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Ctc1 CTS telomere maintenance complex component 1 [ Mus musculus (house mouse) ]

Gene ID: 68964, updated on 2-Nov-2024

Summary

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Official Symbol
Ctc1provided by MGI
Official Full Name
CTS telomere maintenance complex component 1provided by MGI
Primary source
MGI:MGI:1916214
See related
Ensembl:ENSMUSG00000020898 AllianceGenome:MGI:1916214
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
AAF132; AAF-132; 1500010J02Rik
Summary
Enables single-stranded DNA binding activity. Involved in positive regulation of DNA replication. Acts upstream of or within several processes, including hematopoietic or lymphoid organ development; hematopoietic stem cell proliferation; and replicative senescence. Located in chromosome, telomeric region and nucleus. Part of CST complex. Is expressed in genitourinary system. Orthologous to human CTC1 (CST telomere replication complex component 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in whole brain E14.5 (RPKM 26.5), CNS E14 (RPKM 22.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Ctc1 in Genome Data Viewer
Location:
11 B3; 11 42.29 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (68906014..68927299)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (69015188..69036473)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) Neighboring gene microRNA 3062 Neighboring gene predicted gene, 25819 Neighboring gene STARR-positive B cell enhancer ABC_E8416 Neighboring gene STARR-positive B cell enhancer ABC_E589 Neighboring gene STARR-seq mESC enhancer starr_29828 Neighboring gene STARR-seq mESC enhancer starr_29829 Neighboring gene STARR-positive B cell enhancer ABC_E7000 Neighboring gene STARR-positive B cell enhancer ABC_E7001 Neighboring gene nuclear encoded tRNA isoleucine 5 (anticodon AAT) Neighboring gene nuclear encoded tRNA serine 4 (anticodon AGA)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion. Gu P, et al. EMBO J, 2012 May 16. PMID 22531781, Free PMC Article
  2. A DNA polymerase-{alpha}{middle dot}primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells. Casteel DE, et al. J Biol Chem, 2009 Feb 27. PMID 19119139, Free PMC Article
  3. RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway. Miyake Y, et al. Mol Cell, 2009 Oct 23. PMID 19854130
  4. Mutagenesis of diploid mammalian genes by gene entrapment. Lin Q, et al. Nucleic Acids Res, 2006. PMID 17062627, Free PMC Article
  5. New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules. Das R, et al. J Cell Sci, 2019 Jun 17. PMID 31138677, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These data demonstrate an essential role for CTC1 in promoting efficient replication and length maintenance of telomeres.
    Title: CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Targeted (4)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

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

General protein information

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Preferred Names
CST complex subunit CTC1
Names
alpha accessory factor 132
alpha-accessory factor of 132 kDa
conserved telomere maintenance component 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001013256.2 → NP_001013274.2  CST complex subunit CTC1 isoform a

    See identical proteins and their annotated locations for NP_001013274.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AW047236, BB854410, BC066078, BC147495, CA327858
    Consensus CDS
    CCDS36189.2
    UniProtKB/Swiss-Prot
    B2RW14, Q3UKQ1, Q5SUQ9, Q6P9S2, Q8BRK2, Q91WN0, Q9CW32
    Related
    ENSMUSP00000112063.3, ENSMUST00000116359.3
    Conserved Domains (1) summary
    pfam15489
    Location:61 → 1196
    CTC1; CST, telomere maintenance, complex subunit CTC1

  2. NM_001143790.1 → NP_001137262.1  CST complex subunit CTC1 isoform c

    See identical proteins and their annotated locations for NP_001137262.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (c) lacks one internal residue, compared to isoform a.
    Source sequence(s)
    AL645902, AW047236, BB854410, BC066078, CA327858
    Consensus CDS
    CCDS48824.1
    UniProtKB/Swiss-Prot
    Q5SUQ9
    Related
    ENSMUSP00000021278.8, ENSMUST00000021278.14
    Conserved Domains (1) summary
    pfam15489
    Location:61 → 1195
    CTC1; CST, telomere maintenance, complex subunit CTC1

  3. NM_001281464.1 → NP_001268393.1  CST complex subunit CTC1 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform d) is shorter than isoform a.
    Source sequence(s)
    AW047236, BB854410, BC072625
    Consensus CDS
    CCDS70214.1
    UniProtKB/TrEMBL
    E0CXE7
    Related
    ENSMUSP00000124702.2, ENSMUST00000161455.8
    Conserved Domains (1) summary
    cl24054
    Location:1 → 949
    CTC1; CST, telomere maintenance, complex subunit CTC1

  4. NM_001281465.1 → NP_001268394.1  CST complex subunit CTC1 isoform b

    See identical proteins and their annotated locations for NP_001268394.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences, compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG. The encoded protein (isoform b) is shorter than isoform a.
    Source sequence(s)
    AK044055, AL645902, AW047236, BB854410, CA327858
    UniProtKB/Swiss-Prot
    Q5SUQ9
    Conserved Domains (1) summary
    pfam15489
    Location:1 → 950
    CTC1; CST, telomere maintenance, complex subunit CTC1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    68906014..68927299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006534088.4 → XP_006534151.1  CST complex subunit CTC1 isoform X1

    Conserved Domains (1) summary
    pfam15489
    Location:61 → 1261
    CTC1; CST, telomere maintenance, complex subunit CTC1

  2. XM_006534089.4 → XP_006534152.1  CST complex subunit CTC1 isoform X2

    Conserved Domains (1) summary
    pfam15489
    Location:61 → 1260
    CTC1; CST, telomere maintenance, complex subunit CTC1

  3. XM_006534092.4 → XP_006534155.1  CST complex subunit CTC1 isoform X3

    Conserved Domains (1) summary
    cl24054
    Location:1 → 1015
    CTC1; CST, telomere maintenance, complex subunit CTC1

  4. XM_030246267.1 → XP_030102127.1  CST complex subunit CTC1 isoform X4

    Conserved Domains (1) summary
    cl24054
    Location:1 → 1014
    CTC1; CST, telomere maintenance, complex subunit CTC1

  5. XM_030246268.1 → XP_030102128.1  CST complex subunit CTC1 isoform X5

    UniProtKB/TrEMBL
    E0CXE7
    Conserved Domains (1) summary
    cl24054
    Location:1 → 949
    CTC1; CST, telomere maintenance, complex subunit CTC1

  6. XM_006534093.1 → XP_006534156.1  CST complex subunit CTC1 isoform X6

    Conserved Domains (1) summary
    cl24054
    Location:2 → 658
    CTC1; CST, telomere maintenance, complex subunit CTC1

RNA

  1. XR_003949499.1 RNA Sequence

  2. XR_388517.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5SUQ9.2 GenPept UniProtKB/Swiss-Prot:Q5SUQ9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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