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

Gene ID: 79915, updated on 25-Nov-2025
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, Jul 2025]
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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Try the new Transcripts and proteins table
See ATAD5 in Genome Data Viewer
Location:
17q11.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30831966..30895869)
RS_2025_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_000017.11Genomic Context describing neighboring genes Neighboring gene SUZ12 pseudogene 1 Neighboring gene cytokine receptor like factor 3 Neighboring gene Sharpr-MPRA regulatory region 4018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29157944-29158579 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29158580-29159216 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29159217-29159851 Neighboring gene ribosomal protein S17 pseudogene 3 Neighboring gene RNA, U6 small nuclear 298, pseudogene Neighboring gene MPRA-validated peak2795 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29233994-29234794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29239185-29239684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8404 Neighboring gene transcription elongation factor, mitochondrial Neighboring gene MPRA-validated peak2796 silencer Neighboring gene ArfGAP with dual PH domains 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29284865-29285364 Neighboring gene ring finger protein 135

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Timely termination of repair DNA synthesis by ATAD5 is important in oxidative DNA damage-induced single-strand break repair. Park SH, et al. Nucleic Acids Res, 2021 Nov 18. PMID 34718749, Free PMC Article
  2. Alternative replication factor C protein, Elg1, maintains chromosome stability by regulating PCNA levels on chromatin. Shiomi Y, et al. Genes Cells, 2013 Nov. PMID 23937667
  3. Rare ATAD5 missense variants in breast and ovarian cancer patients. Maleva Kostovska I, et al. Cancer Lett, 2016 Jun 28. PMID 27045477
  4. ATAD5 restricts R-loop formation through PCNA unloading and RNA helicase maintenance at the replication fork. Kim S, et al. Nucleic Acids Res, 2020 Jul 27. PMID 32542338, Free PMC Article
  5. DNA damage responses by human ELG1 in S phase are important to maintain genomic integrity. Sikdar N, et al. Cell Cycle, 2009 Oct 1. PMID 19755857, Free PMC Article

See all (76) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. ATAD5 suppresses centrosome over-duplication by regulating UAF1 and ID1.
    Title: ATAD5 suppresses centrosome over-duplication by regulating UAF1 and ID1.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

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
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ12735

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 nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
  
involved_in DNA damage response IEA
Inferred from Electronic Annotation
more info
  
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage 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
  
acts_upstream_of_or_within positive regulation of B cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA metabolic process 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 
acts_upstream_of_or_within positive regulation of isotype switching to IgG isotypes IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell cycle phase transition IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of mitotic cell cycle phase transition IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within 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 
part_of Elg1 RFC-like complex NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
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

NEW Try the new Transcript table

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_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_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    30831966..30895869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Related
    ENSP00000603330.1, ENST00000933271.1
    Conserved Domains (1) summary
    cl21455
    Location:1129 → 1174
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. 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

  3. XM_047436781.1 → XP_047292737.1  ATPase family AAA domain-containing protein 5 isoform X3

  4. XM_047436782.1 → XP_047292738.1  ATPase family AAA domain-containing protein 5 isoform X4

    UniProtKB/TrEMBL
    A0A075B754

  5. XM_047436783.1 → XP_047292739.1  ATPase family AAA domain-containing protein 5 isoform X5

    UniProtKB/TrEMBL
    A0A075B754

  6. XM_047436784.1 → XP_047292740.1  ATPase family AAA domain-containing protein 5 isoform X6

    UniProtKB/TrEMBL
    A0A075B754
    Related
    ENSP00000463102.1, ENST00000578295.5

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

    UniProtKB/TrEMBL
    A0A075B754

  8. 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

  1. XR_001752632.3 RNA Sequence

  2. XR_007065465.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    31777675..31841578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317284.1 → XP_054173259.1  ATPase family AAA domain-containing protein 5 isoform X1

  2. XM_054317285.1 → XP_054173260.1  ATPase family AAA domain-containing protein 5 isoform X2

  3. XM_054317286.1 → XP_054173261.1  ATPase family AAA domain-containing protein 5 isoform X3

  4. XM_054317287.1 → XP_054173262.1  ATPase family AAA domain-containing protein 5 isoform X4

    UniProtKB/TrEMBL
    A0A075B754

  5. XM_054317288.1 → XP_054173263.1  ATPase family AAA domain-containing protein 5 isoform X5

    UniProtKB/TrEMBL
    A0A075B754

  6. XM_054317289.1 → XP_054173264.1  ATPase family AAA domain-containing protein 5 isoform X6

    UniProtKB/TrEMBL
    A0A075B754

  7. XM_054317290.1 → XP_054173265.1  ATPase family AAA domain-containing protein 5 isoform X7

    UniProtKB/TrEMBL
    A0A075B754

  8. XM_054317291.1 → XP_054173266.1  ATPase family AAA domain-containing protein 5 isoform X8

RNA

  1. XR_008484939.1 RNA Sequence

  2. XR_008484940.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96QE3.4 GenPept UniProtKB/Swiss-Prot:Q96QE3

Gene LinkOut

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