Version 5.4
Homo sapiens Protein: WDR60
Summary
InnateDB Protein IDBP-293606.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WDR60
Protein Name WD repeat domain 60
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000384290
InnateDB Gene IDBG-51226 (WDR60)
Protein Structure
UniProt Annotation
Function May play a role in ciliogenesis. {ECO:0000269PubMed:23910462}.
Subcellular Localization Cell projection, cilium {ECO:0000269PubMed:23910462}. Note=Located at the base of the primary cilium in serum-starved fibroblasts.
Disease Associations Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) [MIM:615503]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269PubMed:23910462}. Note=The disease is caused by mutations affecting the gene represented in this entry. Fibroblasts from affected individuals exhibit a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme.
Tissue Specificity Expressed in chondrocytes (at protein level). {ECO:0000269PubMed:23910462}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [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:0030030 cell projection organization
Cellular Component
GO:0005615 extracellular space
GO:0005929 cilium
GO:0070062 extracellular vesicular exosome
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 Q8WVS4
PhosphoSite PhosphoSite-Q8WVS4
TrEMBL H7C1E8
UniProt Splice Variant
Entrez Gene 55112
UniGene Hs.389945
RefSeq NP_060521
HUGO HGNC:21862
OMIM 615462
CCDS CCDS47757
HPRD 08545
IMGT
EMBL AC004863 AC124833 AK001162 BC014491 CH236954
GenPept AAH14491 BAA91528 EAL23932

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