CFAP276
entrez
127003
canonical
uniprot
Q5T5A4
canonical
ensembl
ENSG00000179902
resolver
ensp
ENSP00000358961
resolver
ensp
ENSP00000358964
resolver
ensp
ENSP00000358965
resolver
ensp
ENSP00000536766
resolver
enst
ENST00000369945
resolver
genesymbol
CFAP276
resolver
genesymbol_syn
C1orf194
resolver
hgnc
HGNC:32331
resolver
uniprot
B1ALJ5
resolver
uniprot
Q5T5A3
resolver
uniprot_entry
B1ALJ5_HUMAN
resolver
uniprot_entry
CF276_HUMAN
resolver
uniprot_sec
Q5T5A3
resolver
amino_acid_sequence
MPPTRDPFQQPTLDNDDSYLGELRASKKLPYKNPTHLAQQQEPWSRLNSTPTITSMRRDAYYFDPEIPKDDLDFRLAALYNHHTGTFKNKSEILLNQKTTQDTYRTKIQFPGEFLTPPTPPITFLANIRHWINPKKESIHSIQGSIVSPHTAATNGGYSRKKDGGFFST
uniprot
proteins
disease_involvement
DISEASE: Note=CFAP276 mutations may be the cause of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Intermediate forms of Charcot-Marie-Tooth disease exist and are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269|PubMed:31199454}.
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:36191189). May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis (PubMed:31199454). {ECO:0000250|UniProtKB:E1B9I5, ECO:0000250|UniProtKB:Q9DAD0, ECO:0000269|PubMed:31199454, ECO:0000269|PubMed:36191189}.
uniprot
proteins
mass_dalton
19350
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
31199454
uniprot
proteins
pubmed
36191189
uniprot
proteins
pubmed
8889548
uniprot
proteins
sequence_length
169
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:31199454}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q9DAD0}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:31199454}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:36191189}.
uniprot
proteins