1. Gene
  2. TAB1 - TGF-beta activated kinase 1 (MAP3K7) binding protein 1 Gene

TAB1 - TGF-beta activated kinase 1 (MAP3K7) binding protein 1 Gene

Homo sapiens

Also known as 3'-Tab1; MAP3K7IP1

Gene ID: 10454 | Gene type: protein coding

About TAB1

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:39,399,780-39,437,132 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues and 16 paralogues. Ubiquitous expression in ovary (RPKM 7.9), brain (RPKM 7.3) and 25 other tissues.

Summary

The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

TAB1 Products(2)

mRNA Protein Name
NM_006116.3 NP_006107.1 TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 isoform alpha
NM_153497.3 NP_705717.1 TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 isoform beta

TAB1 Protein Structure

PP2C

PP2C: Protein phosphatase 2C (70 - 333)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 504 a.a.
Protein Preferred Names Protein Names

TGF-beta-activated kinase 1 and MAP3K7-binding protein 1

TAK1-binding protein 1

Related Diseases

Diseases Alias
Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant

ECTD10A

Hed

Ectodermal Dysplasia 10a

Ectodermal Dysplasia Hypohidrotic Autosomal Dominant

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant

Hypohidrotic Ectodermal Dysplasia Autosomal Dominant

Ad-Hed

Autosomal Dominant Anhidrotic Ectodermal Dysplasia

Ectodermal Dysplasia 3

Ed3

Eda3

Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant

Dysplasia, Ectodermal, Type 10a, Hypohidrotic/Hair/Nail, Autosomal Dominant

Dysplasia, Ectodermal, Type 3

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

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

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

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
Bos taurus TAB1 VGNC VGNC:58447
Mus musculus TAB1 MGD MGI:1913763
Canis familiaris TAB1 VGNC VGNC:54550
Rattus norvegicus TAB1 RGD RGD:1306216
Macaca mulatta TAB1 VGNC VGNC:84536
Others TAB1 NCBI