Version 5.4
Homo sapiens Protein: WDR81
Summary
InnateDB Protein IDBP-361062.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WDR81
Protein Name WD repeat domain 81
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000407845
InnateDB Gene IDBG-15476 (WDR81)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2) [MIM:610185]: A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. {ECO:0000269PubMed:21885617}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. In the brain, highest levels in cerebellum and corpus callosum. {ECO:0000269PubMed:21885617}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [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
GO:0016772 transferase activity, transferring phosphorus-containing groups
Biological Process
GO:0008152 metabolic process
GO:0010923 negative regulation of phosphatase activity
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR001680 WD40 repeat
IPR017986 WD40-repeat-containing domain
PFAM PF00400
PRINTS
PIRSF
SMART SM00320
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q562E7
PhosphoSite PhosphoSite-Q562E7
TrEMBL E9PDG3
UniProt Splice Variant
Entrez Gene 124997
UniGene Hs.234572
RefSeq NP_001157283
HUGO HGNC:26600
OMIM 614218
CCDS CCDS54063
HPRD 08748
IMGT
EMBL AC130343 AK074111 AK091136 AK123896 AK127946 AK298567 AL834379 BC092513 BC114568
GenPept AAH92513 AAI14569 BAB84937 BAC03593 BAG53978 BAG54603 BAH12815 CAD39042

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