InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CEP41

Summary

InnateDB Protein

IDBP-584068.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CEP41

Protein Name

centrosomal protein 41kDa

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000445888

InnateDB Gene

IDBG-41371 (CEP41)

Protein Structure

UniProt Annotation

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:0000269PubMed:22246503}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes mainly to the cilium basal body and in primary cilia.

Disease Associations

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:0000269PubMed:22246503}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Genetic variations in CEP41 may be associated with susceptibility to autism.

Tissue Specificity

Isoform 1 and isoform 4 are expressed in testis and fetal tissues. {ECO:0000269PubMed:12034494}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0015031	protein transport
GO:0018095	protein polyglutamylation
GO:0042384	cilium assembly