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CTC1 CTS telomere maintenance complex component 1 [ Homo sapiens (human) ]

Gene ID: 80169, updated on 11-Sep-2014
Official Symbol
CTC1provided by HGNC
Official Full Name
CTS telomere maintenance complex component 1provided by HGNC
Primary source
HGNC:HGNC:26169
Locus tag
RP11-849F2.8
See related
HPRD:07980; 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]
See CTC1 in Epigenomics, MapViewer
Location:
17p13.1
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (8224821..8248095, 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 long intergenic non-protein coding RNA 324 Neighboring gene transfer RNA-Asp (GTC) 2-9 Neighboring gene transfer RNA-Pro (CGG) 1-3 Neighboring gene transfer RNA-Thr (AGT) 1-2 Neighboring gene transfer RNA-Ser (AGA) 2-1 Neighboring gene transfer RNA-Ile (AAT) 4-1 Neighboring gene phosphoribosylformylglycinamidine synthase Neighboring gene solute carrier family 25, member 35 Neighboring gene RAN guanine nucleotide release factor

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cerebroretinal microangiopathy with calcifications and cysts
MedGen: C2677299 OMIM: 612199 GeneReviews: Not available
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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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22170, MGC133331

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
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 maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance via telomere lengthening IEA
Inferred from Electronic Annotation
more info
 
thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Stn1-Ten1 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
 
Preferred Names
CST complex subunit CTC1
Names
CST complex subunit CTC1
alpha accessory factor 132
HBV DNAPTP1-transactivated protein B
conserved telomere capping protein 1

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_032148.1 

    Range
    5001..28275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025099.5NP_079375.3  CST complex subunit CTC1

    See proteins identical to NP_079375.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC135178, BC111783, BU631459, BX406692, DA313518
    Consensus CDS
    CCDS42259.1
    UniProtKB/Swiss-Prot
    Q2NKJ3
    Conserved Domains (1) summary
    pfam15489
    Location:601201
    CTC1; CST, telomere maintenance, complex subunit CTC1

RNA

  1. NR_046431.1 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 Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    8224821..8248095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721577.1XP_006721640.1  

    Conserved Domains (1) summary
    pfam15489
    Location:601158
    CTC1; CST, telomere maintenance, complex subunit CTC1
  2. XM_006721578.1XP_006721641.1  

    Conserved Domains (1) summary
    pfam15489
    Location:601124
    CTC1; CST, telomere maintenance, complex subunit CTC1
  3. XM_006721579.1XP_006721642.1  

    Conserved Domains (1) summary
    pfam15489
    Location:60979
    CTC1; CST, telomere maintenance, complex subunit CTC1

RNA

  1. XR_429824.1 RNA Sequence

  2. XR_429823.1 RNA Sequence

  3. XR_429825.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    8023720..8047049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    8137269..8160346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)