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JAK1 Gene

protein-coding GIFtS: 72

GC01M065010

Janus kinase 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: JAK1B)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
EC 2.7.10.2 ^³
JAK-1 ^³
JAK1A ^¹, ², ³
JAK1B ^², ³
JTK3 ^¹, ²
OTTHUMP00000010896 ^²

Descriptions
Janus kinase 1 ^², ³
Janus kinase 1 (a protein tyrosine kinase) ^²

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

Search outside databases for aliases for JAK1 gene

Previous GC identifers: GC01M065247 GC01M064219 GC01M064656 GC01M064670 GC01M064668

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the JAK1 gene

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)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M065010: (about GC identifiers)

Start:	65,071,494 bp from pter
End:	65,204,775 bp from pter
Size:	133,282 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000001.9 NT_032977.8

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: JAK1_HUMAN, P23458 (See protein sequence)

Recommended Name: Tyrosine-protein kinase JAK1

Size: 1154 amino acids; 133277 Da

Subunit: Interacts with IL31RA, 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;

PDB structure from and Proteopedia :

3EYG (3D)

3EYH (3D)

Secondary accessions: Q59GQ2 Q9UD26

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_002218.2

ENSEMBL proteins:

ENSP00000343204

Human Recombinant Proteins

	Invitrogen human recombinant proteins for JAK1
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (JAK/STAT, JAK1)
	Human Recombinant Proteins from Abnova (JAK1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	10502458
GO:0005737	cytoplasm	IDA	10502458
GO:0005856	cytoskeleton	IEA	--
GO:0012505	endomembrane system	IEA	--
GO:0016020	membrane	IEA	--

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Antibodies for JAK1:

	Invitrogen Antibodies for JAK1
	Millipore Mono- and Polyclonal Antibodies for the study of JAK1
	Sigma-Aldrich Antibody Arrays and Antibodies for JAK1
	R&D Systems Antibodies for JAK1
	Cell Signaling Technology (CST) Antibodies for JAK1
	Antibodies from Abcam (JAK/STAT, JAK1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (JAK1)
	Novus Biologicals Antibodies for JAK1

Assays for JAK1:

	Invitrogen Assays for JAK1
	Millipore Kits and Assays for the Analysis of JAK1
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 1 protein kinase domain

Similarity: Contains 1 SH2 domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JAK1)
		Millipore RNAi Products for the Analysis of JAK1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (JAK1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002227

Applied Biosystems Silencer® siRNAs for JAK1

Sigma-Aldrich siRNA and siRNA Panels for JAK1

Sigma-Aldrich shRNA Panels and shRNA for JAK1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_002227
Myc/DDK tagged cDNA clone in CMV expression vector: NM_002227
untagged cDNA clones in CMV expression vector (see all 2): NM_002227

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_002227

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

Enzyme Number (IUBMB): EC 2.7.10.2

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

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Jak1):

behavior/neurological

growth/size

hematopoietic system

immune system

lethality-prenatal/perinatal

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	--
GO:0004718	Janus kinase activity	IEA	--
GO:0005131	growth hormone receptor binding	IEA	--
GO:0005515	protein binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/21 Sigma-Aldrich "Your Favorite Gene" Pathways for JAK1 (Your Favorite Gene powered by Ingenuity) (see all 21 )

IL-3 Signaling
IL-17 Signaling
IL-22 Signaling
Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
JAK/Stat Signaling

GeneDecks JAK1 for the pathways selected above

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

5/6 Interacting proteins for JAK1 (P23458²) via UniProtKB, MINT, and/or STRING (see all 6 )
Interactant Interaction Details
GeneCard External ID(s)
IFNAR2 P48551² MINT-2729887 MINT-2729859 MINT-2729832
ERBB2 P04626² MINT-74561 MINT-74560
STAM2 O75886² MINT-49798 MINT-15831
BRCA1 P38398² MINT-16582
IL6R P08887² MINT-15143
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5 Gene Ontology (GO) biological process terms (links to tree view):
GO ID Qualified GO term Evidence PubMed IDs
GO:0007167 enzyme linked receptor protein signaling pathway IEA --
GO:0007243 protein kinase cascade IEA --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0046677 response to antibiotic IDA 16280321
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for JAK1

