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

Gene ID: 9321, updated on 3-Nov-2024

Summary

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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; AllianceGenome:HGNC:12305
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; ODCD1; 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
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Genomic context

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See TRIP11 in Genome Data Viewer
Location:
14q32.12
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (91965991..92040059, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (86195456..86269539, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92432335..92506403, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene tandem C2 domains, nuclear Neighboring gene uncharacterized LOC124903362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8925 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92363455-92363968 Neighboring gene fibulin 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92392675-92393174 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92506403-92507190 Neighboring gene uncharacterized LOC124903363 Neighboring gene MPRA-validated peak2235 silencer Neighboring gene MPRA-validated peak2236 silencer Neighboring gene prothymosin alpha pseudogene 7 Neighboring gene ataxin 3 repeat instability region Neighboring gene ataxin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6031 Neighboring gene NANOG hESC enhancer GRCh37_chr14:92566141-92566677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92572215-92573149 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:92574354-92575164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92586481-92587470 Neighboring gene NADH:ubiquinone oxidoreductase subunit B1

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. The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway. Roboti P, et al. J Cell Sci, 2015 Apr 15. PMID 25717001, Free PMC Article
  2. Golgi localisation of GMAP210 requires two distinct cis-membrane binding mechanisms. Cardenas J, et al. BMC Biol, 2009 Aug 28. PMID 19715559, Free PMC Article
  3. Asymmetric tethering of flat and curved lipid membranes by a golgin. Drin G, et al. Science, 2008 May 2. PMID 18451304
  4. Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. Medina CTN, et al. Am J Med Genet A, 2020 Apr. PMID 31903676
  5. The significance of TRIP11 and T3 signalling pathway in renal cancer progression and survival of patients. Popławski P, et al. Endokrynol Pol, 2017. PMID 29022645

See all (96) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
    Title: Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
  2. Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
    Title: Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
  3. Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
    Title: Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
  4. A common pathogenic mechanism in GMAP-210- and LBR-related diseases attributable to defective secretory trafficking at the Golgi apparatus.
    Title: A common pathomechanism in GMAP-210- and LBR-related diseases.
  5. Decreased expressions of TRIP11, THRA, and THRB correlated with poor survival of renal cell cancer patients. Expressions of TRIP11 and HIF-1beta correlated with tumor grades.
    Title: The significance of TRIP11 and T3 signalling pathway in renal cancer progression and survival of patients.
  6. The authors conclude that the Golgi uses GMAP-210 as a filter to select transport vesicles according to their size and bulk lipid composition.
    Title: A filter at the entrance of the Golgi that selects vesicles according to size and bulk lipid composition.
  7. role for GMAP-210 in several trafficking steps at the ER-Golgi interface
    Title: The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway.
  8. GMAP-210 has a role for membrane tethering in maintaining Golgi structure and a role for Rab2 binding in linking tethering with downstream docking and fusion events at the Golgi apparatus.
    Title: Coupling of vesicle tethering and Rab binding is required for in vivo functionality of the golgin GMAP-210.
  9. Rb is present in HIF1alpha-ARNT/HIF1beta transcriptional complexes associated with TRIP230 as determined by co-immuno-precipitation, GST-pull-down and ChIP assays
    Title: A TRIP230-retinoblastoma protein complex regulates hypoxia-inducible factor-1α-mediated transcription and cancer cell invasion.
  10. identification of a mutation affecting GMAP-210 in mice, and then in humans, as the cause of a lethal skeletal dysplasia
    Title: Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Achondrogenesis, type IA
MedGen: C0265273 OMIM: 200600 GeneReviews: Not available
Compare labs
Odontochondrodysplasia 1
MedGen: C5542277 OMIM: 184260 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription coactivator activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Golgi ribbon formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cartilage development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chondrocyte differentiation involved in endochondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
involved_in ventricular septum development IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle tethering to Golgi IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in cis-Golgi network IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
  
located_in inner acrosomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in outer acrosomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in transport vesicle TAS
Traceable Author Statement
more info
  

General protein information

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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)

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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_016970.1 RefSeqGene

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

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL049872
    UniProtKB/TrEMBL
    H0YJ97
    Conserved Domains (3) summary
    COG1196
    Location:305 → 1074
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:907 → 1751
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15898
    Location:602 → 681
    PRKG1_interact; cGMP-dependent protein kinase interacting domain

  2. NM_004239.4 → NP_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
    B2RUT2, O14689, O15154, O95949, Q15643, Q6MZL5
    UniProtKB/TrEMBL
    H0YJ97
    Related
    ENSP00000267622.4, ENST00000267622.8
    Conserved Domains (4) summary
    COG1196
    Location:306 → 1075
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:908 → 1752
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10375
    Location:1774 → 1819
    GRAB; GRIP-related Arf-binding domain
    cl00081
    Location:64 → 123
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    91965991..92040059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431935.1 → XP_047287891.1  thyroid receptor-interacting protein 11 isoform X1

    Related
    ENSP00000451032.1, ENST00000554357.5

RNA

  1. XR_943560.3 RNA Sequence

  2. XR_001750598.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    86195456..86269539 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377022.1 → XP_054232997.1  thyroid receptor-interacting protein 11 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15643.3 GenPept UniProtKB/Swiss-Prot:Q15643

Gene LinkOut

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