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CTC1 CST telomere replication complex component 1 [ Homo sapiens (human) ]

Gene ID: 80169, updated on 3-May-2020

Summary

Official Symbol
CTC1provided by HGNC
Official Full Name
CST telomere replication complex component 1provided by HGNC
Primary source
HGNC:HGNC:26169
See related
Ensembl:ENSG00000178971 MIM:613129
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRMCC; AAF132; AAF-132; C17orf68; tmp494178
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 regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in lymph node (RPKM 10.4), spleen (RPKM 9.8) and 25 other tissues See more
Orthologs

Genomic context

See CTC1 in Genome Data Viewer
Location:
17p13.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (8224815..8248079, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8128139..8151413, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tRNA-Asp (anticodon GTC) 2-11 Neighboring gene long intergenic non-protein coding RNA 324 Neighboring gene tRNA-Pro (anticodon CGG) 1-3 Neighboring gene tRNA-Thr (anticodon AGT) 1-2 Neighboring gene tRNA-Ser (anticodon AGA) 2-6 Neighboring gene tRNA-Ile (anticodon AAT) 4-1 Neighboring gene phosphoribosylformylglycinamidine synthase Neighboring gene solute carrier family 25 member 35 Neighboring gene RAN guanine nucleotide release factor Neighboring gene CRISPRi-validated cis-regulatory element chr17.641

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cerebroretinal microangiopathy with calcifications and cysts 1
MedGen: C4552029 OMIM: 612199 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
NHGRI GWA Catalog
Genomic determinants of motor and cognitive outcomes in Parkinson's disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22170, MGC133331

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-rich strand telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single-stranded DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
bone marrow development IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
hematopoietic stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of DNA replication ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of G2/M transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
replicative senescence IEA
Inferred from Electronic Annotation
more info
 
spleen development IEA
Inferred from Electronic Annotation
more info
 
telomere capping TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance via telomere lengthening IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
CST complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CST complex IDA
Inferred from Direct Assay
more info
PubMed 
CST complex ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
CST complex subunit CTC1
Names
CST telomere maintenance complex component 1
CTS telomere maintenance complex component 1
HBV DNAPTP1-transactivated protein B
alpha accessory factor 132
conserved telomere capping protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032148.2 RefSeqGene

    Range
    5040..28281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1124

mRNA and Protein(s)

  1. NM_025099.6NP_079375.3  CST complex subunit CTC1

    See identical proteins and their annotated locations for NP_079375.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC135178, KF456245
    Consensus CDS
    CCDS42259.1
    UniProtKB/Swiss-Prot
    Q2NKJ3
    Related
    ENSP00000498499.1, ENST00000651323.1
    Conserved Domains (1) summary
    pfam15489
    Location:611201
    CTC1; CST, telomere maintenance, complex subunit CTC1

RNA

  1. NR_046431.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC135178, AL831955, BU631459

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    8224815..8248079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524010.2XP_011522312.1  CST complex subunit CTC1 isoform X1

    Related
    ENSP00000396018.2, ENST00000449476.7
    Conserved Domains (1) summary
    pfam15489
    Location:611166
    CTC1; CST, telomere maintenance, complex subunit CTC1
  2. XM_006721577.3XP_006721640.1  CST complex subunit CTC1 isoform X2

    Conserved Domains (1) summary
    pfam15489
    Location:611158
    CTC1; CST, telomere maintenance, complex subunit CTC1
  3. XM_006721578.3XP_006721641.1  CST complex subunit CTC1 isoform X3

    Conserved Domains (1) summary
    pfam15489
    Location:611124
    CTC1; CST, telomere maintenance, complex subunit CTC1
  4. XM_011524011.2XP_011522313.1  CST complex subunit CTC1 isoform X4

    Conserved Domains (1) summary
    pfam15489
    Location:1902
    CTC1; CST, telomere maintenance, complex subunit CTC1

RNA

  1. XR_001752639.1 RNA Sequence

  2. XR_001752642.1 RNA Sequence

  3. XR_002958073.1 RNA Sequence

  4. XR_001752641.1 RNA Sequence

  5. XR_001752640.1 RNA Sequence

  6. XR_429824.3 RNA Sequence

  7. XR_429823.3 RNA Sequence

  8. XR_001752643.1 RNA Sequence

  9. XR_429825.1 RNA Sequence

  10. XR_001752644.1 RNA Sequence

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