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

Gene ID: 68964, updated on 26-Sep-2022

Summary

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; replicative senescence; and telomere maintenance via telomere lengthening. Located in chromosome, telomeric region and nucleus. Part of CST complex. Is expressed in genitourinary system; mesonephric tubule; mesonephros; and nephric duct, metanephric portion. Orthologous to human CTC1 (CST telomere replication complex component 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in whole brain E14.5 (RPKM 26.5), CNS E14 (RPKM 22.6) and 28 other tissues See more
Orthologs
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Genomic context

See Ctc1 in Genome Data Viewer
Location:
11; 11 B3
Exon count:
25
Annotation release Status Assembly Chr Location
109 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 nuclear encoded tRNA isoleucine 5 (anticodon AAT) Neighboring gene nuclear encoded tRNA serine 4 (anticodon AGA)

Genomic regions, transcripts, and products

Expression

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

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 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
PubMed 
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
PubMed 
enables telomeric DNA binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within aging 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 cellular response to DNA damage stimulus 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 ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 via telomere lengthening IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
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

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_001013256.2NP_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
    Q5SUQ9, Q9CW32
    Related
    ENSMUSP00000112063.3, ENSMUST00000116359.3
    Conserved Domains (1) summary
    pfam15489
    Location:611196
    CTC1; CST, telomere maintenance, complex subunit CTC1
  2. NM_001143790.1NP_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:611195
    CTC1; CST, telomere maintenance, complex subunit CTC1
  3. NM_001281464.1NP_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:1949
    CTC1; CST, telomere maintenance, complex subunit CTC1
  4. NM_001281465.1NP_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:1950
    CTC1; CST, telomere maintenance, complex subunit CTC1

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_006534088.4XP_006534151.1  CST complex subunit CTC1 isoform X1

    Conserved Domains (1) summary
    pfam15489
    Location:611261
    CTC1; CST, telomere maintenance, complex subunit CTC1
  2. XM_006534089.4XP_006534152.1  CST complex subunit CTC1 isoform X2

    Conserved Domains (1) summary
    pfam15489
    Location:611260
    CTC1; CST, telomere maintenance, complex subunit CTC1
  3. XM_006534092.4XP_006534155.1  CST complex subunit CTC1 isoform X3

    Conserved Domains (1) summary
    cl24054
    Location:11015
    CTC1; CST, telomere maintenance, complex subunit CTC1
  4. XM_030246267.1XP_030102127.1  CST complex subunit CTC1 isoform X4

    Conserved Domains (1) summary
    cl24054
    Location:11014
    CTC1; CST, telomere maintenance, complex subunit CTC1
  5. XM_030246268.1XP_030102128.1  CST complex subunit CTC1 isoform X5

    UniProtKB/TrEMBL
    E0CXE7
    Conserved Domains (1) summary
    cl24054
    Location:1949
    CTC1; CST, telomere maintenance, complex subunit CTC1
  6. XM_006534093.1XP_006534156.1  CST complex subunit CTC1 isoform X6

    Conserved Domains (1) summary
    cl24054
    Location:2658
    CTC1; CST, telomere maintenance, complex subunit CTC1

RNA

  1. XR_003949499.1 RNA Sequence

  2. XR_388517.4 RNA Sequence