Homo sapiens Protein: ASZ1 | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||
InnateDB Protein | IDBP-37618.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | ASZ1 | ||||||||||||||||||
Protein Name | ankyrin repeat, SAM and basic leucine zipper domain containing 1 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000284629 | ||||||||||||||||||
InnateDB Gene | IDBG-37616 (ASZ1) | ||||||||||||||||||
Protein Structure |
![]() |
||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Plays a central role during spermatogenesis by repressing transposable elements and preventing 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 governs 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 the regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity). {ECO:0000250}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000250}. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Specifically localizes to pi-bodies, a subset of the nuage which contains primary piRNAs (By similarity). {ECO:0000250}. | ||||||||||||||||||
Disease Associations | |||||||||||||||||||
Tissue Specificity | Expressed exclusively in the testis and ovary and at higher levels in the adult testis compared with the adult ovary. {ECO:0000269PubMed:12040005}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR002110
Ankyrin repeat IPR011510 Sterile alpha motif, type 2 IPR013761 Sterile alpha motif/pointed domain IPR020683 Ankyrin repeat-containing domain IPR021129 Sterile alpha motif, type 1 |
||||||||||||||||||
PFAM |
PF00023
PF13606 PF07647 PF11929 PF12796 PF00536 |
||||||||||||||||||
PRINTS |
PR01415
|
||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00248
|
||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q8WWH4 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q8WWH4 | ||||||||||||||||||
TrEMBL | C9JP59 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 136991 | ||||||||||||||||||
UniGene | Hs.352412 | ||||||||||||||||||
RefSeq | NP_570124 | ||||||||||||||||||
HUGO | HGNC:1350 | ||||||||||||||||||
OMIM | 605797 | ||||||||||||||||||
CCDS | CCDS5772 | ||||||||||||||||||
HPRD | 10677 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC002465 AF461259 AK093445 BC126186 BC126188 BC144212 CH236947 | ||||||||||||||||||
GenPept | AAI26187 AAI26189 AAI44213 AAL68815 BAC04167 EAL24354 | ||||||||||||||||||