CTC1 (CST telomere replication complex component 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80169
Gene name Gene Name - the full gene name approved by the HGNC.
CST telomere replication complex component 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTC1
Synonyms (NCBI Gene) Gene synonyms aliases
AAF-132, AAF132, C17orf68, CRMCC, tmp494178
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613129 26169 ENSG00000178971
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cerebroretinal Microangiopathy With Calcifications And Cysts cerebroretinal microangiopathy with calcifications and cysts 1 rs764019241, rs397514660, rs201455840, rs199473674, rs199473676, rs1444923772, rs202138550, rs745467709, rs199473682, rs200609323, rs387907080, rs199473677, rs199473673, rs1567599993, rs373905859
View all (3 more)		 N/A
Dyskeratosis Congenita dyskeratosis congenita rs199473677, rs372031509, rs767991627, rs397514660, rs1597374251, rs199473676, rs1444923772, rs199473674, rs745467709, rs199473682, rs200609323, rs202138550, rs62637613, rs769617113, rs199473673
View all (7 more)		 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coats Disease Coats plus syndrome N/A N/A GenCC
Interstitial Lung Disease Interstitial lung disease 2 N/A N/A ClinVar
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Aplastic Associate 30891747
Bone Marrow Failure Disorders Associate 22899577, 30891747
Carcinoma Squamous Cell Associate 37487414
Cerebroretinal Microangiopathy with Calcifications and Cysts Associate 22387016, 22532422, 22899577, 24115768, 25843205, 28072696, 29481669, 30393977, 34110109, 35260125, 39616267
Cleft Palate Associate 29481669
Colorectal Neoplasms Associate 29703930
Corneal dystrophy Avellino type Associate 30995915
Cysts Associate 35260125
Disease Associate 24115768
Distal myopathy Nonaka type Associate 37978541