InnateDB Protein
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IDBP-367490.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CTC1
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Protein Name
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CTS telomere maintenance complex component 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000396018
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InnateDB Gene
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IDBG-28428 (CTC1)
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Protein Structure
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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}.
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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.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q2NKJ3
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PhosphoSite |
PhosphoSite-Q2NKJ3
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
80169
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UniGene |
Hs.156055
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RefSeq |
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HUGO |
HGNC:26169
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OMIM |
613129
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CCDS |
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HPRD |
07980
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IMGT |
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EMBL |
AC135178
AK025823
AK091077
AL831955
BC026057
BC110373
BC111783
DQ451688
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GenPept |
AAH26057
AAI10374
AAI11784
ABE02809
BAB15247
BAG52278
CAD38600
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