JAK1 - Janus kinase 1 Gene

Also Known as JTK3; AIIDE; JAK1A; JAK1B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3716

About JAK1

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:64,833,229-65,067,746 (from NCBI)

This gene has 31 transcripts (splice variants), 238 orthologues, 32 paralogues and is associated with 113 phenotypes. Ubiquitous expression in lymph node (RPKM 51.3), fat (RPKM 49.8) and 25 other tissues.

Summary

This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic Cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]

JAK1 Products (12)

mRNA Protein Name
NM_002227.4 NP_002218.2 tyrosine-protein kinase JAK1 isoform 1
NM_001321853.2 NP_001308782.1 tyrosine-protein kinase JAK1 isoform 1
NM_001321852.2 NP_001308781.1 tyrosine-protein kinase JAK1 isoform 1
NM_001321854.2 NP_001308783.1 tyrosine-protein kinase JAK1 isoform 1
XM_047419674.1 XP_047275630.1 tyrosine-protein kinase JAK1 isoform X1
XM_047419676.1 XP_047275632.1 tyrosine-protein kinase JAK1 isoform X2
XM_047419675.1 XP_047275631.1 tyrosine-protein kinase JAK1 isoform X1
NM_001321856.2 NP_001308785.1 tyrosine-protein kinase JAK1 isoform 1
XM_047419677.1 XP_047275633.1 tyrosine-protein kinase JAK1 isoform X2
NM_001321855.2 NP_001308784.1 tyrosine-protein kinase JAK1 isoform 1
NM_001321857.2 NP_001308786.1 tyrosine-protein kinase JAK1 isoform 2
NM_001320923.2 NP_001307852.1 tyrosine-protein kinase JAK1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables non-membrane spanning protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
7657660 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
7759950 GOA
enables protein phosphatase binding IPI
IPI: Inferred from physical interaction
11909529 GOA
enables protein tyrosine kinase activity EXP
EXP: Inferred from Experiment
1386289 GOA
enables protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
7532278 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
24882218 GOA
Biological Process GO Annotation Evidence References Source
involved in cell surface receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
7657660 GOA
involved in cell surface receptor signaling pathway via JAK-STAT IMP
IMP: Inferred from mutant phenotype
28111307 GOA
involved in interleukin-10-mediated signaling pathway IDA
IDA: Inferred from direct assay
7543512 GOA
involved in interleukin-11-mediated signaling pathway IDA
IDA: Inferred from direct assay
8272872 GOA
involved in interleukin-15-mediated signaling pathway IDA
IDA: Inferred from direct assay
7568001 GOA
involved in interleukin-2-mediated signaling pathway IDA
IDA: Inferred from direct assay
7973659 GOA
involved in interleukin-4-mediated signaling pathway IDA
IDA: Inferred from direct assay
7929391 GOA
involved in interleukin-6-mediated signaling pathway IDA
IDA: Inferred from direct assay
8272873 GOA
involved in interleukin-9-mediated signaling pathway IDA
IDA: Inferred from direct assay
8756628 GOA
involved in positive regulation of homotypic cell-cell adhesion IMP
IMP: Inferred from mutant phenotype
21679692 GOA
involved in positive regulation of protein localization to nucleus IDA
IDA: Inferred from direct assay
26479788 GOA
involved in positive regulation of sprouting angiogenesis IGI
IGI: Inferred from genetic interaction
20299512 GOA
involved in protein localization to cell-cell junction IMP
IMP: Inferred from mutant phenotype
21679692 GOA
involved in protein phosphorylation IMP
IMP: Inferred from mutant phenotype
28111307 GOA
acts upstream of or within response to antibiotic IDA
IDA: Inferred from direct assay
16280321 GOA
involved in type I interferon-mediated signaling pathway IDA
IDA: Inferred from direct assay
7532278 GOA
involved in type II interferon-mediated signaling pathway IDA
IDA: Inferred from direct assay
8232552 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
10502458 GOA
is active in cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
8272873 GOA
is active in extrinsic component of cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
7973659 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10502458 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

JAK1 Protein Structure

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (584 - 844)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (876 - 1147)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1154 a.a.
Protein Preferred Names Protein Names

tyrosine-protein kinase JAK1

JAK1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
JAK1 P23458 STAT1 Homo sapiens P42224 32953130
Intra
JAK1 P23458 JAK2 Homo sapiens O60674 26175413
Intra
JAK1 P23458 JAK2 Homo sapiens O60674 26175413
Intra
JAK1 P23458 STAT3 Homo sapiens P40763 31462771
Intra
JAK1 P23458 IFNAR2 Homo sapiens P48551 16710296
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant JAK1 Proteins

Cat. No. Product Name Accession Purity
HY-P78739 JAK1 Protein, Human (Inactive, sf9, His) P23458 (A561-N852) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P700583 JAK1 Protein, Human (P. pastoris, His) P23458 (E850-K1154) ≥ 90%, as determined by reducing SDS-PAGE.

JAK1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80196 JAK1 Antibody (YA331) WB, IHC-P, FC Human, Mouse, Rat
HY-P80726 JAK1 Antibody (YA722) WB, ICC/IF, IP Human, Rat
HY-P80726A JAK1 Antibody (YA722)(PBS only) WB, ICC/IF, IP Human, Rat
HY-P80829A Phospho-JAK2 (Tyr1007/1008) Antibody (YA6449) WB, IHC-P, ICC/IF, IP, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Myeloproliferative Neoplasm
  • Myeloproliferative Disorder

  • Chronic Myeloproliferative Disease

  • Myeloproliferative Neoplasms

  • Chronic Myeloproliferative Disorder

  • Cmpd

  • Cmpd, U

  • Chronic Myeloproliferative Disorders

  • Mpd

  • Mpn

  • Myeloproliferative Disorders

  • Myeloproliferative Disease

  • Campomelic Dysplasia

Nasopharyngitis
  • Chronic Nasopharyngitis

  • Chronic Rhinopharyngitis

Immunodeficiency 35
  • Tyrosine Kinase 2 Deficiency

  • IMD35

  • Tyk2 Deficiency

  • Autosomal Recessive Hyper-Ige Syndrome With Atypical Mycobacteriosis

  • Susceptibility To Infection Due To Tyk2 Deficiency

  • Hyper-Ige Syndrome With Atypical Mycobacteriosis, Autosomal Recessive

  • Hies With Atypical Mycobacteriosis, Autosomal Recessive

  • Autosomal Recessiv Hies With Atypical Mycobacteriosis

  • Autosomal Recessive Hyper-Ige Syndrome Due To Tyk2 Deficiency

  • Autosomal Recessive Hies With Atypical Mycobacteriosis

Autoinflammation, Immune Dysregulation, And Eosinophilia
  • AIIDE

  • Atopic Dermatitis, Enteritis, Colitis, And Eosinophilia

Mixed Lacrimal Gland Cancer
  • Carcinoma Ex Pleomorphic Adenoma Of Lacrimal Gland

  • Carcinoma Ex Pleomorphic Adenoma Of The Lacrimal Gland

  • Malignant Mixed Neoplasm Of Lacrimal Gland

Autoimmune Disease Of Skin And Connective Tissue
Inflammatory Bowel Disease
  • Inflammatory Bowel Diseases

  • Bowel Disease, Inflammatory

Hepatitis
  • Chronic Hepatitis

  • Chronic Persistent Hepatitis

  • Acute Hepatitis

  • Hepatitis, Chronic

  • Acute And Subacute Liver Necrosis

  • Acute/Subac. Necrosis Of Liver

  • Animal Hepatitis

  • Hepatitis Chronic

  • Hepatitis A

  • Hepatitis, Animal

  • Hepatitis Due To Toxoplasmosis

  • Hepatitis In Toxoplasmosis

  • Toxoplasmal Hepatitis

  • Chronic Hepatitis, Unspecified

  • Chronic Active Hepatitis Nec

  • Other Specified Chronic Hepatitis

  • Chronic Persistent Hepatitis Nec

  • Chronic Lobular Hepatitis Nec

Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Central Nervous System Vasculitis
  • Vasculitis, Central Nervous System

