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

    Gene ID: 11078, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TRIOBPprovided by HGNC
    Official Full Name
    TRIO and F-actin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:17009
    See related
    Ensembl:ENSG00000100106 MIM:609761; AllianceGenome:HGNC:17009
    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; TAP68; DFNB28; dJ37E16.4; HRIHFB2122
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 8.0), placenta (RPKM 7.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRIOBP in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37697048..37776556)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38158316..38238088)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38093055..38172563)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38073459-38074269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38077520-38078020 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38081369-38082310 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38082311-38083251 Neighboring gene galectin 1 Neighboring gene nucleolar protein 12 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:38108187-38108370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38121829-38122330 Neighboring gene uncharacterized LOC124905115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38136652-38137169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38137170-38137686 Neighboring gene uncharacterized LOC102724378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13697 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38147547-38148746 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38150829-38152028 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:38153498-38153662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38158448-38158948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38177743-38178242 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 8034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38201632-38202327 Neighboring gene H1.0 linker histone

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment. Wesdorp M, et al. Hear Res, 2017 Apr. PMID 28089734
    2. A putative modular domain present in diverse signaling proteins. Mayer BJ, et al. Cell, 1993 May 21. PMID 8500161
    3. The actin-bundling protein TRIOBP-4 and -5 promotes the motility of pancreatic cancer cells. Bao J, et al. Cancer Lett, 2015 Jan 28. PMID 25130170
    4. Aggregation of the protein TRIOBP-1 and its potential relevance to schizophrenia. Bradshaw NJ, et al. PLoS One, 2014. PMID 25333879, Free PMC Article
    5. An unpredicted aggregation-critical region of the actin-polymerizing protein TRIOBP-1/Tara, determined by elucidation of its domain structure. Bradshaw NJ, et al. J Biol Chem, 2017 Jun 9. PMID 28438837, Free PMC Article

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TRIOBP modulates beta-catenin signaling by regulation of miR-29b in idiopathic pulmonary fibrosis.
      Title: TRIOBP modulates β-catenin signaling by regulation of miR-29b in idiopathic pulmonary fibrosis.
    2. SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY.
      Title: SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY.
    3. TRIOBP-1 Protein Aggregation Exists in Both Major Depressive Disorder and Schizophrenia, and Can Occur through Two Distinct Regions of the Protein.
      Title: TRIOBP-1 Protein Aggregation Exists in Both Major Depressive Disorder and Schizophrenia, and Can Occur through Two Distinct Regions of the Protein.
    4. Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
      Title: Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
    5. TRIOBP-1 overexpression caused intracellular co-sequestration of hERG signal, reduced native IKr and disrupted action potential repolarization.
      Title: Localization and functional consequences of a direct interaction between TRIOBP-1 and hERG proteins in the heart.
    6. roles of TRIO and F-actin-binding protein in human diseases
      Title: Emerging roles of TRIO and F-actin-binding protein in human diseases.
    7. Results reveal that Tara forms a functional complex with Ndel1 and alters its intracellular distribution. The Ndel1-Tara complex plays a role in regulating actin cytoskeleton organization, which is critical for cell migration.
      Title: Regulation of the actin cytoskeleton by the Ndel1-Tara complex is critical for cell migration.
    8. Case Reports: novel TRIOBP mutations associated with moderate, stable hereditary hearing impairment.
      Title: Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.
    9. Based on whole exome analysis, we identified two TRIOBP pathogenic variants (c.802_805delCAGG, p.Gln268Leufs*610 and c.5014G>T, p.Gly1672*, the first of which was novel) causative of nonsyndromic, peri- to postlingual, moderate-to-severe hearing loss in three siblings from a Polish family.
      Title: Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.
    10. TRIOBP-1 aggregation, therefore, appears to occur through one or more specific cellular mechanisms, which therefore have the potential to be of physiological relevance for the biological process underlying the development of chronic mental illness.
      Title: An unpredicted aggregation-critical region of the actin-polymerizing protein TRIOBP-1/Tara, determined by elucidation of its domain structure.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 28
    MedGen: C1853276 OMIM: 609823 GeneReviews: Genetic Hearing Loss Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: NOL12

    Homology

    Clone Names

    • FLJ39315, KIAA1662

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables myosin II binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin modification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in auditory receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in barbed-end actin filament capping NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of substrate adhesion-dependent cell spreading IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of substrate adhesion-dependent cell spreading IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in actin cytoskeleton NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in focal adhesion HDA PubMed 
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stereocilium base IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TRIO and F-actin-binding protein
    Names
    TRF1-associated protein of 68 kDa
    protein Tara
    tara-like protein
    trio-associated repeat on actin

    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

    1. NG_012857.1 RefSeqGene

      Range
      5061..84569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039141.3 → NP_001034230.1  TRIO and F-actin-binding protein isoform 6

      See identical proteins and their annotated locations for NP_001034230.1

      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
      B1AHD4, B1AHD7, F2Z2W0, F8W6V6, O94797, Q2PZW8, Q2Q3Z9, Q2Q400, Q5R3M6, Q96DW1, Q9BT77, Q9BTL7, Q9BY98, Q9H2D6, Q9Y3L4
      UniProtKB/TrEMBL
      A0A1S5UZ31
      Related
      ENSP00000496394.1, ENST00000644935.1
      Conserved Domains (7) summary
      cd13275
      Location:1781 → 1895
      PH_M-RIP; Myosin phosphatase-RhoA Interacting Protein Pleckstrin homology (PH) domain
      pfam00169
      Location:1781 → 1887
      PH; PH domain
      pfam09727
      Location:2068 → 2203
      CortBP2; Cortactin-binding protein-2
      cd16269
      Location:2173 → 2186
      GBP_C; coiled coil [structural motif]
      cl12013
      Location:2065 → 2145
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl20817
      Location:2107 → 2205
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23748
      Location:2159 → 2309
      DUF3585; Protein of unknown function (DUF3585)

    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/Swiss-Prot
      Q9H2D6
      Related
      ENSP00000386026.2, ENST00000403663.6
      Conserved Domains (4) summary
      cd13275
      Location:68 → 182
      PH_M-RIP; Myosin phosphatase-RhoA Interacting Protein Pleckstrin homology (PH) domain
      pfam00169
      Location:68 → 174
      PH; PH domain
      cd16269
      Location:456 → 467
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:394 → 492
      GBP_C; Guanylate-binding protein, C-terminal 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/Swiss-Prot
      Q9H2D6
      Related
      ENSP00000383913.2, ENST00000407319.7
      Conserved Domains (2) summary
      cd13275
      Location:68 → 182
      PH_M-RIP; Myosin phosphatase-RhoA Interacting Protein Pleckstrin homology (PH) domain
      pfam00169
      Location:68 → 174
      PH; PH domain

    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
      37697048..37776556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      38158316..38238088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H2D6.3 GenPept UniProtKB/Swiss-Prot:Q9H2D6

    Gene LinkOut

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

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