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    TRIOBP TRIO and F-actin binding protein [ Homo sapiens ]

    Gene ID: 11078, updated on 11-May-2012
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    Summary

    Official Symbol
    TRIOBPprovided by HGNC
    Official Full Name
    TRIO and F-actin binding proteinprovided by HGNC
    Primary source
    HGNC:17009
    Locus tag
    HRIHFB2122
    See related
    Ensembl:ENSG00000100106; HPRD:11028; MIM:609761; Vega:OTTHUMG00000150657
    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
    TARA; DFNB28; dJ37E16.4; HRIHFB2122; FLJ39315; KIAA1662
    Summary
    This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]
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    Genomic context

    Location :
    22q13.1
    Sequence :
    Chromosome: 22; NC_000022.10 (38092995..38172563)
    See TRIOBP in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene lectin, galactoside-binding, soluble, 1 Neighboring gene nucleolar protein 12 Neighboring gene H1 histone family, member 0 Neighboring gene glycine C-acetyltransferase

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.
    2. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Hutchins JR, et al. Science, 2010 Apr 30. PMID 20360068.
    3. Antimitotic effect of the retinoid 4-oxo-fenretinide through inhibition of tubulin polymerization: a novel mechanism of retinoid growth-inhibitory activity. Appierto V, et al. Mol Cancer Ther, 2009 Dec. PMID 19996280.
    4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121.
    5. The E3 ubiquitin ligase HECTD3 regulates ubiquitination and degradation of Tara. Yu J, et al. Biochem Biophys Res Commun, 2008 Mar 21. PMID 18194665.

    See all (25) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Data show that 4-oxo-4-HPR inhibited tubulin polymerization and modulated gene expression of spindle aberration associated genes Kif 1C, Kif 2A, Eg5, Tara, tankyrase-1, centractin, and TOGp.
      Title: Antimitotic effect of the retinoid 4-oxo-fenretinide through inhibition of tubulin polymerization: a novel mechanism of retinoid growth-inhibitory activity.
    4. All these findings suggest that HECTD3 may facilitate cell cycle progression via regulating ubiquitination and degradation of Tara.
      Title: The E3 ubiquitin ligase HECTD3 regulates ubiquitination and degradation of Tara.
    5. Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.
      Title: Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.
    6. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
      Title: Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
    Submit: New GeneRIF Correction
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Deafness, autosomal recessive 28

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9H2D6 P08670 VIM    HPRD  PubMed  
    BioGRID:116261 BioGRID:122781 HECTD3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:116261 BioGRID:202250 Plk1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116261 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:116261 BioGRID:113272 VIM    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Potential readthrough

    Included gene: NOL12

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP-Rho binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    myosin II binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    actin modification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    barbed-end actin filament capping NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    TRIO and F-actin-binding protein
    Names
    TRIO and F-actin-binding protein
    protein Tara
    tara-like protein
    trio-associated repeat on actin
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    NCBI Reference Sequences (RefSeq)

    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_012857.1 RefSeqGene

      Range
      5001..84569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039141.2 → NP_001034230.1  TRIO and F-actin-binding protein isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents the longest transcript and encodes the longest protein (isoform 6).
      Source sequence(s)
      AW444985, DA790674, DQ228005, Z83844
      Consensus CDS
      CCDS43015.1
      UniProtKB/Swiss-Prot
      Q9H2D6
      Related
      ENSP00000384312, OTTHUMP00000198149, ENST00000406386, OTTHUMT00000319439
      Conserved Domains (5) summary
      COG1196
      Location:2167 – 2365
      Blast Score: 127
      Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
      pfam04514
      Location:1977 – 2113
      Blast Score: 97
      BTV_NS2; Bluetongue virus non-structural protein NS2
      pfam05110
      Location:255 – 721
      Blast Score: 96
      AF-4; AF-4 proto-oncoprotein
      cd00821
      Location:1781 – 1885
      Blast Score: 174
      PH; Pleckstrin homology (PH) domain
      PTZ00395
      Location:582 – 983
      Blast Score: 96
      PTZ00395; Sec24-related protein; Provisional

    2. NM_007032.5 → NP_008963.3  TRIO and F-actin-binding protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 6. The resulting isoform (1) has a shorter N-terminus when compared to isoform 6.
      Source sequence(s)
      AW444985, BC003618, BQ880866, DQ228003, Z83844
      Consensus CDS
      CCDS43016.1
      UniProtKB/TrEMBL
      F8W6V6
      UniProtKB/Swiss-Prot
      Q9H2D6
      Related
      ENSP00000386026, OTTHUMP00000198153, ENST00000403663, OTTHUMT00000319444
      Conserved Domains (3) summary
      pfam04514
      Location:264 – 400
      Blast Score: 95
      BTV_NS2; Bluetongue virus non-structural protein NS2
      TIGR02168
      Location:455 – 652
      Blast Score: 100
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd00821
      Location:93 – 172
      Blast Score: 157
      PH; Pleckstrin homology (PH) domain

    3. NM_138632.2 → NP_619538.2  TRIO and F-actin-binding protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and coding region (compared to variant 6), resulting in a protein that has shorter and distinct N- and C-termini when it is compared to isoform 6.
      Source sequence(s)
      BC003618, BC022200, BQ880866, BU621193
      Consensus CDS
      CCDS33644.1
      UniProtKB/TrEMBL
      F2Z2W0
      UniProtKB/Swiss-Prot
      Q9H2D6
      Related
      ENSP00000383913, OTTHUMP00000198152, ENST00000407319, OTTHUMT00000319443
      Conserved Domains (2) summary
      pfam04514
      Location:264 – 425
      Blast Score: 92
      BTV_NS2; Bluetongue virus non-structural protein NS2
      cd00821
      Location:93 – 172
      Blast Score: 163
      PH; Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p5 Primary Assembly

      Range
      38092995..38172563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      21059927..21139806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic CH471095.1 EAW60181.1
      EAW60182.1
      EAW60183.1
      EAW60184.1
      EAW60185.1
      EAW60186.1
    genomic Z83844.5 CAQ09783.1
      CAQ09784.1
      CAQ09785.1
      CAQ09786.1
      CAQ09787.1
      CAQ09788.1
      CAQ09789.1
      CAQ09790.1
    mRNA AB015343.1 BAA34800.1
    mRNA AF281030.1 AAG44841.1
    mRNA AK096634.2 None
    mRNA AL713698.1 CAD28497.1
    mRNA AW444985.1 None
    mRNA BC003618.2 AAH03618.1
    mRNA BC004303.1 AAH04303.1
    mRNA BC013278.2 AAH13278.2
    mRNA BC022200.1 None
    mRNA BM682463.1 None
    mRNA BQ880866.1 None
    mRNA BU621193.1 None
    mRNA BU675400.1 None
    mRNA BX342673.2 None
    mRNA DA790674.1 None
    mRNA DQ228003.1 ABB59559.1
    mRNA DQ228004.1 ABB59560.1
    mRNA DQ228005.1 ABB59561.1
    other-genetic AM392748.1 CAL37626.1
    other-genetic AM392798.1 CAL37676.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TCM3 GenPept UniProtKB/TrEMBL:Q8TCM3
    Q9H2D6.3 GenPept UniProtKB/Swiss-Prot:Q9H2D6
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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