CFAP251
entrez
144406
canonical
uniprot
Q8TBY9
canonical
ensembl
ENSG00000158023
resolver
ensp
ENSP00000288912
resolver
ensp
ENSP00000380595
resolver
genesymbol
CFAP251
resolver
genesymbol_syn
WDR66
resolver
hgnc
HGNC:28506
resolver
uniprot
C9J1W2
resolver
uniprot
Q8IYA3
resolver
uniprot
Q8N898
resolver
uniprot
Q8NDE7
resolver
uniprot_entry
CF251_HUMAN
resolver
uniprot_sec
C9J1W2
resolver
uniprot_sec
Q8IYA3
resolver
uniprot_sec
Q8N898
resolver
uniprot_sec
Q8NDE7
resolver
amino_acid_sequence
MSDAAEAPREATGENGETEMKEEEEPNPNYKEVEDPQQESKDDTIAWRESQEEERKTGEEEGEEEGKEDKKIVMEETEEKAGEVQEKEASGIQEETTVEPQEVTASMIRLETQITDSQSITSGIFPKTQRGSKSKLSLQLEDAETDELLRDLSTQIEFLDLDQISPEEQQISSPERQPSGELEEKTDRMPQDELGQERRDLEPENREEGQERRVSDIQSKAGISRESLVSSTTEDILFQKDKSTPVYPLTMTWSFGWNSSLPVYYIREERQRVLLYVCAHTAIIYNVFRNNQYHLQGHANIISCLCVSEDRRWIATADKGPDCLVIIWDSFTGIPVHTIFDSCPEGNGIMAMAMTHDAKYLATISDAEVQKVCIWKWTLAVETPACTLELPTEYGVQNYVTFNPTNNKELVSNSKTRAIYYAWYEERDTLAHSAPLLTEKTFNKLVGKFSQSIFHLNLTQILSATMEGKLVVWDIHRPPSSASTFLGFPYIKPCKLVHLQKEGITVLTTIDSYIVTGDIKGNIKFYDHTLSIVNWYSHLKLGAIRTLSFSKTPATPPTEKSNYPPDCTLKGDLFVLRNFIIGTSDAAVYHLTTDGTKLEKLFVEPKDAICAISCHPYQPLIAIGSICGMIKVWNYENKQYLFSRVFEKGLGVQSLTYNPEGALLGAGFTEGTVYILDAMSLENESPEPFKYSRTSVTHISFSHDSQYMATADRSFTVAVYMLVVRNGQRVWEYLARLRSHRKSIRSLLFGVYLDSNEPRLLSLGTDRLLIEYDLLRSYKDHLEVLDIHHTDQGCYPTCMVWYPPLTRELFLLICNSGYKVKLFNATTKMCRKTLLGPAYGSPIEQTQVLPVRSMAELQKRYLVFINRDKVGLQILPVDGNPHKTSAIVCHPNGVAGMAVSYDGCYAFTAGGHDRSVVQWKITLSVLEAAVSLGGEDLTPFYGLLSGGREGKFYRELEDYFYYSQLRSQGIDTMETRKVSEHICLSELPFVMRAIGFYPSEEKIDDIFNEIKFGEYVDTGKLIDKINLPDFLKVYLNHKPPFGNTMSGIHKSFEVLGYTNSKGKKAIRREDFLRLLVTKGEHMTEEEMLDCFASLFGLNPEGWKSEPATCSVKGSEICLEEELPDEITAEIFATEILGLTISEDSGQDGQ
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 33 (SPGF33) [MIM:618152]: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including short, bent, curled, thick, or absent flagella. {ECO:0000269|PubMed:30122540, ECO:0000269|PubMed:30122541}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in spermatozoa motility (PubMed:30122540, PubMed:30122541). May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity). {ECO:0000250|UniProtKB:A8IRK7, ECO:0000250|UniProtKB:Q24DE2, ECO:0000269|PubMed:30122540, ECO:0000269|PubMed:30122541}.
uniprot
proteins
mass_dalton
129952
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
30122540
uniprot
proteins
pubmed
30122541
uniprot
proteins
sequence_length
1149
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8IRK7}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:30122540, ECO:0000269|PubMed:30122541}.
uniprot
proteins