# annotation

uniprotID: Q14003
geneSymbol: KCNC3
reactome: R-HSA-1296072;
length: 757
go: ENSG00000131398;
drug: DB06637;
name:
Potassium voltage-gated channel subfamily C member 3 (KSHIIID) (Voltage-gated potassium channel subunit Kv3.3)

sequence:

opentargets:
axon [GO:0030424]; cell cortex [GO:0005938]; cell junction [GO:0030054]; cytoskeleton [GO:0005856]; dendrite membrane [GO:0032590]; dendritic spine membrane [GO:0032591]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; neuronal cell body membrane [GO:0032809]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; protein homooligomerization [GO:0051260]; protein tetramerization [GO:0051262]; regulation of ion transmembrane transport [GO:0034765]

snps:
rs185017345 rs375912738 rs769502387 rs104894699 rs797044872 rs104894700 rs148033381 rs549394447 rs778523009 rs1460306526 rs958323371 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10712820, ECO:0000269|PubMed:16501573, ECO:0000269|PubMed:19953606, ECO:0000269|PubMed:21479265, ECO:0000269|PubMed:22289912, ECO:0000269|PubMed:23734863, ECO:0000269|PubMed:25152487, ECO:0000269|PubMed:25756792, ECO:0000269|PubMed:26997484}; Multi-pass membrane protein {ECO:0000255}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:Q63959}; Multi-pass membrane protein {ECO:0000255}. Perikaryon {ECO:0000250|UniProtKB:Q63959}. Cell projection, axon {ECO:0000250|UniProtKB:Q63959}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q63959}. Cell projection, dendritic spine membrane {ECO:0000250|UniProtKB:Q01956}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, cell cortex {ECO:0000269|PubMed:26997484}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:26997484}. Note=Detected on Purkinje cell dendritic spines (By similarity). Detected at presynaptic calices of Held (By similarity). Colocalizes with the cortical actin cytoskeleton and the Arp2/3 complex (PubMed:26997484). {ECO:0000250|UniProtKB:Q01956, ECO:0000250|UniProtKB:Q63959, ECO:0000269|PubMed:26997484}.


uniprotID: Q03721
geneSymbol: KCNC4
reactome: R-HSA-1296072;
pdb: 1B4G;1B4I;1ZTN;
length: 635
go: ENSG00000116396;
drug: DB04522;
snps: rs35167146 rs59123361 rs12411176
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily C member 4 (KSHIIIC) (Voltage-gated potassium channel subunit Kv3.4)

sequence:

opentargets:
axon [GO:0030424]; axon terminus [GO:0043679]; dendrite membrane [GO:0032590]; integral component of membrane [GO:0016021]; neuromuscular junction [GO:0031594]; neuronal cell body [GO:0043025]; neuronal cell body membrane [GO:0032809]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; potassium channel activity [GO:0005267]; voltage-gated potassium channel activity [GO:0005249]; chemical synaptic transmission [GO:0007268]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]; regulation of neurotransmitter secretion [GO:0046928]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q03721-1; Sequence=Displayed; Name=2; IsoId=Q03721-2; Sequence=VSP_020581, VSP_020582; Note=Could be a cloning artifact.; Name=3; IsoId=Q03721-3; Sequence=VSP_040033; Note=Gene prediction based on EST data.; 


uniprotID: Q9NSA2
geneSymbol: KCND1
reactome: R-HSA-1296072;R-HSA-5576894;
length: 647
go: ENSG00000102057;
drug: DB06637;
name:
Potassium voltage-gated channel subfamily D member 1 (Voltage-gated potassium channel subunit Kv4.1)

sequence:

opentargets:
dendrite [GO:0030425]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; metal ion binding [GO:0046872]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NSA2-1; Sequence=Displayed; Name=2; IsoId=Q9NSA2-2; Sequence=VSP_057040; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell projection, dendrite {ECO:0000250}.


uniprotID: Q9NQS7
geneSymbol: INCENP
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-4615885;R-HSA-5663220;R-HSA-68877;
pdb: 2QFA;4AF3;5IEH;5IEK;
name: Inner centromere protein
length: 918
go: ENSG00000149503;
snps: rs1792947 rs12281503 rs34441559 rs2277283 rs7129085
sequence:

opentargets:
central element [GO:0000801]; chromocenter [GO:0010369]; chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; lateral element [GO:0000800]; microtubule [GO:0005874]; midbody [GO:0030496]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; protein-containing complex [GO:0032991]; spindle [GO:0005819]; chromosome segregation [GO:0007059]; mitotic cytokinesis [GO:0000281]; mitotic sister chromatid segregation [GO:0000070]; regulation of mitotic cytokinesis [GO:1902412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQS7-1; Sequence=Displayed; Name=2; IsoId=Q9NQS7-2; Sequence=VSP_035651; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11453556}. Chromosome, centromere {ECO:0000269|PubMed:11453556, ECO:0000269|PubMed:12925766, ECO:0000269|PubMed:15316025, ECO:0000269|PubMed:16760428}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:11453556, ECO:0000269|PubMed:15316025}. Midbody {ECO:0000269|PubMed:15316025}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:14610074}. Note=Colocalized at synaptonemal complex central element from zygotene up to late pachytene when it begins to relocalize to heterochromatic chromocenters. Colocalizes with AURKB at a connecting strand traversing the centromere region and joining sister kinetochores, in metaphase II centromeres. This strand disappears at the metaphase II/anaphase II transition and relocalizes to the spindle midzone (By similarity). Colocalizes with AURKB at mitotic chromosomes (PubMed:11453556). Localizes to inner kinetochore (PubMed:16760428). Localizes on chromosome arms and inner centromeres from prophase through metaphase and then transferring to the spindle midzone and midbody from anaphase through cytokinesis (PubMed:15316025). Cocalizes to the equatorial cell cortex at anaphase (PubMed:11453556). {ECO:0000250|UniProtKB:Q9WU62, ECO:0000269|PubMed:11453556, ECO:0000269|PubMed:15316025, ECO:0000269|PubMed:16760428}.


uniprotID: Q27J81
geneSymbol: INF2
name: Inverted formin-2 (HBEBP2-binding protein C)
length: 1249
go: ENSG00000203485;
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:20023659}.
sequence:

opentargets:
perinuclear region of cytoplasm [GO:0048471]; actin binding [GO:0003779]; Rho GTPase binding [GO:0017048]; actin cytoskeleton organization [GO:0030036]; regulation of mitochondrial fission [GO:0090140]

snps:
rs201383094 rs267606880 rs387907035 rs387907034 rs387907036 rs387907037 rs387907038 rs267606877 rs912928648 rs267606879 rs267607183 rs267606878 rs376451593 rs34251364 rs3803311 rs9672065 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q27J81-1; Sequence=Displayed; Name=2; IsoId=Q27J81-2; Sequence=VSP_029361; Name=3; IsoId=Q27J81-3; Sequence=VSP_029360; 


uniprotID: Q9H160
geneSymbol: ING2
reactome: R-HSA-3899300;R-HSA-6811555;
name: Inhibitor of growth protein 2 (Inhibitor of growth 1-like protein) (ING1Lp) (p32) (p33ING2)
length: 280
go: ENSG00000168556;
sequence:

opentargets:
CCAAT-binding factor complex [GO:0016602]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; Sin3 complex [GO:0016580]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; phosphatidylinositol binding [GO:0035091]; protein-containing complex binding [GO:0044877]; chromatin organization [GO:0006325]; flagellated sperm motility [GO:0030317]; male germ-line stem cell asymmetric division [GO:0048133]; male meiosis I [GO:0007141]; negative regulation of cell proliferation [GO:0008285]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; positive regulation of histone deacetylation [GO:0031065]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; regulation of cellular senescence [GO:2000772]; regulation of growth [GO:0040008]; regulation of response to DNA damage stimulus [GO:2001020]; regulation of transcription, DNA-templated [GO:0006355]; seminiferous tubule development [GO:0072520]; signal transduction [GO:0007165]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=ING2a; IsoId=Q9H160-1; Sequence=Displayed; Name=ING2b; IsoId=Q9H160-2; Sequence=VSP_047821; Note=Low expression except in testis, where it reaches half of ING2a levels.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12859901}. Note=Predominantly nuclear. Localized to chromatin and nuclear matrix. Upon reduced PtdIns(5)P levels seems to be released from chromatin and, at least partially, translocated to the cytoplasm.


uniprotID: Q9Y6J6
geneSymbol: KCNE2
reactome: R-HSA-5576890;R-HSA-5576893;
pdb: 2M0Q;
length: 123
go: ENSG00000159197;
name:
Potassium voltage-gated channel subfamily E member 2 (MinK-related peptide 1) (Minimum potassium ion channel-related peptide 1) (Potassium channel subunit beta MiRP1)

sequence:
MSTLSNFTQTLEDVFRRIFITYMDNWRQNTTAEQEALQAKVDAENFYYVILYLMVMIGMFSFIIVAILVSTVKSKRREHSNDPYHQYIVEDWQEKYKSQILNLEESKATIHENIGAAGFKMSP

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; inward rectifier potassium channel activity [GO:0005242]; ion channel binding [GO:0044325]; potassium channel regulator activity [GO:0015459]; protein homodimerization activity [GO:0042803]; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization [GO:1902282]; aging [GO:0007568]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cellular response to drug [GO:0035690]; membrane repolarization [GO:0086009]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; positive regulation of proteasomal protein catabolic process [GO:1901800]; positive regulation of voltage-gated calcium channel activity [GO:1901387]; potassium ion export [GO:0071435]; potassium ion import [GO:0010107]; potassium ion transmembrane transport [GO:0071805]; regulation of cyclic nucleotide-gated ion channel activity [GO:1902159]; regulation of delayed rectifier potassium channel activity [GO:1902259]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of inward rectifier potassium channel activity [GO:1901979]; regulation of membrane repolarization [GO:0060306]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; tongue development [GO:0043586]; ventricular cardiac muscle cell action potential [GO:0086005]

snps:
rs2234916 rs35759083 rs16991652 rs142153692 rs199473363 rs74315449 rs148968498 rs74315447 rs74315448 rs16991654 rs199473364 rs199473364 rs16991656 rs199473365 rs141423405 rs74424227 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20533308}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P63161}. Note=Colocalizes with KCNB1 at the plasma membrane. {ECO:0000250|UniProtKB:P63161}.


uniprotID: P09529
geneSymbol: INHBB
reactome: R-HSA-1502540;R-HSA-209822;R-HSA-2473224;
name: Inhibin beta B chain (Activin beta-B chain)
length: 407
go: ENSG00000163083;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
cell periphery [GO:0071944]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; perinuclear region of cytoplasm [GO:0048471]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; host cell surface receptor binding [GO:0046789]; protein homodimerization activity [GO:0042803]; transforming growth factor beta receptor binding [GO:0005160]; activin receptor signaling pathway [GO:0032924]; cell development [GO:0048468]; cell differentiation [GO:0030154]; cellular response to insulin stimulus [GO:0032869]; cellular response to leptin stimulus [GO:0044320]; cellular response to starvation [GO:0009267]; defense response [GO:0006952]; fat cell differentiation [GO:0045444]; negative regulation of follicle-stimulating hormone secretion [GO:0046882]; negative regulation of hepatocyte growth factor biosynthetic process [GO:0048178]; negative regulation of insulin secretion [GO:0046676]; oocyte development [GO:0048599]; ovarian follicle development [GO:0001541]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of follicle-stimulating hormone secretion [GO:0046881]; positive regulation of ovulation [GO:0060279]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; response to wounding [GO:0009611]; SMAD protein signal transduction [GO:0060395]


uniprotID: Q9UJ90
geneSymbol: KCNE5
reactome: R-HSA-5576890;R-HSA-5576893;
length: 142
go: ENSG00000176076;
snps: rs17003955 rs199924386 rs41312935
name:
Potassium voltage-gated channel subfamily E regulatory beta subunit 5 (AMME syndrome candidate gene 2 protein) (Potassium channel subunit beta MiRP4) (Potassium voltage-gated channel subfamily E member 1-like protein)

sequence:
MNCSESQRLRTLLSRLLLELHHRGNASGLGAGPRPSMGMGVVPDPFVGREVTSAKGDDAYLYILLIMIFYACLAGGLILAYTRSRKLVEAKDEPSQACAEHEWAPGGALTADAEAAAGSQAEGRRQLASEGLPALAQGAERV

opentargets:
plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; ion channel binding [GO:0044325]; potassium channel regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; atrial cardiac muscle cell action potential [GO:0086014]; cardiac muscle contraction [GO:0060048]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; negative regulation of potassium ion transmembrane transport [GO:1901380]; positive regulation of potassium ion transmembrane transport [GO:1901381]; potassium ion export [GO:0071435]; potassium ion transmembrane transport [GO:0071805]; regulation of atrial cardiac muscle cell membrane repolarization [GO:0060372]; regulation of cation channel activity [GO:2001257]; regulation of heart contraction [GO:0008016]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of membrane repolarization [GO:0060306]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; ventricular cardiac muscle cell action potential [GO:0086005]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:20533308}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: P55103
geneSymbol: INHBC
reactome: R-HSA-209822;
name: Inhibin beta C chain (Activin beta-C chain)
length: 352
go: ENSG00000175189;
snps: rs2229357
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; transforming growth factor beta receptor binding [GO:0005160]; cell development [GO:0048468]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; SMAD protein signal transduction [GO:0060395]


uniprotID: P58166
geneSymbol: INHBE
reactome: R-HSA-209822;
name: Inhibin beta E chain (Activin beta-E chain)
length: 350
go: ENSG00000139269;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; transforming growth factor beta receptor binding [GO:0005160]; cell development [GO:0048468]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; SMAD protein signal transduction [GO:0060395]


uniprotID: Q9UJ96
geneSymbol: KCNG2
reactome: R-HSA-1296072;R-HSA-381676;
length: 466
go: ENSG00000178342;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily G member 2 (Cardiac potassium channel subunit) (Voltage-gated potassium channel subunit Kv6.2)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of heart contraction [GO:0008016]; regulation of insulin secretion [GO:0050796]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q8TAE7
geneSymbol: KCNG3
reactome: R-HSA-1296072;
length: 436
go: ENSG00000171126;
name:
Potassium voltage-gated channel subfamily G member 3 (Voltage-gated potassium channel subunit Kv10.1) (Voltage-gated potassium channel subunit Kv6.3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Kv10.1b; IsoId=Q8TAE7-1; Sequence=Displayed; Name=2; Synonyms=Kv10.1a; IsoId=Q8TAE7-2; Sequence=VSP_001026; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11852086, ECO:0000269|PubMed:12060745, ECO:0000269|PubMed:19074135}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:12060745}. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane (PubMed:12060745). Colocalizes with KCNB1 at the plasma membrane (PubMed:12060745, PubMed:19074135). Remains intracellular in the absence of KCNB1 (PubMed:12060745). {ECO:0000269|PubMed:12060745, ECO:0000269|PubMed:19074135}.


uniprotID: Q96L42
geneSymbol: KCNH8
reactome: R-HSA-1296072;
length: 1107
go: ENSG00000183960;
snps: rs33915638 rs35160416
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily H member 8 (ELK1) (hElk1) (Ether-a-go-go-like potassium channel 3) (ELK channel 3) (ELK3) (Voltage-gated potassium channel subunit Kv12.1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; phosphorelay sensor kinase activity [GO:0000155]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96L42-1; Sequence=Displayed; Name=2; IsoId=Q96L42-2; Sequence=VSP_057036, VSP_057037, VSP_057038, VSP_057039; Note=No experimental confirmation available.; 


uniprotID: P48048
geneSymbol: KCNJ1
reactome: R-HSA-1296067;
length: 391
go: ENSG00000151704;
drug: DB00414;DB08838;DB00217;DB00222;DB01382;DB00350;DB01124;DB01392;
name:
ATP-sensitive inward rectifier potassium channel 1 (ATP-regulated potassium channel ROM-K) (Inward rectifier K(+) channel Kir1.1) (Potassium channel, inwardly rectifying subfamily J member 1)

sequence:

opentargets:
plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; ATP binding [GO:0005524]; ATP-activated inward rectifier potassium channel activity [GO:0015272]; inward rectifier potassium channel activity [GO:0005242]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; excretion [GO:0007588]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]

snps:
rs34191956 rs1213764655 rs104894250 rs373745258 rs104894251 rs104894254 rs104894253 rs104894246 rs104894245 rs753949204 rs59172778 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=ROM-K1; IsoId=P48048-1; Sequence=Displayed; Name=2; Synonyms=2-4-5, ROM-K2, ROM-K4, ROM-K5, ROM-K6; IsoId=P48048-2; Sequence=VSP_002797; Name=3; Synonyms=ROM-K3; IsoId=P48048-3; Sequence=VSP_002798; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12684516}; Multi-pass membrane protein {ECO:0000269|PubMed:12684516}. Note=Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.


uniprotID: P63252
geneSymbol: KCNJ2
reactome: R-HSA-1296041;R-HSA-1296053;R-HSA-5576886;R-HSA-997272;
length: 427
go: ENSG00000123700;
name:
Inward rectifier potassium channel 2 (Cardiac inward rectifier potassium channel) (Inward rectifier K(+) channel Kir2.1) (IRK-1) (hIRK1) (Potassium channel, inwardly rectifying subfamily J member 2)

sequence:

opentargets:
dendritic spine [GO:0043197]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; intrinsic component of membrane [GO:0031224]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; smooth endoplasmic reticulum [GO:0005790]; T-tubule [GO:0030315]; voltage-gated potassium channel complex [GO:0008076]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; identical protein binding [GO:0042802]; inward rectifier potassium channel activity [GO:0005242]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization [GO:0086008]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cellular potassium ion homeostasis [GO:0030007]; cellular response to mechanical stimulus [GO:0071260]; magnesium ion transport [GO:0015693]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; positive regulation of potassium ion transmembrane transport [GO:1901381]; potassium ion import [GO:0010107]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homotetramerization [GO:0051289]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of membrane repolarization [GO:0060306]; regulation of resting membrane potential [GO:0060075]; regulation of skeletal muscle contraction via regulation of action potential [GO:0014861]; relaxation of cardiac muscle [GO:0055119]; relaxation of skeletal muscle [GO:0090076]

snps:
rs199473650 rs104894580 rs104894575 rs104894585 rs147750704 rs104894584 rs104894581 rs104894583 rs104894578 rs104894579 rs104894582 rs199473387 

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Membrane; Lipid-anchor {ECO:0000269|PubMed:25043870}.


uniprotID: P48549
geneSymbol: KCNJ3
reactome: R-HSA-1296041;R-HSA-997272;
length: 501
go: ENSG00000162989;
drug: DB00898;DB01159;
snps: rs16838016
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
G protein-activated inward rectifier potassium channel 1 (GIRK-1) (Inward rectifier K(+) channel Kir3.1) (Potassium channel, inwardly rectifying subfamily J member 3)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of presynaptic membrane [GO:0099056]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; T-tubule [GO:0030315]; voltage-gated potassium channel complex [GO:0008076]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; inward rectifier potassium channel activity [GO:0005242]; voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization [GO:0086089]; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization [GO:1902282]; membrane repolarization during atrial cardiac muscle cell action potential [GO:0098914]; potassium ion import [GO:0010107]; potassium ion import across plasma membrane [GO:1990573]; potassium ion transport [GO:0006813]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ion transmembrane transport [GO:0034765]; response to electrical stimulus [GO:0051602]; ventricular cardiac muscle cell membrane repolarization [GO:0099625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48549-1; Sequence=Displayed; Name=2; IsoId=P48549-2; Sequence=VSP_045432, VSP_045433; 


uniprotID: P48050
geneSymbol: KCNJ4
reactome: R-HSA-1296041;R-HSA-1296053;R-HSA-5576886;R-HSA-997272;
pdb: 3GJ9;
length: 445
go: ENSG00000168135;
name:
Inward rectifier potassium channel 4 (HIRK2) (HRK1) (Hippocampal inward rectifier) (HIR) (Inward rectifier K(+) channel Kir2.3) (IRK-3) (Potassium channel, inwardly rectifying subfamily J member 4)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; cytoplasmic vesicle membrane [GO:0030659]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; voltage-gated potassium channel complex [GO:0008076]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; inward rectifier potassium channel activity [GO:0005242]; PDZ domain binding [GO:0030165]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}. Note=TAX1BP3 binding promotes dissociation of KCNJ4 from LIN7 famaly members and KCNJ4 internalization. {ECO:0000250}.


uniprotID: P48544
geneSymbol: KCNJ5
reactome: R-HSA-1296041;R-HSA-997272;
length: 419
go: ENSG00000120457;
drug: DB00898;DB01016;
name:
G protein-activated inward rectifier potassium channel 4 (GIRK-4) (Cardiac inward rectifier) (CIR) (Heart KATP channel) (Inward rectifier K(+) channel Kir3.4) (IRK-4) (KATP-1) (Potassium channel, inwardly rectifying subfamily J member 5)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; plasma membrane [GO:0005886]; T-tubule [GO:0030315]; voltage-gated potassium channel complex [GO:0008076]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; inward rectifier potassium channel activity [GO:0005242]; voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization [GO:0086089]; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization [GO:1902282]; membrane repolarization during atrial cardiac muscle cell action potential [GO:0098914]; potassium ion import [GO:0010107]; potassium ion import across plasma membrane [GO:1990573]; potassium ion transport [GO:0006813]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ion transmembrane transport [GO:0034765]; ventricular cardiac muscle cell membrane repolarization [GO:0099625]

snps:
rs560269341 rs587777437 rs386352319 rs587777438 rs387906778 rs386352318 rs138295501 rs759363415 rs7102584 rs199830292 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:22315453, ECO:0000269|PubMed:24037882}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P48051
geneSymbol: KCNJ6
reactome: R-HSA-1296041;R-HSA-997272;
length: 423
go: ENSG00000157542;
drug: DB00898;DB01159;
snps: rs786204795
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
G protein-activated inward rectifier potassium channel 2 (GIRK-2) (BIR1) (Inward rectifier K(+) channel Kir3.2) (KATP-2) (Potassium channel, inwardly rectifying subfamily J member 6)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; inward rectifier potassium channel activity [GO:0005242]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q15842
geneSymbol: KCNJ8
reactome: R-HSA-1296025;
length: 424
go: ENSG00000121361;
drug: DB01251;DB01289;DB01016;DB00922;DB00914;DB01154;DB01392;
snps: rs606231263 rs606231264 rs34811413 rs147316959 rs72554071
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein {ECO:0000305}.
name:
ATP-sensitive inward rectifier potassium channel 8 (Inward rectifier K(+) channel Kir6.1) (Potassium channel, inwardly rectifying subfamily J member 8) (uKATP-1)

sequence:

opentargets:
inward rectifying potassium channel [GO:0008282]; mitochondrion [GO:0005739]; myofibril [GO:0030016]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; voltage-gated potassium channel complex [GO:0008076]; ATP binding [GO:0005524]; ATP-activated inward rectifier potassium channel activity [GO:0015272]; inward rectifier potassium channel activity [GO:0005242]; sulfonylurea receptor binding [GO:0017098]; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization [GO:1902282]; defense response to virus [GO:0051607]; heart development [GO:0007507]; kidney development [GO:0001822]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; potassium ion import [GO:0010107]; potassium ion import across plasma membrane [GO:1990573]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]; response to exogenous dsRNA [GO:0043330]; response to lipopolysaccharide [GO:0032496]


uniprotID: Q92806
geneSymbol: KCNJ9
reactome: R-HSA-1296041;R-HSA-997272;
length: 393
go: ENSG00000162728;
drug: DB00898;
snps: rs3001040
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
G protein-activated inward rectifier potassium channel 3 (GIRK-3) (Inward rectifier K(+) channel Kir3.3) (Potassium channel, inwardly rectifying subfamily J member 9)

sequence:

opentargets:
integral component of presynaptic membrane [GO:0099056]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; inward rectifier potassium channel activity [GO:0005242]; potassium ion import [GO:0010107]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: O00180
geneSymbol: KCNK1
reactome: R-HSA-1299308;R-HSA-5576886;
pdb: 3UKM;
length: 336
go: ENSG00000135750;
drug: DB00308;DB00908;DB01346;
name:
Potassium channel subfamily K member 1 (Inward rectifying potassium channel protein TWIK-1) (Potassium channel K2P1) (Potassium channel KCNO1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cell junction [GO:0030054]; dendrite [GO:0030425]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; inward rectifier potassium channel complex [GO:1902937]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; potassium channel complex [GO:0034705]; recycling endosome [GO:0055037]; synapse [GO:0045202]; voltage-gated potassium channel complex [GO:0008076]; identical protein binding [GO:0042802]; inward rectifier potassium channel activity [GO:0005242]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; sodium channel activity [GO:0005272]; cardiac conduction [GO:0061337]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of resting membrane potential [GO:0060075]; response to nicotine [GO:0035094]; sodium ion transmembrane transport [GO:0035725]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15820677, ECO:0000269|PubMed:17693262, ECO:0000269|PubMed:20498050, ECO:0000269|PubMed:21653227, ECO:0000269|PubMed:22282804, ECO:0000269|PubMed:22431633, ECO:0000269|PubMed:23169818, ECO:0000269|PubMed:25001086, ECO:0000269|PubMed:8605869, ECO:0000269|PubMed:8978667}; Multi-pass membrane protein {ECO:0000269|PubMed:22282804, ECO:0000269|PubMed:8978667, ECO:0000305}. Recycling endosome {ECO:0000269|PubMed:19959478}. Cell junction, synapse {ECO:0000250|UniProtKB:Q9Z2T2}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:O08581}. Perikaryon {ECO:0000250|UniProtKB:O08581}. Cell projection, dendrite {ECO:0000250|UniProtKB:O08581}. Cell projection {ECO:0000250|UniProtKB:O08581}. Apical cell membrane {ECO:0000269|PubMed:21964404}; Multi-pass membrane protein {ECO:0000305}. Note=The heterodimer with KCNK2 is detected at the astrocyte cell membrane. Not detected at the astrocyte cell membrane when KCNK2 is absent. Detected on neuronal cell bodies, and to a lesser degree on neuronal cell projections. Detected on hippocampus dentate gyrus granule cell bodies and to a lesser degree on proximal dendrites. Detected in synaptic membranes. Detected at the apical cell membrane in stria vascularis in the cochlea. Detected at the apical cell membrane of vestibular dark cells situated between the crista and the utricle in the inner ear. Detected at the apical cell membrane in kidney proximal tubule segment S1 and in subapical compartments in segments S1, S2 and S3. Predominantly in cytoplasmic structures in kidney distal convoluted tubules and collecting ducts (By similarity). Detected at the apical cell membrane of bronchial epithelial cells (PubMed:21964404). {ECO:0000250|UniProtKB:O08581, ECO:0000250|UniProtKB:Q9Z2T2, ECO:0000269|PubMed:21964404}.


uniprotID: O95069
geneSymbol: KCNK2
reactome: R-HSA-1299503;R-HSA-5576886;
pdb: 4TWK;
length: 426
go: ENSG00000082482;
drug: DB00204;DB04855;
name:
Potassium channel subfamily K member 2 (Outward rectifying potassium channel protein TREK-1) (TREK-1 K(+) channel subunit) (Two pore domain potassium channel TREK-1) (Two pore potassium channel TPKC1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; astrocyte projection [GO:0097449]; calyx of Held [GO:0044305]; cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; outward rectifier potassium channel activity [GO:0015271]; potassium channel inhibitor activity [GO:0019870]; potassium ion leak channel activity [GO:0022841]; cardiac ventricle development [GO:0003231]; cellular response to hypoxia [GO:0071456]; cochlea development [GO:0090102]; G protein-coupled receptor signaling pathway [GO:0007186]; memory [GO:0007613]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; negative regulation of DNA biosynthetic process [GO:2000279]; positive regulation of cell death [GO:0010942]; positive regulation of cellular response to hypoxia [GO:1900039]; potassium ion transmembrane transport [GO:0071805]; regulation of membrane potential [GO:0042391]; response to axon injury [GO:0048678]; response to mechanical stimulus [GO:0009612]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=TREK-1b; IsoId=O95069-1; Sequence=Displayed; Name=2; Synonyms=TREK-1a; IsoId=O95069-2; Sequence=VSP_024429; Name=3; Synonyms=TREK-1c; IsoId=O95069-3; Sequence=VSP_024428; Name=4; Synonyms=TREK-1e; IsoId=O95069-4; Sequence=VSP_024428, VSP_047567, VSP_047568; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:23169818}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000269|PubMed:10784345}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: O14649
geneSymbol: KCNK3
reactome: R-HSA-1299316;R-HSA-5576886;
length: 394
go: ENSG00000171303;
drug: DB00561;DB01159;
snps: rs1085307438 rs398123040 rs398123042 rs398123043 rs398123039 rs398123041
name:
Potassium channel subfamily K member 3 (Acid-sensitive potassium channel protein TASK-1) (TWIK-related acid-sensitive K(+) channel 1) (Two pore potassium channel KT3.1) (Two pore K(+) channel KT3.1)

