Atad5 ATPase family, AAA domain containing 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atad5provided by MGI
Official Full Name: ATPase family, AAA domain containing 5provided by MGI
Primary source: MGI:MGI:2442925
See related: Ensembl:ENSMUSG00000017550 AllianceGenome:MGI:2442925
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: Gm17; FRAG1; C130052G03Rik
Summary: Predicted to enable DNA binding activity and DNA clamp unloader activity. Involved in cell population proliferation; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; and nuclear DNA replication. Acts upstream of or within several processes, including intracellular signal transduction; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage; and positive regulation of B cell activation. Located in nucleus. Is expressed in liver; metanephros; midbrain ventricular layer; renal cortex; and telencephalon ventricular layer. Orthologous to human ATAD5 (ATPase family AAA domain containing 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver E14 (RPKM 5.8), CNS E11.5 (RPKM 5.5) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 47.48 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (79980205..80026623)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (80089379..80135797)

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 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?

Atad5+/m cells accumulate in the S phase, have decreased proliferation, and have reduced double-strand breaks, class switch recombination, and translocations
Title: ATAD5 deficiency decreases B cell division and Igh recombination.
Authors discuss many functions of Elg1 protein as embryonic lethal when lost in mice, as a tumor suppressor in mice and humans, interacts with human Fanconi Anemia pathway and may contribute to some of the phenotypes associated with neurofibromatosis. [Review]
Title: Elg1, a central player in genome stability.
loss-of-function mutations in mammalian Atad5 are sufficient to cause genomic instability and tumorigenesis.
Title: Predisposition to cancer caused by genetic and functional defects of mammalian Atad5.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)

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 ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA clamp unloader activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA clamp unloader activity	ISO Inferred from Sequence Orthology more info
enables DNA clamp unloader activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA clamp unloading	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within immunoglobulin production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of isotype switching	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of nucleic acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA replication	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA replication	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell cycle G2/M phase transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell cycle G2/M phase transition	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of isotype switching to IgG isotypes	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of mitotic cell cycle phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within signal transduction in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Elg1 RFC-like complex	ISO Inferred from Sequence Orthology more info
part_of Elg1 RFC-like complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATPase family AAA domain-containing protein 5

Names: chromosome fragility associated gene 1; chromosome fragility-associated gene 1 protein

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_001029856.2 → NP_001025027.1 ATPase family AAA domain-containing protein 5

See identical proteins and their annotated locations for NP_001025027.1

Status: VALIDATED

Source sequence(s)

AL591113, AL663057, AL672178

Consensus CDS

CCDS25127.1

UniProtKB/Swiss-Prot

Q3TMG5, Q3UW85, Q3V306, Q3V3T9, Q4QY64, Q5SSK4, Q8BUH4, Q8CGG7

UniProtKB/TrEMBL

B2RUJ4

Related

ENSMUSP00000017694.6, ENSMUST00000017694.7

Conserved Domains (1) summary

cl21455
Location:1115 → 1160

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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

79980205..80026623

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006533234.4 → XP_006533297.1 ATPase family AAA domain-containing protein 5 isoform X3

Conserved Domains (1) summary

PRK04195
Location:1036 → 1154

PRK04195; replication factor C large subunit; Provisional
XM_006533233.3 → XP_006533296.1 ATPase family AAA domain-containing protein 5 isoform X2

Conserved Domains (1) summary

PRK04195
Location:1036 → 1154

PRK04195; replication factor C large subunit; Provisional
XM_006533232.4 → XP_006533295.1 ATPase family AAA domain-containing protein 5 isoform X1

UniProtKB/TrEMBL

B2RUJ4, Z4YKQ9

Related

ENSMUSP00000103874.2, ENSMUST00000108239.7

Conserved Domains (1) summary

PRK04195
Location:1036 → 1151

PRK04195; replication factor C large subunit; Provisional
XM_011248989.4 → XP_011247291.1 ATPase family AAA domain-containing protein 5 isoform X4

Conserved Domains (1) summary

PRK04195
Location:398 → 516

PRK04195; replication factor C large subunit; Provisional
XM_017314529.2 → XP_017170018.1 ATPase family AAA domain-containing protein 5 isoform X5

Related

ENSMUST00000151815.8

Conserved Domains (1) summary

PRK04195
Location:177 → 295

PRK04195; replication factor C large subunit; Provisional