CTC1 (CST telomere replication complex component 1)

2016-10-01  

Identity

HGNC
CTC1
LOCATION
17p13.1
LOCUSID
80169
ALIAS
AAF-132,AAF132,C17orf68,CRMCC,tmp494178
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80169
MIM: 613129
HGNC: 26169
Ensembl: ENSG00000178971

Variants:

dbSNP: 80169
ClinVar: 80169
TCGA: ENSG00000178971
COSMIC: CTC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178971ENST00000449476Q2NKJ3
ENSG00000178971ENST00000578537J3QKT7
ENSG00000178971ENST00000580299J3KSR1
ENSG00000178971ENST00000581729J3KSZ1
ENSG00000178971ENST00000643543A0A2R8Y574
ENSG00000178971ENST00000651323Q2NKJ3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

References

Pubmed IDYearTitleCitations
384188842024CST-polymerase α-primase solves a second telomere end-replication problem.4
384188842024CST-polymerase α-primase solves a second telomere end-replication problem.4
370215552023CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.5
379785412023A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.0
370215552023CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.5
379785412023A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.0
351346162022Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology.6
358308812022Structures of the human CST-Polα-primase complex bound to telomere templates.34
358315082022Reconstitution of a telomeric replicon organized by CST.20
351346162022Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology.6
358308812022Structures of the human CST-Polα-primase complex bound to telomere templates.34
358315082022Reconstitution of a telomeric replicon organized by CST.20
330342442021Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report.5
332103172021Human CST complex protects stalled replication forks by directly blocking MRE11 degradation of nascent-strand DNA.26
337807182021CST in maintaining genome stability: Beyond telomeres.13

Citation

Dessen P

CTC1 (CST telomere replication complex component 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56248/case-report-explorer/js/lib/css/lib/dataTables.bootstrap.min.css