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; growth factor activity [GO:0008083]; ion channel activity [GO:0005216]; open rectifier potassium channel activity [GO:0005252]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; protein C-terminus binding [GO:0008022]; S100 protein binding [GO:0044548]; brain development [GO:0007420]; cardiac conduction [GO:0061337]; cellular response to hypoxia [GO:0071456]; cellular response to zinc ion [GO:0071294]; chemical synaptic transmission [GO:0007268]; cochlea development [GO:0090102]; ion transmembrane transport [GO:0034220]; negative regulation of cytosolic calcium ion concentration [GO:0051481]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; response to drug [GO:0042493]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23169818}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q9NYG8
geneSymbol: KCNK4
reactome: R-HSA-1299503;R-HSA-5576886;
pdb: 3UM7;4I9W;4RUE;4RUF;4WFE;4WFF;4WFG;4WFH;
length: 393
go: ENSG00000182450;
snps: rs953778
name:
Potassium channel subfamily K member 4 (TWIK-related arachidonic acid-stimulated potassium channel protein) (TRAAK) (Two pore potassium channel KT4.1) (Two pore K(+) channel KT4.1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; potassium channel complex [GO:0034705]; identical protein binding [GO:0042802]; mechanosensitived potassium channel activity [GO:0098782]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; temperature-gated cation channel activity [GO:0097604]; voltage-gated ion channel activity [GO:0005244]; cellular response to alkaline pH [GO:0071469]; cellular response to fatty acid [GO:0071398]; cellular response to mechanical stimulus [GO:0071260]; cellular response to temperature stimulus [GO:0071502]; detection of mechanical stimulus involved in sensory perception of touch [GO:0050976]; memory [GO:0007613]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]; sensory perception of pain [GO:0019233]; sensory perception of temperature stimulus [GO:0050951]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=KT4.1a; IsoId=Q9NYG8-1; Sequence=Displayed; Name=2; Synonyms=KT4.1b; IsoId=Q9NYG8-2; Sequence=VSP_006689; 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: Cell membrane {ECO:0000269|PubMed:22282805, ECO:0000269|PubMed:23341632, ECO:0000269|PubMed:25471887, ECO:0000269|PubMed:25500157}; Multi-pass membrane protein {ECO:0000269|PubMed:22282805, ECO:0000269|PubMed:23341632, ECO:0000269|PubMed:25471887, ECO:0000269|PubMed:25500157}.


uniprotID: O95279
geneSymbol: KCNK5
reactome: R-HSA-5576886;
length: 499
go: ENSG00000164626;
snps: rs9462487
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Potassium channel subfamily K member 5 (Acid-sensitive potassium channel protein TASK-2) (TWIK-related acid-sensitive K(+) channel 2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; voltage-gated potassium channel activity [GO:0005249]; excretion [GO:0007588]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q9Y257
geneSymbol: KCNK6
reactome: R-HSA-1299308;R-HSA-5576886;
length: 313
go: ENSG00000099337;
drug: DB00308;DB00908;
snps: rs35762773 rs35496032 rs34989303
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Potassium channel subfamily K member 6 (Inward rectifying potassium channel protein TWIK-2) (TWIK-originated similarity sequence)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; inward rectifier potassium channel activity [GO:0005242]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; cardiac conduction [GO:0061337]; negative regulation of systemic arterial blood pressure [GO:0003085]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]; regulation of resting membrane potential [GO:0060075]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y257-1; Sequence=Displayed; Name=2; IsoId=Q9Y257-2; Sequence=VSP_006692; 


uniprotID: Q9Y2U2
geneSymbol: KCNK7
reactome: R-HSA-1299308;R-HSA-5576886;
name: Potassium channel subfamily K member 7
length: 307
go: ENSG00000173338;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; voltage-gated ion channel activity [GO:0005244]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=Q9Y2U2-1; Sequence=Displayed; Name=B; IsoId=Q9Y2U2-2; Sequence=VSP_006693, VSP_006694; Name=C; IsoId=Q9Y2U2-3; Sequence=VSP_006695, VSP_006696; 


uniprotID: Q9NPC2
geneSymbol: KCNK9
reactome: R-HSA-1299316;R-HSA-5576886;
pdb: 3P1N;3P1O;3P1P;3P1Q;3P1R;3P1S;3SMK;3SML;3SMM;3SMN;3SMO;3SP5;3SPR;3UX0;4FR3;6GHP;
length: 374
go: ENSG00000169427;
drug: DB00561;DB01159;
snps: rs121908332
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Potassium channel subfamily K member 9 (Acid-sensitive potassium channel protein TASK-3) (TWIK-related acid-sensitive K(+) channel 3) (Two pore potassium channel KT3.2) (Two pore K(+) channel KT3.2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]


uniprotID: P57789
geneSymbol: KCNK10
reactome: R-HSA-1299503;R-HSA-5576886;
pdb: 4BW5;4XDJ;4XDK;4XDL;
length: 538
go: ENSG00000100433;
snps: rs398263 rs17762463
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Potassium channel subfamily K member 10 (Outward rectifying potassium channel protein TREK-2) (TREK-2 K(+) channel subunit)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; voltage-gated ion channel activity [GO:0005244]; memory [GO:0007613]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; Synonyms=TREK-2a; IsoId=P57789-1; Sequence=Displayed; Name=B; Synonyms=TREK-2b; IsoId=P57789-4; Sequence=VSP_006697; Name=C; Synonyms=TREK-2c; IsoId=P57789-3; Sequence=VSP_006698; 


uniprotID: Q9HB15
geneSymbol: KCNK12
reactome: R-HSA-5576886;
length: 430
go: ENSG00000184261;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Potassium channel subfamily K member 12 (Tandem pore domain halothane-inhibited potassium channel 2) (THIK-2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; potassium ion leak channel activity [GO:0022841]; voltage-gated ion channel activity [GO:0005244]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q9HB14
geneSymbol: KCNK13
reactome: R-HSA-1299287;R-HSA-5576886;
length: 408
go: ENSG00000152315;
snps: rs3814848 rs35909577
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Potassium channel subfamily K member 13 (Tandem pore domain halothane-inhibited potassium channel 1) (THIK-1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; voltage-gated ion channel activity [GO:0005244]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q9H427
geneSymbol: KCNK15
reactome: R-HSA-5576886;
length: 330
snps: rs1111032 rs6073538 rs13037900 rs13042905
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium channel subfamily K member 15 (Acid-sensitive potassium channel protein TASK-5) (TWIK-related acid-sensitive K(+) channel 5) (Two pore potassium channel KT3.3) (Two pore K(+) channel KT3.3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; cardiac conduction [GO:0061337]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q96T55
geneSymbol: KCNK16
reactome: R-HSA-1299361;R-HSA-5576886;
length: 309
go: ENSG00000095981;
snps: rs9462527 rs1535500 rs11756091
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium channel subfamily K member 16 (2P domain potassium channel Talk-1) (TWIK-related alkaline pH-activated K(+) channel 1) (TALK-1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; voltage-gated ion channel activity [GO:0005244]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=a; IsoId=Q96T55-1; Sequence=Displayed; Name=b; IsoId=Q96T55-3; Sequence=VSP_039865; Name=c; IsoId=Q96T55-4; Sequence=VSP_039863; Name=d; IsoId=Q96T55-5; Sequence=VSP_039864; 


uniprotID: Q96T54
geneSymbol: KCNK17
reactome: R-HSA-1299361;R-HSA-5576886;
length: 332
go: ENSG00000124780;
snps: rs10947804 rs35677794 rs2758910
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium channel subfamily K member 17 (2P domain potassium channel Talk-2) (Acid-sensitive potassium channel protein TASK-4) (TWIK-related acid-sensitive K(+) channel 4) (TWIK-related alkaline pH-activated K(+) channel 2) (TALK-2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; voltage-gated ion channel activity [GO:0005244]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96T54-3; Sequence=Displayed; Name=2; IsoId=Q96T54-4; Sequence=VSP_047354; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q7Z418
geneSymbol: KCNK18
reactome: R-HSA-1299344;R-HSA-5576886;
length: 384
go: ENSG00000186795;
snps: rs3909165 rs363359 rs363315 rs363360 rs3026042 rs12247136
name:
Potassium channel subfamily K member 18 (TWIK-related individual potassium channel) (TWIK-related spinal cord potassium channel)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calcium-activated potassium channel activity [GO:0015269]; outward rectifier potassium channel activity [GO:0015271]; potassium channel activity [GO:0005267]; potassium ion leak channel activity [GO:0022841]; cellular response to pH [GO:0071467]; potassium ion export [GO:0071435]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20006580}; Multi-pass membrane protein {ECO:0000269|PubMed:20006580}.


uniprotID: Q92952
geneSymbol: KCNN1
reactome: R-HSA-1296052;
name: Small conductance calcium-activated potassium channel protein 1 (SK1) (SKCa 1) (SKCa1) (KCa2.1)
length: 543
go: ENSG00000105642;
drug: DB01110;DB00721;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calcium-activated potassium channel activity [GO:0015269]; calmodulin binding [GO:0005516]; protein heterodimerization activity [GO:0046982]; small conductance calcium-activated potassium channel activity [GO:0016286]; chemical synaptic transmission [GO:0007268]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92952-1; Sequence=Displayed; Name=2; IsoId=Q92952-2; Sequence=VSP_022501; 


uniprotID: Q9H2S1
geneSymbol: KCNN2
reactome: R-HSA-1296052;
pdb: 5V02;5WBX;5WC5;6ALE;
name: Small conductance calcium-activated potassium channel protein 2 (SK2) (SKCa 2) (SKCa2) (KCa2.2)
length: 579
go: ENSG00000080709;
drug: DB01110;DB00721;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; dendritic spine [GO:0043197]; integral component of membrane [GO:0016021]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; Z disc [GO:0030018]; alpha-actinin binding [GO:0051393]; calcium-activated potassium channel activity [GO:0015269]; calmodulin binding [GO:0005516]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; small conductance calcium-activated potassium channel activity [GO:0016286]; membrane repolarization during atrial cardiac muscle cell action potential [GO:0098914]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of potassium ion transmembrane transport [GO:1901379]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2S1-1; Sequence=Displayed; Name=2; IsoId=Q9H2S1-2; Sequence=VSP_044584; 


uniprotID: Q9UGI6
geneSymbol: KCNN3
reactome: R-HSA-1296052;
name: Small conductance calcium-activated potassium channel protein 3 (SK3) (SKCa 3) (SKCa3) (KCa2.3)
length: 736
go: ENSG00000143603;
drug: DB01110;DB00721;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; calmodulin binding [GO:0005516]; small conductance calcium-activated potassium channel activity [GO:0016286]; potassium ion transmembrane transport [GO:0071805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UGI6-1; Sequence=Displayed; Name=2; IsoId=Q9UGI6-2; Sequence=VSP_039461, VSP_039462; Name=3; Synonyms=SK3-1B; IsoId=Q9UGI6-3; Sequence=VSP_047641; Note=Do not produce functional channels, but selectively suppresses endogenous SK3 currents, in a dominant-negative fashion. This dominant inhibitory effect extends to other members of the SK subfamily. Widely distributed in human tissues and is present at 20-60% of SK3 in the brain.; 


uniprotID: O15554
geneSymbol: KCNN4
reactome: R-HSA-1296052;
pdb: 6CNM;6CNN;6CNO;6D42;
length: 427
go: ENSG00000104783;
drug: DB00257;DB00228;DB01159;DB01110;DB00721;DB00468;
snps: rs1057519077 rs1057519076 rs774455945
name:
Intermediate conductance calcium-activated potassium channel protein 4 (SK4) (SKCa 4) (SKCa4) (IKCa1) (IK1) (KCa3.1) (KCa4) (Putative Gardos channel)

sequence:

opentargets:
neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; voltage-gated potassium channel complex [GO:0008076]; calcium-activated potassium channel activity [GO:0015269]; calmodulin binding [GO:0005516]; Intermediate conductance calcium-activated potassium channel activity [GO:0022894]; potassium channel activity [GO:0005267]; protein phosphatase binding [GO:0019903]; small conductance calcium-activated potassium channel activity [GO:0016286]; calcium ion transport [GO:0006816]; cell volume homeostasis [GO:0006884]; defense response [GO:0006952]; immune system process [GO:0002376]; phospholipid translocation [GO:0045332]; positive regulation of protein secretion [GO:0050714]; positive regulation of T cell receptor signaling pathway [GO:0050862]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; saliva secretion [GO:0046541]; stabilization of membrane potential [GO:0030322]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26148990}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P51787
geneSymbol: KCNQ1
reactome: R-HSA-1296072;R-HSA-5576890;R-HSA-5576893;
pdb: 3BJ4;3HFC;3HFE;4UMO;4V0C;
length: 676
go: ENSG00000053918;
drug: DB04957;DB01244;DB06089;DB00808;
name:
Potassium voltage-gated channel subfamily KQT member 1 (IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1) (KQT-like 1) (Voltage-gated potassium channel subunit Kv7.1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; ion channel complex [GO:0034702]; late endosome [GO:0005770]; lysosome [GO:0005764]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calmodulin binding [GO:0005516]; delayed rectifier potassium channel activity [GO:0005251]; ion channel binding [GO:0044325]; outward rectifier potassium channel activity [GO:0015271]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein kinase A catalytic subunit binding [GO:0034236]; protein kinase A regulatory subunit binding [GO:0034237]; protein phosphatase 1 binding [GO:0008157]; scaffold protein binding [GO:0097110]; voltage-gated potassium channel activity [GO:0005249]; voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization [GO:0086089]; voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization [GO:0086008]; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization [GO:1902282]; atrial cardiac muscle cell action potential [GO:0086014]; cardiac muscle contraction [GO:0060048]; cardiovascular system development [GO:0072358]; cellular response to cAMP [GO:0071320]; cellular response to drug [GO:0035690]; cellular response to epinephrine stimulus [GO:0071872]; gene silencing [GO:0016458]; inner ear development [GO:0048839]; intestinal absorption [GO:0050892]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during atrial cardiac muscle cell action potential [GO:0098914]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; negative regulation of voltage-gated potassium channel activity [GO:1903817]; positive regulation of cardiac muscle contraction [GO:0060452]; positive regulation of heart rate [GO:0010460]; positive regulation of potassium ion transmembrane transport [GO:1901381]; potassium ion export [GO:0071435]; potassium ion export across plasma membrane [GO:0097623]; potassium ion transmembrane transport [GO:0071805]; regulation of atrial cardiac muscle cell membrane repolarization [GO:0060372]; regulation of gastric acid secretion [GO:0060453]; regulation of gene expression by genetic imprinting [GO:0006349]; regulation of heart contraction [GO:0008016]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of membrane repolarization [GO:0060306]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; renal absorption [GO:0070293]; sensory perception of sound [GO:0007605]; ventricular cardiac muscle cell action potential [GO:0086005]

snps:
rs199473442 rs199473443 rs199473671 rs199473446 rs199472676 rs199472678 rs199472679 rs120074191 rs199472681 rs199472682 rs199473449 rs199472685 rs199472686 rs199473450 rs120074192 rs199473451 rs199472688 rs143709408 rs199472690 rs199473453 rs199472692 rs179489 rs199472694 rs199472695 rs199472696 rs199472697 rs199472697 rs120074177 rs120074177 rs199473394 rs199473661 rs199473397 rs199473398 rs104894252 rs120074178 rs120074178 rs199473662 rs199473401 rs199472698 rs199472699 rs150172393 rs199472700 rs199472701 rs199472702 rs199472703 rs199473455 rs199472704 rs17215479 rs199472706 rs199473456 rs199473457 rs199472709 rs199472710 rs199473458 rs199472711 rs199472712 rs199472713 rs120074196 rs120074196 rs397508123 rs199473459 rs199472715 rs199472715 rs120074179 rs120074179 rs199472717 rs199472718 rs199472719 rs199472720 rs199472720 rs199472721 rs199472722 rs199472723 rs199472724 rs199473460 rs199472725 rs120074194 rs120074193 rs199472726 rs120074180 rs199472727 rs199472728 rs199472729 rs199472730 rs199473461 rs199472730 rs199472731 rs199473462 rs199472732 rs199472733 rs199473463 rs199472735 rs199473464 rs199472736 rs199472737 rs199472738 rs120074187 rs193922365 rs199472739 rs193922365 rs199472740 rs199473466 rs199472741 rs120074186 rs120074181 rs199472742 rs120074195 rs199473467 rs199472743 rs199472745 rs199472746 rs120074182 rs199472747 rs120074184 rs199472748 rs120074184 rs120074184 rs74462309 rs74462309 rs199472749 rs104894255 rs199472749 rs199472751 rs199472752 rs199472753 rs199473470 rs199472753 rs199472754 rs199472755 rs199472756 rs199472759 rs199472759 rs12720459 rs12720459 rs12720459 rs199472760 rs199472761 rs199472761 rs199472762 rs199472763 rs199472763 rs120074183 rs199473471 rs199472764 rs199472765 rs199472824 rs199473402 rs199473403 rs199473404 rs199473406 rs199473407 rs199473407 rs12720458 rs199473409 rs199473410 rs199473410 rs199473411 rs199473412 rs199473472 rs199472766 rs199472767 rs199472768 rs199472771 rs199473473 rs199472772 rs199472773 rs199473474 rs199472774 rs199472775 rs12720457 rs199472776 rs199472777 rs267607197 rs199472780 rs12720449 rs12720449 rs199472782 rs140452381 rs199473476 rs199472783 rs199472784 rs199472785 rs17215500 rs145974930 rs145974930 rs199473479 rs199472789 rs199472790 rs120074188 rs199472791 rs199472792 rs199472793 rs199472794 rs199472795 rs199472796 rs199472797 rs199473480 rs199472798 rs199472799 rs199473481 rs120074185 rs199472800 rs120074185 rs199472801 rs199472804 rs199472803 rs199472804 rs199472805 rs199472805 rs199472807 rs199472808 rs199472809 rs199472810 rs17221854 rs199473482 rs199472812 rs120074189 rs120074190 rs199472813 rs199473483 rs199472814 rs199472815 rs199472815 rs199472816 rs34516117 rs147445322 rs199472819 rs199472821 rs199473484 rs1800172 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P51787-1; Sequence=Displayed; Name=2; Synonyms=TKvLQT1; IsoId=P51787-2; Sequence=VSP_000981, VSP_000982; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:18165683, ECO:0000269|PubMed:21228319, ECO:0000269|PubMed:22024150, ECO:0000269|PubMed:25037568}; Multi-pass membrane protein {ECO:0000269|PubMed:18165683}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:18165683, ECO:0000269|PubMed:23529131}. Early endosome {ECO:0000269|PubMed:23529131}. Membrane raft {ECO:0000269|PubMed:20533308, ECO:0000269|PubMed:24855057}. Endoplasmic reticulum {ECO:0000269|PubMed:21228319, ECO:0000269|PubMed:24855057}. Basolateral cell membrane {ECO:0000269|PubMed:21228319}. Note=Colocalized with KCNE3 at the plasma membrane (PubMed:10646604). Upon 17beta-oestradiol treatment, colocalizes with RAB5A at early endosome (PubMed:23529131). Heterotetramer with KCNQ5 is highly retained at the endoplasmic reticulum and is localized outside of lipid raft microdomains (PubMed:24855057). During the early stages of epithelial cell polarization induced by the calcium switch it removed from plasma membrane to the endoplasmic reticulum where it retained and it is redistributed to the basolateral cell surface in a PI3K-dependent manner at a later stage (PubMed:21228319). {ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:21228319, ECO:0000269|PubMed:23529131, ECO:0000269|PubMed:24855057}.


uniprotID: Q8TDN2
geneSymbol: KCNV2
reactome: R-HSA-1296072;
length: 545
go: ENSG00000168263;
snps: rs776275880 rs772921412 rs104894116 rs104894115 rs12352254
name:
Potassium voltage-gated channel subfamily V member 2 (Voltage-gated potassium channel subunit Kv8.2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1.


uniprotID: Q53RY4
geneSymbol: KRTCAP3
name: Keratinocyte-associated protein 3 (KCP-3)
length: 240
go: ENSG00000157992;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53RY4-1; Sequence=Displayed; Name=2; IsoId=Q53RY4-2; Sequence=VSP_017530; 


uniprotID: Q6ZWJ8
geneSymbol: KCP
length: 1568
go: ENSG00000135253;
opentargets: extracellular region [GO:0005576]
snps: rs7787221 rs7782976 rs3734971 rs7786641
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Kielin/chordin-like protein (Cysteine-rich BMP regulator 2) (Cysteine-rich motor neuron 2 protein) (CRIM-2) (Kielin/chordin-like protein 1) (KCP-1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q6ZWJ8-3; Sequence=Displayed; Note=No experimental confirmation available. Derived from EST data.; Name=2; IsoId=Q6ZWJ8-2; Sequence=VSP_059352, VSP_059356, VSP_059357; 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=Q6ZWJ8-4; Sequence=VSP_059353, VSP_059354, VSP_059355; Note=No experimental confirmation available.; 


uniprotID: P12277
geneSymbol: CKB
reactome: R-HSA-71288;
pdb: 3B6R;3DRB;3DRE;
length: 381
go: ENSG00000166165;
drug: DB00148;
snps: rs36002620 rs35156510 rs12505
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Creatine kinase B-type (EC 2.7.3.2) (Brain creatine kinase) (B-CK) (Creatine kinase B chain) (Creatine phosphokinase B-type) (CPK-B)

sequence:

opentargets:
cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; ATP binding [GO:0005524]; creatine kinase activity [GO:0004111]; ubiquitin protein ligase binding [GO:0031625]; cellular chloride ion homeostasis [GO:0030644]; cerebellum development [GO:0021549]; creatine metabolic process [GO:0006600]; substantia nigra development [GO:0021762]


uniprotID: P06732
geneSymbol: CKM
reactome: R-HSA-71288;
pdb: 1I0E;
length: 381
go: ENSG00000104879;
drug: DB02490;DB00148;DB04027;
snps: rs11559024 rs17875653 rs17357122 rs17875625
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Creatine kinase M-type (EC 2.7.3.2) (Creatine kinase M chain) (Creatine phosphokinase M-type) (CPK-M) (M-CK)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; ATP binding [GO:0005524]; creatine kinase activity [GO:0004111]; creatine metabolic process [GO:0006600]; phosphocreatine biosynthetic process [GO:0046314]


uniprotID: P17540
geneSymbol: CKMT2
reactome: R-HSA-71288;
pdb: 4Z9M;
length: 419
go: ENSG00000131730;
drug: DB00148;
name:
Creatine kinase S-type, mitochondrial (EC 2.7.3.2) (Basic-type mitochondrial creatine kinase) (Mib-CK) (Sarcomeric mitochondrial creatine kinase) (S-MtCK)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; creatine kinase activity [GO:0004111]; creatine metabolic process [GO:0006600]; muscle contraction [GO:0006936]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.


uniprotID: Q6UW63
geneSymbol: KDELC1
pdb: 2DI7;
name: KDEL motif-containing protein 1 (Endoplasmic reticulum resident protein 58) (ER protein 58) (ERp58)
length: 502
go: ENSG00000134901;
opentargets: endoplasmic reticulum lumen [GO:0005788]; glucosyltransferase activity [GO:0046527]
snps: rs1047740
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
sequence:


uniprotID: Q7Z4H8
geneSymbol: KDELC2
name: KDEL motif-containing protein 2
length: 507
go: ENSG00000178202;
opentargets: endoplasmic reticulum lumen [GO:0005788]; glucosyltransferase activity [GO:0046527]
snps: rs17853654
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z4H8-1; Sequence=Displayed; Name=2; IsoId=Q7Z4H8-2; Sequence=VSP_019944, VSP_019945; Name=3; IsoId=Q7Z4H8-3; Sequence=VSP_019944, VSP_019945, VSP_019946, VSP_019947; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q8NAX2
geneSymbol: KDF1
name: Keratinocyte differentiation factor 1
length: 398
go: ENSG00000175707;
snps: rs17360994 rs3010109 rs34291506 rs1057519508 rs755094201
sequence:

opentargets:
cell cortex [GO:0005938]; cell junction [GO:0030054]; cell leading edge [GO:0031252]; cytoplasm [GO:0005737]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; developmental growth [GO:0048589]; establishment of skin barrier [GO:0061436]; keratinocyte development [GO:0003334]; limb epidermis development [GO:0060887]; morphogenesis of embryonic epithelium [GO:0016331]; negative regulation of keratinocyte proliferation [GO:0010839]; negative regulation of stem cell proliferation [GO:2000647]; positive regulation of epidermal cell differentiation [GO:0045606]; regulation of epidermal cell division [GO:0010482]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2A9F4}. Cell junction {ECO:0000250|UniProtKB:A2A9F4}. Note=Localized at cell borders in single layered keratinocytes. Localized at cell borders in the basal and spinous layers but is more diffusely localized in the granular layer. Colocalized with actin near the cell membrane, especially in cellular protrusions (By similarity). {ECO:0000250|UniProtKB:A2A9F4}.


uniprotID: Q9ULH0
geneSymbol: KIDINS220
reactome: R-HSA-170984;
name: Kinase D-interacting substrate of 220 kDa (Ankyrin repeat-rich membrane-spanning protein)
length: 1771
go: ENSG00000134313;
snps: rs2289229 rs2304591 rs1044280
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; membrane [GO:0016020]; protein-containing complex [GO:0032991]; PDZ domain binding [GO:0030165]; protein kinase regulator activity [GO:0019887]; activation of MAPKK activity [GO:0000186]; cellular response to nerve growth factor stimulus [GO:1990090]; dendrite morphogenesis [GO:0048813]; in utero embryonic development [GO:0001701]; nerve growth factor signaling pathway [GO:0038180]; positive regulation of neuron projection development [GO:0010976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9ULH0-1; Sequence=Displayed; Name=2; IsoId=Q9ULH0-2; Sequence=VSP_031862, VSP_031866; Name=3; IsoId=Q9ULH0-3; Sequence=VSP_031863, VSP_031864, VSP_031865; Name=4; IsoId=Q9ULH0-4; Sequence=VSP_031867; Name=5; IsoId=Q9ULH0-5; Sequence=VSP_031861; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Late endosome {ECO:0000250}. Note=Localized at late endosome before or after nerve growth factor (NGF) stimulation.


uniprotID: Q9NZN1
geneSymbol: IL1RAPL1
reactome: R-HSA-388844;R-HSA-9007892;
pdb: 1T3G;4M92;5WY8;
length: 696
go: ENSG00000169306;
snps: rs138267399 rs890627874 rs756672167 rs746481663
name:
Interleukin-1 receptor accessory protein-like 1 (IL-1-RAPL-1) (IL-1RAPL-1) (IL1RAPL-1) (Oligophrenin-4) (Three immunoglobulin domain-containing IL-1 receptor-related 2) (TIGIRR-2) (X-linked interleukin-1 receptor accessory protein-like 1)

sequence:

opentargets:
axon [GO:0030424]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; signaling receptor binding [GO:0005102]; voltage-gated calcium channel activity [GO:0005245]; cellular response to cytokine stimulus [GO:0071345]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; negative regulation of exocytosis [GO:0045920]; neuron differentiation [GO:0030182]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of synapse assembly [GO:0051965]; presynaptic membrane assembly [GO:0097105]; regulation of neuron projection development [GO:0010975]; regulation of postsynapse organization [GO:0099175]; regulation of presynapse assembly [GO:1905606]; signal transduction [GO:0007165]; trans-synaptic signaling by trans-synaptic complex [GO:0099545]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=1;  Comment=A number of isoforms are produced.; Name=1; IsoId=Q9NZN1-1; Sequence=Displayed; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12783849}; Single-pass type I membrane protein {ECO:0000269|PubMed:12783849}. Cytoplasm {ECO:0000269|PubMed:12783849}. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Note=May localize to the cell body and growth cones of dendrite-like processes. {ECO:0000250}.


uniprotID: Q9NP60
geneSymbol: IL1RAPL2
reactome: R-HSA-388844;
length: 686
go: ENSG00000189108;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
X-linked interleukin-1 receptor accessory protein-like 2 (IL-1 receptor accessory protein-like 2) (IL-1-RAPL-2) (IL-1RAPL-2) (IL1RAPL-2) (IL1RAPL-2-related protein) (Interleukin-1 receptor 9) (IL-1R-9) (IL-1R9) (Three immunoglobulin domain-containing IL-1 receptor-related 1) (TIGIRR-1)

sequence:

opentargets:
glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interleukin-1 receptor activity [GO:0004908]; interleukin-1, type II, blocking receptor activity [GO:0004910]; central nervous system development [GO:0007417]; regulation of presynapse assembly [GO:1905606]


uniprotID: Q15040
geneSymbol: JOSD1
reactome: R-HSA-5689877;
name: Josephin-1 (EC 3.4.19.12) (Josephin domain-containing protein 1)
length: 202
go: ENSG00000100221;
snps: rs6001200
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; protein deubiquitination [GO:0016579]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23625928}. Cytoplasm {ECO:0000269|PubMed:23625928}. Note=Ubiquitination increases localization the plasma membrane. In the cytosol, the unubiquitinated form may be associated with the cytoskeleton via ACTB-binding.


uniprotID: Q8WW32
geneSymbol: HMGB4
name: High mobility group protein B4
length: 186
go: ENSG00000176256;
snps: rs11542686 rs10379 rs57068937
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}. Chromosome {ECO:0000250}.
sequence:
MGKEIQLKPKANVSSYVHFLLNYRNKFKEQQPNTYVGFKEFSRKCSEKWRSISKHEKAKYEALAKLDKARYQEEMMNYVGKRKKRRKRDPQEPRRPPSSFLLFCQDHYAQLKRENPNWSVVQVAKATGKMWSTATDLEKHPYEQRVALLRAKYFEELELYRKQCNARKKYRMSARNRCRGKRVRQS

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; DNA binding, bending [GO:0008301]; transcription factor binding [GO:0008134]; activation of innate immune response [GO:0002218]; cell chemotaxis [GO:0060326]; chromatin remodeling [GO:0006338]; developmental process [GO:0032502]; DNA recombination [GO:0006310]; positive regulation of autophagy [GO:0010508]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of innate immune response [GO:0045089]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-1 secretion [GO:0050716]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of signaling receptor activity [GO:0010469]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q92902
geneSymbol: HPS1
reactome: R-HSA-8876198;
name: Hermansky-Pudlak syndrome 1 protein
length: 700
go: ENSG00000107521;
snps: rs1801285 rs1801286 rs11592273 rs17109853 rs2296434 rs2296436 rs139061260
sequence:

opentargets:
BLOC-3 complex [GO:0031085]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; lysosome [GO:0005764]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein dimerization activity [GO:0046983]; lysosome organization [GO:0007040]; melanosome assembly [GO:1903232]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=I; IsoId=Q92902-1; Sequence=Displayed; Name=II; IsoId=Q92902-2; Sequence=VSP_004289; Name=III; IsoId=Q92902-3; Sequence=VSP_004290, VSP_004291; Name=IV; IsoId=Q92902-4; Sequence=VSP_004288; 


uniprotID: Q96RW7
geneSymbol: HMCN1
name: Hemicentin-1 (Fibulin-6) (FIBL-6)
length: 5635
go: ENSG00000143341;
sequence:

opentargets:
basement membrane [GO:0005604]; cell cortex [GO:0005938]; cell-cell adherens junction [GO:0005913]; cleavage furrow [GO:0032154]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; calcium ion binding [GO:0005509]; cell adhesion molecule binding [GO:0050839]; extracellular matrix structural constituent [GO:0005201]; protein homodimerization activity [GO:0042803]; signaling receptor activity [GO:0038023]; cell cycle [GO:0007049]; cell division [GO:0051301]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; response to bacterium [GO:0009617]; visual perception [GO:0007601]

snps:
rs7539719 rs12239296 rs12067376 rs12129650 rs10798035 rs41317489 rs10911825 rs6693069 rs41317507 rs121434382 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96RW7-1; Sequence=Displayed; Name=2; IsoId=Q96RW7-2; Sequence=VSP_016874; Name=3; IsoId=Q96RW7-3; Sequence=VSP_016871, VSP_016872, VSP_016873; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250|UniProtKB:D3YXG0}. Cytoplasm {ECO:0000250|UniProtKB:D3YXG0}. Cell junction {ECO:0000250|UniProtKB:D3YXG0}. Cleavage furrow {ECO:0000250|UniProtKB:D3YXG0}. Note=The antibody used to determine subcellular location does not distinguish between HMCN1 and HMCN2. {ECO:0000250|UniProtKB:D3YXG0}.


uniprotID: Q8N9B5
geneSymbol: JMY
reactome: R-HSA-6804760;
name: Junction-mediating and -regulatory protein
length: 988
go: ENSG00000152409;
snps: rs13182512 rs12109475 rs16876657
sequence:

opentargets:
cell leading edge [GO:0031252]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; actin binding [GO:0003779]; Arp2/3 complex binding [GO:0071933]; transcription coactivator activity [GO:0003713]; 'de novo' actin filament nucleation [GO:0070060]; actin polymerization-dependent cell motility [GO:0070358]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; cell cycle arrest [GO:0007050]; DNA repair [GO:0006281]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9B5-1; Sequence=Displayed; Name=2; IsoId=Q8N9B5-2; Sequence=VSP_032310; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19287377}. Note=Localizes to the nucleus in most cell types. Accumulates in nucleus under DNA damage conditions, increasing p53/TP53 transcription response and reducing its influence on cell motility (By similarity). In primary neutrophils, it colocalizes with actin filaments at the leading edge and is excluded from the nucleus. Localization correlates with motility, because it moves from the nucleus to the cytoplasmic compartment when cells are differentiated from nonmotile cells into highly motile neutrophil-like cells. {ECO:0000250}.


uniprotID: Q9UM19
geneSymbol: HPCAL4
name: Hippocalcin-like protein 4 (HLP4)
length: 191
go: ENSG00000116983;
sequence:
MGKTNSKLAPEVLEDLVQNTEFSEQELKQWYKGFLKDCPSGILNLEEFQQLYIKFFPYGDASKFAQHAFRTFDKNGDGTIDFREFICALSVTSRGSFEQKLNWAFEMYDLDGDGRITRLEMLEIIEAIYKMVGTVIMMRMNQDGLTPQQRVDKIFKKMDQDKDDQITLEEFKEAAKSDPSIVLLLQCDMQK

opentargets:
intracellular [GO:0005622]; calcium channel regulator activity [GO:0005246]; calcium ion binding [GO:0005509]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; central nervous system development [GO:0007417]; signal transduction [GO:0007165]


uniprotID: Q8TAC2
geneSymbol: JOSD2
reactome: R-HSA-5689877;
name: Josephin-2 (EC 3.4.19.12) (Josephin domain-containing protein 2)
length: 188
go: ENSG00000161677;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23625928}.
sequence:
MSQAPGAQPSPPTVYHERQRLELCAVHALNNVLQQQLFSQEAADEICKRLAPDSRLNPHRSLLGTGNYDVNVIMAALQGLGLAAVWWDRRRPLSQLALPQVLGLILNLPSPVSLGLLSLPLRRRHWVALRQVDGVYYNLDSKLRAPEALGDEDGVRAFLAAALAQGLCEVLLVVTKEVEEKGSWLRTD

opentargets:
cytosol [GO:0005829]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TAC2-1; Sequence=Displayed; Name=2; IsoId=Q8TAC2-2; Sequence=VSP_047537; Note=No experimental confirmation available.; 


uniprotID: Q9BVR0
geneSymbol: HERC2P3
name: Putative HERC2-like protein 3
length: 1158
opentargets: metal ion binding [GO:0046872]; ubiquitin-protein transferase activity [GO:0004842]
snps: rs17134681 rs4931826
sequence:


uniprotID: P30519
geneSymbol: HMOX2
reactome: R-HSA-189483;R-HSA-6798695;R-HSA-917937;
pdb: 2Q32;2QPP;2RGZ;4WMH;5UC8;5UC9;5UCA;
name: Heme oxygenase 2 (HO-2) (EC 1.14.14.18)
length: 316
go: ENSG00000103415;
drug: DB00157;DB04912;
snps: rs17884623 rs17880805
location: SUBCELLULAR LOCATION: Microsome. Endoplasmic reticulum.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; heme binding [GO:0020037]; heme oxygenase (decyclizing) activity [GO:0004392]; metal ion binding [GO:0046872]; cellular iron ion homeostasis [GO:0006879]; heme catabolic process [GO:0042167]; heme oxidation [GO:0006788]; iron ion homeostasis [GO:0055072]; neutrophil degranulation [GO:0043312]; response to hypoxia [GO:0001666]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30519-1; Sequence=Displayed; Name=2; IsoId=P30519-2; Sequence=VSP_055031; 


uniprotID: Q92619
geneSymbol: ARHGAP45
reactome: R-HSA-194840;R-HSA-6798695;
pdb: 3D25;3FT3;
name: Rho GTPase-activating protein 45 [Cleaved into: Minor histocompatibility antigen HA-1 (mHag HA-1)]
length: 1136
go: ENSG00000180448;
snps: rs1801284 rs2074442 rs7251797 rs36084354 rs34569196
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytosol [GO:0005829]; extracellular region [GO:0005576]; membrane [GO:0016020]; ruffle membrane [GO:0032587]; secretory granule lumen [GO:0034774]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; intracellular signal transduction [GO:0035556]; neutrophil degranulation [GO:0043312]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92619-1; Sequence=Displayed; Name=2; IsoId=Q92619-2; Sequence=VSP_044707; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24086303}. Cell projection, ruffle membrane {ECO:0000269|PubMed:24086303}.


uniprotID: Q9UJC3
geneSymbol: HOOK1
name: Protein Hook homolog 1 (h-hook1) (hHK1)
length: 728
go: ENSG00000134709;
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; FHF complex [GO:0070695]; microtubule [GO:0005874]; actin binding [GO:0003779]; dynein light intermediate chain binding [GO:0051959]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; cytoplasmic microtubule organization [GO:0031122]; cytoskeleton-dependent intracellular transport [GO:0030705]; early endosome to late endosome transport [GO:0045022]; endosome organization [GO:0007032]; endosome to lysosome transport [GO:0008333]; Golgi organization [GO:0007030]; lysosome organization [GO:0007040]; manchette assembly [GO:1905198]; multicellular organism development [GO:0007275]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJC3-1; Sequence=Displayed; Name=2; IsoId=Q9UJC3-2; Sequence=VSP_056226; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BIL5}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11238449}. Note=Localizes to punctate cytoplasmic foci which do not appear to overlap with early or late endosomes, the endoplasmic reticulum, multivesicular bodies (MVBs), lysosomes, or mitochondria (By similarity). Often found in close association with microtubules (By similarity). Does not associate with the Golgi complex. During spermiogenesis, it localizes to the manchette in spermatids from steps 8-10. It is also present between the microtubule manchette and the nucleus. During manchette elongation, it is preferentially localized to the nuclear ring of the manchette, whereas the strong localization to the manchette decreases. In more mature spermatids, while the manchette migrates posteriorly, it localizes to punctuates spots. At later stages of spermatid differentiation, the punctuate expression pattern is found at both the attachment site and the proximal end of the elongated manchette. In contrast, it is not present in mature spermatozoa (By similarity). {ECO:0000250|UniProtKB:Q8BIL5}.


uniprotID: O43301
geneSymbol: HSPA12A
reactome: R-HSA-3371453;
name: Heat shock 70 kDa protein 12A
length: 675
go: ENSG00000165868;
opentargets: extracellular exosome [GO:0070062]; ATP binding [GO:0005524]
sequence:


uniprotID: Q14103
geneSymbol: HNRNPD
reactome: R-HSA-450408;R-HSA-72163;R-HSA-72203;
pdb: 1HD0;1HD1;1IQT;1WTB;1X0F;2Z5N;5IM0;
name: Heterogeneous nuclear ribonucleoprotein D0 (hnRNP D0) (AU-rich element RNA-binding protein 1)
length: 355
go: ENSG00000138668;
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; synapse [GO:0045202]; AT DNA binding [GO:0003680]; chromatin binding [GO:0003682]; histone deacetylase binding [GO:0042826]; mRNA 3'-UTR AU-rich region binding [GO:0035925]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; telomeric DNA binding [GO:0042162]; transcription factor binding [GO:0008134]; 3'-UTR-mediated mRNA destabilization [GO:0061158]; cellular response to amino acid stimulus [GO:0071230]; cellular response to estradiol stimulus [GO:0071392]; cellular response to nitric oxide [GO:0071732]; cellular response to putrescine [GO:1904586]; cerebellum development [GO:0021549]; circadian regulation of translation [GO:0097167]; hepatocyte dedifferentiation [GO:1990828]; liver development [GO:0001889]; mRNA splicing, via spliceosome [GO:0000398]; mRNA stabilization [GO:0048255]; mRNA transcription by RNA polymerase II [GO:0042789]; positive regulation of gene expression [GO:0010628]; positive regulation of telomerase RNA reverse transcriptase activity [GO:1905663]; positive regulation of telomere capping [GO:1904355]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of translation [GO:0045727]; regulation of circadian rhythm [GO:0042752]; regulation of mRNA stability [GO:0043488]; regulation of telomere maintenance [GO:0032204]; regulation of transcription, DNA-templated [GO:0006355]; response to calcium ion [GO:0051592]; response to electrical stimulus [GO:0051602]; response to rapamycin [GO:1901355]; response to sodium phosphate [GO:1904383]; RNA catabolic process [GO:0006401]; RNA metabolic process [GO:0016070]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=p45, Dx9; IsoId=Q14103-1; Sequence=Displayed; Name=2; Synonyms=p42, Dx4; IsoId=Q14103-2; Sequence=VSP_005834; Name=3; Synonyms=p40, Dx7; IsoId=Q14103-3; Sequence=VSP_005835; Name=4; Synonyms=p37; IsoId=Q14103-4; Sequence=VSP_005834, VSP_005835; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Component of ribonucleosomes. Cytoplasmic localization oscillates diurnally.


uniprotID: P13985
geneSymbol: HRES1
name: Putative HTLV-1-related endogenous sequence (p25)
length: 223
sequence:


uniprotID: O75031
geneSymbol: HSF2BP
name: Heat shock factor 2-binding protein
length: 334
go: ENSG00000160207;
opentargets: cytosol [GO:0005829]; spermatogenesis [GO:0007283]; transcription by RNA polymerase II [GO:0006366]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9D4G2}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75031-1; Sequence=Displayed; Name=2; IsoId=O75031-2; Sequence=VSP_054158; Note=No experimental confirmation available.; 


uniprotID: Q00839
geneSymbol: HNRNPU
reactome: R-HSA-72163;R-HSA-72203;
pdb: 1ZRJ;
length: 825
go: ENSG00000153187;
snps: rs1052660
name:
Heterogeneous nuclear ribonucleoprotein U (hnRNP U) (GRIP120) (Nuclear p120 ribonucleoprotein) (Scaffold-attachment factor A) (SAF-A) (p120) (pp120)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cell surface [GO:0009986]; centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; CRD-mediated mRNA stability complex [GO:0070937]; cytoplasmic ribonucleoprotein granule [GO:0036464]; dendrite cytoplasm [GO:0032839]; inactive sex chromosome [GO:0098577]; kinetochore [GO:0000776]; membrane [GO:0016020]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; mitotic spindle microtubule [GO:1990498]; mitotic spindle midzone [GO:1990023]; nuclear chromosome [GO:0000228]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; ribonucleoprotein complex [GO:1990904]; spindle pole [GO:0000922]; telomerase holoenzyme complex [GO:0005697]; actin binding [GO:0003779]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; double-stranded DNA binding [GO:0003690]; double-stranded RNA binding [GO:0003725]; identical protein binding [GO:0042802]; mRNA 3'-UTR binding [GO:0003730]; poly(A) binding [GO:0008143]; poly(C) RNA binding [GO:0017130]; poly(G) binding [GO:0034046]; pre-mRNA binding [GO:0036002]; promoter-specific chromatin binding [GO:1990841]; protein-containing complex binding [GO:0044877]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; RNA polymerase II C-terminal domain binding [GO:0099122]; RNA polymerase II complex binding [GO:0000993]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific double-stranded DNA binding [GO:1990837]; single-stranded DNA binding [GO:0003697]; single-stranded RNA binding [GO:0003727]; snRNA binding [GO:0017069]; telomerase RNA binding [GO:0070034]; TFIIH-class transcription factor complex binding [GO:0001097]; transcription corepressor activity [GO:0003714]; adaptive thermogenesis [GO:1990845]; cardiac muscle cell development [GO:0055013]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to glucocorticoid stimulus [GO:0071385]; cellular response to leukemia inhibitory factor [GO:1990830]; chromatin organization [GO:0006325]; circadian regulation of gene expression [GO:0032922]; CRD-mediated mRNA stabilization [GO:0070934]; dendritic transport of messenger ribonucleoprotein complex [GO:0098963]; dosage compensation by inactivation of X chromosome [GO:0009048]; maintenance of protein location in nucleus [GO:0051457]; mRNA splicing, via spliceosome [GO:0000398]; mRNA stabilization [GO:0048255]; negative regulation of kinase activity [GO:0033673]; negative regulation of stem cell differentiation [GO:2000737]; negative regulation of telomere maintenance via telomerase [GO:0032211]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription elongation from RNA polymerase II promoter [GO:0034244]; osteoblast differentiation [GO:0001649]; positive regulation of attachment of mitotic spindle microtubules to kinetochore [GO:1902425]; positive regulation of brown fat cell differentiation [GO:0090336]; positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity [GO:2000373]; positive regulation of stem cell proliferation [GO:2000648]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein localization to spindle microtubule [GO:1902889]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of chromatin organization [GO:1902275]; regulation of mitotic cell cycle [GO:0007346]; regulation of mitotic spindle assembly [GO:1901673]; RNA localization to chromatin [GO:1990280]; RNA metabolic process [GO:0016070]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=Q00839-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q00839-2; Sequence=VSP_005846; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10671544, ECO:0000269|PubMed:11003645, ECO:0000269|PubMed:1324173, ECO:0000269|PubMed:14608463, ECO:0000269|PubMed:15563465, ECO:0000269|PubMed:19617346, ECO:0000269|PubMed:21242313, ECO:0000269|PubMed:8174554, ECO:0000269|PubMed:9353307, ECO:0000269|PubMed:9405365}. Nucleus matrix {ECO:0000269|PubMed:1324173, ECO:0000269|PubMed:14608463, ECO:0000269|PubMed:8174554}. Chromosome {ECO:0000269|PubMed:11003645, ECO:0000269|PubMed:14608463, ECO:0000269|PubMed:15563465}. Nucleus speckle {ECO:0000269|PubMed:9353307}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:25986610}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:21242313}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:21242313, ECO:0000269|PubMed:25986610}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:21242313}. Midbody {ECO:0000269|PubMed:25986610}. Cytoplasm {ECO:0000269|PubMed:19029303}. Cell surface {ECO:0000269|PubMed:7993898}. Cytoplasmic granule {ECO:0000269|PubMed:17289661}. Note=Localizes at inactive X chromosome (Xi) regions (PubMed:11003645, PubMed:14608463, PubMed:15563465). Localizes in the nucleus during interphase (PubMed:21242313). At metaphase, localizes with mitotic spindle microtubules (MTs) (PubMed:21242313). At anaphase, localizes in the mitotic spindle midzone (PubMed:21242313). Localizes in spindle MTs proximal to spindle poles in a TPX2- and AURKA-dependent manner (PubMed:21242313). The Ser-59 phosphorylated form localizes to centrosomes during prophase and metaphase, to mitotic spindles in anaphase and to the midbody during cytokinesis (PubMed:25986610). Colocalizes with SMARCA4 in the nucleus (By similarity). Colocalizes with CBX5 in the nucleus (PubMed:19617346). Colocalizes with NR3C1 in nuclear speckles (PubMed:9353307). Localized in cytoplasmic ribonucleoprotein (RNP) granules containing untranslated mRNAs (PubMed:17289661). {ECO:0000250|UniProtKB:Q8VEK3, ECO:0000269|PubMed:11003645, ECO:0000269|PubMed:14608463, ECO:0000269|PubMed:15563465, ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:19617346, ECO:0000269|PubMed:21242313, ECO:0000269|PubMed:25986610, ECO:0000269|PubMed:9353307}.


uniprotID: P31942
geneSymbol: HNRNPH3
length: 346
go: ENSG00000096746;
snps: rs2273903 rs16925347
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8999868}.
name:
Heterogeneous nuclear ribonucleoprotein H3 (hnRNP H3) (Heterogeneous nuclear ribonucleoprotein 2H9) (hnRNP 2H9)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; RNA binding [GO:0003723]; epithelial cell differentiation [GO:0030855]; mRNA splicing, via spliceosome [GO:0000398]; RNA processing [GO:0006396]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P31942-1; Sequence=Displayed; Name=2; Synonyms=2H9A; IsoId=P31942-2; Sequence=VSP_005840; Name=3; Synonyms=2H9B; IsoId=P31942-3; Sequence=VSP_005838; Name=4; Synonyms=2H9C; IsoId=P31942-4; Sequence=VSP_005839; Name=5; Synonyms=2H9D; IsoId=P31942-5; Sequence=VSP_005839, VSP_005843, VSP_005844; Name=6; Synonyms=2H9E; IsoId=P31942-6; Sequence=VSP_005841, VSP_005842, VSP_005843, VSP_005844; 


uniprotID: P61978
geneSymbol: HNRNPK
reactome: R-HSA-4570464;R-HSA-72163;R-HSA-72203;
pdb: 1J5K;1KHM;1ZZI;1ZZJ;1ZZK;
length: 463
go: ENSG00000165119;
name:
Heterogeneous nuclear ribonucleoprotein K (hnRNP K) (Transformation up-regulated nuclear protein) (TUNP)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; podosome [GO:0002102]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; single-stranded DNA binding [GO:0003697]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of apoptotic process [GO:0043066]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; positive regulation of low-density lipoprotein particle receptor biosynthetic process [GO:0045716]; positive regulation of receptor-mediated endocytosis [GO:0048260]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902165]; regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter [GO:0072369]; regulation of low-density lipoprotein particle clearance [GO:0010988]; RNA metabolic process [GO:0016070]; RNA processing [GO:0006396]; signal transduction [GO:0007165]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P61978-1, Q07244-1; Sequence=Displayed; Name=2; IsoId=P61978-2, Q07244-2; Sequence=VSP_002822; Name=3; IsoId=P61978-3; Sequence=VSP_021669, VSP_002822; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:1729596}. Nucleus, nucleoplasm {ECO:0000269|PubMed:16360036, ECO:0000269|PubMed:1729596, ECO:0000269|PubMed:18775702, ECO:0000269|PubMed:22721921}. Cell projection, podosome {ECO:0000269|PubMed:22721921}. Note=Recruited to p53/TP53-responsive promoters, in the presence of functional p53/TP53 (PubMed:16360036). In case of ASFV infection, there is a shift in the localization which becomes predominantly nuclear (PubMed:18775702).


uniprotID: Q9NZL4
geneSymbol: HSPBP1
pdb: 1XQR;1XQS;
length: 359
go: ENSG00000133265;
snps: rs140649061
name:
Hsp70-binding protein 1 (HspBP1) (Heat shock protein-binding protein 1) (Hsp70-binding protein 2) (HspBP2) (Hsp70-interacting protein 1) (Hsp70-interacting protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; adenyl-nucleotide exchange factor activity [GO:0000774]; enzyme inhibitor activity [GO:0004857]; ubiquitin protein ligase binding [GO:0031625]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein ubiquitination [GO:0031398]; protein folding [GO:0006457]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NZL4-1; Sequence=Displayed; Name=2; IsoId=Q9NZL4-2; Sequence=VSP_015945; Note=No experimental confirmation available.; Name=3; IsoId=Q9NZL4-3; Sequence=VSP_053681, VSP_053682; Note=No experimental confirmation available.; 


uniprotID: P00492
geneSymbol: HPRT1
reactome: R-HSA-74217;
name: Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (HGPRTase) (EC 2.4.2.8)
length: 218
go: ENSG00000165704;
drug: DB02309;DB04356;DB01632;DB00993;DB01033;DB00352;
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1BZY;1D6N;1HMP;1Z7G;2VFA;3GEP;3GGC;3GGJ;4IJQ;4KN6;4RAB;4RAC;4RAD;4RAN;4RAO;4RAQ;5BRN;5BSK;5HIA;5W8V;6BNJ;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; guanine phosphoribosyltransferase activity [GO:0052657]; hypoxanthine phosphoribosyltransferase activity [GO:0004422]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; nucleotide binding [GO:0000166]; protein homodimerization activity [GO:0042803]; adenine salvage [GO:0006168]; central nervous system neuron development [GO:0021954]; cerebral cortex neuron differentiation [GO:0021895]; dendrite morphogenesis [GO:0048813]; dopamine metabolic process [GO:0042417]; GMP catabolic process [GO:0046038]; GMP salvage [GO:0032263]; grooming behavior [GO:0007625]; guanine salvage [GO:0006178]; hypoxanthine metabolic process [GO:0046100]; hypoxanthine salvage [GO:0043103]; IMP metabolic process [GO:0046040]; IMP salvage [GO:0032264]; locomotory behavior [GO:0007626]; lymphocyte proliferation [GO:0046651]; positive regulation of dopamine metabolic process [GO:0045964]; protein homotetramerization [GO:0051289]; purine nucleotide biosynthetic process [GO:0006164]; purine ribonucleoside salvage [GO:0006166]; purine-containing compound salvage [GO:0043101]; response to amphetamine [GO:0001975]; striatum development [GO:0021756]; T cell mediated cytotoxicity [GO:0001913]

snps:
rs137852499 rs137852480 rs137852491 rs387906725 rs137852494 rs137852502 rs137852495 rs137852500 rs137852487 rs137852488 rs137852481 rs137852501 rs137852478 rs137852485 rs137852482 rs137852483 rs137852477 rs137852496 rs137852484 rs137852498 rs137852493 rs137852492 rs137852504 rs267606863 rs137852486 rs137852479 rs137852490 


uniprotID: O60760
geneSymbol: HPGDS
reactome: R-HSA-156590;R-HSA-2162123;
length: 199
go: ENSG00000163106;
drug: DB08790;DB01897;DB08695;DB07613;DB07917;DB00143;DB04077;DB08313;DB07615;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9353279}.
pdb:
1IYH;1IYI;1V40;2CVD;2VCQ;2VCW;2VCX;2VCZ;2VD0;2VD1;3EE2;3KXO;3VI5;3VI7;4EC0;4EDY;4EDZ;4EE0;5AIS;5AIV;5AIX;5YWX;

name:
Hematopoietic prostaglandin D synthase (H-PGDS) (EC 5.3.99.2) (GST class-sigma) (Glutathione S-transferase) (EC 2.5.1.18) (Glutathione-dependent PGD synthase) (Glutathione-requiring prostaglandin D synthase) (Prostaglandin-H2 D-isomerase)

sequence:
MPNYKLTYFNMRGRAEIIRYIFAYLDIQYEDHRIEQADWPEIKSTLPFGKIPILEVDGLTLHQSLAIARYLTKNTDLAGNTEMEQCHVDAIVDTLDDFMSCFPWAEKKQDVKEQMFNELLTYNAPHLMQDLDTYLGGREWLIGNSVTWADFYWEICSTTLLVFKPDLLDNHPRLVTLRKKVQAIPAVANWIKRRPQTKL

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; calcium ion binding [GO:0005509]; glutathione transferase activity [GO:0004364]; magnesium ion binding [GO:0000287]; prostaglandin-D synthase activity [GO:0004667]; protein homodimerization activity [GO:0042803]; cyclooxygenase pathway [GO:0019371]; glutathione derivative biosynthetic process [GO:1901687]; locomotory behavior [GO:0007626]; negative regulation of male germ cell proliferation [GO:2000255]; prostaglandin metabolic process [GO:0006693]; signal transduction [GO:0007165]


uniprotID: Q86YZ3
geneSymbol: HRNR
reactome: R-HSA-6798695;
name: Hornerin
length: 2850
go: ENSG00000197915;
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; collagen-containing extracellular matrix [GO:0062023]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; keratohyalin granule [GO:0036457]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; calcium ion binding [GO:0005509]; structural constituent of epidermis [GO:0030280]; transition metal ion binding [GO:0046914]; cell envelope organization [GO:0043163]; establishment of skin barrier [GO:0061436]; keratinization [GO:0031424]; neutrophil degranulation [GO:0043312]

snps:
rs11204937 rs57277761 rs12741518 rs7545406 rs6587649 rs6666097 rs6587648 rs6587647 rs41266134 rs7520249 rs6662450 rs78949172 rs6659183 

location:
SUBCELLULAR LOCATION: Cytoplasmic granule {ECO:0000269|PubMed:21282207}. Note=Found in keratohyalin granules in the granular cells of the epidermis.


uniprotID: Q9NWY4
geneSymbol: HPF1
name: Histone PARylation factor 1
length: 346
go: ENSG00000056050;
snps: rs1047642 rs1047706
sequence:

opentargets:
nucleus [GO:0005634]; histone binding [GO:0042393]; cellular response to DNA damage stimulus [GO:0006974]; peptidyl-serine ADP-ribosylation [GO:0018312]; regulation of protein ADP-ribosylation [GO:0010835]


uniprotID: P10915
geneSymbol: HAPLN1
reactome: R-HSA-3000178;
length: 354
go: ENSG00000145681;
drug: DB08818;
snps: rs6864342
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
name:
Hyaluronan and proteoglycan link protein 1 (Cartilage-linking protein 1) (Cartilage-link protein) (Proteoglycan link protein)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; synapse [GO:0045202]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; hyaluronic acid binding [GO:0005540]; cell adhesion [GO:0007155]; central nervous system development [GO:0007417]; extracellular matrix organization [GO:0030198]


uniprotID: Q9HDD0
geneSymbol: HRASLS
reactome: R-HSA-1482839;
name: Phospholipid-metabolizing enzyme A-C1 (EC 2.3.1.-) (EC 3.1.1.-) (HRAS-like suppressor 1) (HRSL1)
length: 168
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
sequence:
MAFNDCFSLNYPGNPCPGDLIEVFRPGYQHWALYLGDGYVINIAPVDGIPASFTSAKSVFSSKALVKMQLLKDVVGNDTYRINNKYDETYPPLPVEEIIKRSEFVIGQEVAYNLLVNNCEHFVTLLRYGEGVSEQANRAISTVEFVTAAVGVFSFLGLFPKGQRAKYY

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; nuclear envelope lumen [GO:0005641]; N-acyltransferase activity [GO:0016410]; O-acyltransferase activity [GO:0008374]; phospholipase A1 activity [GO:0008970]; phospholipase A2 activity [GO:0004623]; lipid catabolic process [GO:0016042]; phosphatidylcholine metabolic process [GO:0046470]


uniprotID: Q86VS8
geneSymbol: HOOK3
pdb: 5J8E;6B9H;
name: Protein Hook homolog 3 (h-hook3) (hHK3)
length: 718
go: ENSG00000168172;
snps: rs34131505
sequence:

opentargets:
centriolar satellite [GO:0034451]; centrosome [GO:0005813]; cis-Golgi network [GO:0005801]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; FHF complex [GO:0070695]; microtubule [GO:0005874]; pericentriolar material [GO:0000242]; dynactin binding [GO:0034452]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; cytoplasmic microtubule organization [GO:0031122]; cytoskeleton-dependent intracellular transport [GO:0030705]; early endosome to late endosome transport [GO:0045022]; endosome organization [GO:0007032]; endosome to lysosome transport [GO:0008333]; Golgi localization [GO:0051645]; interkinetic nuclear migration [GO:0022027]; lysosome organization [GO:0007040]; microtubule anchoring at centrosome [GO:0034454]; negative regulation of neurogenesis [GO:0050768]; neuronal stem cell population maintenance [GO:0097150]; protein localization to centrosome [GO:0071539]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11238449}. Golgi apparatus {ECO:0000269|PubMed:11238449}. Note=Enriched at the cis-face of the Golgi complex. Localizes to microtubule asters in prophase (PubMed:11238449). Localizes to the manchette in elongating spermatids (By similarity). {ECO:0000250|UniProtKB:Q8BUK6, ECO:0000269|PubMed:11238449}.


uniprotID: Q9UL19
geneSymbol: RARRES3
reactome: R-HSA-1482839;
pdb: 2LKT;2MY9;
length: 164
go: ENSG00000133321;
snps: rs35502888 rs35845275
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
name:
Retinoic acid receptor responder protein 3 (EC 3.1.1.-) (HRAS-like suppressor 4) (HRSL4) (RAR-responsive protein TIG3) (Retinoid-inducible gene 1 protein) (Tazarotene-induced gene 3 protein)

sequence:
MASPHQEPKPGDLIEIFRLGYEHWALYIGDGYVIHLAPPSEYPGAGSSSVFSVLSNSAEVKRERLEDVVGGCCYRVNNSLDHEYQPRPVEVIISSAKEMVGQKMKYSIVSRNCEHFVTQLRYGKSRCKQVEKAKVEVGVATALGILVVAGCSFAIRRYQKKATA

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; phospholipase A2 activity [GO:0004623]; transferase activity, transferring acyl groups [GO:0016746]; lipid catabolic process [GO:0016042]; negative regulation of cell proliferation [GO:0008285]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UL19-1; Sequence=Displayed; Name=2; IsoId=Q9UL19-2; Sequence=VSP_041496; Note=No experimental confirmation available.; 


uniprotID: O43390
geneSymbol: HNRNPR
reactome: R-HSA-72163;R-HSA-72203;
pdb: 2DK2;
name: Heterogeneous nuclear ribonucleoprotein R (hnRNP R)
length: 633
go: ENSG00000125944;
sequence:

opentargets:
axon terminus [GO:0043679]; catalytic step 2 spliceosome [GO:0071013]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; growth cone [GO:0030426]; nucleoplasm [GO:0005654]; ribonucleoprotein complex [GO:1990904]; spliceosomal complex [GO:0005681]; mRNA 3'-UTR binding [GO:0003730]; RNA binding [GO:0003723]; circadian rhythm [GO:0007623]; mRNA destabilization [GO:0061157]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of catalytic activity [GO:0043086]; RNA metabolic process [GO:0016070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O43390-1; Sequence=Displayed; Name=2; IsoId=O43390-2; Sequence=VSP_038360; Name=3; Synonyms=hnRNP-R2; IsoId=O43390-3; Sequence=VSP_047647; Note=Expression is low and neural-specific.; Name=4; IsoId=O43390-4; Sequence=VSP_054703, VSP_038360; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q7TMK9}. Microsome {ECO:0000250|UniProtKB:Q7TMK9}. Nucleus, nucleoplasm {ECO:0000269|PubMed:17289661}. Cytoplasm {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. The tyrosine phosphorylated form bound to RNA is found in microsomes (By similarity). {ECO:0000250|UniProtKB:Q7TMK9, ECO:0000269|PubMed:17289661}.


uniprotID: P41235
geneSymbol: HNF4A
reactome: R-HSA-210745;R-HSA-383280;
pdb: 1PZL;3CBB;3FS1;4B7W;4IQR;
length: 474
go: ENSG00000101076;
drug: DB05447;DB03017;DB08231;
snps: rs587777732 rs137853336 rs1800961 rs139779712 rs137853338 rs137853337 rs1063239 rs776824742
location: SUBCELLULAR LOCATION: Nucleus.
name:
Hepatocyte nuclear factor 4-alpha (HNF-4-alpha) (Nuclear receptor subfamily 2 group A member 1) (Transcription factor 14) (TCF-14) (Transcription factor HNF-4)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; fatty acid binding [GO:0005504]; nuclear receptor activity [GO:0004879]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; signaling receptor binding [GO:0005102]; steroid hormone receptor activity [GO:0003707]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; blood coagulation [GO:0007596]; cholesterol homeostasis [GO:0042632]; glucose homeostasis [GO:0042593]; hepatocyte differentiation [GO:0070365]; lipid homeostasis [GO:0055088]; lipid metabolic process [GO:0006629]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; ornithine metabolic process [GO:0006591]; phospholipid homeostasis [GO:0055091]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of gastrulation [GO:0010470]; regulation of growth hormone receptor signaling pathway [GO:0060398]; regulation of insulin secretion [GO:0050796]; regulation of lipid metabolic process [GO:0019216]; regulation of transcription by RNA polymerase II [GO:0006357]; response to glucose [GO:0009749]; sex differentiation [GO:0007548]; signal transduction involved in regulation of gene expression [GO:0023019]; SMAD protein signal transduction [GO:0060395]; transcription initiation from RNA polymerase II promoter [GO:0006367]; triglyceride homeostasis [GO:0070328]; type B pancreatic cell development [GO:0003323]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=HNF4-Alpha-1; Synonyms=HNF-4B; IsoId=P41235-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=HNF4-Alpha-2; Synonyms=HNF4-A; IsoId=P41235-2; Sequence=VSP_003674; Note=Produced by alternative splicing of isoform HNF4-Alpha-1.; Name=HNF4-Alpha-3; Synonyms=HNF4-C; IsoId=P41235-3; Sequence=VSP_003675; Note=Produced by alternative splicing of isoform HNF4-Alpha-1.; Name=HNF4-Alpha-4; IsoId=P41235-4; Sequence=VSP_003673; Note=Produced by alternative splicing of isoform HNF4-Alpha-1.; Name=HNF4-Alpha-7; IsoId=P41235-5; Sequence=VSP_026030; Note=Produced by alternative promoter usage.; Name=HNF4-Alpha-8; IsoId=P41235-6; Sequence=VSP_026030, VSP_003674; Note=Produced by alternative splicing of isoform HNF4-Alpha-7.; Name=HNF4-Alpha-9; IsoId=P41235-7; Sequence=VSP_026030, VSP_003675; Note=Produced by alternative splicing of isoform HNF4-Alpha-7.; 


uniprotID: Q9BR39
geneSymbol: JPH2
name: Junctophilin-2 (JP-2) (Junctophilin type 2)
length: 696
go: ENSG00000149596;
snps: rs387906897 rs387906898 rs3810510 rs1326977511 rs140740776
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; junctional membrane complex [GO:0030314]; junctional sarcoplasmic reticulum membrane [GO:0014701]; plasma membrane [GO:0005886]; sarcoplasmic reticulum [GO:0016529]; Z disc [GO:0030018]; calcium-release channel activity [GO:0015278]; phosphatidic acid binding [GO:0070300]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylinositol-5-phosphate binding [GO:0010314]; phosphatidylserine binding [GO:0001786]; calcium ion homeostasis [GO:0055074]; calcium ion transport into cytosol [GO:0060402]; positive regulation of ryanodine-sensitive calcium-release channel activity [GO:0060316]; regulation of cardiac muscle tissue development [GO:0055024]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BR39-1; Sequence=Displayed; Name=2; IsoId=Q9BR39-2; Sequence=VSP_002785, VSP_002786; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Sarcoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In heart cells, it predominantly associates along Z lines within myocytes. In skeletal muscle, it is specifically localized at the junction of A and I bands (By similarity). {ECO:0000250}.


uniprotID: P08238
geneSymbol: HSP90AB1
pdb: 1QZ2;1UYM;2L6J;3FWV;3NMQ;3PRY;3UQ3;5FWK;5FWL;5FWM;5FWP;5UC4;5UCH;5UCI;5UCJ;
name: Heat shock protein HSP 90-beta (HSP 90) (Heat shock 84 kDa) (HSP 84) (HSP84)
length: 724
go: ENSG00000096384;
drug: DB05134;DB02424;DB03758;DB06070;
snps: rs11538975
reactome:
R-HSA-2029482;R-HSA-3371497;R-HSA-3371511;R-HSA-3371568;R-HSA-3371571;R-HSA-399954;R-HSA-5336415;R-HSA-6798695;R-HSA-844456;R-HSA-8852276;R-HSA-8937144;R-HSA-8939211;R-HSA-9018519;

sequence:

opentargets:
apical plasma membrane [GO:0016324]; aryl hydrocarbon receptor complex [GO:0034751]; axonal growth cone [GO:0044295]; basolateral plasma membrane [GO:0016323]; brush border membrane [GO:0031526]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic growth cone [GO:0044294]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; HSP90-CDC37 chaperone complex [GO:1990565]; inclusion body [GO:0016234]; lysosomal membrane [GO:0005765]; melanosome [GO:0042470]; membrane [GO:0016020]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ooplasm [GO:1990917]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; secretory granule lumen [GO:0034774]; sperm head plasma membrane [GO:1990913]; ATP binding [GO:0005524]; ATP-dependent protein binding [GO:0043008]; ATPase activity, coupled [GO:0042623]; cadherin binding [GO:0045296]; CTP binding [GO:0002135]; dATP binding [GO:0032564]; disordered domain specific binding [GO:0097718]; DNA polymerase binding [GO:0070182]; double-stranded RNA binding [GO:0003725]; GTP binding [GO:0005525]; heat shock protein binding [GO:0031072]; histone deacetylase binding [GO:0042826]; histone methyltransferase binding [GO:1990226]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; kinase binding [GO:0019900]; MHC class II protein complex binding [GO:0023026]; nitric-oxide synthase regulator activity [GO:0030235]; peptide binding [GO:0042277]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein kinase regulator activity [GO:0019887]; RNA binding [GO:0003723]; sulfonylurea receptor binding [GO:0017098]; tau protein binding [GO:0048156]; TPR domain binding [GO:0030911]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; UTP binding [GO:0002134]; axon extension [GO:0048675]; cellular response to drug [GO:0035690]; cellular response to interleukin-4 [GO:0071353]; cellular response to organic cyclic compound [GO:0071407]; central nervous system neuron axonogenesis [GO:0021955]; chaperone-mediated protein complex assembly [GO:0051131]; establishment of cell polarity [GO:0030010]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of complement-dependent cytotoxicity [GO:1903660]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of proteasomal protein catabolic process [GO:1901799]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein metabolic process [GO:0051248]; negative regulation of transforming growth factor beta activation [GO:1901389]; neutrophil degranulation [GO:0043312]; placenta development [GO:0001890]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell size [GO:0045793]; positive regulation of cyclin-dependent protein kinase activity [GO:1904031]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of protein binding [GO:0032092]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein localization to cell surface [GO:2000010]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of tau-protein kinase activity [GO:1902949]; positive regulation of telomerase activity [GO:0051973]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; protein folding [GO:0006457]; protein stabilization [GO:0050821]; regulation of cellular protein localization [GO:1903827]; regulation of cellular response to heat [GO:1900034]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; regulation of protein ubiquitination [GO:0031396]; regulation of type I interferon-mediated signaling pathway [GO:0060338]; response to cocaine [GO:0042220]; response to salt stress [GO:0009651]; response to unfolded protein [GO:0006986]; supramolecular fiber organization [GO:0097435]; telomerase holoenzyme complex assembly [GO:1905323]; telomere maintenance via telomerase [GO:0007004]; virion attachment to host cell [GO:0019062]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16580629, ECO:0000269|PubMed:18239673, ECO:0000269|PubMed:24880080, ECO:0000269|PubMed:9482106}. Melanosome {ECO:0000269|PubMed:17081065}. Nucleus {ECO:0000269|PubMed:18239673}. Secreted {ECO:0000269|PubMed:20599762}. Cell membrane {ECO:0000269|PubMed:20599762}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). Translocates with BIRC2 from the nucleus to the cytoplasm during differentiation (PubMed:18239673). Secreted when associated with TGFB1 processed form (LAP) (PubMed:20599762). {ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:18239673, ECO:0000269|PubMed:20599762}.


uniprotID: Q9Y5N1
geneSymbol: HRH3
reactome: R-HSA-390650;R-HSA-418594;
name: Histamine H3 receptor (H3R) (HH3R) (G-protein coupled receptor 97)
length: 445
go: ENSG00000101180;
drug: DB06698;DB05381;DB00370;DB05080;
snps: rs752380770
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; G protein-coupled acetylcholine receptor activity [GO:0016907]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; histamine receptor activity [GO:0004969]; neurotransmitter receptor activity [GO:0030594]; adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway [GO:0007197]; chemical synaptic transmission [GO:0007268]; cognition [GO:0050890]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; negative regulation of glutamate secretion [GO:0014050]; negative regulation of serotonin secretion [GO:0014063]; neurotransmitter secretion [GO:0007269]; regulation of norepinephrine secretion [GO:0014061]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9Y5N1-1; Sequence=Displayed; Name=2; IsoId=Q9Y5N1-2; Sequence=VSP_001886; Name=3; Synonyms=H3S; IsoId=Q9Y5N1-3; Sequence=VSP_001885; Name=4; IsoId=Q9Y5N1-4; Sequence=VSP_001881; Name=5; IsoId=Q9Y5N1-5; Sequence=VSP_001882; Name=6; IsoId=Q9Y5N1-6; Sequence=VSP_001883; Name=7; IsoId=Q9Y5N1-7; Sequence=VSP_001884; 


uniprotID: P0DMV9
geneSymbol: HSPA1B
reactome: R-HSA-3371453;R-HSA-3371497;R-HSA-3371568;R-HSA-3371571;R-HSA-6798695;
pdb: 4J8F;6FDT;
name: Heat shock 70 kDa protein 1B (Heat shock 70 kDa protein 2) (HSP70-2) (HSP70.2)
length: 641
go: ENSG00000204388;ENSG00000204389;
snps: rs538280104 rs483638
sequence:

opentargets:
aggresome [GO:0016235]; blood microparticle [GO:0072562]; centriole [GO:0005814]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; inclusion body [GO:0016234]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; ribonucleoprotein complex [GO:1990904]; vesicle [GO:0031982]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; C3HC4-type RING finger domain binding [GO:0055131]; enzyme binding [GO:0019899]; G protein-coupled receptor binding [GO:0001664]; heat shock protein binding [GO:0031072]; histone deacetylase binding [GO:0042826]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; protein N-terminus binding [GO:0047485]; RNA binding [GO:0003723]; signaling receptor binding [GO:0005102]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; virus receptor activity [GO:0001618]; ATP metabolic process [GO:0046034]; cellular heat acclimation [GO:0070370]; cellular response to heat [GO:0034605]; cellular response to oxidative stress [GO:0034599]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; mRNA catabolic process [GO:0006402]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell death [GO:0060548]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of inclusion body assembly [GO:0090084]; negative regulation of protein ubiquitination [GO:0031397]; neutrophil degranulation [GO:0043312]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of microtubule nucleation [GO:0090063]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070434]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of tumor necrosis factor-mediated signaling pathway [GO:1903265]; protein refolding [GO:0042026]; protein stabilization [GO:0050821]; regulation of cellular response to heat [GO:1900034]; regulation of mitotic spindle assembly [GO:1901673]; regulation of protein ubiquitination [GO:0031396]; response to unfolded protein [GO:0006986]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17289661}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27137183}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.


uniprotID: P50135
geneSymbol: HNMT
reactome: R-HSA-2408508;R-HSA-70921;
pdb: 1ICZ;1JQD;1JQE;2AOT;2AOU;2AOV;2AOW;2AOX;
name: Histamine N-methyltransferase (HMT) (EC 2.1.1.8)
length: 292
go: ENSG00000150540;
drug: DB07106;DB00613;DB00878;DB05381;DB01103;DB01752;
snps: rs758252808 rs11558538 rs745756308
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26206890}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; neuron projection [GO:0043005]; histamine N-methyltransferase activity [GO:0046539]; brain development [GO:0007420]; histamine catabolic process [GO:0001695]; histidine catabolic process [GO:0006548]; methylation [GO:0032259]; respiratory gaseous exchange [GO:0007585]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P50135-1; Sequence=Displayed; Name=2; Synonyms=HNMT-S; IsoId=P50135-2; Sequence=VSP_042027; Note=Has no histamine-methylating activity.; Name=3; IsoId=P50135-3; Sequence=VSP_043482, VSP_043483; Note=No experimental confirmation available.; 


uniprotID: Q9Y663
geneSymbol: HS3ST3A1
reactome: R-HSA-2022928;
pdb: 1T8T;1T8U;
length: 406
go: ENSG00000153976;
drug: DB01812;DB04272;DB02264;
name:
Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 (EC 2.8.2.30) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1) (3-OST-3A) (Heparan sulfate 3-O-sulfotransferase 3A1) (h3-OST-3A)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity [GO:0008467]; [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity [GO:0033872]; sulfotransferase activity [GO:0008146]; glycosaminoglycan biosynthetic process [GO:0006024]


uniprotID: P04259
geneSymbol: KRT6B
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type II cytoskeletal 6B (Cytokeratin-6B) (CK-6B) (Keratin-6B) (K6B) (Type-II keratin Kb10)
length: 564
go: ENSG00000185479;
snps: rs428894 rs652423 rs437014 rs60627726
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; keratin filament [GO:0045095]; structural constituent of cytoskeleton [GO:0005200]; cornification [GO:0070268]; ectoderm development [GO:0007398]; keratinization [GO:0031424]


uniprotID: Q2M2I5
geneSymbol: KRT24
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 24 (Cytokeratin-24) (CK-24) (Keratin-24) (K24) (Type I keratin-24)
length: 525
go: ENSG00000167916;
snps: rs9914185 rs7211480 rs874889 rs16966138 rs12945784 rs12946793 rs2462961
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: Q3SY84
geneSymbol: KRT71
reactome: R-HSA-6805567;R-HSA-6809371;
length: 523
go: ENSG00000139648;
snps: rs665522 rs665470 rs587777545 rs35988863 rs10783518 rs2292506
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22592156}.
name:
Keratin, type II cytoskeletal 71 (Cytokeratin-71) (CK-71) (Keratin-71) (K71) (Type II inner root sheath-specific keratin-K6irs1) (Keratin 6 irs) (hK6irs) (hK6irs1) (Type-II keratin Kb34)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; hair follicle morphogenesis [GO:0031069]; intermediate filament organization [GO:0045109]; keratinization [GO:0031424]


uniprotID: Q7RTS7
geneSymbol: KRT74
reactome: R-HSA-6805567;R-HSA-6809371;
length: 529
go: ENSG00000170484;
snps: rs267607205 rs11170177 rs11170176 rs670741 rs147962513 rs57387512 rs57711382 rs267607477
name:
Keratin, type II cytoskeletal 74 (Cytokeratin-74) (CK-74) (Keratin-5c) (K5C) (Keratin-74) (K74) (Type II inner root sheath-specific keratin-K6irs4) (Type-II keratin Kb37)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; keratin filament [GO:0045095]; keratin filament binding [GO:1990254]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; intermediate filament cytoskeleton organization [GO:0045104]; keratinization [GO:0031424]


uniprotID: Q6ICG6
geneSymbol: KIAA0930
name: Uncharacterized protein KIAA0930
length: 404
go: ENSG00000100364;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ICG6-1; Sequence=Displayed; Name=2; IsoId=Q6ICG6-2; Sequence=VSP_021309; Note=No experimental confirmation available.; Name=3; IsoId=Q6ICG6-3; Sequence=VSP_021310; Note=No experimental confirmation available.; 


uniprotID: P27144
geneSymbol: AK4
reactome: R-HSA-499943;
pdb: 2AR7;2BBW;3NDP;
length: 223
go: ENSG00000162433;
drug: DB00718;DB00300;
name:
Adenylate kinase 4, mitochondrial (AK 4) (EC 2.7.4.10) (EC 2.7.4.6) (Adenylate kinase 3-like) (GTP:AMP phosphotransferase AK4)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; adenylate kinase activity [GO:0004017]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; nucleoside diphosphate kinase activity [GO:0004550]; nucleoside monophosphate kinase activity [GO:0050145]; nucleoside triphosphate adenylate kinase activity [GO:0046899]; ADP biosynthetic process [GO:0006172]; AMP metabolic process [GO:0046033]; ATP metabolic process [GO:0046034]; brain development [GO:0007420]; GTP metabolic process [GO:0046039]; liver development [GO:0001889]; nucleobase-containing small molecule interconversion [GO:0015949]; nucleoside diphosphate phosphorylation [GO:0006165]; nucleoside triphosphate biosynthetic process [GO:0009142]; response to drug [GO:0042493]

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000255|HAMAP-Rule:MF_03170, ECO:0000269|PubMed:11485571, ECO:0000269|PubMed:19766732}.


uniprotID: Q9HCM1
geneSymbol: KIAA1551
name: Uncharacterized protein KIAA1551
length: 1747
go: ENSG00000174718;
sequence:

snps:
rs7298803 rs2388981 rs61353224 rs12320740 rs2166807 rs16919122 rs3207618 rs10771894 rs3759302 rs3759301 rs3809228 rs16919127 rs3759299 rs1057994 rs3759296 rs56682866 


uniprotID: Q9BY89
geneSymbol: KIAA1671
name: Uncharacterized protein KIAA1671
length: 1806
go: ENSG00000197077;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BY89-1; Sequence=Displayed; Name=2; IsoId=Q9BY89-2; Sequence=VSP_025337, VSP_025338; 


uniprotID: Q7Z794
geneSymbol: KRT77
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type II cytoskeletal 1b (Cytokeratin-1B) (CK-1B) (Keratin-77) (K77) (Type-II keratin Kb39)
length: 578
go: ENSG00000189182;
snps: rs17118224
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: P04264
geneSymbol: KRT1
reactome: R-HSA-6798695;R-HSA-6805567;R-HSA-6809371;
pdb: 4ZRY;
length: 644
go: ENSG00000167768;
name:
Keratin, type II cytoskeletal 1 (67 kDa cytokeratin) (Cytokeratin-1) (CK-1) (Hair alpha protein) (Keratin-1) (K1) (Type-II keratin Kb1)

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; cornified envelope [GO:0001533]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; keratin filament [GO:0045095]; membrane [GO:0016020]; nucleus [GO:0005634]; carbohydrate binding [GO:0030246]; protein heterodimerization activity [GO:0046982]; signaling receptor activity [GO:0038023]; structural constituent of epidermis [GO:0030280]; complement activation, lectin pathway [GO:0001867]; cornification [GO:0070268]; establishment of skin barrier [GO:0061436]; fibrinolysis [GO:0042730]; keratinization [GO:0031424]; negative regulation of inflammatory response [GO:0050728]; neutrophil degranulation [GO:0043312]; peptide cross-linking [GO:0018149]; protein heterotetramerization [GO:0051290]; regulation of angiogenesis [GO:0045765]; response to oxidative stress [GO:0006979]; retina homeostasis [GO:0001895]

snps:
rs57977969 rs57959072 rs57959072 rs57695159 rs60022878 rs59429455 rs58928370 rs58928370 rs60937700 rs61549035 rs58062863 rs1050872 rs17678945 rs59089201 rs61218439 rs57837128 rs58420087 rs267607430 rs56914602 rs60279707 rs60279707 rs14024 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17956333}. Note=Located on plasma membrane of neuroblastoma NMB7 cells.


uniprotID: Q8NHM5
geneSymbol: KDM2B
reactome: R-HSA-3214842;
pdb: 4O64;5JH5;6BVA;
length: 1336
go: ENSG00000089094;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:17994099}.
name:
Lysine-specific demethylase 2B (EC 1.14.11.27) (CXXC-type zinc finger protein 2) (F-box and leucine-rich repeat protein 10) (F-box protein FBL10) (F-box/LRR-repeat protein 10) (JmjC domain-containing histone demethylation protein 1B) (Jumonji domain-containing EMSY-interactor methyltransferase motif protein) (Protein JEMMA) (Protein-containing CXXC domain 2) ([Histone-H3]-lysine-36 demethylase 1B)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K36 specific) [GO:0051864]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; rRNA binding [GO:0019843]; zinc ion binding [GO:0008270]; embryonic camera-type eye morphogenesis [GO:0048596]; forebrain development [GO:0030900]; fourth ventricle development [GO:0021592]; hindbrain development [GO:0030902]; histone H2A monoubiquitination [GO:0035518]; initiation of neural tube closure [GO:0021993]; lateral ventricle development [GO:0021670]; midbrain development [GO:0030901]; midbrain-hindbrain boundary morphogenesis [GO:0021555]; negative regulation of neural precursor cell proliferation [GO:2000178]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell growth [GO:0030307]; positive regulation of stem cell population maintenance [GO:1902459]; spermatogenesis [GO:0007283]; third ventricle development [GO:0021678]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NHM5-1; Sequence=Displayed; Name=2; IsoId=Q8NHM5-2; Sequence=VSP_011340, VSP_011341; Name=3; IsoId=Q8NHM5-3; Sequence=VSP_017475, VSP_017476; Note=No experimental confirmation available.; Name=4; IsoId=Q8NHM5-4; Sequence=VSP_043146, VSP_043147, VSP_043148; Note=No experimental confirmation available.; Name=5; IsoId=Q8NHM5-5; Sequence=VSP_057394, VSP_057395, VSP_057396; Note=No experimental confirmation available.; 


uniprotID: Q14541
geneSymbol: HNF4G
reactome: R-HSA-210745;R-HSA-383280;
pdb: 1LV2;
name: Hepatocyte nuclear factor 4-gamma (HNF-4-gamma) (Nuclear receptor subfamily 2 group A member 2)
length: 408
go: ENSG00000164749;
drug: DB03796;
snps: rs1805098
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14541-1; Sequence=Displayed; Name=2; IsoId=Q14541-2; Sequence=VSP_037691; 


uniprotID: Q96KN8
geneSymbol: HRASLS5
reactome: R-HSA-1482839;
length: 279
go: ENSG00000168004;
snps: rs10897424 rs940611 rs35735923 rs35375575
name:
Ca(2+)-independent N-acyltransferase (iNAT) (EC 2.3.1.-) (H-rev107-like protein 5) (HRAS-like suppressor 5) (HRSL5)

sequence:

opentargets:
N-acyltransferase activity [GO:0016410]; N-acylphosphatidylethanolamine metabolic process [GO:0070292]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96KN8-1; Sequence=Displayed; Name=2; IsoId=Q96KN8-2; Sequence=VSP_045826; Note=No experimental confirmation available.; Name=3; IsoId=Q96KN8-3; Sequence=VSP_045825; Note=No experimental confirmation available.; 


uniprotID: O75506
geneSymbol: HSBP1
reactome: R-HSA-3371511;R-HSA-3371568;R-HSA-3371571;
pdb: 3CI9;
name: Heat shock factor-binding protein 1 (Nasopharyngeal carcinoma-associated antigen 13) (NPC-A-13)
sequence: MAETDPKTVQDLTSVVQTLLQQMQDKFQTMSDQIIGRIDDMSSRIDDLEKNIADLMTQAGVEELESENKIPATQKS
length: 76
go: ENSG00000230989;
location: SUBCELLULAR LOCATION: Nucleus.
opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; transcription corepressor activity [GO:0003714]; cellular heat acclimation [GO:0070370]; endodermal cell differentiation [GO:0035987]; muscle contraction [GO:0006936]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of cellular response to heat [GO:1900034]


uniprotID: Q8IZT8
geneSymbol: HS3ST5
reactome: R-HSA-2022928;
pdb: 3BD9;
length: 346
go: ENSG00000249853;
snps: rs17793043
name:
Heparan sulfate glucosamine 3-O-sulfotransferase 5 (EC 2.8.2.23) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5) (3-OST-5) (Heparan sulfate 3-O-sulfotransferase 5) (h3-OST-5)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; 3'-phosphoadenosine 5'-phosphosulfate binding [GO:0050656]; [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity [GO:0008467]; glycosaminoglycan biosynthetic process [GO:0006024]; heparan sulfate proteoglycan biosynthetic process, enzymatic modification [GO:0015015]; negative regulation of coagulation [GO:0050819]; protein sulfation [GO:0006477]; regulation of viral entry into host cell [GO:0046596]


uniprotID: Q12988
geneSymbol: HSPB3
pdb: 6F2R;
name: Heat shock protein beta-3 (HspB3) (Heat shock 17 kDa protein) (HSP 17) (Protein 3)
length: 150
go: ENSG00000169271;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]; response to unfolded protein [GO:0006986]
snps: rs139382018 rs35258119
sequence:
MAKIILRHLIEIPVRYQEEFEARGLEDCRLDHALYALPGPTIVDLRKTRAAQSPPVDSAAETPPREGKSHFQILLDVVQFLPEDIIIQTFEGWLLIKAQHGTRMDEHGFISRSFTRQYKLPDGVEIKDLSAVLCHDGILVVEVKDPVGTK

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}. Nucleus {ECO:0000269|PubMed:19464326}. Note=Translocates to nuclear foci during heat shock.


uniprotID: P48741
geneSymbol: HSPA7
reactome: R-HSA-3371453;
name: Putative heat shock 70 kDa protein 7 (Heat shock 70 kDa protein B)
length: 367
sequence:

opentargets:
blood microparticle [GO:0072562]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; heat shock protein binding [GO:0031072]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; unfolded protein binding [GO:0051082]; cellular response to heat [GO:0034605]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; protein refolding [GO:0042026]; response to unfolded protein [GO:0006986]


uniprotID: Q8IVG9
geneSymbol: MT-RNR2
reactome: R-HSA-416476;R-HSA-418594;R-HSA-444473;
pdb: 1Y32;2GD3;5GIW;
name: Humanin (Humanin mitochondrial) (HNM)
sequence: MAPRGFSCLLLLTSEIDLPVKRRA
length: 24
opentargets:
extracellular region [GO:0005576]; mitochondrion [GO:0005739]; perinuclear region of cytoplasm [GO:0048471]; receptor antagonist activity [GO:0048019]; signaling receptor binding [GO:0005102]; apoptotic process [GO:0006915]; cellular iron ion homeostasis [GO:0006879]; G protein-coupled receptor signaling pathway [GO:0007186]; leukocyte chemotaxis [GO:0030595]; negative regulation of apoptotic process [GO:0043066]; negative regulation of execution phase of apoptosis [GO:1900118]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11371646}. Cytoplasm {ECO:0000269|PubMed:11371646, ECO:0000269|PubMed:12670303}.


uniprotID: Q86VZ6
geneSymbol: JAZF1
length: 243
go: ENSG00000153814;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15302918}.
name:
Juxtaposed with another zinc finger protein 1 (TAK1-interacting protein 27) (Zinc finger protein 802)

sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; transcription corepressor activity [GO:0003714]; lipid metabolic process [GO:0006629]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VZ6-1; Sequence=Displayed; Name=2; IsoId=Q86VZ6-2; Sequence=VSP_007755; Note=Incomplete sequence. No experimental confirmation available.; 


uniprotID: P02538
geneSymbol: KRT6A
reactome: R-HSA-6805567;R-HSA-6809371;
pdb: 5KI0;
length: 564
go: ENSG00000205420;
name:
Keratin, type II cytoskeletal 6A (Cytokeratin-6A) (CK-6A) (Cytokeratin-6D) (CK-6D) (Keratin-6A) (K6A) (Type-II keratin Kb6) (allergen Hom s 5)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; keratin filament [GO:0045095]; membrane [GO:0016020]; nucleus [GO:0005634]; structural constituent of cytoskeleton [GO:0005200]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell differentiation [GO:0030154]; cornification [GO:0070268]; cytolysis in other organism involved in symbiotic interaction [GO:0051801]; defense response to Gram-positive bacterium [GO:0050830]; keratinization [GO:0031424]; morphogenesis of an epithelium [GO:0002009]; negative regulation of cytolysis by symbiont of host cells [GO:0001899]; negative regulation of entry of bacterium into host cell [GO:2000536]; positive regulation of cell proliferation [GO:0008284]; wound healing [GO:0042060]

snps:
rs17845411 rs681063 rs62635293 rs267607460 rs57126929 rs57448541 rs62635294 rs59685571 rs58556099 rs62635294 rs61145796 rs61145796 rs28933087 rs59642296 rs267607461 rs57629991 rs57629991 rs267607462 rs61293647 rs267607463 rs59018888 rs59018888 rs57052654 rs57052654 rs60554162 


uniprotID: Q6UXG2
geneSymbol: KIAA1324
name: UPF0577 protein KIAA1324 (Estrogen-induced gene 121 protein)
length: 1013
go: ENSG00000116299;
snps: rs678238 rs659543 rs1052878
sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; RNA binding [GO:0003723]; autophagosome assembly [GO:0000045]; cellular response to starvation [GO:0009267]; positive regulation of autophagosome assembly [GO:2000786]; positive regulation of vacuole organization [GO:0044090]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6UXG2-1; Sequence=Displayed; Name=2; IsoId=Q6UXG2-2; Sequence=VSP_025116; Name=3; IsoId=Q6UXG2-3; Sequence=VSP_025115; Name=4; IsoId=Q6UXG2-4; Sequence=VSP_025117; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21072319}; Single-pass type I membrane protein {ECO:0000269|PubMed:21072319}. Late endosome membrane {ECO:0000269|PubMed:21072319}; Single-pass type I membrane protein {ECO:0000269|PubMed:21072319}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:21072319}; Single-pass type I membrane protein {ECO:0000269|PubMed:21072319}. Lysosome membrane {ECO:0000269|PubMed:21072319}; Single-pass membrane protein {ECO:0000269|PubMed:21072319}.


uniprotID: Q86Y46
geneSymbol: KRT73
reactome: R-HSA-6805567;R-HSA-6809371;
length: 540
go: ENSG00000186049;
snps: rs35417182 rs659436 rs1210935768 rs142246988 rs607426
name:
Keratin, type II cytoskeletal 73 (Cytokeratin-73) (CK-73) (Keratin-73) (K73) (Type II inner root sheath-specific keratin-K6irs3) (Type-II keratin Kb36)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; keratin filament [GO:0045095]; nucleus [GO:0005634]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86Y46-1; Sequence=Displayed; Name=2; IsoId=Q86Y46-2; Sequence=VSP_030417, VSP_030418; Note=No experimental confirmation available.; 


uniprotID: Q14722
geneSymbol: KCNAB1
reactome: R-HSA-1296072;
length: 419
go: ENSG00000169282;
name:
Voltage-gated potassium channel subunit beta-1 (EC 1.1.1.-) (K(+) channel subunit beta-1) (Kv-beta-1)

sequence:

opentargets:
cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; juxtaparanode region of axon [GO:0044224]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; potassium channel complex [GO:0034705]; proximal dendrite [GO:1990635]; voltage-gated potassium channel complex [GO:0008076]; aldo-keto reductase (NADP) activity [GO:0004033]; ion channel binding [GO:0044325]; NADPH binding [GO:0070402]; potassium channel regulator activity [GO:0015459]; protein domain specific binding [GO:0019904]; voltage-gated potassium channel activity [GO:0005249]; brain development [GO:0007420]; diaphragm development [GO:0060539]; heart development [GO:0007507]; learning or memory [GO:0007611]; myoblast differentiation [GO:0045445]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; negative regulation of voltage-gated potassium channel activity [GO:1903817]; oxidation-reduction process [GO:0055114]; potassium ion transport [GO:0006813]; regulation of delayed rectifier potassium channel activity [GO:1902259]; regulation of potassium ion transmembrane transport [GO:1901379]; skeletal muscle tissue development [GO:0007519]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=KvB1.3; IsoId=Q14722-1; Sequence=Displayed; Name=KvB1.1; IsoId=Q14722-2; Sequence=VSP_001051; Name=KvB1.2; IsoId=Q14722-3; Sequence=VSP_001050; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17540341}. Membrane {ECO:0000250|UniProtKB:P63144}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:17540341}; Peripheral membrane protein {ECO:0000269|PubMed:17540341}; Cytoplasmic side {ECO:0000269|PubMed:17540341}. Note=Recruited to the cytoplasmic side of the cell membrane via its interaction with pore-forming potassium channel alpha subunits. {ECO:0000269|PubMed:17540341}.


uniprotID: Q13976
geneSymbol: PRKG1
reactome: R-HSA-392517;R-HSA-4086398;R-HSA-418457;
pdb: 1ZXA;3NMD;3OCP;3OD0;3OGJ;4KU7;4KU8;4QX5;4QXK;4R4L;4R4M;4Z07;5J48;5JAX;5JD7;5L0N;6C0T;
length: 671
go: ENSG00000185532;
snps: rs397515330 rs56082459 rs34997494 rs149710600 rs750949508
name:
cGMP-dependent protein kinase 1 (cGK 1) (cGK1) (EC 2.7.11.12) (cGMP-dependent protein kinase I) (cGKI)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calcium channel regulator activity [GO:0005246]; cGMP binding [GO:0030553]; cGMP-dependent protein kinase activity [GO:0004692]; identical protein binding [GO:0042802]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton organization [GO:0030036]; cGMP-mediated signaling [GO:0019934]; dendrite development [GO:0016358]; forebrain development [GO:0030900]; negative regulation of platelet aggregation [GO:0090331]; negative regulation of vascular associated smooth muscle cell migration [GO:1904753]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; neuron migration [GO:0001764]; protein phosphorylation [GO:0006468]; regulation of GTPase activity [GO:0043087]; relaxation of vascular smooth muscle [GO:0060087]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha; Synonyms=CGK1-alpha; IsoId=Q13976-1; Sequence=Displayed; Name=Beta; Synonyms=CGK1-beta; IsoId=Q13976-2, P14619-1; Sequence=VSP_038714; Name=3; IsoId=Q13976-3; Sequence=VSP_055541, VSP_055542; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=Colocalized with TRPC7 in the plasma membrane. {ECO:0000250}.


uniprotID: P08648
geneSymbol: ITGA5
reactome: R-HSA-1566948;R-HSA-1566977;R-HSA-202733;R-HSA-216083;R-HSA-445144;R-HSA-8941332;
pdb: 3VI3;3VI4;4WJK;4WK0;4WK2;4WK4;
length: 1049
go: ENSG00000161638;
snps: rs12318746
name:
Integrin alpha-5 (CD49 antigen-like family member E) (Fibronectin receptor subunit alpha) (Integrin alpha-F) (VLA-5) (CD antigen CD49e) [Cleaved into: Integrin alpha-5 heavy chain; Integrin alpha-5 light chain]

sequence:

opentargets:
alphav-beta3 integrin-vitronectin complex [GO:0071062]; cell surface [GO:0009986]; cytoplasmic vesicle [GO:0031410]; endoplasmic reticulum [GO:0005783]; external side of plasma membrane [GO:0009897]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; synapse [GO:0045202]; epidermal growth factor receptor binding [GO:0005154]; integrin binding [GO:0005178]; metal ion binding [GO:0046872]; platelet-derived growth factor receptor binding [GO:0005161]; vascular endothelial growth factor receptor 2 binding [GO:0043184]; virus receptor activity [GO:0001618]; angiogenesis [GO:0001525]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell-cell adhesion mediated by integrin [GO:0033631]; cell-substrate adhesion [GO:0031589]; cell-substrate junction assembly [GO:0007044]; endodermal cell differentiation [GO:0035987]; extracellular matrix organization [GO:0030198]; female pregnancy [GO:0007565]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; heterotypic cell-cell adhesion [GO:0034113]; integrin-mediated signaling pathway [GO:0007229]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; memory [GO:0007613]; negative regulation of anoikis [GO:2000811]; positive regulation of cell migration [GO:0030335]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of sprouting angiogenesis [GO:1903672]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; wound healing, spreading of epidermal cells [GO:0035313]

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Cell junction, focal adhesion {ECO:0000269|PubMed:17158881}. Cell surface {ECO:0000269|PubMed:17158881}.


uniprotID: Q6ZMV9
geneSymbol: KIF6
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF6
length: 814
go: ENSG00000164627;
snps: rs2273063 rs20455
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; kinesin complex [GO:0005871]; male germ cell nucleus [GO:0001673]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; microtubule-based movement [GO:0007018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZMV9-1; Sequence=Displayed; Name=2; IsoId=Q6ZMV9-2; Sequence=VSP_014468; Name=3; IsoId=Q6ZMV9-3; Sequence=VSP_014471; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZMV9-4; Sequence=VSP_014468, VSP_014469, VSP_014470; Note=No experimental confirmation available.; 


uniprotID: P26010
geneSymbol: ITGB7
reactome: R-HSA-198933;R-HSA-216083;
pdb: 2BRQ;3V4P;3V4V;
name: Integrin beta-7 (Gut homing receptor beta subunit)
length: 798
go: ENSG00000139626;
drug: DB05802;DB05122;DB09033;
snps: rs11539433
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integrin alpha4-beta7 complex [GO:0034669]; integrin complex [GO:0008305]; membrane [GO:0016020]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cell adhesion molecule binding [GO:0050839]; integrin binding [GO:0005178]; metal ion binding [GO:0046872]; signaling receptor activity [GO:0038023]; virus receptor activity [GO:0001618]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; cell-matrix adhesion involved in ameboidal cell migration [GO:0003366]; extracellular matrix organization [GO:0030198]; heterotypic cell-cell adhesion [GO:0034113]; integrin-mediated signaling pathway [GO:0007229]; leukocyte tethering or rolling [GO:0050901]; receptor clustering [GO:0043113]; regulation of immune response [GO:0050776]; substrate adhesion-dependent cell spreading [GO:0034446]; T cell migration [GO:0072678]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P26010-1; Sequence=Displayed; Name=Short; IsoId=P26010-2; Sequence=VSP_002753; 


uniprotID: Q9HAQ2
geneSymbol: KIF9
reactome: R-HSA-6811434;R-HSA-983189;
pdb: 3NWN;
name: Kinesin-like protein KIF9
length: 790
go: ENSG00000088727;
snps: rs2270569 rs3733092 rs2276853
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; podosome [GO:0002102]; vesicle [GO:0031982]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; protein dimerization activity [GO:0046983]; extracellular matrix disassembly [GO:0022617]; microtubule-based movement [GO:0007018]; organelle disassembly [GO:1903008]; regulation of podosome assembly [GO:0071801]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9HAQ2-1; Sequence=Displayed; Name=2; IsoId=Q9HAQ2-2; Sequence=VSP_002868; 


uniprotID: Q9Y624
geneSymbol: F11R
reactome: R-HSA-202733;R-HSA-216083;R-HSA-2173791;R-HSA-420029;
pdb: 1NBQ;3EOY;3TSZ;4ODB;
length: 299
go: ENSG00000158769;
name:
Junctional adhesion molecule A (JAM-A) (Junctional adhesion molecule 1) (JAM-1) (Platelet F11 receptor) (Platelet adhesion molecule 1) (PAM-1) (CD antigen CD321)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cell-cell junction [GO:0005911]; cytoplasmic vesicle [GO:0031410]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; slit diaphragm [GO:0036057]; cadherin binding [GO:0045296]; PDZ domain binding [GO:0030165]; virus receptor activity [GO:0001618]; actomyosin structure organization [GO:0031032]; bicellular tight junction assembly [GO:0070830]; cell adhesion [GO:0007155]; establishment of endothelial intestinal barrier [GO:0090557]; extracellular matrix organization [GO:0030198]; inflammatory response [GO:0006954]; intestinal absorption [GO:0050892]; leukocyte migration [GO:0050900]; negative regulation of GTPase activity [GO:0034260]; positive regulation of blood pressure [GO:0045777]; positive regulation of GTPase activity [GO:0043547]; protein localization to plasma membrane [GO:0072659]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of cytokine production [GO:0001817]; regulation of membrane permeability [GO:0090559]; response to radiation [GO:0009314]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y624-1; Sequence=Displayed; Name=2; IsoId=Q9Y624-2; Sequence=VSP_056218; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:11171323}. Cell membrane {ECO:0000269|PubMed:11171323}; Single-pass type I membrane protein {ECO:0000269|PubMed:11171323}. Note=Localized at tight junctions of both epithelial and endothelial cells. {ECO:0000269|PubMed:11171323}.


uniprotID: Q9P055
geneSymbol: JKAMP
length: 319
go: ENSG00000050130;
name:
JNK1/MAPK8-associated membrane protein (JKAMP) (JNK1-associated membrane protein) (JAMP) (Medulloblastoma antigen MU-MB-50.4)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; ubiquitin protein ligase binding [GO:0031625]; response to unfolded protein [GO:0006986]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=5; IsoId=Q9P055-5; Sequence=Displayed; Name=2; IsoId=Q9P055-2; Sequence=VSP_059762; Name=3; IsoId=Q9P055-3; Sequence=VSP_059763; Name=4; IsoId=Q9P055-4; Sequence=VSP_059764; 


uniprotID: Q96N16
geneSymbol: JAKMIP1
length: 626
go: ENSG00000152969;
snps: rs772311401 rs199693515
name:
Janus kinase and microtubule-interacting protein 1 (GABA-B receptor-binding protein) (Multiple alpha-helices and RNA-linker protein 1) (Marlin-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; extrinsic component of membrane [GO:0019898]; microtubule [GO:0005874]; ribonucleoprotein complex [GO:1990904]; ribonucleoprotein granule [GO:0035770]; GABA receptor binding [GO:0050811]; kinase binding [GO:0019900]; kinesin binding [GO:0019894]; microtubule binding [GO:0008017]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; translation regulator activity [GO:0045182]; cognition [GO:0050890]; positive regulation of cytoplasmic translation [GO:2000767]; positive regulation of developmental process [GO:0051094]; protein transport [GO:0015031]; striatum development [GO:0021756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=Jakmip1A; IsoId=Q96N16-1; Sequence=Displayed; Name=2; Synonyms=Jakmip1B; IsoId=Q96N16-2; Sequence=VSP_031997; Name=3; Synonyms=Jakmip1C; IsoId=Q96N16-3; Sequence=VSP_031991, VSP_031993; Note=Dubious isoform produced through aberrant splice sites.; Name=4; Synonyms=Jakmip1D; IsoId=Q96N16-4; Sequence=VSP_031995, VSP_031996; Note=Dubious isoform produced through aberrant splice sites.; Name=5; Synonyms=Jakmip1E; IsoId=Q96N16-5; Sequence=VSP_031990, VSP_031992, VSP_031997; Name=6; IsoId=Q96N16-6; Sequence=VSP_031989, VSP_031994; Note=No experimental confirmation available.; Name=7; IsoId=Q96N16-7; Sequence=VSP_031990; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein. Note=Colocalizes with the microtubule network. Localizes to the cell body and neurites of hippocampal neurons where it accumulates in granules. Localizes to the tail and to a lower extent to the head of sperm cells.


uniprotID: P23458
geneSymbol: JAK1
name: Tyrosine-protein kinase JAK1 (EC 2.7.10.2) (Janus kinase 1) (JAK-1)
length: 1154
go: ENSG00000162434;
drug: DB08877;DB08895;
snps: rs34680086
reactome:
R-HSA-1059683;R-HSA-110056;R-HSA-112411;R-HSA-1169408;R-HSA-1266695;R-HSA-449836;R-HSA-5673001;R-HSA-6783783;R-HSA-6785807;R-HSA-6788467;R-HSA-877300;R-HSA-877312;R-HSA-8854691;R-HSA-8983432;R-HSA-8984722;R-HSA-8985947;R-HSA-9020558;R-HSA-9020591;R-HSA-9020956;R-HSA-9020958;R-HSA-909733;R-HSA-912526;R-HSA-912694;

pdb:
3EYG;3EYH;4E4L;4E4N;4E5W;4EHZ;4EI4;4FK6;4GS0;4I5C;4IVB;4IVC;4IVD;4K6Z;4K77;4L00;4L01;5E1E;5HX8;5IXD;5IXI;5KHW;5KHX;5L04;5WO4;6AAH;6BBU;6C7Y;6DBN;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endosome [GO:0005768]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleus [GO:0005634]; ATP binding [GO:0005524]; CCR5 chemokine receptor binding [GO:0031730]; growth hormone receptor binding [GO:0005131]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein phosphatase binding [GO:0019903]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; ubiquitin protein ligase binding [GO:0031625]; cytokine-mediated signaling pathway [GO:0019221]; interferon-gamma-mediated signaling pathway [GO:0060333]; interleukin-12-mediated signaling pathway [GO:0035722]; interleukin-15-mediated signaling pathway [GO:0035723]; interleukin-2-mediated signaling pathway [GO:0038110]; interleukin-21-mediated signaling pathway [GO:0038114]; interleukin-27-mediated signaling pathway [GO:0070106]; interleukin-35-mediated signaling pathway [GO:0070757]; interleukin-6-mediated signaling pathway [GO:0070102]; interleukin-7-mediated signaling pathway [GO:0038111]; interleukin-9-mediated signaling pathway [GO:0038113]; intracellular signal transduction [GO:0035556]; MAPK cascade [GO:0000165]; positive regulation of sprouting angiogenesis [GO:1903672]; protein phosphorylation [GO:0006468]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; response to antibiotic [GO:0046677]; type I interferon signaling pathway [GO:0060337]

location:
SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Note=Wholly intracellular, possibly membrane associated.


uniprotID: Q9Y664
geneSymbol: KPTN
name: KICSTOR complex protein kaptin (Actin-associated protein 2E4)
length: 436
go: ENSG00000118162;
sequence:

opentargets:
KICSTOR complex [GO:0140007]; lamellipodium [GO:0030027]; lysosomal membrane [GO:0005765]; postsynaptic actin cytoskeleton [GO:0098871]; stereocilium [GO:0032420]; actin filament binding [GO:0051015]; actin filament organization [GO:0007015]; cellular response to amino acid starvation [GO:0034198]; cellular response to glucose starvation [GO:0042149]; negative regulation of TORC1 signaling [GO:1904262]; protein localization to lysosome [GO:0061462]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y664-1; Sequence=Displayed; Name=2; IsoId=Q9Y664-2; Sequence=VSP_053990; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:28199306}. Cell projection, lamellipodium {ECO:0000269|PubMed:10099934, ECO:0000269|PubMed:24239382}. Cell projection, stereocilium {ECO:0000250|UniProtKB:A0A1D5PJB7}. Note=Localization to lysosomes is amino acid-independent (PubMed:28199306). Colocalizes with F-actin (PubMed:24239382). {ECO:0000269|PubMed:24239382, ECO:0000269|PubMed:28199306}.


uniprotID: Q6NUN7
geneSymbol: JHY
name: Jhy protein homolog
length: 778
go: ENSG00000109944;
snps: rs33999612
sequence:

opentargets:
axoneme assembly [GO:0035082]; brain development [GO:0007420]; cerebrospinal fluid secretion [GO:0033326]; ciliary basal body organization [GO:0032053]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NUN7-1; Sequence=Displayed; Name=2; IsoId=Q6NUN7-2; Sequence=VSP_023915, VSP_023916; 


uniprotID: Q8IZA0
geneSymbol: KIAA0319L
pdb: 2YRL;
name: Dyslexia-associated protein KIAA0319-like protein (Adeno-associated virus receptor) (AAVR)
length: 1049
go: ENSG00000142687;
snps: rs1635712 rs1361040
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZA0-1; Sequence=Displayed; Name=2; IsoId=Q8IZA0-2; Sequence=VSP_032955; Note=No experimental confirmation available.; Name=3; IsoId=Q8IZA0-3; Sequence=VSP_032953, VSP_032954; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic granule membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus membrane {ECO:0000269|PubMed:26814968}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:26814968}; Multi-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:26814968}; Multi-pass membrane protein {ECO:0000305}. Note=Traffics from the plasma membrane to the trans-Golgi network. {ECO:0000269|PubMed:26814968}.


uniprotID: Q92628
geneSymbol: KIAA0232
name: Uncharacterized protein KIAA0232
length: 1395
go: ENSG00000170871;
opentargets: ATP binding [GO:0005524]
sequence:


uniprotID: Q7Z3Z0
geneSymbol: KRT25
reactome: R-HSA-6805567;R-HSA-6809371;
length: 450
go: ENSG00000204897;
snps: rs12951399 rs879253749 rs766783183
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8VCW2}.
name:
Keratin, type I cytoskeletal 25 (Cytokeratin-25) (CK-25) (Keratin-25) (K25) (Keratin-25A) (K25A) (Type I inner root sheath-specific keratin-K25irs1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; protein heterodimerization activity [GO:0046982]; structural molecule activity [GO:0005198]; aging [GO:0007568]; cornification [GO:0070268]; cytoskeleton organization [GO:0007010]; hair cycle [GO:0042633]; hair follicle morphogenesis [GO:0031069]; intermediate filament organization [GO:0045109]; keratinization [GO:0031424]


uniprotID: Q9NXV2
geneSymbol: KCTD5
pdb: 3DRX;3DRY;3DRZ;
name: BTB/POZ domain-containing protein KCTD5
length: 234
go: ENSG00000167977;
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; cullin family protein binding [GO:0097602]; identical protein binding [GO:0042802]; protein-containing complex binding [GO:0044877]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein homooligomerization [GO:0051260]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Nucleus. Note=Predominantly cytoplasmic, translocated to the nucleus upon interaction with Rep proteins.


uniprotID: Q07666
geneSymbol: KHDRBS1
reactome: R-HSA-8849468;
pdb: 2XA6;3QHE;
length: 443
go: ENSG00000121774;
name:
KH domain-containing, RNA-binding, signal transduction-associated protein 1 (GAP-associated tyrosine phosphoprotein p62) (Src-associated in mitosis 68 kDa protein) (Sam68) (p21 Ras GTPase-activating protein-associated p62) (p68)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Grb2-Sos complex [GO:0070618]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; poly(A) binding [GO:0008143]; poly(U) RNA binding [GO:0008266]; protein domain specific binding [GO:0019904]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; cell cycle arrest [GO:0007050]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; G2/M transition of mitotic cell cycle [GO:0000086]; mRNA processing [GO:0006397]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of RNA export from nucleus [GO:0046833]; positive regulation of translational initiation [GO:0045948]; protein complex oligomerization [GO:0051259]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of RNA export from nucleus [GO:0046831]; signal transduction [GO:0007165]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:1374686}; IsoId=Q07666-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q07666-2; Sequence=VSP_051719; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:9013542}; Synonyms=DeltaKH {ECO:0000269|PubMed:9013542}; IsoId=Q07666-3; Sequence=VSP_051720; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:1374686, ECO:0000269|PubMed:29496907}. Cytoplasm {ECO:0000269|PubMed:29496907}. Membrane {ECO:0000269|PubMed:1374686}. Note=Predominantly located in the nucleus but also located partially in the cytoplasm. {ECO:0000269|PubMed:29496907}.


uniprotID: Q9BVG8
geneSymbol: KIFC3
reactome: R-HSA-390471;
pdb: 5WDE;
name: Kinesin-like protein KIFC3
length: 833
go: ENSG00000140859;
snps: rs17854089
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasmic vesicle membrane [GO:0030659]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; zonula adherens [GO:0005915]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; epithelial cell-cell adhesion [GO:0090136]; Golgi organization [GO:0007030]; microtubule-based movement [GO:0007018]; visual perception [GO:0007601]; zonula adherens maintenance [GO:0045218]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BVG8-3; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9BVG8-2; Sequence=VSP_021018; Name=3; IsoId=Q9BVG8-4; Sequence=VSP_022361, VSP_022362; 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=Q9BVG8-5; Sequence=VSP_043724, VSP_021018; Note=No experimental confirmation available.; Name=5; IsoId=Q9BVG8-6; Sequence=VSP_057224, VSP_021018; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000269|PubMed:19041755}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19041755}. Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Apical cell membrane. On membrane organelles immediately beneath the apical plasma membrane of renal tubular epithelial cells. Localized in the distal tubules and loops of Henle in the kidney, but not in the proximal tubules or the glomeruli, with stronger staining in the apical area of these epithelial cells (By similarity). Localizes along zonula adherens only at mature cell-cell contacts. {ECO:0000250}.


uniprotID: Q8N5M9
geneSymbol: JAGN1
name: Protein jagunal homolog 1
length: 183
go: ENSG00000171135;
snps: rs786205704 rs777966677 rs587777729 rs587777728 rs587777730
sequence:
MASRAGPRAAGTDGSDFQHRERVAMHYQMSVTLKYEIKKLIYVHLVIWLLLVAKMSVGHLRLLSHDQVAMPYQWEYPYLLSILPSLLGLLSFPRNNISYLVLSMISMGLFSIAPLIYGSMEMFPAAQQLYRHGKAYRFLFGFSAVSIMYLVLVLAVQVHAWQLYYSKKLLDSWFTSTQEKKHK

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; cellular response to tunicamycin [GO:1904577]; defense response to fungus [GO:0050832]; endoplasmic reticulum organization [GO:0007029]; exocytosis [GO:0006887]; granulocyte colony-stimulating factor signaling pathway [GO:0038158]; negative regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061179]; neutrophil differentiation [GO:0030223]; neutrophil mediated immunity [GO:0002446]; neutrophil migration [GO:1990266]; protein transport [GO:0015031]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25129144}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9BX67
geneSymbol: JAM3
reactome: R-HSA-202733;R-HSA-216083;
length: 310
go: ENSG00000166086;
snps: rs397515439 rs397515438
name:
Junctional adhesion molecule C (JAM-C) (JAM-2) (Junctional adhesion molecule 3) (JAM-3) [Cleaved into: Soluble form of JAM-C (sJAM-C)]

sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell-cell contact zone [GO:0044291]; desmosome [GO:0030057]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; paranodal junction [GO:0033010]; plasma membrane [GO:0005886]; Schmidt-Lanterman incisure [GO:0043220]; integrin binding [GO:0005178]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; adaptive immune response [GO:0002250]; angiogenesis [GO:0001525]; axon regeneration [GO:0031103]; cell-matrix adhesion [GO:0007160]; establishment of cell polarity [GO:0030010]; extracellular matrix organization [GO:0030198]; leukocyte migration [GO:0050900]; leukocyte migration involved in inflammatory response [GO:0002523]; myelination [GO:0042552]; myeloid progenitor cell differentiation [GO:0002318]; neutrophil homeostasis [GO:0001780]; regulation of actin cytoskeleton organization by cell-cell adhesion [GO:0090138]; regulation of neutrophil chemotaxis [GO:0090022]; spermatid development [GO:0007286]; transmission of nerve impulse [GO:0019226]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BX67-1; Sequence=Displayed; Name=2; IsoId=Q9BX67-2; Sequence=VSP_042561; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11590146, ECO:0000269|PubMed:12208882, ECO:0000269|PubMed:15994945, ECO:0000269|PubMed:23255084, ECO:0000269|PubMed:28196865}; Single-pass type I membrane protein {ECO:0000305}. Cell junction {ECO:0000269|PubMed:15994945}. Cell junction, desmosome {ECO:0000269|PubMed:15194813}. Cell junction, tight junction {ECO:0000269|PubMed:28196865}. Note=Detected in the acrosome region in developing spermatids (By similarity). In epithelial cells, it is expressed at desmosomes but not at tight junctions (PubMed:15194813). Localizes at the cell surface of endothelial cells; treatment of endothelial cells with vascular endothelial growth factor stimulates recruitment of JAM3 to cell-cell contacts (PubMed:15994945). {ECO:0000250|UniProtKB:Q9D8B7}.; SUBCELLULAR LOCATION: Soluble form of JAM-C: Secreted {ECO:0000269|PubMed:20592283}.


uniprotID: Q9Y4A0
geneSymbol: JRKL
name: Jerky protein homolog-like (Human homolog of mouse jerky gene protein) (HHMJG)
length: 524
go: ENSG00000183340;
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]; central nervous system development [GO:0007417]
sequence:


uniprotID: O75564
geneSymbol: JRK
name: Jerky protein homolog
length: 556
go: ENSG00000234616;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00583}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; DNA binding [GO:0003677]; mRNA binding [GO:0003729]; positive regulation of canonical Wnt signaling pathway [GO:0090263]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75564-1; Sequence=Displayed; Name=2; IsoId=O75564-2; Sequence=VSP_059375; 


uniprotID: P17275
geneSymbol: JUNB
reactome: R-HSA-2173796;R-HSA-6785807;
name: Transcription factor jun-B
length: 347
go: ENSG00000171223;
snps: rs17880705
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
chromatin [GO:0000785]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; transcription factor AP-1 complex [GO:0035976]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cellular response to calcium ion [GO:0071277]; cellular response to hormone stimulus [GO:0032870]; cytokine-mediated signaling pathway [GO:0019221]; decidualization [GO:0046697]; embryonic process involved in female pregnancy [GO:0060136]; labyrinthine layer blood vessel development [GO:0060716]; negative regulation of transcription by RNA polymerase II [GO:0000122]; osteoblast differentiation [GO:0001649]; osteoblast proliferation [GO:0033687]; osteoclast differentiation [GO:0030316]; positive regulation of cell differentiation [GO:0045597]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell cycle [GO:0051726]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cAMP [GO:0051591]; response to cytokine [GO:0034097]; response to drug [GO:0042493]; response to lipopolysaccharide [GO:0032496]; response to mechanical stimulus [GO:0009612]; response to organic substance [GO:0010033]; response to radiation [GO:0009314]; trophectodermal cell differentiation [GO:0001829]; vasculogenesis [GO:0001570]


uniprotID: O60271
geneSymbol: SPAG9
reactome: R-HSA-375170;
pdb: 2W83;
length: 1321
go: ENSG00000008294;
snps: rs9896965
name:
C-Jun-amino-terminal kinase-interacting protein 4 (JIP-4) (JNK-interacting protein 4) (Cancer/testis antigen 89) (CT89) (Human lung cancer oncogene 6 protein) (HLC-6) (JNK-associated leucine-zipper protein) (JLP) (Mitogen-activated protein kinase 8-interacting protein 4) (Proliferation-inducing protein 6) (Protein highly expressed in testis) (PHET) (Sperm surface protein) (Sperm-associated antigen 9) (Sperm-specific protein) (Sunday driver 1)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule organizing center [GO:0005815]; perinuclear region of cytoplasm [GO:0048471]; JUN kinase binding [GO:0008432]; kinesin binding [GO:0019894]; MAP-kinase scaffold activity [GO:0005078]; receptor signaling complex scaffold activity [GO:0030159]; activation of JUN kinase activity [GO:0007257]; positive regulation of cell migration [GO:0030335]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of neuron differentiation [GO:0045666]; protein homooligomerization [GO:0051260]; retrograde transport, endosome to Golgi [GO:0042147]; striated muscle cell differentiation [GO:0051146]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O60271-1; Sequence=Displayed; Name=2; IsoId=O60271-2; Sequence=VSP_018214, VSP_018220; Name=3; IsoId=O60271-3; Sequence=VSP_018221, VSP_018222; Note=Due to intron retention.; Name=4; IsoId=O60271-4; Sequence=VSP_018214; Name=5; IsoId=O60271-5; Sequence=VSP_018214, VSP_018221, VSP_018222; Name=6; IsoId=O60271-9; Sequence=VSP_042253, VSP_018214, VSP_042254; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Note=Perinuclear distribution in response to stress signals such as UV radiation.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Associated with the plasma membrane of the acrosomal compartment and also localizes in the acrosome matrix.


uniprotID: P08727
geneSymbol: KRT19
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 19 (Cytokeratin-19) (CK-19) (Keratin-19) (K19)
length: 400
go: ENSG00000171345;
snps: rs4602
sequence:

opentargets:
apicolateral plasma membrane [GO:0016327]; cell periphery [GO:0071944]; costamere [GO:0043034]; cytosol [GO:0005829]; dystrophin-associated glycoprotein complex [GO:0016010]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; terminal web [GO:1990357]; Z disc [GO:0030018]; protein-containing complex binding [GO:0044877]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of muscle [GO:0008307]; cell differentiation involved in embryonic placenta development [GO:0060706]; cornification [GO:0070268]; keratinization [GO:0031424]; Notch signaling pathway [GO:0007219]; response to estrogen [GO:0043627]; sarcomere organization [GO:0045214]; viral process [GO:0016032]


uniprotID: P13645
geneSymbol: KRT10
reactome: R-HSA-6805567;R-HSA-6809371;
pdb: 3ASW;4F1Z;4ZRY;
name: Keratin, type I cytoskeletal 10 (Cytokeratin-10) (CK-10) (Keratin-10) (K10)
length: 584
go: ENSG00000186395;
sequence:

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; intermediate filament [GO:0005882]; membrane [GO:0016020]; nucleus [GO:0005634]; protein heterodimerization activity [GO:0046982]; structural constituent of epidermis [GO:0030280]; cornification [GO:0070268]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]; positive regulation of epidermis development [GO:0045684]; protein heterotetramerization [GO:0051290]

snps:
rs4261597 rs77919366 rs58901407 rs58901407 rs57784225 rs58852768 rs58075662 rs58075662 rs58852768 rs58414354 rs58735429 rs60118264 rs59075499 rs61434181 rs58026994 rs62651994 rs267607383 rs17855579 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:12427098}. Note=Localized on the surface of desquamated nasal epithelial cells. {ECO:0000269|PubMed:12427098}.


uniprotID: Q14CN4
geneSymbol: KRT72
reactome: R-HSA-6805567;R-HSA-6809371;
length: 511
go: ENSG00000170486;
snps: rs11170187 rs12833456 rs34769047 rs7310138 rs11170183
name:
Keratin, type II cytoskeletal 72 (Cytokeratin-72) (CK-72) (Keratin-72) (K72) (Type II inner root sheath-specific keratin-K6irs2) (Type-II keratin Kb35)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14CN4-1; Sequence=Displayed; Name=2; IsoId=Q14CN4-2; Sequence=VSP_030416; Name=3; IsoId=Q14CN4-3; Sequence=VSP_045280; Note=No experimental confirmation available.; 


uniprotID: Q6ZVL6
geneSymbol: KIAA1549L
name: UPF0606 protein KIAA1549L
length: 1849
go: ENSG00000110427;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZVL6-1; Sequence=Displayed; Name=2; IsoId=Q6ZVL6-2; Sequence=VSP_034445, VSP_034446, VSP_034447; Note=No experimental confirmation available.; 


uniprotID: P12532
geneSymbol: CKMT1A; CKMT1B
reactome: R-HSA-71288;
pdb: 1QK1;
length: 417
go: ENSG00000223572;ENSG00000237289;
drug: DB00148;
name:
Creatine kinase U-type, mitochondrial (EC 2.7.3.2) (Acidic-type mitochondrial creatine kinase) (Mia-CK) (Ubiquitous mitochondrial creatine kinase) (U-MtCK)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; creatine kinase activity [GO:0004111]; creatine metabolic process [GO:0006600]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P12532-1; Sequence=Displayed; Name=2; IsoId=P12532-2; Sequence=VSP_038045; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.


uniprotID: Q9NR82
geneSymbol: KCNQ5
reactome: R-HSA-1296072;
pdb: 6B8Q;
length: 932
go: ENSG00000185760;
drug: DB04953;DB06089;
snps: rs1135401955 rs1135401956 rs1135401958 rs1135401957
name:
Potassium voltage-gated channel subfamily KQT member 5 (KQT-like 5) (Potassium channel subunit alpha KvLQT5) (Voltage-gated potassium channel subunit Kv7.5)

sequence:

opentargets:
clathrin coat [GO:0030118]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calmodulin binding [GO:0005516]; delayed rectifier potassium channel activity [GO:0005251]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q9NR82-1; Sequence=Displayed; Name=2; IsoId=Q9NR82-2; Sequence=VSP_001014; Name=3; IsoId=Q9NR82-3; Sequence=VSP_001015; Name=4; IsoId=Q9NR82-4; Sequence=VSP_022318, VSP_022319; Note=No experimental confirmation available.; Name=5; IsoId=Q9NR82-5; Sequence=VSP_045487; Note=No experimental confirmation available.; Name=6; IsoId=Q9NR82-6; Sequence=VSP_056731; Note=No experimental confirmation available.; Name=7; IsoId=Q9NR82-7; Sequence=VSP_056730; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10787416, ECO:0000269|PubMed:11159685}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q587J8
geneSymbol: KHDC3L
name: KHDC3-like protein (ES cell-associated transcript 1 protein)
length: 217
go: ENSG00000203908;
opentargets: protein-containing complex [GO:0032991]; RNA binding [GO:0003723]
snps: rs564533 rs561930
sequence:


uniprotID: Q9H0H3
geneSymbol: KLHL25
reactome: R-HSA-8951664;R-HSA-983168;
name: Kelch-like protein 25 (Ectoderm-neural cortex protein 2) (ENC-2)
length: 589
go: ENSG00000183655;
snps: rs35582838 rs36031133
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of translational initiation [GO:0006446]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: P35367
geneSymbol: HRH1
reactome: R-HSA-390650;R-HSA-416476;
pdb: 3RZE;
name: Histamine H1 receptor (H1R) (HH1R)
length: 487
go: ENSG00000196639;
snps: rs2067466 rs7651620 rs1370695377
sequence:

opentargets:
cytosol [GO:0005829]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; histamine receptor activity [GO:0004969]; neurotransmitter receptor activity [GO:0030594]; cellular response to histamine [GO:0071420]; chemical synaptic transmission [GO:0007268]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; inflammatory response [GO:0006954]; inositol phosphate-mediated signaling [GO:0048016]; memory [GO:0007613]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of inositol trisphosphate biosynthetic process [GO:0032962]; positive regulation of vasoconstriction [GO:0045907]; regulation of synaptic plasticity [GO:0048167]; regulation of vascular permeability [GO:0043114]; visual learning [GO:0008542]

drug:
DB01615;DB09488;DB06766;DB01246;DB00321;DB00543;DB08799;DB01238;DB06216;DB00637;DB00719;DB00972;DB00245;DB00767;DB04890;DB06698;DB11591;DB01237;DB00835;DB00354;DB09016;DB00748;DB06016;DB00341;DB08936;DB08800;DB01114;DB00477;DB01239;DB00568;DB00215;DB00283;DB04837;DB00363;DB01176;DB00434;DB01151;DB00967;DB00405;DB09555;DB00985;DB08801;DB01075;DB01146;DB01142;DB00366;DB01084;DB05492;DB00751;DB01175;DB06678;DB00950;DB04841;DB05381;DB05079;DB00557;DB04946;DB00458;DB08802;DB00920;DB01106;DB06282;DB00455;DB00408;DB00934;DB00737;DB06691;DB01071;DB00902;DB01403;DB06148;DB00370;DB00540;DB05080;DB00334;DB00768;DB01173;DB01267;DB01619;DB01620;DB00420;DB01069;DB00777;DB01224;DB00734;DB05345;DB00342;DB04905;DB13025;DB00797;DB00656;DB00726;DB00792;DB00427;DB00246;DB01624;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21697825}; Multi-pass membrane protein {ECO:0000269|PubMed:21697825}.


uniprotID: Q9H3N8
geneSymbol: HRH4
reactome: R-HSA-390650;R-HSA-418594;
length: 390
go: ENSG00000134489;
drug: DB00321;DB00543;DB00477;DB00363;DB01142;DB05381;DB00408;DB06148;DB00334;DB05032;
snps: rs11665084 rs11662595
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Histamine H4 receptor (H4R) (HH4R) (AXOR35) (G-protein coupled receptor 105) (GPRv53) (Pfi-013) (SP9144)

sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled acetylcholine receptor activity [GO:0016907]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; histamine receptor activity [GO:0004969]; neurotransmitter receptor activity [GO:0030594]; adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway [GO:0007197]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; inflammatory response [GO:0006954]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of MAPK cascade [GO:0043408]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3N8-1; Sequence=Displayed; Name=2; IsoId=Q9H3N8-2; Sequence=VSP_042737; Note=No experimental confirmation available.; 


uniprotID: Q86YV9
geneSymbol: HPS6
name: Hermansky-Pudlak syndrome 6 protein (Ruby-eye protein homolog) (Ru)
length: 775
go: ENSG00000166189;
sequence:

opentargets:
BLOC-2 complex [GO:0031084]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; GTP-dependent protein binding [GO:0030742]; Rab GTPase binding [GO:0017137]; blood coagulation [GO:0007596]; lysosome localization [GO:0032418]; melanocyte differentiation [GO:0030318]; organelle organization [GO:0006996]; protein localization to membrane [GO:0072657]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000269|PubMed:15030569}. Cytoplasm, cytosol {ECO:0000269|PubMed:15030569}. Early endosome membrane {ECO:0000269|PubMed:16837549}. Lysosome membrane {ECO:0000269|PubMed:25189619}.


uniprotID: P17066
geneSymbol: HSPA6
reactome: R-HSA-3371453;R-HSA-6798695;
pdb: 3FE1;
name: Heat shock 70 kDa protein 6 (Heat shock 70 kDa protein B')
length: 643
go: ENSG00000173110;
sequence:

opentargets:
blood microparticle [GO:0072562]; centriole [GO:0005814]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; secretory granule lumen [GO:0034774]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; enzyme binding [GO:0019899]; heat shock protein binding [GO:0031072]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; unfolded protein binding [GO:0051082]; cellular response to heat [GO:0034605]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; neutrophil degranulation [GO:0043312]; protein refolding [GO:0042026]; response to unfolded protein [GO:0006986]

snps:
rs41297698 rs400835 rs10919224 rs10919225 rs10919226 rs41297702 rs41297704 rs41297708 rs41297710 rs41297714 rs1079109 rs41299256 rs41297718 rs417707 rs388218 rs41299256 rs570189 rs570167 rs753856 rs452004 rs368844 rs41299260 


uniprotID: P05787
geneSymbol: KRT8
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type II cytoskeletal 8 (Cytokeratin-8) (CK-8) (Keratin-8) (K8) (Type-II keratin Kb8)
length: 483
go: ENSG00000170421;
drug: DB00031;
snps: rs61710484 rs11554495 rs59536457 rs2277330 rs1065648
sequence:

opentargets:
apicolateral plasma membrane [GO:0016327]; cell-cell junction [GO:0005911]; costamere [GO:0043034]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dystrophin-associated glycoprotein complex [GO:0016010]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; intermediate filament cytoskeleton [GO:0045111]; keratin filament [GO:0045095]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; sarcolemma [GO:0042383]; Z disc [GO:0030018]; protein-containing complex binding [GO:0044877]; scaffold protein binding [GO:0097110]; structural molecule activity [GO:0005198]; cell differentiation involved in embryonic placenta development [GO:0060706]; cornification [GO:0070268]; extrinsic apoptotic signaling pathway [GO:0097191]; hepatocyte apoptotic process [GO:0097284]; keratinization [GO:0031424]; response to hydrostatic pressure [GO:0051599]; response to other organism [GO:0051707]; sarcomere organization [GO:0045214]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P05787-1; Sequence=Displayed; Name=2; IsoId=P05787-2; Sequence=VSP_046000; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10973561, ECO:0000269|PubMed:19188445}. Nucleus, nucleoplasm {ECO:0000250}. Nucleus matrix {ECO:0000250}.


uniprotID: Q9C075
geneSymbol: KRT23
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 23 (Cytokeratin-23) (CK-23) (Keratin-23) (K23)
length: 422
go: ENSG00000108244;
snps: rs9257 rs17856805
sequence:

opentargets:
cytosol [GO:0005829]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C075-1; Sequence=Displayed; Name=2; IsoId=Q9C075-2; Sequence=VSP_055662; Note=No experimental confirmation available.; 


uniprotID: Q9UIJ7
geneSymbol: AK3
reactome: R-HSA-983231;
pdb: 1ZD8;
length: 227
go: ENSG00000147853;
name:
GTP:AMP phosphotransferase AK3, mitochondrial (EC 2.7.4.10) (Adenylate kinase 3) (AK 3) (Adenylate kinase 3 alpha-like 1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; nucleoside triphosphate adenylate kinase activity [GO:0046899]; ADP biosynthetic process [GO:0006172]; AMP metabolic process [GO:0046033]; blood coagulation [GO:0007596]; GTP metabolic process [GO:0046039]; ITP metabolic process [GO:0046041]; nucleoside monophosphate phosphorylation [GO:0046940]; UTP metabolic process [GO:0046051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UIJ7-1; Sequence=Displayed; Name=2; IsoId=Q9UIJ7-2; Sequence=VSP_043090; Name=3; IsoId=Q9UIJ7-3; Sequence=VSP_044876; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000255|HAMAP-Rule:MF_03169, ECO:0000269|PubMed:11485571}.


uniprotID: Q6A162
geneSymbol: KRT40
reactome: R-HSA-6805567;R-HSA-6809371;
length: 431
go: ENSG00000204889;
snps: rs1510069 rs17843015 rs1510068 rs9908304 rs2010027 rs721957 rs721958 rs9908389 rs16968862
name:
Keratin, type I cytoskeletal 40 (Cytokeratin-40) (CK-40) (Keratin-40) (K40) (Type I hair keratin Ka36)

sequence:

opentargets:
cytosol [GO:0005829]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: Q6P2M8
geneSymbol: PNCK
length: 343
go: ENSG00000130822;
snps: rs56060609
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
Calcium/calmodulin-dependent protein kinase type 1B (EC 2.7.11.17) (CaM kinase I beta) (CaM kinase IB) (CaM-KI beta) (CaMKI-beta) (Pregnancy up-regulated non-ubiquitously-expressed CaM kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6P2M8-1; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog.; Name=2; IsoId=Q6P2M8-2; Sequence=VSP_012635; Name=3; IsoId=Q6P2M8-3; Sequence=VSP_012634; Name=4; IsoId=Q6P2M8-5; Sequence=VSP_039091; Name=5; IsoId=Q6P2M8-6; Sequence=VSP_043373; Note=No experimental confirmation available.; 


uniprotID: Q9ULL0
geneSymbol: KIAA1210
name: Acrosomal protein KIAA1210
length: 1709
go: ENSG00000250423;
opentargets: acrosomal vesicle [GO:0001669]
snps: rs5910522 rs35613130 rs7063611 rs7050904 rs3761592 rs17335909 rs2305570
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:E9Q0C6}. Note=Localizes to the sex body in spermatocyte, acrosome, and near the ectoplasmic specialization. {ECO:0000250|UniProtKB:E9Q0C6}.


uniprotID: Q96MA6
geneSymbol: AK8
reactome: R-HSA-499943;
name: Adenylate kinase 8 (AK 8) (EC 2.7.4.3) (EC 2.7.4.6) (ATP-AMP transphosphorylase 8)
length: 479
go: ENSG00000165695;
drug: DB01717;
snps: rs2231400 rs17407084
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:21080915}.
sequence:

opentargets:
axoneme [GO:0005930]; cytosol [GO:0005829]; sperm flagellum [GO:0036126]; adenylate kinase activity [GO:0004017]; ATP binding [GO:0005524]; cytidylate kinase activity [GO:0004127]; nucleoside diphosphate kinase activity [GO:0004550]; nucleoside kinase activity [GO:0019206]; nucleobase-containing small molecule interconversion [GO:0015949]; nucleoside diphosphate phosphorylation [GO:0006165]; nucleoside triphosphate biosynthetic process [GO:0009142]; ventricular system development [GO:0021591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MA6-1; Sequence=Displayed; Name=2; IsoId=Q96MA6-2; Sequence=VSP_023419; Note=No experimental confirmation available.; 


uniprotID: Q5TCS8
geneSymbol: AK9
reactome: R-HSA-499943;
length: 1911
go: ENSG00000155085;
name:
Adenylate kinase 9 (AK 9) (EC 2.7.4.4) (EC 2.7.4.6) (Adenylate kinase domain-containing protein 1) (Adenylate kinase domain-containing protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; nucleoside diphosphate kinase activity [GO:0004550]; nucleoside kinase activity [GO:0019206]; nucleoside monophosphate kinase activity [GO:0050145]; AMP phosphorylation [GO:0006756]; ATP generation from ADP [GO:0006757]; CDP phosphorylation [GO:0061508]; CMP phosphorylation [GO:0061566]; dADP phosphorylation [GO:0006174]; dAMP phosphorylation [GO:0061565]; dCDP phosphorylation [GO:0061570]; dCMP phosphorylation [GO:0061567]; dGDP phosphorylation [GO:0006186]; GDP phosphorylation [GO:0061568]; nucleobase-containing small molecule interconversion [GO:0015949]; TDP phosphorylation [GO:0061571]; UDP phosphorylation [GO:0061569]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=4; IsoId=Q5TCS8-4; Sequence=Displayed; Name=1; IsoId=Q5TCS8-1; Sequence=VSP_039639, VSP_039640; Note=No experimental confirmation available.; Name=2; IsoId=Q5TCS8-2; Sequence=VSP_028008, VSP_028009; Name=3; IsoId=Q5TCS8-3; Sequence=VSP_028010, VSP_028011; Name=5; IsoId=Q5TCS8-5, Q6ZNF1-1; Sequence=VSP_039638, VSP_039642, VSP_039643; Name=6; IsoId=Q5TCS8-6; Sequence=VSP_039641, VSP_039644; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23416111}. Nucleus {ECO:0000269|PubMed:23416111}.


uniprotID: O60303
geneSymbol: KIAA0556
name: Protein KIAA0556
length: 1618
go: ENSG00000047578;
snps: rs12930355 rs11643103 rs16976970 rs55953014 rs4787984 rs11644502 rs2287790
sequence:

opentargets:
cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular space [GO:0005615]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:26714646}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26714646}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:26714646}. Note=When overexpressed, localizes to the cytoplasm where it associates with acetylated alpha-tubulin. {ECO:0000269|PubMed:26714646}.


uniprotID: Q7Z3Y7
geneSymbol: KRT28
reactome: R-HSA-6805567;R-HSA-6809371;
length: 464
go: ENSG00000173908;
snps: rs7209228 rs4624233 rs17558995
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A6BLY7}.
name:
Keratin, type I cytoskeletal 28 (Cytokeratin-28) (CK-28) (Keratin-25D) (K25D) (Keratin-28) (K28) (Type I inner root sheath-specific keratin-K25irs4)

sequence:


uniprotID: Q9HCM3
geneSymbol: KIAA1549
reactome: R-HSA-6802952;
name: UPF0606 protein KIAA1549
length: 1950
go: ENSG00000122778;
snps: rs2718131 rs2774960 rs2354336
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Name=1; Synonyms=v2 long-form; IsoId=Q9HCM3-1; Sequence=Displayed; Name=2; Synonyms=v1 long-form; IsoId=Q9HCM3-2; Sequence=VSP_034448; Name=3; Synonyms=v1 short-form; IsoId=Q9HCM3-3; Sequence=VSP_040885, VSP_040886, VSP_034448; Note=Produced by alternative promoter usage.; Name=4; Synonyms=v2 short-form; IsoId=Q9HCM3-4; Sequence=VSP_040885, VSP_040886; Note=Produced by alternative promoter usage.; 


uniprotID: Q5XKE5
geneSymbol: KRT79
reactome: R-HSA-6805567;R-HSA-6809371;
length: 535
go: ENSG00000185640;
snps: rs2638497 rs17855862 rs17688672 rs17688627
name:
Keratin, type II cytoskeletal 79 (Cytokeratin-79) (CK-79) (Keratin-6-like) (Keratin-6L) (Keratin-79) (K79) (Type-II keratin Kb38)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; keratin filament [GO:0045095]; enzyme binding [GO:0019899]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: P54819
geneSymbol: AK2
reactome: R-HSA-499943;
pdb: 2C9Y;
length: 239
go: ENSG00000004455;
drug: DB00718;DB01717;DB00300;
snps: rs267606648 rs267606643 rs12116440
location: SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000255|HAMAP-Rule:MF_03168}.
name:
Adenylate kinase 2, mitochondrial (AK 2) (EC 2.7.4.3) (ATP-AMP transphosphorylase 2) (ATP:AMP phosphotransferase) (Adenylate monophosphate kinase) [Cleaved into: Adenylate kinase 2, mitochondrial, N-terminally processed]

sequence:

opentargets:
extracellular exosome [GO:0070062]; mitochondrial intermembrane space [GO:0005758]; sperm mitochondrial sheath [GO:0097226]; adenylate kinase activity [GO:0004017]; ATP binding [GO:0005524]; ADP biosynthetic process [GO:0006172]; AMP metabolic process [GO:0046033]; ATP metabolic process [GO:0046034]; nucleobase-containing small molecule interconversion [GO:0015949]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=AK2A, AK2isoA; IsoId=P54819-1; Sequence=Displayed; Name=2; Synonyms=AK2B, AK2isoB; IsoId=P54819-2; Sequence=VSP_002790; Name=3; Synonyms=AK2C; IsoId=P54819-3; Sequence=VSP_002791; Name=4; Synonyms=AK2D; IsoId=P54819-4; Sequence=VSP_002792, VSP_002793, VSP_002794; Name=5; IsoId=P54819-5; Sequence=VSP_036503, VSP_002790; Note=No experimental confirmation available.; Name=6; IsoId=P54819-6; Sequence=VSP_002792; Note=No experimental confirmation available.; 


uniprotID: Q6NSI8
geneSymbol: KIAA1841
name: Uncharacterized protein KIAA1841
length: 718
go: ENSG00000162929;
snps: rs13424173
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6NSI8-1; Sequence=Displayed; Name=2; IsoId=Q6NSI8-2; Sequence=VSP_032302; Note=No experimental confirmation available.; Name=3; IsoId=Q6NSI8-3; Sequence=VSP_032299; Name=4; IsoId=Q6NSI8-4; Sequence=VSP_032300, VSP_032301; Note=No experimental confirmation available.; 


uniprotID: Q96PY0
geneSymbol: PSMG3-AS1
name: Putative uncharacterized protein PSMG3-AS1 (PSMG3 antisense RNA 1)
length: 264
snps: rs7800178
sequence:


uniprotID: Q8N8K9
geneSymbol: KIAA1958
name: Uncharacterized protein KIAA1958
length: 716
go: ENSG00000165185;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N8K9-1; Sequence=Displayed; Name=2; IsoId=Q8N8K9-2; Sequence=VSP_015146; Note=Gene prediction confirmed by EST data.; Name=3; IsoId=Q8N8K9-3; Sequence=VSP_054654; Note=No experimental confirmation available.; 


uniprotID: Q9Y3D8
geneSymbol: AK6
reactome: R-HSA-499943;
pdb: 1RKB;3IIJ;3IIK;3IIL;3IIM;5JZV;
length: 172
go: ENSG00000085231;
name:
Adenylate kinase isoenzyme 6 (AK6) (EC 2.7.4.3) (Adrenal gland protein AD-004) (Coilin-interacting nuclear ATPase protein) (hCINAP) (Dual activity adenylate kinase/ATPase) (AK/ATPase)

sequence:
MLLPNILLTGTPGVGKTTLGKELASKSGLKYINVGDLAREEQLYDGYDEEYDCPILDEDRVVDELDNQMREGGVIVDYHGCDFFPERWFHIVFVLRTDTNVLYERLETRGYNEKKLTDNIQCEIFQVLYEEATASYKEEIVHQLPSNKPEELENNVDQILKWIEQWIKDHNS

opentargets:
Cajal body [GO:0015030]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; adenylate kinase activity [GO:0004017]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; nucleoside monophosphate kinase activity [GO:0050145]; nucleobase-containing small molecule interconversion [GO:0015949]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=AK6; IsoId=Q9Y3D8-1; Sequence=Displayed; Name=2; IsoId=Q9Y3D8-2; Sequence=VSP_039714; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Nucleus, Cajal body. Note=Displays widespread diffuse nucleoplasmic distribution but not detected in nucleoli. Detected in Cajal bodies but not in all cells.


uniprotID: Q16322
geneSymbol: KCNA10
reactome: R-HSA-1296072;
length: 511
go: ENSG00000143105;
drug: DB06637;
snps: rs755748044 rs34970857 rs3748729
name:
Potassium voltage-gated channel subfamily A member 10 (Voltage-gated potassium channel subunit Kv1.8)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; intracellular cyclic nucleotide activated cation channel activity [GO:0005221]; outward rectifier potassium channel activity [GO:0015271]; voltage-gated potassium channel activity [GO:0005249]; potassium ion export [GO:0071435]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10836990}; Multi-pass membrane protein {ECO:0000269|PubMed:10836990}.


uniprotID: Q6ZMT4
geneSymbol: KDM7A
reactome: R-HSA-3214842;R-HSA-6802952;
pdb: 3KV5;3KV6;3KV9;3KVA;3KVB;3U78;
length: 941
go: ENSG00000006459;
snps: rs6950119
location: SUBCELLULAR LOCATION: Nucleus.
name:
Lysine-specific demethylase 7A (EC 1.14.11.-) (JmjC domain-containing histone demethylation protein 1D) (Lysine-specific demethylase 7)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K27 specific) [GO:0071558]; histone demethylase activity (H3-K36 specific) [GO:0051864]; histone demethylase activity (H3-K9 specific) [GO:0032454]; histone demethylase activity (H4-K20 specific) [GO:0035575]; iron ion binding [GO:0005506]; methylated histone binding [GO:0035064]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; zinc ion binding [GO:0008270]; histone H3-K27 demethylation [GO:0071557]; histone H3-K36 demethylation [GO:0070544]; histone H3-K9 demethylation [GO:0033169]; histone H4-K20 demethylation [GO:0035574]; midbrain development [GO:0030901]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZMT4-1; Sequence=Displayed; Name=2; IsoId=Q6ZMT4-2; Sequence=VSP_017458, VSP_017459; 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.; 


uniprotID: Q7LBC6
geneSymbol: KDM3B
reactome: R-HSA-3214842;
pdb: 4C8D;
length: 1761
go: ENSG00000120733;
snps: rs6865472 rs7706614
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Lysine-specific demethylase 3B (EC 1.14.11.-) (JmjC domain-containing histone demethylation protein 2B) (Jumonji domain-containing protein 1B) (Nuclear protein 5qNCA)

sequence:

opentargets:
chromatin [GO:0000785]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; antioxidant activity [GO:0016209]; chromatin DNA binding [GO:0031490]; dioxygenase activity [GO:0051213]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K9 specific) [GO:0032454]; metal ion binding [GO:0046872]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; histone H3-K9 demethylation [GO:0033169]; response to cisplatin [GO:0072718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7LBC6-1; Sequence=Displayed; Name=2; IsoId=Q7LBC6-2; Sequence=VSP_018299, VSP_018300; Name=3; IsoId=Q7LBC6-3; Sequence=VSP_018298; Note=No experimental confirmation available.; 


uniprotID: O95600
geneSymbol: KLF8
name: Krueppel-like factor 8 (Basic krueppel-like factor 3) (Zinc finger protein 741)
length: 359
go: ENSG00000102349;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16617055}.
sequence:

opentargets:
aggresome [GO:0016235]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O95600-1; Sequence=Displayed; Name=2; IsoId=O95600-3; Sequence=VSP_045460; Name=3; IsoId=O95600-4; Sequence=VSP_047480, VSP_045460; Name=4; IsoId=O95600-5; Sequence=VSP_047481; 


uniprotID: Q8NEP7
geneSymbol: KLHDC9
name: Kelch domain-containing protein 9 (Kelch/ankyrin repeat-containing cyclin A1-interacting protein)
length: 349
go: ENSG00000162755;
opentargets: cyclin binding [GO:0030332]
snps: rs11576830 rs1128750 rs1128750
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NEP7-1; Sequence=Displayed; Name=2; IsoId=Q8NEP7-2; Sequence=VSP_027808, VSP_027810; Name=3; IsoId=Q8NEP7-3; Sequence=VSP_027807, VSP_027809; 


uniprotID: D3W0D1
geneSymbol: KLRF2
pdb: 4IOP;
length: 207
go: ENSG00000256797;
name:
Killer cell lectin-like receptor subfamily F member 2 (Lectin-like receptor F2) (Activating coreceptor NKp65)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; carbohydrate binding [GO:0030246]; protein homodimerization activity [GO:0042803]; cytokine secretion [GO:0050663]; natural killer cell degranulation [GO:0043320]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20194751}; Single-pass type II membrane protein {ECO:0000269|PubMed:20194751}.


uniprotID: Q9P2G9
geneSymbol: KLHL8
name: Kelch-like protein 8
length: 620
go: ENSG00000145332;
snps: rs17854114
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; nucleoplasm [GO:0005654]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2G9-1; Sequence=Displayed; Name=2; IsoId=Q9P2G9-2; Sequence=VSP_054443; Note=No experimental confirmation available.; 


uniprotID: Q9P2G3
geneSymbol: KLHL14
name: Kelch-like protein 14 (Protein interactor of Torsin-1A) (Printor) (Protein interactor of torsinA)
length: 628
go: ENSG00000197705;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; aggresome [GO:0016235]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2G3-1; Sequence=Displayed; Name=2; IsoId=Q9P2G3-2; Sequence=VSP_041342, VSP_041343; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19535332}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:19535332}. Note=Colocalizes with TOR1A at the endoplasmic reticulum level.


uniprotID: A0A0U1RQI7
geneSymbol: KLF18
name: Kruppel-like factor 18
length: 1052
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q96AT1
geneSymbol: KIAA1143
name: Uncharacterized protein KIAA1143
length: 154
go: ENSG00000163807;
snps: rs3853404
sequence:
MSKRNQVSYVRPAEPAFLARFKERVGYREGPTVETKRIQPQPPDEDGDHSDKEDEQPQVVVLKKGDLSVEEVMKIKAEIKAAKADEEPTPADGRIIYRKPVKHPSDEKYSGLTASSKKKKPNEDEVNQDSVKKNSQKQIKNSSLLSFDNEDENE


uniprotID: Q9ULG3
geneSymbol: KIAA1257
name: Uncharacterized protein KIAA1257
length: 409
go: ENSG00000114656;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULG3-1; Sequence=Displayed; Name=2; IsoId=Q9ULG3-2; Sequence=VSP_031739; Note=No experimental confirmation available.; 


uniprotID: P13646
geneSymbol: KRT13
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 13 (Cytokeratin-13) (CK-13) (Keratin-13) (K13)
length: 458
go: ENSG00000171401;
snps: rs12150581 rs60364670 rs59897026 rs59970018 rs60906702 rs60440396 rs760134 rs9891361 rs4796697
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament cytoskeleton [GO:0045111]; keratin filament [GO:0045095]; nucleus [GO:0005634]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; cytoskeleton organization [GO:0007010]; keratinization [GO:0031424]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=P13646-1; Sequence=Displayed; Name=2; IsoId=P13646-2; Sequence=VSP_016376, VSP_016377; Note=No experimental confirmation available.; Name=3; IsoId=P13646-3; Sequence=VSP_038433; 


uniprotID: Q7Z3Y8
geneSymbol: KRT27
reactome: R-HSA-6805567;R-HSA-6809371;
length: 459
go: ENSG00000171446;
snps: rs2469826 rs12453124 rs17558560 rs17558532 rs981684
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9Z320}.
name:
Keratin, type I cytoskeletal 27 (Cytokeratin-27) (CK-27) (Keratin-25C) (K25C) (Keratin-27) (K27) (Type I inner root sheath-specific keratin-K25irs3)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; hair follicle morphogenesis [GO:0031069]; keratinization [GO:0031424]


uniprotID: Q8N1N4
geneSymbol: KRT78
reactome: R-HSA-6805567;R-HSA-6809371;
length: 520
go: ENSG00000170423;
snps: rs11170289 rs2013335 rs2682343 rs10876360
name:
Keratin, type II cytoskeletal 78 (Cytokeratin-78) (CK-78) (Keratin-5b) (Keratin-78) (K78) (Type-II keratin Kb40)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N1N4-1; Sequence=Displayed; Name=2; IsoId=Q8N1N4-2; Sequence=VSP_030419, VSP_030420; Note=No experimental confirmation available.; 


uniprotID: P35908
geneSymbol: KRT2
reactome: R-HSA-6805567;R-HSA-6809371;
length: 639
go: ENSG00000172867;
name:
Keratin, type II cytoskeletal 2 epidermal (Cytokeratin-2e) (CK-2e) (Epithelial keratin-2e) (Keratin-2 epidermis) (Keratin-2e) (K2e) (Type-II keratin Kb2)

sequence:

opentargets:
cornified envelope [GO:0001533]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; intermediate filament [GO:0005882]; keratin filament [GO:0045095]; membrane [GO:0016020]; nucleus [GO:0005634]; cytoskeletal protein binding [GO:0008092]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of epidermis [GO:0030280]; cornification [GO:0070268]; epidermis development [GO:0008544]; intermediate filament organization [GO:0045109]; keratinization [GO:0031424]; keratinocyte activation [GO:0032980]; keratinocyte development [GO:0003334]; keratinocyte migration [GO:0051546]; keratinocyte proliferation [GO:0043616]; peptide cross-linking [GO:0018149]; positive regulation of epidermis development [GO:0045684]

snps:
rs2634041 rs57510142 rs61622714 rs137852631 rs137852632 rs137852631 rs638043 rs758760389 rs56829062 rs60537449 rs137852630 rs61726451 rs137852628 rs137852629 rs61726452 


uniprotID: Q5JYT7
geneSymbol: KIAA1755
name: Uncharacterized protein KIAA1755
length: 1200
go: ENSG00000149633;
snps: rs1205434 rs6024235 rs16987188 rs760998 rs3746471
sequence:


uniprotID: Q7L273
geneSymbol: KCTD9
pdb: 5BXH;
name: BTB/POZ domain-containing protein KCTD9
length: 389
go: ENSG00000104756;
sequence:

opentargets:
intracellular [GO:0005622]; cullin family protein binding [GO:0097602]; identical protein binding [GO:0042802]; protein self-association [GO:0043621]; intracellular signal transduction [GO:0035556]; protein homooligomerization [GO:0051260]; protein ubiquitination [GO:0016567]


uniprotID: O60938
geneSymbol: KERA
reactome: R-HSA-2022854;R-HSA-2022857;R-HSA-3656225;R-HSA-3656243;R-HSA-3656244;
name: Keratocan (KTN) (Keratan sulfate proteoglycan keratocan)
length: 352
go: ENSG00000139330;
snps: rs121917862 rs737111 rs121917858
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; cornea development in camera-type eye [GO:0061303]; keratan sulfate biosynthetic process [GO:0018146]; keratan sulfate catabolic process [GO:0042340]; response to stimulus [GO:0050896]; visual perception [GO:0007601]


uniprotID: Q9H3R0
geneSymbol: KDM4C
reactome: R-HSA-3214842;R-HSA-5625886;
pdb: 2XDP;2XML;4XDO;4XDP;5FJH;5FJK;5KR7;
length: 1056
go: ENSG00000107077;
snps: rs7864351 rs2296067 rs35826653 rs35389625 rs1407856 rs1417290 rs913588
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00537}.
name:
Lysine-specific demethylase 4C (EC 1.14.11.-) (Gene amplified in squamous cell carcinoma 1 protein) (GASC-1 protein) (JmjC domain-containing histone demethylation protein 3C) (Jumonji domain-containing protein 2C)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; androgen receptor binding [GO:0050681]; chromatin binding [GO:0003682]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; enzyme binding [GO:0019899]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K36 specific) [GO:0051864]; histone demethylase activity (H3-K9 specific) [GO:0032454]; methylated histone binding [GO:0035064]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; zinc ion binding [GO:0008270]; blastocyst formation [GO:0001825]; histone H3-K36 demethylation [GO:0070544]; histone H3-K9 demethylation [GO:0033169]; negative regulation of histone H3-K9 trimethylation [GO:1900113]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of neuron differentiation [GO:0045666]; regulation of stem cell differentiation [GO:2000736]; regulation of stem cell population maintenance [GO:2000036]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H3R0-1; Sequence=Displayed; Name=2; IsoId=Q9H3R0-2; Sequence=VSP_018311; Note=No experimental confirmation available.; Name=3; IsoId=Q9H3R0-3; Sequence=VSP_045462, VSP_045463; Note=No experimental confirmation available.; Name=4; IsoId=Q9H3R0-4; Sequence=VSP_046113, VSP_045462, VSP_045463; Note=No experimental confirmation available.; 


uniprotID: Q9UGL1
geneSymbol: KDM5B
reactome: R-HSA-3214842;R-HSA-8866911;
length: 1544
go: ENSG00000117139;
pdb:
2MA5;2MNY;2MNZ;5A1F;5A3N;5A3P;5A3T;5A3W;5FPL;5FPU;5FUN;5FUP;5FV3;5FY4;5FY5;5FY9;5FYB;5FYS;5FYT;5FYU;5FYV;5FYY;5FYZ;5FZ0;5FZ1;5FZ3;5FZ4;5FZ6;5FZ7;5FZ8;5FZ9;5FZA;5FZB;5FZC;5FZD;5FZE;5FZF;5FZG;5FZH;5FZI;5FZK;5FZL;5FZM;5LW9;5LWB;6EIN;6EIU;6EIY;6EJ0;6EJ1;6EK6;

name:
Lysine-specific demethylase 5B (EC 1.14.11.-) (Cancer/testis antigen 31) (CT31) (Histone demethylase JARID1B) (Jumonji/ARID domain-containing protein 1B) (PLU-1) (Retinoblastoma-binding protein 2 homolog 1) (RBP2-H1)

sequence:

opentargets:
cytosol [GO:0005829]; histone methyltransferase complex [GO:0035097]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; dioxygenase activity [GO:0051213]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone binding [GO:0042393]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-dimethyl-K4 specific) [GO:0034648]; histone demethylase activity (H3-K4 specific) [GO:0032453]; histone demethylase activity (H3-trimethyl-K4 specific) [GO:0034647]; methylated histone binding [GO:0035064]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; branching involved in mammary gland duct morphogenesis [GO:0060444]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to leukemia inhibitory factor [GO:1990830]; histone H3-K4 demethylation [GO:0034720]; lens fiber cell differentiation [GO:0070306]; mammary duct terminal end bud growth [GO:0060763]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of gene expression [GO:0010628]; positive regulation of mammary gland epithelial cell proliferation [GO:0033601]; post-embryonic development [GO:0009791]; regulation of estradiol secretion [GO:2000864]; regulation of transcription by RNA polymerase II [GO:0006357]; response to fungicide [GO:0060992]; rhythmic process [GO:0048511]; single fertilization [GO:0007338]; uterus morphogenesis [GO:0061038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGL1-1; Sequence=Displayed; Name=2; IsoId=Q9UGL1-2; Sequence=VSP_026408; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000255|PROSITE-ProRule:PRU00537, ECO:0000269|PubMed:10336460, ECO:0000269|PubMed:12237901}.


uniprotID: Q8TD94
geneSymbol: KLF14
length: 323
go: ENSG00000266265;
snps: rs35770036
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Krueppel-like factor 14 (Basic transcription element-binding protein 5) (BTE-binding protein 5) (Transcription factor BTEB5)

sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; positive regulation of sphingolipid mediated signaling pathway [GO:1902070]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P00568
geneSymbol: AK1
reactome: R-HSA-499943;
pdb: 1Z83;2C95;
length: 194
go: ENSG00000106992;
drug: DB01717;
snps: rs137853204 rs137853205 rs8192462 rs104894101 rs137853203
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Adenylate kinase isoenzyme 1 (AK 1) (EC 2.7.4.3) (EC 2.7.4.6) (ATP-AMP transphosphorylase 1) (ATP:AMP phosphotransferase) (Adenylate monophosphate kinase) (Myokinase)

sequence:
MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEIMEKGQLVPLETVLDMLRDAMVAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; adenylate kinase activity [GO:0004017]; ATP binding [GO:0005524]; nucleoside diphosphate kinase activity [GO:0004550]; ADP biosynthetic process [GO:0006172]; AMP metabolic process [GO:0046033]; ATP metabolic process [GO:0046034]; nucleobase-containing small molecule interconversion [GO:0015949]; nucleoside diphosphate phosphorylation [GO:0006165]; nucleoside triphosphate biosynthetic process [GO:0009142]


uniprotID: Q5HYC2
geneSymbol: KIAA2026
name: Uncharacterized protein KIAA2026
length: 2103
go: ENSG00000183354;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5HYC2-1; Sequence=Displayed; Name=2; IsoId=Q5HYC2-2; Sequence=VSP_039334; 


uniprotID: Q719H9
geneSymbol: KCTD1
reactome: R-HSA-8866904;
pdb: 5BXB;5BXD;
length: 257
go: ENSG00000134504;
snps: rs587776998 rs587776999 rs587776999 rs587777001 rs587777000 rs587777003 rs587777002 rs491684
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18358072}.
name:
BTB/POZ domain-containing protein KCTD1 (Potassium channel tetramerization domain-containing protein 1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; protein homooligomerization [GO:0051260]


uniprotID: Q4VXA5
geneSymbol: KHDC1
name: KH homology domain-containing protein 1
length: 237
go: ENSG00000135314;
opentargets: integral component of membrane [GO:0016021]; RNA binding [GO:0003723]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4VXA5-1; Sequence=Displayed; Name=2; IsoId=Q4VXA5-2; Sequence=VSP_029543; 


uniprotID: Q8WVF5
geneSymbol: KCTD4
name: BTB/POZ domain-containing protein KCTD4
length: 259
go: ENSG00000180332;
opentargets: protein homooligomerization [GO:0051260]
sequence:


uniprotID: Q5JSQ8
geneSymbol: KHDC1L
name: Putative KHDC1-like protein
length: 128
go: ENSG00000256980;
opentargets: RNA binding [GO:0003723]
sequence:
MAVGTSALSKEPWWTLPENFHSPMVFHMEEDQEELIFGLDDTYLRCIELHSHTLIQLERCFTATGQTRVTVVGPPMAKQWLLLMFHCVGSQDSKCHARGLKMLERVRSQPLTNDDLVTSVSLPPYTGD


uniprotID: P03952
geneSymbol: KLKB1
reactome: R-HSA-140837;R-HSA-1592389;
pdb: 2ANW;2ANY;4OGX;4OGY;5F8T;5F8X;5F8Z;5TJX;5TZ9;
length: 638
drug: DB06404;DB09228;DB05311;
location: SUBCELLULAR LOCATION: Secreted.
name:
Plasma kallikrein (EC 3.4.21.34) (Fletcher factor) (Kininogenin) (Plasma prekallikrein) (PKK) [Cleaved into: Plasma kallikrein heavy chain; Plasma kallikrein light chain]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; serine-type endopeptidase activity [GO:0004252]; blood coagulation, intrinsic pathway [GO:0007597]; extracellular matrix disassembly [GO:0022617]; Factor XII activation [GO:0002542]; fibrinolysis [GO:0042730]; plasminogen activation [GO:0031639]; positive regulation of fibrinolysis [GO:0051919]; proteolysis [GO:0006508]; zymogen activation [GO:0031638]

snps:
rs3733402 rs4253257 rs4253373 rs2278542 rs4253376 rs4253377 rs4253379 rs4253301 rs4253316 rs4253325 


uniprotID: Q9P2B2
geneSymbol: PTGFRN
length: 879
go: ENSG00000134247;
snps: rs4546904 rs10801922
name:
Prostaglandin F2 receptor negative regulator (CD9 partner 1) (CD9P-1) (Glu-Trp-Ile EWI motif-containing protein F) (EWI-F) (Prostaglandin F2-alpha receptor regulatory protein) (Prostaglandin F2-alpha receptor-associated protein) (CD antigen CD315)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; lipid droplet organization [GO:0034389]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: Q96NZ1
geneSymbol: FOXN4
name: Forkhead box protein N4
length: 517
go: ENSG00000139445;
snps: rs11609341
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer sequence-specific DNA binding [GO:0001158]; amacrine cell differentiation [GO:0035881]; atrioventricular canal development [GO:0036302]; heart looping [GO:0001947]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of heart contraction [GO:0008016]; regulation of transcription, DNA-templated [GO:0006355]; retina layer formation [GO:0010842]; ventral spinal cord interneuron fate commitment [GO:0060579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96NZ1-1; Sequence=Displayed; Name=2; IsoId=Q96NZ1-2; Sequence=VSP_017227, VSP_017228, VSP_017229; Note=No experimental confirmation available.; Name=3; IsoId=Q96NZ1-3; Sequence=VSP_054325; 


uniprotID: P55317
geneSymbol: FOXA1
reactome: R-HSA-9018519;
length: 472
go: ENSG00000129514;
snps: rs7144658 rs35220193 rs33984772
name:
Hepatocyte nuclear factor 3-alpha (HNF-3-alpha) (HNF-3A) (Forkhead box protein A1) (Transcription factor 3A) (TCF-3A)

sequence:

opentargets:
fibrillar center [GO:0001650]; microvillus [GO:0005902]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; alveolar secondary septum development [GO:0061144]; anatomical structure formation involved in morphogenesis [GO:0048646]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; chromatin remodeling [GO:0006338]; dopaminergic neuron differentiation [GO:0071542]; dorsal/ventral neural tube patterning [GO:0021904]; epithelial cell maturation involved in prostate gland development [GO:0060743]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; epithelial-mesenchymal signaling involved in prostate gland development [GO:0060738]; glucose homeostasis [GO:0042593]; hormone metabolic process [GO:0042445]; lung epithelial cell differentiation [GO:0060487]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron fate specification [GO:0048665]; Notch signaling pathway [GO:0007219]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell-cell adhesion mediated by cadherin [GO:2000049]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of transcription by RNA polymerase II [GO:0045944]; prostate gland epithelium morphogenesis [GO:0060740]; prostate gland stromal morphogenesis [GO:0060741]; regulation of transcription by RNA polymerase II [GO:0006357]; respiratory basal cell differentiation [GO:1902691]; response to estradiol [GO:0032355]; secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development [GO:0060528]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55317-1; Sequence=Displayed; Name=2; IsoId=P55317-2; Sequence=VSP_055094; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:15987773, ECO:0000269|PubMed:16331276}.


