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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

JAK1 Gene

protein-coding GIFtS: 72
GCID: GC01M065247

Janus kinase 1

(Previous symbol: JAK1B)

Explore 73 diseases affiliated with
JAK1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Janus Kinase 1¹ ² ³		EC 2.7.10.2³ ⁸
JAK1A¹ ² ³		Tyrosine-Protein Kinase JAK1²
JAK1B¹ ² ³		JAK-1³
JTK3¹ ²		EC 2.7.10⁸

External Ids:	HGNC: 6190¹	Entrez Gene: 3716²	Ensembl: ENSG00000162434⁷	OMIM: 147795⁵	UniProtKB: P23458³

Export aliases for JAK1 gene to outside databases

Previous GC identifers: GC01M064219 GC01M064656 GC01M064670 GC01M064668 GC01M065010 GC01M063407

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JAK1:

Janus kinase 1 (JAK1), is a member of a new class of protein-tyrosine kinases (PTK) characterized by the presence of a

second phosphotransferase-related domain immediately N-terminal to the PTK domain. The second phosphotransferase

domain bears all the hallmarks of a protein kinase, although its structure differs significantly from that of the PTK

and threonine/serine kinase family members. JAK1 is a large, widely expressed membrane-associated phosphoprotein. JAK1

is involved in the interferon-alpha/beta and -gamma signal transduction pathways. The reciprocal interdependence

between JAK1 and TYK2 activities in the interferon-alpha pathway, and between JAK1 and JAK2 in the interferon-gamma

pathway, may reflect a requirement for these kinases in the correct assembly of interferon receptor complexes. These

kinases couple cytokine ligand binding to tyrosine phosphorylation of various known signaling proteins and of a unique

family of transcription factors termed the signal transducers and activators of transcription, or STATs. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458

Function: Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway. Kinase partner

for the interleukin (IL)-2 receptor

Gene Wiki entry for JAK1 (Janus kinase 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the JAK1 gene promoter:
POU2F2 (Oct-2.1) Oct-B1 oct-B3 oct-B2 POU2F2 POU2F2C POU2F1 POU2F1a ZID POU2F2B
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): JAK1 promoter sequence

Search SABiosciences Chromatin IP Primers for JAK1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAK1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32.3-p31.3 Ensembl cytogenetic band: 1p31.3 HGNC cytogenetic band: 1p32.3-p31.3

JAK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAK1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M065247: view genomic region (about GC identifiers)

Start:	65,298,906 bp from pter	End:	65,432,187 bp from pter
Size:	133,282 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458 (See protein sequence)

Recommended Name: Tyrosine-protein kinase JAK1

Size: 1154 amino acids; 133277 Da

Subunit: Interacts with FER (By similarity). Interacts with IL31RA, IFNAR2, JAKMIP1 and SHB

Subcellular location: Endomembrane system; Peripheral membrane protein. Note=Wholly intracellular, possibly membrane

associated

Sequence caution: Sequence=AAA36527.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAA36527.1; Type=Frameshift; Positions=858, 862;

6/9 PDB 3D structures from and Proteopedia for JAK1 (see all 9):

3EYG (3D)

3EYH (3D)

4E4L (3D)

4E4N (3D)

4E5W (3D)

4EHZ (3D)

Secondary accessions: Q59GQ2 Q9UD26

Explore the universe of human proteins at neXtProt for JAK1: NX_P23458

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P23458

4/11 DME Specific Peptides for JAK1 (P23458) (see all 11)

DAHHYLC

RDLAARN

AARNVLV

ECLGMAVL

JAK1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002218.2

ENSEMBL proteins:

ENSP00000343204

Reactome Protein details: P23458
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant JAK1 Protein
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: JAK1 Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for JAK1
	GenScript Custom Purified and Recombinant Proteins Services for JAK1
	Novus Biologicals JAK1 Protein Novus Biologicals JAK1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for JAK1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	10502458
GO:0005737	cytoplasm	IDA	10502458
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	IEA	--
GO:0012505	endomembrane system	IEA	--

