENSG00000118113;
drug: DB02326;DB02953;DB08476;DB07900;DB03880;DB03636;DB00786;DB08403;
snps: rs17099450 rs3765620 rs1940475 rs35056226 rs34428739 rs35243553 rs34009635 rs35866072
pdb:
1A85;1A86;1BZS;1I73;1I76;1JAN;1JAO;1JAP;1JAQ;1JH1;1JJ9;1KBC;1MMB;1MNC;1ZP5;1ZS0;1ZVX;2OY2;2OY4;3DNG;3DPE;3DPF;3TT4;4QKZ;5H8X;

name:
Neutrophil collagenase (EC 3.4.24.34) (Matrix metalloproteinase-8) (MMP-8) (PMNL collagenase) (PMNL-CL)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; endopeptidase activity [GO:0004175]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; collagen catabolic process [GO:0030574]; endodermal cell differentiation [GO:0035987]; extracellular matrix disassembly [GO:0022617]; negative regulation of gene expression [GO:0010629]; negative regulation of interleukin-10 production [GO:0032693]; neutrophil degranulation [GO:0043312]; positive regulation of DNA binding [GO:0043388]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of JNK cascade [GO:0046330]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of microglial cell activation [GO:1903980]; positive regulation of neuroinflammatory response [GO:0150078]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; positive regulation of tumor necrosis factor secretion [GO:1904469]; proteolysis [GO:0006508]; regulation of microglial cell activation [GO:1903978]; regulation of neuroinflammatory response [GO:0150077]

location:
SUBCELLULAR LOCATION: Cytoplasmic granule. Secreted, extracellular space, extracellular matrix {ECO:0000305}. Note=Stored in intracellular granules.


uniprotID: P14780
geneSymbol: MMP9
length: 707
go: ENSG00000100985;
drug: DB03683;DB05387;DB01197;DB01296;DB00786;DB01017;DB05495;
snps: rs1805088 rs41427445 rs1805089 rs3918252 rs28763886 rs17576 rs35691798 rs2250889 rs17577
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305}.
reactome:
R-HSA-1433557;R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;R-HSA-2022090;R-HSA-3928665;R-HSA-6785807;R-HSA-6798695;

pdb:
1GKC;1GKD;1ITV;1L6J;1LKG;2OVX;2OVZ;2OW0;2OW1;2OW2;4H1Q;4H2E;4H3X;4H82;4HMA;4JIJ;4JQG;4WZV;4XCT;5CUH;5I12;5TH6;5TH9;5UE3;5UE4;6ESM;

name:
Matrix metalloproteinase-9 (MMP-9) (EC 3.4.24.35) (92 kDa gelatinase) (92 kDa type IV collagenase) (Gelatinase B) (GELB) [Cleaved into: 67 kDa matrix metalloproteinase-9; 82 kDa matrix metalloproteinase-9]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; tertiary granule lumen [GO:1904724]; collagen binding [GO:0005518]; endopeptidase activity [GO:0004175]; identical protein binding [GO:0042802]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; cellular response to cadmium ion [GO:0071276]; cellular response to reactive oxygen species [GO:0034614]; collagen catabolic process [GO:0030574]; cytokine-mediated signaling pathway [GO:0019221]; embryo implantation [GO:0007566]; endodermal cell differentiation [GO:0035987]; ephrin receptor signaling pathway [GO:0048013]; extracellular matrix disassembly [GO:0022617]; leukocyte migration [GO:0050900]; macrophage differentiation [GO:0030225]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cation channel activity [GO:2001258]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001268]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; neutrophil degranulation [GO:0043312]; ossification [GO:0001503]; positive regulation of cell migration [GO:0030335]; positive regulation of DNA binding [GO:0043388]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of keratinocyte migration [GO:0051549]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of receptor binding [GO:1900122]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; proteolysis [GO:0006508]; regulation of neuroinflammatory response [GO:0150077]; skeletal system development [GO:0001501]


uniprotID: O60882
geneSymbol: MMP20
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-2022090;
pdb: 2JSD;
name: Matrix metalloproteinase-20 (MMP-20) (EC 3.4.24.-) (Enamel metalloproteinase) (Enamelysin)
length: 483
go: ENSG00000137674;
drug: DB00786;DB08271;
snps: rs2245803 rs17099014 rs17099008 rs1784423 rs1784424
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; amelogenesis [GO:0097186]; collagen catabolic process [GO:0030574]; extracellular matrix disassembly [GO:0022617]; protein catabolic process [GO:0030163]; proteolysis [GO:0006508]; regulation of enamel mineralization [GO:0070173]


uniprotID: Q9H306
geneSymbol: MMP27
name: Matrix metalloproteinase-27 (MMP-27) (EC 3.4.24.-)
length: 513
go: ENSG00000137675;
drug: DB00786;
snps: rs12099177 rs1939015 rs2846707 rs1276286 rs35616217 rs2509010 rs35822551
sequence:

opentargets:
extracellular matrix [GO:0031012]; extrinsic component of endoplasmic reticulum membrane [GO:0042406]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; collagen catabolic process [GO:0030574]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein {ECO:0000269|PubMed:24548619}. Note=Retained in the endoplasmic reticulum. {ECO:0000269|PubMed:24548619}.


uniprotID: Q9BWT6
geneSymbol: MND1
reactome: R-HSA-912446;
name: Meiotic nuclear division protein 1 homolog
length: 205
go: ENSG00000121211;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; double-stranded DNA binding [GO:0003690]; reciprocal meiotic recombination [GO:0007131]


uniprotID: P17050
geneSymbol: NAGA
pdb: 3H53;3H54;3H55;3IGU;4DO4;4DO5;4DO6;
name: Alpha-N-acetylgalactosaminidase (EC 3.2.1.49) (Alpha-galactosidase B)
length: 411
go: ENSG00000198951;
drug: DB04077;
snps: rs121434532 rs121434529 rs121434533 rs121434530
location: SUBCELLULAR LOCATION: Lysosome.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; lysosome [GO:0005764]; alpha-galactosidase activity [GO:0004557]; alpha-N-acetylgalactosaminidase activity [GO:0008456]; protein homodimerization activity [GO:0042803]; carbohydrate catabolic process [GO:0016052]; glycolipid catabolic process [GO:0019377]; glycoside catabolic process [GO:0016139]; glycosylceramide catabolic process [GO:0046477]; oligosaccharide metabolic process [GO:0009311]


uniprotID: Q8NEH6
geneSymbol: MNS1
name: Meiosis-specific nuclear structural protein 1
length: 495
go: ENSG00000138587;
snps: rs34807682 rs1715919 rs35775595 rs17852882 rs17853357
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
axoneme [GO:0005930]; intermediate filament [GO:0005882]; nuclear envelope [GO:0005635]; sperm flagellum [GO:0036126]; identical protein binding [GO:0042802]; cilium organization [GO:0044782]; left/right axis specification [GO:0070986]; meiotic cell cycle [GO:0051321]; positive regulation of cilium assembly [GO:0045724]; spermatogenesis [GO:0007283]


uniprotID: Q502X0
geneSymbol: MORN2
name: MORN repeat-containing protein 2 (MORN motif protein in testis)
sequence: MNGFGRLEHFSGAVYEGQFKDNMFHGLGTYTFPNGAKYTGNFNENRVEGEGEYTDIQGLEWSGNFHFTAAPDLKLKLHM
length: 79
go: ENSG00000188010;
snps: rs3099950
opentargets:
acrosomal vesicle [GO:0001669]; nucleus [GO:0005634]; cell differentiation [GO:0030154]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q6UL01}. Nucleus {ECO:0000250|UniProtKB:Q6UL01}. Note=Associated with the acrosome during post-meiotic stages of spermatogenesis. Appears to migrate to the nucleus during the final step of spermiogenesis. {ECO:0000250|UniProtKB:Q6UL01}.


uniprotID: Q96EN8
geneSymbol: MOCOS
reactome: R-HSA-947581;
length: 888
go: ENSG00000075643;
drug: DB00114;
name:
Molybdenum cofactor sulfurase (MCS) (MOS) (MoCo sulfurase) (hMCS) (EC 2.8.1.9) (Molybdenum cofactor sulfurtransferase)

sequence:

opentargets:
cytosol [GO:0005829]; lyase activity [GO:0016829]; Mo-molybdopterin cofactor sulfurase activity [GO:0008265]; molybdenum cofactor sulfurtransferase activity [GO:0102867]; molybdenum ion binding [GO:0030151]; pyridoxal phosphate binding [GO:0030170]; Mo-molybdopterin cofactor biosynthetic process [GO:0006777]; molybdopterin cofactor biosynthetic process [GO:0032324]; molybdopterin cofactor metabolic process [GO:0043545]

snps:
rs886037854 rs3744900 rs623053 rs540967 rs623558 rs577279030 rs678560 rs8088347 rs672924 rs594445 rs750896617 rs1057251 


uniprotID: P39210
geneSymbol: MPV17
reactome: R-HSA-9033241;
name: Protein Mpv17
length: 176
go: ENSG00000115204;
snps: rs121909721 rs121909723 rs267607256 rs267607257 rs267607258 rs267607259 rs121909722
sequence:
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; cellular response to reactive oxygen species [GO:0034614]; glomerular basement membrane development [GO:0032836]; homeostatic process [GO:0042592]; inner ear development [GO:0048839]; mitochondrial genome maintenance [GO:0000002]; protein targeting to peroxisome [GO:0006625]; regulation of reactive oxygen species metabolic process [GO:2000377]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:16582907, ECO:0000269|PubMed:16582910}; Multi-pass membrane protein {ECO:0000269|PubMed:16582907, ECO:0000269|PubMed:16582910}.


uniprotID: P45985
geneSymbol: MAP2K4
reactome: R-HSA-2559580;R-HSA-2871796;R-HSA-450321;R-HSA-5210891;R-HSA-5684264;
pdb: 3ALN;3ALO;3VUT;
length: 399
go: ENSG00000065559;
snps: rs17855590 rs753665559
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
Dual specificity mitogen-activated protein kinase kinase 4 (MAP kinase kinase 4) (MAPKK 4) (EC 2.7.12.2) (JNK-activating kinase 1) (MAPK/ERK kinase 4) (MEK 4) (SAPK/ERK kinase 1) (SEK1) (Stress-activated protein kinase kinase 1) (SAPK kinase 1) (SAPKK-1) (SAPKK1) (c-Jun N-terminal kinase kinase 1) (JNKK)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; nucleus [GO:0005634]; perikaryon [GO:0043204]; ATP binding [GO:0005524]; JUN kinase kinase activity [GO:0008545]; MAP kinase kinase activity [GO:0004708]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein tyrosine kinase activity [GO:0004713]; activation of JUN kinase activity [GO:0007257]; activation of MAPK activity [GO:0000187]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; cell growth involved in cardiac muscle cell development [GO:0061049]; cellular response to mechanical stimulus [GO:0071260]; cellular response to sorbitol [GO:0072709]; JNK cascade [GO:0007254]; negative regulation of motor neuron apoptotic process [GO:2000672]; positive regulation of DNA replication [GO:0045740]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; positive regulation of smooth muscle cell apoptotic process [GO:0034393]; response to wounding [GO:0009611]; signal transduction [GO:0007165]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P45985-1; Sequence=Displayed; Name=2; IsoId=P45985-2; Sequence=VSP_038838; Note=No experimental confirmation available.; 


uniprotID: Q9NV56
geneSymbol: MRGBP
reactome: R-HSA-3214847;
pdb: 2N1D;
name: MRG/MORF4L-binding protein (MRG-binding protein) (Up-regulated in colon cancer 4) (Urcc4)
length: 204
go: ENSG00000101189;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
NuA4 histone acetyltransferase complex [GO:0035267]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone acetylation [GO:0016573]; regulation of growth [GO:0040008]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P13591
geneSymbol: NCAM1
reactome: R-HSA-3000178;R-HSA-375165;R-HSA-419037;R-HSA-445144;R-HSA-5673001;R-HSA-877300;
pdb: 2E3V;2HAZ;2VKW;2VKX;3MTR;5AEA;5LKN;
name: Neural cell adhesion molecule 1 (N-CAM-1) (NCAM-1) (CD antigen CD56)
length: 858
go: ENSG00000149294;
snps: rs7105734 rs17115160 rs17115280 rs17174409
sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; virus receptor activity [GO:0001618]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; commissural neuron axon guidance [GO:0071679]; interferon-gamma-mediated signaling pathway [GO:0060333]; MAPK cascade [GO:0000165]; regulation of semaphorin-plexin signaling pathway [GO:2001260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P13591-2; Sequence=Displayed; Name=2; Synonyms=N-CAM 140; IsoId=P13591-1; Sequence=VSP_034818; Name=3; Synonyms=N-CAM 120; IsoId=P13591-3, P13592-2; Sequence=VSP_034818, VSP_034822, VSP_034824, VSP_034825; Name=4; IsoId=P13591-4; Sequence=VSP_034818, VSP_034824, VSP_034825; Name=5; Synonyms=C; IsoId=P13591-5, P13592-1; Sequence=VSP_034821, VSP_034823; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; IsoId=P13591-6; Sequence=VSP_034819, VSP_034820; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Lipid-anchor, GPI-anchor.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Secreted.; SUBCELLULAR LOCATION: Isoform 6: Secreted {ECO:0000305}.


uniprotID: Q6DT37
geneSymbol: CDC42BPG
length: 1551
go: ENSG00000171219;
snps: rs34454471 rs770462360 rs55688429 rs34241745 rs3741395
name:
Serine/threonine-protein kinase MRCK gamma (EC 2.7.11.1) (CDC42-binding protein kinase gamma) (DMPK-like gamma) (Myotonic dystrophy kinase-related CDC42-binding kinase gamma) (MRCK gamma) (MRCKG) (Myotonic dystrophy protein kinase-like gamma) (Myotonic dystrophy protein kinase-like alpha)

sequence:

opentargets:
cell leading edge [GO:0031252]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton reorganization [GO:0031532]; intracellular signal transduction [GO:0035556]; protein phosphorylation [GO:0006468]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15194684}. Note=Concentrates at the leading edge of cells.


uniprotID: Q6ZTZ1
geneSymbol: MSANTD1
name: Myb/SANT-like DNA-binding domain-containing protein 1
length: 278
go: ENSG00000188981;
opentargets: nuclear body [GO:0016604]
sequence:


uniprotID: Q6P1R3
geneSymbol: MSANTD2
name: Myb/SANT-like DNA-binding domain-containing protein 2
length: 559
go: ENSG00000120458;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P1R3-1; Sequence=Displayed; Name=2; IsoId=Q6P1R3-2; Sequence=VSP_022705; Name=3; IsoId=Q6P1R3-3; Sequence=VSP_022706; Note=No experimental confirmation available.; 


uniprotID: Q6ZUA9
geneSymbol: MROH5
name: Maestro heat-like repeat family member 5
length: 1318
sequence:


uniprotID: Q68DK7
geneSymbol: MSL1
reactome: R-HSA-3214847;
pdb: 4B7Y;4B86;4DNC;
length: 614
go: ENSG00000188895;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15561718}.
name:
Male-specific lethal 1 homolog (MSL-1) (Male-specific lethal 1-like 1) (MSL1-like 1) (Male-specific lethal-1 homolog 1)

sequence:

opentargets:
MSL complex [GO:0072487]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; histone H4-K16 acetylation [GO:0043984]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q68DK7-1; Sequence=Displayed; Note=Gene prediction based on EST data. No experimental confirmation available.; Name=2; IsoId=Q68DK7-2; Sequence=VSP_035237; Note=No experimental confirmation available.; Name=3; IsoId=Q68DK7-3; Sequence=VSP_035236; 


uniprotID: P35548
geneSymbol: MSX2
reactome: R-HSA-8939902;
name: Homeobox protein MSX-2 (Homeobox protein Hox-8)
length: 267
go: ENSG00000120149;
snps: rs4242182 rs104893895 rs104893895 rs104893896
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription coregulator activity [GO:0003712]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; activation of meiosis [GO:0090427]; anterior/posterior pattern specification [GO:0009952]; BMP signaling pathway involved in heart development [GO:0061312]; bone trabecula formation [GO:0060346]; branching involved in mammary gland duct morphogenesis [GO:0060444]; cellular response to estradiol stimulus [GO:0071392]; chondrocyte development [GO:0002063]; cranial suture morphogenesis [GO:0060363]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; embryonic nail plate morphogenesis [GO:0035880]; enamel mineralization [GO:0070166]; endochondral bone growth [GO:0003416]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; frontal suture morphogenesis [GO:0060364]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of CREB transcription factor activity [GO:0032792]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of keratinocyte differentiation [GO:0045617]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; negative regulation of transcription, DNA-templated [GO:0045892]; osteoblast development [GO:0002076]; osteoblast differentiation [GO:0001649]; outflow tract septum morphogenesis [GO:0003148]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of mesenchymal cell apoptotic process [GO:2001055]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of timing of catagen [GO:0051795]; signal transduction involved in regulation of gene expression [GO:0023019]; stem cell differentiation [GO:0048863]; wound healing, spreading of epidermal cells [GO:0035313]


uniprotID: Q9HCI7
geneSymbol: MSL2
reactome: R-HSA-3214847;
pdb: 4B7Y;4B86;
length: 577
go: ENSG00000174579;
name:
E3 ubiquitin-protein ligase MSL2 (EC 2.3.2.-) (E3 ubiquitin-protein transferase MSL2) (Male-specific lethal 2-like 1) (MSL2-like 1) (Male-specific lethal-2 homolog) (MSL-2) (Male-specific lethal-2 homolog 1) (RING finger protein 184)

sequence:

opentargets:
MSL complex [GO:0072487]; nucleoplasm [GO:0005654]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; histone H4-K16 acetylation [GO:0043984]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCI7-1; Sequence=Displayed; Name=2; IsoId=Q9HCI7-2; Sequence=VSP_046200; Note=No experimental confirmation available.; 


uniprotID: O43482
geneSymbol: OIP5
reactome: R-HSA-606279;
name: Protein Mis18-beta (Cancer/testis antigen 86) (CT86) (Opa-interacting protein 5) (OIP-5)
length: 229
go: ENSG00000104147;
sequence:

opentargets:
Cajal body [GO:0015030]; chromatin [GO:0000785]; chromocenter [GO:0010369]; chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; cell communication [GO:0007154]; cell cycle [GO:0007049]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]; chromosome segregation [GO:0007059]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17199038}. Chromosome {ECO:0000269|PubMed:17199038}. Chromosome, centromere {ECO:0000269|PubMed:17199038}. Note=Associated with centromeres in interphase cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associated with chromatin.


uniprotID: Q9UKD2
geneSymbol: MRTO4
name: mRNA turnover protein 4 homolog (Ribosome assembly factor MRTO4)
length: 239
go: ENSG00000053372;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; RNA binding [GO:0003723]; nuclear-transcribed mRNA catabolic process [GO:0000956]; ribosomal large subunit assembly [GO:0000027]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:20083226}. Cytoplasm {ECO:0000269|PubMed:20083226}. Note=Shuttles between the nucleus and the cytoplasm. {ECO:0000269|PubMed:20083226}.


uniprotID: A6NI15
geneSymbol: MSGN1
name: Mesogenin-1 (Paraxial mesoderm-specific mesogenin1) (pMesogenin1) (pMsgn1)
length: 193
go: ENSG00000151379;
snps: rs34069439 rs35858730
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
sequence:
MDNLRETFLSLEDGLGSSDSPGLLSSWDWKDRAGPFELNQASPSQSLSPAPSLESYSSSPCPAVAGLPCEHGGASSGGSEGCSVGGASGLVEVDYNMLAFQPTHLQGGGGPKAQKGTKVRMSVQRRRKASEREKLRMRTLADALHTLRNYLPPVYSQRGQPLTKIQTLKYTIKYIGELTDLLNRGREPRAQSA

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; 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]; segment specification [GO:0007379]; somitogenesis [GO:0001756]


uniprotID: P0C860
geneSymbol: MSL3P1
length: 447
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00972}.
name:
Putative male-specific lethal-3 protein-like 2 (MSL3-like 2) (Male-specific lethal-3 homolog 2) (Male-specific lethal-3 homolog pseudogene 1)

sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; MSL complex [GO:0072487]; NuA4 histone acetyltransferase complex [GO:0035267]; DNA binding [GO:0003677]; chromatin silencing [GO:0006342]; histone acetylation [GO:0016573]; histone deacetylation [GO:0016575]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; histone H4-K16 acetylation [GO:0043984]


uniprotID: A1L3X4
geneSymbol: MT1DP
name: Putative metallothionein MT1DP
sequence: MDLSCSCATGGSCTCASSCKCKEYKCTSCKKNCCSCCPMGCAKCAQGCT
length: 49
opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; cellular response to cadmium ion [GO:0071276]; cellular response to copper ion [GO:0071280]; cellular response to zinc ion [GO:0071294]; cellular zinc ion homeostasis [GO:0006882]; detoxification of copper ion [GO:0010273]


uniprotID: Q10713
geneSymbol: PMPCA
reactome: R-HSA-1268020;R-HSA-8949664;
name: Mitochondrial-processing peptidase subunit alpha (Alpha-MPP) (P-55)
length: 525
go: ENSG00000165688;
snps: rs869025292 rs746549806 rs753611141 rs869025293
sequence:

opentargets:
extracellular space [GO:0005615]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; mitochondrial calcium ion transmembrane transport [GO:0006851]; protein processing involved in protein targeting to mitochondrion [GO:0006627]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q10713-1; Sequence=Displayed; Name=2; IsoId=Q10713-2; Sequence=VSP_054916, VSP_054917; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P20069}. Mitochondrion inner membrane {ECO:0000269|PubMed:25808372}.


uniprotID: Q96DH6
geneSymbol: MSI2
name: RNA-binding protein Musashi homolog 2 (Musashi-2)
length: 328
go: ENSG00000153944;
location: SUBCELLULAR LOCATION: Cytoplasm. Note=Associated with polysomes. {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; polysome [GO:0005844]; ribonucleoprotein complex [GO:1990904]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; stem cell development [GO:0048864]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=Q96DH6-1; Sequence=Displayed; Name=2; IsoId=Q96DH6-2; Sequence=VSP_011168, VSP_011170, VSP_011171; Name=3; IsoId=Q96DH6-3; Sequence=VSP_011169, VSP_011170, VSP_011171; 


uniprotID: Q9BUK6
geneSymbol: MSTO1
name: Protein misato homolog 1
length: 570
snps: rs762798018 rs622288 rs749922789
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial outer membrane [GO:0005741]; mitochondrion distribution [GO:0048311]; mitochondrion organization [GO:0007005]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q9BUK6-1; Sequence=Displayed; Name=2; IsoId=Q9BUK6-2; Sequence=VSP_028056; Name=3; IsoId=Q9BUK6-3; Sequence=VSP_028054; Note=No experimental confirmation available.; Name=4; IsoId=Q9BUK6-4; Sequence=VSP_028051, VSP_028052; Note=No experimental confirmation available.; Name=5; IsoId=Q9BUK6-5; Sequence=VSP_028050, VSP_028056; Name=6; IsoId=Q9BUK6-6; Sequence=VSP_028049; Name=7; IsoId=Q9BUK6-7; Sequence=VSP_028053, VSP_028055; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:17349998, ECO:0000269|PubMed:28554942}. Cytoplasm {ECO:0000269|PubMed:28544275, ECO:0000269|PubMed:28554942}.


