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
198541302009RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway.162
198541312009Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes.139
227634452012The human CST complex is a terminator of telomerase activity.130
230015642012Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.93
228637752012Human CST promotes telomere duplex replication and general replication restart after fork stalling.90
222671982012Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.84
223870162012Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.53
225324222012CTC1 Mutations in a patient with dyskeratosis congenita.51
241157682013Molecular basis of telomere syndrome caused by CTC1 mutations.41
238513442013CST for the grand finale of telomere replication.28

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/ctc1