ID:ASZ1_HUMAN DESCRIPTION: RecName: Full=Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1; AltName: Full=Ankyrin-like protein 1; AltName: Full=Germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein; FUNCTION: Plays a central role during spermatogenesis by repressing transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the production of multiple types of piRNAs, including those associated with repeats involved in regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity). SUBUNIT: Interacts with DDX4, PIWIL1, RANBP9 and TDRD1 (By similarity). SUBCELLULAR LOCATION: Cytoplasm (By similarity). Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon during meiosis. Specifically localizes to pi-bodies, a subset of the nuage which contains primary piRNAs (By similarity). TISSUE SPECIFICITY: Expressed exclusively in the testis and ovary and at higher levels in the adult testis compared with the adult ovary. SIMILARITY: Contains 6 ANK repeats. SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.
Cardiovascular Diseases Martin G Larson et al. BMC medical genetics 2007, Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes., BMC medical genetics.
[PubMed 17903304]
No association attained genome-wide significance, but several intriguing findings emerged. Notably, we replicated associations of chromosome 9p21 with major CVD. Additional studies are needed to validate these results. Finding genetic variants associated with CVD may point to novel disease pathways and identify potential targeted preventive therapies.
Coronary Artery Disease Heribert Schunkert et al. Nature genetics 2011, Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease., Nature genetics.
[PubMed 21378990]
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 Q8WWH4
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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.
US Server