uniprotID: Q96PD6
geneSymbol: MOGAT1
reactome: R-HSA-75109;
length: 335
go: ENSG00000124003;
snps: rs35959734 rs1868024
name:
2-acylglycerol O-acyltransferase 1 (EC 2.3.1.22) (Acyl-CoA:monoacylglycerol acyltransferase 1) (MGAT1) (Diacylglycerol O-acyltransferase candidate 2) (hDC2) (Diacylglycerol acyltransferase 2-like protein 1) (Monoacylglycerol O-acyltransferase 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 2-acylglycerol O-acyltransferase activity [GO:0003846]; diacylglycerol O-acyltransferase activity [GO:0004144]; diacylglycerol biosynthetic process [GO:0006651]; glycerol metabolic process [GO:0006071]; triglyceride biosynthetic process [GO:0019432]


uniprotID: O96007
geneSymbol: MOCS2
reactome: R-HSA-947581;
pdb: 4AP8;5MPO;
length: 188
go: ENSG00000164172;
snps: rs2233213 rs2233215 rs2233218 rs121908605 rs2233221
name:
Molybdopterin synthase catalytic subunit (EC 2.8.1.12) (MOCO1-B) (Molybdenum cofactor synthesis protein 2 large subunit) (Molybdenum cofactor synthesis protein 2B) (MOCS2B) (Molybdopterin-synthase large subunit) (MPT synthase large subunit)

sequence:
MSSLEISSSCFSLETKLPLSPPLVEDSAFEPSRKDMDEVEEKSKDVINFTAEKLSVDEVSQLVISPLCGAISLFVGTTRNNFEGKKVISLEYEAYLPMAENEVRKICSDIRQKWPVKHIAVFHRLGLVPVSEASIIIAVSSAHRAASLEAVSYAIDTLKAKVPIWKKEIYEESSTWKGNKECFWASNS

opentargets:
cytosol [GO:0005829]; molybdopterin synthase complex [GO:0019008]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; molybdopterin synthase activity [GO:0030366]; Mo-molybdopterin cofactor biosynthetic process [GO:0006777]; molybdopterin cofactor biosynthetic process [GO:0032324]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000255|HAMAP-Rule:MF_03052, ECO:0000269|PubMed:15073332}.


uniprotID: Q5T089
geneSymbol: MORN1
name: MORN repeat-containing protein 1
length: 497
go: ENSG00000116151;
snps: rs12130128 rs17851912
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T089-1; Sequence=Displayed; Name=2; IsoId=Q5T089-2; Sequence=VSP_019994, VSP_019995; Note=No experimental confirmation available.; 


uniprotID: Q99549
geneSymbol: MPHOSPH8
pdb: 3LWE;3QO2;3R93;3SVM;
name: M-phase phosphoprotein 8 (Two hybrid-associated protein 3 with RanBPM) (Twa3)
length: 860
go: ENSG00000196199;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear heterochromatin [GO:0005720]; nuclear nucleosome [GO:0000788]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; methylated histone binding [GO:0035064]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of DNA methylation [GO:0044030]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99549-1; Sequence=Displayed; Name=2; IsoId=Q99549-2; Sequence=VSP_031523; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20871592, ECO:0000269|PubMed:23416073, ECO:0000269|PubMed:26022416, ECO:0000269|PubMed:8885239}. Chromosome {ECO:0000269|PubMed:23416073, ECO:0000269|PubMed:26022416}. Note=Detected on heterochromatin (PubMed:20871592, PubMed:26022416). Dissociates from chromatin during interphase and early mitosis (PubMed:23416073). Detected on nucleosomes (PubMed:20871592). {ECO:0000269|PubMed:20871592, ECO:0000269|PubMed:23416073, ECO:0000269|PubMed:26022416}.


uniprotID: Q9GZW8
geneSymbol: MS4A7
length: 240
go: ENSG00000166927;
opentargets: integral component of membrane [GO:0016021]
snps: rs2233241 rs2233249 rs2233251
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Membrane-spanning 4-domains subfamily A member 7 (CD20 antigen-like 4) (CD20/FC-epsilon-RI-beta family member 4) (Four-span transmembrane protein 2)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZW8-1; Sequence=Displayed; Name=2; IsoId=Q9GZW8-2; Sequence=VSP_042009; Note=No experimental confirmation available.; 


uniprotID: O43347
geneSymbol: MSI1
reactome: R-HSA-9010553;
name: RNA-binding protein Musashi homolog 1 (Musashi-1)
length: 362
go: ENSG00000135097;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; polysome [GO:0005844]; ribonucleoprotein complex [GO:1990904]; identical protein binding [GO:0042802]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; nervous system development [GO:0007399]


uniprotID: Q96J65
geneSymbol: ABCC12
name: Multidrug resistance-associated protein 9 (ATP-binding cassette sub-family C member 12)
length: 1359
go: ENSG00000140798;
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; transmembrane transport [GO:0055085]

snps:
rs16945901 rs16945874 rs16945816 rs34135219 rs8057474 rs6500305 rs6500304 rs7193955 rs34106426 rs16945787 rs12373105 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96J65-1; Sequence=Displayed; Name=2; Synonyms=A, C, D; IsoId=Q96J65-2; Sequence=VSP_021084, VSP_021088, VSP_021092; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=B; IsoId=Q96J65-3; Sequence=VSP_021084, VSP_021088, VSP_021090, VSP_021091; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q96J65-4; Sequence=VSP_021084, VSP_021086, VSP_021087; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q96J65-5; Sequence=VSP_021084, VSP_021085, VSP_021089, VSP_021092; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255|PROSITE-ProRule:PRU00441}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441}.


uniprotID: P20645
geneSymbol: M6PR
reactome: R-HSA-432720;R-HSA-6811440;R-HSA-8856825;R-HSA-8856828;
pdb: 1JUQ;
length: 277
go: ENSG00000003056;
drug: DB02755;DB01272;DB02900;
location: SUBCELLULAR LOCATION: Lysosome membrane; Single-pass type I membrane protein.
name:
Cation-dependent mannose-6-phosphate receptor (CD Man-6-P receptor) (CD-MPR) (46 kDa mannose 6-phosphate receptor) (MPR 46)

sequence:

opentargets:
clathrin-coated vesicle membrane [GO:0030665]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; transport vesicle [GO:0030133]; mannose binding [GO:0005537]; mannose transmembrane transporter activity [GO:0015578]; retromer complex binding [GO:1905394]; transmembrane signaling receptor activity [GO:0004888]; endosome to lysosome transport [GO:0008333]; membrane organization [GO:0061024]; receptor-mediated endocytosis [GO:0006898]; secretion of lysosomal enzymes [GO:0033299]


uniprotID: Q92887
geneSymbol: ABCC2
reactome: R-HSA-382556;R-HSA-5679001;
length: 1545
go: ENSG00000023839;
name:
Canalicular multispecific organic anion transporter 1 (ATP-binding cassette sub-family C member 2) (Canalicular multidrug resistance protein) (Multidrug resistance-associated protein 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; bilirubin transmembrane transporter activity [GO:0015127]; organic anion transmembrane transporter activity [GO:0008514]; transmembrane transport [GO:0055085]

drug:
DB04789;DB00171;DB00345;DB01169;DB01076;DB09060;DB08907;DB00564;DB00958;DB00439;DB02659;DB00515;DB00257;DB00286;DB00091;DB00694;DB01234;DB01248;DB00997;DB09272;DB00876;DB00977;DB00773;DB00973;DB00695;DB02703;DB08884;DB00143;DB01016;DB00365;DB01892;DB00224;DB09374;DB00328;DB00762;DB00602;DB00709;DB01202;DB11256;DB00978;DB00227;DB00563;DB00688;DB01115;DB00957;DB01165;DB00275;DB00526;DB01229;DB01174;DB00252;DB08860;DB01411;DB00175;DB01032;DB04216;DB00908;DB00206;DB01045;DB00503;DB01232;DB00641;DB00398;DB01208;DB00421;DB00795;DB01138;DB01268;DB00675;DB04348;DB00966;DB00300;DB00116;DB01586;DB00067;DB00661;DB00570;DB00541;

snps:
rs927344 rs17222744 rs56131651 rs17222674 rs7080681 rs2273697 rs17222589 rs17222561 rs17216233 rs17222632 rs56199535 rs56220353 rs17222617 rs41318029 rs17222554 rs45441199 rs17222540 rs72558200 rs72558201 rs139188247 rs8187692 rs17222723 rs757141905 rs8187699 rs17216317 rs72558202 rs56296335 rs8187710 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:11093739}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441, ECO:0000269|PubMed:11093739}.


uniprotID: B2RBV5
name: Putative MORF4 family-associated protein 1-like protein UPP (Unnamed protein product) (UPP)
length: 119
go: ENSG00000170846;
opentargets: cell proliferation [GO:0008283]
sequence:
MRPVDADEAREPREEPGSPLSPAPRAGRENLASLERERARAHWRARRKLLEIQSLLDAIKSEVEAEERGARAPAPRPRAEAEERVARLCAEAERKAAEAARMGRRIVELHQRIAGCECC


uniprotID: A6NES4
geneSymbol: MROH2A
name: Maestro heat-like repeat-containing protein family member 2A (HEAT repeat-containing protein 7B1)
length: 1674
go: ENSG00000185038;
sequence:

snps:
rs6431631 rs1500481 rs2361503 rs11563246 rs726016 rs719418 rs17864722 rs1500480 rs28900688 rs6734083 rs28900693 rs28900694 rs11563074 rs28900700 rs879665 rs879664 rs2270856 


uniprotID: Q9UJG1
geneSymbol: MOSPD1
name: Motile sperm domain-containing protein 1
length: 213
go: ENSG00000101928;
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; cell differentiation [GO:0030154]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UJG1-1; Sequence=Displayed; Name=2; IsoId=Q9UJG1-2; Sequence=VSP_014044; Name=3; IsoId=Q9UJG1-3; Sequence=VSP_014043; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8VEL0}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q8VEL0}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9UBK8
geneSymbol: MTRR
reactome: R-HSA-156581;R-HSA-1614635;R-HSA-196741;R-HSA-3359467;R-HSA-3359469;
pdb: 2QTL;2QTZ;
name: Methionine synthase reductase (MSR) (EC 1.16.1.8)
length: 725
go: ENSG00000124275;
drug: DB00115;DB00200;DB00134;
sequence:

opentargets:
cytosol [GO:0005829]; [methionine synthase] reductase activity [GO:0030586]; aquacobalamin reductase (NADPH) activity [GO:0050444]; FAD binding [GO:0071949]; flavin adenine dinucleotide binding [GO:0050660]; FMN binding [GO:0010181]; NADP binding [GO:0050661]; NADPH binding [GO:0070402]; NADPH-hemoprotein reductase activity [GO:0003958]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor [GO:0016723]; cobalamin metabolic process [GO:0009235]; DNA methylation [GO:0006306]; folic acid metabolic process [GO:0046655]; homocysteine catabolic process [GO:0043418]; homocysteine metabolic process [GO:0050667]; methionine biosynthetic process [GO:0009086]; methionine metabolic process [GO:0006555]; negative regulation of cystathionine beta-synthase activity [GO:1904042]; oxidation-reduction process [GO:0055114]; S-adenosylmethionine cycle [GO:0033353]

snps:
rs1801394 rs761061866 rs1532268 rs2303080 rs10064631 rs162036 rs2287780 rs16879334 rs137853061 rs16879355 rs10380 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=Q9UBK8-1; Sequence=Displayed; Name=B; IsoId=Q9UBK8-2; Sequence=VSP_003910; Name=C; IsoId=Q9UBK8-3; Sequence=VSP_003910, VSP_003911, VSP_003912; 

location:
SUBCELLULAR LOCATION: Isoform B: Cytoplasm.; SUBCELLULAR LOCATION: Isoform C: Cytoplasm.; SUBCELLULAR LOCATION: Isoform A: Cytoplasm {ECO:0000269|PubMed:18221906}.


uniprotID: O95563
geneSymbol: MPC2
reactome: R-HSA-70268;
name: Mitochondrial pyruvate carrier 2 (Brain protein 44)
length: 127
go: ENSG00000143158;
sequence:
MSAAGARGLRATYHRLLDKVELMLPEKLRPLYNHPAGPRTVFFWAPIMKWGLVCAGLADMARPAEKLSTAQSAVLMATGFIWSRYSLVIIPKNWSLFAVNFFVGAAGASQLFRIWRYNQELKAKAHK

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; pyruvate transmembrane transporter activity [GO:0050833]; mitochondrial acetyl-CoA biosynthetic process from pyruvate [GO:0061732]; mitochondrial pyruvate transmembrane transport [GO:0006850]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:22628558}; Multi-pass membrane protein {ECO:0000269|PubMed:22628558}.


uniprotID: Q9Y605
geneSymbol: MRFAP1
name: MORF4 family-associated protein 1 (Protein PGR1) (Protein associated with MRG of 14 kDa)
length: 127
go: ENSG00000179010;
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]
sequence:
MRPLDIVELAEPEEVEVLEPEEDFEQFLLPVINEMREDIASLTREHGRAYLRNRSKLWEMDNMLIQIKTQVEASEESALNHLQNPGDAAEGRAAKRCEKAEEKAKEIAKMAEMLVELVRRIEKSESS

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11500496, ECO:0000269|PubMed:12397079}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:11500496, ECO:0000269|PubMed:12397079}. Note=Colocalizes with MORF4L1 to cell nuclei. {ECO:0000269|PubMed:11500496, ECO:0000269|PubMed:12397079}.


uniprotID: O60669
geneSymbol: SLC16A7
reactome: R-HSA-433692;
name: Monocarboxylate transporter 2 (MCT 2) (Solute carrier family 16 member 7)
length: 478
go: ENSG00000118596;
drug: DB04319;DB01762;DB04074;DB03066;DB01440;DB04398;DB04552;DB01032;DB00119;DB04216;
snps: rs3763980
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; lactate transmembrane transporter activity [GO:0015129]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; pyruvate secondary active transmembrane transporter activity [GO:0005477]; pyruvate transmembrane transporter activity [GO:0050833]; symporter activity [GO:0015293]; lactate transmembrane transport [GO:0035873]; monocarboxylic acid transport [GO:0015718]; pyruvate transmembrane transport [GO:1901475]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15505343, ECO:0000269|PubMed:9786900}; Multi-pass membrane protein {ECO:0000269|PubMed:15505343, ECO:0000269|PubMed:9786900}.


uniprotID: Q9ULH7
geneSymbol: MRTFB
length: 1088
go: ENSG00000186260;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Myocardin-related transcription factor B (MRTF-B) (MKL/myocardin-like protein 2) (Megakaryoblastic leukemia 2)

sequence:

opentargets:
nucleus [GO:0005634]; cadherin binding [GO:0045296]; transcription coactivator activity [GO:0003713]; muscle organ development [GO:0007517]; positive regulation of striated muscle tissue development [GO:0045844]; positive regulation of transcription by RNA polymerase II [GO:0045944]; smooth muscle cell differentiation [GO:0051145]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9ULH7-1; Sequence=Displayed; Name=2; IsoId=Q9ULH7-2; Sequence=VSP_007653, VSP_007654, VSP_007655; Note=No experimental confirmation available.; Name=3; IsoId=Q9ULH7-3; Sequence=VSP_007656, VSP_007657; Note=No experimental confirmation available.; Name=4; IsoId=Q9ULH7-4; Sequence=VSP_013355, VSP_013356; Name=5; IsoId=Q9ULH7-5; Sequence=VSP_013355; 


uniprotID: Q2TV78
geneSymbol: MST1L
length: 715
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Putative macrophage stimulating 1-like protein (Brain rescue factor 1) (BRF-1) (Hepatocyte growth factor-like protein homolog)

sequence:

opentargets:
extracellular region [GO:0005576]; serine-type endopeptidase activity [GO:0004252]; positive regulation of mammary gland epithelial cell proliferation [GO:0033601]; regulation of macrophage chemotaxis [GO:0010758]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2TV78-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q2TV78-2; Sequence=VSP_034980; Note=No experimental confirmation available.; 


uniprotID: P30304
geneSymbol: CDC25A
pdb: 1C25;
name: M-phase inducer phosphatase 1 (EC 3.1.3.48) (Dual specificity phosphatase Cdc25A)
length: 524
go: ENSG00000164045;
snps: rs3731499 rs6771386 rs6771386
reactome:
R-HSA-1362277;R-HSA-156711;R-HSA-176187;R-HSA-5689880;R-HSA-69202;R-HSA-69273;R-HSA-69601;R-HSA-69656;R-HSA-8862803;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chaperone binding [GO:0051087]; phosphoprotein phosphatase activity [GO:0004721]; protein kinase binding [GO:0019901]; protein tyrosine phosphatase activity [GO:0004725]; cell division [GO:0051301]; cell proliferation [GO:0008283]; cellular response to UV [GO:0034644]; G1/S transition of mitotic cell cycle [GO:0000082]; G2/M transition of mitotic cell cycle [GO:0000086]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of G2/MI transition of meiotic cell cycle [GO:0110032]; positive regulation of mitotic cell cycle [GO:0045931]; protein deubiquitination [GO:0016579]; regulation of cell cycle [GO:0051726]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; response to radiation [GO:0009314]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CDC25A1; IsoId=P30304-1; Sequence=Displayed; Name=2; Synonyms=CDC25A2; IsoId=P30304-2; Sequence=VSP_000860; 


uniprotID: P30305
geneSymbol: CDC25B
reactome: R-HSA-69273;R-HSA-69656;R-HSA-8862803;
pdb: 1CWR;1CWS;1CWT;1QB0;1YM9;1YMD;1YMK;1YML;1YS0;2A2K;2IFD;2IFV;2UZQ;3FQT;3FQU;4WH7;4WH9;
name: M-phase inducer phosphatase 2 (EC 3.1.3.48) (Dual specificity phosphatase Cdc25B)
length: 580
go: ENSG00000101224;
drug: DB03661;
snps: rs11570019
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle pole [GO:0000922]; phosphoprotein phosphatase activity [GO:0004721]; protein kinase binding [GO:0019901]; protein tyrosine phosphatase activity [GO:0004725]; cell division [GO:0051301]; female meiosis I [GO:0007144]; G2/M transition of mitotic cell cycle [GO:0000086]; mitotic cell cycle [GO:0000278]; oocyte maturation [GO:0001556]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokinesis [GO:0032467]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of G2/MI transition of meiotic cell cycle [GO:0110032]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of protein kinase activity [GO:0045860]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; Synonyms=CDC25B3; IsoId=P30305-1; Sequence=Displayed; Name=1; Synonyms=CDC25B1; IsoId=P30305-2; Sequence=VSP_000861; Name=2; Synonyms=CDC25B2; IsoId=P30305-3; Sequence=VSP_000862; Name=4; IsoId=P30305-4; Sequence=VSP_000861, VSP_012587; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15128871, ECO:0000269|PubMed:15311285, ECO:0000269|PubMed:15908796}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:15908796}.


uniprotID: Q2M3A8
geneSymbol: MRGPRG-AS1
length: 158
snps: rs11026002 rs11026004 rs12280457
name:
Putative uncharacterized protein MRGPRG-AS1 (MRGPRG antisense RNA 1) (MRGPRG antisense gene protein 1)

sequence:
MDLASEITSATQTSSLCSSGRGHAGYPAPGIVAHGFETHGTARVAQGHLLPPCLLPPPQMPVLAALRDLSRRGSTSSSRSPSRPVSTSASKPCLPASCLGETWSISINLVGSSGHLQSPGAQRDAQRETGCLGPSWLPHHQGRDEELSLSHSAQGEEF


uniprotID: Q9Y5S2
geneSymbol: CDC42BPB
pdb: 3QFV;3TKU;4UAK;4UAL;5OTE;5OTF;
length: 1711
go: ENSG00000198752;
snps: rs36001612 rs55948035 rs34822377 rs146298297 rs56412851
name:
Serine/threonine-protein kinase MRCK beta (EC 2.7.11.1) (CDC42-binding protein kinase beta) (CDC42BP-beta) (DMPK-like beta) (Myotonic dystrophy kinase-related CDC42-binding kinase beta) (MRCK beta) (Myotonic dystrophy protein kinase-like beta)

sequence:

opentargets:
actomyosin [GO:0042641]; cell leading edge [GO:0031252]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein-containing complex binding [GO:0044877]; Rho GTPase binding [GO:0017048]; actin cytoskeleton reorganization [GO:0031532]; actomyosin structure organization [GO:0031032]; cell migration [GO:0016477]; cytoskeleton organization [GO:0007010]; establishment or maintenance of cell polarity [GO:0007163]; intracellular signal transduction [GO:0035556]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:21240187}; Peripheral membrane protein {ECO:0000269|PubMed:21240187}; Cytoplasmic side {ECO:0000269|PubMed:21240187}. Cell junction {ECO:0000269|PubMed:21240187}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q3UU96}. Note=Displays a dispersed punctate distribution and concentrates along the cell periphery, especially at the leading edge and cell-cell junction. This concentration is PH-domain dependent (By similarity). Detected at the leading edge of migrating cells. Localization at the leading edge of migrating cells requires interaction with catalytically active CDC42 (PubMed:21240187). Localizes in the lamellipodium in a FAM89B/LRAP25-dependent manner (By similarity). {ECO:0000250|UniProtKB:O54874, ECO:0000250|UniProtKB:Q3UU96, ECO:0000269|PubMed:21240187}.


