CTC1 (CST telomere replication complex component 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 80169
Gene name CST telomere replication complex component 1
Gene symbol CTC1
Synonyms (NCBI Gene)
AAF-132AAF132C17orf68CRMCCtmp494178
Chromosome 17
Chromosome location 17p13.1
Summary This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme
SNPs SNP information provided by dbSNP.
29
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
SNP ID Visualize variation Clinical significance Consequence
rs147714487 G>A Conflicting-interpretations-of-pathogenicity Downstream transcript variant, stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs199473673 G>A Pathogenic Intron variant, missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs199473674 TTCT>- Pathogenic Intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs199473675 G>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs199473676 A>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
2326
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2326)
miRTarBase ID miRNA Experiments Reference
MIRT051436 hsa-let-7e-5p CLASH 23622248
MIRT050328 hsa-miR-25-3p CLASH 23622248
MIRT050102 hsa-miR-26a-5p CLASH 23622248
MIRT048968 hsa-miR-92a-3p CLASH 23622248
MIRT048968 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IMP 19854131
GO:0000781 Component Chromosome, telomeric region IDA 19854130
GO:0000781 Component Chromosome, telomeric region IEA
GO:0003677 Function DNA binding IEA
GO:0003697 Function Single-stranded DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613129 26169 ENSG00000178971
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2NKJ3
Protein name CST complex subunit CTC1 (Conserved telomere maintenance component 1) (HBV DNAPTP1-transactivated protein B)
Protein 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
PDB 5W2L , 6W6W , 7U5C , 8D0B , 8D0K , 8SOJ , 8SOK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15489 CTC1 61 → 1201 CST, telomere maintenance, complex subunit CTC1 Family
Sequence 
MAAGRAQVPSSEQAWLEDAQVFIQKTLCPAVKEPNVQLTPLVIDCVKTVWLSQGRNQGST
LPLSYSFVSVQDLKTHQRLPCCSHLSWSSSAYQAWAQEAGPNGNPLPREQLLLLGTLTDL
SADLEQECRNGSLYVRDNTGVLSCELIDLDLSWLGHLFLFPRWSYLPPARWNSSGEGHLE
LWDAPVPVFPLTISPGPVTPIPVLYPESASCLLRLRNKLRGVQRNLAGSLVRLSALVKSK
QKAYFILSLGRSHPAVTHVSIIVQVPAQLVWHRALRPGTAYVLTELRVSKIRGQRQHVWM
TSQSSRLLLLKPECVQELELELEGPLLEADPKPLPMPSNSEDKKDPESLVRYSRLLSYSG
AVTGVLNEPAGLYELDGQLGLCLAYQQFRGLRRVMRPGVCLQLQDVHLLQSVGGGTRRPV
LAPCLRGAVLLQSFSRQKPGAHSSRQAYGASLYEQLVWERQLGLPLYLWATKALEELACK
LCPHVLRHHQFLQHSSPGSPSLGLQLLAPTLDLLAPPGSPVRNAHNEILEEPHHCPLQKY
TRLQTPSSFPTLATLKEEGQRKAWASFDPKALLPLPEASYLPSCQLNRRLAWSWLCLLPS
AFCPAQVLLGVLVASSHKGCLQLRDQSGSLPCLLLAKHSQPLSDPRLIGCLVRAERFQLI
VERDVRSSFPSWKELSMPGFIQKQQARVYVQFFLADALILPVPRPCLHSATPSTPQTDPT
GPEGPHLGQSRLFLLCHKEALMKRNFCVPPGASPEVPKPALSFYVLGSWLGGTQRKEGTG
WGLPEPQGNDDNDQKVHLIFFGSSVRWFEFLHPGQVYRLIAPGPATPMLFEKDGSSCISR
RPLELAGCASCLTVQDNWTLELESSQDIQDVLDANKSLPESSLTDLLSDNFTDSLVSFSA
EILSRTLCEPLVASLWMKLGNTGAMRRCVKLTVALETAECEFPPHLDVYIEDPHLPPSLG
LLPGARVHFSQLEKRVSRSHNVYCCFRSSTYVQVLSFPPETTISIPLPHIYLAELLQGGQ
SPFQATASCHIVSVFSLQLFWVCAYCTSICRQGKCTRLGSTCPTQTAISQAIIRLLVEDG
TAEAVVTCRNHHVAAALGLCPREWASLLDFVQVPGRVVLQFAGPGAQLESSARVDEPMTM
FLWTLCTSPSVLRPIVLSFELERKPSKIVPLEPPRLQRFQCGELPFLTHVNPRLRLSCLS
IRESEYSSSLGILASSC
Sequence length 1217
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Telomere C-strand synthesis initiation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebroretinal microangiopathy with calcifications and cysts 1 Likely pathogenic; Pathogenic rs952398755, rs1250113146, rs1987206904, rs1299853886, rs773716148, rs766644829, rs760884555, rs748852501, rs1053748363, rs761076987, rs766214390, rs2507933288, rs778525768, rs761869951, rs2507897028
View all (22 more)		 RCV001780351
RCV001543678
RCV001780589
RCV001780890
RCV001780891
View all (33 more)
★★★★★
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ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coats plus syndrome Pathogenic rs199473677, rs1444923772, rs199473679, rs199473680 RCV000825561
RCV000500806
RCV000503047
RCV004017780
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma Pathogenic rs202138550 RCV005888661
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CTC1-related disorder Likely pathogenic; Pathogenic rs2507869681, rs199473674, rs199473677, rs761922947, rs199473680, rs1169567839 RCV003397403
RCV004751223
RCV004751224
RCV003413604
RCV003963008
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (22)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCINOSIS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (85)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia GENOMICS_ENGLAND_DG 28297620
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31703465
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 30891747 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Marrow Failure Disorders Bone marrow failure syndromes Pubtator 22899577, 30891747 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Marrow failure syndromes Bone marrow failure syndrome BEFREE 30891747
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 37487414 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebroretinal Microangiopathy with Calcifications and Cysts Cerebroretinal microangiopathy with calcifications and cysts Pubtator 22387016, 22532422, 22899577, 24115768, 25843205, 28072696, 29481669, 30393977, 34110109, 35260125, 39616267 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations