SPACA1
entrez
81833
canonical
uniprot
Q9HBV2
canonical
ensembl
ENSG00000118434
resolver
ensp
ENSP00000237201
resolver
enst
ENST00000237201
resolver
genesymbol
SPACA1
resolver
genesymbol_syn
SAMP32
resolver
hgnc
HGNC:14967
resolver
uniprot_entry
SACA1_HUMAN
resolver
amino_acid_sequence
MSPRGTGCSAGLLMTVGWLLLAGLQSARGTNVTAAVQDAGLAHEGEGEEETENNDSETAENYAPPETEDVSNRNVVKEVEFGMCTVTCGIGVREVILTNGCPGGESKCVVRVEECRGPTDCGWGKPISESLESVRLACIHTSPLNRFKYMWKLLRQDQQSIILVNDSAILEVRKESHPLAFECDTLDNNEIVATIKFTVYTSSELQMRRSSLPATDAALIFVLTIGVIICVFIIFLLIFIIINWAAVKAFWGAKASTPEVQSEQSSVRYKDSTSLDQLPTEMPGEDDALSEWNE
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 85 (SPGF85) [MIM:620490]: An autosomal recessive male infertility disorder characterized by globozoospermia and reduced progressive sperm motility. {ECO:0000269|PubMed:34172998}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in acrosome formation and establishment of normal sperm morphology during spermatogenesis (PubMed:34172998). Important for male fertility (PubMed:11870081). {ECO:0000269|PubMed:11870081, ECO:0000269|PubMed:34172998}.
uniprot
proteins
mass_dalton
32143
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q9DA48}.
uniprot
proteins
pubmed
11870081
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
34172998
uniprot
proteins
pubmed
38573307
uniprot
proteins
sequence_length
294
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome inner membrane {ECO:0000269|PubMed:11870081}; Single-pass type I membrane protein {ECO:0000305}. Note=Primarily found in the equatorial segment of the acrosome (PubMed:11870081). The tyrosine phosphorylated protein localizes to a smaller region within the equatorial segment (By similarity). Also expressed weakly in the principal segment (PubMed:11870081). {ECO:0000250|UniProtKB:D5K8A9, ECO:0000269|PubMed:11870081}.
uniprot
proteins
transmembrane_region
TRANSMEM 222..242; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins