Homo sapiens Gene: CEP41
Summary
InnateDB Gene IDBG-41371.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CEP41
Gene Name centrosomal protein 41kDa
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000106477
Encoded Proteins
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
centrosomal protein 41kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:130393771-130442433
Strand Reverse strand
Band q32.2
Transcripts
ENST00000223208 ENSP00000223208
ENST00000343969 ENSP00000342738
ENST00000334451
ENST00000485736
ENST00000484549 ENSP00000419078
ENST00000480206
ENST00000492389 ENSP00000419192
ENST00000472739 ENSP00000417593
ENST00000477003 ENSP00000420670
ENST00000475282 ENSP00000418363
ENST00000471201 ENSP00000417463
ENST00000498527
ENST00000469826 ENSP00000418712
ENST00000482730
ENST00000489512 ENSP00000417815
ENST00000495702
ENST00000541543 ENSP00000445888
ENST00000603513
ENST00000616628 ENSP00000479252
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
Cellular Component
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0005929 cilium
GO:0016020 membrane
GO:0036064 ciliary basal body
GO:0072372 primary cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Loss of Nlp from mitotic centrosomes pathway
Recruitment of mitotic centrosome proteins and complexes pathway
Regulation of PLK1 Activity at G2/M Transition pathway
Cell Cycle pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Loss of proteins required for interphase microtubule organization√?¬†from the centrosome pathway
Mitotic G2-G2/M phases pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.368315 Hs.609856 Hs.732631 Hs.733146
RefSeq NM_001257158 NM_001257159 NM_001257160 NM_018718
HUGO
OMIM
CCDS CCDS5821 CCDS59078 CCDS59079 CCDS59080
HPRD 15574
IMGT
EMBL
GenPept
RNA Seq Atlas