Version 5.4
Homo sapiens Protein: C21orf59
Summary
InnateDB Protein IDBP-1745.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C21orf59
Protein Name chromosome 21 open reading frame 59
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000290155
InnateDB Gene IDBG-1739 (C21orf59)
Protein Structure
UniProt Annotation
Function May play a role in motile cilia function, possibly by acting on dynein arm assembly. {ECO:0000269PubMed:24094744}.
Subcellular Localization Cytoplasm {ECO:0000250}. Note=Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization. {ECO:0000250}.
Disease Associations Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269PubMed:24094744}. Note=The disease is caused by mutations affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein- arm components and complete paralysis.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005634 nucleus
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR021298 Protein of unknown function DUF2870
PFAM PF11069
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P57076
PhosphoSite PhosphoSite-P57076
TrEMBL G8XV63
UniProt Splice Variant
Entrez Gene 56683
UniGene Hs.5811
RefSeq NP_067077
HUGO HGNC:1301
OMIM 615494
CCDS CCDS13617
HPRD 10756
IMGT
EMBL AF282851 AK223318 AP000275 BC000709 FJ649644
GenPept AAG00496 AAH00709 ACX50615 BAD97038

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