JAK1基因详情-基因数据库-基因云馆

JAK1 (Janus kinase 1)

symbol:: JAK1
locus group:: protein-coding gene
location:: 1p31.3
gene_family:
alias symbol:: JAK1A|JTK3
alias name:: None
entrez id:: 3716
ensembl gene id:: ENSG00000162434
ucsc gene id:: uc001dbu.2
refseq accession:: NM_002227
hgnc_id:: HGNC:6190
approved reserved:: 1992-04-16

1p31.3

JAK1（Janus激酶1）属于JAK激酶家族，该家族包括JAK1、JAK2、JAK3和TYK2，是一类非受体型酪氨酸激酶，在细胞因子信号转导中起核心作用。JAK家族成员的共性是它们通过JAK-STAT信号通路传递细胞外信号，调控免疫反应、造血功能、炎症和细胞生长等生理过程。JAK1主要与多种细胞因子受体（如干扰素受体、白介素受体）结合，当细胞因子与受体结合后，JAK1被激活并磷酸化STAT蛋白，促使STAT二聚化并进入细胞核内调节靶基因表达。JAK1在免疫系统中尤为重要，参与干扰素信号传导，对抗病毒感染和调节炎症反应至关重要。JAK1突变可能导致功能异常，例如功能获得性突变与某些白血病和自身免疫疾病相关，而功能丧失性突变可能导致免疫缺陷。JAK1的过度激活与类风湿性关节炎、炎症性肠病等自身免疫疾病有关，因其促进炎症因子产生；而JAK1表达降低可能削弱免疫应答，增加感染风险。JAK抑制剂（如tofacitinib）通过靶向JAK1等激酶治疗自身免疫病，但可能因抑制过度而引发感染风险。此外，JAK1与其他JAK家族成员（如JAK2）协作或竞争，共同调节信号通路的平衡。例如，JAK1与JAK3共同参与γ链细胞因子信号传导，而JAK1缺失可能影响依赖该通路的T细胞发育。研究JAK1有助于理解免疫调控机制并开发相关疾病的靶向疗法。

中文English

Janus激酶1（JAK1），是一类新的特征在于第二磷酸相关的域紧接N末端到PTK域的存在下蛋白质 - 酪氨酸激酶（PTK）的成员。第二磷酸域带有蛋白激酶的所有特征，但它的结构从该PTK和苏氨酸/丝氨酸激酶家族成员的显著不同。 JAK1是一个大的，广泛表达的膜相关磷。 JAK1参与了干扰素α/β和-gamma信号转导通路。在α-干扰素途径JAK1和TYK2活动之间的相互依存，和JAK1和JAK2中的干扰素-γ通路之间，可能反映了在干扰素受体复合物的正确组装这些激酶的一个要求。这些激酶的夫妇的细胞因子配体结合到各种已知的信号蛋白的酪氨酸磷酸化和转录因子的独特家族的称为信号转导和转录激活剂或统计资料。 [由RefSeq的，2008年7月提供]

