ATAD5 (ATPase family AAA domain containing 5)

2012-01-01  

Identity

HGNC
LOCATION
17q11.2
LOCUSID
ALIAS
C17orf41,ELG1,FRAG1
FUSION GENES

Other Information

Locus ID:

NCBI: 79915
MIM: 609534
HGNC: 25752
Ensembl: ENSG00000176208

Variants:

dbSNP: 79915
ClinVar: 79915
TCGA: ENSG00000176208
COSMIC: ATAD5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176208ENST00000321990Q96QE3
ENSG00000176208ENST00000578295A0A075B754

Expression (GTEx)

0
5
10
15
20

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
232774262013ATAD5 regulates the lifespan of DNA replication factories by modulating PCNA level on the chromatin.44
219011092011Predisposition to cancer caused by genetic and functional defects of mammalian Atad5.36
197558572009DNA damage responses by human ELG1 in S phase are important to maintain genomic integrity.31
216401072011Dynamic regulation of PCNA ubiquitylation/deubiquitylation.21
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
239376672013Alternative replication factor C protein, Elg1, maintains chromosome stability by regulating PCNA levels on chromatin.16
159833872005Frag1, a homolog of alternative replication factor C subunits, links replication stress surveillance with apoptosis.10
257951252015Elg1, a central player in genome stability.9
270454772016Rare ATAD5 missense variants in breast and ovarian cancer patients.6

Citation

Dessen P

ATAD5 (ATPase family AAA domain containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52556/atad5