uniprotID: P08118
geneSymbol: MSMB
pdb: 2IZ3;3IX0;
length: 114
go: ENSG00000263639;
opentargets: extracellular space [GO:0005615]; nucleus [GO:0005634]
snps: rs1804776 rs1804778 rs1804780 rs1804468 rs1802774 rs1802771 rs1804469 rs1804461 rs1804464
location: SUBCELLULAR LOCATION: Secreted. Note=Sperm surface.
name:
Beta-microseminoprotein (Immunoglobulin-binding factor) (IGBF) (PN44) (Prostate secreted seminal plasma protein) (Prostate secretory protein of 94 amino acids) (PSP-94) (PSP94) (Seminal plasma beta-inhibin)

sequence:
MNVLLGSVVIFATFVTLCNASCYFIPNEGVPGDSTRKCMDLKGNKHPINSEWQTDNCETCTCYETEISCCTLVSTPVGYDKDNCQRIFKKEDCKYIVVEKKDPKKTCSVSEWII

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=PSP94; IsoId=P08118-1; Sequence=Displayed; Name=PSP57; IsoId=P08118-2; Sequence=VSP_003275, VSP_003276; 


uniprotID: Q15800
geneSymbol: MSMO1
reactome: R-HSA-191273;
name: Methylsterol monooxygenase 1 (EC 1.14.18.9) (C-4 methylsterol oxidase)
length: 293
go: ENSG00000052802;
drug: DB00157;
snps: rs1310714454 rs34499452 rs869025576 rs760048191
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; C-4 methylsterol oxidase activity [GO:0000254]; iron ion binding [GO:0005506]; cholesterol biosynthetic process [GO:0006695]; fatty acid metabolic process [GO:0006631]; steroid metabolic process [GO:0008202]; sterol biosynthetic process [GO:0016126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15800-1; Sequence=Displayed; Name=2; IsoId=Q15800-2; Sequence=VSP_044585; 


uniprotID: Q4VC12
geneSymbol: MSS51
name: Putative protein MSS51 homolog, mitochondrial (Zinc finger MYND domain-containing protein 17)
length: 460
go: ENSG00000166343;
opentargets: metal ion binding [GO:0046872]; social behavior [GO:0035176]
snps: rs11591720
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q4VC12-1; Sequence=Displayed; Name=2; IsoId=Q4VC12-2; Sequence=VSP_025898, VSP_025899; Note=No experimental confirmation available.; Name=3; IsoId=Q4VC12-3; Sequence=VSP_025898, VSP_025899, VSP_025900, VSP_025901; Note=No experimental confirmation available.; 


uniprotID: O95396
geneSymbol: MOCS3
reactome: R-HSA-947581;
pdb: 3I2V;
length: 460
go: ENSG00000124217;
snps: rs7269297
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03049, ECO:0000269|PubMed:15073332}.
name:
Adenylyltransferase and sulfurtransferase MOCS3 (Molybdenum cofactor synthesis protein 3) (Molybdopterin synthase sulfurylase) (MPT synthase sulfurylase) [Includes: Molybdopterin-synthase adenylyltransferase (EC 2.7.7.80) (Adenylyltransferase MOCS3) (Sulfur carrier protein MOCS2A adenylyltransferase); Molybdopterin-synthase sulfurtransferase (EC 2.8.1.11) (Sulfur carrier protein MOCS2A sulfurtransferase) (Sulfurtransferase MOCS3)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; molybdopterin-synthase adenylyltransferase activity [GO:0061605]; molybdopterin-synthase sulfurtransferase activity [GO:0061604]; nucleotidyltransferase activity [GO:0016779]; sulfurtransferase activity [GO:0016783]; thiosulfate sulfurtransferase activity [GO:0004792]; URM1 activating enzyme activity [GO:0042292]; enzyme active site formation via cysteine modification to L-cysteine persulfide [GO:0018192]; Mo-molybdopterin cofactor biosynthetic process [GO:0006777]; molybdopterin cofactor biosynthetic process [GO:0032324]; protein urmylation [GO:0032447]; tRNA thio-modification [GO:0034227]; tRNA wobble position uridine thiolation [GO:0002143]; tRNA wobble uridine modification [GO:0002098]


uniprotID: Q9HD47
geneSymbol: RANGRF
reactome: R-HSA-5576892;
pdb: 5YFG;
name: Ran guanine nucleotide release factor (RanGNRF) (Ran-binding protein MOG1)
length: 186
go: ENSG00000108961;
snps: rs751751942
sequence:
MEPTRDCPLFGGAFSAILPMGAIDVSDLRPVPDNQEVFCHPVTDQSLIVELLELQAHVRGEAAARYHFEDVGGVQGARAVHVESVQPLSLENLALRGRCQEAWVLSGKQQIAKENQQVAKDVTLHQALLRLPQYQTDLLLTFNQPPPDNRSSLGPENLSPAPWSLGDFEQLVTSLTLHDPNIFGPQ

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intercalated disc [GO:0014704]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; guanyl-nucleotide exchange factor activity [GO:0005085]; ion channel binding [GO:0044325]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; Ran guanyl-nucleotide exchange factor activity [GO:0005087]; sodium channel regulator activity [GO:0017080]; ER to Golgi vesicle-mediated transport [GO:0006888]; positive regulation of protein localization to cell surface [GO:2000010]; positive regulation of protein localization to plasma membrane [GO:1903078]; protein exit from endoplasmic reticulum [GO:0032527]; regulation of bundle of His cell action potential [GO:0098905]; regulation of cardiac muscle cell action potential involved in regulation of contraction [GO:0098909]; regulation of heart rate [GO:0002027]; regulation of membrane depolarization [GO:0003254]; regulation of membrane depolarization during cardiac muscle cell action potential [GO:1900825]; regulation of membrane potential [GO:0042391]; regulation of microtubule nucleation by Ran protein signal transduction [GO:0090226]; regulation of sodium ion transmembrane transport [GO:1902305]; regulation of sodium ion transmembrane transporter activity [GO:2000649]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=MOG1a; IsoId=Q9HD47-1; Sequence=Displayed; Name=2; Synonyms=MOG1b; IsoId=Q9HD47-2; Sequence=VSP_033060; Name=3; IsoId=Q9HD47-3; Sequence=VSP_033059, VSP_033061; Name=4; IsoId=Q9HD47-4; Sequence=VSP_033057, VSP_033058; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11290418}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:21447824}. Cytoplasm {ECO:0000269|PubMed:11290418, ECO:0000269|PubMed:21447824}. Cell membrane {ECO:0000269|PubMed:21447824}; Peripheral membrane protein {ECO:0000305|PubMed:21447824}; Cytoplasmic side {ECO:0000305|PubMed:21447824}. Note=May shuttle between the nucleus and cytoplasm. {ECO:0000269|PubMed:11290418}.


uniprotID: P11717
geneSymbol: IGF2R
reactome: R-HSA-432722;R-HSA-6798695;R-HSA-6811440;R-HSA-8856825;R-HSA-8856828;
pdb: 1E6F;1GP0;1GP3;1GQB;1JPL;1JWG;1LF8;2CNJ;2L29;2L2A;2M68;2M6T;2V5N;2V5O;2V5P;5IEI;
length: 2491
go: ENSG00000197081;
drug: DB02900;DB01277;
name:
Cation-independent mannose-6-phosphate receptor (CI Man-6-P receptor) (CI-MPR) (M6PR) (300 kDa mannose 6-phosphate receptor) (MPR 300) (Insulin-like growth factor 2 receptor) (Insulin-like growth factor II receptor) (IGF-II receptor) (M6P/IGF2 receptor) (M6P/IGF2R) (CD antigen CD222)

sequence:

opentargets:
cell surface [GO:0009986]; clathrin coat [GO:0030118]; clathrin-coated vesicle [GO:0030136]; clathrin-coated vesicle membrane [GO:0030665]; early endosome [GO:0005769]; endocytic vesicle [GO:0030139]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; nuclear envelope lumen [GO:0005641]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; trans-Golgi network transport vesicle [GO:0030140]; transport vesicle [GO:0030133]; enzyme binding [GO:0019899]; G-protein alpha-subunit binding [GO:0001965]; identical protein binding [GO:0042802]; insulin-like growth factor binding [GO:0005520]; insulin-like growth factor II binding [GO:0031995]; insulin-like growth factor-activated receptor activity [GO:0005010]; kringle domain binding [GO:0036143]; mannose binding [GO:0005537]; phosphoprotein binding [GO:0051219]; retinoic acid binding [GO:0001972]; signaling receptor activity [GO:0038023]; animal organ regeneration [GO:0031100]; G protein-coupled receptor signaling pathway [GO:0007186]; liver development [GO:0001889]; lysosomal transport [GO:0007041]; membrane organization [GO:0061024]; neutrophil degranulation [GO:0043312]; positive regulation of apoptotic process [GO:0043065]; post-embryonic development [GO:0009791]; post-Golgi vesicle-mediated transport [GO:0006892]; receptor-mediated endocytosis [GO:0006898]; response to retinoic acid [GO:0032526]; signal transduction [GO:0007165]; spermatogenesis [GO:0007283]

snps:
rs8191704 rs8191746 rs8191753 rs8191754 rs8191758 rs8191776 rs6413489 rs8191797 rs6413491 rs8191808 rs8191819 rs8191842 rs8191843 rs8191844 rs2230043 rs8191859 rs8191860 rs2230048 rs629849 rs11552587 rs8191904 rs8191905 rs8191908 rs1805075 rs8191955 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:10900005}; Single-pass type I membrane protein {ECO:0000269|PubMed:10900005}. Note=Colocalized with DPP4 in internalized cytoplasmic vesicles adjacent to the cell surface.


uniprotID: Q9UHE5
geneSymbol: NAT8
reactome: R-HSA-977225;
length: 227
go: ENSG00000144035;
snps: rs13424561 rs13538
name:
N-acetyltransferase 8 (EC 2.3.1.-) (Acetyltransferase 2) (ATase2) (Camello-like protein 1) (Cysteinyl-conjugate N-acetyltransferase) (CCNAT) (EC 2.3.1.80)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; integral component of membrane [GO:0016021]; cysteine-S-conjugate N-acetyltransferase activity [GO:0047198]; lysine N-acetyltransferase activity, acting on acetyl phosphate as donor [GO:0004468]; amyloid-beta metabolic process [GO:0050435]; cellular protein metabolic process [GO:0044267]; glutathione metabolic process [GO:0006749]; negative regulation of apoptotic process [GO:0043066]; peptidyl-lysine N6-acetylation [GO:0018003]; positive regulation of gene expression [GO:0010628]; response to drug [GO:0042493]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane; Single-pass type II membrane protein.


uniprotID: Q969V6
geneSymbol: MRTFA
reactome: R-HSA-3899300;R-HSA-5663220;
pdb: 2KVU;2KW9;
length: 931
go: ENSG00000196588;
drug: DB08080;
snps: rs878756
name:
Myocardin-related transcription factor A (MRTF-A) (MKL/myocardin-like protein 1) (Megakaryoblastic leukemia 1 protein) (Megakaryocytic acute leukemia protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; actin binding [GO:0003779]; actin monomer binding [GO:0003785]; leucine zipper domain binding [GO:0043522]; transcription coactivator activity [GO:0003713]; actin cytoskeleton organization [GO:0030036]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription via serum response element binding [GO:0010735]; smooth muscle cell differentiation [GO:0051145]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24440334}. Nucleus {ECO:0000269|PubMed:19350017, ECO:0000269|PubMed:24440334}. Note=Subcellular location is tightly regulated by actin both in cytoplasm and nucleus: high levels of G-actin in the nucleus observed during serum deprivation lead to low levels of nuclear MRTFA, while reduced levels of nuclear G-actin result in accumulation of MRTFA in the nucleus (By similarity). G-actin-binding in the cytoplasm inhibits nuclear import by masking the nuclear localization signal (NLS) (By similarity). In contrast, binding to nuclear globular actin (G-actin) promotes nuclear export to the cytoplasm (By similarity). Nuclear localization is regulated by MICAL2, which mediates depolymerization of nuclear actin, which decreases nuclear G-actin pool, thereby promoting retention of MRTFA in the nucleus and subsequent formation of an active complex with SRF (PubMed:24440334). {ECO:0000250|UniProtKB:Q8K4J6, ECO:0000269|PubMed:24440334}.


uniprotID: O15457
geneSymbol: MSH4
reactome: R-HSA-912446;
name: MutS protein homolog 4 (hMSH4)
length: 936
go: ENSG00000057468;
snps: rs5745311 rs5745324 rs5745325 rs5745329 rs5745459 rs5745549
sequence:

opentargets:
mismatch repair complex [GO:0032300]; nuclear chromosome [GO:0000228]; nucleus [GO:0005634]; recombination nodule [GO:0005713]; synaptonemal complex [GO:0000795]; ATP binding [GO:0005524]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA-dependent ATPase activity [GO:0008094]; mismatched DNA binding [GO:0030983]; chiasma assembly [GO:0051026]; female gamete generation [GO:0007292]; homologous chromosome segregation [GO:0045143]; mismatch repair [GO:0006298]; ovarian follicle development [GO:0001541]; reciprocal meiotic recombination [GO:0007131]; resolution of meiotic recombination intermediates [GO:0000712]; spermatogenesis [GO:0007283]


uniprotID: Q96LU7
geneSymbol: MYRFL
name: Myelin regulatory factor-like protein
length: 910
go: ENSG00000166268;
snps: rs35051828 rs11177991 rs10879065
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; sequence-specific DNA binding [GO:0043565]; positive regulation of transcription, DNA-templated [GO:0045893]


uniprotID: P30307
geneSymbol: CDC25C
pdb: 2OJX;3BZI;3OP3;5M35;5M36;5M37;
name: M-phase inducer phosphatase 3 (EC 3.1.3.48) (Dual specificity phosphatase Cdc25C)
length: 473
go: ENSG00000158402;
snps: rs11567959 rs3734166 rs11567962 rs11567997
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14968113, ECO:0000269|PubMed:8119945}.
reactome:
R-HSA-156711;R-HSA-176187;R-HSA-5625740;R-HSA-6804114;R-HSA-6804115;R-HSA-69273;R-HSA-75035;R-HSA-8862803;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; phosphoprotein phosphatase activity [GO:0004721]; protein kinase binding [GO:0019901]; protein tyrosine phosphatase activity [GO:0004725]; WW domain binding [GO:0050699]; cell division [GO:0051301]; cell proliferation [GO:0008283]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; G2/M transition of mitotic cell cycle [GO:0000086]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of G2/MI transition of meiotic cell cycle [GO:0110032]; positive regulation of mitotic cell cycle [GO:0045931]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]; spermatogenesis [GO:0007283]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=CDC25C1; IsoId=P30307-1; Sequence=Displayed; Name=2; Synonyms=CDC25C2; IsoId=P30307-2; Sequence=VSP_000864; Name=3; Synonyms=CDC25C3; IsoId=P30307-5; Sequence=Not described; Name=4; Synonyms=CDC25C4; IsoId=P30307-3; Sequence=VSP_000863; Name=5; Synonyms=CDC25C5, Cdc25Cdm; IsoId=P30307-4; Sequence=VSP_000863, VSP_000864; 


uniprotID: Q6PF18
geneSymbol: MORN3
name: MORN repeat-containing protein 3
length: 240
go: ENSG00000139714;
opentargets: nucleus [GO:0005634]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PF18-1; Sequence=Displayed; Name=2; IsoId=Q6PF18-2; Sequence=VSP_019996, VSP_019997; 


uniprotID: A8MV57
geneSymbol: MPTX1
name: Putative mucosal pentraxin homolog
length: 137
opentargets: metal ion binding [GO:0046872]
sequence:
MGMYLLHIGNAAVTFNGPTPCPRSPYASTHVNVSWESASGIATLWANGKLVGRKGVWKGYSVGEEAKIILGQEQDSFGGHFDENQSFVGVIWDVFLWDHVLPPKEMCDSCYSGSLLNRHTLTYEDNGYVVTKPKVWA


uniprotID: Q96HT8
geneSymbol: MRFAP1L1
name: MORF4 family-associated protein 1-like 1
length: 127
go: ENSG00000178988;
opentargets: identical protein binding [GO:0042802]
sequence:
MRPLDIDEVEAPEEVEVLEPEEDFEQFLLPVINEMREDIASLIREHGRAYLRTRSKLWEMDNMLIQIKTQVEASEESALNHVQHPSGEADERVSELCEKAEEKAKEIAKMAEMLVELVWRIERSESS


uniprotID: Q96G30
geneSymbol: MRAP2
name: Melanocortin-2 receptor accessory protein 2 (MC2R accessory protein 2)
length: 205
go: ENSG00000135324;
snps: rs761868293 rs368589399 rs148904867
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; corticotropin hormone receptor binding [GO:0031780]; identical protein binding [GO:0042802]; receptor regulator activity [GO:0030545]; type 1 melanocortin receptor binding [GO:0070996]; type 3 melanocortin receptor binding [GO:0031781]; type 4 melanocortin receptor binding [GO:0031782]; type 5 melanocortin receptor binding [GO:0031783]; energy homeostasis [GO:0097009]; energy reserve metabolic process [GO:0006112]; feeding behavior [GO:0007631]; negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0106072]; negative regulation of protein localization to plasma membrane [GO:1903077]; positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0106071]; protein localization to plasma membrane [GO:0072659]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19329486}; Single-pass membrane protein {ECO:0000269|PubMed:19329486}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:19329486}; Single-pass membrane protein {ECO:0000269|PubMed:19329486}. Note=The formation of antiparallel homo- and heterodimers suggest that N- and C-terminus can both localize in the cytoplasmic and extracellular parts, depending on the context. {ECO:0000269|PubMed:20371771}.


uniprotID: Q8TDS7
geneSymbol: MRGPRD
length: 321
go: ENSG00000172938;
name:
Mas-related G-protein coupled receptor member D (Beta-alanine receptor) (G-protein coupled receptor TGR7)

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15037633}; Multi-pass membrane protein {ECO:0000269|PubMed:15037633}. Note=Localized at the plasma membrane but internalized into the cytoplasm after treatment with beta-alanine.


uniprotID: O15394
geneSymbol: NCAM2
pdb: 2DOC;2JLL;2KBG;2V5T;2VAJ;2WIM;2XY1;2XY2;2XYC;
name: Neural cell adhesion molecule 2 (N-CAM-2) (NCAM-2)
length: 837
go: ENSG00000154654;
snps: rs35654962 rs232518
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
axon [GO:0030424]; integral component of membrane [GO:0016021]; nuclear body [GO:0016604]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; axonal fasciculation [GO:0007413]; neuron cell-cell adhesion [GO:0007158]; sensory perception of smell [GO:0007608]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15394-1; Sequence=Displayed; Name=2; IsoId=O15394-2; Sequence=VSP_056637, VSP_056638, VSP_056639; Note=No experimental confirmation available.; 


uniprotID: O14594
geneSymbol: NCAN
name: Neurocan core protein (Chondroitin sulfate proteoglycan 3)
length: 1321
go: ENSG00000130287;
drug: DB02379;DB08818;DB04396;
snps: rs2228601 rs2228603 rs1064389
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
reactome:
R-HSA-1971475;R-HSA-2022870;R-HSA-2022923;R-HSA-2024101;R-HSA-3000178;R-HSA-3560783;R-HSA-3560801;R-HSA-3595172;R-HSA-3595174;R-HSA-3595177;R-HSA-373760;R-HSA-419037;R-HSA-4420332;

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; hyaluronic acid binding [GO:0005540]; cell adhesion [GO:0007155]; central nervous system development [GO:0007417]; chondroitin sulfate biosynthetic process [GO:0030206]; chondroitin sulfate catabolic process [GO:0030207]; dermatan sulfate biosynthetic process [GO:0030208]; extracellular matrix organization [GO:0030198]


uniprotID: O15439
geneSymbol: ABCC4
reactome: R-HSA-114608;R-HSA-382556;
length: 1325
go: ENSG00000125257;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Multidrug resistance-associated protein 4 (ATP-binding cassette sub-family C member 4) (MRP/cMOAT-related ABC transporter) (Multi-specific organic anion transporter B) (MOAT-B)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; platelet dense granule membrane [GO:0031088]; 15-hydroxyprostaglandin dehydrogenase (NAD+) activity [GO:0016404]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism [GO:0015662]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; cilium assembly [GO:0060271]; platelet degranulation [GO:0002576]; positive regulation of smooth muscle cell proliferation [GO:0048661]; prostaglandin secretion [GO:0032310]; response to drug [GO:0042493]; response to organic cyclic compound [GO:0014070]; response to organonitrogen compound [GO:0010243]; transmembrane transport [GO:0055085]

drug:
DB00718;DB00770;DB01076;DB01327;DB00482;DB02659;DB00286;DB02527;DB00586;DB00917;DB00975;DB00544;DB00712;DB00158;DB08884;DB00143;DB01050;DB00328;DB01009;DB00709;DB00814;DB01033;DB00563;DB00731;DB00198;DB01032;DB00533;DB01098;DB00203;DB00398;DB01138;DB01268;DB04348;DB00300;DB00352;DB01586;DB00661;DB00495;

snps:
rs11568681 rs11568689 rs4148460 rs45454092 rs11568658 rs11568684 rs2274407 rs11568701 rs11568705 rs11568668 rs11568669 rs753414892 rs11568699 rs11568697 rs9282570 rs3765534 rs146708960 rs11568659 rs11568694 rs45477596 rs139970608 rs45504892 rs11568644 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O15439-1; Sequence=Displayed; Name=2; IsoId=O15439-2; Sequence=VSP_035426; Name=3; IsoId=O15439-3; Sequence=VSP_043283, VSP_043284; Note=No experimental confirmation available.; Name=4; IsoId=O15439-4; Sequence=VSP_057413, VSP_043283, VSP_043284; Note=No experimental confirmation available.; 


uniprotID: Q9H3V2
geneSymbol: MS4A5
length: 200
go: ENSG00000166930;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Membrane-spanning 4-domains subfamily A member 5 (CD20 antigen-like 2) (Testis-expressed transmembrane protein 4)

sequence:


uniprotID: O15374
geneSymbol: SLC16A4
length: 487
go: ENSG00000168679;
drug: DB00119;
snps: rs35157487 rs2271885
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Monocarboxylate transporter 5 (MCT 5) (Monocarboxylate transporter 4) (MCT 4) (Solute carrier family 16 member 4)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; symporter activity [GO:0015293]; monocarboxylic acid transport [GO:0015718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O15374-1; Sequence=Displayed; Name=2; IsoId=O15374-2; Sequence=VSP_046242, VSP_046243; Note=No experimental confirmation available.; Name=3; IsoId=O15374-3; Sequence=VSP_046244; Note=No experimental confirmation available.; Name=4; IsoId=O15374-4; Sequence=VSP_046456, VSP_046458; Note=No experimental confirmation available.; Name=5; IsoId=O15374-5; Sequence=VSP_046457; Note=No experimental confirmation available.; 


uniprotID: Q6ZSM3
geneSymbol: SLC16A12
length: 516
go: ENSG00000152779;
name:
Monocarboxylate transporter 12 (MCT 12) (Creatine transporter 2) (CRT2) (Solute carrier family 16 member 12)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; creatine transmembrane transporter activity [GO:0005308]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; symporter activity [GO:0015293]; creatine transmembrane transport [GO:0015881]; monocarboxylic acid transport [GO:0015718]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21778275, ECO:0000269|PubMed:23578822}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q5VZ52
geneSymbol: MORN5
name: MORN repeat-containing protein 5
length: 161
go: ENSG00000185681;
sequence:
MEYTGSKYIGEYVDGRMEGKAKYILPTETIYVGEMKDGMFHGEGTLYFPSGSQYDAIWENGLAIKGTYTFSDGLHYDEKNWHYCDGYDRRFYTEILNGLKPAGMAQLTNMDPPRKIPKGYYDCGDGFYNPVTRVVKDYRNRFLRNADDDEHEWITRTCRKG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VZ52-1; Sequence=Displayed; Name=2; IsoId=Q5VZ52-2; Sequence=VSP_055496; Note=No experimental confirmation available.; 


uniprotID: Q7RTX9
geneSymbol: SLC16A14
name: Monocarboxylate transporter 14 (MCT 14) (Solute carrier family 16 member 14)
length: 510
go: ENSG00000163053;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; symporter activity [GO:0015293]; monocarboxylic acid transport [GO:0015718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7RTX9-1; Sequence=Displayed; Name=2; IsoId=Q7RTX9-2; Sequence=VSP_025826; Note=No experimental confirmation available.; 


uniprotID: Q99550
geneSymbol: MPHOSPH9
name: M-phase phosphoprotein 9
length: 1183
go: ENSG00000051825;
snps: rs36121382 rs1260318
sequence:

opentargets:
centriole [GO:0005814]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99550-1; Sequence=Displayed; Note=No experimental confirmation. Gene prediction based on EST data.; Name=2; IsoId=Q99550-2; Sequence=VSP_035838; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Golgi apparatus membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Localizes to the distal and proximal end of centriole pairs in duplicated centrosomes. In ciliated cells, localizes to the distal and proximal end of daughter centriole and proximal of the mother centriole but not in the distal end of the mother centriole.


