Human Gene ATAD5 (uc002hfs.1) Description and Page Index
  Description: Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr17:29,159,023-29,222,295 Size: 63,273 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr17:29,159,366-29,221,931 Size: 62,566 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:29,159,023-29,222,295)mRNA (may differ from genome)Protein (1844 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=ATPase family AAA domain-containing protein 5; AltName: Full=Chromosome fragility-associated gene 1 protein;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus (Potential).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. ATR may stimulate the RAD9A dissociation.
SIMILARITY: Belongs to the AAA ATPase family.
SEQUENCE CAUTION: Sequence=AAH15051.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAB14248.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATAD5
CDC HuGE Published Literature: ATAD5
Positive Disease Associations: height
Related Studies:
  1. height
    Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15. [PubMed 18391951]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.53 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 37.21 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -156.74343-0.457 Picture PostScript Text
3' UTR -72.40364-0.199 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR003959 - ATPase_AAA_core

Pfam Domains:
PF00004 - ATPase family associated with various cellular activities (AAA)

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q96QE3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding

Biological Process:
GO:0002377 immunoglobulin production
GO:0006974 cellular response to DNA damage stimulus
GO:0030890 positive regulation of B cell proliferation
GO:0048304 positive regulation of isotype switching to IgG isotypes
GO:1901990 regulation of mitotic cell cycle phase transition

Cellular Component:
GO:0005634 nucleus

-  Descriptions from all associated GenBank mRNAs
  AL832103 - Homo sapiens mRNA; cDNA DKFZp313B198 (from clone DKFZp313B198).
BC015051 - Homo sapiens ATPase family, AAA domain containing 5, mRNA (cDNA clone IMAGE:3909735), partial cds.
AJ314648 - Homo sapiens mRNA for putative ATP(GTP)-binding protein.
AY557611 - Homo sapiens chromosome fragility associated gene 1 mRNA, complete cds.
LF384776 - JP 2014500723-A/192279: Polycomb-Associated Non-Coding RNAs.
JD404518 - Sequence 385542 from Patent EP1572962.
JD216509 - Sequence 197533 from Patent EP1572962.
JD119641 - Sequence 100665 from Patent EP1572962.
JD476640 - Sequence 457664 from Patent EP1572962.
JD195804 - Sequence 176828 from Patent EP1572962.
AB527112 - Synthetic construct DNA, clone: pF1KB7341, Homo sapiens ATAD5 gene for ATPase family, AAA domain containing 5, without stop codon, in Flexi system.
BC148343 - Synthetic construct Homo sapiens clone IMAGE:100015267, MGC:182962 ATPase family, AAA domain containing 5 (ATAD5) mRNA, encodes complete protein.
LF326954 - JP 2014500723-A/134457: Polycomb-Associated Non-Coding RNAs.
LF326955 - JP 2014500723-A/134458: Polycomb-Associated Non-Coding RNAs.
LF326956 - JP 2014500723-A/134459: Polycomb-Associated Non-Coding RNAs.
LF326957 - JP 2014500723-A/134460: Polycomb-Associated Non-Coding RNAs.
LF326958 - JP 2014500723-A/134461: Polycomb-Associated Non-Coding RNAs.
AK022797 - Homo sapiens cDNA FLJ12735 fis, clone NT2RP2000258, weakly similar to ACTIVATOR 1 140 KD SUBUNIT.
LF326959 - JP 2014500723-A/134462: Polycomb-Associated Non-Coding RNAs.
LF326960 - JP 2014500723-A/134463: Polycomb-Associated Non-Coding RNAs.
LF326961 - JP 2014500723-A/134464: Polycomb-Associated Non-Coding RNAs.
LF326962 - JP 2014500723-A/134465: Polycomb-Associated Non-Coding RNAs.
LF326964 - JP 2014500723-A/134467: Polycomb-Associated Non-Coding RNAs.
LF326965 - JP 2014500723-A/134468: Polycomb-Associated Non-Coding RNAs.
LF326966 - JP 2014500723-A/134469: Polycomb-Associated Non-Coding RNAs.
LF326969 - JP 2014500723-A/134472: Polycomb-Associated Non-Coding RNAs.
LF326970 - JP 2014500723-A/134473: Polycomb-Associated Non-Coding RNAs.
JD237892 - Sequence 218916 from Patent EP1572962.
MA620353 - JP 2018138019-A/192279: Polycomb-Associated Non-Coding RNAs.
MA562531 - JP 2018138019-A/134457: Polycomb-Associated Non-Coding RNAs.
MA562532 - JP 2018138019-A/134458: Polycomb-Associated Non-Coding RNAs.
MA562533 - JP 2018138019-A/134459: Polycomb-Associated Non-Coding RNAs.
MA562534 - JP 2018138019-A/134460: Polycomb-Associated Non-Coding RNAs.
MA562535 - JP 2018138019-A/134461: Polycomb-Associated Non-Coding RNAs.
MA562536 - JP 2018138019-A/134462: Polycomb-Associated Non-Coding RNAs.
MA562537 - JP 2018138019-A/134463: Polycomb-Associated Non-Coding RNAs.
MA562538 - JP 2018138019-A/134464: Polycomb-Associated Non-Coding RNAs.
MA562539 - JP 2018138019-A/134465: Polycomb-Associated Non-Coding RNAs.
MA562541 - JP 2018138019-A/134467: Polycomb-Associated Non-Coding RNAs.
MA562542 - JP 2018138019-A/134468: Polycomb-Associated Non-Coding RNAs.
MA562543 - JP 2018138019-A/134469: Polycomb-Associated Non-Coding RNAs.
MA562546 - JP 2018138019-A/134472: Polycomb-Associated Non-Coding RNAs.
MA562547 - JP 2018138019-A/134473: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ATAD5_HUMAN, C17orf41, FRAG1, NM_024857, NP_079133, Q05DH0, Q69YR6, Q96QE3, Q9H9I1
UCSC ID: uc002hfs.1
RefSeq Accession: NM_024857
Protein: Q96QE3 (aka ATAD5_HUMAN)
CCDS: CCDS11260.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_024857.3
exon count: 23CDS single in 3' UTR: no RNA size: 6245
ORF size: 5535CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 10515.00frame shift in genome: no % Coverage: 99.95
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.