Browse Small Molecules at Sigma-Aldrich

Compounds for JAK1 available from Tocris Bioscience
10/16 Novoseek chemical compound relationships for JAK1 gene (see all 16 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	85.18	330	8671609 (4), 8041779 (4), 7591091 (4), 8770944 (4) (see all 99)
gp 130	81.94	36	11557047 (4), 12878601 (2), 11742534 (2), 18619543 (2) (see all 23)
ifn-alpha	61.66	8	19014879 (3), 8617715 (1), 12725866 (1), 16623280 (1) (see all 6)
piceatannol	60.49	3	14749471 (1), 18664717 (1), 17264307 (1)
vanadate	51.58	4	10979952 (1), 11278370 (1), 7514165 (1)
phosphatidylinositol	46.73	8	9545305 (2), 9774657 (1), 12738762 (1), 18948751 (1)
pd 98,059	12.62	1	17264307 (1)
phenylalanine	7.29	1	11742534 (1)
ethanol	4.77	1	16324217 (1)
lipid	2.53	1	16544577 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JAK1)
		Millipore RNAi Products for the Analysis of JAK1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (JAK1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002227

Sigma-Aldrich siRNA and siRNA Panels for JAK1

Sigma-Aldrich shRNA Panels and shRNA for JAK1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_002227

REFSEQ mRNAs for JAK1 gene:

NM_002227.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_002227

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002227
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_002227
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_002227

Additional cDNA sequence:

AB209057.1 AB219242.1 AK126239.1 AK128734.1 AK314257.1 BC009079.1 BC023604.2 BC035370.1

BC062431.1 BC111401.1 BC132729.1 BX538267.1 BX647675.1 M64174.1

23 DOTS entries:

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

DT.95361854 DT.101965155 DT.40188738 DT.95194328 DT.91855259 DT.95340026 DT.121455277 DT.121455283

DT.121455286 DT.40219782 DT.91775430 DT.91775479 DT.91775490 DT.91775363 DT.91775504

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

AA448853 AW504991 AI444994 BQ005866 AI310372 CA412050 BG166855 BF445843

AA828367 BE328307 BQ691590 CB306080 AA768569 BG122973 AA362097 BE048894

AI280194 AI767465 CK429312 BM457723 AA447915 BM456164 CA429795 BC023604

highest scoring ESTs for JAK1:

M64174 AA282704 AA648846 AA737063 AI097220 AI223335 AI277104 AI286153 AI379957 AI695512

Unigene Cluster for JAK1:

Janus kinase 1 (a protein tyrosine kinase)

Hs.207538 [show with all ESTs]

Unigene Representative Sequence: BX538267

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for JAK1

1 Ensembl transcript including schematic representation:

ENST00000342505

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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JAK1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for JAK1

¹ / ² / ³

12 probe-sets matching JAK1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
34877_at²^{, 3}	U95-A	1	1.00	1.00	0.91	1.49	AL039831	0.60	0.62	0.61	1
82666_at²^{, 3}	U95-E	1	1.00	1.00	0.70	0.56	AI280194	0.40	0.75	0.60	1
41594_at²^{, 3}	U95-A	1	1.00	1.00	0.88	1.08	M64174	1.00	0.90	0.95	1
1457_at²^{, 3}	U95-A	1	1.00	1.00	0.76	0.89	M64174	1.00	0.90	0.95	1
239695_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI280194	0.40	0.75	0.60	1
201648_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AL039831	0.60	0.62	0.61	1
240613_at²^{, 3}	U133-B	1	0.36	1.00	--	--	AW070459	0.40	0.75	0.60	1
1552611_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
239695_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1552610_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201648_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
240613_at²	U133Plus2	1	0.36	1.00	--	--	--	--	--	--	--