Bone Marrow Cancer
  • Malignant Neoplasm Of Bone Marrow

  • Bone Marrow Neoplasm

  • Bone Marrow Tumor

  • Malignant Bone Marrow Tumor

  • Myeloproliferative Disorders

  • Bone Marrow Neoplasms

  • Myeloproliferative Disease

  • Chronic Myeloproliferative Disorder

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Herpes Zoster
  • Shingles

  • Zoster

  • Herpes Zona

  • Herpes Zoster Disease

  • Zona Zoster

  • Herpes Zoster Of Skin And Mucous Membranes

  • Zoster Nos

  • Zoster With Nervous System Involvement

Asthma
  • Chronic Obstructive Asthma

  • Asthma, Diminished Response To Antileukotriene Treatment In

  • Bronchial Hyperreactivity

  • Asthma, Susceptibility To

  • Asthma, Bronchial

  • Asthma, Protection Against

  • Asthma, Nocturnal, Susceptibility To

  • Nocturnal Asthma

  • Asthma-Related Traits

  • Asthma-Related Traits, Susceptibility To

  • Asthma, Nocturnal

  • Chronic Obstructive Asthma With Acute Exacerbation

  • Chronic Obstructive Asthma With Status Asthmaticus

  • Exercise Induced Asthma

  • Exercise-Induced Asthma

  • Bronchial Asthma

  • Asthma, Exercise-Induced

  • Idiosyncratic Asthma

  • Unspecified Asthma With Acute Exacerbation

  • Asthma, Unspecified, With Stated Status Asthmaticus

  • Status Asthmaticus Nos

  • Acute Severe Asthma

  • Acute Severe Bronchial Asthma

  • Status Asthma

  • Status Post Asthmaticus

Leukemia, Acute Lymphoblastic
  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Cancer Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

T-Cell Prolymphocytic Leukemia
  • T Cell Prolymphocytic Leukemia

  • Prolymphocytic Leukemia, T-Cell Type

  • T-Pll

  • T-Cell Chronic Lymphocytic Leukemia

  • Lymphocytic Leukemia T-Cell Chronic

  • Doid:0081042

  • Leukemia, T-Cell, Chronic

  • Prolymphocytic Leukaemia Of T-Cell Type Without Mention Of Remission

Rheumatoid Arthritis
  • RA

  • Arthritis, Rheumatoid

  • Rheumatoid Arthritis, Susceptibility To

  • Arthritis Or Polyarthritis, Rheumatic

  • Atrophic Arthritis

  • Rheumatism Arthritis

  • Rheumatoid Polyarthritis

Hemophagocytic Lymphohistiocytosis
  • Lymphohistiocytosis, Hemophagocytic

  • Haemophagocytic Syndrome

  • Lymphohistiocytosis Hemophagocytic

  • Hemophagocytic Syndrome

  • Familial Hemophagocytic Lymphocytosis

  • Histiocytoses Of Mononuclear Phagocytes

  • Haemophagocytic Lymphohistiocytosis Nos

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Leukemia, Myeloid, Acute

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Severe Combined Immunodeficiency
  • Scid

  • Severe Combined Immunodeficiency Disease

  • Combined T And B Cell Inborn Immunodeficiency

  • Immunodeficiency, Severe Combined

  • Scid - [Severe Combined Immunodeficiencies]

Leukemia, Acute, X-Linked
Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Jak1 Deficiency
  • Autosomal Recessive Msmd Due To Partial Jak1 Deficiency

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Chronic Mucocutaneous Candidiasis
  • Candidiasis, Chronic Mucocutaneous

  • Cmc

  • Candidiasis Chronic Mucocutaneous

Polycythemia
  • Erythrocythemia

  • Polycythemia Vera

  • Polycythaemia Due To High Altitude

Severe Combined Immunodeficiency, X-Linked
  • X-Linked Severe Combined Immunodeficiency

  • SCIDX1

  • XSCID

  • Scidx

  • X-Linked Scid

  • X-Scid

  • Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

  • Scid, X-Linked

  • Immunodeficiency 4

  • Imd4

  • Gamma Chain Deficiency

  • Scid-X1

  • X-Linked Combined Immunodeficiency Diseases

  • Thymic Epithelial Hypoplasia

  • Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency

  • Severe Combined Immunodeficiency T- B+, X-Linked

  • Il2rg Scid, T- B+ Nk-

  • T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency

  • T-B+ Scid Due To Gamma Chain Deficiency

  • T-B+ Severe Combined Immunodeficiency, X-Linked

  • Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative

  • Agammaglobulinemia Swiss Type

  • Scid X-Linked

  • Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative

  • Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative

  • Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Myeloma, Multiple
  • Multiple Myeloma