uniprotID: Q68CZ1
geneSymbol: RPGRIP1L
reactome: R-HSA-5610787;R-HSA-5620912;
pdb: 2YRB;
name: Protein fantom (Nephrocystin-8) (RPGR-interacting protein 1-like protein) (RPGRIP1-like protein)
length: 1315
go: ENSG00000103494;
sequence:

opentargets:
axonemal microtubule [GO:0005879]; axoneme [GO:0005930]; bicellular tight junction [GO:0005923]; cell-cell junction [GO:0005911]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary rootlet [GO:0035253]; ciliary transition zone [GO:0035869]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; photoreceptor connecting cilium [GO:0032391]; plasma membrane [GO:0005886]; thromboxane A2 receptor binding [GO:0031870]; camera-type eye development [GO:0043010]; cerebellum development [GO:0021549]; ciliary basal body-plasma membrane docking [GO:0097711]; cochlea development [GO:0090102]; corpus callosum development [GO:0022038]; determination of left/right symmetry [GO:0007368]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; establishment of planar polarity [GO:0001736]; establishment or maintenance of cell polarity [GO:0007163]; in utero embryonic development [GO:0001701]; kidney development [GO:0001822]; lateral ventricle development [GO:0021670]; liver development [GO:0001889]; negative regulation of G protein-coupled receptor signaling pathway [GO:0045744]; neural tube patterning [GO:0021532]; non-motile cilium assembly [GO:1905515]; nose development [GO:0043584]; olfactory bulb development [GO:0021772]; pericardium development [GO:0060039]; regulation of smoothened signaling pathway [GO:0008589]

snps:
rs61747071 rs375776718 rs138155747 rs147331527 rs772900011 rs121918198 rs898062661 rs145572901 rs267607020 rs532768944 rs121918200 rs2302677 rs776795273 rs2111119 rs139974543 rs151332923 rs3213758 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q68CZ1-1; Sequence=Displayed; Name=2; IsoId=Q68CZ1-2; Sequence=VSP_026161, VSP_026162; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8CG73, ECO:0000269|PubMed:21685204}. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q8CG73}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q8CG73}. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. Localizes to the ciliary transition zone. {ECO:0000250|UniProtKB:Q8CG73}.


uniprotID: Q13069
geneSymbol: GAGE5
name: G antigen 5 (GAGE-5) (Cancer/testis antigen 4.5) (CT4.5)
length: 117
sequence:
MSWRGRSTYYWPRPRRYVQPPEVIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEKQSQC


uniprotID: Q8N878
geneSymbol: FRMD1
name: FERM domain-containing protein 1
length: 549
go: ENSG00000153303;
opentargets: cytoskeleton [GO:0005856]
snps: rs902393 rs1548349
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N878-1; Sequence=Displayed; Name=2; IsoId=Q8N878-2; Sequence=VSP_041267; 


uniprotID: Q6ZUU3
geneSymbol: FOXL2NB
name: FOXL2 neighbor protein
length: 175
go: ENSG00000206262;
opentargets: fibrillar center [GO:0001650]
sequence:
MTRTPVGSARTRPKPRKLGPQRGKALQASSRLSESPALVKKRMPDACTLGRAGIGLPKMCLHMAVRHSKAQKTGPGILQQRQKPPAPRASGGPALLGKRRGCSEAGSASLEPLSSSRAAAGCLNQVPLSPFLAGPRNTRRLPAPERERIELAATLCLEGWPLRCLASKGKLHCVY


uniprotID: P02794
geneSymbol: FTH1
reactome: R-HSA-3000480;R-HSA-432722;R-HSA-6798695;R-HSA-917937;
length: 183
go: ENSG00000167996;
drug: DB09147;DB09412;DB00893;
pdb:
1FHA;2CEI;2CHI;2CIH;2CLU;2CN6;2CN7;2FHA;2IU2;2Z6M;3AJO;3AJP;3AJQ;3ERZ;3ES3;4DYX;4DYY;4DYZ;4DZ0;4OYN;4Y08;4YKH;4ZJK;5CMQ;5CMR;5GN8;5GOU;5JKK;5JKL;5JKM;5N26;5N27;5UP7;5UP8;5UP9;5VTD;5XB1;5YI5;6B8F;6B8G;6FTV;

name:
Ferritin heavy chain (Ferritin H subunit) (EC 1.16.3.1) (Cell proliferation-inducing gene 15 protein) [Cleaved into: Ferritin heavy chain, N-terminally processed]

sequence:
MTTASTSQVRQNYHQDSEAAINRQINLELYASYVYLSMSYYFDRDDVALKNFAKYFLHQSHEEREHAEKLMKLQNQRGGRIFLQDIKKPDCDDWESGLNAMECALHLEKNVNQSLLELHKLATDKNDPHLCDFIETHYLNEQVKAIKELGDHVTNLRKMGAPESGLAEYLFDKHTLGDSDNES

opentargets:
autolysosome [GO:0044754]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; intracellular ferritin complex [GO:0008043]; nucleus [GO:0005634]; tertiary granule lumen [GO:1904724]; ferric iron binding [GO:0008199]; ferrous iron binding [GO:0008198]; ferroxidase activity [GO:0004322]; identical protein binding [GO:0042802]; iron ion binding [GO:0005506]; cellular iron ion homeostasis [GO:0006879]; immune response [GO:0006955]; intracellular sequestering of iron ion [GO:0006880]; iron ion import [GO:0097286]; negative regulation of cell proliferation [GO:0008285]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of necrotic cell death [GO:0060547]; neutrophil degranulation [GO:0043312]


uniprotID: Q13068
geneSymbol: GAGE4
name: G antigen 4 (GAGE-4) (Cancer/testis antigen 4.4) (CT4.4)
length: 117
go: ENSG00000205777;
sequence:
MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEGQSQC


uniprotID: Q8WU20
geneSymbol: FRS2
pdb: 1XR0;2MFQ;
length: 508
go: ENSG00000166225;
snps: rs12580717 rs35232109
location: SUBCELLULAR LOCATION: Endomembrane system. Note=Cytoplasmic, membrane-bound.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-170968;R-HSA-2219530;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654700;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655291;R-HSA-5655302;R-HSA-5673001;R-HSA-6811558;R-HSA-8853334;R-HSA-8853338;R-HSA-8853659;R-HSA-9028731;

name:
Fibroblast growth factor receptor substrate 2 (FGFR substrate 2) (FGFR-signaling adaptor SNT) (Suc1-associated neurotrophic factor target 1) (SNT-1)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytosol [GO:0005829]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; neurotrophin TRKA receptor binding [GO:0005168]; phosphatase activator activity [GO:0019211]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; activation of MAPK activity [GO:0000187]; activation of MAPKK activity [GO:0000186]; anterior/posterior axis specification, embryo [GO:0008595]; axon guidance [GO:0007411]; fibroblast growth factor receptor signaling pathway [GO:0008543]; forebrain development [GO:0030900]; G protein-coupled receptor signaling pathway [GO:0007186]; gastrulation with mouth forming second [GO:0001702]; lens fiber cell development [GO:0070307]; MAPK cascade [GO:0000165]; negative regulation of cardiac muscle cell differentiation [GO:2000726]; neuroblast proliferation [GO:0007405]; neurotrophin TRK receptor signaling pathway [GO:0048011]; optic placode formation involved in camera-type eye formation [GO:0046619]; organ induction [GO:0001759]; positive regulation of protein kinase B signaling [GO:0051897]; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis [GO:0060527]; regulation of apoptotic process [GO:0042981]; regulation of epithelial cell proliferation [GO:0050678]; regulation of ERK1 and ERK2 cascade [GO:0070372]; transmembrane receptor protein tyrosine phosphatase signaling pathway [GO:0007185]; ventricular septum development [GO:0003281]


uniprotID: Q16676
geneSymbol: FOXD1
length: 465
go: ENSG00000251493;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Forkhead box protein D1 (Forkhead-related protein FKHL8) (Forkhead-related transcription factor 4) (FREAC-4)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA binding, bending [GO:0008301]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; axon guidance [GO:0007411]; cell differentiation [GO:0030154]; dichotomous subdivision of terminal units involved in ureteric bud branching [GO:0060678]; luteinizing hormone secretion [GO:0032275]; metanephric capsule development [GO:0072213]; metanephric capsule specification [GO:0072267]; metanephric nephron development [GO:0072210]; negative regulation of transcription, DNA-templated [GO:0045892]; nephrogenic mesenchyme development [GO:0072076]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of gene expression [GO:0010628]; positive regulation of kidney development [GO:0090184]; regulation of transcription by RNA polymerase II [GO:0006357]

snps:
rs775281482 rs7705335 rs562222810 rs552595262 rs1039708369 rs951256776 rs917127030 rs992724147 rs540644822 


uniprotID: Q9BZ68
geneSymbol: FRMD8P1
name: Putative FERM domain-containing protein FRMD8P1 (FERM domain-containing 8 pseudogene 1)
length: 369
opentargets: cytoskeleton [GO:0005856]
sequence:


uniprotID: P19883
geneSymbol: FST
reactome: R-HSA-2473224;
pdb: 2B0U;2P6A;3HH2;5JHW;
name: Follistatin (FS) (Activin-binding protein)
length: 344
go: ENSG00000134363;
drug: DB01666;
snps: rs11745088
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; activin binding [GO:0048185]; activin receptor antagonist activity [GO:0038102]; heparan sulfate proteoglycan binding [GO:0043395]; hematopoietic progenitor cell differentiation [GO:0002244]; negative regulation of activin receptor signaling pathway [GO:0032926]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of hair follicle development [GO:0051798]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=FS315, FS-315; IsoId=P19883-1; Sequence=Displayed; Name=2; Synonyms=FS288, FS-288; IsoId=P19883-2; Sequence=VSP_001565; 


uniprotID: P21462
geneSymbol: FPR1
reactome: R-HSA-418594;R-HSA-444473;R-HSA-6783783;R-HSA-6798695;
length: 350
go: ENSG00000171051;
drug: DB00716;
snps: rs5030878 rs2070745 rs5030880 rs1042229 rs867228
name:
fMet-Leu-Phe receptor (fMLP receptor) (N-formyl peptide receptor) (FPR) (N-formylpeptide chemoattractant receptor)

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor binding [GO:0001664]; N-formyl peptide receptor activity [GO:0004982]; RAGE receptor binding [GO:0050786]; scavenger receptor binding [GO:0005124]; activation of MAPK activity [GO:0000187]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; chemotaxis [GO:0006935]; complement receptor mediated signaling pathway [GO:0002430]; cytokine-mediated signaling pathway [GO:0019221]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; neutrophil degranulation [GO:0043312]; nitric oxide mediated signal transduction [GO:0007263]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15153520, ECO:0000269|PubMed:2176894, ECO:0000305|PubMed:10514456}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q11130
geneSymbol: FUT7
length: 342
go: ENSG00000180549;
snps: rs545570871
name:
Alpha-(1,3)-fucosyltransferase 7 (EC 2.4.1.-) (Fucosyltransferase 7) (Fucosyltransferase VII) (Fuc-TVII) (FucT-VII) (Galactoside 3-L-fucosyltransferase) (Selectin ligand synthase)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; alpha-(1->3)-fucosyltransferase activity [GO:0046920]; fucosyltransferase activity [GO:0008417]; CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation [GO:0002361]; ceramide metabolic process [GO:0006672]; fucosylation [GO:0036065]; L-fucose catabolic process [GO:0042355]; leukocyte migration involved in immune response [GO:0002522]; protein glycosylation [GO:0006486]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Membrane-bound form in trans cisternae of Golgi.


uniprotID: Q8N461
geneSymbol: FBXL16
reactome: R-HSA-8951664;R-HSA-983168;
name: F-box/LRR-repeat protein 16 (F-box and leucine-rich repeat protein 16)
length: 479
go: ENSG00000127585;
snps: rs17855603
sequence:

opentargets:
cytosol [GO:0005829]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin-protein transferase activity [GO:0004842]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N461-1; Sequence=Displayed; Name=2; IsoId=Q8N461-2; Sequence=VSP_056996; Note=No experimental confirmation available.; 


uniprotID: Q3SYB3
geneSymbol: FOXD4L6
name: Forkhead box protein D4-like 6 (FOXD4-like 6)
length: 417
go: ENSG00000273514;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
sequence:


uniprotID: O75899
geneSymbol: GABBR2
reactome: R-HSA-1296041;R-HSA-418594;R-HSA-420499;R-HSA-977444;R-HSA-997272;
pdb: 4F11;4F12;4MQE;4MQF;4MR7;4MR8;4MR9;4MRM;4MS1;4MS3;4MS4;4PAS;
length: 941
go: ENSG00000136928;
drug: DB08891;DB08892;DB00181;DB05010;
snps: rs35449008 rs922847767 rs10985765
name:
Gamma-aminobutyric acid type B receptor subunit 2 (GABA-B receptor 2) (GABA-B-R2) (GABA-BR2) (GABABR2) (Gb2) (G-protein coupled receptor 51) (HG20)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; G protein-coupled receptor heterodimeric complex [GO:0038039]; GABA receptor complex [GO:1902710]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; G protein-coupled GABA receptor activity [GO:0004965]; protein heterodimerization activity [GO:0046982]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]; gamma-aminobutyric acid signaling pathway [GO:0007214]; negative regulation of adenylate cyclase activity [GO:0007194]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10328880, ECO:0000269|PubMed:15617512, ECO:0000269|PubMed:9872316}; Multi-pass membrane protein {ECO:0000305}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:O88871}; Multi-pass membrane protein {ECO:0000305}. Note=Coexpression of GABBR1 and GABBR2 is required for GABBR1 maturation and transport to the plasma membrane. In contrast, GABBR2 does not depend on GABBR1 for transport to the cell membrane. {ECO:0000269|PubMed:15617512}.


uniprotID: O15117
geneSymbol: FYB1
reactome: R-HSA-202433;R-HSA-391160;
pdb: 1RI9;2GTJ;2GTO;
length: 783
go: ENSG00000082074;
snps: rs1642515 rs3749741 rs379707
name:
FYN-binding protein 1 (Adhesion and degranulation promoting adaptor protein) (ADAP) (FYB-120/130) (p120/p130) (FYN-T-binding protein) (SLAP-130) (SLP-76-associated phosphoprotein)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell junction [GO:0030054]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; lipid binding [GO:0008289]; protein-containing complex binding [GO:0044877]; signaling receptor binding [GO:0005102]; immune response [GO:0006955]; intracellular signal transduction [GO:0035556]; NLS-bearing protein import into nucleus [GO:0006607]; protein localization to plasma membrane [GO:0072659]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=FYB-120; IsoId=O15117-1; Sequence=Displayed; Name=FYB-130; IsoId=O15117-2; Sequence=VSP_042309; Name=3; IsoId=O15117-3; Sequence=VSP_047288, VSP_042309; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9671755}. Nucleus {ECO:0000250}. Cell junction {ECO:0000250|UniProtKB:O35601}.


uniprotID: P07954
geneSymbol: FH
reactome: R-HSA-71403;
pdb: 3E04;5D6B;5UPP;
name: Fumarate hydratase, mitochondrial (Fumarase) (EC 4.2.1.2)
length: 510
go: ENSG00000091483;
snps: rs121913121 rs886039363 rs863224015 rs779707997 rs752232718 rs121913123 rs935002190 rs121913118
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; tricarboxylic acid cycle enzyme complex [GO:0045239]; fumarate hydratase activity [GO:0004333]; fumarate metabolic process [GO:0006106]; homeostasis of number of cells within a tissue [GO:0048873]; malate metabolic process [GO:0006108]; positive regulation of cold-induced thermogenesis [GO:0120162]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=Mitochondrial; IsoId=P07954-1; Sequence=Displayed; Name=Cytoplasmic; IsoId=P07954-2; Sequence=VSP_018965; 

location:
SUBCELLULAR LOCATION: Isoform Mitochondrial: Mitochondrion.; SUBCELLULAR LOCATION: Isoform Cytoplasmic: Cytoplasm.


uniprotID: Q8N3F9
geneSymbol: GPR137C
name: Integral membrane protein GPR137C (Transmembrane 7 superfamily member 1-like 2 protein)
length: 429
go: ENSG00000180998;
opentargets: integral component of membrane [GO:0016021]
snps: rs762063
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q3MIP1
geneSymbol: ITPRIPL2
name: Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2
length: 535
go: ENSG00000205730;
opentargets: integral component of membrane [GO:0016021]
snps: rs8051801 rs11074362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: O94992
geneSymbol: HEXIM1
pdb: 2GD7;3S9G;
length: 359
go: ENSG00000186834;
name:
Protein HEXIM1 (Cardiac lineage protein 1) (Estrogen down-regulated gene 1 protein) (Hexamethylene bis-acetamide-inducible protein 1) (Menage a quatre protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 7SK snRNA binding [GO:0097322]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; snRNA binding [GO:0017069]; activation of innate immune response [GO:0002218]; heart development [GO:0007507]; innate immune response [GO:0045087]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of signal transduction by p53 class mediator [GO:1901798]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12581153, ECO:0000269|PubMed:12832472, ECO:0000269|PubMed:12941847, ECO:0000269|PubMed:16362050, ECO:0000269|PubMed:17395637}. Cytoplasm {ECO:0000269|PubMed:12581153, ECO:0000269|PubMed:17395637}. Note=Binds alpha-importin and is mostly nuclear (PubMed:16362050).


uniprotID: Q96MH2
geneSymbol: HEXIM2
name: Protein HEXIM2 (Hexamethylene bis-acetamide-inducible protein 2)
length: 286
go: ENSG00000168517;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15994294}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 7SK snRNA binding [GO:0097322]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; identical protein binding [GO:0042802]; snRNA binding [GO:0017069]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]


uniprotID: Q9Y2B9
geneSymbol: PKIG
name: cAMP-dependent protein kinase inhibitor gamma (PKI-gamma)
sequence: MMEVESSYSDFISCDRTGRRNAVPDIQGDSEAVSVRKLAGDMGELALEGAEGQVEGSAPDKEAGNQPQSSDGTTSS
length: 76
go: ENSG00000168734;
opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cAMP-dependent protein kinase inhibitor activity [GO:0004862]; negative regulation of cAMP-dependent protein kinase activity [GO:2000480]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of transcription by RNA polymerase II [GO:0000122]; signal transduction [GO:0007165]


uniprotID: Q96QV1
geneSymbol: HHIP
reactome: R-HSA-5632681;
pdb: 2WFT;2WFX;2WG3;2WG4;3HO3;3HO4;3HO5;
name: Hedgehog-interacting protein (HHIP) (HIP)
length: 700
go: ENSG00000164161;
sequence:

opentargets:
cell surface [GO:0009986]; ciliary membrane [GO:0060170]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; nucleus [GO:0005634]; catalytic activity [GO:0003824]; hedgehog family protein binding [GO:0097108]; zinc ion binding [GO:0008270]; dorsal/ventral pattern formation [GO:0009953]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; negative regulation of smoothened signaling pathway [GO:0045879]; neuroblast proliferation [GO:0007405]; regulation of fibroblast growth factor receptor signaling pathway [GO:0040036]; skeletal system morphogenesis [GO:0048705]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96QV1-1; Sequence=Displayed; Name=2; IsoId=Q96QV1-2; Sequence=VSP_013192, VSP_013193; Note=Potentially soluble form.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Secreted {ECO:0000250}. Note=The last 22 C-terminal amino acids may participate in cell membrane attachment.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000305}.


uniprotID: Q14526
geneSymbol: HIC1
reactome: R-HSA-3232118;
name: Hypermethylated in cancer 1 protein (Hic-1) (Zinc finger and BTB domain-containing protein 29)
length: 733
go: ENSG00000177374;
snps: rs1063317
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11554746}.
sequence:

opentargets:
chromatin [GO:0000785]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone deacetylase binding [GO:0042826]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; cellular response to DNA damage stimulus [GO:0006974]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of Wnt signaling pathway [GO:0030178]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; regulation of transcription, DNA-templated [GO:0006355]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q14526-1; Sequence=Displayed; Name=2; IsoId=Q14526-2; Sequence=VSP_006826; 


uniprotID: Q53FT3
geneSymbol: HIKESHI
reactome: R-HSA-3371453;
pdb: 3WVZ;3WW0;
name: Protein Hikeshi
length: 197
go: ENSG00000149196;
snps: rs11539213 rs202003795
sequence:
MFGCLVAGRLVQTAAQQVAEDKFVFDLPDYESINHVVVFMLGTIPFPEGMGGSVYFSYPDSNGMPVWQLLGFVTNGKPSAIFKISGLKSGEGSQHPFGAMNIVRTPSVAQIGISVELLDSMAQQTPVGNAAVSSVDSFTQFTQKMLDNFYNFASSFAVSQAQMTPSPSEMFIPANVVLKWYENFQRRLAQNPLFWKT

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Hsp70 protein binding [GO:0030544]; protein transporter activity [GO:0008565]; cellular response to heat [GO:0034605]; Golgi organization [GO:0007030]; lung development [GO:0030324]; protein import into nucleus [GO:0006606]; protein transport [GO:0015031]; regulation of cellular response to heat [GO:1900034]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9DD02}. Cytoplasm, cytosol {ECO:0000269|PubMed:22541429}. Nucleus {ECO:0000269|PubMed:22541429}.


uniprotID: Q9BQA5
geneSymbol: HINFP
length: 517
go: ENSG00000172273;
snps: rs17850972 rs17850974 rs34118252 rs100803
name:
Histone H4 transcription factor (Histone nuclear factor P) (HiNF-P) (MBD2-interacting zinc finger protein) (Methyl-CpG-binding protein 2-interacting zinc finger protein)

sequence:

opentargets:
Cajal body [GO:0015030]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription regulatory region DNA binding [GO:0044212]; DNA damage checkpoint [GO:0000077]; DNA repair [GO:0006281]; establishment of protein localization [GO:0045184]; G1/S transition of mitotic cell cycle [GO:0000082]; in utero embryonic development [GO:0001701]; myoblast differentiation [GO:0045445]; negative regulation of gene expression [GO:0010629]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of gene expression [GO:0010468]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQA5-1; Sequence=Displayed; Name=2; IsoId=Q9BQA5-2; Sequence=VSP_044719, VSP_044720; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11553631, ECO:0000269|PubMed:14585971, ECO:0000269|PubMed:15988025, ECO:0000269|PubMed:18850719}. Note=Associated with discrete nuclear foci.


uniprotID: P46940
geneSymbol: IQGAP1
pdb: 1X0H;2RR8;3FAY;3I6X;5L0O;
name: Ras GTPase-activating-like protein IQGAP1 (p195)
length: 1657
go: ENSG00000140575;
snps: rs12324924
reactome:
R-HSA-373753;R-HSA-381676;R-HSA-5626467;R-HSA-5674135;R-HSA-6798695;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

sequence:

opentargets:
actin filament [GO:0005884]; axon [GO:0030424]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; focal adhesion [GO:0005925]; growth cone [GO:0030426]; lateral plasma membrane [GO:0016328]; membrane raft [GO:0045121]; microtubule [GO:0005874]; midbody [GO:0030496]; neuron projection [GO:0043005]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; secretory granule membrane [GO:0030667]; slit diaphragm [GO:0036057]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; GTPase activator activity [GO:0005096]; GTPase inhibitor activity [GO:0005095]; mitogen-activated protein kinase binding [GO:0051019]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; protein serine/threonine kinase activator activity [GO:0043539]; protein-containing complex binding [GO:0044877]; protein-containing complex scaffold activity [GO:0032947]; Rac GTPase binding [GO:0048365]; S100 protein binding [GO:0044548]; small GTPase binding [GO:0031267]; cell migration [GO:0016477]; cellular response to calcium ion [GO:0071277]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; epidermal growth factor receptor signaling pathway [GO:0007173]; fibroblast growth factor receptor signaling pathway [GO:0008543]; glomerular visceral epithelial cell development [GO:0072015]; negative regulation of dephosphorylation [GO:0035305]; neuron projection extension [GO:1990138]; neutrophil degranulation [GO:0043312]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of cellular protein localization [GO:1903829]; positive regulation of dendrite development [GO:1900006]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of peptidyl-tyrosine autophosphorylation [GO:1900086]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; regulation of cytokine production [GO:0001817]; regulation of mitotic cell cycle [GO:0007346]; response to angiotensin [GO:1990776]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15355962, ECO:0000269|PubMed:29033352}. Nucleus {ECO:0000269|PubMed:20883816, ECO:0000269|PubMed:29033352}. Cytoplasm {ECO:0000269|PubMed:20883816, ECO:0000269|PubMed:29033352}. Note=Subcellular distribution is regulated by the cell cycle, nuclear levels increase at G1/S phase (PubMed:20883816). {ECO:0000269|PubMed:20883816}.


