Q2NKJ3 (CTC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 57.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: CST complex subunit CTC1 Alternative name(s): Conserved telomere maintenance component 1 HBV DNAPTP1-transactivated protein B | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1217 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.6 Ref.7 |
| Subunit structure | Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1/OBFC1. Interacts with STN1/OBFC1; the interaction is direct. Ref.6 |
| Subcellular location | Nucleus. Chromosome › telomere. 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. Ref.6 |
| Involvement in disease | 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. |
| Sequence similarities | Belongs to the CTC1 family. |
| Sequence caution | The sequence BAB15247.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAD38600.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Chromosome Nucleus Telomere |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Ligand | DNA-binding |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | positive regulation of DNA replication Inferred from sequence or structural similarity. Source: UniProtKB telomere maintenanceInferred from mutant phenotype Ref.7. Source: UniProtKB |
| Cellular_component | Stn1-Ten1 complex Inferred from sequence or structural similarity. Source: UniProtKB |
| Molecular_function | single-stranded DNA binding Inferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q2NKJ3-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q2NKJ3-2) The sequence of this isoform differs from the canonical sequence as follows: 217-251: Missing. 1053-1066: GKCTRLGSTCPTQT → APGGGWDCRSRGDL 1067-1217: Missing. | ||||||
| Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1217 | 1217 | CST complex subunit CTC1 | PRO_0000287181 | |||||
Natural variations | |||||||||
| Alternative sequence | 217 – 251 | 35 | Missing in isoform 2. | VSP_025351 | |||||
| Alternative sequence | 1053 – 1066 | 14 | GKCTR…CPTQT → APGGGWDCRSRGDL in isoform 2. | VSP_025352 | |||||
| Alternative sequence | 1067 – 1217 | 151 | Missing in isoform 2. | VSP_025353 | |||||
| Natural variant | 227 | 1 | A → V in CRMCC. Ref.8 | VAR_067369 | |||||
| Natural variant | 259 | 1 | V → M in CRMCC. Ref.9 | VAR_067370 | |||||
| Natural variant | 503 | 1 | G → R in CRMCC. Ref.9 | VAR_067371 | |||||
| Natural variant | 665 | 1 | V → G in CRMCC. Ref.8 | VAR_067372 | |||||
| Natural variant | 820 | 1 | I → V. Corresponds to variant rs3027238 [ dbSNP | Ensembl ]. | VAR_032282 | |||||
| Natural variant | 840 | 1 | R → W in CRMCC. Ref.9 | VAR_067373 | |||||
| Natural variant | 871 | 1 | V → M in CRMCC. Ref.9 | VAR_067374 | |||||
| Natural variant | 975 | 1 | R → G in CRMCC. Ref.8 Ref.9 | VAR_067375 | |||||
| Natural variant | 985 | 1 | Missing in CRMCC. Ref.8 Ref.9 | VAR_067376 | |||||
| Natural variant | 987 | 1 | R → W in CRMCC. Ref.9 | VAR_067377 | |||||
| Natural variant | 1005 | 1 | I → V. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs3826543 [ dbSNP | Ensembl ]. | VAR_032283 | |||||
| Natural variant | 1142 | 1 | L → H in CRMCC. Ref.8 | VAR_067378 | |||||
| Natural variant | 1196 – 1202 | 7 | Missing in CRMCC. | VAR_067379 | |||||
Experimental info | |||||||||
| Sequence conflict | 41 | 1 | L → V in CAD38600. Ref.2 | ||||||
| Sequence conflict | 425 | 1 | L → P in CAD38600. Ref.2 | ||||||
| Sequence conflict | 668 | 1 | S → I in ABE02809. Ref.1 | ||||||
| Sequence conflict | 668 | 1 | S → I in BAG52278. Ref.3 | ||||||
| Sequence conflict | 864 | 1 | S → G in CAD38600. Ref.2 | ||||||
| Sequence conflict | 900 | 1 | A → T in AAI10374. Ref.5 | ||||||
| Sequence conflict | 964 | 1 | G → E in CAD38600. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | Lun Y.Z., Cheng J., Guo J., Zhang L.Y., Zhao B.C. Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT VAL-1005. |
