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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes FDA approved drug targets Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
p31.3
Chromosome location (bp)
64833223 - 65067754
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway 1,2,3,4,5. Kinase partner for the interleukin (IL)-2 receptor 6 as well as interleukin (IL)-10 receptor 7. Kinase partner for the type I interferon receptor IFNAR2 8,9,10,11,12. In response to interferon-binding to IFNAR1-IFNAR2 heterodimer, phosphorylates and activates its binding partner IFNAR2, creating docking sites for STAT proteins 13. Directly phosphorylates STAT proteins but also activates STAT signaling through the transactivation of other JAK kinases associated with signaling receptors 14,15,16....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Kinase, Transferase, Tyrosine-protein kinase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005126[cytokine receptor binding] GO:0005131[growth hormone receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007260[tyrosine phosphorylation of STAT protein] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0030154[cell differentiation] GO:0030155[regulation of cell adhesion] GO:0031625[ubiquitin protein ligase binding] GO:0031730[CCR5 chemokine receptor binding] GO:0034112[positive regulation of homotypic cell-cell adhesion] GO:0035556[intracellular signal transduction] GO:0038110[interleukin-2-mediated signaling pathway] GO:0038196[type III interferon signaling pathway] GO:0046677[response to antibiotic] GO:0046872[metal ion binding] GO:0051239[regulation of multicellular organismal process] GO:0060333[type II interferon-mediated signaling pathway] GO:0060337[type I interferon signaling pathway] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0070102[interleukin-6-mediated signaling pathway] GO:0098586[cellular response to virus] GO:0150105[protein localization to cell-cell junction] GO:1903672[positive regulation of sprouting angiogenesis]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005126[cytokine receptor binding] GO:0005131[growth hormone receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007260[tyrosine phosphorylation of STAT protein] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0030154[cell differentiation] GO:0030155[regulation of cell adhesion] GO:0031625[ubiquitin protein ligase binding] GO:0034112[positive regulation of homotypic cell-cell adhesion] GO:0035556[intracellular signal transduction] GO:0038110[interleukin-2-mediated signaling pathway] GO:0038196[type III interferon signaling pathway] GO:0046677[response to antibiotic] GO:0046872[metal ion binding] GO:0051239[regulation of multicellular organismal process] GO:0060333[type II interferon-mediated signaling pathway] GO:0060337[type I interferon signaling pathway] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0070102[interleukin-6-mediated signaling pathway] GO:0098586[cellular response to virus] GO:0150105[protein localization to cell-cell junction] GO:1903672[positive regulation of sprouting angiogenesis]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005126[cytokine receptor binding] GO:0005131[growth hormone receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007260[tyrosine phosphorylation of STAT protein] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0030154[cell differentiation] GO:0030155[regulation of cell adhesion] GO:0031625[ubiquitin protein ligase binding] GO:0034112[positive regulation of homotypic cell-cell adhesion] GO:0035556[intracellular signal transduction] GO:0038110[interleukin-2-mediated signaling pathway] GO:0038196[type III interferon signaling pathway] GO:0046677[response to antibiotic] GO:0046872[metal ion binding] GO:0051239[regulation of multicellular organismal process] GO:0060333[type II interferon-mediated signaling pathway] GO:0060337[type I interferon signaling pathway] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0070102[interleukin-6-mediated signaling pathway] GO:0098586[cellular response to virus] GO:0150105[protein localization to cell-cell junction] GO:1903672[positive regulation of sprouting angiogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005126[cytokine receptor binding] GO:0005131[growth hormone receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007260[tyrosine phosphorylation of STAT protein] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0030154[cell differentiation] GO:0030155[regulation of cell adhesion] GO:0031625[ubiquitin protein ligase binding] GO:0034112[positive regulation of homotypic cell-cell adhesion] GO:0035556[intracellular signal transduction] GO:0038110[interleukin-2-mediated signaling pathway] GO:0038196[type III interferon signaling pathway] GO:0046677[response to antibiotic] GO:0046872[metal ion binding] GO:0051239[regulation of multicellular organismal process] GO:0060333[type II interferon-mediated signaling pathway] GO:0060337[type I interferon signaling pathway] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0070102[interleukin-6-mediated signaling pathway] GO:0098586[cellular response to virus] GO:0150105[protein localization to cell-cell junction] GO:1903672[positive regulation of sprouting angiogenesis]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005126[cytokine receptor binding] GO:0005131[growth hormone receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007260[tyrosine phosphorylation of STAT protein] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0030154[cell differentiation] GO:0030155[regulation of cell adhesion] GO:0031625[ubiquitin protein ligase binding] GO:0034112[positive regulation of homotypic cell-cell adhesion] GO:0035556[intracellular signal transduction] GO:0038110[interleukin-2-mediated signaling pathway] GO:0038196[type III interferon signaling pathway] GO:0046677[response to antibiotic] GO:0046872[metal ion binding] GO:0051239[regulation of multicellular organismal process] GO:0060333[type II interferon-mediated signaling pathway] GO:0060337[type I interferon signaling pathway] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0070102[interleukin-6-mediated signaling pathway] GO:0098586[cellular response to virus] GO:0150105[protein localization to cell-cell junction] GO:1903672[positive regulation of sprouting angiogenesis]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005126[cytokine receptor binding] GO:0005131[growth hormone receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007260[tyrosine phosphorylation of STAT protein] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0030154[cell differentiation] GO:0030155[regulation of cell adhesion] GO:0031625[ubiquitin protein ligase binding] GO:0034112[positive regulation of homotypic cell-cell adhesion] GO:0035556[intracellular signal transduction] GO:0038110[interleukin-2-mediated signaling pathway] GO:0038196[type III interferon signaling pathway] GO:0046677[response to antibiotic] GO:0046872[metal ion binding] GO:0051239[regulation of multicellular organismal process] GO:0060333[type II interferon-mediated signaling pathway] GO:0060337[type I interferon signaling pathway] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0070102[interleukin-6-mediated signaling pathway] GO:0098586[cellular response to virus] GO:0150105[protein localization to cell-cell junction] GO:1903672[positive regulation of sprouting angiogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
