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Aliases for ATAD5 Gene

Aliases for ATAD5 Gene

  • ATPase Family, AAA Domain Containing 5 2 3 5
  • Chromosome Fragility-Associated Gene 1 Protein 3 4
  • C17orf41 3 4
  • FRAG1 3 4
  • Enhanced Level Of Genomic Instability 1 Homolog (S. Cerevisiae) 2
  • Enhanced Level Of Genomic Instability 1 Homolog 3
  • ATPase Family AAA Domain-Containing Protein 5 3
  • Chromosome Fragility Associated Gene 1 3
  • Chromosome 17 Open Reading Frame 41 2
  • ELG1 3

External Ids for ATAD5 Gene

Previous HGNC Symbols for ATAD5 Gene

  • C17orf41

Previous GeneCards Identifiers for ATAD5 Gene

  • GC17P026185
  • GC17P029159
  • GC17P025369

Summaries for ATAD5 Gene

GeneCards Summary for ATAD5 Gene

ATAD5 (ATPase Family, AAA Domain Containing 5) is a Protein Coding gene.

UniProtKB/Swiss-Prot for ATAD5 Gene

  • Involved in DNA damage response. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages-induced apoptosis.

Additional gene information for ATAD5 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATAD5 Gene

Genomics for ATAD5 Gene

Regulatory Elements for ATAD5 Gene

Enhancers for ATAD5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H030706 1.3 ENCODE dbSUPER 42 -122.7 -122685 5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 SP3 SUZ12P1 GOSR1 ATAD5 ENSG00000266490 TEFM NF1 LRRC37BP1 SH3GL1P2 SMURF2P1 ENSG00000265791
GH17H030376 1.4 Ensembl ENCODE 27.7 -453.0 -453026 4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GOSR1 ATAD5 SMURF2P1 LRRC37BP1 SUZ12P1 ENSG00000265791 SH3GL1P2 CORO6 TMIGD1 TEFM
GH17H031548 1.6 Ensembl ENCODE dbSUPER 21.1 +718.3 718325 2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 ZNF143 FOS UTP6 SUZ12 ZNF207 ENSG00000266490 ATAD5 NF1 LRRC37BP1 SUZ12P1 SH3GL1P2 ENSG00000263990
GH17H030717 1.1 Ensembl ENCODE dbSUPER 23.9 -114.3 -114276 0 SMARCA5 CTCF ZMYM3 ZNF623 GLIS2 PATZ1 GLIS1 ZNF530 EGR2 ATAD5 RPS17P3 SMURF2P1 GC17P030711 ENSG00000279337
GH17H030968 1.3 ENCODE dbSUPER 20.2 +139.0 139014 4 HDGF FOXA2 SIN3A YY1 ZNF143 ZNF207 ATF7 RUNX3 SP3 SP5 LRRC37BP1 SUZ12 UTP6 ATAD5 GOSR1 ENSG00000264456 ENSG00000265791 SMURF2P1 TEFM RNF135
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATAD5 on UCSC Golden Path with GeneCards custom track

Promoters for ATAD5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000093036 724 1601 HDGF FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207

Genomic Location for ATAD5 Gene

Chromosome:
17
Start:
30,831,476 bp from pter
End:
30,895,869 bp from pter
Size:
64,394 bases
Orientation:
Plus strand

Genomic View for ATAD5 Gene

Genes around ATAD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATAD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATAD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATAD5 Gene

Proteins for ATAD5 Gene

  • Protein details for ATAD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QE3-ATAD5_HUMAN
    Recommended name:
    ATPase family AAA domain-containing protein 5
    Protein Accession:
    Q96QE3
    Secondary Accessions:
    • Q05DH0
    • Q69YR6
    • Q9H9I1

    Protein attributes for ATAD5 Gene

    Size:
    1844 amino acids
    Molecular mass:
    207570 Da
    Quaternary structure:
    • Interacts with RB1 predominantly in G1 phase via its LXCXE motif. Interacts with RAD9A in growing cells. The interaction with RAD9A is reduced after exposure to DNA replication-inhibiting agents. Interacts with BRD4.
    SequenceCaution:
    • Sequence=AAH15051.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB14248.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATAD5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATAD5 Gene

Post-translational modifications for ATAD5 Gene

Other Protein References for ATAD5 Gene

No data available for DME Specific Peptides for ATAD5 Gene

Domains & Families for ATAD5 Gene

Gene Families for ATAD5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for ATAD5 Gene

Suggested Antigen Peptide Sequences for ATAD5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96QE3

UniProtKB/Swiss-Prot:

ATAD5_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with ATAD5: view

Function for ATAD5 Gene

Molecular function for ATAD5 Gene

UniProtKB/Swiss-Prot Function:
Involved in DNA damage response. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages-induced apoptosis.

