CFAP300
entrez
85016
canonical
uniprot
Q9BRQ4
canonical
ensembl
ENSG00000137691
resolver
ensp
ENSP00000414390
resolver
ensp
ENSP00000433074
resolver
ensp
ENSP00000435482
resolver
ensp
ENSP00000549610
resolver
ensp
ENSP00000696913
resolver
ensp
ENSP00000696914
resolver
ensp
ENSP00000773696
resolver
enst
ENST00000526781
resolver
genesymbol
C11orf70
resolver
genesymbol
CFAP300
resolver
genesymbol_syn
C11orf70
resolver
hgnc
HGNC:28188
resolver
uniprot
E9PJU1
resolver
uniprot
E9PM77
resolver
uniprot
Q7Z2V0
resolver
uniprot_entry
CF300_HUMAN
resolver
uniprot_entry
E9PM77_HUMAN
resolver
uniprot_entry
Q7Z2V0_HUMAN
resolver
uniprot_sec
E9PJU1
resolver
amino_acid_sequence
MATGELGDLGGYYFRFLPQKTFQSLSSKEITSRLRQWSMLGRIKAQAFGFDQTFQSYRKDDFVMAFFKDPNVIPNLKLLSDSSGQWIILGTEVKKIEAINVPCTQLSMSFFHRLYDEDIVRDSGHIVKCLDSFCDPFLISDELRRVLLVEDSEKYEIFSQPDREEFLFCLFKHLCLGGALCQYEDVISPYLETTKLIYKDLVSVRKNPQTKKIQITSSVFKVSAYDSAGMCYPSAKNHEQTFSYFIVDPIRRHLHVLYHCYGVGDMS
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 38 (CILD38) [MIM:618063]: A 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. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD38 inheritance is autosomal recessive. {ECO:0000269|PubMed:29727692, ECO:0000269|PubMed:29727693}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly. {ECO:0000250|UniProtKB:A0CY51}.
uniprot
proteins
mass_dalton
30859
uniprot
proteins
protein_family
CFAP300 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
29727692
uniprot
proteins
pubmed
29727693
uniprot
proteins
sequence_length
267
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A0CY51}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A0CY51}.
uniprot
proteins