OMIM数据库中对JAK1基因的介绍 Wikipedia数据库中对JAK1基因的介绍

JAK1基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF
41YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL
81
YDENTKLWY APNRTITVDD KMSLRLHYRM RFYFTNWHGT
121NDNEQSVWRH SPKKQKNGYE KKKIPDATPL LDASSLEYLF
161A
QGQYDLVK CLAPIRDPKT EQDGHDIENE CLGMAVLAIS
201HYAMMKKMQL PELPKDISYK RYIPETLNKS IRQRNLLTRM
241RI
NNVFKDF LKEFNNKTIC DSSVSTHDLK VKYLATLETL
281TKHYGAEIFE TSMLLISSEN EMNWFHSNDG GNVLYYEVMV
321TGN
LGIQWR HKPNVVSVEK EKNKLKRKKL ENKHKKDEEK
361NKIREEWNNF SYFPEITHIV IKESVVSINK QDNKKMELKL
401SSHE
EALSF VSLVDGYFRL TADAHHYLCT DVAPPLIVHN
441IQNGCHGPIC TEYAINKLRQ EGSEEGMYVL RWSCTDFDNI
481LMTVT
CFEK SEQVQGAQKQ FKNFQIEVQK GRYSLHGSDR
521SFPSLGDLMS HLKKQILRTD NISFMLKRCC QPKPREISNL
561LVATKK
AQE WQPVYPMSQL SFDRILKKDL VQGEHLGRGT
601RTHIYSGTLM DYKDDEGTSE EKKIKVILKV LDPSHRDISL
641AFFEAAS
MM RQVSHKHIVY LYGVCVRDVE NIMVEEFVEG
681GPLDLFMHRK SDVLTTPWKF KVAKQLASAL SYLEDKDLVH
721GNVCTKNL
L LAREGIDSEC GPFIKLSDPG IPITVLSRQE
761CIERIPWIAP ECVEDSKNLS VAADKWSFGT TLWEICYNGE
801IPLKDKTLI
 EKERFYESRC RPVTPSCKEL ADLMTRCMNY
841DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF
881EKRFLKRIRD 
LGEGHFGKV ELCRYDPEGD NTGEQVAVKS
921LKPESGGNHI ADLKKEIEIL RNLYHENIVK YKGICTEDGG
961NGIKLIMEFL P
SGSLKEYL PKNKNKINLK QQLKYAVQIC
1001KGMDYLGSRQ YVHRDLAARN VLVESEHQVK IGDFGLTKAI
1041ETDKEYYTVK DD
RDSPVFW YAPECLMQSK FYIASDVWSF
1081GVTLHELLTY CDSDSSPMAL FLKMIGPTHG QMTVTRLVNT
1121LKEGKRLPCP PNC
PDEVYQ LMRKCWEFQP SNRTSFQNLI
1161EGFEALLK

结构预测来自 AlphaFold DB（UniProt: P23458），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

JAK1基因的碱基突变：仅显示部分snp

rs9128 rs14802 rs167454 rs172659 rs182574 rs184305 rs186334 rs188698 rs191096 rs191097 rs191098 rs219024 rs219025 rs310196 rs310197 rs310198 rs310199

JAK1基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

TGATGAGACAGGTCTCCCA

CTTCCACCATGATATTCTCCAC

AAGACGCTGATTGAGAAAGAG

GGTCATAGTTCATGCAGCG

TGATGAGACAGGTCTCCCA

CTTCCACCATGATATTCTCCAC

ATGAGCCTTTGTTCCAGTG

ATACTCAGACAGCATCAGGC

GAAATCGAGATCTTAAGGAACCTC

ACCATTTCCTCCGTCTTCTG

GGTCAGCATTAACAAGCAGG

AGGGACACAAAGGACAAGG

CGGTATGTTATGCAAGGCTG

TTTATGACCCTAGACAGTCACC

GATGACAAGATGTCCCTCC

GTGTAGCTTCTCCACTGGA

ATGATGAGACAGGTCTCCC

TTCCACCATGATATTCTCCAC

GATGAGCCTTTGTTCCAGTG

TACTCAGACAGCATCAGGC

转录因子

影响基因

影响类型

参考文献链接（PubMed）

BRCA1

JAK1

Unknown

11163768

JAK1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

质膜
细胞质
细胞外
高尔基体
囊泡
细胞骨架
内质网
细胞核
内体
溶酶体
线粒体

JAK1基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0000165

P23458 (UniProtKB)

TAS

GO:0004713

P23458 (UniProtKB)

EXP

GO:0004713

P23458 (UniProtKB)

EXP

GO:0004713

P23458 (UniProtKB)

EXP

GO:0004713

P23458 (UniProtKB)

TAS

GO:0004713

P23458 (UniProtKB)

TAS

GO:0004715

P23458 (UniProtKB)

IBA

GO:0004715

P23458 (UniProtKB)

TAS

GO:0004715

P23458 (UniProtKB)

TAS

GO:0005088

P23458 (UniProtKB)

TAS

GO:0005102

P23458 (UniProtKB)

IBA

GO:0005131

P23458 (UniProtKB)

ISS

GO:0005515

P23458 (UniProtKB)

IPI

GO:0005515

P23458 (UniProtKB)

IPI

GO:0005515

P23458 (UniProtKB)

IPI

GO:0005524

P23458 (UniProtKB)

IEA

GO:0005634

P23458 (UniProtKB)

IDA

GO:0005737

P23458 (UniProtKB)

IDA

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005829

P23458 (UniProtKB)

TAS

GO:0005856

P23458 (UniProtKB)

IEA

GO:0005925

P23458 (UniProtKB)

IDA

GO:0006468

P23458 (UniProtKB)

