Cfap276
entrez
75504
canonical
uniprot
Q9DAD0
canonical
ensembl
ENSMUSG00000027886
resolver
ensp
ENSMUSP00000029485
resolver
enst
ENSMUST00000029485
resolver
genesymbol
Cfap276
resolver
uniprot_entry
CF276_MOUSE
resolver
amino_acid_sequence
MLQPQETFSNPALRDEDKHLGNLWASKKSLYKNPAHLAQQQDPWSRLSSTPTATSRSRDTFFDSKIPKDDLDFRLATLYNHHTGAFKNKTEILLHQETIEDIQGTKIQFPGECFHAPSAPITSRTTIRHWINPKKESIHSIQGSIVSPHTAATNGGYSRKNDGGFFST
uniprot
proteins
function
FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:37295417, PubMed:37865089, PubMed:37989994). May play an important role for the maintenance of myelin-axon integrity (PubMed:31199454). May affect intracellular Ca(2+) homeostasis (By similarity). {ECO:0000250|UniProtKB:Q5T5A4, ECO:0000269|PubMed:31199454, ECO:0000269|PubMed:37295417, ECO:0000269|PubMed:37865089, ECO:0000269|PubMed:37989994}.
uniprot
proteins
mass_dalton
18931
uniprot
proteins
mutagenesis
MUTAGEN 121; /note="I->N: Knockin mice develop peripheral neuropathy that mimic the phenotype of intermediate forms of Charcot-Marie-Tooth disease. Knockin mice shown impairments in motor and neuromuscular functions, and aberrant myelination and axonal phenotypes."; /evidence="ECO:0000269|PubMed:31199454
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
31199454
uniprot
proteins
pubmed
37295417
uniprot
proteins
pubmed
37865089
uniprot
proteins
pubmed
37989994
uniprot
proteins
sequence_length
168
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:E1B9I5}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:37295417, ECO:0000269|PubMed:37865089, ECO:0000269|PubMed:37989994}. Cytoplasm {ECO:0000250|UniProtKB:Q5T5A4}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q5T5A4}.
uniprot
proteins