  • Kahler Disease

  • Myelomatosis

  • Plasma Cell Myeloma

  • Medullary Plasmacytoma

  • Multiple Myeloma, Resistance To

  • Myeloma

  • Plasma Cell Dyscrasia

  • Multiple Myeloma, Susceptibility To

  • Myeloma - Multiple

  • Kahler'S Disease

  • Kahler-Bozzolo Disease

  • Plasma Cell Myelomas

  • MM

  • Plasma Cell Neoplasm

  • Primary Systemic Amyloidosis

  • Primary Amyloidosis

  • Immunoglobulin Deposition Disease

  • Plasmacytic Myeloma

  • Multiple Myelomata

  • Multiple Myeloma Nos

  • Multiple Myeloma Without Mention Of Remission

  • Monostotic Plasma Cell Myeloma

  • Mm - [Multiple Myeloma]

Acute Megakaryoblastic Leukemia In Down Syndrome
  • Ds-Amkl

Autoimmune Lymphoproliferative Syndrome
  • ALPS

  • Canale-Smith Syndrome

  • Autoimmune Lymphoproliferative Syndrome, Type Ia

  • Autoimmune Lymphoproliferative Syndrome, Type Ib

  • Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

  • Css

  • Autoimmune Lymphoproliferative Syndrome, Type 1b

  • Autoimmune Lymphoproliferative Syndrome, Type 1a

  • Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

  • Fas Deficiency

  • Autoimmune Lymphoproliferative Syndrome 1a

  • ALPS1A

  • Autoimmune Lymphoproliferative Syndrome Type Ia

  • Autoimmune Lymphoproliferative Syndrome 1b

  • ALPS1B

  • Autoimmune Lymphoproliferative Syndrome Type Ib

Breast Cancer
  • Breast Carcinoma

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Male Breast Cancer

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Hypereosinophilic Syndrome
  • Eosinophilia