JAK1 for ontologies About GeneDecksing

JAK1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of JAK1
	R&D Systems Antibodies for JAK1
	Cell Signaling Technology (CST) Antibodies for JAK1
	OriGene Antibodies (see all 3): JAK1 OriGene Custom Antibody Services for JAK1
	GenScript Superior Antibodies for JAK1
	Novus Biologicals JAK1 Antibodies
	Abcam antibodies for JAK1
	Uscn Antibodies for JAK1
	ThermoFisher Antibodies for JAK1

Assay Products for JAK1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for JAK1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for JAK1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

JAK1 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR019748 FERM_central

IPR017441 Protein_kinase_ATP_BS

IPR020776 Tyr_kinase_non-rcpt_Jak1

IPR001245 Ser-Thr/Tyr_kinase_cat_dom

IPR011009 Kinase-like_dom

Graphical View of Domain Structure for InterPro Entry P23458

ProtoNet protein and cluster: P23458

2 Blocks protein families:

IPB008266 Tyrosine protein kinase

IPB009127 Janus kinase family signature

UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458

Domain: Possesses two phosphotransferase domains. The second one probably contains the catalytic domain (By

similarity), while the presence of slight differences suggest a different role for domain 1

Domain: The FERM domain mediates interaction with JAKMIP1

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily

Similarity: Contains 1 FERM domain

Similarity: Contains 2 protein kinase domains

Similarity: Contains 1 SH2 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458

Function: Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway. Kinase partner

for the interleukin (IL)-2 receptor

Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

Genatlas biochemistry entry for JAK1:

Janus tyrosine kinase 1A,non receptor type,class III,murine FD-22 homolog,widely expressed,involved in signal

transduction of several hematopoietic cytokine receptors,mediating the activation of STAT proteins

Enzyme Numbers (IUBMB): EC 2.7.10.2¹ ² EC 2.7.10²

miRNA Products:		miRTarBase miRNAs that target JAK1: hsa-mir-17 (MIRT000482)

		OriGene 3'-UTR Clone: JAK1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAK1
		8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate JAK1 (see all 41):
		hsa-miR-142-5p hsa-miR-520f hsa-miR-106a hsa-miR-30d hsa-miR-519a hsa-miR-30a hsa-miR-1276 hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: JAK1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for JAK1 (see all 6) OriGene siRNA: JAK1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JAK1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for JAK1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for JAK1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JAK1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: JAK1 (NM_002227)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for JAK1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JAK1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for JAK1
		Search LifeMap BioReagents cell lines for JAK1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAK1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004713	protein tyrosine kinase activity	TAS	--
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	--
GO:0005131	growth hormone receptor binding	ISS	10502458
GO:0005515	protein binding	IPI	7759950
GO:0005524	ATP binding	IEA	--

JAK1 for ontologies About GeneDecksing

5 GenomeRNAi human phenotypes for JAK1:

Decreased p24 protein expressi	Decreased viability in HMC1.1	Increased apoptosis	Increased cell death HMECs cel
Synthetic lethal with Ras

Animal Models:
Mouse knock-out Jak1^tm1Rds for JAK1
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Jak1):

behavior/neurological	cellular	growth/size	hematopoietic system	immune system
mortality/aging

JAK1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/68 super-pathways (see all 68) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

IL-9 Signaling Pathways

8/12 pathways (see all 12)
IL-9 Signaling Pathways	1.00	IL-4 Signaling Pathways	0.80
IL-21 Signaling Pathways	0.90	IL-9 Signaling Pathway	0.42
IL-7 Signaling Pathways	0.90	Immune response_IL-9 signaling pathway	0.42
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways	0.90	Immune response IL-9 signaling pathway	0.42

Interleukin receptor SHC signaling

Interleukin receptor SHC signaling	1.00	SHC1 mediates cytokine-induced phosphorylation of GAB2	0.61
Interleukin-2 signaling	0.67	Interleukin-3, 5 and GM-CSF signaling	0.57
Phosphorylated SHC1 recruits GRB2:GAB2	0.61	Signaling by Interleukins	0.25

