TRIP11 (thyroid hormone receptor interactor 11)
1998-02-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
14q32.12
LOCUSID
ALIAS
ACG1A,CEV14,GMAP-210,GMAP210,ODCD,ODCD1,TRIP-11,TRIP230
FUSION GENES
DNA/RNA
Transcription
major transcripts: 7, 9 and 10.5 kb; coding sequence: 2.2 kb
Proteins
Description
729 amino acids; contains a N-term leucine zipper and a C-term
putative thyroid hormone receptor interacting domain
Expression
is wide; high expression in heart, muscle, pancreas; found
expressed in hematopoietic cell lines
Function
may be a transcriptional factor
Implicated in
Entity name
Disease
poorly known: 1 case of AML
Cytogenetics
found as an additional anomaly
Hybrid gene
5 CEV14 - 3 PDGFRb
Fusion protein
leucine zipper from CEV14 fused to the transmembrane domain and
the Tyr kinase domain of PDGFRb
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9373237 | 1997 | Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. | Abe A et al |
Other Information
Locus ID:
NCBI: 9321
MIM: 604505
HGNC: 12305
Ensembl: ENSG00000100815
Variants:
dbSNP: 9321
ClinVar: 9321
TCGA: ENSG00000100815
COSMIC: TRIP11
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100815 | ENST00000267622 | Q15643 |
| ENSG00000100815 | ENST00000554357 | H0YJ97 |
| ENSG00000100815 | ENST00000555516 | G3V4R7 |
| ENSG00000100815 | ENST00000557017 | H0YJI2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33746040 | 2021 | Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants. | 2 |
| 34057271 | 2021 | Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. | 2 |
| 33746040 | 2021 | Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants. | 2 |
| 34057271 | 2021 | Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. | 2 |
| 31903676 | 2020 | Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. | 5 |
| 31903676 | 2020 | Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. | 5 |
| 30518689 | 2018 | A common pathomechanism in GMAP-210- and LBR-related diseases. | 2 |
| 30518689 | 2018 | A common pathomechanism in GMAP-210- and LBR-related diseases. | 2 |
| 29022645 | 2017 | The significance of TRIP11 and T3 signalling pathway in renal cancer progression and survival of patients. | 3 |
| 29022645 | 2017 | The significance of TRIP11 and T3 signalling pathway in renal cancer progression and survival of patients. | 3 |
| 27458799 | 2016 | A filter at the entrance of the Golgi that selects vesicles according to size and bulk lipid composition. | 31 |
| 27458799 | 2016 | A filter at the entrance of the Golgi that selects vesicles according to size and bulk lipid composition. | 31 |
| 25473115 | 2015 | Coupling of vesicle tethering and Rab binding is required for in vivo functionality of the golgin GMAP-210. | 33 |
| 25717001 | 2015 | The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway. | 35 |
| 25473115 | 2015 | Coupling of vesicle tethering and Rab binding is required for in vivo functionality of the golgin GMAP-210. | 33 |
Citation
Jean-Loup Huret
TRIP11 (thyroid hormone receptor interactor 11)
Atlas Genet Cytogenet Oncol Haematol. 1998-02-01
Online version: http://atlasgeneticsoncology.org/gene/96/trip11-(thyroid-hormone-receptor-interactor-11)