  • HES

  • Eosinophilic Leukocytosis

  • Hypereosinophilic Syndrome, Idiopathic

  • Idiopathic Hypereosinophilic Syndrome

  • Disseminated Eosinophilic Collagen Disease

  • Eosinophilic Disorder

  • Disorders With Increased Eosinophil Counts

Aicardi-Goutieres Syndrome
  • Aicardi Goutieres Syndrome

  • Cree Encephalitis

  • Encephalopathy With Basal Ganglia Calcification

  • Aicardi-Goutières Syndrome

  • Ags

  • Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

  • Pseudotoxoplasmosis Syndrome

  • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

  • Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

  • Aicardi-Goutieres Syndrome 1

Alopecia Universalis Congenita
  • Alopecia Universalis

  • ALUNC

  • Atrichia, Generalized

  • Au

  • Alopecia Areata Universalis

  • Atrichia Generalized

Myelofibrosis
  • Primary Myelofibrosis

  • Agnogenic Myeloid Metaplasia

  • Idiopathic Myelofibrosis

  • Myeloid Metaplasia

  • Myelofibrosis With Myeloid Metaplasia

  • Osteomyelofibrosis

  • Megakaryocytic Myelosclerosis

  • Myelosclerosis

  • Chronic Idiopathic Myelofibrosis

  • Myelofibrosis, Idiopathic

  • Myelofibrosis With Myeloid Metaplasia, Somatic

  • Myelofibrosis, Somatic

  • Aleukemic Myelosis

  • Bone Marrow Fibrosis

  • MYELOF

  • MMM

  • Agnogenic Myeloid Metaplasia With Myelofibrosis

  • Ammm

  • Myelosclerosis With Myeloid Metaplasia

  • Myelofibrosis Nos

Endometrial Cancer
  • Endometrial Carcinoma

  • Endometrial Neoplasm

  • Malignant Neoplasm Of Endometrium

  • Endometrioid Carcinoma

  • Endometrial Neoplasms

  • Carcinoma, Endometrioid

  • Endometrial Cancer, Familial

  • Endometrial Carcinoma, Somatic

  • Endometrial Cancer, Susceptibility To

  • Endometrial Ca

  • Malignant Endometrial Neoplasm

  • Neoplasm Of Endometrium

  • Primary Malignant Neoplasm Of Endometrium

  • Tumor Of Endometrium

  • Carcinoma Of The Endometrium

  • Endometrioid Carcinoma Of Female Reproductive System

  • ENDMC

  • Carcinoma Endometrioid

  • Endometrial Cancers

  • Cancer, Endometrial

  • Uterine Corpus Cancer

Immunodeficiency 27a
  • IMD27A

  • Autosomal Recessive Ifngr1 Deficiency

  • Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis

  • Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

  • Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

  • Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency

  • Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

  • Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive

  • Ifngr1 Deficiency, Autosomal Recessive

  • Immunodeficiency 27a, Mycobacteriosis, Ar

  • Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency

  • Msmd Due To Complete Ifngammar1 Deficiency

  • Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency

  • Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency

  • Familial Disseminated Atypical Mycobacterial Infection

  • Interferon Gamma, Receptor 1, Deficiency

  • Immunodeficiency, Type 27a, Mycobacteriosis, Ar

  • Mycobacterial Disease, Mendelian Susceptibility To

Skin Disease
  • Skin Diseases

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Genodermatosis

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Sezary'S Disease
  • Sezary Syndrome

  • Sézary Syndrome

  • Sezary'S Lymphoma

  • Sezary Disease

  • Sezary Erythroderma

  • Sezary Lymphoma

Autoimmune Disease Of Musculoskeletal System
Fallopian Tube Clear Cell Adenocarcinoma
  • Clear Cell Carcinoma Of The Fallopian Tube

