CFAP298
entrez
56683
canonical
uniprot
P57076
canonical
ensembl
ENSG00000159079
resolver
ensp
ENSP00000290155
resolver
ensp
ENSP00000371989
resolver
ensp
ENSP00000411467
resolver
ensp
ENSP00000655755
resolver
enst
ENST00000290155
resolver
enst
ENST00000382549
resolver
enst
ENST00000440966
resolver
genesymbol
CFAP298
resolver
genesymbol_syn
C21orf48
resolver
genesymbol_syn
C21orf59
resolver
hgnc
HGNC:1301
resolver
uniprot
C9J818
resolver
uniprot
D3DSE6
resolver
uniprot
Q53FH0
resolver
uniprot_entry
C9J818_HUMAN
resolver
uniprot_entry
CF298_HUMAN
resolver
uniprot_entry
D3DSE6_HUMAN
resolver
uniprot_sec
Q53FH0
resolver
amino_acid_sequence
MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWGEKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPPYDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRGQGAPAREPIISSEEQKQLMLYYHRRQEELKRLEENDDDAYLNSPWADNTALKRHFHGVKDIKWRPR
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500]: 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. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:24094744}. Note=The disease is caused by variants affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis.
uniprot
proteins
function
FUNCTION: Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744). Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity). {ECO:0000250|UniProtKB:Q6DRC3, ECO:0000269|PubMed:24094744}.
uniprot
proteins
mass_dalton
33224
uniprot
proteins
protein_family
CFAP298 family
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
24094744
uniprot
proteins
pubmed
29601588
uniprot
proteins
sequence_length
290
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:29601588}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:A0A1L8HCK2}. Note=Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization. {ECO:0000250|UniProtKB:Q5U3Z0}.
uniprot
proteins