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ATAD5 (ATPase family AAA domain containing 5)

Identity

Alias (NCBI)C17orf41
ELG1
FRAG1
HGNC (Hugo) ATAD5
HGNC Alias symbFLJ12735
FRAG1
ELG1
HGNC Alias nameenhanced level of genomic instability 1 homolog (S. cerevisiae)
HGNC Previous nameC17orf41
HGNC Previous namechromosome 17 open reading frame 41
LocusID (NCBI) 79915
Atlas_Id 52556
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 30831966 and ends at 30895865 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATAD5 (17q11.2) / EFCAB5 (17q11.2)ATAD5 (17q11.2) / MN1 (22q12.1)ATAD5 (17q11.2) / PTP4A1 (6q12)
ATAD5 (17q11.2) / SIPA1L3 (19q13.13)NF1 (17q11.2) / ATAD5 (17q11.2)SRP19 (5q22.2) / ATAD5 (17q11.2)
ATAD5 17q11.2 / EFCAB5 17q11.2ATAD5 17q11.2 / PTP4A1 6q12ATAD5 17q11.2 / SIPA1L3 19q13.13
NF1 17q11.2 / ATAD5 17q11.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)ATAD5   25752
Cards
Entrez_Gene (NCBI)ATAD5    ATPase family AAA domain containing 5
AliasesC17orf41; ELG1; FRAG1
GeneCards (Weizmann)ATAD5
Ensembl hg19 (Hinxton)ENSG00000176208 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176208 [Gene_View]  ENSG00000176208 [Sequence]  chr17:30831966-30895865 [Contig_View]  ATAD5 [Vega]
ICGC DataPortalENSG00000176208
TCGA cBioPortalATAD5
AceView (NCBI)ATAD5
Genatlas (Paris)ATAD5
SOURCE (Princeton)ATAD5
Genetics Home Reference (NIH)ATAD5
Genomic and cartography
GoldenPath hg38 (UCSC)ATAD5  -     chr17:30831966-30895865 +  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATAD5  -     17q11.2   [Description]    (hg19-Feb_2009)
GoldenPathATAD5 - 17q11.2 [CytoView hg19]  ATAD5 - 17q11.2 [CytoView hg38]
ImmunoBaseENSG00000176208
Genome Data Viewer NCBIATAD5 [Mapview hg19]  
OMIM609534   
Gene and transcription
Genbank (Entrez)AJ314648 AK022797 AL832103 AY557611 BC015051
RefSeq transcript (Entrez)NM_024857
Consensus coding sequences : CCDS (NCBI)ATAD5
Gene ExpressionATAD5 [ NCBI-GEO ]   ATAD5 [ EBI - ARRAY_EXPRESS ]   ATAD5 [ SEEK ]   ATAD5 [ MEM ]
Gene Expression Viewer (FireBrowse)ATAD5 [ Firebrowse - Broad ]
GenevisibleExpression of ATAD5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79915
GTEX Portal (Tissue expression)ATAD5
Human Protein AtlasENSG00000176208-ATAD5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96QE3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96QE3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96QE3
PhosPhoSitePlusQ96QE3
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA (PF00004)   
Domain families : Pfam (NCBI)pfam00004   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ATAD5
SuperfamilyQ96QE3
AlphaFold pdb e-kbQ96QE3   
Human Protein Atlas [tissue]ENSG00000176208-ATAD5 [tissue]
HPRD07792
Protein Interaction databases
DIP (DOE-UCLA)Q96QE3
IntAct (EBI)Q96QE3
BioGRIDATAD5
STRING (EMBL)ATAD5
ZODIACATAD5
Ontologies - Pathways
QuickGOQ96QE3
Ontology : AmiGODNA binding  protein binding  ATP binding  nucleus  cellular response to DNA damage stimulus  Elg1 RFC-like complex  positive regulation of DNA replication  DNA clamp unloader activity  DNA clamp unloader activity  DNA clamp unloading  positive regulation of cell cycle G2/M phase transition  
Ontology : EGO-EBIDNA binding  protein binding  ATP binding  nucleus  cellular response to DNA damage stimulus  Elg1 RFC-like complex  positive regulation of DNA replication  DNA clamp unloader activity  DNA clamp unloader activity  DNA clamp unloading  positive regulation of cell cycle G2/M phase transition  
NDEx NetworkATAD5
Atlas of Cancer Signalling NetworkATAD5
Wikipedia pathwaysATAD5
Orthology - Evolution
OrthoDB79915
GeneTree (enSembl)ENSG00000176208
Phylogenetic Trees/Animal Genes : TreeFamATAD5
Homologs : HomoloGeneATAD5
Homology/Alignments : Family Browser (UCSC)ATAD5
Gene fusions - Rearrangements
Fusion : MitelmanATAD5/EFCAB5 [17q11.2/17q11.2]  
Fusion : MitelmanATAD5/PTP4A1 [17q11.2/6q12]  
Fusion : MitelmanATAD5/SIPA1L3 [17q11.2/19q13.13]  
Fusion : MitelmanNF1/ATAD5 [17q11.2/17q11.2]  
Fusion : QuiverATAD5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATAD5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATAD5
dbVarATAD5
ClinVarATAD5
MonarchATAD5
1000_GenomesATAD5 
Exome Variant ServerATAD5
GNOMAD BrowserENSG00000176208
Varsome BrowserATAD5
ACMGATAD5 variants
VarityQ96QE3
Genomic Variants (DGV)ATAD5 [DGVbeta]
DECIPHERATAD5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATAD5 
Mutations
ICGC Data PortalATAD5 
TCGA Data PortalATAD5 
Broad Tumor PortalATAD5
OASIS PortalATAD5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATAD5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DATAD5
Mutations and Diseases : HGMDATAD5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaATAD5
DgiDB (Drug Gene Interaction Database)ATAD5
DoCM (Curated mutations)ATAD5
CIViC (Clinical Interpretations of Variants in Cancer)ATAD5
Cancer3DATAD5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609534   
Orphanet
DisGeNETATAD5
MedgenATAD5
Genetic Testing Registry ATAD5
NextProtQ96QE3 [Medical]
GENETestsATAD5
Target ValidationATAD5
Huge Navigator ATAD5 [HugePedia]
ClinGenATAD5
Clinical trials, drugs, therapy
MyCancerGenomeATAD5
Protein Interactions : CTDATAD5
Pharm GKB GenePA162377100
PharosQ96QE3
Clinical trialATAD5
Miscellaneous
canSAR (ICR)ATAD5
HarmonizomeATAD5
DataMed IndexATAD5
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATAD5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:00:24 CEST 2021

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