CFAP58
entrez
159686
canonical
uniprot
Q5T655
canonical
ensembl
ENSG00000120051
resolver
ensp
ENSP00000358718
resolver
enst
ENST00000369704
resolver
genesymbol
CFAP58
resolver
genesymbol_syn
C10orf80
resolver
genesymbol_syn
CCDC147
resolver
hgnc
HGNC:26676
resolver
uniprot
D3DRA6
resolver
uniprot
Q8NA27
resolver
uniprot_entry
CFA58_HUMAN
resolver
uniprot_sec
D3DRA6
resolver
uniprot_sec
Q8NA27
resolver
amino_acid_sequence
MAEEKGGKQVLEESAFEEMERDFQGVLHELSGDKSLEKFRIEYERLHAVMKKSYDNEKRLMAKCRELNAEIVVNSAKVATALKLSQDDQTTIASLKKEIEKAWKMVDSAYDKEQKAKETILALKEEIVNLTKLVEQGSGLSMDQHSNIRDLLRFKEEVTKERDQLLSEVVKLRESLAQTTEQQQETERSKEEAEHAISQFQQEIQQRQNEASREFRKKEKLEKELKQIQADMDSRQTEIKALQQYVQKSKEELQKLEQQLKEQKILNERAAKELEQFQMRNAKLQQENEQHSLVCEQLSQENQQKALELKAKEEEVHQMRLDIGKLNKIREQIHKKLHHTEDQKAEVEQHKETLKNQIVGLEREVEASKKQAELDRKAMDELLRERDILNKNMLKAVNATQKQTDLVKLHEQAKRNLEGEIQNYKDEAQKQRKIIFHLEKERDRYINQASDLTQKVLMNMEDIKVRETQIFDYRKKIAESEIKLKQQQNLYEAVRSDRNLYSKNLVEAQDEITDMKRKLKIMIHQVDELKEDISAKESALVKLHLEQQRIEKEKETLKAELQKLRQQALETKHFIEKQEAEERKLLRIIAEADGERLRQKKELDQVISERDILGSQLVRRNDELALLYEKIKIQQSVLNKGESQYNQRLEDMRILRLEIKKLRREKGILARSMANVEELRQEFFHMQRELLKERTRCRALEEELENPLNVHRWRKLEASDPNAYELIQKIHTLQKRLISKTEEVVEKELLLQEKEKLYMELKHVLARQPGPEAAEQLKLYRRTLHDKKQQLKVLSSELNMYEVQSKEYKYEVEKLTNELQNLKKKYLAQKRKEQLQKNKDTAPMDNTFLMVKPNGPGFTGGGFPLRSTKMTF
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 49 (SPGF49) [MIM:619144]: An autosomal recessive infertility disorder characterized by asthenoteratozoospermia and multiple morphologic abnormalities of the sperm flagella, primarily coiled and short flagella, with markedly reduced or absent motility. {ECO:0000269|PubMed:32791035, ECO:0000269|PubMed:33314088}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has an essential role in the assembly and organization of the sperm flagellar axoneme (PubMed:32791035). Required for the elongation of the primary cilium and sperm flagellar midpiece via modulation of the Notch signaling pathway (By similarity). {ECO:0000250|UniProtKB:B2RW38, ECO:0000269|PubMed:32791035}.
uniprot
proteins
mass_dalton
103417
uniprot
proteins
protein_family
CFAP58 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
32791035
uniprot
proteins
pubmed
33314088
uniprot
proteins
sequence_length
872
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:A8HUA1}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:32791035, ECO:0000269|PubMed:33314088}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:B2RW38}. Note=Localized to the entire flagellum and predominantly concentrated in the midpiece. Co-localizes with ODFP2 at the centrosome (By similarity). {ECO:0000250|UniProtKB:B2RW38, ECO:0000269|PubMed:32791035}.
uniprot
proteins