FBXO43
entrez
286151
canonical
uniprot
Q4G163
canonical
ensembl
ENSG00000156509
resolver
ensp
ENSP00000403293
resolver
enst
ENST00000428847
resolver
genesymbol
FBXO43
resolver
genesymbol_syn
EMI2
resolver
hgnc
HGNC:28521
resolver
uniprot_entry
FBX43_HUMAN
resolver
amino_acid_sequence
MSFKDKDERISCLEAYVTLTSKSSRFTDETEILKMSQRHSGQAGTEAGNGADSPPIVNSKYSTFRDFCSTSSFQDSGYNELKSCSFDNIDKEYLGKKEKGPTLLYEHPETSGLGLTHPLESPTQKKKCILPRKEKDKTPELCETPKISGKKCLPRRRLNVSFALLKGDFESQNSSLESSISQVINLEKNIPSSASGFSRANNFSPLVTSTLKTEEVTSCSQKLRLNFSQQKTSTIDDSKDDCSLFEVECISPIQGNNFKDSITHDFSDSSLCINDENACPELLGSSVSGTTCGTDEDIFVTPISNLVANIRFNASQILSPSPEVRGSISTPEDSGFNSLSLEKSEDSLSDQEGSFQELLQKHKGTPKVGDTIRKTRHLGRSRRLSTLREQSSQSETEEEKQIVHPDSEKRAAAASAISEGQLSSDESGDLTFSLKNLSKTPALQLVHELFMKSKRKRLQENSGHEFLEQGDGEKIAVLQCILAGLIGKKMGIEKLDILTELKYRNLKHILAMVLESLTAESLCSVWKVSRNWREIVVQDKNANRRRKFYITQLKTDSEGAVLNVEDAATRLQLLNRSALRSVQAQARIPGSQREQGSTLSPWGEVLTPLASSSVTHLSSKQEEYVKVAKTLFTDEALKPCPRCQSPAKYQPYKKRGLCSRTACGFDFCVLCLCAYHGSEECSRGAAKPRNRKDALPGSAQSKRNLKRL
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 12 (OZEMA12) [MIM:619697]: An autosomal recessive disorder characterized by infertility due to early embryonic arrest. {ECO:0000269|PubMed:34052850}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spermatogenic failure 64 (SPGF64) [MIM:619696]: An autosomal recessive male infertility disorder characterized by oligoasthenoteratozoospermia or non-obstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage. Others show low sperm counts and reduced progressive motility. {ECO:0000269|PubMed:30878252, ECO:0000269|PubMed:34595750}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (PubMed:34052850, PubMed:34595750). Plays a vital role in modulating the ubiquitilation of CCNB1 and CDK1 during gametogenesis. {ECO:0000250|UniProtKB:Q8CDI2, ECO:0000269|PubMed:34052850, ECO:0000269|PubMed:34595750}.
uniprot
proteins
mass_dalton
78402
uniprot
proteins
mutagenesis
MUTAGEN 75..76; /note="DS->AA: Impairs ubiquitination and degradation in response to calcium."; /evidence="ECO:0000269|PubMed:15753281"; MUTAGEN 333..334; /note="DS->AA: Impairs ubiquitination and degradation in response to calcium."; /evidence="ECO:0000269|PubMed:15753281
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on Ser-76, Thr-234 and Ser-334 in response to calcium, which is a prerequisite for ubiquitination and proteasomal degradation. {ECO:0000305|PubMed:15753281, ECO:0000305|PubMed:16407128}.; PTM: Ubiquitinated in response to calcium, which promotes proteasomal degradation. {ECO:0000269|PubMed:15753281}.
uniprot
proteins
pubmed
15520277
uniprot
proteins
pubmed
15753281
uniprot
proteins
pubmed
16407128
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
30878252
uniprot
proteins
pubmed
34052850
uniprot
proteins
pubmed
34595750
uniprot
proteins
sequence_length
708
uniprot
proteins