Development_CNTF receptor signaling

Development CNTF receptor signaling	1.00	Cell adhesion PLAU signaling	0.35
Development_CNTF receptor signaling	1.00	Immune response_IL-6 signaling pathway	0.30
Cell adhesion_PLAU signaling	0.35	Immune response IL-6 signaling pathway	0.30

Serine phosphorylation of STATs

Serine phosphorylation of STATs	1.00	Interleukin-6 signaling	0.73
JAK activation	0.75	Immune response Oncostatin M signaling via JAK-Stat in human cells	0.29
Phosphorylation of gp130	0.75	Immune response_Oncostatin M signaling via JAK-Stat in human cells	0.29

Development_PDGF signaling via STATs and NF-kB

	Development PDGF signaling via STATs and NF-kB	1.00			Immune response_IL-10 signaling pathway	0.28
	Development_PDGF signaling via STATs and NF-kB	1.00			Immune response IL-10 signaling pathway	0.28

Pathway sources
See GeneCards unified pathways
Show all pathways

5/13 EMD Millipore Pathways for JAK1 (see all 13)

	Cell adhesion PLAU signaling
	Immune response IL-9 signaling pathway
	Immune response IL-4 signaling pathway
	Immune response Oncostatin M signaling via JAK-Stat in human cells
	Immune response IL-2 activation and signaling pathway

5/9 R&D Systems Pathways for JAK1 (see all 9)

	IL-21 Signaling Pathways
	IL-2 Signaling Pathways
	IL-4 Signaling Pathways
	IL-7 Signaling Pathways
	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways

5/22 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for JAK1 (see all 22)

	IL-10 Pathway
	IL-4 Pathway
	Molecular Mechanisms of Cancer
	Interferon Pathway
	PDGF Pathway

1 Cell Signaling Technology (CST) Pathway for JAK1

Jak/Stat Pathway

5/16 GeneGo (Thomson Reuters) Pathways for JAK1 (see all 16)

	Immune response Bacterial infections in normal airways
	Development CNTF receptor signaling
	Development EGFR signaling pathway
	Immune response Oncostatin M signaling via JAK-Stat in human cells
	Immune response IL-9 signaling pathway

5/27 BioSystems Pathways for JAK1 (see all 27)

	Type II interferon signaling (IFNG)
	Oncostatin M Signaling Pathway
	TGF Beta Signaling Pathway
	Integrated Breast Cancer Pathway
	EGFR1 Signaling Pathway

5/21 Reactome Pathways for JAK1 (see all 21)

	Regulation of IFNA signaling
	Antiviral mechanism by IFN-stimulated genes
	Interferon alpha/beta signaling
	Phosphorylated SHC1 recruits GRB2:GAB2
	Serine phosphorylation of STATs

1 PharmGKB Pathway for JAK1

EGFR Inhibitor Pathway, Pharmacodynamics

5/10 Kegg Pathways (Kegg details for JAK1) (see all 10):

	Osteoclast differentiation
	Jak-STAT signaling pathway
	Leishmaniasis
	Toxoplasmosis
	Tuberculosis

JAK1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for JAK1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/216 Interacting proteins for JAK1 (P23458^{2, 3} ENSP00000343204⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 216)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IFNAR2	P48551²^,³, ENSP00000343957⁴	MINT-2729887 MINT-2729859 MINT-2729832 I2D: score=6 STRING: ENSP00000343957
STAM2	O75886²^,³, ENSP00000263904⁴	MINT-49798 MINT-15831 I2D: score=4 STRING: ENSP00000263904
ERBB2	P04626²^,³, ENSP00000269571⁴	MINT-74561 MINT-74560 I2D: score=2 STRING: ENSP00000269571
BRCA1	P38398²^,³, ENSP00000350283⁴	MINT-16582 I2D: score=4 STRING: ENSP00000350283
IL6R	P08887²^,³, ENSP00000357470⁴	MINT-15143 I2D: score=1 STRING: ENSP00000357470

