Gene: TAB1

Alternate names for this Gene: 3'-Tab1|MAP3K7IP1

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.1

Description of this Gene: TGF-beta activated kinase 1 (MAP3K7) binding protein 1

Type of Gene: protein-coding

Gene: LOC100506472

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs5750823 in TAB1;LOC100506472 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs5750823 in TAB1;LOC100506472 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs5750823 in TAB1;LOC100506472 gene and von Willebrand's factor (lab test) PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.