ankyrin repeat, SAM & basic leucine zipper domain-containing protein 1; ankyrin-like protein 1; germ cell-specific ankyrin, SAM & basic leucine zipper domain-containing protein (ASZ1, ALP1, ANKL1, C7orf7, GASZ)

Function: - role during spermatogenesis - represses transposable elements & prevents their mobilization - acts via piRNA metabolic process, which mediates repression of transposable elements during meiosis by forming complexes composed of piRNAs & Piwi proteins - regulates methylation & subsequent repression of transposons - association with pi-bodies suggests a participation in the primary piRNAs metabolic process - required prior to the pachytene stage to facilitate 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 - interacts with DDX4, PIWIL1, RANBP9 & TDRD1 Structure: - contains 6 ANK repeats - contains 1 SAM (sterile alpha motif) domain Compartment: - cytoplasm (putative) - 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 (putative) Expression: - expressed exclusively in the testes & ovary, testes > ovary

General

ankyrin repeat domain protein (ANKRD) basic leucine zipper (bZIP) family protein sterile alpha motif domain-containing protein (SAMD)

Properties

SIZE: MW = 53 kD entity length = 475 aa COMPARTMENT: cell nucleus MOTIF: ankyrin repeat NAME: ankyrin repeat SITE: 45-74 ankyrin repeat NAME: ankyrin repeat SITE: 78-107 ankyrin repeat NAME: ankyrin repeat SITE: 110-144 ankyrin repeat NAME: ankyrin repeat SITE: 148-177 ankyrin repeat NAME: ankyrin repeat SITE: 181-210 ankyrin repeat NAME: ankyrin repeat SITE: 214-243 sterile alpha motif NAME: sterile alpha motif SITE: 272-334

Database Correlations

OMIM 605797 UniProt Q8WWH4 PFAM correlations Entrez Gene 136991 Kegg hsa:136991

References

UniProt :accession Q8WWH4