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.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004871 signal transducer activity
GO:0005515 protein binding
Biological Process
GO:0007140 male meiosis
GO:0007165 signal transduction
GO:0007275 multicellular organismal development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0031047 gene silencing by RNA
GO:0034587 piRNA metabolic process
GO:0043046 DNA methylation involved in gamete generation
Cellular Component
GO:0005737 cytoplasm
GO:0071546 pi-body
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