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein phosphorylation	TAS	1848670
GO:0007167	enzyme linked receptor protein signaling pathway	IEA	--
GO:0007243	intracellular protein kinase cascade	IEA	--
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	--
GO:0019221	cytokine-mediated signaling pathway	TAS	--

JAK1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

JAK1 for compounds About GeneDecksing

EMD Millipore small molecules for JAK1:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for JAK1

2 HMDB Compounds for JAK1 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--

2 DrugBank Compounds for JAK1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE	--	--	target	--	10592235
3-{(3R,4R)-4-methyl-3-[methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino]piperidin-1-yl}-3-oxopropanenitrile	--	--	target	--	10592235

10/30 Novoseek chemical compound relationships for JAK1 gene (see all 30) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	84.9	337	8671609 (4), 8041779 (4), 8770944 (4), 7591091 (4) (see all 99)
gp 130	81.8	38	11557047 (4), 12878601 (2), 11742534 (2), 18619543 (2) (see all 25)
ifn-alpha	59.9	8	19014879 (3), 8617715 (1), 12725866 (1), 16623280 (1) (see all 6)
piceatannol	58.7	3	14749471 (1), 18664717 (1), 17264307 (1)
vanadate	50.5	4	10979952 (1), 11278370 (1), 7514165 (1)
phosphatidylinositol	46.3	8	9545305 (2), 9774657 (1), 12738762 (1), 18948751 (1)
15-deoxy-delta-12,14-prostaglandin j2	32.8	3	12584205 (1), 18596134 (1)
sb 203580	30.8	1	17264307 (1)
serine	29.2	10	10488146 (3), 10067896 (1), 19945455 (1), 19014879 (1) (see all 7)
pd 98,059	10.4	1	17264307 (1)

Search CenterWatch for drugs/clinical trials and news about JAK1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for JAK1 gene:

NM_002227.2

Unigene Cluster for JAK1:

Janus kinase 1

Hs.207538 [show with all ESTs]

Unigene Representative Sequence: BX538267

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000342505(uc009wal.1 uc001dbu.1 uc009wam.1) ENST00000481702

ENST00000465376 ENST00000471473 ENST00000494904 ENST00000467764

miRNA Products:		OriGene 3'-UTR Clone: JAK1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAK1
		8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate JAK1 (see all 41):
		hsa-miR-142-5p hsa-miR-520f hsa-miR-106a hsa-miR-30d hsa-miR-519a hsa-miR-30a hsa-miR-1276 hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: JAK1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for JAK1 (see all 6) OriGene siRNA: JAK1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JAK1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for JAK1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JAK1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: JAK1 (NM_002227)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for JAK1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JAK1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for JAK1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat JAK1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JAK1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAK1

Additional cDNA sequence:

AB209057.1 AB219242.1 AK128734.1 AK314257.1 BC009079.1 BC023604.2 BC062431.1 BC111401.1

BC132729.1 BX538267.1 BX647675.1 M64174.1

20 DOTS entries:

DT.75157530 DT.95291845 DT.91775426 DT.121455362 DT.70105449 DT.91775503 DT.91918247 DT.40209011

DT.121455286 DT.40188738 DT.91855259 DT.95194328 DT.95340026 DT.121455277 DT.40219782 DT.91775430

DT.91775479 DT.91775490 DT.91775504 DT.91775363

24/297 AceView cDNA sequences (see all 297):

BM995407 AA257993 AI444994 BM689848 BQ946550 AI423413 AI310372 BM054899

AI280194 BU147514 BU951882 BM708001 AK128375 AI754380 CA412050 AI379957

BQ691853 BI489897 BE328307 BI871075 AA985527 BQ005866 BU630039 CA449243

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for JAK1 (see all 8) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12a	·	12b	·	12c	^	13	^	14	^	15a	·	15b	^	16	^	17	^	18	^	19a	·	19b	·	19c	^
SP1:									-																		-						-				-
SP2:
SP3:																											-						-				-
SP4:																																					-
SP5:																											-

