InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CTC1

Summary

InnateDB Protein

IDBP-28430.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CTC1

Protein Name

CTS telomere maintenance complex component 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000313759

InnateDB Gene

IDBG-28428 (CTC1)

Protein Structure

UniProt Annotation

Function

Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites. {ECO:0000269PubMed:19854130, ECO:0000269PubMed:19854131}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:19854130}. Chromosome, telomere {ECO:0000269PubMed:19854130}. Note=A transmembrane region is predicted by sequence analysis tools (ESKW, MEMSAT and Phobius); however, given the telomeric localization of the protein, the relevance of the transmembrane region is unsure in vivo.

Disease Associations

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]: An autosomal recessive pleiomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia. {ECO:0000269PubMed:22267198, ECO:0000269PubMed:22387016}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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