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TRIP4 thyroid hormone receptor interactor 4 [ Homo sapiens (human) ]

Gene ID: 9325, updated on 13-Feb-2019

Summary

Official Symbol
TRIP4provided by HGNC
Official Full Name
thyroid hormone receptor interactor 4provided by HGNC
Primary source
HGNC:HGNC:12310
See related
Ensembl:ENSG00000103671 MIM:604501
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
ASC1; ASC-1; MDCDC; SMABF1; ZC2HC5; HsT17391
Summary
This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]
Expression
Ubiquitous expression in thyroid (RPKM 15.4), kidney (RPKM 11.6) and 25 other tissues See more
Orthologs

Genomic context

See TRIP4 in Genome Data Viewer
Location:
15q22.31
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (64387804..64455303)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (64680003..64747502)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene casein kinase 1 gamma 1 Neighboring gene PCNA clamp associated factor Neighboring gene uncharacterized LOC105370861 Neighboring gene zinc finger protein 609 Neighboring gene uncharacterized LOC107984736 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 61 Neighboring gene ribosomal protein S26 pseudogene 50

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Muscular dystrophy, congenital, davignon-chauveau type
MedGen: C4310736 OMIM: 617066 GeneReviews: Not available
not available
Spinal muscular atrophy with congenital bone fractures 1
MedGen: C4225177 OMIM: 616866 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
estrogen receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone acetyltransferase binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-like protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
intracellular estrogen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
toxin transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
activating signal cointegrator 1 complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
activating signal cointegrator 1
Names
TR-interacting protein 4
TRIP-4
thyroid receptor-interacting protein 4
zinc finger, C2HC5-type

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_046848.1 RefSeqGene

    Range
    5001..72500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321924.1NP_001308853.1  activating signal cointegrator 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate donor splice site at the 5' terminal exon, which results in translation initiation at an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK314319, BC012448, DA712387
    UniProtKB/Swiss-Prot
    Q15650
    Conserved Domains (1) summary
    cd06554
    Location:204317
    ASCH_ASC-1_like; ASC-1 homology domain, ASC-1-like subfamily. The ASCH domain, a small beta-barrel domain found in all three kingdoms of life, resembles the RNA-binding PUA domain and may also interact with RNA. ASCH has been proposed to function as an RNA-binding domain ...
  2. NM_016213.4NP_057297.2  activating signal cointegrator 1 isoform 1

    See identical proteins and their annotated locations for NP_057297.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK314319, BC012448, BG166305
    Consensus CDS
    CCDS10194.1
    UniProtKB/Swiss-Prot
    Q15650
    Related
    ENSP00000261884.3, ENST00000261884.7
    Conserved Domains (2) summary
    cd06554
    Location:434547
    ASCH_ASC-1_like; ASC-1 homology domain, ASC-1-like subfamily. The ASCH domain, a small beta-barrel domain found in all three kingdoms of life, resembles the RNA-binding PUA domain and may also interact with RNA. ASCH has been proposed to function as an RNA-binding domain ...
    pfam06221
    Location:168216
    zf-C2HC5; Putative zinc finger motif, C2HC5-type

RNA

  1. NR_135855.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK314319, BC012448, BG166305

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    64387804..64455303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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