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Q2NKJ3

- CTC1_HUMAN

UniProt

Q2NKJ3 - CTC1_HUMAN

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Protein

CST complex subunit CTC1

Gene

CTC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. 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
Complete GO annotation...

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
Complete GO annotation...

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. 2 Publications
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

BgeeiQ2NKJ3.
CleanExiHS_C17orf68.
ExpressionAtlasiQ2NKJ3. baseline and differential.
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. 4 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.
GeneTreeiENSGT00390000011553.
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

        10         20         30         40         50
MAAGRAQVPS SEQAWLEDAQ VFIQKTLCPA VKEPNVQLTP LVIDCVKTVW
60 70 80 90 100
LSQGRNQGST LPLSYSFVSV QDLKTHQRLP CCSHLSWSSS AYQAWAQEAG
110 120 130 140 150
PNGNPLPREQ LLLLGTLTDL SADLEQECRN GSLYVRDNTG VLSCELIDLD
160 170 180 190 200
LSWLGHLFLF PRWSYLPPAR WNSSGEGHLE LWDAPVPVFP LTISPGPVTP
210 220 230 240 250
IPVLYPESAS CLLRLRNKLR GVQRNLAGSL VRLSALVKSK QKAYFILSLG
260 270 280 290 300
RSHPAVTHVS IIVQVPAQLV WHRALRPGTA YVLTELRVSK IRGQRQHVWM
310 320 330 340 350
TSQSSRLLLL KPECVQELEL ELEGPLLEAD PKPLPMPSNS EDKKDPESLV
360 370 380 390 400
RYSRLLSYSG AVTGVLNEPA GLYELDGQLG LCLAYQQFRG LRRVMRPGVC
410 420 430 440 450
LQLQDVHLLQ SVGGGTRRPV LAPCLRGAVL LQSFSRQKPG AHSSRQAYGA
460 470 480 490 500
SLYEQLVWER QLGLPLYLWA TKALEELACK LCPHVLRHHQ FLQHSSPGSP
510 520 530 540 550
SLGLQLLAPT LDLLAPPGSP VRNAHNEILE EPHHCPLQKY TRLQTPSSFP
560 570 580 590 600
TLATLKEEGQ RKAWASFDPK ALLPLPEASY LPSCQLNRRL AWSWLCLLPS
610 620 630 640 650
AFCPAQVLLG VLVASSHKGC LQLRDQSGSL PCLLLAKHSQ PLSDPRLIGC
660 670 680 690 700
LVRAERFQLI VERDVRSSFP SWKELSMPGF IQKQQARVYV QFFLADALIL
710 720 730 740 750
PVPRPCLHSA TPSTPQTDPT GPEGPHLGQS RLFLLCHKEA LMKRNFCVPP
760 770 780 790 800
GASPEVPKPA LSFYVLGSWL GGTQRKEGTG WGLPEPQGND DNDQKVHLIF
810 820 830 840 850
FGSSVRWFEF LHPGQVYRLI APGPATPMLF EKDGSSCISR RPLELAGCAS
860 870 880 890 900
CLTVQDNWTL ELESSQDIQD VLDANKSLPE SSLTDLLSDN FTDSLVSFSA
910 920 930 940 950
EILSRTLCEP LVASLWMKLG NTGAMRRCVK LTVALETAEC EFPPHLDVYI
960 970 980 990 1000
EDPHLPPSLG LLPGARVHFS QLEKRVSRSH NVYCCFRSST YVQVLSFPPE
1010 1020 1030 1040 1050
TTISIPLPHI YLAELLQGGQ SPFQATASCH IVSVFSLQLF WVCAYCTSIC
1060 1070 1080 1090 1100
RQGKCTRLGS TCPTQTAISQ AIIRLLVEDG TAEAVVTCRN HHVAAALGLC
1110 1120 1130 1140 1150
PREWASLLDF VQVPGRVVLQ FAGPGAQLES SARVDEPMTM FLWTLCTSPS
1160 1170 1180 1190 1200
VLRPIVLSFE LERKPSKIVP LEPPRLQRFQ CGELPFLTHV NPRLRLSCLS
1210
IRESEYSSSL GILASSC
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.Curated
The sequence CAD38600.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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. 2 Publications
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 4 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 GC17M008207.
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.
GeneTreei ENSGT00390000011553.
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

Bgeei Q2NKJ3.
CleanExi HS_C17orf68.
ExpressionAtlasi Q2NKJ3. baseline and differential.
Genevestigatori Q2NKJ3.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 72 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