ID:ATAD5_HUMAN 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:
height Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15.
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.
ModBase Predicted Comparative 3D Structure on Q96QE3
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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.
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