CFAP54
entrez
144535
canonical
uniprot
Q96N23
canonical
ensembl
ENSG00000188596
resolver
ensp
ENSP00000431759
resolver
genesymbol
CFAP54
resolver
genesymbol_syn
C12orf55
resolver
genesymbol_syn
C12orf63
resolver
hgnc
HGNC:26456
resolver
uniprot
E9PJL5
resolver
uniprot
Q6ZTY8
resolver
uniprot_entry
CFA54_HUMAN
resolver
uniprot_sec
E9PJL5
resolver
uniprot_sec
Q6ZTY8
resolver
amino_acid_sequence
MAAQGSPSSSPSDDSTTSGSLPELPPTSTATSRSPPESKGSSRSSLLQWTCPEDSLPLAVFYGPLDAKNPLLASCEKEIQELLGFMRKKKALATTEEEKHEFRRRCATSLFNIWTKYAPRLPADYYNEKLLKVGDSLCQMKEYKLALLQCYGRYLQQFNTNFDENKVDVTQFKATFFPKGFKDKTAGLTFHALSGKNMCNYQLVCDSDENLKNKESVVQCLHILSSLRLIMQVALPQEHLCWIIFNGTIYIYTICRKLMVIGQSSKALEYLLWASMCMESLVPLLSLRYLTWRATLYTAVCQCCYDCHAGIHGEAFARRALAKIDELRQLELMSSSKSQEESRRYFREATMKMAVMIFKRGVFESRRKNKAVFRPKIRINLREVQTLSWPRTVTERLLDEMFDSTASQFLAVLEALSDSNRRILQTGPIVTDEVEIHDVVSELFMAGKELLIMSNIGADGMLDFPKTSLLELMIGRKDVISVDAAVKFIKLAFTYEEWSLFESSAVHLIYFLQRQDDPESKKAEKDLTLLIAMEPLINVKRNKGLIFPLENYKEGQSTQIYLKKIAVHDTCLKTCGYSEDIFHLAATLYVCVCTAPQDVQPDKEIVVDTIMFLWQKCKLGIQRLNISRNDYAKFTQKISTNKWIYLLWQINEVIHCYKMEDIDIVVVAEVTLRLSEILESLGSPGRKFKQSLDVPLREGTNKFPGAPKGITEILPILQKNPVEQLLFAYKLLDRAIGGINLNCMLTSLPNGSSVIDHCYAKRTHHIDGDTYKPLASNSFMMDLHLELIQAQHRIAVVLLDKLQVLQTPTVSKDISTKGPEKLKQSGSTDCFTELNIMNKIKKNTLSKAIYLMQKALLIFEKDATSTSSWELLMEAYSLIQRIEAEQNALYSYQKYLESSKRKKSRVPPPPILLSRTHCSVTLKPAPFTSEVKVSWYCILGCKAEGSYGKVRLNNNHLPNSGEAIPADGKSVFEVKGLETNEKYVFAVAAYSNNGKLVGGAIGETTKPILVYPPLSTITARMFLTQVAYQVGNYELAKKVFSPVWDYFVASPLQDEQSVICLSNIITITQRRLHSDILAETSSILLYLFLRNIFVTSDIKIKEENLFCDNIKGNEIFPSQQIARLIECERVLVALELSNFLNDSSYALQAVTQCYGLLAPIIYHNIVLVPVVQILIKCIVVLQGLPSIVCSKKHTASFESIQHMIACCIFYITKILRSWREYDLAVMIINYGKKMLDITPGCKSLFDGSNEQEEMPEEDSSKKSLKTKKPQQILLPEKINEQLALLETHLLKLTKQYVTSELSGGEDPIFLYPVVLNWSVKGAVKEVMKFKQKPRFLEFFTQVMLKCMNEEKFHLMVEVTTPVHDFLKRRNESLLGLIKVKYKDSALNKKANKSLKFKAAVMEIGRSAEMQQRIRSKKKETLRDFIFKNPAISEMVAHERNRRTSVRKAAQRYLMDYLNPLILSYVKRKRFHRLSLEEMPWRAQMNLYLAGAHFNLVLQKLWECTKMKFGTSHMMVSFRSCDPNMFSLYNSGTVLPTRKLTVENYKAMLDFLLTAKKRKANLPSDAEEFSTFINSIMSDENMSKTQTVYDSDSQSGSSAKEKDRGANLCVMDHFMKIFLYCRRAMVLAHRGGYWTLLQNCCRALWNFTQELQILLKQAVDLDKTFPISQDGFLCTSVLPFYLGAELLIDMLIQLQNTSSIKPIEDKGEFSVPSCYGNIKNDNGGSSLTFEHPLDDVNVVDLKWIHDFVLKSLEVLYQVEKWETLVSLAIQFNTVSHERYTEQVTPLLVYAQRQLLLRIQKFKGPDITQQPCARYEAEYGEKITCRNFIGKQLKINSSTIEATSNCTDLLKMLISSEYSRAKALVCVPVDVTDTLRCFRETLEKSKYHNRSIRHSRKLLSLFLAQTQDVLQASNQRSLKVQALHSLGSLLIFAEKKRAAFKCWCQALDDIFRKPDVLHTWKEFGPSLTNVTNSHSPPGFKDYSEEFLSRVGIWGCLQGAVISAKIAQFIKSLNVEKKTDCCILSALLFQGLLRTTLPHPKAERCYAQYEITQLLPGIELFSDRYRADICSVIASLYYIIRELHFVRQNLIVLPLLALYQYFVSGICQDITRNLEARILKIEVLIDLRFFSEAFYEISQIFYGKNMPCPIPAGYKATGKMKIFQSFDSGKLLTSKENIQAIDELRNKGLPAVLVTIGQPHLLNKFNFVKAYFFLSVAATINCVPENKFKTVITNKSKPNLPNLEEIYSKDDGSSFYNLTKLKDEITLSMLKSMLLMEAEDRLNFLLSEVEQKTLSQCSAGELEIVVEARLQLAAVALQRHRAAYSAAIVFSTLTLLQDSKLFEKKVVQDDTENPVSPGTSVTENKDDSEFLDPISLNAREYFNIHLWLRCRLALVTAFVAQIHGIGIVKEDDMTDCLSLINEVCMEAKSAGDTELQAEFLTQAVILGLQEKHLKADIMTNLQDIIHLLEGNEFISPQSRLTLARSLVLLDDLTKAEKFKESPSSKTGKLNLLTRAHSILTEQMLAFGETIEFRSSNTKYANPLQPLKNIYLPHVMLLAKIKMRIGHTVAKQVYYKNKRKDPSKWLPALHLFDVALKLCRTTAVEEHEVEAEILFQKGKIERQILMEEKSPSFQLESLYEAIQLSLKNDQNSGLIRDSYLEMALLYFHLKKPKIKISGSPLTLKPPLRRSSSVKETSANKFEMYSSLAWIAIRAAAQVSEAVLAINLLIGKKNTRMHKVNQVALPNIPEFAALDLLSSYTDYLLDNYQVLFQTSCTFLYQNDDVCDSADGRKKTQTKVDITWILLLRYYIHLQRINNLSKLLASATPVSGISLPDDTLLTSLYNSELILRQKEVHFFLKKFLQLYSSSCIDEFPKELLCQLENPPLSEKDLRESSAKLYRDSSVQSILSFKPVSGSSCVDITPIEMVTQASNKELCFQWYIPPLDRPPKETEPMVLLLYAYNLKPLKISDVRHSTYNSTCVGSLWIPLNRVIAIHEKLSNLAQIAELSLPAAPEITSNENIYEVEVEEESVDNEMEDMIIQCCSEIASLFLNDKEPTPLSEVPFDISLPSIFNLERLFDLANGCILSGGSLFNWIVSIIP
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 98 (SPGF98) [MIM:621124]: An autosomal recessive, male infertility disorder characterized by abnormal sperm morphology, and reduced sperm concentration and motility. {ECO:0000269|PubMed:36593121}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Ciliary dyskinesia, primary, 54 (CILD54) [MIM:621125]: An autosomal recessive form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD54 affected individuals suffer from rhinitis, sinusitis, asthma, in addition to bronchiectasis. {ECO:0000269|PubMed:37725231}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for assembly and function of cilia and flagella. {ECO:0000250|UniProtKB:Q8C6S9}.
uniprot
proteins
mass_dalton
351970
uniprot
proteins
protein_family
CFAP54 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
36593121
uniprot
proteins
pubmed
37725231
uniprot
proteins
sequence_length
3096
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8J666}.
uniprot
proteins