uniprotID: O75352
geneSymbol: MPDU1
reactome: R-HSA-446193;R-HSA-4687000;
length: 247
go: ENSG00000129255;
snps: rs104894586 rs104894589 rs104894587 rs16956808 rs10852891
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Mannose-P-dolichol utilization defect 1 protein (Suppressor of Lec15 and Lec35 glycosylation mutation homolog) (SL15)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; oligosaccharide biosynthetic process [GO:0009312]; protein folding [GO:0006457]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75352-1; Sequence=Displayed; Name=2; IsoId=O75352-2; Sequence=VSP_056349, VSP_056350; Note=No experimental confirmation available.; 


uniprotID: O15440
geneSymbol: ABCC5
reactome: R-HSA-2142850;R-HSA-382556;
length: 1437
go: ENSG00000114770;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Multidrug resistance-associated protein 5 (ATP-binding cassette sub-family C member 5) (Multi-specific organic anion transporter C) (MOAT-C) (SMRP) (pABC11)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; organic anion transmembrane transporter activity [GO:0008514]; hyaluronan biosynthetic process [GO:0030213]; transmembrane transport [GO:0055085]

drug:
DB00718;DB00770;DB01076;DB00515;DB02527;DB00917;DB00975;DB00544;DB00143;DB01033;DB01032;DB01045;DB00203;DB01138;DB00495;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O15440-1; Sequence=Displayed; Name=2; Synonyms=SV1; IsoId=O15440-2; Sequence=VSP_043397, VSP_043402; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=SV2; IsoId=O15440-3; Sequence=VSP_043398, VSP_043401, VSP_043402; Note=Predominant isoform in retinal pigment epithelium, bladder, and stomach.; Name=4; Synonyms=SV3; IsoId=O15440-4; Sequence=VSP_043399, VSP_043400, VSP_043402; Name=5; IsoId=O15440-5; Sequence=VSP_055354; 


uniprotID: Q8NDA8
geneSymbol: MROH1
name: Maestro heat-like repeat-containing protein family member 1 (HEAT repeat-containing protein 7A)
length: 1641
go: ENSG00000179832;
snps: rs34819224
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q8NDA8-1; Sequence=Displayed; Name=2; IsoId=Q8NDA8-2; Sequence=VSP_032974, VSP_032976, VSP_032977; Name=3; IsoId=Q8NDA8-3; Sequence=VSP_032963, VSP_032975, VSP_032978; Name=4; IsoId=Q8NDA8-4; Sequence=VSP_032968, VSP_032971; Name=5; IsoId=Q8NDA8-5; Sequence=VSP_032966, VSP_032967; Name=6; IsoId=Q8NDA8-6; Sequence=VSP_032965, VSP_032969, VSP_032970; Name=7; IsoId=Q8NDA8-7; Sequence=VSP_032972, VSP_032973; 


uniprotID: Q86TA1
geneSymbol: MOB3B
length: 216
go: ENSG00000120162;
opentargets: metal ion binding [GO:0046872]; regulation of hippo signaling [GO:0035330]
name:
MOB kinase activator 3B (Mob1 homolog 2b) (Mps one binder kinase activator-like 2B) (MOB kinase activator-like 2B)

sequence:


uniprotID: Q9NRJ1
geneSymbol: C8orf17
name: Protein MOST-1
sequence: MGECPHLVDVRLGHRSLATGPEQSDICHTGSEARWTTTWYGSLSFSRHKYKMLADLTPGVEMSCRHWARWLTPVIPALWKAEAGGLPELRSSRPAWTTW
length: 99
snps: rs2233233 rs2233235 rs2233236
opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; nucleus [GO:0005634]; organelle membrane [GO:0031090]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell proliferation [GO:0008284]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17143515}. Microsome membrane {ECO:0000269|PubMed:17143515}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17143515}.


uniprotID: P00540
geneSymbol: MOS
length: 346
go: ENSG00000172680;
snps: rs34532635 rs35392772 rs56300224
name:
Proto-oncogene serine/threonine-protein kinase mos (EC 2.7.11.1) (Oocyte maturation factor mos) (Proto-oncogene c-Mos)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; MAP kinase kinase kinase activity [GO:0004709]; protein serine/threonine kinase activity [GO:0004674]; activation of MAPK activity [GO:0000187]; activation of MAPKK activity [GO:0000186]; chromatin organization [GO:0006325]; establishment of meiotic spindle orientation [GO:0051296]; meiotic spindle organization [GO:0000212]; negative regulation of metaphase/anaphase transition of meiotic cell cycle [GO:1902103]; positive regulation of MAPK cascade [GO:0043410]; protein autophosphorylation [GO:0046777]


uniprotID: Q86VD1
geneSymbol: MORC1
name: MORC family CW-type zinc finger protein 1 (Cancer/testis antigen 33) (CT33)
length: 984
go: ENSG00000114487;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
male germ cell nucleus [GO:0001673]; nucleus [GO:0005634]; zinc ion binding [GO:0008270]; behavioral fear response [GO:0001662]; cell differentiation [GO:0030154]; DNA hypermethylation [GO:0044026]; DNA methylation involved in gamete generation [GO:0043046]; multicellular organism development [GO:0007275]; negative regulation of DNA-templated transcription, initiation [GO:2000143]; negative regulation of transposition [GO:0010529]; regulation of gene expression, epigenetic [GO:0040029]; spermatogenesis [GO:0007283]

snps:
rs35282274 rs17225637 rs3762696 rs4855576 rs3762697 rs35421732 rs2290057 rs2593943 rs16855035 rs16855035 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VD1-1; Sequence=Displayed; Name=2; IsoId=Q86VD1-2; Sequence=VSP_055495; Note=No experimental confirmation available.; 


uniprotID: Q96LB0
geneSymbol: MRGPRX3
length: 322
go: ENSG00000179826;
snps: rs12291017 rs4274188
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Mas-related G-protein coupled receptor member X3 (Sensory neuron-specific G-protein coupled receptor 1/2)

sequence:


uniprotID: Q96BY2
geneSymbol: MOAP1
name: Modulator of apoptosis 1 (MAP-1) (MAP1) (Paraneoplastic antigen Ma4)
length: 351
go: ENSG00000165943;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; ubiquitin protein ligase binding [GO:0031625]; apoptotic signaling pathway [GO:0097190]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; positive regulation of apoptotic process [GO:0043065]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:0001844]


uniprotID: O15427
geneSymbol: SLC16A3
reactome: R-HSA-210991;R-HSA-433692;R-HSA-70268;
name: Monocarboxylate transporter 4 (MCT 4) (Solute carrier family 16 member 3)
length: 465
go: ENSG00000141526;
drug: DB03884;DB01762;DB04074;DB03066;DB01942;DB01440;DB04398;DB00627;DB03940;DB00119;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; lactate transmembrane transporter activity [GO:0015129]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; RNA binding [GO:0003723]; symporter activity [GO:0015293]; leukocyte migration [GO:0050900]; monocarboxylic acid transport [GO:0015718]; plasma membrane lactate transport [GO:0035879]; pyruvate metabolic process [GO:0006090]


uniprotID: Q8WUY8
geneSymbol: NAT14
name: N-acetyltransferase 14 (EC 2.3.1.-) (K562 cell-derived leucine-zipper-like protein 1)
length: 206
go: ENSG00000090971;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; nucleus [GO:0005634]; DNA binding [GO:0003677]; transferase activity, transferring acyl groups [GO:0016746]; DNA-templated transcription, initiation [GO:0006352]; positive regulation of transcription, DNA-templated [GO:0045893]


uniprotID: Q2QL34
geneSymbol: MPV17L
name: Mpv17-like protein (M-LP homolog) (M-LPH)
length: 196
go: ENSG00000156968;
sequence:
MAGWWPALSRAARRHPWPTNVLLYGSLVSAGDALQQRLQGREANWRQTRRVATLVVTFHANFNYVWLRLLERALPGRAPHALLAKLLCDQVVGAPIAVSAFYVGMSILQGKDDIFLDLKQKFWNTYLSGLMYWPFVQLTNFSLVPVQWRTAYAGVCGFLWATFICFSQQSGDGTFKSAFTILYTKGTSATEGYPKK

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; signaling receptor binding [GO:0005102]; negative regulation of hydrogen peroxide biosynthetic process [GO:0010730]; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901029]; reactive oxygen species metabolic process [GO:0072593]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=M-LPH1; IsoId=Q2QL34-1; Sequence=Displayed; Name=2; Synonyms=M-LPH2; IsoId=Q2QL34-2; Sequence=VSP_033462, VSP_033463; 

location:
SUBCELLULAR LOCATION: Isoform 1: Peroxisome membrane {ECO:0000269|PubMed:16631601}; Multi-pass membrane protein.


uniprotID: Q86VX9
geneSymbol: MON1A
reactome: R-HSA-8876198;
name: Vacuolar fusion protein MON1 homolog A
length: 652
go: ENSG00000164077;
sequence:

opentargets:
cytosol [GO:0005829]; Mon1-Ccz1 complex [GO:0035658]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein secretion [GO:0009306]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86VX9-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=2; IsoId=Q86VX9-2; Sequence=VSP_059430, VSP_059431; Name=3; IsoId=Q86VX9-3; Sequence=VSP_059430, VSP_059431, VSP_059432, VSP_059433; Name=4; IsoId=Q86VX9-4; Sequence=VSP_059431; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=5; IsoId=Q86VX9-5; Sequence=VSP_059430; 


uniprotID: Q9H8S9
geneSymbol: MOB1A
reactome: R-HSA-2028269;
pdb: 1PI1;4J1V;4JIZ;5BRK;5BRM;5TWF;5TWG;5TWH;5XQZ;
length: 216
go: ENSG00000114978;
name:
MOB kinase activator 1A (Mob1 alpha) (Mob1A) (Mob1 homolog 1B) (Mps one binder kinase activator-like 1B)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; hippo signaling [GO:0035329]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8S9-1; Sequence=Displayed; Name=2; IsoId=Q9H8S9-2; Sequence=VSP_012295, VSP_012296; Note=May be due to an intron retention.; 


uniprotID: P26038
geneSymbol: MSN
reactome: R-HSA-437239;R-HSA-8950505;
pdb: 1E5W;1EF1;1SGH;
name: Moesin (Membrane-organizing extension spike protein)
length: 577
go: ENSG00000147065;
snps: rs1057519074
sequence:

opentargets:
apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; blood microparticle [GO:0072562]; cell periphery [GO:0071944]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; invadopodium [GO:0071437]; microvillus [GO:0005902]; microvillus membrane [GO:0031528]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; pseudopodium [GO:0031143]; uropod [GO:0001931]; vesicle [GO:0031982]; actin binding [GO:0003779]; cell adhesion molecule binding [GO:0050839]; double-stranded RNA binding [GO:0003725]; enzyme binding [GO:0019899]; protein kinase binding [GO:0019901]; signaling receptor binding [GO:0005102]; structural constituent of cytoskeleton [GO:0005200]; cellular response to testosterone stimulus [GO:0071394]; establishment of endothelial barrier [GO:0061028]; establishment of epithelial cell apical/basal polarity [GO:0045198]; gland morphogenesis [GO:0022612]; immunological synapse formation [GO:0001771]; interleukin-12-mediated signaling pathway [GO:0035722]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; membrane to membrane docking [GO:0022614]; positive regulation of cellular protein catabolic process [GO:1903364]; positive regulation of early endosome to late endosome transport [GO:2000643]; positive regulation of gene expression [GO:0010628]; positive regulation of podosome assembly [GO:0071803]; positive regulation of protein localization to early endosome [GO:1902966]; regulation of cell shape [GO:0008360]; regulation of cell size [GO:0008361]; regulation of lymphocyte migration [GO:2000401]; regulation of organelle assembly [GO:1902115]; T cell aggregation [GO:0070489]; T cell migration [GO:0072678]; T cell proliferation [GO:0042098]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18586956}; Peripheral membrane protein {ECO:0000250|UniProtKB:P26041}; Cytoplasmic side {ECO:0000250|UniProtKB:P26041}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P26041}. Apical cell membrane {ECO:0000250|UniProtKB:P26041}; Peripheral membrane protein {ECO:0000250|UniProtKB:P26041}; Cytoplasmic side {ECO:0000250|UniProtKB:P26041}. Cell projection, microvillus membrane {ECO:0000250|UniProtKB:P26041}; Peripheral membrane protein {ECO:0000250|UniProtKB:P26041}; Cytoplasmic side {ECO:0000250|UniProtKB:P26041}. Cell projection, microvillus {ECO:0000250|UniProtKB:P26041}. Note=Phosphorylated form is enriched in microvilli-like structures at apical membrane. Increased cell membrane localization of both phosphorylated and non-phosphorylated forms seen after thrombin treatment (By similarity). {ECO:0000250|UniProtKB:P26041, ECO:0000269|PubMed:18586956}.


uniprotID: Q8N8M0
geneSymbol: NAT16
name: Probable N-acetyltransferase 16 (EC 2.3.1.-)
length: 369
go: ENSG00000167011;
opentargets: transferase activity, transferring acyl groups other than amino-acyl groups [GO:0016747]
snps: rs34985488
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N8M0-1; Sequence=Displayed; Name=2; IsoId=Q8N8M0-2; Sequence=VSP_055771, VSP_055772; Note=No experimental confirmation available.; 


uniprotID: Q8TCY5
geneSymbol: MRAP
length: 172
go: ENSG00000170262;
name:
Melanocortin-2 receptor accessory protein (B27) (Fat cell-specific low molecular weight protein) (Fat tissue-specific low MW protein)

sequence:
MANGTNASAPYYSYEYYLDYLDLIPVDEKKLKAHKHSIVIAFWVSLAAFVVLLFLILLYMSWSASPQMRNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPLATSQAQASSVEPGSRTGPDQPLRQESSSTLPLGGFQTHPTLLWELTLNGGPLVRSKPSEPPPGDRTSQLQS

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; corticotropin hormone receptor binding [GO:0031780]; identical protein binding [GO:0042802]; type 1 melanocortin receptor binding [GO:0070996]; type 3 melanocortin receptor binding [GO:0031781]; type 4 melanocortin receptor binding [GO:0031782]; type 5 melanocortin receptor binding [GO:0031783]; negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0106072]; negative regulation of protein localization to plasma membrane [GO:1903077]; positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0106071]; protein localization to plasma membrane [GO:0072659]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=Q8TCY5-4; Sequence=Displayed; Name=1; Synonyms=Alpha, MRAP-alpha; IsoId=Q8TCY5-1; Sequence=VSP_021020; Name=2; Synonyms=Beta, MRAP-beta; IsoId=Q8TCY5-2; Sequence=VSP_003863, VSP_003864; Name=3; Synonyms=Short; IsoId=Q8TCY5-3; Sequence=VSP_003862; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15654338}; Single-pass membrane protein {ECO:0000269|PubMed:15654338}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:15654338}; Single-pass membrane protein {ECO:0000269|PubMed:15654338}. Note=The formation of antiparallel homo- and heterodimers suggest that N- and C-terminus can both localize in the cytoplasmic and extracellular parts, depending on the context (PubMed:20371771). Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm. {ECO:0000269|PubMed:20371771}.


uniprotID: Q8N594
geneSymbol: MPND
name: MPN domain-containing protein (EC 3.4.-.-)
length: 471
go: ENSG00000008382;
opentargets: metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N594-1; Sequence=Displayed; Name=2; IsoId=Q8N594-2; Sequence=VSP_023400, VSP_023401; 


uniprotID: Q96LB2
geneSymbol: MRGPRX1
length: 322
go: ENSG00000170255;
snps: rs11024885 rs78179510 rs55954376 rs111448117 rs140351170 rs143702818 rs137866403
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Mas-related G-protein coupled receptor member X1 (Sensory neuron-specific G-protein coupled receptor 3/4)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; transmembrane signaling receptor activity [GO:0004888]; acute-phase response [GO:0006953]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; response to chloroquine [GO:1902349]; signal transduction [GO:0007165]


uniprotID: Q16653
geneSymbol: MOG
pdb: 1Q70;
name: Myelin-oligodendrocyte glycoprotein
length: 247
go: ENSG00000204655;
snps: rs387906655 rs2857766 rs3130253
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; virus receptor activity [GO:0001618]; cell adhesion [GO:0007155]; central nervous system development [GO:0007417]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Alpha-1; IsoId=Q16653-1; Sequence=Displayed; Name=2; Synonyms=Alpha-2; IsoId=Q16653-2; Sequence=VSP_002543; Name=3; Synonyms=Alpha-3; IsoId=Q16653-3; Sequence=VSP_002542; Name=4; Synonyms=Alpha-4; IsoId=Q16653-4; Sequence=VSP_002539; Name=5; Synonyms=Beta-1; IsoId=Q16653-5; Sequence=VSP_002545; Name=6; Synonyms=Beta-2; IsoId=Q16653-6; Sequence=VSP_002543, VSP_002545; Name=7; Synonyms=Beta-3; IsoId=Q16653-7; Sequence=VSP_002542, VSP_002545; Name=8; Synonyms=Beta-4; IsoId=Q16653-8; Sequence=VSP_002544, VSP_002545; Name=9; IsoId=Q16653-9; Sequence=VSP_002540, VSP_002541; Note=Not functionally active. May be expressed at low level in the adult.; Name=10; IsoId=Q16653-10; Sequence=VSP_040344, VSP_040345; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=11; IsoId=Q16653-11; Sequence=VSP_046856; Name=12; IsoId=Q16653-12; Sequence=VSP_002539, VSP_002542; Name=13; Synonyms=X1; IsoId=Q16653-13; Sequence=VSP_055600; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 6: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 7: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 8: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 9: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q9NZW5
geneSymbol: MPP6
name: MAGUK p55 subfamily member 6 (Veli-associated MAGUK 1) (VAM-1)
length: 540
go: ENSG00000105926;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; membrane [GO:0016020]; plasma membrane [GO:0005886]; PDZ domain binding [GO:0030165]; protein-containing complex assembly [GO:0065003]


uniprotID: Q6WCQ1
geneSymbol: MPRIP
reactome: R-HSA-6802952;
name: Myosin phosphatase Rho-interacting protein (M-RIP) (Rho-interacting protein 3) (RIP3) (p116Rip)
length: 1025
go: ENSG00000133030;
snps: rs3744137
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; actin binding [GO:0003779]; cadherin binding [GO:0045296]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:15545284}; IsoId=Q6WCQ1-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14506264}; IsoId=Q6WCQ1-2; Sequence=VSP_051948; Name=3 {ECO:0000305}; IsoId=Q6WCQ1-3; Sequence=VSP_051947, VSP_051948; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:14506264, ECO:0000269|PubMed:16257966}. Note=Colocalizes with F-actin.


uniprotID: P22897
geneSymbol: MRC1
reactome: R-HSA-1236978;
pdb: 1EGG;1EGI;5XTS;5XTW;
length: 1456
go: ENSG00000260314;
snps: rs2296414 rs1926736 rs71497223 rs2437257
name:
Macrophage mannose receptor 1 (MMR) (C-type lectin domain family 13 member D) (C-type lectin domain family 13 member D-like) (Human mannose receptor) (hMR) (Macrophage mannose receptor 1-like protein 1) (CD antigen CD206)

sequence:

opentargets:
cell surface [GO:0009986]; endosome membrane [GO:0010008]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cargo receptor activity [GO:0038024]; mannose binding [GO:0005537]; transmembrane signaling receptor activity [GO:0004888]; virus receptor activity [GO:0001618]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-4 [GO:0071353]; cellular response to lipopolysaccharide [GO:0071222]; receptor-mediated endocytosis [GO:0006898]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22897-1; Sequence=Displayed; Name=2; IsoId=P22897-2; Sequence=VSP_041340, VSP_041341; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:20035344}; Single-pass type I membrane protein {ECO:0000269|PubMed:20035344}. Cell membrane {ECO:0000269|PubMed:20035344}; Single-pass type I membrane protein {ECO:0000269|PubMed:20035344}.