TAS

GO:0007169

P23458 (UniProtKB)

IBA

GO:0012505

P23458 (UniProtKB)

IEA

GO:0016477

P23458 (UniProtKB)

IBA

GO:0019903

P23458 (UniProtKB)

IPI

GO:0030154

P23458 (UniProtKB)

IBA

GO:0031234

P23458 (UniProtKB)

IBA

GO:0031625

P23458 (UniProtKB)

IPI

GO:0031730

P23458 (UniProtKB)

IEA

GO:0035556

P23458 (UniProtKB)

TAS

GO:0038083

P23458 (UniProtKB)

IBA

GO:0038110

P23458 (UniProtKB)

IDA

GO:0042127

P23458 (UniProtKB)

IBA

GO:0043547

P23458 (UniProtKB)

IEA

GO:0045087

P23458 (UniProtKB)

IBA

GO:0046677

P23458 (UniProtKB)

IDA

GO:0046872

P23458 (UniProtKB)

IEA

GO:0060333

P23458 (UniProtKB)

TAS

GO:0060334

P23458 (UniProtKB)

TAS

GO:0060337

P23458 (UniProtKB)

TAS

GO:0060338

P23458 (UniProtKB)

TAS

GO:1903672

P23458 (UniProtKB)

IGI

可能调控 JAK1基因的相关microRNA：

hsa-miR-106b hsa-miR-128 hsa-mir-17-19b-1 hsa-miR-221 hsa-miR-221* hsa-miR-222 hsa-miR-222* hsa-miR-34b hsa-miR-34b* hsa-miR-17

String

BioGrid

IntAct

mentha

MINT

Reactome

加载中…

关联基因	作用方式	资源库来源/分值

KEGG
Reactomepathway

名称
4630 Jak-STAT signaling pathway [PATH:hsa04630]
4151 PI3K-Akt signaling pathway [PATH:hsa04151]
4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550]
4380 Osteoclast differentiation [PATH:hsa04380]
5200 Pathways in cancer [PATH:hsa05200]
5203 Viral carcinogenesis [PATH:hsa05203]
5212 Pancreatic cancer [PATH:hsa05212]
5152 Tuberculosis [PATH:hsa05152]
5166 HTLV-I infection [PATH:hsa05166]
5162 Measles [PATH:hsa05162]
5164 Influenza A [PATH:hsa05164]
5161 Hepatitis B [PATH:hsa05161]
5160 Hepatitis C [PATH:hsa05160]
5168 Herpes simplex infection [PATH:hsa05168]
5169 Epstein-Barr virus infection [PATH:hsa05169]
5145 Toxoplasmosis [PATH:hsa05145]
5140 Leishmaniasis [PATH:hsa05140]