ExUns:	20a	·	20b	^	21	^	22	^	23	^	24	^	25	^	26	^	27a	·	27b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for JAK1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

JAK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTTTAAGAA

About this image

JAK1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Neural Tube

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See JAK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for JAK1

SOURCE GeneReport for Unigene cluster: Hs.207538

UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458

Tissue specificity: Expressed at higher levels in primary colon tumors than in normal colon tissue. The expression

level in metastatic colon tumors is comparable to the expression level in normal colon tissue

SABiosciences Expression via Pathway-Focused PCR Arrays including JAK1 (see all 8):

Multiple Sclerosis in human mouse rat

JAK / STAT Signaling Pathway in human mouse rat

Th17 Response in human mouse rat

Th1/Th2 Response in human mouse rat

EGF / PDGF Signaling Pathway in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for JAK1 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	JAK1¹	Janus kinase 1	75.55(n) 81.87(a)		395681 NM_204870.1 NP_990201.1
lizard (Anolis carolinensis)	Reptilia	JAK1⁶	--	78(a)	1 ↔ 1	4(98463381-98508127)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.19081²	Transcribed sequence with weak similarity to protein more	77.33(n)		BX737705.1
zebrafish (Danio rerio)	Actinopterygii	jak1²	Janus kinase 1	76.34(n)		30280 BC047165.1
fruit fly (Drosophila melanogaster)	Insecta	hop⁶	hopscotch	21(a)	1 → many	X(11254932-11262130)

ENSEMBL Gene Tree for JAK1 (if available)
TreeFam Gene Tree for JAK1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for JAK1 gene

SYK² TNK1² JAK2² JAK3² TNK2² TYK2² ERBB4² ERBB3²

PTK2² ERBB2² ZAP70² PTK2B² EGFR²

13 SIMAP similar genes for JAK1 using alignment to 5 protein entries: JAK1_HUMAN (see all proteins):

SRC JAK2 TYK2 DKFZp564L2416 EPHA2 FES

ABL1 DKFZp434L0319 JAK3 FGFR2 FGR DKFZp686M05208

ERBB4

JAK1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79913837^1,2	C,F,	--	63407457(+)	`AGTCAC/AANNNN`	1	--	ds500¹		1		WA	118
rs199581585^1,2	C	--	63407688(+)	`GTGTTG/TGTTTG`	1	--	ds500¹		0	--	--	--	--
rs9128^1,2	C,F,H,	--	63407880(-)	`AACCTG/ATGGCC`	1	--	ut3¹ ese³		7		MN NS NA	786
rs17127009^1,2	C,F,H,	--	63407972(+)	`TGGGCT/GCAACA`	1	--	ut3¹		7		NA NS EA	562
rs114988727^1,2	C,F,	--	63408055(+)	`ACCGTA/GATCGT`	1	--	ut3¹		1		WA	118
rs12564365^1,2	C,F,H,	--	63409535(+)	`CAGTTC/AAGACT`	1	--	int¹		5		NS NA	248
rs74080739^1,2	C,F,	--	63409664(+)	`AATAAG/CTGGGA`	1	--	int¹		3		WA CSA	122
rs6691298^1,2	C,H,	--	63410897(+)	`CTCTTC/TGGTTT`	1	--	int¹		6		NS EA CSA WA	514
rs61784687^1,2		--	63411305(+)	`CACTTC/ATCTCA`	1	--	int¹		1		NA	2
rs72675438^1,2	F,	--	63411352(+)	`CATGCT/CGTCAC`	1	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for JAK1 (65298906 - 65432187 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for JAK1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing JAK1

DNA2.0 Custom Variant and Variant Library Synthesis for JAK1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

