TRIP11 (thyroid hormone receptor interactor 11)

1998-02-01   Jean-Loup Huret 

Genetics, 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

Bibliography

Pubmed IDLast YearTitleAuthors
93732371997Fusion 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 IDTranscript IDUniprot
ENSG00000100815ENST00000267622Q15643
ENSG00000100815ENST00000554357H0YJ97
ENSG00000100815ENST00000555516G3V4R7
ENSG00000100815ENST00000557017H0YJI2

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Intra-Golgi trafficREACTOMER-HSA-6811438

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184513042008Asymmetric tethering of flat and curved lipid membranes by a golgin.77
197306832009The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.59
200899712010Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.49
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.48
154858062004Recruitment of thyroid hormone receptor/retinoblastoma-interacting protein 230 by the aryl hydrocarbon receptor nuclear translocator is required for the transcriptional response to both dioxin and hypoxia.32
254731152015Coupling of vesicle tethering and Rab binding is required for in vivo functionality of the golgin GMAP-210.22
257170012015The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway.22
274587992016A filter at the entrance of the Golgi that selects vesicles according to size and bulk lipid composition.22
197155592009Golgi localisation of GMAP210 requires two distinct cis-membrane binding mechanisms.20
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19

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