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

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: human all
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Genomic context

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
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	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 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	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

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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)

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
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
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
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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

68906014..68927299

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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