uniprotID: P52701
geneSymbol: MSH6
reactome: R-HSA-5358565;R-HSA-5632928;R-HSA-5632968;
pdb: 2GFU;2O8B;2O8C;2O8D;2O8E;2O8F;
length: 1360
go: ENSG00000116062;
name:
DNA mismatch repair protein Msh6 (hMSH6) (G/T mismatch-binding protein) (GTBP) (GTMBP) (MutS protein homolog 6) (MutS-alpha 160 kDa subunit) (p160)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; mismatch repair complex [GO:0032300]; MutSalpha complex [GO:0032301]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; damaged DNA binding [GO:0003684]; DNA-dependent ATPase activity [GO:0008094]; enzyme binding [GO:0019899]; four-way junction DNA binding [GO:0000400]; guanine/thymine mispair binding [GO:0032137]; methylated histone binding [GO:0035064]; mismatched DNA binding [GO:0030983]; determination of adult lifespan [GO:0008340]; DNA repair [GO:0006281]; interstrand cross-link repair [GO:0036297]; intrinsic apoptotic signaling pathway [GO:0097193]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; isotype switching [GO:0045190]; maintenance of DNA repeat elements [GO:0043570]; meiotic mismatch repair [GO:0000710]; mismatch repair [GO:0006298]; mitotic G2 DNA damage checkpoint [GO:0007095]; negative regulation of DNA endoreduplication [GO:0032876]; negative regulation of DNA recombination [GO:0045910]; positive regulation of helicase activity [GO:0051096]; positive regulation of isotype switching [GO:0045830]; pyrimidine dimer repair [GO:0006290]; replication fork arrest [GO:0043111]; response to UV [GO:0009411]; somatic hypermutation of immunoglobulin genes [GO:0016446]; somatic recombination of immunoglobulin gene segments [GO:0016447]; viral process [GO:0016032]

snps:
rs41294988 rs63750664 rs267608026 rs35462442 rs1042821 rs63751098 rs41294984 rs63751258 rs63750143 rs3211299 rs1800938 rs41557217 rs63750878 rs267608051 rs587779323 rs61753793 rs2020908 rs63751405 rs63750741 rs41295268 rs61754783 rs63750897 rs63751005 rs63751009 rs728619 rs63749973 rs41295270 rs587779220 rs201735525 rs63751121 rs3136334 rs63750462 rs587779224 rs63750358 rs63750832 rs63750304 rs35552856 rs63750725 rs63750138 rs63750637 rs63750895 rs61748083 rs63751450 rs63750389 rs34374438 rs2020912 rs2020914 rs63749889 rs63751113 rs63750287 rs267608054 rs63750804 rs63750617 rs63750753 rs63750998 rs63750998 rs63750253 rs63750442 rs63750157 rs63750252 rs63751328 rs63750949 rs63750370 rs41295276 rs35717727 rs63750882 rs63750673 rs63750836 rs41295278 rs267608140 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=GTBP-N; IsoId=P52701-1; Sequence=Displayed; Name=GTBP-alt; IsoId=P52701-2; Sequence=VSP_003291, VSP_003292; Name=3; IsoId=P52701-3; Sequence=VSP_054419; Note=No experimental confirmation available.; Name=4; IsoId=P52701-4; Sequence=VSP_055020; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23622243}. Chromosome {ECO:0000269|PubMed:23622243}. Note=Associates with H3K36me3 via its PWWP domain.


uniprotID: P47224
geneSymbol: RABIF
pdb: 1FWQ;2FU5;
name: Guanine nucleotide exchange factor MSS4 (Rab-interacting factor)
length: 123
go: ENSG00000183155;
sequence:
MEPAEQPSELVSAEGRNRKAVLCQRCGSRVLQPGTALFSRRQLFLPSMRKKPALSDGSNPDGDLLQEHWLVEDMFIFENVGFTKDVGNIKFLVCADCEIGPIGWHCLDDKNSFYVALERVSHE

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; guanyl-nucleotide exchange factor activity [GO:0005085]; zinc ion binding [GO:0008270]; membrane fusion [GO:0061025]; post-Golgi vesicle-mediated transport [GO:0006892]; protein transport [GO:0015031]; small GTPase mediated signal transduction [GO:0007264]


uniprotID: Q9UBG0
geneSymbol: MRC2
reactome: R-HSA-1236978;
pdb: 5AO5;5AO6;5E4K;5E4L;5EW6;
length: 1479
go: ENSG00000011028;
snps: rs2014055 rs2429387
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
C-type mannose receptor 2 (C-type lectin domain family 13 member E) (Endocytic receptor 180) (Macrophage mannose receptor 2) (Urokinase-type plasminogen activator receptor-associated protein) (UPAR-associated protein) (Urokinase receptor-associated protein) (CD antigen CD280)

sequence:

opentargets:
focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; carbohydrate binding [GO:0030246]; collagen binding [GO:0005518]; transmembrane signaling receptor activity [GO:0004888]; collagen catabolic process [GO:0030574]; endocytosis [GO:0006897]; osteoblast differentiation [GO:0001649]


uniprotID: Q6NTE8
geneSymbol: MRNIP
name: MRN complex-interacting protein (MRN-interacting protein)
length: 343
go: ENSG00000161010;
snps: rs1650893 rs1650893 rs248248 rs10277
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; mitotic G2 DNA damage checkpoint [GO:0007095]; positive regulation of double-strand break repair via homologous recombination [GO:1905168]; positive regulation of protein kinase activity [GO:0045860]; protein localization to chromatin [GO:0071168]; regulation of double-strand break repair via nonhomologous end joining [GO:2001032]; response to ionizing radiation [GO:0010212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6NTE8-1; Sequence=Displayed; Name=2; IsoId=Q6NTE8-2; Sequence=VSP_032560, VSP_032561, VSP_032562; Name=3; IsoId=Q6NTE8-3; Sequence=VSP_047227; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27568553}. Nucleus, nucleoplasm {ECO:0000269|PubMed:27568553}. Note=Recruited to sites of DNA damage (PubMed:27568553). Phosphorylation on Ser-115 induces its nuclear localization and promotes genome stability (PubMed:27568553). {ECO:0000269|PubMed:27568553}.


uniprotID: Q6UVY6
geneSymbol: MOXD1
name: DBH-like monooxygenase protein 1 (EC 1.14.17.-) (Monooxygenase X)
length: 613
go: ENSG00000079931;
snps: rs36075540 rs17851680
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; secretory granule membrane [GO:0030667]; copper ion binding [GO:0005507]; dopamine beta-monooxygenase activity [GO:0004500]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen [GO:0016715]; dopamine catabolic process [GO:0042420]; norepinephrine biosynthetic process [GO:0042421]; octopamine biosynthetic process [GO:0006589]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=Q6UVY6-1; Sequence=Displayed; Note=Major.; Name=2; Synonyms=Short; IsoId=Q6UVY6-2; Sequence=VSP_028288, VSP_028289; 


uniprotID: Q8TAP9
geneSymbol: MPLKIP
name: M-phase-specific PLK1-interacting protein (TTD non-photosensitive 1 protein)
length: 179
go: ENSG00000168303;
snps: rs565833937 rs137853117
sequence:
MQRQNFRPPTPPYPGPGGGGWGSGSSFRGTPGGGGPRPPSPRDGYGSPHHTPPYGPRSRPYGSSHSPRHGGSFPGGRFGSPSPGGYPGSYSRSPAGSQQQFGYSPGQQQTHPQGSPRTSTPFGSGRVREKRMSNELENYFKPSMLEDPWAGLEPVSVVDISQQYSNTQTFTGKKGRYFC

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cell cycle [GO:0007049]; cell division [GO:0051301]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=The subcellular location is regulated during cell cycle. During interphase located in the nucleus. During mitosis located at the centrosome and dispersed in the cytoplasm. During telophase located in the midbody. Colocalizes with PLK1 at the centrosome in M phase.


uniprotID: Q96LA9
geneSymbol: MRGPRX4
length: 322
go: ENSG00000179817;
snps: rs2468774 rs2445180 rs1869788 rs2445179 rs11024532 rs7102322
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Mas-related G-protein coupled receptor member X4 (Sensory neuron-specific G-protein coupled receptor 5/6)

sequence:


uniprotID: Q9Y5U8
geneSymbol: MPC1
reactome: R-HSA-70268;
name: Mitochondrial pyruvate carrier 1 (Brain protein 44-like protein)
length: 109
go: ENSG00000060762;
snps: rs11557064 rs387907238 rs387907237
sequence:
MAGALVRKAADYVRSKDFRDYLMSTHFWGPVANWGLPIAAINDMKKSPEIISGRMTFALCCYSLTFMRFAYKVQPRNWLLFACHATNEVAQLIQGGRLIKHEMTKTASA

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrion [GO:0005739]; pyruvate transmembrane transporter activity [GO:0050833]; cellular response to leukemia inhibitory factor [GO:1990830]; mitochondrial acetyl-CoA biosynthetic process from pyruvate [GO:0061732]; mitochondrial pyruvate transmembrane transport [GO:0006850]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:22628558}; Multi-pass membrane protein {ECO:0000269|PubMed:22628558}.


uniprotID: O95297
geneSymbol: MPZL1
name: Myelin protein zero-like protein 1 (Protein zero-related)
length: 269
go: ENSG00000197965;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; structural molecule activity [GO:0005198]; cell-cell signaling [GO:0007267]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=MPZL1a; IsoId=O95297-1; Sequence=Displayed; Name=2; Synonyms=PZR1a; IsoId=O95297-2; Sequence=VSP_019343; Name=3; Synonyms=PZR1b; IsoId=O95297-3; Sequence=VSP_019344; Name=4; Synonyms=MPZL1b; IsoId=O95297-4; Sequence=VSP_019342; Name=5; IsoId=O95297-5; Sequence=VSP_043341; Note=No experimental confirmation available.; 


uniprotID: O75970
geneSymbol: MPDZ
pdb: 2FCF;2FNE;2IWN;2IWO;2IWP;2IWQ;2O2T;2OPG;2QG1;
name: Multiple PDZ domain protein (Multi-PDZ domain protein 1)
length: 2070
go: ENSG00000107186;
snps: rs17273542 rs3739757 rs4741289 rs4740548 rs16930134 rs2274648
sequence:

opentargets:
apical plasma membrane [GO:0016324]; apicolateral plasma membrane [GO:0016327]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; dendrite [GO:0030425]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; Schmidt-Lanterman incisure [GO:0043220]; protein C-terminus binding [GO:0008022]; cell adhesion [GO:0007155]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75970-1; Sequence=Displayed; Name=2; IsoId=O75970-2; Sequence=VSP_040451; Name=3; IsoId=O75970-3; Sequence=VSP_040450; Name=4; IsoId=O75970-5; Sequence=VSP_040450, VSP_040451; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Apical cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, dendrite. Cell junction, tight junction. Cell junction, synapse. Cell junction, synapse, synaptosome. Note=Associated with membranes. Colocalizes with HTR2C on the apical membrane of epithelial choroid plexus cells. Highly enriched in postsynaptic densities (PSD). Localized to punctae on dendrites of hippocampal neurons and colocalizes with the synaptic marker DLG4. Localized mainly in the Schmidt-Lanterman incisures of myelinating Schwann cells (By similarity). In the retina, localizes to the sub-apical region adjacent to the adherens junction complex at the outer limiting membrane. Enriched at the tight junctions of epithelial cells. Association to the tight junctions depends on CXADR. {ECO:0000250}.


uniprotID: Q53F39
geneSymbol: MPPE1
name: Metallophosphoesterase 1 (EC 3.1.-.-) (Post-GPI attachment to proteins factor 5)
length: 396
go: ENSG00000154889;
snps: rs11872520 rs35611363 rs662515 rs16976814
sequence:

opentargets:
cis-Golgi network [GO:0005801]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; GPI anchor binding [GO:0034235]; manganese ion binding [GO:0030145]; phosphoric diester hydrolase activity [GO:0008081]; ER to Golgi vesicle-mediated transport [GO:0006888]; GPI anchor biosynthetic process [GO:0006506]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q53F39-1; Sequence=Displayed; Name=2; IsoId=Q53F39-2; Sequence=VSP_030683; Name=3; IsoId=Q53F39-3; Sequence=VSP_030679, VSP_030683; Name=4; IsoId=Q53F39-4; Sequence=VSP_030680; Note=No experimental confirmation available.; Name=5; IsoId=Q53F39-5; Sequence=VSP_030681, VSP_030682; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:19837036}; Multi-pass membrane protein {ECO:0000269|PubMed:19837036}. Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:19837036}; Multi-pass membrane protein {ECO:0000269|PubMed:19837036}. Note=Also localizes to endoplasmic reticulum exit site.


uniprotID: P43246
geneSymbol: MSH2
reactome: R-HSA-5358565;R-HSA-5358606;R-HSA-5632927;R-HSA-5632928;R-HSA-5632968;R-HSA-6796648;
pdb: 2O8B;2O8C;2O8D;2O8E;2O8F;3THW;3THX;3THY;3THZ;
name: DNA mismatch repair protein Msh2 (hMSH2) (MutS protein homolog 2)
length: 934
go: ENSG00000095002;
sequence:

opentargets:
membrane [GO:0016020]; mismatch repair complex [GO:0032300]; MutSalpha complex [GO:0032301]; MutSbeta complex [GO:0032302]; nuclear chromosome [GO:0000228]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; centromeric DNA binding [GO:0019237]; chromatin binding [GO:0003682]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA-dependent ATPase activity [GO:0008094]; double-strand/single-strand DNA junction binding [GO:0000406]; enzyme binding [GO:0019899]; four-way junction DNA binding [GO:0000400]; guanine/thymine mispair binding [GO:0032137]; heteroduplex DNA loop binding [GO:0000404]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; Y-form DNA binding [GO:0000403]; B cell differentiation [GO:0030183]; B cell mediated immunity [GO:0019724]; cell cycle arrest [GO:0007050]; determination of adult lifespan [GO:0008340]; DNA repair [GO:0006281]; double-strand break repair [GO:0006302]; germ cell development [GO:0007281]; in utero embryonic development [GO:0001701]; interstrand cross-link repair [GO:0036297]; intra-S DNA damage checkpoint [GO:0031573]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; isotype switching [GO:0045190]; maintenance of DNA repeat elements [GO:0043570]; male gonad development [GO:0008584]; meiotic gene conversion [GO:0006311]; meiotic mismatch repair [GO:0000710]; mismatch repair [GO:0006298]; mitotic recombination [GO:0006312]; negative regulation of DNA recombination [GO:0045910]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of reciprocal meiotic recombination [GO:0045128]; oxidative phosphorylation [GO:0006119]; positive regulation of helicase activity [GO:0051096]; positive regulation of isotype switching to IgA isotypes [GO:0048298]; positive regulation of isotype switching to IgG isotypes [GO:0048304]; postreplication repair [GO:0006301]; protein localization to chromatin [GO:0071168]; pyrimidine dimer repair [GO:0006290]; replication fork arrest [GO:0043111]; response to UV-B [GO:0010224]; response to X-ray [GO:0010165]; somatic hypermutation of immunoglobulin genes [GO:0016446]; somatic recombination of immunoglobulin gene segments [GO:0016447]

snps:
rs63750466 rs56170584 rs17217716 rs63749907 rs63750966 rs63751107 rs63751260 rs17217723 rs587779085 rs63750285 rs33946261 rs587782354 rs63751429 rs63750002 rs63750887 rs193922373 rs41295286 rs17217772 rs63750124 rs63750126 rs63750773 rs63750624 rs63750214 rs63750214 rs63750582 rs587779163 rs63750255 rs63750716 rs63750070 rs63751291 rs63751444 rs63751444 rs63750327 rs63751110 rs587779973 rs63749984 rs63749936 rs63750881 rs34136999 rs63750381 rs63751454 rs4987188 rs63750732 rs63750732 rs753237286 rs267607938 rs63750828 rs63750602 rs63751062 rs63749879 rs587779067 rs63751617 rs80285180 rs564736113 rs17224367 rs63750006 rs267607959 rs35107951 rs63750492 rs63751207 rs587778523 rs63750838 rs63751656 rs63750997 rs55778204 rs201118107 rs41295288 rs63751236 rs63750657 rs267607980 rs63749982 rs28929483 rs61756468 rs63750875 rs267607981 rs587779116 rs28929484 rs63749946 rs267607982 rs1085308057 rs63751668 rs41294982 rs63751232 rs267607996 rs63750234 rs63750234 rs587779128 rs63750790 rs63750232 rs267607994 rs63750398 rs63750961 rs63751224 rs587781996 rs63750794 rs267608007 rs63751477 rs386833406 rs63750684 rs41295292 rs41295294 rs587781678 rs63749841 rs63750623 rs63750757 rs41295296 rs267608016 rs63750027 rs63750571 rs63750797 rs63750849 rs63751400 rs63750709 rs63750795 rs63750350 rs267608022 rs34319539 rs41295182 rs146421227 rs267608023 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43246-1; Sequence=Displayed; Name=2; IsoId=P43246-2; Sequence=VSP_045536; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26300262}. Chromosome {ECO:0000269|PubMed:26300262}.


uniprotID: Q86W26
geneSymbol: NLRP10
pdb: 2M5V;
length: 655
go: ENSG00000182261;
name:
NACHT, LRR and PYD domains-containing protein 10 (Nucleotide-binding oligomerization domain protein 8)

sequence:

opentargets:
cytoplasm [GO:0005737]; extrinsic component of plasma membrane [GO:0019897]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; GTPase activity [GO:0003924]; adaptive immune response [GO:0002250]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; positive regulation of defense response to bacterium [GO:1900426]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-1 alpha secretion [GO:0050717]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of interleukin-8 secretion [GO:2000484]; positive regulation of T-helper 1 type immune response [GO:0002827]; positive regulation of T-helper 17 type immune response [GO:2000318]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22672233}. Cell membrane {ECO:0000269|PubMed:22672233}; Peripheral membrane protein {ECO:0000305}. Note=Cytoplasmic protein which is recruited to the cell membrane by NOD1 following invasive bacterial infection. {ECO:0000269|PubMed:22672233}.


uniprotID: Q96KJ4
geneSymbol: MSLNL
name: Mesothelin-like protein (Pre-pro-megakaryocyte-potentiating-factor-like)
length: 702
go: ENSG00000162006;
snps: rs12599363 rs9746539
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; cell-matrix adhesion [GO:0007160]


uniprotID: Q9H9S0
geneSymbol: NANOG
reactome: R-HSA-2892245;R-HSA-2892247;R-HSA-452723;R-HSA-6785807;
pdb: 2KT0;4RBO;
name: Homeobox protein NANOG (Homeobox transcription factor Nanog) (hNanog)
length: 305
go: ENSG00000111704;
snps: rs2889551
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:15983365}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cytokine-mediated signaling pathway [GO:0019221]; endodermal cell fate specification [GO:0001714]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell differentiation [GO:0045595]; regulation of gene expression [GO:0010468]; regulation of transcription, DNA-templated [GO:0006355]; somatic stem cell population maintenance [GO:0035019]; stem cell population maintenance [GO:0019827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H9S0-1; Sequence=Displayed; Name=2; Synonyms=Nanog-delta 48; IsoId=Q9H9S0-2; Sequence=VSP_021688; 


uniprotID: Q69YI7
geneSymbol: NAIF1
name: Nuclear apoptosis-inducing factor 1
length: 327
go: ENSG00000171169;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16378748, ECO:0000269|PubMed:18339812}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; negative regulation of cell growth [GO:0030308]; regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902108]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q69YI7-1; Sequence=Displayed; Name=2; IsoId=Q69YI7-2; Sequence=VSP_014447, VSP_014448; Note=No experimental confirmation available.; 


uniprotID: Q8IVL1
geneSymbol: NAV2
pdb: 2YRN;
length: 2488
go: ENSG00000166833;
snps: rs6483617 rs16937251 rs3802799 rs3802800 rs35891966
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12214280}.
name:
Neuron navigator 2 (EC 3.6.4.12) (Helicase APC down-regulated 1) (Pore membrane and/or filament-interacting-like protein 2) (Retinoic acid inducible in neuroblastoma 1) (Steerin-2) (Unc-53 homolog 2) (unc53H2)

sequence:

opentargets:
interstitial matrix [GO:0005614]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; heparin binding [GO:0008201]; glossopharyngeal nerve development [GO:0021563]; locomotory behavior [GO:0007626]; nervous system development [GO:0007399]; neurogenesis [GO:0022008]; optic nerve development [GO:0021554]; regulation of systemic arterial blood pressure by baroreceptor feedback [GO:0003025]; sensory perception of smell [GO:0007608]; sensory perception of sound [GO:0007605]; vagus nerve development [GO:0021564]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Comment=Additional isoforms may exist.; Name=1; IsoId=Q8IVL1-1; Sequence=Displayed; Name=2; Synonyms=RAINB1d; IsoId=Q8IVL1-2; Sequence=VSP_021934, VSP_021937; Name=3; Synonyms=HELAD1L; IsoId=Q8IVL1-3; Sequence=VSP_021934, VSP_021937, VSP_021938; Name=4; Synonyms=HELAD1S; IsoId=Q8IVL1-4; Sequence=VSP_021927, VSP_021934, VSP_021937, VSP_021938; Name=5; IsoId=Q8IVL1-5; Sequence=VSP_021926, VSP_021935, VSP_021936, VSP_021937, VSP_021938; Name=6; IsoId=Q8IVL1-6; Sequence=VSP_021925, VSP_021937, VSP_021938; Name=7; IsoId=Q8IVL1-7; Sequence=VSP_021924; Name=8; IsoId=Q8IVL1-8; Sequence=VSP_021932; Name=9; IsoId=Q8IVL1-9; Sequence=VSP_021933; Name=10; IsoId=Q8IVL1-10; Sequence=VSP_021928; Name=11; IsoId=Q8IVL1-11; Sequence=VSP_021929; Name=12; IsoId=Q8IVL1-12; Sequence=VSP_021930; Name=13; IsoId=Q8IVL1-13; Sequence=VSP_021931; 


uniprotID: O14931
geneSymbol: NCR3
reactome: R-HSA-198933;
pdb: 3NOI;3PV6;
length: 201
go: ENSG00000204475;
snps: rs11575840 rs3179003
name:
Natural cytotoxicity triggering receptor 3 (Activating natural killer receptor p30) (Natural killer cell p30-related protein) (NK-p30) (NKp30) (CD antigen CD337)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; cell recognition [GO:0008037]; immune response [GO:0006955]; immune response-activating cell surface receptor signaling pathway [GO:0002429]; inflammatory response [GO:0006954]; natural killer cell activation [GO:0030101]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=1C7a; IsoId=O14931-1; Sequence=Displayed; Name=2; Synonyms=1C7c; IsoId=O14931-2; Sequence=VSP_010413; Name=3; Synonyms=1C7b; IsoId=O14931-3; Sequence=VSP_010412; Name=4; Synonyms=1C7e; IsoId=O14931-4; Sequence=VSP_010411; Note=No experimental confirmation available.; Name=5; Synonyms=1C7f; IsoId=O14931-5; Sequence=VSP_010411, VSP_010413; Note=No experimental confirmation available.; Name=6; Synonyms=1C7d; IsoId=O14931-6; Sequence=VSP_010411, VSP_010412; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10562324}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: P56597
geneSymbol: NME5
length: 212
go: ENSG00000112981;
name:
Nucleoside diphosphate kinase homolog 5 (NDK-H 5) (NDP kinase homolog 5) (Inhibitor of p53-induced apoptosis-beta) (IPIA-beta) (Testis-specific nm23 homolog) (nm23-H5)

