1. Gene
  2. IRAK4 - interleukin 1 receptor associated kinase 4 Gene

IRAK4 - interleukin 1 receptor associated kinase 4 Gene

中文名称:白介素 1 受体相关激酶 4

种属: Homo sapiens

同用名: IPD1; IMD67; REN64; IRAK-4; NY-REN-64

基因 ID: 51135 | 基因类型: protein coding

关于 IRAK4

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:43,758,951-43,789,541 (from NCBI)

This gene has 18 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 7.4), appendix (RPKM 6.9) and 25 other tissues.

功能概要

该基因编码的激酶可在 Toll 样受体 (TLR) 和 T 细胞受体 (TCR) 信号通路中激活 NF-kappaB。该蛋白质对于大多数先天免疫反应至关重要。该基因的突变导致 IRAK4 缺陷和复发性侵袭性肺炎球菌疾病。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a kinase that activates NF-kappaB in both the Toll-like Receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

IRAK4 基因产物(19)

mRNA Protein Name
NM_001145258.2 NP_001138730.1 interleukin-1 receptor-associated kinase 4 isoform b
XM_005268943.4 XP_005269000.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_016123.4 NP_057207.2 interleukin-1 receptor-associated kinase 4 isoform a
XM_017019390.3 XP_016874879.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_001351342.2 NP_001338271.1 interleukin-1 receptor-associated kinase 4 isoform b
XM_006719438.4 XP_006719501.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_001351344.2 NP_001338273.1 interleukin-1 receptor-associated kinase 4 isoform c
XM_005268945.5 XP_005269002.1 interleukin-1 receptor-associated kinase 4 isoform X1
XM_011538431.3 XP_011536733.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_001351338.2 NP_001338267.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001351343.2 NP_001338272.1 interleukin-1 receptor-associated kinase 4 isoform c
XM_005268944.5 XP_005269001.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_001351341.2 NP_001338270.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001351339.2 NP_001338268.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001145256.2 NP_001138728.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001145257.2 NP_001138729.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001351345.2 NP_001338274.1 interleukin-1 receptor-associated kinase 4 isoform a
NM_001351340.2 NP_001338269.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001114182.3 NP_001107654.1 interleukin-1 receptor-associated kinase 4 isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables kinase activity IDA
IDA: 通过直接分析推断
11960013 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12496252 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
33238146 GOA
enables protein serine/threonine kinase activity EXP
EXP: 通过实验结果推断
11960013 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
11960013 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in interleukin-1-mediated signaling pathway IDA
IDA: 通过直接分析推断
20485341 GOA
involved in interleukin-33-mediated signaling pathway IDA
IDA: 通过直接分析推断
11960013 GOA
involved in neutrophil mediated immunity IMP
IMP: 通过突变表型推断
19663824 GOA
involved in neutrophil migration IMP
IMP: 通过突变表型推断
19663824 GOA
acts upstream of or within positive regulation of canonical NF-kappaB signal transduction IMP
IMP: 通过突变表型推断
22158417 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cell surface IDA
IDA: 通过直接分析推断
22851693 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

IRAK4 蛋白结构

Pkinase

Pkinase: Protein kinase domain (190 - 452)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 460 a.a.
蛋白主名 其他名称

interleukin-1 receptor-associated kinase 4

renal carcinoma antigen NY-REN-64

重组 IRAK4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73255 IRAK4 Protein, Human (sf9, His) Q9NWZ3-1 (M1-S460) ≥95%

关联疾病

疾病名称 别名
Disease By Infectious Agent

Infectious Disease

Infectious Diseases

Bacterial Infectious Disease

Bacterial Infections

Bacterial Infection Nos

Disease Caused By Bacteria

Bacterial Disease Or Disorder

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency Disease

Primary Immunodeficiency

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Lymphoplasmacytic Lymphoma

Waldenstrom Macroglobulinemia

Malignant Lymphoma - Lymphoplasmacytic

Waldenström Macroglobulinaemia

Waldenström Macroglobulinaemia Without Mention Of Remission

Idiopathic Macroglobulinaemia

Primary Macroglobulinaemia

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia

Hed

Anhidrotic Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic

Eda

Christ-Siemens-Touraine Syndrome

ECTD10B

Ectodermal Dysplasia Anhidrotic

Ectodermal Dysplasia, Anhidrotic

Cst Syndrome

Ectodermal Dysplasia Hypohidrotic Autosomal Recessive

Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive

Dysplasia, Ectodermal, Hypohidrotic

Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Ectodermal Dysplasia 3, Anhidrotic

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Ecthyma
Maxillary Sinusitis
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]

Waldenstroem'S Macroglobulinemia

Waldenstrom Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstrom'S Macroglobulinaemia

Waldenstrom'S Syndrome

Waldenström Macroglobulinemia

Waldenstrom'S Macroglobulinemia

Wm

Waldenström'S Macroglobulinemia

Malignant Lymphoma - Lymphoplasmacytic

Chronic Maxillary Sinusitis

Chronic Antritis

Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous

Cmc

Candidiasis Chronic Mucocutaneous

Immunodeficiency 67

Irak4 Deficiency

Invasive Pneumococcal Disease, Recurrent Isolated

IMD67

Irak-4 Deficiency

Interleukin-1 Receptor-Associated Kinase 4 Deficiency

Ikak4d

Ipd

Interleukin Receptor-Associated Kinase Deficiency

Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency

Ipd1

Irak4d

Recurrent Isolated Invasive Pneumococcal Disease 1

Invasive Pneumococcal Disease, Recurrent Isolated, 1

Pericarditis
Smallpox

Variola

Ordinary Smallpox

Alastrim

Amaas

Glycogen Storage Disease Iv

Gsd Iv

Glycogen Branching Enzyme Deficiency

Andersen Disease

Amylopectinosis

Glycogen Storage Disease Type Iv

GSD4

Brancher Deficiency

Glycogen Storage Disease, Type Iv

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gbe1 Deficiency

Glycogenosis Iv

Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

Glycogen Storage Disease Type 4

Glycogenosis 4

Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

Andersen'S Disease

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Brancher Deficiency Glycogenosis

Branching-Transferase Deficiency Glycogenosis

Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

Andersen-Tawil Syndrome

Gsd 4

Andersen Cardiodysrhythmic Periodic Paralysis

Lqt7

Long Qt Syndrome 7

Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

Andersen Glycogenosis

Branching Enzyme Deficiency

Glycogenosis, Type Iv

Gsd Type Iv

Type Iv Glycogenosis

Gbe Deficiency, Childhood Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Gsd Type 4, Childhood Neuromuscular Form

Gsdiv, Childhood Neuromuscular Form

Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogenosis Type 4, Childhood Neuromuscular Form

Glycogenosis Type Iv, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gbe Deficiency, Adult Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gsd Type 4, Adult Neuromuscular Form

Gsdiv, Adult Neuromuscular Form

Glycogen Storage Disease Type 4, Adult Neuromuscular Form

Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Glycogenosis Type 4, Adult Neuromuscular Form

Glycogenosis Type Iv, Adult Neuromuscular Form

Gbe Deficiency, Congenital Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gsd Type 4, Congenital Neuromuscular Form

Gsdiv, Congenital Neuromuscular Form

Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Glycogenosis Type 4, Congenital Neuromuscular Form

Glycogenosis Type Iv, Congenital Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

Gsdiv, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Type 4, Fatal Perinatal Neuromuscular Form

Gsdiv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gbe Deficiency, Non Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gsd Type 4, Non Progressive Hepatic Form

Gsdiv, Non Progressive Hepatic Form

Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Glycogenosis Type 4, Non Progressive Hepatic Form

Glycogenosis Type Iv, Non Progressive Hepatic Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gbe Deficiency, Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gsd Type 4, Progressive Hepatic Form

Gsdiv, Progressive Hepatic Form

Glycogen Storage Disease Type 4, Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Glycogenosis Type 4, Progressive Hepatic Form

Glycogenosis Type Iv, Progressive Hepatic Form

Glycogen Storage Disease 4

Gsd-Iv

Storage Disease, Glycogen, Type Iv

Meningitis

Streptococcal Meningitis

Acute Streptococcal Meningitis

Staphylococcal Meningitis

Adenoviral Meningitis

Influenza Meningitis

Influenzal Meningitis

Meningitis Due To H. Influenzae

Cryptococcal Meningitis

Fungal Meningitis Due To Cryptococcus Neoformans

Cryptococcosis Meningitis

Cryptococcus Meningitis

Cryptococcal Meningoencephalitis

Meningitis Due To Cryptococcus

Mumps Virus Meningitis

Mumps Meningitis

Immunodeficiency 33

IMD33

X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency

X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Nemo Deficiency

X-Linked Msmd Due To Ikbkg Deficiency

X-Linked Msmd Due To Nemo Deficiency

Invasive Pneumococcal Disease, Recurrent Isolated, 2

Invasive Pneumococcal Disease, Recurrent Isolated, 2, Formerly

Ipd2, Formerly

Nf-Kappa B Essential Modulator Deficiency

Familial X-Linked 1 Atypical Mycobacteriosis

Nemo Deficiency Syndrome

Amcbx1

Familial, X-Linked, Atypical Mycobacteriosis 1

Ipd2

Recurrent Isolated Invasive Pneumococcal Disease 2

X-Linked Disseminated Atypical Mycobacterial Infection Type 1

X-Linked Immunodeficiency 33, Mycobacteriosis

X-Linked Susceptibility To Mycobacterial Disease Type 1

Invasive Pneumococcal Disease, Recurrent Isolated, Type 2

Atypical Mycobacteriosis, Familial, X-Linked 1

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris IRAK4 VGNC VGNC:42089
Felis catus IRAK4 VGNC VGNC:62972
Macaca mulatta IRAK4 VGNC VGNC:73617
Rattus norvegicus IRAK4 RGD RGD:1305303
Bos taurus IRAK4 VGNC VGNC:30268
Mus musculus IRAK4 MGD MGI:2182474
Others IRAK4 NCBI