Plasmablastic Lymphoma
  • Pbl

  • Immunoblastic Large-Cell Lymphoma

Behcet Syndrome
  • Behcet Disease

  • Behcet'S Syndrome

  • Behcet'S Disease

  • Behçet Disease

  • Bd

  • Adamantiades-Behcet Disease

  • Triple Symptom Complex

  • Behet'S Syndrome

  • Bd Syndrome

  • Behçet Syndrome

  • Behçet'S Disease

  • Behçet'S Syndrome

  • Behcet Triple Symptom Complex

  • Malignant Aphthosis

  • Old Silk Route Disease

  • Adamantiades-Behçet Disease

Intellectual Developmental Disorder, Autosomal Dominant 4
  • MRD4

  • Autosomal Dominant Non-Syndromic Intellectual Disability 4

  • Mental Retardation, Autosomal Dominant 4

  • Autosomal Dominant Intellectual Developmental Disorder 4

Lymphoblastic Leukemia, Acute, With Lymphomatous Features
  • LALL

  • Lymphomatous All

  • Leukemia, Acute Lymphoblastic

  • Acute Lymphoblastic Leukemia With Lymphomatous Features

Chilblain Lupus 1
  • Chilblain Lupus

  • CHBL1

  • Chilblain Lupus Erythematosus

  • Chle

  • Hutchinson Lupus

  • Chilblain Lupus, Type 1

Fibrosarcoma
  • Neoplasms, Fibrous Tissue

  • Fibrocytic Tumor

  • Fibrosarcoma Of Soft Tissue

  • Fibrous Tissue Neoplasm

Hyper Ige Syndrome
  • Hyper-Ige Syndrome

  • Hyper Immunoglobulin E Syndrome

  • Hies

  • Hyper-Ige Recurrent Infection Syndrome

  • Hyperimmunoglobulin E Syndrome

  • Hyper Ige

  • Job Syndrome

  • Hartnup Disease

Dermatitis
  • Eczema

  • Skin Inflammation

  • Inflammatory Dermatosis

Psoriasis
Measles
  • Rubeola

  • Morbilli

  • Measles Nos

  • Koplik Spots

Lymphoproliferative Syndrome
  • Lymphoproliferative Disorder

  • Lymphoproliferative Disorders

  • Lymphoproliferative Disorders, Susceptibility To

Essential Thrombocythemia
  • Essential Thrombocytosis

  • Familial Thrombocytosis

  • Hemorrhagic Thrombocythemia

  • Hereditary Thrombocythemia

  • Primary Thrombocytosis

  • Idiopathic Thrombocythemia

  • Primary Thrombocythemia

  • Thrombocythemia, Essential

  • Essential Thrombocythaemia

  • Et

  • Familial Thrombocythemia

  • Thrombocythemia Essential

Combined Immunodeficiency
  • Combined T Cell And B Cell Immunodeficiency

  • Congenital Combined Immunodeficiency

  • Syndrome With Combined Immunodeficiency

  • Combined T And B Cell Immunodeficiency

  • Combined Immunity Deficiency

  • Combined Immunodeficiency Syndrome

  • Combined T-Cell And B-Cell Immunodeficiency

  • Lymphopenic Agammaglobulinaemia

Blood Platelet Disease
  • Platelet Disorder

  • Blood Platelet Disorders

  • Thrombocytopathy

  • Platelet Dysfunction

  • Platelet Disorders

  • Qualitative Platelet Deficiency

Polycythemia Vera
  • PV

  • Polycythemia Rubra Vera

  • Prv

  • Osler-Vaquez Disease

  • Chronic Erythremia

  • Polycythaemia Rubra Vera

  • Primary Polycythemia

  • Vaquez Disease

  • Polycythemia Vera, Somatic

  • Osler-Vaquez Syndrome

  • Proliferative Polycythaemia

  • Polycythemia Ruba Vera

  • Acquired Primary Erythrocytosis

  • Heilmeyer-Schoner Disease

  • Vaquez Osler Disease

  • Primary Polycythaemia

Wernicke Encephalopathy
  • Wernicke'S Encephalopathy

  • Wernicke'S Disease

  • Encephalopathy, Wernicke'S

  • Wernicke-Korsakoff Syndrome

  • Encephalopathy Due To Vitamin B1 Deficiency

  • Wernicke Disease

  • Wernicke Syndrome

Psoriatic Arthritis
  • Psoriatic Arthritis, Susceptibility To

  • Psoriatic Arthropathy

  • Arthropathic Psoriasis

  • Arthritis, Psoriatic

  • Arthritis Psoriatica

  • PSORAS

  • Arthritic Psoriasis

  • Psoriasis Arthropathica

  • Arthritis Psoriatic

  • Arthritis, Psoriatic, Susceptibility To

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Temporal Arteritis
  • Polymyalgia Rheumatica

  • Giant Cell Arteritis

  • Cranial Arteritis

  • Horton Disease

  • Gca

  • Horton'S Disease

  • Rhizomelic Pseudopolyarthritis

  • Arteritis Cranialis

  • Arteritis Temporalis

  • Horton'S Arteritis

  • Horton'S Giant Cell Arteritis

  • Horton'S Temporal Arteritis

  • Horton'S Syndrome

  • Gca - [Giant Cell Arteritis]

  • Senile Arthritis

  • Polymyalgia Arteritica

  • Pmr - [Polymyalgia Rheumatica]

  • Forestier-Certonciny Syndrome

  • Rheumatic Polymyalgia

  • Polymyalgia

Breast Implant-Associated Anaplastic Large Cell Lymphoma
Dermatitis, Atopic
  • Atopic Dermatitis

  • Atopic Eczema

  • Dermatitis, Atopic, Susceptibility To, 1

  • Atod

  • Eczema, Atopic

  • Dermatitis, Atopic 1

  • Allergic Dermatitis

  • Atopic Neurodermatitis

  • Besnier'S Prurigo

  • Dermatitis, Atopic, 1

  • Dermatitis Atopic

  • Eczema

  • Besnier Prurigo

Hepatitis C
  • Chronic Hepatitis C

  • Hepatitis C Infection

  • Hepatitis Nona Nonb

  • Nanbh

  • Viral Hepatitis C

  • Hepatitis C Chronic

  • Hepatitis C, Chronic

  • Chronic Type C Viral Hepatitis

  • Chronic Hcv - [Hepatitis C Virus] Infection

  • Hepatitis C Nos

  • Hepatitis C Infection Nos

  • Hepatitis C-Related Cirrhosis

  • Type C Viral Hepatitis

  • Hep C Nos

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Sting-Associated Vasculopathy With Onset In Infancy
  • Savi

  • Sting-Associated Vasculopathy, Infantile Onset

  • Sting-Associated Vasculopathy, Infantile-Onset

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus JAK1 VGNC VGNC:67876
Canis familiaris JAK1 VGNC VGNC:42175
Macaca mulatta JAK1 VGNC VGNC:73810
Rattus norvegicus JAK1 RGD RGD:69056
Bos taurus JAK1 VGNC VGNC:30364
Mus musculus JAK1 MGD MGI:96628
Others JAK1 NCBI