sequence:

opentargets:
sperm flagellum [GO:0036126]; nucleoside diphosphate kinase activity [GO:0004550]; cilium assembly [GO:0060271]; CTP biosynthetic process [GO:0006241]; epithelial cilium movement [GO:0003351]; GTP biosynthetic process [GO:0006183]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; nucleoside metabolic process [GO:0009116]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]; UTP biosynthetic process [GO:0006228]; ventricular system development [GO:0021591]


uniprotID: O43196
geneSymbol: MSH5
reactome: R-HSA-912446;
name: MutS protein homolog 5 (hMSH5)
length: 834
go: ENSG00000204410;ENSG00000255152;
sequence:

opentargets:
mismatch repair complex [GO:0032300]; synaptonemal complex [GO:0000795]; ATP binding [GO:0005524]; damaged DNA binding [GO:0003684]; DNA-dependent ATPase activity [GO:0008094]; mismatched DNA binding [GO:0030983]; chiasma assembly [GO:0051026]; homologous chromosome segregation [GO:0045143]; mismatch repair [GO:0006298]; reciprocal meiotic recombination [GO:0007131]; resolution of meiotic recombination intermediates [GO:0000712]

snps:
rs2075789 rs28381349 rs28381358 rs28381359 rs28399976 rs28399977 rs1060505055 rs752657544 rs1802127 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O43196-1; Sequence=Displayed; Name=2; IsoId=O43196-2; Sequence=VSP_017114; Name=3; IsoId=O43196-3; Sequence=VSP_017113; Note=No experimental confirmation available.; Name=4; IsoId=O43196-4; Sequence=VSP_017113, VSP_017114, VSP_017115; Note=No experimental confirmation available.; 


uniprotID: Q9UI43
geneSymbol: MRM2
reactome: R-HSA-6793080;
pdb: 2NYU;
length: 246
go: ENSG00000122687;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:24036117, ECO:0000269|PubMed:25009282}.
name:
rRNA methyltransferase 2, mitochondrial (EC 2.1.1.-) (16S rRNA (uridine(1369)-2'-O)-methyltransferase) (16S rRNA [Um1369] 2'-O-methyltransferase) (Protein ftsJ homolog 2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; rRNA (uridine-2'-O-)-methyltransferase activity [GO:0008650]; cell proliferation [GO:0008283]; rRNA 2'-O-methylation [GO:0000451]; rRNA methylation [GO:0031167]; rRNA processing [GO:0006364]


uniprotID: P04732
geneSymbol: MT1E
reactome: R-HSA-5661231;
name: Metallothionein-1E (MT-1E) (Metallothionein-IE) (MT-IE)
sequence: MDPNCSCATGGSCTCAGSCKCKECKCTSCKKSCCSCCPVGCAKCAQGCVCKGASEKCSCCA
length: 61
go: ENSG00000169715;
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 zinc ion [GO:0071294]; cellular zinc ion homeostasis [GO:0006882]; detoxification of copper ion [GO:0010273]; negative regulation of growth [GO:0045926]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04732-1; Sequence=Displayed; Name=2; IsoId=P04732-2; Sequence=VSP_041603; 


uniprotID: Q8IVN3
geneSymbol: MUSTN1
name: Musculoskeletal embryonic nuclear protein 1
sequence: MSQAGAQEAPIKKKRPPVKDEDLKGARGNLTKNQEIKSKTYQVMRECEQAGSAAPSVFSRTRTGTETVFEKPKAGPTKSVFG
length: 82
go: ENSG00000272573;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
opentargets:
nucleus [GO:0005634]; chondrocyte differentiation [GO:0002062]; chondrocyte proliferation [GO:0035988]; tissue regeneration [GO:0042246]


uniprotID: Q13421
geneSymbol: MSLN
reactome: R-HSA-163125;R-HSA-381426;R-HSA-8957275;
pdb: 4F3F;
length: 630
go: ENSG00000102854;
snps: rs9927389 rs17850474 rs35935235 rs1135210
name:
Mesothelin (CAK1 antigen) (Pre-pro-megakaryocyte-potentiating factor) [Cleaved into: Megakaryocyte-potentiating factor (MPF); Mesothelin, cleaved form]

sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; cell-matrix adhesion [GO:0007160]; cellular protein metabolic process [GO:0044267]; pancreas development [GO:0031016]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13421-1; Sequence=Displayed; Note=Minor form.; Name=2; IsoId=Q13421-3; Sequence=VSP_021059; Note=Major form.; Name=3; Synonyms=SMRP; IsoId=Q13421-2; Sequence=VSP_021059, VSP_021060; Note=Soluble form found in the sera from patients with ovarian carcinoma.; Name=4; IsoId=Q13421-4; Sequence=VSP_021058, VSP_021059; 

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Golgi apparatus.; SUBCELLULAR LOCATION: Megakaryocyte-potentiating factor: Secreted.; SUBCELLULAR LOCATION: Isoform 3: Secreted.


uniprotID: P59046
geneSymbol: NLRP12
pdb: 2L6A;4XHS;5H7N;
length: 1061
go: ENSG00000142405;
snps: rs34436714 rs34971363
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
NACHT, LRR and PYD domains-containing protein 12 (Monarch-1) (PYRIN-containing APAF1-like protein 7) (Regulated by nitric oxide)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; cellular response to cytokine stimulus [GO:0071345]; dendritic cell migration [GO:0036336]; negative regulation of cytokine secretion [GO:0050710]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-1 secretion [GO:0050711]; negative regulation of interleukin-6 biosynthetic process [GO:0045409]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of signal transduction [GO:0009968]; negative regulation of Toll signaling pathway [GO:0045751]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of MHC class I biosynthetic process [GO:0045345]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043281]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; regulation of interleukin-18 biosynthetic process [GO:0045381]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=I; IsoId=P59046-1; Sequence=Displayed; Name=2; Synonyms=II; IsoId=P59046-2; Sequence=VSP_005524; Name=3; Synonyms=III; IsoId=P59046-3; Sequence=VSP_005523; Name=4; Synonyms=IV; IsoId=P59046-4; Sequence=VSP_009879; Name=5; Synonyms=rno-2; IsoId=P59046-5; Sequence=VSP_016908, VSP_016909, VSP_016910; Name=6; IsoId=P59046-6; Sequence=VSP_054622; Note=No experimental confirmation available.; Name=7; IsoId=P59046-7; Sequence=VSP_055193; Note=No experimental confirmation.; 


uniprotID: Q92597
geneSymbol: NDRG1
reactome: R-HSA-6803205;
length: 394
go: ENSG00000104419;
snps: rs2233319 rs2233328
name:
Protein NDRG1 (Differentiation-related gene 1 protein) (DRG-1) (N-myc downstream-regulated gene 1 protein) (Nickel-specific induction protein Cap43) (Reducing agents and tunicamycin-responsive protein) (RTP) (Rit42)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; cadherin binding [GO:0045296]; gamma-tubulin binding [GO:0043015]; microtubule binding [GO:0008017]; Rab GTPase binding [GO:0017137]; cellular response to hypoxia [GO:0071456]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; mast cell activation [GO:0045576]; negative regulation of cell proliferation [GO:0008285]; peripheral nervous system myelin maintenance [GO:0032287]; postsynapse organization [GO:0099173]; regulation of apoptotic process [GO:0042981]; response to metal ion [GO:0010038]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92597-1; Sequence=Displayed; Name=2; IsoId=Q92597-2; Sequence=VSP_045038; Note=No experimental confirmation available.; Name=3; IsoId=Q92597-3; Sequence=VSP_045037; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cell membrane. Note=Mainly cytoplasmic but differentially localized to other regions. Associates with the plasma membrane in intestinal epithelia and lactating mammary gland. Translocated to the nucleus in a p53/TP53-dependent manner. In prostate epithelium and placental chorion, located in both the cytoplasm and in the nucleus. No nuclear localization in colon epithelium cells. In intestinal mucosa, prostate and renal cortex, located predominantly adjacent to adherens junctions. Cytoplasmic with granular staining in proximal tubular cells of the kidney and salivary gland ducts. Recruits to the membrane of recycling/sorting and late endosomes via binding to phosphatidylinositol 4-phosphate. Associates with microtubules. Colocalizes with TUBG1 in the centrosome. Cytoplasmic location increased with hypoxia. Phosphorylated form found associated with centromeres during S-phase of mitosis and with the plasma membrane.


uniprotID: P13640
geneSymbol: MT1G
reactome: R-HSA-5661231;
name: Metallothionein-1G (MT-1G) (Metallothionein-1K) (MT-1K) (Metallothionein-IG) (MT-IG)
sequence: MDPNCSCAAAGVSCTCASSCKCKECKCTSCKKSCCSCCPVGCAKCAQGCICKGASEKCSCCA
length: 62
go: ENSG00000125144;
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 vascular endothelial growth factor stimulus [GO:0035924]; cellular response to zinc ion [GO:0071294]; cellular zinc ion homeostasis [GO:0006882]; detoxification of copper ion [GO:0010273]; monocyte activation [GO:0042117]; monocyte differentiation [GO:0030224]; negative regulation of growth [GO:0045926]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13640-1; Sequence=Displayed; Name=2; IsoId=P13640-2; Sequence=VSP_017230; 


uniprotID: Q7Z494
geneSymbol: NPHP3
reactome: R-HSA-5624138;
pdb: 5L7K;
name: Nephrocystin-3
length: 1330
go: ENSG00000113971;ENSG00000274810;
sequence:

opentargets:
cilium [GO:0005929]; cytosol [GO:0005829]; atrial septum development [GO:0003283]; cilium assembly [GO:0060271]; convergent extension involved in gastrulation [GO:0060027]; determination of intestine left/right asymmetry [GO:0071908]; determination of left/right symmetry [GO:0007368]; determination of liver left/right asymmetry [GO:0071910]; determination of pancreatic left/right asymmetry [GO:0035469]; determination of stomach left/right asymmetry [GO:0071909]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]; heart looping [GO:0001947]; kidney development [GO:0001822]; kidney morphogenesis [GO:0060993]; lung development [GO:0030324]; maintenance of animal organ identity [GO:0048496]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; photoreceptor cell maintenance [GO:0045494]; regulation of planar cell polarity pathway involved in neural tube closure [GO:2000167]; regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000095]; ureter development [GO:0072189]; Wnt signaling pathway [GO:0016055]

snps:
rs119456960 rs142021049 rs755094682 rs119456963 rs1057521090 rs202048210 rs143451766 rs35485382 rs75316802 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q7Z494-1; Sequence=Displayed; Name=2; IsoId=Q7Z494-2; Sequence=VSP_014480, VSP_014481; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z494-3; Sequence=VSP_014488, VSP_014489; Name=4; IsoId=Q7Z494-4; Sequence=VSP_014482, VSP_014483; Note=No experimental confirmation available.; Name=5; IsoId=Q7Z494-5; Sequence=VSP_014486, VSP_014487; Note=No experimental confirmation available.; Name=6; IsoId=Q7Z494-6; Sequence=VSP_014490, VSP_014491; Name=7; IsoId=Q7Z494-7; Sequence=VSP_014484, VSP_014485; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:20462968, ECO:0000269|PubMed:22085962}. Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.


uniprotID: Q86W24
geneSymbol: NLRP14
pdb: 4N1J;4N1K;4N1L;
length: 1093
go: ENSG00000158077;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q6B966}.
name:
NACHT, LRR and PYD domains-containing protein 14 (Nucleotide-binding oligomerization domain protein 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

snps:
rs11041150 rs12801277 rs61063081 rs199735773 rs16921697 rs117823353 rs368562565 rs76670455 rs147389856 rs11041151 rs1044378174 rs10839708 rs117124176 rs117583918 rs17280682 rs115776642 


uniprotID: Q5TEU4
geneSymbol: NDUFAF5
reactome: R-HSA-6799198;
length: 345
go: ENSG00000101247;
snps: rs267606689 rs118203929 rs757043077 rs6042368
name:
Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.-.-.-) (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5) (Putative methyltransferase NDUFAF5) (EC 2.1.1.-)

sequence:

opentargets:
extrinsic component of mitochondrial inner membrane [GO:0031314]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; methyltransferase activity [GO:0008168]; oxidoreductase activity [GO:0016491]; mitochondrial respiratory chain complex I assembly [GO:0032981]; peptidyl-arginine hydroxylation [GO:0030961]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TEU4-1; Sequence=Displayed; Name=2; IsoId=Q5TEU4-2; Sequence=VSP_028637; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:18940309, ECO:0000269|PubMed:27226634}. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane. {ECO:0000269|PubMed:18940309}.


uniprotID: Q6IN84
geneSymbol: MRM1
reactome: R-HSA-6793080;
length: 353
go: ENSG00000278619;
snps: rs60978234
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:24036117, ECO:0000269|PubMed:25009282}.
name:
rRNA methyltransferase 1, mitochondrial (EC 2.1.1.-) (16S rRNA (guanosine(1145)-2'-O)-methyltransferase) (16S rRNA [Gm1145] 2'-O-methyltransferase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; rRNA (guanosine-2'-O-)-methyltransferase activity [GO:0070039]; rRNA 2'-O-methylation [GO:0000451]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IN84-1; Sequence=Displayed; Name=2; IsoId=Q6IN84-2; Sequence=VSP_022494; 


uniprotID: Q96LB1
geneSymbol: MRGPRX2
name: Mas-related G-protein coupled receptor member X2
length: 330
go: ENSG00000183695;
snps: rs11024970 rs11823569 rs10833049 rs79763999
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; mast cell granule [GO:0042629]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; mast cell secretagogue receptor activity [GO:1990595]; neuropeptide binding [GO:0042923]; G protein-coupled receptor signaling pathway [GO:0007186]; mast cell activation [GO:0045576]; mast cell degranulation [GO:0043303]; positive regulation of cytokinesis [GO:0032467]; sensory perception of pain [GO:0019233]; sleep [GO:0030431]


uniprotID: Q9HC36
geneSymbol: MRM3
reactome: R-HSA-6793080;
length: 420
go: ENSG00000171861;
snps: rs2273454 rs2249542 rs17854653 rs35780267
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:24036117, ECO:0000269|PubMed:25009282}.
name:
rRNA methyltransferase 3, mitochondrial (EC 2.1.1.-) (16S rRNA (guanosine(1370)-2'-O)-methyltransferase) (16S rRNA [Gm1370] 2'-O-methyltransferase) (RNA methyltransferase-like protein 1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; rRNA (guanosine-2'-O-)-methyltransferase activity [GO:0070039]; rRNA 2'-O-methylation [GO:0000451]


uniprotID: P49959
geneSymbol: MRE11
pdb: 3T1I;
length: 708
go: ENSG00000020922;
snps: rs748434421 rs137852760 rs147771140 rs372000848 rs1805367 rs774057024 rs200085146 rs1805362
reactome:
R-HSA-1834949;R-HSA-2559586;R-HSA-3270619;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;

name:
Double-strand break repair protein MRE11 (EC 3.1.-.-) (Double-strand break repair protein MRE11A) (Meiotic recombination 11 homolog 1) (MRE11 homolog 1) (Meiotic recombination 11 homolog A) (MRE11 homolog A)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Mre11 complex [GO:0030870]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; site of double-strand break [GO:0035861]; 3'-5' exonuclease activity [GO:0008408]; 5'-3' exonuclease activity [GO:0008409]; cadherin binding [GO:0045296]; double-stranded DNA binding [GO:0003690]; double-stranded telomeric DNA binding [GO:0003691]; endodeoxyribonuclease activity [GO:0004520]; endonuclease activity [GO:0004519]; identical protein binding [GO:0042802]; manganese ion binding [GO:0030145]; nuclease activity [GO:0004518]; protein C-terminus binding [GO:0008022]; single-stranded DNA endodeoxyribonuclease activity [GO:0000014]; single-stranded telomeric DNA binding [GO:0043047]; base-excision repair [GO:0006284]; cell proliferation [GO:0008283]; cellular response to DNA damage stimulus [GO:0006974]; DNA double-strand break processing [GO:0000729]; DNA duplex unwinding [GO:0032508]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA strand resection involved in replication fork processing [GO:0110025]; 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]; intra-S DNA damage checkpoint [GO:0031573]; meiotic DNA double-strand break formation [GO:0042138]; mitochondrial double-strand break repair via homologous recombination [GO:0097552]; mitotic G2 DNA damage checkpoint [GO:0007095]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA endoreduplication [GO:0032876]; positive regulation of kinase activity [GO:0033674]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of telomere maintenance [GO:0032206]; positive regulation of type I interferon production [GO:0032481]; reciprocal meiotic recombination [GO:0007131]; regulation of mitotic recombination [GO:0000019]; sister chromatid cohesion [GO:0007062]; synapsis [GO:0007129]; telomere maintenance [GO:0000723]; telomere maintenance via telomerase [GO:0007004]; telomeric 3' overhang formation [GO:0031860]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P49959-1; Sequence=Displayed; Name=2; IsoId=P49959-2; Sequence=VSP_003262; Name=3; IsoId=P49959-3; Sequence=VSP_057350; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10783165, ECO:0000269|PubMed:26215093}. 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: O15259
geneSymbol: NPHP1
reactome: R-HSA-5620912;
pdb: 1S1N;
name: Nephrocystin-1 (Juvenile nephronophthisis 1 protein)
length: 732
go: ENSG00000144061;
snps: rs190983114 rs121907899
sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cell-cell junction [GO:0005911]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; membrane [GO:0016020]; motile cilium [GO:0031514]; photoreceptor connecting cilium [GO:0032391]; structural molecule activity [GO:0005198]; actin cytoskeleton organization [GO:0030036]; cell projection organization [GO:0030030]; cell-cell adhesion [GO:0098609]; ciliary basal body-plasma membrane docking [GO:0097711]; excretion [GO:0007588]; positive regulation of bicellular tight junction assembly [GO:1903348]; retina development in camera-type eye [GO:0060041]; signal transduction [GO:0007165]; spermatid differentiation [GO:0048515]; visual behavior [GO:0007632]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=NPHP1; IsoId=O15259-1; Sequence=Displayed; Name=2; Synonyms=NPHP1-8A; IsoId=O15259-2; Sequence=VSP_003424; Name=3; IsoId=O15259-3; Sequence=VSP_010073, VSP_010074; Note=No experimental confirmation available.; Name=4; IsoId=O15259-4; Sequence=VSP_024381; 

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000250}. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cell junction, tight junction. Note=Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme. Localized to the transition zone of respiratory cilia, photoreceptor-connecting cilia and renal monocilia. In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. {ECO:0000250}.


uniprotID: P0DI83
geneSymbol: RAB34
name: Ras-related protein Rab-34, isoform NARR (Nine amino-acid residue-repeats)
length: 198
go: ENSG00000109113;
opentargets: nucleolus [GO:0005730]
sequence:
MVGQPQPRDDVGSPRPRVIVGTIRPRVIVGTIRPRVIVGSARARPPPDGTPRPQLAAEESPRPRVIFGTPRARVILGSPRPRVIVSSPWPAVVVASPRPRTPVGSPWPRVVVGTPRPRVIVGSPRARVADADPASAPSQGALQGRRQDEHSGTRAEGSRPGGAAPVPEEGGRFARAQRLPPPRHLRLPGAPDRHRGQI

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=NARR; IsoId=P0DI83-1; Sequence=Displayed; Name=1; IsoId=Q9BZG1-1; Sequence=External; Name=2; IsoId=Q9BZG1-2; Sequence=External; Name=4; IsoId=Q9BZG1-4; Sequence=External; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21586586}. Nucleus, nucleolus {ECO:0000269|PubMed:21586586}. Note=Colocalizes with rDNA clusters.


uniprotID: Q13562
geneSymbol: NEUROD1
reactome: R-HSA-210745;R-HSA-210746;
length: 356
go: ENSG00000162992;
snps: rs1801262 rs763092306 rs104893649 rs8192556 rs786205158
name:
Neurogenic differentiation factor 1 (NeuroD) (NeuroD1) (Class A basic helix-loop-helix protein 3) (bHLHa3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; 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 heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II activating transcription factor binding [GO:0001102]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; amacrine cell differentiation [GO:0035881]; anterior/posterior pattern specification [GO:0009952]; cellular response to glucose stimulus [GO:0071333]; cerebellum development [GO:0021549]; dentate gyrus development [GO:0021542]; embryonic organ morphogenesis [GO:0048562]; endocrine pancreas development [GO:0031018]; enteroendocrine cell differentiation [GO:0035883]; glucose homeostasis [GO:0042593]; inner ear development [GO:0048839]; insulin secretion [GO:0030073]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of type B pancreatic cell apoptotic process [GO:2000675]; neurogenesis [GO:0022008]; neuron development [GO:0048666]; nitric oxide mediated signal transduction [GO:0007263]; nucleocytoplasmic transport [GO:0006913]; pancreatic A cell fate commitment [GO:0003326]; pancreatic PP cell fate commitment [GO:0003329]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell differentiation [GO:0045597]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell cycle arrest [GO:0071156]; regulation of insulin secretion [GO:0050796]; regulation of intestinal epithelial structure maintenance [GO:0060730]; response to drug [GO:0042493]; response to glucose [GO:0009749]; signal transduction involved in regulation of gene expression [GO:0023019]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:14752053}. Note=In pancreatic islet cells, shuttles to the nucleus in response to glucose stimulation (By similarity). Colocalizes with NR0B2 in the nucleus. {ECO:0000250}.