| [2] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-1005. Tissue: Skeletal muscle. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-1005. Tissue: Corpus callosum and Kidney epithelium. |
| [4] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-1005. Tissue: Lung carcinoma and Uterine adenocarcinoma. |
| [6] | "RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway." Miyake Y., Nakamura M., Nabetani A., Shimamura S., Tamura M., Yonehara S., Saito M., Ishikawa F. Mol. Cell 36:193-206(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE CST COMPLEX, SUBCELLULAR LOCATION. |
| [7] | "Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes." Surovtseva Y.V., Churikov D., Boltz K.A., Song X., Lamb J.C., Warrington R., Leehy K., Heacock M., Price C.M., Shippen D.E. Mol. Cell 36:207-218(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [8] | "Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts." Polvi A., Linnankivi T., Kivela T., Herva R., Keating J.P., Makitie O., Pareyson D., Vainionpaa L., Lahtinen J., Hovatta I., Pihko H., Lehesjoki A.E. Am. J. Hum. Genet. 90:540-549(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CRMCC VAL-227; GLY-665; GLY-975; CYS-985 DEL; HIS-1142 AND 1196-LEU--ARG-1202 DEL. |
| [9] | "Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus." Anderson B.H., Kasher P.R., Mayer J., Szynkiewicz M., Jenkinson E.M., Bhaskar S.S., Urquhart J.E., Daly S.B., Dickerson J.E., O'Sullivan J., Leibundgut E.O., Muter J., Abdel-Salem G.M., Babul-Hirji R., Baxter P., Berger A., Bonafe L., Brunstom-Hernandez J.E. Crow Y.J.Nat. Genet. 44:338-342(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CRMCC MET-259; ARG-503; TRP-840; MET-871; GLY-975; CYS-985 DEL; TRP-987 AND 1196-LEU--ARG-1202 DEL. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | DQ451688 mRNA. Translation: ABE02809.1. AL831955 mRNA. Translation: CAD38600.1. Different initiation. AK091077 mRNA. Translation: BAG52278.1. AC135178 Genomic DNA. No translation available. BC026057 mRNA. Translation: AAH26057.2. BC110373 mRNA. Translation: AAI10374.1. BC111783 mRNA. Translation: AAI11784.1. AK025823 mRNA. Translation: BAB15247.1. Different initiation. |
| IPI | IPI00018087. IPI00855745. |
| RefSeq | NP_079375.3. NM_025099.5. |
| UniGene | Hs.156055. |
3D structure databases | |
| ProteinModelPortal | Q2NKJ3. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-56900N. |
| IntAct | Q2NKJ3. 1 interaction. |
| STRING | 9606.ENSP00000313759. |
PTM databases | |
| PhosphoSite | Q2NKJ3. |
Polymorphism databases | |
| DMDM | 292495002. |
Proteomic databases | |
| PaxDb | Q2NKJ3. |
| PRIDE | Q2NKJ3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000315684; ENSP00000313759; ENSG00000178971. ENST00000449476; ENSP00000396018; ENSG00000178971. |
| GeneID | 80169. |
| KEGG | hsa:80169. |
| UCSC | uc002gkq.4. human. |
Organism-specific databases | |
| CTD | 80169. |
| GeneCards | GC17M008154. |
| H-InvDB | HIX0019337. |
| HGNC | HGNC:26169. CTC1. |
| HPA | HPA044349. |
| MIM | 612199. phenotype. 613129. gene. |
| neXtProt | NX_Q2NKJ3. |
| PharmGKB | PA142672251. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG39921. |
| HOVERGEN | HBG097256. |
| InParanoid | Q2NKJ3. |
| OMA | WLGHLFL. |
| OrthoDB | EOG44BB1D. |
Gene expression databases | |
| Bgee | Q2NKJ3. |
| CleanEx | HS_C17orf68. |
| Genevestigator | Q2NKJ3. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CTC1. human. |
| GenomeRNAi | 80169. |
| NextBio | 70483. |
| SOURCE | Search... |
Entry information
| Entry name | CTC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q2NKJ3 Secondary accession number(s): B3KR66 Q9H6L0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
