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

    Gene ID: 10454, updated on 14-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TAB1 in Genome Data Viewer
    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_000022.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39714617-39715506 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39715507-39716396 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39716397-39717285 Neighboring gene Sharpr-MPRA regulatory region 3662 Neighboring gene small nucleolar RNA, C/D box 43 Neighboring gene ribosomal protein L3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19045 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39753396-39753924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39755840-39756638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39757867-39758453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39758454-39759039 Neighboring gene synaptogyrin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39769919-39770434 Neighboring gene Sharpr-MPRA regulatory region 1576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39811177-39811678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39811679-39812178 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39824885-39825527 Neighboring gene uncharacterized LOC100506472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39829518-39830236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39830237-39830954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19047 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:39843664-39843855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39844165-39845073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19050 Neighboring gene CRISPRi-validated cis-regulatory element chr22.2018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39866163-39867092 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:39869361-39869718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39869884-39870813 Neighboring gene beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39874451-39874952 Neighboring gene MGAT3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 8945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39891955-39892455 Neighboring gene uncharacterized LOC105373035 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39898075-39898576 Neighboring gene mitochondrial elongation factor 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: SYNGR1

    Clone Names

    • MGC57664

    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

    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)

    NEW Try the new Transcript table

    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

    1. NG_029549.1 RefSeqGene

      Range
      5027..37129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006116.3NP_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:69334
      PP2C; Protein phosphatase 2C
    2. NM_153497.3NP_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:69334
      PP2C; Protein phosphatase 2C

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      39399780..39437132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      39870398..39907761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)