ACTL9
entrez
284382
canonical
uniprot
Q8TC94
canonical
ensembl
ENSG00000181786
resolver
ensp
ENSP00000316674
resolver
enst
ENST00000324436
resolver
genesymbol
ACTL9
resolver
genesymbol_syn
ACTL7C
resolver
hgnc
HGNC:28494
resolver
uniprot
A8K893
resolver
uniprot
Q6X960
resolver
uniprot_entry
ACTL9_HUMAN
resolver
uniprot_sec
A8K893
resolver
uniprot_sec
Q6X960
resolver
amino_acid_sequence
MDASRPKSSESQSSLEAPRPGPNPSPNVVNKPLQRDSPGMVADRLPPKTGAVVIDMGTGTCKVGFAGQASPTYTVATILGCQPKKPATSGQSGLQTFIGEAARVLPELTLVQPLRSGIVVDWDAAELIWRHLLEHDLRVATHDHPLLFSDPPFSPATNREKLVEVAFESLRSPAMYVASQSVLSVYAHGRVSGLVVDTGHGVTYTVPVFQGYNLLHATERLDLAGNNLTAFLAEMLLQAGLPLGQQDLDLVENIKHHYCYVASDFQKEQARPEQEYKRTLKLPDGRTVTLGKELFQCPELLFNPPEVPGLSPVGLSTMAKQSLRKLSLEMRADLAQNVLLCGGSSLFTGFEGRFRAELLRALPAETHVVVAAQPTRNFSVWIGGSILASLRAFQSCWVLREQYEEQGPYIVYRKCY
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 53 (SPGF53) [MIM:619258]: An autosomal recessive infertility disorder characterized by impaired oocyte fertilization due to oocyte activation failure, in association with structural anomalies in sperm heads. {ECO:0000269|PubMed:33626338}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Testis-specic protein that plays an important role in fusion of proacrosomal vesicles and perinuclear theca formation. {ECO:0000269|PubMed:33626338}.
uniprot
proteins
mass_dalton
45516
uniprot
proteins
protein_family
Actin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
33626338
uniprot
proteins
sequence_length
416
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:33626338}. Cytoplasm, cytoskeleton, perinuclear theca {ECO:0000269|PubMed:33626338}. Note=Localizes predominantly in the equatorial segment of the sperm head and neck regions, with some localization in the acrosomal segment of the head. Colocalizes in the acrosomal and equatorial segments of sperm with ACTL7A. Colocalizes with PLCZ1 in the equatorial segment of the head of capacitated sperm. {ECO:0000269|PubMed:33626338}.
uniprot
proteins