CFAP221
entrez
200373
canonical
uniprot
Q4G0U5
canonical
ensembl
ENSG00000163075
resolver
ensp
ENSP00000393222
resolver
ensp
ENSP00000662805
resolver
genesymbol
CFAP221
resolver
genesymbol_syn
PCDP1
resolver
hgnc
HGNC:33720
resolver
uniprot
B4DEK0
resolver
uniprot
B4E2T5
resolver
uniprot_entry
PCDP1_HUMAN
resolver
uniprot_sec
B4DEK0
resolver
uniprot_sec
B4E2T5
resolver
amino_acid_sequence
MAVVKTPSRGLKNAKEPFNNASPHLLKNLVEEPKKRKEVPNHLLESKVYAKLVNNKVIQARPGIIHFGGYQVEKQHQQILHLVNVSNEDTRVHILPPQTKYFEINYVRKEHHLVPGLSLTVTVTFSPDEWRYYYDCIRVHCKGDDTLLVPIHAYPVMNSLDFPSFINLSNVLLGESKTYVIPLQCSCPVDFEFYITLIQSHQAFAIEPTSGIIPANGKMTVTIKFTPFQYGTAQIKMQLWISQFNSQPYECVFTGTCYPNMALPLEEFERLNTLSKKVNVPPEKAMMHINFHRPPAKPKPQKVKEIEYQNLRFPVDLSNPFAVATVLNQEPGKLKIKELREVLDQGTEISKTRQMKEALFEQKVRQDIHEEMENHLKWQVHLGKDPMSFKLKKELTEEWQKACAKYKLDRGDPILDEEFQRLKTEVSHKRVVRNQEEKIKEFHPTFDPLINNTWLSRSRAQKRFQQVARKVMIQGRLFNMLSAVREMDKESILRKIGQAKQSIAQEANFFKFFLRRISQDDYTSRFSVSPKEVLPFAFPDCSPPQDSNELAPDGLGLVPIKSSEVQIKQSYSFFNLQVPQLYKIKRYQPFSVHKSSTSYRPQKLARALKQGAEDEVTTITALPKQDSTTQLSGKTSVLSMKPPEALAMSLDYDPLYVFNPNPGLFAVMHPLTYAETLIDYHLCSHPKYKFTKESRHGSSIPVTQKQFLHHTDIIPGIMHWKSFQSLVLSSLPDPSKMETTKSCDSFNSFMLPIDVPAILDALPEEDRLETVERELCEQNVEVMLTPEMIKVEFPMLNYKDIRKEKEVKDQAQPAEKAGEKLLEEMRNLRGKALNTYLILE
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 55 (CILD55) [MIM:279000]: 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. Male infertility may result from reduced motility of spermatozoa. Some CILD55 affected individuals also exhibit obstructive azoospermia. {ECO:0000269|PubMed:31636325, ECO:0000269|PubMed:38960684, ECO:0000269|PubMed:40250778}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in cilium morphogenesis and ciliary function. {ECO:0000269|PubMed:31636325, ECO:0000269|PubMed:40250778}.
uniprot
proteins
mass_dalton
96891
uniprot
proteins
protein_family
PCDP1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18039845
uniprot
proteins
pubmed
31636325
uniprot
proteins
pubmed
38960684
uniprot
proteins
pubmed
40250778
uniprot
proteins
sequence_length
840
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:18039845, ECO:0000269|PubMed:31636325}. Cytoplasm {ECO:0000250|UniProtKB:A9Q751}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:A9Q751}. Note=Localizes to the manchette in elongating spermatids in a SPAG17-dependent manner. {ECO:0000250|UniProtKB:A9Q751}.
uniprot
proteins