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

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; 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: mouse all
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Genomic context

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	not available
Odontochondrodysplasia 1 MedGen: C5542277 OMIM: 184260 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH17544 (e-PCR)
- UniSTS:41537

STS-J04802 (e-PCR)
- UniSTS:34634

D15S1477 (e-PCR)
- UniSTS:474482

RH78915 (e-PCR)
- UniSTS:2979

RH17653 (e-PCR)
- UniSTS:55980

RH41983 (e-PCR)
- UniSTS:82132

TRIP11_7940 (e-PCR)
- UniSTS:467957

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

NG_016970.1 RefSeqGene

Range

5001..79069

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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