PADI6
Function
Catalyzes the deimination of arginine residues of proteins (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo (PubMed:27545678).
Catalyzes the deimination of arginine residues of proteins (By similarity). In oocytes, is released during cortical reaction and plays a role in preimplantation cleavage and early embryonic development (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo (PubMed:27545678).
Involvement in disease
Oocyte/zygote/embryo maturation arrest 16
OZEMA16
A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development. Inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation at Ser-10, possibly by RSK-type kinases, and Ser-446 creates binding sites for 14-3-3 proteins.
Sequence Similarities
Belongs to the protein arginine deiminase family.
Tissue Specificity
Highly expressed in oocytes and weakly expressed in other somatic tissues.
Cellular localization
- Cytoplasm
- Nucleus
- Cytoplasmic vesicle
- Secretory vesicle
- Cortical granule
- Predominantly cytoplasmic (oocyte cytoplasmic sheets), also nuclear. Released extracellularly during the cortical reaction, and remains associated with the blastomeres surfaces as a peripheral membrane protein until the blastocyst stage of development.
Alternative names
PAD6, PADI6, Protein-arginine deiminase type-6, Peptidyl arginine deiminase-like protein, Peptidylarginine deiminase VI, Protein-arginine deiminase type VI, hPADVI