TTC3 (tetratricopeptide repeat domain 3)

2014-11-01  

Identity

HGNC
LOCATION
21q22.13
LOCUSID
ALIAS
DCRR1,RNF105,TPRDIII
FUSION GENES

Other Information

Locus ID:

NCBI: 7267
MIM: 602259
HGNC: 12393
Ensembl: ENSG00000182670

Variants:

dbSNP: 7267
ClinVar: 7267
TCGA: ENSG00000182670
COSMIC: TTC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182670ENST00000354749P53804
ENSG00000182670ENST00000355666P53804
ENSG00000182670ENST00000399010A8MT23
ENSG00000182670ENST00000399017P53804
ENSG00000182670ENST00000411496H7BZ57
ENSG00000182670ENST00000414818H7C3Z1
ENSG00000182670ENST00000418766E9PMP8
ENSG00000182670ENST00000428693H7C097
ENSG00000182670ENST00000438055E9PCE7
ENSG00000182670ENST00000450533E9PMS7
ENSG00000182670ENST00000540756B4DSZ9

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
376778642023An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.0
376778642023An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.0
336387662022TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment.8
336387662022TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment.8
336264942021Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.5
336264942021Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.5
302033232019Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus.4
306968092019TTC3 contributes to TGF-β(1)-induced epithelial-mesenchymal transition and myofibroblast differentiation, potentially through SMURF2 ubiquitylation and degradation.19
302033232019Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus.4
306968092019TTC3 contributes to TGF-β(1)-induced epithelial-mesenchymal transition and myofibroblast differentiation, potentially through SMURF2 ubiquitylation and degradation.19
275864452016An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome.32
275864452016An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome.32
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
200599502009The E3 ligase TTC3 facilitates ubiquitination and degradation of phosphorylated Akt.75

Citation

Dessen P

TTC3 (tetratricopeptide repeat domain 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75282/case-report-explorer/css/gene-fusions-explorer/