Homo sapiens Gene: CEP164
Summary
InnateDB Gene IDBG-73243.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CEP164
Gene Name centrosomal protein 164kDa
Synonyms NPHP15
Species Homo sapiens
Ensembl Gene ENSG00000110274
Encoded Proteins
centrosomal protein 164kDa
centrosomal protein 164kDa
centrosomal protein 164kDa
centrosomal protein 164kDa
centrosomal protein 164kDa
centrosomal protein 164kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:117314557-117413268
Strand Forward strand
Band q23.3
Transcripts
ENST00000278935 ENSP00000278935
ENST00000525734 ENSP00000436609
ENST00000533153 ENSP00000436034
ENST00000525416 ENSP00000435759
ENST00000527609 ENSP00000436351
ENST00000533570 ENSP00000431302
ENST00000533675
ENST00000533706
ENST00000529153
ENST00000533223
ENST00000528706
ENST00000532187
ENST00000533433
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 1 [view]
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:0006281 DNA repair
GO:0007067 mitotic nuclear division
GO:0042384 cilium assembly
Cellular Component
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0005929 cilium
GO:0097539 ciliary transition fiber
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Regulation of PLK1 Activity at G2/M Transition pathway
Loss of Nlp from mitotic centrosomes pathway
Loss of proteins required for interphase microtubule organization√?¬†from the centrosome pathway
Recruitment of mitotic centrosome proteins and complexes pathway
Cell Cycle pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Mitotic G2-G2/M phases pathway
KEGG
INOH
PID NCI
ATR signaling pathway
Cross-References
SwissProt
TrEMBL E9PIM2 E9PR73
UniProt Splice Variant
Entrez Gene 22897
UniGene
RefSeq NM_001271933 NM_014956 XM_005271452 XM_005271453 XM_005271454 XM_005271455 XM_005271456 XM_005271457 XM_005271460 XM_006718788 XM_006718789 XM_006718792
HUGO HGNC:29182
OMIM 614848
CCDS CCDS31683
HPRD 10854
IMGT
EMBL AP000892 AP001822
GenPept
RNA Seq Atlas 22897