uniprotID: Q15784
geneSymbol: NEUROD2
length: 382
go: ENSG00000171532;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Neurogenic differentiation factor 2 (NeuroD2) (Class A basic helix-loop-helix protein 1) (bHLHa1) (NeuroD-related factor) (NDRF)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein heterodimerization activity [GO:0046982]; transcription corepressor activity [GO:0003714]; associative learning [GO:0008306]; behavioral fear response [GO:0001662]; cellular response to calcium ion [GO:0071277]; cellular response to electrical stimulus [GO:0071257]; cerebellar cortex development [GO:0021695]; negative regulation of synapse maturation [GO:2000297]; nervous system development [GO:0007399]; neuron development [GO:0048666]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of synapse maturation [GO:0090129]; positive regulation of synaptic plasticity [GO:0031915]; protein ubiquitination [GO:0016567]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: A6NGR9
geneSymbol: MROH6
name: Maestro heat-like repeat-containing protein family member 6
length: 719
go: ENSG00000204839;
snps: rs4873803 rs4874153 rs10866911 rs13255489
sequence:


uniprotID: P60323
geneSymbol: NANOS3
name: Nanos homolog 3 (NOS-3)
length: 173
go: ENSG00000187556;
sequence:
MGTFDLWTDYLGLAHLVRALSGKEGPETRLSPQPEPEPMLEPDQKRSLESSPAPERLCSFCKHNGESRAIYQSHVLKDEAGRVLCPILRDYVCPQCGATRERAHTRRFCPLTGQGYTSVYSHTTRNSAGKKLVRPDKAKTQDTGHRRGGGGGAGFRGAGKSEPSPSCSPSMST

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; nucleus [GO:0005634]; P-body [GO:0000932]; perinuclear region of cytoplasm [GO:0048471]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; germ cell development [GO:0007281]; multicellular organism development [GO:0007275]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of translation [GO:0017148]; oogenesis [GO:0048477]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; regulation of cell cycle [GO:0051726]; regulation of translation [GO:0006417]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P60323-1; Sequence=Displayed; Name=2; IsoId=P60323-2; Sequence=VSP_038695; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21421998}. Cytoplasm {ECO:0000269|PubMed:21421998}. Cytoplasm, Stress granule {ECO:0000250|UniProtKB:P60324}. Cytoplasm, P-body {ECO:0000250|UniProtKB:P60324}. Note=Co-localizes with PUM2, EIF2S1 and TIAL1 in the stress granules. Co-localizes with DCP1A in the P-body. {ECO:0000250|UniProtKB:P60324}.


uniprotID: Q6IQ20
geneSymbol: NAPEPLD
reactome: R-HSA-2466712;
pdb: 4QN9;
length: 393
go: ENSG00000161048;
snps: rs12540583 rs3181009
name:
N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D (N-acyl phosphatidylethanolamine phospholipase D) (NAPE-PLD) (NAPE-hydrolyzing phospholipase D) (EC 3.1.4.54)

sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane-bounded organelle [GO:0043227]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; photoreceptor outer segment membrane [GO:0042622]; identical protein binding [GO:0042802]; N-acetylphosphatidylethanolamine-hydrolysing phospholipas activity [GO:0102200]; N-acylphosphatidylethanolamine-specific phospholipase D activity [GO:0070290]; zinc ion binding [GO:0008270]; aging [GO:0007568]; host-mediated regulation of intestinal microbiota composition [GO:0048874]; N-acylethanolamine metabolic process [GO:0070291]; N-acylphosphatidylethanolamine metabolic process [GO:0070292]; negative regulation of eating behavior [GO:1903999]; phospholipid catabolic process [GO:0009395]; positive regulation of brown fat cell differentiation [GO:0090336]; positive regulation of inflammatory response [GO:0050729]; response to isolation stress [GO:0035900]; retinoid metabolic process [GO:0001523]; temperature homeostasis [GO:0001659]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:25684574}; Peripheral membrane protein {ECO:0000305|PubMed:25684574}. Early endosome membrane {ECO:0000269|PubMed:25684574}; Peripheral membrane protein {ECO:0000305|PubMed:25684574}. Nucleus envelope {ECO:0000269|PubMed:25684574}. Nucleus, nucleoplasm {ECO:0000269|PubMed:25684574}. Note=Localized in the proximity of the cellular membranes likely through interaction with membrane phopholipids. {ECO:0000269|PubMed:25684574}.


uniprotID: Q8N159
geneSymbol: NAGS
reactome: R-HSA-70635;
pdb: 4K30;
length: 534
go: ENSG00000161653;
drug: DB09326;DB00142;
snps: rs760267963 rs1251891037 rs1312599995 rs104894605 rs104894606 rs752415489 rs745511282
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:7126172}.
name:
N-acetylglutamate synthase, mitochondrial (EC 2.3.1.1) (Amino-acid acetyltransferase) [Cleaved into: N-acetylglutamate synthase long form; N-acetylglutamate synthase short form; N-acetylglutamate synthase conserved domain form]

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acetyl-CoA:L-glutamate N-acetyltransferase activity [GO:0004042]; arginine binding [GO:0034618]; methione N-acyltransferase activity [GO:0103045]; arginine biosynthetic process [GO:0006526]; glutamate metabolic process [GO:0006536]; phosphorylation [GO:0016310]; urea cycle [GO:0000050]


uniprotID: Q9BTE0
geneSymbol: NAT9
name: N-acetyltransferase 9 (EC 2.3.1.-) (Embryo brain-specific protein)
length: 207
go: ENSG00000109065;
snps: rs2305213
sequence:

opentargets:
protein-containing complex [GO:0032991]; transferase activity, transferring acyl groups other than amino-acyl groups [GO:0016747]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BTE0-1; Sequence=Displayed; Name=2; IsoId=Q9BTE0-2; Sequence=VSP_025231; 


uniprotID: Q7L1T6
geneSymbol: CYB5R4
reactome: R-HSA-1237044;
pdb: 3LF5;
length: 521
go: ENSG00000065615;
snps: rs61762820 rs143478181 rs141290525 rs61382555 rs10080628 rs10080628
name:
Cytochrome b5 reductase 4 (EC 1.6.2.2) (Flavohemoprotein b5/b5R) (b5+b5R) (N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein) (cb5/cb5R)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; perinuclear region of cytoplasm [GO:0048471]; cytochrome-b5 reductase activity, acting on NAD(P)H [GO:0004128]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; NAD(P)H oxidase activity [GO:0016174]; oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor [GO:0016653]; bicarbonate transport [GO:0015701]; cell development [GO:0048468]; detection of oxygen [GO:0003032]; generation of precursor metabolites and energy [GO:0006091]; glucose homeostasis [GO:0042593]; insulin secretion [GO:0030073]; oxidation-reduction process [GO:0055114]; response to antibiotic [GO:0046677]; superoxide metabolic process [GO:0006801]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:10611283, ECO:0000269|PubMed:15131110}. Note=Soluble protein.


uniprotID: P41271
geneSymbol: NBL1
pdb: 4X1J;4YU8;
length: 181
go: ENSG00000158747;
location: SUBCELLULAR LOCATION: Secreted.
name:
Neuroblastoma suppressor of tumorigenicity 1 (DAN domain family member 1) (Protein N03) (Zinc finger protein DAN)

sequence:
MMLRVLVGAVLPAMLLAAPPPINKLALFPDKSAWCEAKNITQIVGHSGCEAKSIQNRACLGQCFSYSVPNTFPQSTESLVHCDSCMPAQSMWEIVTLECPGHEEVPRVDKLVEKILHCSCQACGKEPSHEGLSVYVQGEDGPGSQPGTHPHPHPHPHPGGQTPEPEDPPGAPHTEEEGAED

opentargets:
extracellular space [GO:0005615]; BMP binding [GO:0036122]; morphogen activity [GO:0016015]; protein homodimerization activity [GO:0042803]; determination of dorsal identity [GO:0048263]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of monocyte chemotaxis [GO:0090027]; nervous system development [GO:0007399]; neuron projection morphogenesis [GO:0048812]; positive regulation of neuron differentiation [GO:0045666]; sequestering of BMP from receptor via BMP binding [GO:0038098]; sequestering of BMP in extracellular matrix [GO:0035582]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P41271-1; Sequence=Displayed; Name=2; IsoId=P41271-2; Sequence=VSP_036438; 


uniprotID: P19404
geneSymbol: NDUFV2
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 249
go: ENSG00000178127;
drug: DB00157;
snps: rs906807
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (NADH-ubiquinone oxidoreductase 24 kDa subunit)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; 2 iron, 2 sulfur cluster binding [GO:0051537]; electron transfer activity [GO:0009055]; metal ion binding [GO:0046872]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; cardiac muscle tissue development [GO:0048738]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; nervous system development [GO:0007399]


uniprotID: Q8IVL0
geneSymbol: NAV3
length: 2385
go: ENSG00000067798;
snps: rs10735309 rs34195711
location: SUBCELLULAR LOCATION: Nucleus outer membrane {ECO:0000250}.
name:
Neuron navigator 3 (Pore membrane and/or filament-interacting-like protein 1) (Steerin-3) (Unc-53 homolog 3) (unc53H3)

sequence:

opentargets:
nuclear outer membrane [GO:0005640]; ATP binding [GO:0005524]; microtubule binding [GO:0008017]; negative regulation of cell migration [GO:0030336]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of microtubule depolymerization [GO:0007026]; nervous system development [GO:0007399]; neurogenesis [GO:0022008]; positive regulation of invadopodium disassembly [GO:1905929]; positive regulation of microtubule polymerization [GO:0031116]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IVL0-1; Sequence=Displayed; Name=2; IsoId=Q8IVL0-2; Sequence=VSP_025269; Name=3; IsoId=Q8IVL0-3; Sequence=VSP_025268, VSP_025269; 


uniprotID: Q13232
geneSymbol: NME3
reactome: R-HSA-499943;
pdb: 1ZS6;
length: 169
go: ENSG00000103024;
name:
Nucleoside diphosphate kinase 3 (NDK 3) (NDP kinase 3) (EC 2.7.4.6) (DR-nm23) (Nucleoside diphosphate kinase C) (NDPKC) (nm23-H3)

sequence:
MICLVLTIFANLFPAACTGAHERTFLAVKPDGVQRRLVGEIVRRFERKGFKLVALKLVQASEELLREHYAELRERPFYGRLVKYMASGPVVAMVWQGLDVVRTSRALIGATNPADAPPGTIRGDFCIEVGKNLIHGSDSVESARREIALWFRADELLCWEDSAGHWLYE

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; nucleoside diphosphate kinase activity [GO:0004550]; apoptotic process [GO:0006915]; CTP biosynthetic process [GO:0006241]; GTP biosynthetic process [GO:0006183]; nucleobase-containing small molecule interconversion [GO:0015949]; UTP biosynthetic process [GO:0006228]


uniprotID: Q9UHB4
geneSymbol: NDOR1
reactome: R-HSA-2564830;
pdb: 4H2D;
length: 597
go: ENSG00000188566;
snps: rs62587579
name:
NADPH-dependent diflavin oxidoreductase 1 (EC 1.18.1.-) (NADPH-dependent FMN and FAD-containing oxidoreductase) (Novel reductase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intermediate filament cytoskeleton [GO:0045111]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; flavin adenine dinucleotide binding [GO:0050660]; FMN binding [GO:0010181]; NADP binding [GO:0050661]; NADPH-hemoprotein reductase activity [GO:0003958]; oxidoreductase activity [GO:0016491]; cell death [GO:0008219]; cellular response to menadione [GO:0036245]; iron-sulfur cluster assembly [GO:0016226]; oxidation-reduction process [GO:0055114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UHB4-1; Sequence=Displayed; Name=2; IsoId=Q9UHB4-2; Sequence=VSP_031487; Name=3; IsoId=Q9UHB4-3; Sequence=VSP_046313, VSP_046314; Note=No experimental confirmation available.; Name=4; IsoId=Q9UHB4-4; Sequence=VSP_053807; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000255|HAMAP-Rule:MF_03178, ECO:0000269|PubMed:10625700, ECO:0000269|PubMed:12871939}. Note=Concentrated in perinuclear structure. {ECO:0000255|HAMAP-Rule:MF_03178, ECO:0000269|PubMed:12871939}.


uniprotID: P0DPF2
geneSymbol: NBPF20
name: Neuroblastoma breakpoint family member 20
length: 5207
go: ENSG00000162825;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: P16333
geneSymbol: NCK1
pdb: 2CI8;2CI9;2CUB;2JS0;2JS2;2JW4;
name: Cytoplasmic protein NCK1 (NCK adaptor protein 1) (Nck-1) (SH2/SH3 adaptor protein NCK-alpha)
length: 377
go: ENSG00000158092;
snps: rs13320485
reactome:
R-HSA-186763;R-HSA-202433;R-HSA-2029482;R-HSA-373753;R-HSA-418885;R-HSA-428540;R-HSA-4420097;R-HSA-5663213;R-HSA-983695;

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein phosphatase type 1 complex [GO:0000164]; ribosome [GO:0005840]; vesicle membrane [GO:0012506]; cadherin binding [GO:0045296]; cytoskeletal adaptor activity [GO:0008093]; ephrin receptor binding [GO:0046875]; eukaryotic initiation factor eIF2 binding [GO:0071074]; molecular adaptor activity [GO:0060090]; protein binding, bridging [GO:0030674]; protein domain specific binding [GO:0019904]; protein kinase inhibitor activity [GO:0004860]; receptor signaling complex scaffold activity [GO:0030159]; receptor tyrosine kinase binding [GO:0030971]; SH3/SH2 adaptor activity [GO:0005070]; signaling receptor binding [GO:0005102]; actin filament organization [GO:0007015]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; lamellipodium assembly [GO:0030032]; negative regulation of cell death [GO:0060548]; negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation [GO:1903912]; negative regulation of insulin receptor signaling pathway [GO:0046627]; 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]; peptidyl-serine dephosphorylation [GO:0070262]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cap-dependent translational initiation [GO:1903676]; positive regulation of cap-independent translational initiation [GO:1903679]; positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902237]; positive regulation of neuron projection development [GO:0010976]; 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 cell migration [GO:0030334]; response to other organism [GO:0051707]; signal complex assembly [GO:0007172]; substrate-dependent cell migration, cell extension [GO:0006930]; T cell activation [GO:0042110]; T cell receptor signaling pathway [GO:0050852]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P16333-1; Sequence=Displayed; Name=2; IsoId=P16333-2; Sequence=VSP_043122; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Endoplasmic reticulum. Nucleus. Note=Mostly cytoplasmic, but shuttles between the cytoplasm and the nucleus. Import into the nucleus requires the interaction with SOCS7. Predominantly nuclear following genotoxic stresses, such as UV irradiation, hydroxyurea or mitomycin C treatments.


uniprotID: Q5QGS0
geneSymbol: NEXMIF
name: Neurite extension and migration factor (XLMR protein related to neurite extension) (XPN)
length: 1516
go: ENSG00000050030;
snps: rs12851763
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; negative regulation of cell adhesion mediated by integrin [GO:0033629]; negative regulation of cell-cell adhesion mediated by cadherin [GO:2000048]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of neuron migration [GO:2001223]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24071057}. Cytoplasm {ECO:0000250|UniProtKB:Q5DTT1}.


uniprotID: O95168
geneSymbol: NDUFB4
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 129
go: ENSG00000065518;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 (Complex I-B15) (CI-B15) (NADH-ubiquinone oxidoreductase B15 subunit)

sequence:
MSFPKYKPSSLRTLPETLDPAEYNISPETRRAQAERLAIRAQLKREYLLQYNDPNRRGLIENPALLRWAYARTINVYPNFRPTPKNSLMGALCGFGPLIFIYYIIKTERDRKEKLIQEGKLDRTFHLSY

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; nuclear membrane [GO:0031965]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95168-1; Sequence=Displayed; Name=2; IsoId=O95168-2; Sequence=VSP_042719; Note=No experimental confirmation available.; 

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


uniprotID: O60524
geneSymbol: NEMF
pdb: 3J92;
length: 1076
go: ENSG00000165525;
snps: rs3100906
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Nuclear export mediator factor NEMF (Antigen NY-CO-1) (Serologically defined colon cancer antigen 1)

sequence:

opentargets:
nucleus [GO:0005634]; RQC complex [GO:1990112]; ribosomal large subunit binding [GO:0043023]; tRNA binding [GO:0000049]; nuclear export [GO:0051168]; rescue of stalled ribosome [GO:0072344]; ribosome-associated ubiquitin-dependent protein catabolic process [GO:1990116]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O60524-1; Sequence=Displayed; Name=2; IsoId=O60524-2; Sequence=VSP_008396, VSP_010462; Name=3; IsoId=O60524-3; Sequence=VSP_041066; Name=4; IsoId=O60524-4; Sequence=VSP_041064; Name=5; IsoId=O60524-5; Sequence=VSP_041065; Note=No experimental confirmation available.; 


uniprotID: P51957
geneSymbol: NEK4
length: 841
go: ENSG00000114904;
snps: rs1029871 rs35778416 rs56408749 rs2230537 rs56019351 rs34986855
name:
Serine/threonine-protein kinase Nek4 (EC 2.7.11.1) (Never in mitosis A-related kinase 4) (NimA-related protein kinase 4) (Serine/threonine-protein kinase 2) (Serine/threonine-protein kinase NRK2)

sequence:

opentargets:
ciliary basal body [GO:0036064]; ciliary plasm [GO:0097014]; ciliary rootlet [GO:0035253]; ciliary transition zone [GO:0035869]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; manganese ion binding [GO:0030145]; protein serine/threonine kinase activity [GO:0004674]; activation of protein kinase activity [GO:0032147]; cell division [GO:0051301]; cellular response to DNA damage stimulus [GO:0006974]; mitotic cell cycle [GO:0000278]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; regulation of cellular senescence [GO:2000772]; regulation of replicative cell aging [GO:1900062]; regulation of response to DNA damage stimulus [GO:2001020]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51957-1; Sequence=Displayed; Name=2; IsoId=P51957-2; Sequence=VSP_037123, VSP_037124; Note=No experimental confirmation available.; Name=3; IsoId=P51957-3; Sequence=VSP_043334; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:21685204}. Cytoplasm {ECO:0000269|PubMed:21685204}.


uniprotID: Q92686
geneSymbol: NRGN
name: Neurogranin (Ng) (RC3) [Cleaved into: NEUG(55-78)]
sequence: MDCCTENACSKPDDDILDIPLDDPGANAAAAKIQASFRGHMARKKIKSGERGRKGPGPGGPGGAGVARGGAGGGPSGD
length: 78
go: ENSG00000154146;
opentargets:
axon [GO:0030424]; dendritic spine head [GO:0044327]; glutamatergic synapse [GO:0098978]; mitochondrial membrane [GO:0031966]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; trans-Golgi network transport vesicle membrane [GO:0012510]; calmodulin binding [GO:0005516]; phosphatidic acid binding [GO:0070300]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; associative learning [GO:0008306]; nervous system development [GO:0007399]; positive regulation of long-term synaptic potentiation [GO:1900273]; postsynaptic modulation of chemical synaptic transmission [GO:0099170]; signal transduction [GO:0007165]; telencephalon development [GO:0021537]


uniprotID: Q9BU61
geneSymbol: NDUFAF3
reactome: R-HSA-6799198;
name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
length: 184
go: ENSG00000178057;
snps: rs121918134 rs121918135
sequence:
MATALALRSLYRARPSLRCPPVELPWAPRRGHRLSPADDELYQRTRISLLQREAAQAMYIDSYNSRGFMINGNRVLGPCALLPHSVVQWNVGSHQDITEDSFSLFWLLEPRIEIVVVGTGDRTERLQSQVLQAMRQRGIAVEVQDTPNACATFNFLCHEGRVTGAALIPPPGGTSLTSLGQAAQ

opentargets:
mitochondrial inner membrane [GO:0005743]; nucleus [GO:0005634]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=a; IsoId=Q9BU61-1; Sequence=Displayed; Name=b; IsoId=Q9BU61-2; Sequence=VSP_041086; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Mitochondrion inner membrane {ECO:0000269|PubMed:19463981}.


uniprotID: P52849
geneSymbol: NDST2
reactome: R-HSA-2022928;
length: 883
go: ENSG00000166507;
name:
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 (EC 2.8.2.8) (Glucosaminyl N-deacetylase/N-sulfotransferase 2) (NDST-2) (N-heparan sulfate sulfotransferase 2) (N-HSST 2) [Includes: Heparan sulfate N-deacetylase 2 (EC 3.-.-.-); Heparan sulfate N-sulfotransferase 2 (EC 2.8.2.-)]

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; [heparan sulfate]-glucosamine N-sulfotransferase activity [GO:0015016]; N-acetylglucosamine deacetylase activity [GO:0050119]; glycosaminoglycan biosynthetic process [GO:0006024]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; heparin biosynthetic process [GO:0030210]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52849-1; Sequence=Displayed; Name=2; IsoId=P52849-2; Sequence=VSP_017403, VSP_017404; Note=No experimental confirmation available.; 


uniprotID: O43677
geneSymbol: NDUFC1
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
sequence: MAPSALLRPLSRLLAPARLPSGPSVRSKFYVREPPNAKPDWLKVGFTLGTTVFLWIYLIKQHNEDILEYKRRNGLE
length: 76
go: ENSG00000109390;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial (Complex I-KFYI) (CI-KFYI) (NADH-ubiquinone oxidoreductase KFYI 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:0000250|UniProtKB:Q02376}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q02376}; Matrix side {ECO:0000250|UniProtKB:Q02376}.


uniprotID: Q9H2A3
geneSymbol: NEUROG2
name: Neurogenin-2 (NGN-2) (Class A basic helix-loop-helix protein 8) (bHLHa8) (Protein atonal homolog 4)
length: 272
go: ENSG00000178403;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein dimerization activity [GO:0046983]; neuron differentiation [GO:0030182]; positive regulation of DNA-binding transcription factor activity [GO:0051091]


uniprotID: Q9NX14
geneSymbol: NDUFB11
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 153
go: ENSG00000147123;
snps: rs1057519073
name:
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (Complex I-ESSS) (CI-ESSS) (NADH-ubiquinone oxidoreductase ESSS subunit) (Neuronal protein 17.3) (Np17.3) (p17.3)

sequence:
MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVAGKRPPEPTTPWQEDPEPEDENLYEKNPDSHGYDKDPVLDVWNMRLVFFFGVSIILVLGSTFVAYLPDYRMKEWSRREAERLVKYREANGLPIMESNCFDPSKIQLPEDE

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=Q9NX14-1; Sequence=Displayed; Name=2; IsoId=Q9NX14-2; Sequence=VSP_018251; 