GeneDecks JAK1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CTTTTAAGAA

SOURCE GeneReport for Unigene cluster: Hs.207538
Expression variation in blood from EXPOLDB for JAK1
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for JAK1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	JAK1¹	--	Janus kinase 1 (a protein tyrosine kinase)	92.08(n) 97.75(a)	442952 XM_860095.1 XP_865188.1
chimpanzee (Pan troglodytes)	JAK1¹	--	Janus kinase 1 (a protein tyrosine kinase)	99.68(n) 99.91(a)	743373 XM_001161205.1 XP_001161205.1
rat (Rattus norvegicus)	Jak1¹	--	Janus kinase 1	89.29(n) 95.2(a)	84598 XM_342872.3 XP_342873.3
mouse (Mus musculus)	Jak1^{1, 5}	4 (46.30 cM)⁵	Janus kinase 1^{1, 5}	89.5(n)¹ 95.05(a)¹	16451¹ NM_146145.2¹ NP_666257.2¹ AA066354⁵ AA960307⁵ (see all 37)
chicken (Gallus gallus)	JAK1¹	--	Janus kinase 1 (a protein tyrosine kinase)	75.55(n) 81.87(a)	395681 NM_204870.1 NP_990201.1

About this table Species with no ortholog for JAK1

ENSEMBL Gene Tree for JAK1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for JAK1 gene

JAK3² JAK2² TYK2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/882 NCBI SNPs in JAK1 are shown (see all 882 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 178)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs10889513^1,2	A,C,F,H	65206628(+)	`GGCAAG/ATAACA`	1	--	ng3¹		4		EU EA WA	416
--	rs11582202^1,2	C	65205012(+)	`CCACTA/CGTCTC`	1	--	ng3¹		0	--	--	--	--
	rs2230587^1,2	C,F,H,O	65083850(-)	`AAAAGC/TGATGT`	1	S/S	syn¹		19		MN EA NA CSAM EU WA	2976
	rs11585932^1,2	A,C,F,H	65107683(+)	`TCATGT/CCCATC`	1	G/G	syn¹ ese³		15		NA EU EA WA	1392
	rs12129819^1,2	C,F,H	65076247(+)	`TACTCC/TTTATC`	1	K/K	syn¹		8		NA EU EA WA	640
	rs3737139^1,2	C,F,H	65083802(-)	`CTGGCC/GAGTGC`	1	A/A	syn¹ ese³		10		EA MN CSAM EU WA	2298
	rs17127063^1,2	C,F,H	65084930(+)	`ACGTCG/ACGGAC`	1	R/R	syn¹ ese³		8		NA EU EA WA	630
	rs17127025^1,2	C,F,H	65076235(+)	`TTGACG/AGTGTA`	1	T/T	syn¹ ese³		8		NA EU EA WA	636
	rs2230588^1,2	C,F	65083077(-)	`GGCCCA/GTTCAT`	1	P/P	syn¹		6		MN EA NA	336
--	rs2230586^1,2	F,O	65093838(-)	`CAGATC/TCTGCG`	1	I/I	syn¹ ese³		4		MN NA	186

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HapMap Linkage Disequilibrium images for JAK1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 147795

10/22 Novoseek disease relationships for JAK1 gene (see all 22 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrosarcoma	50.62	12	9305869 (2), 9013940 (2), 12589807 (2), 7537214 (1) (see all 8)
leukemia	46.04	4	18559588 (1), 16193102 (1)
severe combined immunodeficiency, x-linked	45.41	1	7973658 (1)
polycythemia vera	37.15	1	16239216 (1)
somatic mutations	19.53	4	18160671 (2), 18559588 (1), 18362173 (1)
myeloma	16.42	2	11986233 (1), 17158029 (1)
lymphoblastic leukemia acute	13.32	2	18362173 (1), 19139102 (1)
prostate cancer	8.24	7	14749471 (2), 16102578 (2), 17234809 (1), 17826679 (1) (see all 5)
tumors	6.72	5	9703883 (2), 18320073 (1), 8514334 (1), 17121792 (1)
hepatitis c chronic	0.05	1	16623280 (1)

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2 PharmGKB disease relationships for JAK1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Asthma	FA	12003786
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

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Genetic Association Database: JAK1
Human Genome Epidemiology Navigator: JAK1 (10 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/472 PubMed articles for JAK1 gene (see all 472 ):

Two novel protein-tyrosine kinases, each with a second phosphotransferase-related catalytic domain, define a new class of protein kinase. (PubMed id 1848670)^{2, 3, 4} Wilks A.F....Ziemiecki A. (1991)
Jamip1 (marlin-1) defines a family of proteins interacting with Janus kinases and microtubules. (PubMed id 15277531)^{1, 3, 4} Steindler C....Pellegrini S. (2004)
Characterization of the signaling capacities of the novel gp130-like cytokine receptor. (PubMed id 15194700)^{1, 3, 4} 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)^{3, 6} King J.K....Chen P.J. (2002)
IL-2 receptor signaling through the Shb adapter protein in T and NK cells. (PubMed id 12200137)^{3, 4} 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)^{2, 3} Modi W.S....Howard O.M. (1995)
A survey of protein tyrosine kinase mRNAs expressed in normal human melanocytes. (PubMed id 8247543)^{3, 4} Lee S.-T.... Spritz R.A. (1993)
Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. (PubMed id 18559588)^{1, 3} 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, 3} Hornakova T....Renauld J.C. (2009)
Triterpenoid CDDO-methyl ester inhibits the Janus-activated kinase-1 (JAK1)-->signal transducer and activator of transcription-3 (STAT3) pathway by direct inhibition of JAK1 and STAT3. (PubMed id 18413761)^{1, 3} Ahmad R....Kufe D. (2008)

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

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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ATLAS Chromosomes in Cancer entry for JAK1	Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies for JAK1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for JAK1:

TaqMan ® Gene Expression Assays

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Antibodies for JAK1

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JAK1 Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for JAK1

Summaries
for JAK1

Genomic Location
for JAK1

Proteins
for JAK1

Protein Domains/
Families
for JAK1

Gene Function
for JAK1

Pathways & Interactions
for JAK1

Drugs & Compounds
for JAK1

Transcripts
for JAK1

Expression
for JAK1

Orthologs
for JAK1

Paralogs
for JAK1

SNPs/Variants
for JAK1

Disorders & Mutations
for JAK1

Medical News
for JAK1

Publications
for JAK1

Search for JAK1

Genome Databases showing JAK1

Other Databases showing JAK1

Specialized Databases showing JAK1

Licensable Technologies
for JAK1

Services
for JAK1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

JAK1 Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor JAK1

Summariesfor JAK1

Genomic Locationfor JAK1

Proteinsfor JAK1

Protein Domains/Familiesfor JAK1

Gene Functionfor JAK1

Pathways & Interactionsfor JAK1

Drugs & Compoundsfor JAK1

Transcriptsfor JAK1

Expression for JAK1

Orthologsfor JAK1

Paralogsfor JAK1

SNPs/Variantsfor JAK1

Disorders & Mutationsfor JAK1

Medical Newsfor JAK1

Publicationsfor JAK1

Search for JAK1

Genome Databases showing JAK1

Other Databases showing JAK1

Specialized Databases showing JAK1

Licensable Technologiesfor JAK1

Servicesfor JAK1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for JAK1

Summaries
for JAK1

Genomic Location
for JAK1

Proteins
for JAK1

Protein Domains/
Families
for JAK1

Gene Function
for JAK1

Pathways & Interactions
for JAK1

Drugs & Compounds
for JAK1

Transcripts
for JAK1

Expression
for JAK1

Orthologs
for JAK1

Paralogs
for JAK1

SNPs/Variants
for JAK1

Disorders & Mutations
for JAK1

Medical News
for JAK1

Publications
for JAK1

Licensable Technologies
for JAK1

Services
for JAK1