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FLASH GENE

Symbol

JAK1

contributors: mct/npt/pgu - updated : 03-06-2020

HGNC name	Janus kinase 1
HGNC id	6190

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p31.3      Physical location : 65.298.905 - 65.432.187
Synonym name	Janus kinase 1 (a protein tyrosine kinase)
Synonym symbol(s)	JAK1A, JAK1B, JTK3, JAK-1, JAK1AB
EC.number	2.7.1.112, 2.7.10.1

DNA

TYPE	functioning gene
STRUCTURE	234.52 kb     25 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002227 25 - 5053 NP_002218 - 1154 - 2018 30463015 NM_001321853 27 - 5277 NP_001308782 - 1152 - 2018 30463015 NM_001321854 26 - 5193 NP_001308783 - 1154 - 2018 30463015 NM_001321852 25 - 5018 NP_001308781 - 1154 - 2018 30463015 NM_001320923 26 - 5021 NP_001307852 - 1154 - 2018 30463015 NM_001321856 25 - 4937 NP_001308785 - 1154 - 2018 30463015 NM_001321855 26 - 5176 NP_001308784 - 1154 - 2018 30463015 NM_001321857 25 - 5089 NP_001308786 - 1153 - 2018 30463015

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid       highly Lymphoid/Immune lymph node       highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminus region (JH6, JH7) critical for receptor binding and signal transduction
	a FERM domain
	a protein kinase domain
	a SH2 domain
	a conserved JAK binding site for receptor peptides
	a C terminal kinase domain, JH1, lacking SH2 or SH3 motif, JH2, a pseudokinase domain tandemly linked to the N site of the former and five more JAK homology domain (JH)

HOMOLOGY

interspecies

homolog to murine Fd-22

intraspecies	paralog to JAK2
	paralog to JAK3

Homologene

FAMILY	protein kinase superfamily
	Tyr protein kinase family
	JAK subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus
text	possibly membrane anchored

basic FUNCTION	tyrosine kinase, non receptor type, class III, involved in signal transduction of several hematopoietic cytokine receptors
	playing a dual role with STAT1 and STAT3 in myogenic differentiation, participating in myoblast proliferation and actively repressing differentiation
	ROCK1 and JAK1 signaling cooperate to control actomyosin contractility in tumor cells and stroma
	nuclear import of JAK1 is essential for the optimal fitness of activated B-cell-like diffuse large B-cell lymphoma (ABC DLBCL) cells
	is a critical effector of pro-inflammatory cytokine signaling and plays important roles in immune function, while abnormal JAK1 activity has been linked to immunological and neoplastic diseases
	essential role for JAK1 in hematopoietic stem cells (HSCs) homeostasis and stress responses
	JAK1 is a key factor involved in the regulation of primordial follicle activation and maintenance of the ovarian reserve

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

interferon alpha-beta-gamma signal transduction

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	mediating activation of STAT proteins (STAT5)
	associating with gamma chain of cytokine receptors
	binding and inhibited by SOCS1
	cooperation between PTPN2 deletion and activating JAK1 gene mutations in T-cell acute lymphoblastic leukemia
	TJP2 associates with JAK1 in vascular smooth muscle cells via TJP2 N-terminal fragment, and JAK1 serves for tyrosine phosphorylation of TJP2 in VSMC
	NK cell activation and secretion of IFNG1 results in activation of JAK1, JAK2 and STAT1 in tumor cells, resulting in rapid up-regulation of CD274 expression
	CISH interacted with the tyrosine kinase JAK1, inhibiting its enzymatic activity and targeting JAK for proteasomal degradation (
	SOCS1 negatively regulates IFNG1 signaling pathway (and other pathways) by directly inhibiting JAK1, JAK2
	CLDN10 enhanced the metastatic phenotype of osteosarcoma (OS) cells via the activation of the JAK1/STAT1 signaling pathway

cell & other

REGULATION

activated by

cytokine receptors gamma chain

Other

regulated by phosphorylation of tyrosine residues in the putative activation loops of the kinase domain

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in pediatric acute lymphoblastic leukemia tumoral somatic mutation       may contribute to the tumor development in liver cancer tumoral     --low   in breast invasive carcinoma compared with adjacent normal tissues constitutional       loss of function loss of JAK1 in NK cells drives innate immune deficiency tumoral somatic mutation       recurrent JAK1 truncating mutations that could contribute to tumor immune evasion in gynecologic cancers, especially in endometrial cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   inhibition of JAK signaling is a logical target for therapeutic intervention in JAK mutated ALL cancer skin   JAK1 is a potential therapeutic target for melanoma treatment

ANIMAL & CELL MODELS