Version 5.4
Homo sapiens Protein: WDR45
Summary
InnateDB Protein IDBP-65377.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WDR45
Protein Name WD repeat domain 45
Synonyms NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4;
Species Homo sapiens
Ensembl Protein ENSP00000365546
InnateDB Gene IDBG-65371 (WDR45)
Protein Structure
UniProt Annotation
Function Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. {ECO:0000269PubMed:23435086}.
Subcellular Localization
Disease Associations Neurodegeneration with brain iron accumulation 5 (NBIA5) [MIM:300894]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. {ECO:0000269PubMed:23435086}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors. {ECO:0000269PubMed:15602573}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [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:0006914 autophagy
GO:0008219 cell death
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 Q9Y484
PhosphoSite PhosphoSite-Q9Y484
TrEMBL C9J7Q8
UniProt Splice Variant
Entrez Gene 11152
UniGene Hs.632807
RefSeq
HUGO HGNC:28912
OMIM 300526
CCDS CCDS14318
HPRD 06597
IMGT
EMBL AF196779 AJ005897 AY691428 BC000464 BC003037 BC009027 BC069206 CH471224 CR456725
GenPept AAH00464 AAH03037 AAH09027 AAH69206 AAV80764 CAA06754 CAG33006 EAW50697 EAW50702

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