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

Gene ID: 11078, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37697048..37776556)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38158316..38238088)
105.20220307 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
  • 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. TRIOBP-1 Protein Aggregation Exists in Both Major Depressive Disorder and Schizophrenia, and Can Occur through Two Distinct Regions of the Protein. Zaharija B, et al. Int J Mol Sci, 2022 Sep 21. PMID 36232351, Free PMC Article
  2. Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals. Kabahuma RI, et al. Mol Genet Genomic Med, 2022 Oct. PMID 36029164, Free PMC Article
  3. Emerging roles of TRIO and F-actin-binding protein in human diseases. Park S, et al. Cell Commun Signal, 2018 Jun 11. PMID 29890989, Free PMC Article
  4. Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss. Pollak A, et al. BMC Med Genet, 2017 Dec 2. PMID 29197352, 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 (80) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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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 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 cycle IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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

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