Version 5.4
Homo sapiens Protein: CEP89
Summary
InnateDB Protein IDBP-42363.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CEP89
Protein Name centrosomal protein 89kDa
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000306105
InnateDB Gene IDBG-42361 (CEP89)
Protein Structure
UniProt Annotation
Function Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity. {ECO:0000269PubMed:23348840, ECO:0000269PubMed:23575228}.
Subcellular Localization Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Mitochondrion intermembrane space. Note=Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.
Disease Associations Note=Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness. {ECO:0000269PubMed:23575228}.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0042384 cilium assembly
Cellular Component
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005758 mitochondrial intermembrane space
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0097539 ciliary transition fiber
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96ST8
PhosphoSite PhosphoSite-Q96ST8
TrEMBL
UniProt Splice Variant
Entrez Gene 84902
UniGene Hs.599703
RefSeq NP_116205
HUGO HGNC:25907
OMIM 615470
CCDS CCDS32987
HPRD 08601
IMGT
EMBL AC008805 AC011449 AC119048 AK027546 BC032307 BC136328
GenPept AAH32307 AAI36329 BAB55190

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca