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Q2NKJ3

- CTC1_HUMAN

UniProt

Q2NKJ3 - CTC1_HUMAN

Protein

CST complex subunit CTC1

Gene

CTC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 71 (01 Oct 2014)
      Sequence version 2 (23 Mar 2010)
      Previous versions | rss
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    Functioni

    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.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. single-stranded DNA binding Source: UniProtKB

    GO - Biological processi

    1. bone marrow development Source: Ensembl
    2. cellular response to DNA damage stimulus Source: Ensembl
    3. hematopoietic stem cell proliferation Source: Ensembl
    4. multicellular organism growth Source: Ensembl
    5. positive regulation of DNA replication Source: UniProtKB
    6. positive regulation of fibroblast proliferation Source: Ensembl
    7. regulation of G2/M transition of mitotic cell cycle Source: Ensembl
    8. replicative senescence Source: Ensembl
    9. spleen development Source: Ensembl
    10. telomere maintenance Source: UniProtKB
    11. telomere maintenance via telomere lengthening Source: Ensembl
    12. thymus development Source: Ensembl

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    CST complex subunit CTC1
    Alternative name(s):
    Conserved telomere maintenance component 1
    HBV DNAPTP1-transactivated protein B
    Gene namesi
    Name:CTC1
    Synonyms:C17orf68
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:26169. CTC1.

    Subcellular locationi

    Nucleus 1 Publication. Chromosometelomere 1 Publication
    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.

    GO - Cellular componenti

    1. nuclear chromosome, telomeric region Source: UniProtKB
    2. nucleus Source: UniProtKB
    3. Stn1-Ten1 complex Source: UniProtKB

    Keywords - Cellular componenti

    Chromosome, Nucleus, Telomere

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti227 – 2271A → V in CRMCC. 1 Publication
    VAR_067369
    Natural varianti259 – 2591V → M in CRMCC. 1 Publication
    VAR_067370
    Natural varianti503 – 5031G → R in CRMCC. 1 Publication
    VAR_067371
    Natural varianti665 – 6651V → G in CRMCC. 1 Publication
    VAR_067372
    Natural varianti840 – 8401R → W in CRMCC. 1 Publication
    VAR_067373
    Natural varianti871 – 8711V → M in CRMCC. 1 Publication
    VAR_067374
    Natural varianti975 – 9751R → G in CRMCC. 2 Publications
    VAR_067375
    Natural varianti985 – 9851Missing in CRMCC. 2 Publications
    VAR_067376
    Natural varianti987 – 9871R → W in CRMCC. 1 Publication
    VAR_067377
    Natural varianti1142 – 11421L → H in CRMCC. 1 Publication
    VAR_067378
    Natural varianti1196 – 12027Missing in CRMCC.
    VAR_067379

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi612199. phenotype.
    Orphaneti313838. Coats plus syndrome.
    1775. Dyskeratosis congenita.
    PharmGKBiPA142672251.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12171217CST complex subunit CTC1PRO_0000287181Add
    BLAST

    Proteomic databases

    MaxQBiQ2NKJ3.
    PaxDbiQ2NKJ3.
    PRIDEiQ2NKJ3.

    PTM databases

    PhosphoSiteiQ2NKJ3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ2NKJ3.
    BgeeiQ2NKJ3.
    CleanExiHS_C17orf68.
    GenevestigatoriQ2NKJ3.

    Organism-specific databases

    HPAiHPA044349.

    Interactioni

    Subunit structurei

    Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1/OBFC1. Interacts with STN1/OBFC1; the interaction is direct.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    OBFC1Q9H6686EBI-2562802,EBI-746930

    Protein-protein interaction databases

    BioGridi123155. 2 interactions.
    DIPiDIP-56900N.
    IntActiQ2NKJ3. 3 interactions.
    STRINGi9606.ENSP00000313759.

    Structurei

    3D structure databases

    ProteinModelPortaliQ2NKJ3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CTC1 family.Curated

    Phylogenomic databases

    eggNOGiNOG39921.
    HOVERGENiHBG097256.
    InParanoidiQ2NKJ3.
    OMAiRLAWSWL.
    OrthoDBiEOG79CXXP.
    PhylomeDBiQ2NKJ3.
    TreeFamiTF335866.

