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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
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
19
Cytoband
p13.11
Chromosome location (bp)
17824780 - 17848071
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, upon IL2R activation by IL2, JAK1 and JAK3 molecules bind to IL2R beta (IL2RB) and gamma chain (IL2RG) subunits inducing the tyrosine phosphorylation of both receptor subunits on their cytoplasmic domain. Then, STAT5A and STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Once activated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in a cytokine-specific fashion....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Kinase, Transferase, Tyrosine-protein kinase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Adaptive immunity, Immunity, Innate immunity
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]...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 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 Primary immunodeficiency 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:0002250[adaptive immune response] GO:0002376[immune system process] GO:0002731[negative regulation of dendritic cell cytokine production] 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:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0007167[enzyme-linked receptor protein signaling pathway] GO:0007204[positive regulation of cytosolic calcium ion concentration] 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:0018108[peptidyl-tyrosine phosphorylation] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0030154[cell differentiation] GO:0030183[B cell differentiation] GO:0030218[erythrocyte differentiation] GO:0032693[negative regulation of interleukin-10 production] GO:0032695[negative regulation of interleukin-12 production] GO:0035556[intracellular signal transduction] GO:0035771[interleukin-4-mediated signaling pathway] GO:0038110[interleukin-2-mediated signaling pathway] GO:0042102[positive regulation of T cell proliferation] GO:0042104[positive regulation of activated T cell proliferation] GO:0042981[regulation of apoptotic process] GO:0043029[T cell homeostasis] GO:0045087[innate immune response] GO:0045221[negative regulation of FasL production] GO:0045626[negative regulation of T-helper 1 cell differentiation] GO:0046425[regulation of receptor signaling pathway via JAK-STAT] GO:0050868[negative regulation of T cell activation] GO:0051770[positive regulation of nitric-oxide synthase biosynthetic process] GO:0051928[positive regulation of calcium ion transport] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0070232[regulation of T cell apoptotic process] GO:0070244[negative regulation of thymocyte apoptotic process] GO:0070669[response to interleukin-2] GO:0070670[response to interleukin-4] GO:0070672[response to interleukin-15] GO:0071104[response to interleukin-9]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases 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 Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0002731[negative regulation of dendritic cell cytokine production] 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:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0007167[enzyme-linked receptor protein signaling pathway] 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:0018108[peptidyl-tyrosine phosphorylation] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0030154[cell differentiation] GO:0030183[B cell differentiation] GO:0030218[erythrocyte differentiation] GO:0032693[negative regulation of interleukin-10 production] GO:0032695[negative regulation of interleukin-12 production] GO:0035556[intracellular signal transduction] GO:0035771[interleukin-4-mediated signaling pathway] GO:0038110[interleukin-2-mediated signaling pathway] GO:0042981[regulation of apoptotic process] GO:0043029[T cell homeostasis] GO:0045087[innate immune response] GO:0045221[negative regulation of FasL production] GO:0045626[negative regulation of T-helper 1 cell differentiation] GO:0046425[regulation of receptor signaling pathway via JAK-STAT] GO:0050868[negative regulation of T cell activation] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0070232[regulation of T cell apoptotic process] GO:0070244[negative regulation of thymocyte apoptotic process] GO:0070669[response to interleukin-2] GO:0070670[response to interleukin-4] GO:0070672[response to interleukin-15] GO:0071104[response to interleukin-9]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases 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 Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0002731[negative regulation of dendritic cell cytokine production] 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:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0007167[enzyme-linked receptor protein signaling pathway] 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:0018108[peptidyl-tyrosine phosphorylation] GO:0019221[cytokine-mediated signaling pathway] GO:0019903[protein phosphatase binding] GO:0030154[cell differentiation] GO:0030183[B cell differentiation] GO:0030218[erythrocyte differentiation] GO:0032693[negative regulation of interleukin-10 production] GO:0032695[negative regulation of interleukin-12 production] GO:0035556[intracellular signal transduction] GO:0035771[interleukin-4-mediated signaling pathway] GO:0038110[interleukin-2-mediated signaling pathway] GO:0042981[regulation of apoptotic process] GO:0043029[T cell homeostasis] GO:0045087[innate immune response] GO:0045221[negative regulation of FasL production] GO:0045626[negative regulation of T-helper 1 cell differentiation] GO:0046425[regulation of receptor signaling pathway via JAK-STAT] GO:0050868[negative regulation of T cell activation] GO:0060397[growth hormone receptor signaling pathway via JAK-STAT] GO:0070232[regulation of T cell apoptotic process] GO:0070244[negative regulation of thymocyte apoptotic process] GO:0070669[response to interleukin-2] GO:0070670[response to interleukin-4] GO:0070672[response to interleukin-15] GO:0071104[response to interleukin-9]
The Human Protein Atlas project is funded
