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TRIO trio Rho guanine nucleotide exchange factor [ Homo sapiens (human) ]

Gene ID: 7204, updated on 1-Jun-2020

Summary

Official Symbol
TRIOprovided by HGNC
Official Full Name
trio Rho guanine nucleotide exchange factorprovided by HGNC
Primary source
HGNC:HGNC:12303
See related
Ensembl:ENSG00000038382 MIM:601893
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
tgat; MEBAS; MRD44; MRD63; ARHGEF23
Summary
This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in brain (RPKM 8.0), spleen (RPKM 6.0) and 25 other tissues See more
Orthologs

Genomic context

See TRIO in Genome Data Viewer
Location:
5p15.2
Exon count:
63
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (14143342..14510204)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (14143817..14510313)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L29 pseudogene 13 Neighboring gene meiotic recombination hotspot J Neighboring gene dynein axonemal heavy chain 5 Neighboring gene small nucleolar RNA, C/D box 170 Neighboring gene pleckstrin homology domain containing A1 pseudogene Neighboring gene OTU deubiquitinase with linear linkage specificity like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-01-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2018-01-24)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
NHGRI GWA Catalog
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42780

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
Rho guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
axon guidance IEA
Inferred from Electronic Annotation
more info
 
central nervous system development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
transmembrane receptor protein tyrosine phosphatase signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
triple functional domain protein
Names
PTPRF-interacting protein
triple functional domain (PTPRF interacting)
NP_009049.2
XP_011512409.1
XP_011512410.1
XP_011512411.1
XP_011512412.1
XP_016865290.1
XP_016865291.1
XP_016865292.1

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_052962.1 RefSeqGene

    Range
    4641..371503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007118.4NP_009049.2  triple functional domain protein

    See identical proteins and their annotated locations for NP_009049.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
    Source sequence(s)
    AC010419, AF091395, AI478154, AK131423, BC017268, BC035585, BF058117, BQ184284, BQ691537, U42390
    Consensus CDS
    CCDS3883.1
    UniProtKB/Swiss-Prot
    O75962
    Related
    ENSP00000339299.4, ENST00000344204.9
    Conserved Domains (14) summary
    smart00150
    Location:11431243
    SPEC; Spectrin repeats
    cd11852
    Location:16591718
    SH3_Kalirin_1; First Src homology 3 domain of the RhoGEF kinase, Kalirin
    cd11853
    Location:25552613
    SH3_Kalirin_2; Second Src homology 3 domain of the RhoGEF kinase, Kalirin
    smart00220
    Location:27963050
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00516
    Location:69204
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00160
    Location:19702143
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd00176
    Location:567783
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07679
    Location:26852776
    I-set; Immunoglobulin I-set domain
    cd13240
    Location:14721594
    PH1_Kalirin_Trio_like; Triple functional domain pleckstrin homology pleckstrin homology (PH) domain, repeat 1
    cd13241
    Location:21482286
    PH2_Kalirin_Trio_p63RhoGEF; p63RhoGEF pleckstrin homology (PH) domain, repeat 2
    cd14113
    Location:27883050
    STKc_Trio_C; C-terminal kinase domain of the Large Serine/Threonine Kinase and Rho Guanine Nucleotide Exchange Factor, Triple functional domain protein
    pfam00169
    Location:21752271
    PH; PH domain
    pfam16609
    Location:17151972
    SH3-RhoG_link; SH3-RhoGEF linking unstructured region
    cl11960
    Location:26992776
    Ig; Immunoglobulin domain

RNA

  1. NR_134469.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC010419, AF091395, AI478154, AK131423, BC017268, BC035585, BF058117, BQ184284, BQ691537, U42390
    Related
    ENST00000512070.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    14143342..14510204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009802.1XP_016865291.1  triple functional domain protein isoform X6

    Related
    ENSP00000426342.2, ENST00000513206.5
  2. XM_017009801.1XP_016865290.1  triple functional domain protein isoform X1

  3. XM_011514110.3XP_011512412.1  triple functional domain protein isoform X5

    See identical proteins and their annotated locations for XP_011512412.1

    UniProtKB/Swiss-Prot
    O75962
    Conserved Domains (14) summary
    smart00150
    Location:10841184
    SPEC; Spectrin repeats
    cd11852
    Location:16001659
    SH3_Kalirin_1; First Src homology 3 domain of the RhoGEF kinase, Kalirin
    cd11853
    Location:24962554
    SH3_Kalirin_2; Second Src homology 3 domain of the RhoGEF kinase, Kalirin
    smart00220
    Location:27372991
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00516
    Location:10145
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00160
    Location:19112084
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd00176
    Location:508724
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07679
    Location:26262717
    I-set; Immunoglobulin I-set domain
    cd13240
    Location:14131535
    PH1_Kalirin_Trio_like; Triple functional domain pleckstrin homology pleckstrin homology (PH) domain, repeat 1
    cd13241
    Location:20892227
    PH2_Kalirin_Trio_p63RhoGEF; p63RhoGEF pleckstrin homology (PH) domain, repeat 2
    cd14113
    Location:27292991
    STKc_Trio_C; C-terminal kinase domain of the Large Serine/Threonine Kinase and Rho Guanine Nucleotide Exchange Factor, Triple functional domain protein
    pfam00169
    Location:21162212
    PH; PH domain
    pfam16609
    Location:16561913
    SH3-RhoG_link; SH3-RhoGEF linking unstructured region
    cl11960
    Location:26402717
    Ig; Immunoglobulin domain
  4. XM_011514108.1XP_011512410.1  triple functional domain protein isoform X3