    Family and domain databases

    InterProiIPR029156. CTC1.
    [Graphical view]
    PfamiPF15489. CTC1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q2NKJ3-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAAGRAQVPS SEQAWLEDAQ VFIQKTLCPA VKEPNVQLTP LVIDCVKTVW     50
    LSQGRNQGST LPLSYSFVSV QDLKTHQRLP CCSHLSWSSS AYQAWAQEAG 100
    PNGNPLPREQ LLLLGTLTDL SADLEQECRN GSLYVRDNTG VLSCELIDLD 150
    LSWLGHLFLF PRWSYLPPAR WNSSGEGHLE LWDAPVPVFP LTISPGPVTP 200
    IPVLYPESAS CLLRLRNKLR GVQRNLAGSL VRLSALVKSK QKAYFILSLG 250
    RSHPAVTHVS IIVQVPAQLV WHRALRPGTA YVLTELRVSK IRGQRQHVWM 300
    TSQSSRLLLL KPECVQELEL ELEGPLLEAD PKPLPMPSNS EDKKDPESLV 350
    RYSRLLSYSG AVTGVLNEPA GLYELDGQLG LCLAYQQFRG LRRVMRPGVC 400
    LQLQDVHLLQ SVGGGTRRPV LAPCLRGAVL LQSFSRQKPG AHSSRQAYGA 450
    SLYEQLVWER QLGLPLYLWA TKALEELACK LCPHVLRHHQ FLQHSSPGSP 500
    SLGLQLLAPT LDLLAPPGSP VRNAHNEILE EPHHCPLQKY TRLQTPSSFP 550
    TLATLKEEGQ RKAWASFDPK ALLPLPEASY LPSCQLNRRL AWSWLCLLPS 600
    AFCPAQVLLG VLVASSHKGC LQLRDQSGSL PCLLLAKHSQ PLSDPRLIGC 650
    LVRAERFQLI VERDVRSSFP SWKELSMPGF IQKQQARVYV QFFLADALIL 700
    PVPRPCLHSA TPSTPQTDPT GPEGPHLGQS RLFLLCHKEA LMKRNFCVPP 750
    GASPEVPKPA LSFYVLGSWL GGTQRKEGTG WGLPEPQGND DNDQKVHLIF 800
    FGSSVRWFEF LHPGQVYRLI APGPATPMLF EKDGSSCISR RPLELAGCAS 850
    CLTVQDNWTL ELESSQDIQD VLDANKSLPE SSLTDLLSDN FTDSLVSFSA 900
    EILSRTLCEP LVASLWMKLG NTGAMRRCVK LTVALETAEC EFPPHLDVYI 950
    EDPHLPPSLG LLPGARVHFS QLEKRVSRSH NVYCCFRSST YVQVLSFPPE 1000
    TTISIPLPHI YLAELLQGGQ SPFQATASCH IVSVFSLQLF WVCAYCTSIC 1050
    RQGKCTRLGS TCPTQTAISQ AIIRLLVEDG TAEAVVTCRN HHVAAALGLC 1100
    PREWASLLDF VQVPGRVVLQ FAGPGAQLES SARVDEPMTM FLWTLCTSPS 1150
    VLRPIVLSFE LERKPSKIVP LEPPRLQRFQ CGELPFLTHV NPRLRLSCLS 1200
    IRESEYSSSL GILASSC 1217
    Length:1,217
    Mass (Da):134,609
    Last modified:March 23, 2010 - v2
    Checksum:iEF6B3985C72FDA6E
    GO
    Isoform 2 (identifier: Q2NKJ3-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:1,031
    Mass (Da):114,142
    Checksum:i4FDB851CDB123E45
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti41 – 411L → V in CAD38600. (PubMed:17974005)Curated
    Sequence conflicti425 – 4251L → P in CAD38600. (PubMed:17974005)Curated
    Sequence conflicti668 – 6681S → I in ABE02809. 1 PublicationCurated
    Sequence conflicti668 – 6681S → I in BAG52278. (PubMed:14702039)Curated
    Sequence conflicti864 – 8641S → G in CAD38600. (PubMed:17974005)Curated
    Sequence conflicti900 – 9001A → T in AAI10374. (PubMed:15489334)Curated
    Sequence conflicti964 – 9641G → E in CAD38600. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti227 – 2271A → V in CRMCC. 1 Publication
    VAR_067369
    Natural varianti259 – 2591V → M in CRMCC. 1 Publication
    VAR_067370
    Natural varianti503 – 5031G → R in CRMCC. 1 Publication
    VAR_067371
    Natural varianti665 – 6651V → G in CRMCC. 1 Publication
    VAR_067372
    Natural varianti820 – 8201I → V.
    Corresponds to variant rs3027238 [ dbSNP | Ensembl ].
    VAR_032282
    Natural varianti840 – 8401R → W in CRMCC. 1 Publication
    VAR_067373
    Natural varianti871 – 8711V → M in CRMCC. 1 Publication
    VAR_067374
    Natural varianti975 – 9751R → G in CRMCC. 2 Publications
    VAR_067375
    Natural varianti985 – 9851Missing in CRMCC. 2 Publications
    VAR_067376
    Natural varianti987 – 9871R → W in CRMCC. 1 Publication
    VAR_067377
    Natural varianti1005 – 10051I → V.4 Publications
    Corresponds to variant rs3826543 [ dbSNP | Ensembl ].
    VAR_032283
    Natural varianti1142 – 11421L → H in CRMCC. 1 Publication
    VAR_067378
    Natural varianti1196 – 12027Missing in CRMCC.
    VAR_067379

