UniProt Protein Function: | TSGA14: Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating to the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium. Defects in CEP41 are the cause of Joubert syndrome type 15 (JBTS15). JBTS15 is 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. Genetic variations in CEP41 may be associated with susceptibility to autism. Belongs to the CEP41 family. 5 isoforms of the human protein are produced by alternative splicing.Protein type: Unknown functionChromosomal Location of Human Ortholog: 7q32Cellular Component: centriole; centrosome; membrane; cytosolMolecular Function: protein bindingBiological Process: protein polyglutamylation; protein transport; organelle organization and biogenesis; cilium biogenesis; mitotic cell cycle; G2/M transition of mitotic cell cycleDisease: Joubert Syndrome 15; Joubert Syndrome 1 |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] |
UniProt Code: | Q9BYV8 |
NCBI GenInfo Identifier: | 380692321 |
NCBI Gene ID: | 95681 |
NCBI Accession: | NP_001244088.1 |
UniProt Secondary Accession: | Q9BYV8,Q7Z496, Q86TM1, Q8NFU8, Q9H6A3, Q9NPV3, A4D1M0 B4DQ35, F5H0V6 |
UniProt Related Accession: | Q9BYV8 |
Molecular Weight: | 31,579 Da |
NCBI Full Name: | centrosomal protein of 41 kDa isoform 3 |
NCBI Synonym Full Names: | centrosomal protein 41kDa |
NCBI Official Symbol: | CEP41Â Â |
NCBI Official Synonym Symbols: | JBTS15; TSGA14Â Â |
NCBI Protein Information: | centrosomal protein of 41 kDa; testis specific, 14; centrosomal protein 41 kDa; testis specific protein A14; testis-specific gene A14 protein |
UniProt Protein Name: | Centrosomal protein of 41 kDa |
UniProt Synonym Protein Names: | Testis-specific gene A14 protein |
Protein Family: | Centrosomal protein |
UniProt Gene Name: | CEP41Â Â |
UniProt Entry Name: | CEP41_HUMAN |