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
TRIP11
LOCATION
14q32.12
LOCUSID
9321
ALIAS
ACG1A,CEV14,GMAP-210,GMAP210,ODCD,ODCD1,TRIP-11,TRIP230
FUSION GENES
Show Gene Fusions

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
t(5;14)(q33;q32)/AML --> TRIP11 - PDGFRB
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
337460402021Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.2
340572712021Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.2
337460402021Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.2
340572712021Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.2
319036762020Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.5
319036762020Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.5
305186892018A common pathomechanism in GMAP-210- and LBR-related diseases.2
305186892018A common pathomechanism in GMAP-210- and LBR-related diseases.2
290226452017The significance of TRIP11 and T3 signalling pathway in renal cancer progression and survival of patients.3
290226452017The significance of TRIP11 and T3 signalling pathway in renal cancer progression and survival of patients.3
274587992016A filter at the entrance of the Golgi that selects vesicles according to size and bulk lipid composition.31
274587992016A filter at the entrance of the Golgi that selects vesicles according to size and bulk lipid composition.31
254731152015Coupling of vesicle tethering and Rab binding is required for in vivo functionality of the golgin GMAP-210.33
257170012015The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway.35
254731152015Coupling 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/gene-explorer/gene-fusions/case-report-explorer/