TTC5 (tetratricopeptide repeat domain 5)

2008-07-01  

Identity

HGNC
TTC5
LOCATION
14q11.2
LOCUSID
91875
ALIAS
NEDCAFD,Strap

Other Information

Locus ID:

NCBI: 91875
HGNC: 19274
Ensembl: ENSG00000136319

Variants:

dbSNP: 91875
ClinVar: 91875
TCGA: ENSG00000136319
COSMIC: TTC5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136319ENST00000258821Q8N0Z6
ENSG00000136319ENST00000383029H9KV81
ENSG00000136319ENST00000553828G3V3I6

Expression (GTEx)

0
5
10
15
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
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through MethylationREACTOMER-HSA-6804760

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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
356703792022TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.3
356703792022TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.3
324398092021Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.2
349479952021Evaluation of the Role of p53 Tumour Suppressor Posttranslational Modifications and TTC5 Cofactor in Lung Cancer.3
324398092021Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.2
349479952021Evaluation of the Role of p53 Tumour Suppressor Posttranslational Modifications and TTC5 Cofactor in Lung Cancer.3
317278552020TTC5 mediates autoregulation of tubulin via mRNA degradation.47
317278552020TTC5 mediates autoregulation of tubulin via mRNA degradation.47
316481662019TRIP13 interference inhibits the proliferation and metastasis of thyroid cancer cells through regulating TTC5/p53 pathway and epithelial-mesenchymal transition related genes expression.2
316481662019TRIP13 interference inhibits the proliferation and metastasis of thyroid cancer cells through regulating TTC5/p53 pathway and epithelial-mesenchymal transition related genes expression.2
235590082013TTC5 is required to prevent apoptosis of acute myeloid leukemia stem cells.6
240919412013Human TTC5, a novel tetratricopeptide repeat domain containing gene, activates p53 and inhibits AP-1 pathway.3
235590082013TTC5 is required to prevent apoptosis of acute myeloid leukemia stem cells.6
240919412013Human TTC5, a novel tetratricopeptide repeat domain containing gene, activates p53 and inhibits AP-1 pathway.3
211478502011Regulation of glucocorticoid receptor activity by a stress responsive transcriptional cofactor.15

Citation

Dessen P

TTC5 (tetratricopeptide repeat domain 5)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50198/ttc5-(tetratricopeptide-repeat-domain-5)