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei217 – 25135Missing in isoform 2. 1 PublicationVSP_025351Add
    BLAST
    Alternative sequencei1053 – 106614GKCTR…CPTQT → APGGGWDCRSRGDL in isoform 2. 1 PublicationVSP_025352Add
    BLAST
    Alternative sequencei1067 – 1217151Missing in isoform 2. 1 PublicationVSP_025353Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS42259.1. [Q2NKJ3-1]
    RefSeqiNP_079375.3. NM_025099.5. [Q2NKJ3-1]
    UniGeneiHs.156055.

    Genome annotation databases

    EnsembliENST00000315684; ENSP00000313759; ENSG00000178971. [Q2NKJ3-1]
    ENST00000449476; ENSP00000396018; ENSG00000178971. [Q2NKJ3-2]
    GeneIDi80169.
    KEGGihsa:80169.
    UCSCiuc002gkq.4. human. [Q2NKJ3-1]

    Polymorphism databases

    DMDMi292495002.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS42259.1. [Q2NKJ3-1 ]
    RefSeqi NP_079375.3. NM_025099.5. [Q2NKJ3-1 ]
    UniGenei Hs.156055.

    3D structure databases

    ProteinModelPortali Q2NKJ3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123155. 2 interactions.
    DIPi DIP-56900N.
    IntActi Q2NKJ3. 3 interactions.
    STRINGi 9606.ENSP00000313759.

    PTM databases

    PhosphoSitei Q2NKJ3.

    Polymorphism databases

    DMDMi 292495002.

    Proteomic databases

    MaxQBi Q2NKJ3.
    PaxDbi Q2NKJ3.
    PRIDEi Q2NKJ3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000315684 ; ENSP00000313759 ; ENSG00000178971 . [Q2NKJ3-1 ]
    ENST00000449476 ; ENSP00000396018 ; ENSG00000178971 . [Q2NKJ3-2 ]
    GeneIDi 80169.
    KEGGi hsa:80169.
    UCSCi uc002gkq.4. human. [Q2NKJ3-1 ]

    Organism-specific databases

    CTDi 80169.
    GeneCardsi GC17M008174.
    H-InvDB HIX0019337.
    HGNCi HGNC:26169. CTC1.
    HPAi HPA044349.
    MIMi 612199. phenotype.
    613129. gene.
    neXtProti NX_Q2NKJ3.
    Orphaneti 313838. Coats plus syndrome.
    1775. Dyskeratosis congenita.
    PharmGKBi PA142672251.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39921.
    HOVERGENi HBG097256.
    InParanoidi Q2NKJ3.
    OMAi RLAWSWL.
    OrthoDBi EOG79CXXP.
    PhylomeDBi Q2NKJ3.
    TreeFami TF335866.

    Miscellaneous databases

    ChiTaRSi CTC1. human.
    GenomeRNAii 80169.
    NextBioi 70483.
    PROi Q2NKJ3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q2NKJ3.
    Bgeei Q2NKJ3.
    CleanExi HS_C17orf68.
    Genevestigatori Q2NKJ3.

    Family and domain databases

    InterProi IPR029156. CTC1.
    [Graphical view ]
    Pfami PF15489. CTC1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., 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.
      , Buckard J.A., Chitayat D., Chong W.K., Cordelli D.M., Ferreira P., Fluss J., Forrest E.H., Franzoni E., Garone C., Hammans S.R., Houge G., Hughes I., Jacquemont S., Jeannet P.Y., Jefferson R.J., Kumar R., Kutschke G., Lundberg S., Lourenco C.M., Mehta R., Naidu S., Nischal K.K., Nunes L., Ounap K., Philippart M., Prabhakar P., Risen S.R., Schiffmann R., Soh C., Stephenson J.B., Stewart H., Stone J., Tolmie J.L., van der Knaap M.S., Vieira J.P., Vilain C.N., Wakeling E.L., Wermenbol V., Whitney A., Lovell S.C., Meyer S., Livingston J.H., Baerlocher G.M., Black G.C., Rice G.I., 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.

    Entry informationi

    Entry nameiCTC1_HUMAN
    AccessioniPrimary (citable) accession number: Q2NKJ3
    Secondary accession number(s): B3KR66
    , C9JEX5, Q1PCD1, Q2TBE3, Q8N3S6, Q9H6L0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: March 23, 2010
    Last modified: October 1, 2014
    This is version 71 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3