ASTL
entrez
431705
canonical
uniprot
Q6HA08
canonical
ensembl
ENSG00000188886
resolver
ensp
ENSP00000343674
resolver
enst
ENST00000342380
resolver
genesymbol
ASTL
resolver
hgnc
HGNC:31704
resolver
uniprot
Q3KNT0
resolver
uniprot_entry
ASTL_HUMAN
resolver
uniprot_sec
Q3KNT0
resolver
amino_acid_sequence
MEGVGGLWPWVLGLLSLPGVILGAPLASSCAGACGTSFPDGLTPEGTQASGDKDIPAINQGLILEETPESSFLIEGDIIRPSPFRLLSATSNKWPMGGSGVVEVPFLLSSKYDEPSRQVILEALAEFERSTCIRFVTYQDQRDFISIIPMYGCFSSVGRSGGMQVVSLAPTCLQKGRGIVLHELMHVLGFWHEHTRADRDRYIRVNWNEILPGFEINFIKSQSSNMLTPYDYSSVMHYGRLAFSRRGLPTITPLWAPSVHIGQRWNLSASDITRVLKLYGCSPSGPRPRGRGSHAHSTGRSPAPASLSLQRLLEALSAESRSPDPSGSSAGGQPVPAGPGESPHGWESPALKKLSAEASARQPQTLASSPRSRPGAGAPGVAQEQSWLAGVSTKPTVPSSEAGIQPVPVQGSPALPGGCVPRNHFKGMSED
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 11 (OZEMA11) [MIM:619643]: An autosomal recessive disorder characterized by decreased or absent fertility and poor embryonic outcomes with assisted reproductive technology. {ECO:0000269|PubMed:34704130}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.-.-
uniprot
proteins
function
FUNCTION: Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding. {ECO:0000250|UniProtKB:Q6HA09}.
uniprot
proteins
mass_dalton
45936
uniprot
proteins
pubmed
15087446
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
30808003
uniprot
proteins
pubmed
34704130
uniprot
proteins
sequence_length
431
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q6HA09}. Cell membrane {ECO:0000250|UniProtKB:Q6HA09}. Cytoplasmic vesicle, secretory vesicle, Cortical granule {ECO:0000250|UniProtKB:Q6HA09}. Note=Probably exocytosed from cortical granules during post-fertilization. Detected throughout the ooplasm of germinal vesicle stage oocytes in early bilaminar secondary follicles at postnatal (PN) day 3. Detected in the microvillar domain of the oolemma in arrested ovulated secondary oocytes and in the first polar body prior to fertilization. Upon fertilization, detected in the perivitelline space (PVS) and occasionally on the oolemma in 2-cell through morulae stages. Colocalizes with SPACA3 at the microvillar domain of the oolemma and in the perivitelline space (PVS). {ECO:0000250|UniProtKB:Q6HA09}.
uniprot
proteins