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


uniprotID: Q8NI08
geneSymbol: NCOA7
length: 942
go: ENSG00000111912;
snps: rs6919947 rs35223550 rs1567
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Nuclear receptor coactivator 7 (140 kDa estrogen receptor-associated protein) (Estrogen nuclear receptor coactivator 1)

sequence:

opentargets:
intracellular [GO:0005622]; nucleus [GO:0005634]; nuclear hormone receptor binding [GO:0035257]; nuclear receptor transcription coactivator activity [GO:0030374]; negative regulation of oxidative stress-induced neuron death [GO:1903204]; negative regulation of peptidyl-cysteine S-nitrosylation [GO:1902083]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q8NI08-1; Sequence=Displayed; Name=2; IsoId=Q8NI08-2; Sequence=VSP_019638; Note=No experimental confirmation available.; Name=3; IsoId=Q8NI08-3; Sequence=VSP_019637; Note=No experimental confirmation available.; Name=4; IsoId=Q8NI08-4; Sequence=VSP_019635, VSP_019636; Note=No experimental confirmation available.; Name=5; IsoId=Q8NI08-5; Sequence=VSP_019632, VSP_019639; Note=No experimental confirmation available.; Name=6; IsoId=Q8NI08-6; Sequence=VSP_019633, VSP_019634; Note=No experimental confirmation available.; Name=7; IsoId=Q8NI08-7; Sequence=VSP_044859, VSP_019638; Note=No experimental confirmation available.; 


uniprotID: Q9BT67
geneSymbol: NDFIP1
length: 221
go: ENSG00000131507;
name:
NEDD4 family-interacting protein 1 (Breast cancer-associated protein SGA-1M) (NEDD4 WW domain-binding protein 5) (Putative MAPK-activating protein PM13) (Putative NF-kappa-B-activating protein 164) (Putative NFKB and MAPK-activating protein)

sequence:

opentargets:
cell cortex [GO:0005938]; cell junction [GO:0030054]; dendrite [GO:0030425]; endosome membrane [GO:0010008]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; synapse [GO:0045202]; WW domain binding [GO:0050699]; cellular iron ion homeostasis [GO:0006879]; metal ion transport [GO:0030001]; negative regulation of gene expression [GO:0010629]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-4 production [GO:0032713]; negative regulation of isotype switching to IgE isotypes [GO:0048294]; negative regulation of protein transport [GO:0051224]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of transporter activity [GO:0032410]; negative regulation of type 2 immune response [GO:0002829]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein ubiquitination [GO:0031398]; regulation of isotype switching to IgG isotypes [GO:0048302]; regulation of lymphocyte differentiation [GO:0045619]; regulation of myeloid leukocyte differentiation [GO:0002761]; vacuolar transport [GO:0007034]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BT67-1; Sequence=Displayed; Name=2; IsoId=Q9BT67-2; Sequence=VSP_016474, VSP_016475; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:20534535}; Multi-pass membrane protein {ECO:0000269|PubMed:20534535}. Golgi apparatus membrane {ECO:0000269|PubMed:26363003}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q8R0W6}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q5U2S1}. Secreted {ECO:0000269|PubMed:18819914}. Note=Detected in exosomes and secreted via the exosomal pathway (PubMed:18819914).


uniprotID: Q7Z3B1
geneSymbol: NEGR1
reactome: R-HSA-163125;
name: Neuronal growth regulator 1 (IgLON family member 4)
length: 354
go: ENSG00000172260;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; cell-cell adhesion [GO:0098609]; feeding behavior [GO:0007631]; locomotory behavior [GO:0007626]; positive regulation of neuron projection development [GO:0010976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z3B1-1; Sequence=Displayed; Name=2; IsoId=Q7Z3B1-2; Sequence=VSP_056313; Note=No experimental confirmation available.; 


uniprotID: Q96FI4
geneSymbol: NEIL1
reactome: R-HSA-110328;R-HSA-110329;R-HSA-5649702;
pdb: 1TDH;4NRV;5ITQ;5ITR;5ITT;5ITU;5ITX;5ITY;
length: 390
go: ENSG00000140398;
drug: DB03754;
snps: rs5745905 rs5745906 rs5745907 rs769880000 rs749636951 rs7183491 rs5745926
name:
Endonuclease 8-like 1 (EC 3.2.2.-) (EC 4.2.99.18) (DNA glycosylase/AP lyase Neil1) (DNA-(apurinic or apyrimidinic site) lyase Neil1) (Endonuclease VIII-like 1) (FPG1) (Nei homolog 1) (NEH1) (Nei-like protein 1)

sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; class I DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0140078]; damaged DNA binding [GO:0003684]; DNA N-glycosylase activity [GO:0019104]; DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0003906]; hydrolase activity, acting on glycosyl bonds [GO:0016798]; protein C-terminus binding [GO:0008022]; zinc ion binding [GO:0008270]; base-excision repair [GO:0006284]; depyrimidination [GO:0045008]; negative regulation of nuclease activity [GO:0032074]; nucleotide-excision repair [GO:0006289]; response to oxidative stress [GO:0006979]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17556049}. Nucleus {ECO:0000269|PubMed:17556049}. Chromosome {ECO:0000269|PubMed:17556049}. Note=During mitosis, associates with centrosomes and condensed chromatin.


uniprotID: Q99608
geneSymbol: NDN
reactome: R-HSA-6785807;
name: Necdin
length: 321
go: ENSG00000182636;
snps: rs114077338
sequence:

opentargets:
cell projection [GO:0042995]; centrosome [GO:0005813]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; perikaryon [GO:0043204]; gamma-tubulin binding [GO:0043015]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; axon extension [GO:0048675]; axonal fasciculation [GO:0007413]; central nervous system development [GO:0007417]; cytokine-mediated signaling pathway [GO:0019221]; genetic imprinting [GO:0071514]; glial cell migration [GO:0008347]; multicellular organismal homeostasis [GO:0048871]; negative regulation of cell proliferation [GO:0008285]; nervous system development [GO:0007399]; neuron migration [GO:0001764]; neurotrophin TRK receptor signaling pathway [GO:0048011]; post-embryonic development [GO:0009791]; regulation of growth [GO:0040008]; respiratory system process [GO:0003016]; sensory perception of pain [GO:0019233]

location:
SUBCELLULAR LOCATION: Perikaryon. Nucleus. Note=Neural perikarya, translocates to the nucleus of postmitotic neurons and interacts with the nuclear matrix.


uniprotID: O14524
geneSymbol: NEMP1
name: Nuclear envelope integral membrane protein 1
length: 444
go: ENSG00000166881;
snps: rs17546579
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14524-1; Sequence=Displayed; Name=2; IsoId=O14524-2; Sequence=VSP_011896; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000250|UniProtKB:Q6ZQE4}; Multi-pass membrane protein {ECO:0000255}; Nucleoplasmic side {ECO:0000250|UniProtKB:B9X187}. Nucleus envelope {ECO:0000250|UniProtKB:Q6ZQE4}. Note=Colocalizes with lamins and RAN-GTP at the nuclear envelope. {ECO:0000250|UniProtKB:Q6ZQE4}.


uniprotID: Q9ULP0
geneSymbol: NDRG4
length: 352
go: ENSG00000103034;
name:
Protein NDRG4 (Brain development-related molecule 1) (N-myc downstream-regulated gene 4 protein) (Vascular smooth muscle cell-associated protein 8) (SMAP-8)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell projection membrane [GO:0031253]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; mitochondrion [GO:0005739]; brain development [GO:0007420]; cardiac muscle cell proliferation [GO:0060038]; cell differentiation [GO:0030154]; cell migration involved in heart development [GO:0060973]; embryonic heart tube development [GO:0035050]; heart looping [GO:0001947]; negative regulation of platelet-derived growth factor receptor signaling pathway [GO:0010642]; negative regulation of smooth muscle cell migration [GO:0014912]; negative regulation of smooth muscle cell proliferation [GO:0048662]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of neuron projection development [GO:0010976]; regulation of endocytic recycling [GO:2001135]; signal transduction [GO:0007165]; vesicle docking [GO:0048278]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=NDRG4-BVar; IsoId=Q9ULP0-1; Sequence=Displayed; Name=2; Synonyms=NDRG4-B; IsoId=Q9ULP0-2; Sequence=VSP_003422; Name=3; Synonyms=NDRG4-H; IsoId=Q9ULP0-3; Sequence=VSP_003421, VSP_003422; Name=4; IsoId=Q9ULP0-4; Sequence=VSP_003423; Name=5; IsoId=Q9ULP0-5; Sequence=VSP_022957, VSP_003422; Name=6; IsoId=Q9ULP0-6; Sequence=VSP_022956, VSP_003422; Name=7; IsoId=Q9ULP0-7; Sequence=VSP_045830, VSP_003422; Note=No experimental confirmation available.; Name=8; IsoId=Q9ULP0-8; Sequence=VSP_046326, VSP_003422; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:12755708, ECO:0000269|PubMed:19592488}.


uniprotID: Q9UI09
geneSymbol: NDUFA12
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 145
go: ENSG00000184752;
drug: DB00157;
snps: rs17850017
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 (13 kDa differentiation-associated protein) (Complex I-B17.2) (CI-B17.2) (CIB17.2) (NADH-ubiquinone oxidoreductase subunit B17.2)

sequence:
MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKVGTLVGEDKYGNKYYEDNKQFFGRHRWVVYTTEMNGKNTFWDVDGSMVPPEWHRWLHSMTDDPPTTKPLTARKFIWTNHKFNVTGTPEQYVPYSTTRKKIQEWIPPSTPYK

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; electron transfer activity [GO:0009055]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial ATP synthesis coupled electron transport [GO:0042775]; mitochondrial respiratory chain complex I assembly [GO:0032981]; respiratory gaseous exchange [GO:0007585]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UI09-1; Sequence=Displayed; Name=2; IsoId=Q9UI09-2; Sequence=VSP_046948; Note=No experimental confirmation available. Gene prediction based on EST data.; 

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


uniprotID: E9PQ53
geneSymbol: NDUFC2-KCTD14
length: 114
go: ENSG00000259112;
name:
NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 (NDUFC2-KCTD14 readthrough transcript protein)

sequence:
MIARRNPEPLRFLPDEARSLPPPKLTDPRLLYIGFLGYCSGLIDNLIRRRPIATAGLHRQLLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPEEDVYCCGAERRG

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; respiratory chain [GO:0070469]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=NDUFC2-KCTD14; IsoId=E9PQ53-1; Sequence=Displayed; Note=Based on a readthrough transcript which may produce a NDUFC2-KCTD14 fusion protein. No experimental confirmation available.; Name=1; IsoId=Q9BQ13-1; Sequence=External; Name=3; IsoId=O95298-1; Sequence=External; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}; Matrix side {ECO:0000250}.


uniprotID: A6NFY4
geneSymbol: NEMP2
name: Nuclear envelope integral membrane protein 2
length: 417
go: ENSG00000189362;
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NFY4-1; Sequence=Displayed; Name=2; IsoId=A6NFY4-2; Sequence=VSP_056847, VSP_056848, VSP_056849; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000250|UniProtKB:Q6ZQE4}; Multi-pass membrane protein {ECO:0000255}; Nucleoplasmic side {ECO:0000250|UniProtKB:B9X187}.


uniprotID: O95299
geneSymbol: NDUFA10
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 355
go: ENSG00000130414;
drug: DB00157;
snps: rs11541494 rs387906873
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:12611891}.
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial (Complex I-42kD) (CI-42kD) (NADH-ubiquinone oxidoreductase 42 kDa subunit)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; 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=O95299-1; Sequence=Displayed; Name=2; IsoId=O95299-2; Sequence=VSP_056417, VSP_056418, VSP_056419; 


uniprotID: Q8N9A8
geneSymbol: CNEP1R1
reactome: R-HSA-4419969;
name: Nuclear envelope phosphatase-regulatory subunit 1 (NEP1-R1) (Transmembrane protein 188)
length: 125
go: ENSG00000205423;
sequence:
MNSLEQAEDLKAFERRLTEYIHCLQPATGRWRMLLIVVSVCTATGAWNWLIDPETQKVSFFTSLWNHPFFTISCITLIGLFFAGIHKRVVAPSIIAARCRTVLAEYNMSCDDTGKLILKPRPHVQ

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; Nem1-Spo7 phosphatase complex [GO:0071595]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; lipid metabolic process [GO:0006629]; mitotic nuclear envelope disassembly [GO:0007077]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of triglyceride biosynthetic process [GO:0010867]; protein localization to nucleus [GO:0034504]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N9A8-1; Sequence=Displayed; Name=2; IsoId=Q8N9A8-2; Sequence=VSP_025126; Name=3; IsoId=Q8N9A8-3; Sequence=VSP_025127, VSP_025128; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:22134922}; Multi-pass membrane protein {ECO:0000269|PubMed:22134922}. Cytoplasm {ECO:0000269|PubMed:22134922}. Note=Filamentous pattern in the cytoplasm.


uniprotID: Q96IV0
geneSymbol: NGLY1
reactome: R-HSA-532668;
pdb: 2CCQ;2CM0;
length: 654
go: ENSG00000151092;
snps: rs7621398 rs7635089
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15358861}.
name:
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (PNGase) (hPNGase) (EC 3.5.1.52) (N-glycanase 1) (Peptide:N-glycanase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity [GO:0000224]; glycoprotein catabolic process [GO:0006516]; protein deglycosylation [GO:0006517]; protein folding [GO:0006457]; protein quality control for misfolded or incompletely synthesized proteins [GO:0006515]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96IV0-1; Sequence=Displayed; Name=2; IsoId=Q96IV0-2; Sequence=VSP_020344; Note=No experimental confirmation available.; Name=3; IsoId=Q96IV0-3; Sequence=VSP_020345, VSP_020346; Note=No experimental confirmation available.; Name=4; IsoId=Q96IV0-4; Sequence=VSP_020343; Note=No experimental confirmation available.; Name=5; IsoId=Q96IV0-5; Sequence=VSP_043501; Note=No experimental confirmation available.; 


uniprotID: O60721
geneSymbol: SLC24A1
reactome: R-HSA-2485179;R-HSA-425561;R-HSA-5619077;
length: 1099
go: ENSG00000074621;
snps: rs3743171 rs34363823 rs35571449
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium/potassium/calcium exchanger 1 (Na(+)/K(+)/Ca(2+)-exchange protein 1) (Retinal rod Na-Ca+K exchanger) (Solute carrier family 24 member 1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; outer membrane [GO:0019867]; 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]; calcium ion transport [GO:0006816]; cellular calcium ion homeostasis [GO:0006874]; ion transport [GO:0006811]; long-term synaptic depression [GO:0060292]; long-term synaptic potentiation [GO:0060291]; response to light intensity [GO:0009642]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60721-1; Sequence=Displayed; Name=2; IsoId=O60721-2; Sequence=VSP_006160; Note=No experimental confirmation available.; Name=3; IsoId=O60721-3; Sequence=VSP_054491; Note=No experimental confirmation available.; 


uniprotID: Q99435
geneSymbol: NELL2
reactome: R-HSA-428542;
name: Protein kinase C-binding protein NELL2 (NEL-like protein 2) (Nel-related protein 2)
length: 816
go: ENSG00000184613;
snps: rs2658973 rs17574839 rs1050710
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q62918}.
sequence:

opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; neuron cellular homeostasis [GO:0070050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q99435-1; Sequence=Displayed; Name=2; IsoId=Q99435-2; Sequence=VSP_043801; Note=No experimental confirmation available.; Name=3; IsoId=Q99435-3; Sequence=VSP_043802; Note=No experimental confirmation available.; Name=4; IsoId=Q99435-4; Sequence=VSP_043869; 


uniprotID: Q6PIU2
geneSymbol: NCEH1
reactome: R-HSA-8964038;
name: Neutral cholesterol ester hydrolase 1 (NCEH) (EC 3.1.1.-) (Arylacetamide deacetylase-like 1)
length: 408
go: ENSG00000144959;
snps: rs35316420 rs2302815 rs17857335
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; sterol esterase activity [GO:0004771]; lipid catabolic process [GO:0016042]; low-density lipoprotein particle clearance [GO:0034383]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PIU2-1; Sequence=Displayed; Name=2; IsoId=Q6PIU2-2; Sequence=VSP_037519; Name=3; IsoId=Q6PIU2-3; Sequence=VSP_037518; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305|PubMed:12149457}; Single-pass type II membrane protein {ECO:0000305|PubMed:12149457}. Microsome {ECO:0000250}.


uniprotID: Q9Y6K9
geneSymbol: IKBKG
pdb: 2JVX;2JVY;3BRT;3BRV;3CL3;3FX0;4BWN;5AAY;5LDE;
length: 419
go: ENSG00000269335;
drug: DB04998;DB05289;
reactome:
R-HSA-1169091;R-HSA-1236974;R-HSA-168638;R-HSA-168927;R-HSA-1810476;R-HSA-202424;R-HSA-2871837;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-4755510;R-HSA-5357905;R-HSA-5357956;R-HSA-5602636;R-HSA-5603027;R-HSA-5603029;R-HSA-5607764;R-HSA-5684264;R-HSA-5689880;R-HSA-5689896;R-HSA-9020702;R-HSA-933542;R-HSA-933543;R-HSA-937039;R-HSA-937041;R-HSA-975144;

name:
NF-kappa-B essential modulator (NEMO) (FIP-3) (IkB kinase-associated protein 1) (IKKAP1) (Inhibitor of nuclear factor kappa-B kinase subunit gamma) (I-kappa-B kinase subunit gamma) (IKK-gamma) (IKKG) (IkB kinase subunit gamma) (NF-kappa-B essential modifier)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; IkappaB kinase complex [GO:0008385]; intracellular [GO:0005622]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle pole [GO:0000922]; ubiquitin ligase complex [GO:0000151]; identical protein binding [GO:0042802]; K63-linked polyubiquitin modification-dependent protein binding [GO:0070530]; linear polyubiquitin binding [GO:1990450]; metal ion binding [GO:0046872]; peroxisome proliferator activated receptor binding [GO:0042975]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; ubiquitin protein ligase binding [GO:0031625]; activation of MAPK activity [GO:0000187]; anoikis [GO:0043276]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; apoptotic process [GO:0006915]; cellular response to DNA damage stimulus [GO:0006974]; establishment of vesicle localization [GO:0051650]; Fc-epsilon receptor signaling pathway [GO:0038095]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1-mediated signaling pathway [GO:0070498]; JNK cascade [GO:0007254]; MyD88-independent toll-like receptor signaling pathway [GO:0002756]; negative regulation of neuron death [GO:1901215]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of macroautophagy [GO:0016239]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; response to virus [GO:0009615]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; stress-activated MAPK cascade [GO:0051403]; T cell receptor signaling pathway [GO:0050852]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; viral process [GO:0016032]

snps:
rs148695964 rs179363896 rs179363895 rs137853328 rs179363866 rs179363868 rs1198984417 rs179363869 rs137853330 rs179363867 rs137853331 rs137853332 rs179363865 rs137853327 rs137853322 rs137853326 rs137853325 rs137853326 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y6K9-1; Sequence=Displayed; Name=2; IsoId=Q9Y6K9-2; Sequence=VSP_041000; Name=3; IsoId=Q9Y6K9-3; Sequence=VSP_041001, VSP_041002; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14651848}. Nucleus {ECO:0000269|PubMed:14651848}. Note=Sumoylated NEMO accumulates in the nucleus in response to genotoxic stress.


uniprotID: Q9Y618
geneSymbol: NCOR2
pdb: 1KKQ;1R2B;1XC5;2GPV;2L5G;2LTP;2ODD;2RT5;3R29;3R2A;4A69;4OAR;5X8Q;5X8X;
length: 2514
go: ENSG00000196498;
snps: rs7978237 rs2229840 rs2230944
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-1989781;R-HSA-2122947;R-HSA-2173795;R-HSA-2644606;R-HSA-2894862;R-HSA-3214815;R-HSA-381340;R-HSA-3899300;R-HSA-400206;

name:
Nuclear receptor corepressor 2 (N-CoR2) (CTG repeat protein 26) (SMAP270) (Silencing mediator of retinoic acid and thyroid hormone receptor) (SMRT) (T3 receptor-associating factor) (TRAC) (Thyroid-, retinoic-acid-receptor-associated corepressor)

sequence:

opentargets:
histone deacetylase complex [GO:0000118]; membrane [GO:0016020]; nuclear body [GO:0016604]; nuclear chromatin [GO:0000790]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; Notch binding [GO:0005112]; nuclear hormone receptor binding [GO:0035257]; protein N-terminus binding [GO:0047485]; RNA polymerase II regulatory region DNA binding [GO:0001012]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903799]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter [GO:0072365]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=SMRT-alpha {ECO:0000303|PubMed:15632172}, TRAC-2, h-SMRT; IsoId=Q9Y618-1; Sequence=Displayed; Name=2; Synonyms=TRAC-1; IsoId=Q9Y618-2; Sequence=VSP_003412, VSP_003413; Note=Contains only the C-terminal receptor-interacting domain and acts as an antirepressor.; Name=3; Synonyms=SMRTe; IsoId=Q9Y618-4; Sequence=VSP_036595; Name=4; Synonyms=SMRT-tau {ECO:0000303|PubMed:15632172}; IsoId=Q9Y618-5; Sequence=VSP_036595, VSP_003413; 


uniprotID: Q6NW34
geneSymbol: NEPRO
name: Nucleolus and neural progenitor protein
length: 567
go: ENSG00000163608;
snps: rs2291465 rs2306858 rs2306857 rs3732813 rs7628368
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; negative regulation of neuron differentiation [GO:0045665]; positive regulation of Notch signaling pathway [GO:0045747]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NW34-1; Sequence=Displayed; Name=2; IsoId=Q6NW34-2; Sequence=VSP_017342, VSP_017343; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8R2U2}. Nucleus, nucleolus {ECO:0000250|UniProtKB:Q8R2U2}.


uniprotID: Q86UQ8
geneSymbol: NFE4
name: Transcription factor NF-E4
length: 179
snps: rs6465886 rs2228687
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MPRVVCWHTLKSLNGYKNLSSGAETREGLRSSSPVDLPLRPRKQATAAGQRKLLSLQLLLCACTSVTDLTYWGPAGHGATAPHRSLLAIHLHLVPASSAAMKATGPHNAQTQVNPQGHAPSAEDPTGTWTVSGPCKDHPHPFLSQSNPPTRISSALPLKTDSALEQTPQQLPSLHLSQG

opentargets:
nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA-binding transcription factor activity [GO:0003700]; protein homodimerization activity [GO:0042803]; proximal promoter sequence-specific DNA binding [GO:0000987]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein-containing complex assembly [GO:0065003]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; Synonyms=p22 NF-E4; IsoId=Q86UQ8-1; Sequence=Displayed; Name=2; Synonyms=p14 NF-E4; IsoId=Q86UQ8-2; Sequence=VSP_035468; 


