CTC1
entrez
80169
canonical
uniprot
Q2NKJ3
canonical
ensembl
ENSG00000178971
resolver
ensp
ENSP00000462720
resolver
ensp
ENSP00000498499
resolver
ensp
ENSP00000514647
resolver
ensp
ENSP00000514649
resolver
ensp
ENSP00000514650
resolver
ensp
ENSP00000602919
resolver
ensp
ENSP00000655626
resolver
ensp
ENSP00000693663
resolver
ensp
ENSP00000693664
resolver
ensp
ENSP00000727926
resolver
enst
ENST00000581729
resolver
enst
ENST00000699853
resolver
enst
ENST00000699856
resolver
genesymbol
CTC1
resolver
genesymbol_syn
C17orf68
resolver
hgnc
HGNC:26169
resolver
uniprot
A0A8V8TP86
resolver
uniprot
A0A8V8TQB6
resolver
uniprot
B3KR66
resolver
uniprot
C9JEX5
resolver
uniprot
J3KSZ1
resolver
uniprot
Q1PCD1
resolver
uniprot
Q2TBE3
resolver
uniprot
Q8N3S6
resolver
uniprot
Q9H6L0
resolver
uniprot_entry
A0A8V8TP86_HUMAN
resolver
uniprot_entry
A0A8V8TQB6_HUMAN
resolver
uniprot_entry
CTC1_HUMAN
resolver
uniprot_entry
J3KSZ1_HUMAN
resolver
uniprot_sec
B3KR66
resolver
uniprot_sec
C9JEX5
resolver
uniprot_sec
Q1PCD1
resolver
uniprot_sec
Q2TBE3
resolver
uniprot_sec
Q8N3S6
resolver
uniprot_sec
Q9H6L0
resolver
amino_acid_sequence
MAAGRAQVPSSEQAWLEDAQVFIQKTLCPAVKEPNVQLTPLVIDCVKTVWLSQGRNQGSTLPLSYSFVSVQDLKTHQRLPCCSHLSWSSSAYQAWAQEAGPNGNPLPREQLLLLGTLTDLSADLEQECRNGSLYVRDNTGVLSCELIDLDLSWLGHLFLFPRWSYLPPARWNSSGEGHLELWDAPVPVFPLTISPGPVTPIPVLYPESASCLLRLRNKLRGVQRNLAGSLVRLSALVKSKQKAYFILSLGRSHPAVTHVSIIVQVPAQLVWHRALRPGTAYVLTELRVSKIRGQRQHVWMTSQSSRLLLLKPECVQELELELEGPLLEADPKPLPMPSNSEDKKDPESLVRYSRLLSYSGAVTGVLNEPAGLYELDGQLGLCLAYQQFRGLRRVMRPGVCLQLQDVHLLQSVGGGTRRPVLAPCLRGAVLLQSFSRQKPGAHSSRQAYGASLYEQLVWERQLGLPLYLWATKALEELACKLCPHVLRHHQFLQHSSPGSPSLGLQLLAPTLDLLAPPGSPVRNAHNEILEEPHHCPLQKYTRLQTPSSFPTLATLKEEGQRKAWASFDPKALLPLPEASYLPSCQLNRRLAWSWLCLLPSAFCPAQVLLGVLVASSHKGCLQLRDQSGSLPCLLLAKHSQPLSDPRLIGCLVRAERFQLIVERDVRSSFPSWKELSMPGFIQKQQARVYVQFFLADALILPVPRPCLHSATPSTPQTDPTGPEGPHLGQSRLFLLCHKEALMKRNFCVPPGASPEVPKPALSFYVLGSWLGGTQRKEGTGWGLPEPQGNDDNDQKVHLIFFGSSVRWFEFLHPGQVYRLIAPGPATPMLFEKDGSSCISRRPLELAGCASCLTVQDNWTLELESSQDIQDVLDANKSLPESSLTDLLSDNFTDSLVSFSAEILSRTLCEPLVASLWMKLGNTGAMRRCVKLTVALETAECEFPPHLDVYIEDPHLPPSLGLLPGARVHFSQLEKRVSRSHNVYCCFRSSTYVQVLSFPPETTISIPLPHIYLAELLQGGQSPFQATASCHIVSVFSLQLFWVCAYCTSICRQGKCTRLGSTCPTQTAISQAIIRLLVEDGTAEAVVTCRNHHVAAALGLCPREWASLLDFVQVPGRVVLQFAGPGAQLESSARVDEPMTMFLWTLCTSPSVLRPIVLSFELERKPSKIVPLEPPRLQRFQCGELPFLTHVNPRLRLSCLSIRESEYSSSLGILASSC
uniprot
proteins
disease_involvement
DISEASE: Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [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:0000269|PubMed:22267198, ECO:0000269|PubMed:22387016}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. 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. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity). {ECO:0000250|UniProtKB:Q5SUQ9, ECO:0000269|PubMed:19854130, ECO:0000269|PubMed:19854131, ECO:0000269|PubMed:22763445, ECO:0000269|PubMed:22863775, ECO:0000269|PubMed:25483097}.
uniprot
proteins
mass_dalton
134609
uniprot
proteins
protein_family
CTC1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19854130
uniprot
proteins
pubmed
19854131
uniprot
proteins
pubmed
22267198
uniprot
proteins
pubmed
22387016
uniprot
proteins
pubmed
22763445
uniprot
proteins
pubmed
22863775
uniprot
proteins
pubmed
25483097
uniprot
proteins
sequence_length
1217
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19854130}. Chromosome, telomere {ECO:0000269|PubMed: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. {ECO:0000305}.
uniprot
proteins