Version 5.4
Homo sapiens Protein: WDR11
Summary
InnateDB Protein IDBP-91547.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WDR11
Protein Name WD repeat domain 11
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000263461
InnateDB Gene IDBG-91545 (WDR11)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269PubMed:20887964}. Nucleus {ECO:0000269PubMed:20887964}. Note=Might be shuttling between the nucleus and the cytoplasm.
Disease Associations Note=A chromosomal aberration involving WDR11 is found in a form of glioblastoma. Translocation t(10;19)(q26;q13.3) with ZNF320.Note=A chromosomal aberration involving WDR11 is found in a form of Kallmann syndrome. Translocation 46,XY,t(10;12)(q26.12;q13.11).Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269PubMed:20887964}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous.
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
Biological Process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
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 Q9BZH6
PhosphoSite PhosphoSite-Q9BZH6
TrEMBL S4R3Z0
UniProt Splice Variant
Entrez Gene 55717
UniGene Hs.644272
RefSeq NP_060587
HUGO HGNC:13831
OMIM 606417
CCDS CCDS7619
HPRD 16218
IMGT
EMBL AB037772 AC010998 AF320223 AK000579 AK299524 AL137699 AL391425 BC040469 BC071564
GenPept AAH40469 AAH71564 AAK08064 BAA91269 BAA92589 BAG61474 CAH56385 CAH72488

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