JAK1 for disorders           About GeneDecksing

OMIM gene information: 147795    OMIM disorders: --

20/73 diseases for JAK1 (see all 73):    About MalaCards

severe combined immunodeficiency polycythemia vera dengue hemorrhagic fever combined immunodeficiency

hemorrhagic fever primary effusion lymphoma burkitt's lymphoma polycythemia

hepatitis c lymphoblastic leukemia myeloid leukemia inflammatory bowel disease

adult t-cell leukemia acute lymphoblastic leukemia rheumatoid arthritis chronic lymphocytic leukemia

leukemia acute myeloid leukemia chronic myeloid leukemia lymphocytic leukemia

4 diseases from the University of Copenhagen DISEASES database for JAK1:

Myelofibrosis Polycythemia vera Leukemia Thrombocytosis

10/26 Novoseek disease relationships for JAK1 gene (see all 26) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
polycythemia vera	51.1	1	16239216 (1)
fibrosarcoma	49.1	12	9305869 (2), 9013940 (2), 12589807 (2), 7537214 (1) (see all 8)
leukemia	46.4	5	18559588 (1), 16193102 (1), 19620279 (1)
severe combined immunodeficiency, x-linked	44	1	7973658 (1)
myeloma	19.5	3	11986233 (1), 20072651 (1), 17158029 (1)
somatic mutations	17.5	4	18160671 (2), 18559588 (1), 18362173 (1)
lymphoblastic leukemia acute	16.3	3	18362173 (1), 19139102 (1), 20167706 (1)
tumors	16.2	9	9703883 (2), 20368117 (2), 20442315 (1), 18320073 (1) (see all 6)
autoimmune diseases	5.61	1	16239216 (1)
prostate cancer	5.11	7	14749471 (2), 16102578 (2), 17234809 (1), 17826679 (1) (see all 5)

Genetic Association Database (GAD): JAK1
Human Genome Epidemiology (HuGE) Navigator: JAK1 (29 documents)

Export disorders for JAK1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for JAK1 gene, integrated from 9 sources (see all 617):
(articles sorted by number of sources associating them with JAK1)

Utopia: connect your pdf to the dynamic
world of online information

Two novel protein-tyrosine kinases, each with a second phosphotransferase-related catalytic domain, define a new class of protein kinase. (PubMed id 1848670)^{1, 2, 3, 9} Wilks A.F....Ziemiecki A. (1991)
Jamip1 (marlin-1) defines a family of proteins interacting with Janus kinases and microtubules. (PubMed id 15277531)^{1, 2, 9} Steindler C....Pellegrini S. (2004)
Characterization of the signaling capacities of the novel gp130-like cytokine receptor. (PubMed id 15194700)^{1, 2, 9} Dreuw A....Hermanns H.M. (2004)
Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study. (PubMed id 12447867)^{1, 4} King J.K....Chen P.J. (2002)
IL-2 receptor signaling through the Shb adapter protein in T and NK cells. (PubMed id 12200137)^{1, 2} Lindholm C.K. (2002)
Confirmed assignment of a novel human tyrosine kinase gene (JAK1A) to 1p32.3-->p31.3 by nonisotopic in situ hybridization. (PubMed id 7698020)^{1, 3} Modi W.S....Howard O.M. (1995)
Soluble and membrane-anchored forms of the human IFN-alpha/beta receptor. (PubMed id 7759950)^{1, 2} Novick D.... Rubinstein M. (1995)
A survey of protein tyrosine kinase mRNAs expressed in normal human melanocytes. (PubMed id 8247543)^{1, 2} Lee S.-T.... Spritz R.A. (1993)
Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. (PubMed id 18559588)^{1, 9} Jeong E.G....Lee S.H. (2008)
Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. (PubMed id 19139102)^{1, 9} Hornakova T....Renauld J.C. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3716	HGNC: 6190	AceView: JAK1	Ensembl:ENSG00000162434	euGenes: HUgn3716
ECgene: JAK1	Kegg: 3716	H-InvDB: JAK1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for JAK1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for JAK1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for JAK1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for JAK1 gene:
Search GeneIP for patents involving JAK1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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Janus kinase 1

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