InnateDB Protein
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IDBP-41375.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CEP41
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Protein Name
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centrosomal protein 41kDa
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000342738
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InnateDB Gene
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IDBG-41371 (CEP41)
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Protein Structure
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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}.
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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.
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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.
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Tissue Specificity |
Isoform 1 and isoform 4 are expressed in testis and fetal tissues. {ECO:0000269PubMed:12034494}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001763
Rhodanese-like domain
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PFAM |
PF00581
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PRINTS |
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PIRSF |
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SMART |
SM00450
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BYV8
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PhosphoSite |
PhosphoSite-Q9BYV8
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TrEMBL |
C9JXA0
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UniProt Splice Variant |
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Entrez Gene |
95681
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UniGene |
Hs.733146
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RefSeq |
NP_001244087
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HUGO |
HGNC:12370
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OMIM |
610523
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CCDS |
CCDS59079
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HPRD |
15574
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IMGT |
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EMBL |
AC007938
AF429308
AF429309
AJ278890
AK026098
AK298618
AK314676
AL359617
AY186739
BC056162
CH236950
CH471070
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GenPept |
AAH56162
AAM43959
AAM43960
AAO31692
BAB15359
BAG37230
BAG60797
CAB94886
CAC33567
EAL24088
EAW83764
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