CFAP69
entrez
79846
canonical
uniprot
A5D8W1
canonical
ensembl
ENSG00000105792
resolver
ensp
ENSP00000373948
resolver
ensp
ENSP00000419549
resolver
ensp
ENSP00000537443
resolver
ensp
ENSP00000619831
resolver
genesymbol
CFAP69
resolver
genesymbol_syn
C7orf63
resolver
hgnc
HGNC:26107
resolver
uniprot
A3KMP9
resolver
uniprot
B4DYW6
resolver
uniprot
B4DZP7
resolver
uniprot
B9EIM7
resolver
uniprot
Q6V705
resolver
uniprot
Q8IY89
resolver
uniprot
Q9H7C2
resolver
uniprot_entry
CFA69_HUMAN
resolver
uniprot_sec
A3KMP9
resolver
uniprot_sec
B4DYW6
resolver
uniprot_sec
B4DZP7
resolver
uniprot_sec
B9EIM7
resolver
uniprot_sec
Q6V705
resolver
uniprot_sec
Q8IY89
resolver
uniprot_sec
Q9H7C2
resolver
amino_acid_sequence
MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 24 (SPGF24) [MIM:617959]: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate. {ECO:0000269|PubMed:29606301}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability (PubMed:29606301). {ECO:0000250|UniProtKB:Q8BH53, ECO:0000269|PubMed:29606301}.
uniprot
proteins
mass_dalton
105883
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
29606301
uniprot
proteins
sequence_length
941
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q8BH53}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:29606301}. Note=Localizes to the midpiece of the sperm flagellum. {ECO:0000269|PubMed:29606301}.
uniprot
proteins