名称
Activated TLR4 signalling
Antiviral mechanism by IFN-stimulated genes
ARMS-mediated activation
Axon guidance
Cytokine Signaling in Immune system
DAP12 interactions
DAP12 signaling
Developmental Biology
Downstream signal transduction
Downstream signaling of activated FGFR1
Downstream signaling of activated FGFR2
Downstream signaling of activated FGFR3
Downstream signaling of activated FGFR4
ERK activation
ERK1 activation
ERK2 activation
Fc epsilon receptor (FCERI) signaling
FCERI mediated MAPK activation
FRS-mediated FGFR1 signaling
FRS-mediated FGFR2 signaling
FRS-mediated FGFR3 signaling
Frs2-mediated activation
FRS2-mediated FGFR4 signaling
G beta:gamma signalling through PI3Kgamma
G-protein beta:gamma signalling
Gastrin-CREB signalling pathway via PKC and MAPK
GPCR downstream signaling
GPVI-mediated activation cascade
GRB2 events in EGFR signaling
GRB2 events in ERBB2 signaling
Hemostasis
IGF1R signaling cascade
Immune System
Innate Immune System
Insulin receptor signalling cascade
Interferon alpha/beta signaling
Interferon gamma signaling
Interferon Signaling
Interleukin receptor SHC signaling
Interleukin-2 signaling
Interleukin-3, 5 and GM-CSF signaling
Interleukin-6 signaling
Interleukin-7 signaling
IRS-mediated signalling
IRS-related events
IRS-related events triggered by IGF1R
ISG15 antiviral mechanism
MAP kinase activation in TLR cascade
MyD88 cascade initiated on plasma membrane
MyD88 dependent cascade initiated on endosome
MyD88-independent TLR3/TLR4 cascade
MyD88:Mal cascade initiated on plasma membrane
NCAM signaling for neurite out-growth
NGF signalling via TRKA from the plasma membrane
Platelet activation, signaling and aggregation
Prolonged ERK activation events
RAF/MAP kinase cascade
Regulation of IFNA signaling
Regulation of IFNG signaling
SHC-mediated signalling
SHC-related events
SHC-related events triggered by IGF1R
SHC1 events in EGFR signaling
SHC1 events in ERBB2 signaling
SHC1 events in ERBB4 signaling
Signal Transduction
Signaling by EGFR
Signaling by ERBB2
Signaling by ERBB4
Signaling by FGFR
Signaling by FGFR1
Signaling by FGFR2
Signaling by FGFR3
Signaling by FGFR4
Signaling by GPCR
Signaling by Insulin receptor
Signaling by Interleukins
Signaling by Leptin
Signaling by PDGF
Signaling by SCF-KIT
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
Signaling by VEGF
Signalling by NGF
Signalling to ERKs
Signalling to p38 via RIT and RIN
Signalling to RAS
SOS-mediated signalling
Toll Like Receptor 10 (TLR10) Cascade
Toll Like Receptor 2 (TLR2) Cascade
Toll Like Receptor 3 (TLR3) Cascade
Toll Like Receptor 4 (TLR4) Cascade
Toll Like Receptor 5 (TLR5) Cascade
Toll Like Receptor 7/8 (TLR7/8) Cascade
Toll Like Receptor 9 (TLR9) Cascade
Toll Like Receptor TLR1:TLR2 Cascade
Toll Like Receptor TLR6:TLR2 Cascade
Toll-Like Receptors Cascades
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
TRAF6 Mediated Induction of proinflammatory cytokines
TRIF-mediated TLR3/TLR4 signaling
VEGFA-VEGFR2 Pathway
VEGFR2 mediated cell proliferation

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Lupus Erythematosus, Systemic	0.080271442	1	0	BeFree_MGD
Primary Myelofibrosis	0.007991366	14	0	BeFree_GAD
Precursor Cell Lymphoblastic Leukemia Lymphoma	0.006720033	6	0	BeFree_GAD_LHGDN
Polycythemia Vera	0.005276948	4	2	BeFree_GAD
Hepatitis B, Chronic	0.004734064	2	0	GAD
Hepatitis C, Chronic	0.004734064	2	0	GAD
Autoimmune Diseases	0.003538676	3	0	BeFree_LHGDN
Liver carcinoma	0.003452799	4	0	BeFree_GAD
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	0.003452799	5	0	BeFree_GAD
Hepatitis C	0.002995792	2	0	BeFree_LHGDN

Panax quinquefolius saponins promote remyelination via orchestrating HMGCS1-NPC1-MAL-mediated lipid metabolism and rebalancing JAK-STAT signaling in a cuprizone-induced demyelination model.

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The antitumor mechanism of oclacitinib in canine lymphoma.

Harada M, Inanaga S, Sakurai M, Shibutani S, Sugasawa T, Murayama N, Osumi T, Baba Y, Sakai H, Maeda S, Igase M, Mizuno T Sci Rep IF: 4.9 2026-02-12

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Apigenin ameliorates postoperative inflammation and accelerates wound healing in a rat model of perianal abscess by targeting the JAK1/STAT3 pathway in macrophages.

Dai R, Cao L, Ren J, Liu J, Zhu K, Chen P, Yao W, Zhao X, Bao B, Zhang L Front Immunol IF: 7.0 None

Feasibility of combining JAK1 gene editing via CRISPR-CasRx with EGCG-lactoferrin nanoparticle therapy in a microneedle-based platform for atopic dermatitis.

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Exosomal circ_001895 from lung cancer cells drives M2 macrophage polarization via the miR-20a-5p/JAK1/STAT3 axis to promote tumor progression.

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Saquinavir induces pyroptosis through the OTUD5-JAK1-GSDME axis in hepatocellular carcinoma.

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Long-term clinical outcomes with filgotinib in ulcerative colitis: 12-month results from the FILGUITO study.

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Identification of potential mechanisms of ferulic acid in inflammatory bowel disease through integrated network pharmacology and experimental validation.

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JAK1 (Janus kinase 1)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

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