Homo sapiens Gene: CTC1
Summary
InnateDB Gene IDBG-28428.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CTC1
Gene Name CTS telomere maintenance complex component 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000178971
Encoded Proteins
CTS telomere maintenance complex component 1
CTS telomere maintenance complex component 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:8226873-8248044
Strand Reverse strand
Band p13.1
Transcripts
ENST00000315684 ENSP00000313759
ENST00000449476 ENSP00000396018
ENST00000579066
ENST00000578240
ENST00000583254
ENST00000578537 ENSP00000463230
ENST00000578441
ENST00000584842
ENST00000580299 ENSP00000462607
ENST00000581671
ENST00000581967
ENST00000581729 ENSP00000462720
ENST00000584439
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003697 single-stranded DNA binding
GO:0005515 protein binding
Biological Process
GO:0000723 telomere maintenance
GO:0006974 cellular response to DNA damage stimulus
GO:0007568 aging
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0010833 telomere maintenance via telomere lengthening
GO:0035264 multicellular organism growth
GO:0045740 positive regulation of DNA replication
GO:0048146 positive regulation of fibroblast proliferation
GO:0048536 spleen development
GO:0048538 thymus development
GO:0048539 bone marrow development
GO:0051276 chromosome organization
GO:0071425 hematopoietic stem cell proliferation
GO:0090399 replicative senescence
Cellular Component
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0070188 Stn1-Ten1 complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL J3KSR1
UniProt Splice Variant
Entrez Gene 80169
UniGene Hs.156055
RefSeq NM_025099 XM_006721579
HUGO HGNC:26169
OMIM 613129
CCDS CCDS42259
HPRD 07980
IMGT
EMBL AC135178
GenPept
RNA Seq Atlas 80169