ACTL7A
entrez
10881
canonical
uniprot
Q9Y615
canonical
ensembl
ENSG00000187003
resolver
ensp
ENSP00000334300
resolver
enst
ENST00000333999
resolver
genesymbol
ACTL7A
resolver
hgnc
HGNC:161
resolver
uniprot
A0A140VK03
resolver
uniprot
B2RC83
resolver
uniprot
Q5JSV0
resolver
uniprot_entry
A0A140VK03_HUMAN
resolver
uniprot_entry
ACL7A_HUMAN
resolver
uniprot_sec
B2RC83
resolver
uniprot_sec
Q5JSV0
resolver
amino_acid_sequence
MWAPPAAIMGDGPTKKVGNQAPLQTQALQTASLRDGPAKRAVWVRHTSSEPQEPTESKAAKERPKQEVTKAVVVDLGTGYCKCGFAGLPRPTHKISTTVGKPYMETAKTGDNRKETFVGQELNNTNVHLKLVNPLRHGIIVDWDTVQDIWEYLFRQEMKIAPEEHAVLVSDPPLSPHTNREKYAEMLFEAFNTPAMHIAYQSRLSMYSYGRTSGLVVEVGHGVSYVVPIYEGYPLPSITGRLDYAGSDLTAYLLGLLNSAGNEFTQDQMGIVEDIKKKCCFVALDPIEEKKVPLSEHTIRYVLPDGKEIQLCQERFLCSEMFFKPSLIKSMQLGLHTQTVSCLNKCDIALKRDLMGNILLCGGSTMLSGFPNRLQKELSSMCPNDTPQVNVLPERDSAVWTGGSILASLQGFQPLWVHRFEYEEHGPFFLYRRCF
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 86 (SPGF86) [MIM:620499]: An autosomal recessive male infertility disorder characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure. {ECO:0000269|PubMed:32923619, ECO:0000269|PubMed:34727571, ECO:0000269|PubMed:36593593, ECO:0000269|PubMed:37004249}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for normal spermatogenesis and male fertility. Required for normal sperm head morphology, acroplaxome formation, acrosome attachment, and acrosome granule stability. May anchor and stabilize acrosomal adherence to the acroplaxome at least in part by facilitating the presence of F-actin in the subacrosomal space (By similarity). May play an important role in formation and fusion of Golgi-derived vesicles during acrosome biogenesis (PubMed:32923619). {ECO:0000250|UniProtKB:Q9QY84, ECO:0000269|PubMed:32923619}.
uniprot
proteins
mass_dalton
48644
uniprot
proteins
mutagenesis
MUTAGEN 31; /note="A->Y: Abolishes interaction with TES."; /evidence="ECO:0000269|PubMed:21278383"; MUTAGEN 41; /note="A->Y: Abolishes interaction with TES."; /evidence="ECO:0000269|PubMed:21278383
uniprot
proteins
protein_family
Actin family
uniprot
proteins
pubmed
10373328
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17644991
uniprot
proteins
pubmed
21278383
uniprot
proteins
pubmed
32923619
uniprot
proteins
pubmed
33626338
uniprot
proteins
pubmed
34727571
uniprot
proteins
pubmed
36593593
uniprot
proteins
pubmed
37004249
uniprot
proteins
pubmed
38573307
uniprot
proteins
sequence_length
435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9QY84}. Golgi apparatus {ECO:0000250|UniProtKB:Q9QY84}. Cytoplasm {ECO:0000250|UniProtKB:Q9QY84}. Nucleus {ECO:0000250|UniProtKB:Q9QY84}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:32923619, ECO:0000269|PubMed:34727571}. Note=Detected at the Golgi apparatus during acrosome biogenesis. Detected at the subacrosomal layer in round spermatids. Detected in sperm head and tail. {ECO:0000250|UniProtKB:Q9QY84}.
uniprot
proteins