1. Gene
  2. MAP3K7 - mitogen-activated protein kinase kinase kinase 7 Gene

MAP3K7 - mitogen-activated protein kinase kinase kinase 7 Gene

中文名称:丝裂原活化蛋白激酶激酶激酶 7

种属: Homo sapiens

同用名: CSCF; FMD2; TAK1; MEKK7; TGF1a

基因 ID: 6885 | 基因类型: protein coding

关于 MAP3K7

Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:90,513,579-90,587,072 (from NCBI)

This gene has 24 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 10.0), endometrium (RPKM 9.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是丝氨酸/苏氨酸蛋白激酶家族的成员。该激酶介导由 TGF β 和形态发生蛋白 (BMP) 诱导的信号转导,并控制多种细胞功能,包括转录调节和细胞凋亡。响应 IL-1,该蛋白形成激酶复合物,包括 TRAF6、MAP3K7P1/TAB1 和 MAP3K7P2/TAB2;这种复合物是激活核因子 kappa B 所必需的。这种激酶还可以激活 MAPK8/JNK、MAP2K4/MKK4,从而在细胞对环境压力的反应中发挥作用。已经报道了编码不同亚型的四种可变剪接的转录物变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and Apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

MAP3K7 基因产物(5)

mRNA Protein Name
NM_003188.4 NP_003179.1 mitogen-activated protein kinase kinase kinase 7 isoform A
NM_145332.3 NP_663305.1 mitogen-activated protein kinase kinase kinase 7 isoform C
XM_006715553.4 XP_006715616.1 mitogen-activated protein kinase kinase kinase 7 isoform X1
NM_145333.3 NP_663306.1 mitogen-activated protein kinase kinase kinase 7 isoform D
NM_145331.3 NP_663304.1 mitogen-activated protein kinase kinase kinase 7 isoform B

MAP3K7 蛋白结构

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (36 - 283)

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  • 500
  • 606 a.a.
蛋白主名 其他名称

mitogen-activated protein kinase kinase kinase 7

TGF-beta activated kinase 1

transforming growth factor-beta-activated kinase 1

关联疾病

疾病名称 别名
Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Otopalatodigital Syndrome Spectrum Disorder

Opd Spectrum Disorder

Opsd

Fronto-Otopalatodigital Osteodysplasia

Frontometaphyseal Dysplasia 2

FMD2

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Synostosis
Brachydactyly
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

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

Cardiospondylocarpofacial Syndrome

Mitral Regurgitation, Conductive Deafness, And Fusion Of Cervical Vertebrae And Of Carpal And Tarsal Bones

Forney Robinson Pascoe Syndrome

CSCF

Mitral Regurgitation, Conductive Deafness, And Fusion Of Cervical Vertebrae And

Congenital Heart Disease, Deafness, And Skeletal Malformations

Forney Syndrome

Forney-Robinson-Pascoe Syndrome

Mitral Regurgitation-Deafness-Skeletal Anomalies Syndrome

Mitral Regurgitation-Hearing Loss-Skeletal Anomalies Syndrome

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening

Non-Syndromic X-Linked Intellectual Disability 91

Mrx91

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
Mus musculus MAP3K7 MGD MGI:1346877
Rattus norvegicus MAP3K7 RGD RGD:1309438
Bos taurus MAP3K7 VGNC VGNC:31200
Macaca mulatta MAP3K7 VGNC VGNC:74497
Canis familiaris MAP3K7 VGNC VGNC:42977
Felis catus MAP3K7 VGNC VGNC:68161
Others MAP3K7 NCBI