CEP41
entrez
95681
canonical
uniprot
Q9BYV8
canonical
ensembl
ENSG00000106477
resolver
ensp
ENSP00000223208
resolver
ensp
ENSP00000417815
resolver
ensp
ENSP00000501597
resolver
ensp
ENSP00000501735
resolver
ensp
ENSP00000502312
resolver
ensp
ENSP00000502477
resolver
ensp
ENSP00000502478
resolver
enst
ENST00000675138
resolver
enst
ENST00000675803
resolver
enst
ENST00000676312
resolver
genesymbol
CEP41
resolver
genesymbol_syn
TSGA14
resolver
hgnc
HGNC:12370
resolver
uniprot
A0A6Q8PF12
resolver
uniprot
A0A6Q8PH03
resolver
uniprot
A4D1M0
resolver
uniprot
B4DQ35
resolver
uniprot
F5H0V6
resolver
uniprot
Q7Z496
resolver
uniprot
Q86TM1
resolver
uniprot
Q8NFU8
resolver
uniprot
Q9H6A3
resolver
uniprot
Q9NPV3
resolver
uniprot_entry
A0A6Q8PF12_HUMAN
resolver
uniprot_entry
A0A6Q8PH03_HUMAN
resolver
uniprot_entry
CEP41_HUMAN
resolver
uniprot_sec
A4D1M0
resolver
uniprot_sec
B4DQ35
resolver
uniprot_sec
F5H0V6
resolver
uniprot_sec
Q7Z496
resolver
uniprot_sec
Q86TM1
resolver
uniprot_sec
Q8NFU8
resolver
uniprot_sec
Q9H6A3
resolver
uniprot_sec
Q9NPV3
resolver
amino_acid_sequence
MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 15 (JBTS15) [MIM:614464]: An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly. {ECO:0000269|PubMed:22246503}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Genetic variations in CEP41 may be associated with susceptibility to autism (PubMed:21438139). {ECO:0000269|PubMed:21438139}.
uniprot
proteins
function
FUNCTION: Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium. {ECO:0000269|PubMed:22246503}.
uniprot
proteins
mass_dalton
41368
uniprot
proteins
protein_family
CEP41 family
uniprot
proteins
pubmed
12034494
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21438139
uniprot
proteins
pubmed
22246503
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes mainly to the cilium basal body and in primary cilia.
uniprot
proteins