    Conserved Domains (14) summary
    smart00150
    Location:11041204
    SPEC; Spectrin repeats
    cd11852
    Location:16201679
    SH3_Kalirin_1; First Src homology 3 domain of the RhoGEF kinase, Kalirin
    cd11853
    Location:25162574
    SH3_Kalirin_2; Second Src homology 3 domain of the RhoGEF kinase, Kalirin
    smart00220
    Location:27573011
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00516
    Location:30165
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00160
    Location:19312104
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd00176
    Location:528744
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07679
    Location:26462737
    I-set; Immunoglobulin I-set domain
    cd13240
    Location:14331555
    PH1_Kalirin_Trio_like; Triple functional domain pleckstrin homology pleckstrin homology (PH) domain, repeat 1
    cd13241
    Location:21092247
    PH2_Kalirin_Trio_p63RhoGEF; p63RhoGEF pleckstrin homology (PH) domain, repeat 2
    cd14113
    Location:27493011
    STKc_Trio_C; C-terminal kinase domain of the Large Serine/Threonine Kinase and Rho Guanine Nucleotide Exchange Factor, Triple functional domain protein
    pfam00169
    Location:21362232
    PH; PH domain
    pfam16609
    Location:16761933
    SH3-RhoG_link; SH3-RhoGEF linking unstructured region
    cl11960
    Location:26602737
    Ig; Immunoglobulin domain
  5. XM_011514109.3XP_011512411.1  triple functional domain protein isoform X4

    Conserved Domains (14) summary
    smart00150
    Location:10941194
    SPEC; Spectrin repeats
    cd11852
    Location:16101669
    SH3_Kalirin_1; First Src homology 3 domain of the RhoGEF kinase, Kalirin
    cd11853
    Location:25062564
    SH3_Kalirin_2; Second Src homology 3 domain of the RhoGEF kinase, Kalirin
    smart00220
    Location:27473001
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00516
    Location:20155
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00160
    Location:19212094
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd00176
    Location:518734
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07679
    Location:26362727
    I-set; Immunoglobulin I-set domain
    cd13240
    Location:14231545
    PH1_Kalirin_Trio_like; Triple functional domain pleckstrin homology pleckstrin homology (PH) domain, repeat 1
    cd13241
    Location:20992237
    PH2_Kalirin_Trio_p63RhoGEF; p63RhoGEF pleckstrin homology (PH) domain, repeat 2
    cd14113
    Location:27393001
    STKc_Trio_C; C-terminal kinase domain of the Large Serine/Threonine Kinase and Rho Guanine Nucleotide Exchange Factor, Triple functional domain protein
    pfam00169
    Location:21262222
    PH; PH domain
    pfam16609
    Location:16661923
    SH3-RhoG_link; SH3-RhoGEF linking unstructured region
    cl11960
    Location:26502727
    Ig; Immunoglobulin domain
  6. XM_011514107.2XP_011512409.1  triple functional domain protein isoform X2

    Conserved Domains (14) summary
    smart00150
    Location:11221222
    SPEC; Spectrin repeats
    cd11852
    Location:16381697
    SH3_Kalirin_1; First Src homology 3 domain of the RhoGEF kinase, Kalirin
    cd11853
    Location:25342592
    SH3_Kalirin_2; Second Src homology 3 domain of the RhoGEF kinase, Kalirin
    smart00220
    Location:27753029
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00516
    Location:48183
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00160
    Location:19492122
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd00176
    Location:546762
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07679
    Location:26642755
    I-set; Immunoglobulin I-set domain
    cd13240
    Location:14511573
    PH1_Kalirin_Trio_like; Triple functional domain pleckstrin homology pleckstrin homology (PH) domain, repeat 1
    cd13241
    Location:21272265
    PH2_Kalirin_Trio_p63RhoGEF; p63RhoGEF pleckstrin homology (PH) domain, repeat 2
    cd14113
    Location:27673029
    STKc_Trio_C; C-terminal kinase domain of the Large Serine/Threonine Kinase and Rho Guanine Nucleotide Exchange Factor, Triple functional domain protein
    pfam00169
    Location:21542250
    PH; PH domain
    pfam16609
    Location:16941951
    SH3-RhoG_link; SH3-RhoGEF linking unstructured region
    cl11960
    Location:26782755
    Ig; Immunoglobulin domain
  7. XM_017009803.1XP_016865292.1  triple functional domain protein isoform X7

RNA

  1. XR_001742236.2 RNA Sequence

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