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TRIP11 thyroid hormone receptor interactor 11 [ Homo sapiens (human) ]

Gene ID: 9321, updated on 5-Apr-2020

Summary

Official Symbol
TRIP11provided by HGNC
Official Full Name
thyroid hormone receptor interactor 11provided by HGNC
Primary source
HGNC:HGNC:12305
See related
Ensembl:ENSG00000100815 MIM:604505
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
ODCD; ACG1A; CEV14; GMAP210; TRIP-11; TRIP230; GMAP-210
Summary
This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in thyroid (RPKM 9.3), kidney (RPKM 6.5) and 25 other tissues See more
Orthologs

Genomic context

See TRIP11 in Genome Data Viewer
Location:
14q32.12
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (91965991..92040134, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92434243..92506484, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene tandem C2 domains, nuclear Neighboring gene fibulin 5 Neighboring gene prothymosin alpha pseudogene 7 Neighboring gene ataxin 3 repeat instability region Neighboring gene ataxin 3 Neighboring gene NADH:ubiquinone oxidoreductase subunit B1

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

Associated conditions

Description Tests
Achondrogenesis, type IA
MedGen: C0265273 OMIM: 200600 GeneReviews: Not available
Compare labs
Goldblatt hypertension
MedGen: C2745953 OMIM: 184260 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification of ten loci associated with height highlights new biological pathways in human growth.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Golgi ribbon formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cartilage development IMP
Inferred from Mutant Phenotype
more info
PubMed 
chondrocyte differentiation involved in endochondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
vesicle tethering to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cilium IEA
Inferred from Electronic Annotation
more info
 
cis-Golgi network IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
 
inner acrosomal membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
outer acrosomal membrane IEA
Inferred from Electronic Annotation
more info
 
transport vesicle TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
thyroid receptor-interacting protein 11
Names
Golgi-microtubule-associated protein of 210 kDa
TR-interacting protein 11
clonal evolution-related gene on chromosome 14 protein
golgi-associated microtubule-binding protein 210

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_016970.1 RefSeqGene

    Range
    5001..79069
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321851.1NP_001308780.1  thyroid receptor-interacting protein 11 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL049872
    Conserved Domains (3) summary
    COG1196
    Location:3051074
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:9071751
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15898
    Location:602681
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
  2. NM_004239.4NP_004230.2  thyroid receptor-interacting protein 11 isoform 1

    See identical proteins and their annotated locations for NP_004230.2

    Status: REVIEWED

    Source sequence(s)
    AL049872
    Consensus CDS
    CCDS9899.1
    UniProtKB/Swiss-Prot
    Q15643
    Related
    ENSP00000267622.4, ENST00000267622.8
    Conserved Domains (3) summary
    COG1196
    Location:3061075
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:9081752
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15898
    Location:603682
    PRKG1_interact; cGMP-dependent protein kinase interacting domain

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_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    91965991..92040134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021788.2XP_016877277.1  thyroid receptor-interacting protein 11 isoform X2

    Conserved Domains (3) summary
    COG1196
    Location:23793
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:4661310
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15898
    Location:161240
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
  2. XM_017021787.2XP_016877276.1  thyroid receptor-interacting protein 11 isoform X1

    Related
    ENSP00000451032.1, ENST00000554357.5

RNA

  1. XR_943560.2 RNA Sequence

  2. XR_001750598.2 RNA Sequence

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