TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAB1provided by HGNC
Official Full Name: TGF-beta activated kinase 1 (MAP3K7) binding protein 1provided by HGNC
Primary source: HGNC:HGNC:18157
See related: Ensembl:ENSG00000100324 MIM:602615; AllianceGenome:HGNC:18157
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 3'-Tab1; MAP3K7IP1
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]
Expression: Ubiquitous expression in ovary (RPKM 7.9), brain (RPKM 7.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (39399780..39437132)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (39870398..39907761)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (39795785..39833137)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Down-regulated TAB1 suppresses the replication of Coxsackievirus B5 via activating the NF-kappaB pathways through interaction with viral 3D polymerase.
Title: Down-regulated TAB1 suppresses the replication of Coxsackievirus B5 via activating the NF-κB pathways through interaction with viral 3D polymerase.
Induction of pro-inflammatory genes by fibronectin DAMPs in three fibroblast cell lines: Role of TAK1 and MAP kinases.
Title: Induction of pro-inflammatory genes by fibronectin DAMPs in three fibroblast cell lines: Role of TAK1 and MAP kinases.
Chlamydia trachomatis antigen induces TLR4-TAB1-mediated inflammation, but not cell death, in maternal decidua cells.
Title: Chlamydia trachomatis antigen induces TLR4-TAB1-mediated inflammation, but not cell death, in maternal decidua cells.
Myeloma cells self-promote migration by regulating TAB1-driven TIMP-1 expression in mesenchymal stem cells.
Title: Myeloma cells self-promote migration by regulating TAB1-driven TIMP-1 expression in mesenchymal stem cells.
the present results indicated that miR889 inhibits the aggressive behaviors of nonsmall cell lung cancer (NSCLC) by directly targeting TAB1 mRNA, thus highlighting the importance of the miR889/TAB1 pathway in the malignant progression of NSCLC.
Title: ΜicroRNA‑889 plays a suppressive role in cell proliferation and invasion by directly targeting TAB1 in non‑small cell lung cancer.
multiple GPCR agonists utilize non-canonical TAB1-TAB2 and TAB1-TAB3-dependent p38 activation to promote endothelial inflammatory responses.
Title: G protein-coupled receptors activate p38 MAPK via a non-canonical TAB1-TAB2- and TAB1-TAB3-dependent pathway in endothelial cells.
Silencing of TAB1, but not TAK1, prevented p38MAPK activation, which is indicative of TAB1-mediated autophosphorylation of p38MAPK
Title: Oxidative stress-induced TGF-beta/TAB1-mediated p38MAPK activation in human amnion epithelial cells.
Based on the crystal structure of the p38alpha-TAB1 complex authors replaced threonine 185 of p38alpha with glycine (T185G) to prevent an intramolecular hydrogen bond with Asp150 from being formed. This mutation did not interfere with TAB1 binding to p38alpha.
Title: TAB1-Induced Autoactivation of p38α Mitogen-Activated Protein Kinase Is Crucially Dependent on Threonine 185.
High TAB1 expression is associated with colorectal cancer.
Title: miR‑873 inhibits colorectal cancer cell proliferation by targeting TRAF5 and TAB1.
TAB1 was identified as a functional target of miR-134, and the expression of TAB1 was increased by the transcription factors of NF-kappaB1, c-Rel, and ELK1 via miR-134.
Title: NF-κB1, c-Rel, and ELK1 inhibit miR-134 expression leading to TAB1 upregulation in paclitaxel-resistant human ovarian cancer.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S1007E (e-PCR)
- UniSTS:150797

D22S1025E (e-PCR)
- UniSTS:150804

RH47637 (e-PCR)
- UniSTS:30233

MAP3K7IP1_9114 (e-PCR)
- UniSTS:468510

RH103004 (e-PCR)
- UniSTS:97338

D22S1000E (e-PCR)
- UniSTS:87619

D22S288E (e-PCR)
- UniSTS:147543

RH11333 (e-PCR)
- UniSTS:85180

WI-18691 (e-PCR)
- UniSTS:5569

BCD2105 (e-PCR)
- UniSTS:47326

WI-12558 (e-PCR)
- UniSTS:6112

D22S1561 (e-PCR)
- UniSTS:60902

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mitogen-activated protein kinase p38 binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aorta development	IEA Inferred from Electronic Annotation more info
involved_in cardiac septum development	IEA Inferred from Electronic Annotation more info
involved_in coronary vasculature development	IEA Inferred from Electronic Annotation more info
involved_in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cGAS/STING signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	TAS Traceable Author Statement more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: TGF-beta-activated kinase 1 and MAP3K7-binding protein 1

Names: TAK1-binding protein 1; mitogen-activated protein kinase kinase kinase 7-interacting protein 1; transforming growth factor beta-activated kinase-binding protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029549.1 RefSeqGene

Range

5027..37129

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006116.3 → NP_006107.1 TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 isoform alpha

See identical proteins and their annotated locations for NP_006107.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) encodes the longer isoform (alpha).

Source sequence(s)

BC050554

Consensus CDS

CCDS13993.1

UniProtKB/Swiss-Prot

Q15750, Q2PP09, Q8IZW2

UniProtKB/TrEMBL

A8K6K3

Related

ENSP00000216160.6, ENST00000216160.11

Conserved Domains (1) summary

pfam00481
Location:69 → 334

PP2C; Protein phosphatase 2C
NM_153497.3 → NP_705717.1 TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 isoform beta

See identical proteins and their annotated locations for NP_705717.1

Status: REVIEWED

Description

Transcript Variant: This variant (beta) uses an alternate exon at the 3' end compared to variant 1, which includes a part of the coding region. The resulting isoform (beta) has a distinct and shorter C-terminus, as compared to isoform alpha. The beta isoform can interact with and activate MAPK14/p38alpha, but it does not bind or activate MAP3K7/TAK1.

Source sequence(s)

AF425640, AI827837, BC050554, Z83845

Consensus CDS

CCDS13992.1

UniProtKB/Swiss-Prot

Q15750

Related

ENSP00000333049.3, ENST00000331454.3

Conserved Domains (1) summary

pfam00481
Location:69 → 334

PP2C; Protein phosphatase 2C