Phenotypes From GWAS Catalog for ATAD5 Gene

Gene Ontology (GO) - Molecular Function for ATAD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ATAD5: view
genes like me logo Genes that share phenotypes with ATAD5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATAD5
  • Applied Biological Materials Clones for ATAD5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATAD5 Gene

Localization for ATAD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATAD5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATAD5 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ATAD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ATAD5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATAD5 Gene

Pathways & Interactions for ATAD5 Gene

SuperPathways for ATAD5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATAD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002377 immunoglobulin production IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0030890 positive regulation of B cell proliferation IEA --
GO:0048304 positive regulation of isotype switching to IgG isotypes IEA --
GO:1901990 regulation of mitotic cell cycle phase transition IEA --
genes like me logo Genes that share ontologies with ATAD5: view

No data available for Pathways by source and SIGNOR curated interactions for ATAD5 Gene

Drugs & Compounds for ATAD5 Gene

No Compound Related Data Available

Transcripts for ATAD5 Gene

Unigene Clusters for ATAD5 Gene

ATPase family, AAA domain containing 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATAD5
  • Applied Biological Materials Clones for ATAD5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ATAD5 Gene

No ASD Table

Relevant External Links for ATAD5 Gene

GeneLoc Exon Structure for
ATAD5
ECgene alternative splicing isoforms for
ATAD5

Expression for ATAD5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATAD5 Gene

Protein differential expression in normal tissues from HIPED for ATAD5 Gene

This gene is overexpressed in Plasma (57.4) and Amniocyte (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATAD5 Gene



Protein tissue co-expression partners for ATAD5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATAD5 Gene:

ATAD5

SOURCE GeneReport for Unigene cluster for ATAD5 Gene:

Hs.528902

Evidence on tissue expression from TISSUES for ATAD5 Gene

  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with ATAD5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATAD5 Gene

Orthologs for ATAD5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATAD5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATAD5 33 34
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia ATAD5 33 34
  • 87.16 (n)
cow
(Bos Taurus)
Mammalia ATAD5 33 34
  • 85.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atad5 33
  • 79.23 (n)
mouse
(Mus musculus)
Mammalia Atad5 33 16 34
  • 79 (n)
oppossum
(Monodelphis domestica)
Mammalia ATAD5 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATAD5 33 34
  • 62.89 (n)
lizard
(Anolis carolinensis)
Reptilia ATAD5 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atad5 33
  • 54.21 (n)
zebrafish
(Danio rerio)
Actinopterygii atad5a 33 34
  • 51.27 (n)
atad5b 34
  • 29 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG16838 34
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y53F4B.9 34
  • 17 (a)
OneToOne
Species where no ortholog for ATAD5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATAD5 Gene

ENSEMBL:
Gene Tree for ATAD5 (if available)
TreeFam:
Gene Tree for ATAD5 (if available)

Paralogs for ATAD5 Gene

No data available for Paralogs for ATAD5 Gene

Variants for ATAD5 Gene

Sequence variations from dbSNP and Humsavar for ATAD5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000016592 -- 30,885,958(+) GTTGG(A/T)TTTTA intron-variant
rs1000064649 -- 30,888,215(+) CTTGT(C/T)ATATT intron-variant
rs1000178142 -- 30,861,307(+) CGAGT(G/T)TTTCC intron-variant
rs1000179014 -- 30,845,951(+) ATGGA(A/C)GGTCA intron-variant
rs1000267898 -- 30,881,095(+) CTTTT(C/T)TTTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATAD5 Gene

Variant ID Type Subtype PubMed ID
dgv543e199 CNV deletion 23128226
dgv5519n54 CNV loss 21841781
esv2285349 CNV deletion 18987734
esv2669402 CNV deletion 23128226
esv2715813 CNV deletion 23290073
esv2715815 CNV deletion 23290073
esv3336435 CNV insertion 20981092
esv3554307 CNV deletion 23714750
esv3554308 CNV deletion 23714750
esv3640357 CNV loss 21293372
esv3640358 CNV gain 21293372
esv3892992 CNV loss 25118596
nsv457720 CNV loss 19166990
nsv833412 CNV loss 17160897

Variation tolerance for ATAD5 Gene

Residual Variation Intolerance Score: 14.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.69; 98.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATAD5 Gene

Human Gene Mutation Database (HGMD)
ATAD5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATAD5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATAD5 Gene

Disorders for ATAD5 Gene

Relevant External Links for ATAD5

Genetic Association Database (GAD)
ATAD5
Human Genome Epidemiology (HuGE) Navigator
ATAD5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATAD5

No disorders were found for ATAD5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATAD5 Gene

Publications for ATAD5 Gene

  1. Frag1, a homolog of alternative replication factor C subunits, links replication stress surveillance with apoptosis. (PMID: 15983387) Ishii H … Furukawa Y (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3 4 60
  2. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. (PMID: 11468690) Jenne DE … Kehrer-Sawatzki H (American journal of human genetics 2001) 2 3 4 60
  3. The Brd4 extraterminal domain confers transcription activation independent of pTEFb by recruiting multiple proteins, including NSD3. (PMID: 21555454) Rahman S … Howley PM (Molecular and cellular biology 2011) 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 45 60

Products for ATAD5 Gene

  • Addgene plasmids for ATAD5

Sources for ATAD5 Gene

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