ATAD5
ATPase Family AAA Domain Containing 5
Gene Information Card
| Symbol | ATAD5 |
|---|---|
| Full Name | ATPase Family AAA Domain Containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 79915 ncbi.nlm.nih.gov/gene/79915 |
| Ensembl ID | ENSG00000108771 |
| UniProt ID | Q96QE3 |
| OMIM ID | 610654 |
| HGNC ID | 25969 |
| Aliases | ELG1, FRAG1, C17orf41 |
Description
ATAD5 (ATPase Family AAA Domain Containing 5) encodes a protein involved in DNA replication and genomic stability. It functions as a component of the alternative replication factor C (RFC) complex, facilitating the unloading of PCNA from chromatin during DNA replication and repair. ATAD5 is also implicated in the Fanconi anemia pathway and is frequently mutated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia | ATAD5 mutations impair DNA repair and genomic stability, contributing to bone marrow failure and cancer predisposition. | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and loss of heterozygosity at the ATAD5 locus are associated with microsatellite instability and tumor progression. | COSMIC, NCBI |
| Breast cancer | ATAD5 expression alterations and mutations are observed in breast tumors, potentially affecting DNA damage response. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 10.8 | Medium |
| Lymph node | 8.5 | Low |
| Brain | 4.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| MCF7 | 7.2 | Breast cancer cells |
| HCT116 | 6.4 | Colorectal cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2125C>T (p.Arg709*) | Nonsense | <1% | Loss of function; truncation of protein |
| c.1234_1235del (p.Lys412fs) | Frameshift | <1% | Loss of function; premature stop codon |
| c.3457G>A (p.Glu1153Lys) | Missense | <1% | Unknown; potential impact on ATPase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent ATAD5 protein, impairing PCNA unloading and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported in ATAD5.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by disrupting RFC complex assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication | • PCNA unloading |
| • DNA repair | • ATP binding |
| • ATPase activity | • chromatin binding |
| • nucleus |
Pathways
• Fanconi anemia pathway
• DNA replication
• PCNA unloading
Protein Summary
ATAD5 is a 1,842-amino acid protein containing an AAA+ ATPase domain. It forms an alternative RFC complex with RFC2-5 to unload PCNA from DNA after replication or repair. This activity is essential for maintaining genomic stability and preventing replication stress. ATAD5 is also involved in the Fanconi anemia pathway, interacting with FANCD2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATAD5 Knockout HEK293 Cell Line | EDJ-KQ12463 | Human | 79915 | Details Get a Quote |
| ATAD5 Knockout A-549 Cell Line | EDJ-KQ41404 | Human | 79915 | Details Get a Quote |
| ATAD5 Knockout HCT 116 Cell Line | EDJ-KQ41405 | Human | 79915 | Details Get a Quote |
| ATAD5 Knockout HeLa Cell Line | EDJ-KQ41406 | Human | 79915 | Details Get a Quote |
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