ATAD5 ATPase family AAA domain containing 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATAD5provided by HGNC
Official Full Name: ATPase family AAA domain containing 5provided by HGNC
Primary source: HGNC:HGNC:25752
See related: Ensembl:ENSG00000176208 MIM:609534; AllianceGenome:HGNC:25752
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ELG1; FRAG1; C17orf41
Summary: Enables DNA clamp unloader activity. Involved in positive regulation of DNA replication and positive regulation of cell cycle G2/M phase transition. Part of Elg1 RFC-like complex. Biomarker of neurilemmoma. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in bone marrow (RPKM 3.8), lymph node (RPKM 1.6) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (30831966..30895869)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (31777675..31841578)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (29158984..29222887)

Chromosome 17 - NC_000017.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Short-range end resection requires ATAD5-mediated PCNA unloading for faithful homologous recombination.
Title: Short-range end resection requires ATAD5-mediated PCNA unloading for faithful homologous recombination.
Effects of Defective Unloading and Recycling of PCNA Revealed by the Analysis of ELG1 Mutants.
Title: Effects of Defective Unloading and Recycling of PCNA Revealed by the Analysis of ELG1 Mutants.
Timely termination of repair DNA synthesis by ATAD5 is important in oxidative DNA damage-induced single-strand break repair.
Title: Timely termination of repair DNA synthesis by ATAD5 is important in oxidative DNA damage-induced single-strand break repair.
ATAD5 suppresses centrosome over-duplication by regulating UAF1 and ID1.
Title: ATAD5 suppresses centrosome over-duplication by regulating UAF1 and ID1.
ATAD5 restricts R-loop formation through PCNA unloading and RNA helicase maintenance at the replication fork.
Title: ATAD5 restricts R-loop formation through PCNA unloading and RNA helicase maintenance at the replication fork.
ATAD5, a PCNA unloader, plays multiple functions at stalled forks including promoting its restart. ATAD5 depletion increases genomic instability upon hydroxyurea treatment in cultured cells and mice. ATAD5 recruits RAD51 to stalled forks in an ATR kinase-dependent manner by hydroxyurea-enhanced protein-protein interactions and timely removes PCNA from stalled forks for RAD51 recruitment.
Title: ATAD5 promotes replication restart by regulating RAD51 and PCNA in response to replication stress.
Report rare ATAD5 missense mutations may contribute to genetic susceptibility breast cancer and epithelial ovarian carcinoma.
Title: Rare ATAD5 missense variants in breast and ovarian cancer patients.
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.
Elg1 has an important role in maintaining chromosome integrity by regulating PCNA levels on chromatin, thereby acting as a PCNA unloading factor.
Title: Alternative replication factor C protein, Elg1, maintains chromosome stability by regulating PCNA levels on chromatin.
ATAD5 regulates the cycle of DNA replication factories, probably through its PCNA-unloading activity.
Title: ATAD5 regulates the lifespan of DNA replication factories by modulating PCNA level on the chromatin.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-107412 (e-PCR)
- UniSTS:170330

SHGC-33441 (e-PCR)
- UniSTS:8799

RH44898 (e-PCR)
- UniSTS:50284

Gene Ontology Provided by GOA

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	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in isotype switching	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in nuclear DNA replication	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell cycle G2/M phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of isotype switching to IgG isotypes	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitotic cell cycle phase transition	IEA Inferred from Electronic Annotation more info
involved_in signal transduction in response to DNA damage	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Elg1 RFC-like complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

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; enhanced level of genomic instability 1 homolog

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_024857.5 → NP_079133.3 ATPase family AAA domain-containing protein 5

See identical proteins and their annotated locations for NP_079133.3

Status: VALIDATED

Source sequence(s)

AC127024, AJ314648, AL832103, DB527289, DR159473

Consensus CDS

CCDS11260.1

UniProtKB/Swiss-Prot

Q05DH0, Q69YR6, Q96QE3, Q9H9I1

Related

ENSP00000313171.4, ENST00000321990.5

Conserved Domains (1) summary

cl21455
Location:1128 → 1173

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

30831966..30895869

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525269.4 → XP_011523571.1 ATPase family AAA domain-containing protein 5 isoform X1

Conserved Domains (1) summary

cl21455
Location:1129 → 1174

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_011525270.4 → XP_011523572.1 ATPase family AAA domain-containing protein 5 isoform X2

Conserved Domains (1) summary

cl21455
Location:1129 → 1281

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_047436781.1 → XP_047292737.1 ATPase family AAA domain-containing protein 5 isoform X3
XM_047436782.1 → XP_047292738.1 ATPase family AAA domain-containing protein 5 isoform X4
XM_047436783.1 → XP_047292739.1 ATPase family AAA domain-containing protein 5 isoform X5
XM_047436784.1 → XP_047292740.1 ATPase family AAA domain-containing protein 5 isoform X6

Related

ENSP00000463102.1, ENST00000578295.5
XM_011525273.4 → XP_011523575.1 ATPase family AAA domain-containing protein 5 isoform X7

UniProtKB/TrEMBL

A0A075B754
XM_011525274.4 → XP_011523576.1 ATPase family AAA domain-containing protein 5 isoform X8

Conserved Domains (1) summary

cl21455
Location:291 → 336

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

XR_001752632.3 RNA Sequence
XR_007065465.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

31777675..31841578

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317284.1 → XP_054173259.1 ATPase family AAA domain-containing protein 5 isoform X1
XM_054317285.1 → XP_054173260.1 ATPase family AAA domain-containing protein 5 isoform X2
XM_054317286.1 → XP_054173261.1 ATPase family AAA domain-containing protein 5 isoform X3
XM_054317287.1 → XP_054173262.1 ATPase family AAA domain-containing protein 5 isoform X4
XM_054317288.1 → XP_054173263.1 ATPase family AAA domain-containing protein 5 isoform X5
XM_054317289.1 → XP_054173264.1 ATPase family AAA domain-containing protein 5 isoform X6
XM_054317290.1 → XP_054173265.1 ATPase family AAA domain-containing protein 5 isoform X7
XM_054317291.1 → XP_054173266.1 ATPase family AAA domain-containing protein 5 isoform X8