Version 5.4
Homo sapiens Protein: RSPH1
Summary
InnateDB Protein IDBP-4410.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RSPH1
Protein Name radial spoke head 1 homolog (Chlamydomonas)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000291536
InnateDB Gene IDBG-4408 (RSPH1)
Protein Structure
UniProt Annotation
Function May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes. {ECO:0000250, ECO:0000269PubMed:23993197}.
Subcellular Localization Cytoplasm {ECO:0000250}. Cell projection, cilium {ECO:0000269PubMed:23993197}. Note=Cytoplasmic in late spermatocytes, secondary spermatocytes and round spermatids. Gathered around metaphase chromosomes during meiotic divisions (By similarity). {ECO:0000250}.
Disease Associations Ciliary dyskinesia, primary, 24 (CILD24) [MIM:615481]: 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. Situs inversus is not observed in CILD24 patients. {ECO:0000269PubMed:23993197}. Note=The disease is caused by mutations affecting the gene represented in this entry. RSPH1 mutations result in a primary ciliary diskinesia phenotype with defects of the radial spokes and the axonemal central pair of microtubules (PubMed:23993197). {ECO:0000269PubMed:23993197}.
Tissue Specificity Expressed in trachea, lungs, airway brushings, and testes. {ECO:0000269PubMed:23993197}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007126 meiotic nuclear division
GO:0035082 axoneme assembly
Cellular Component
GO:0005634 nucleus
GO:0005829 cytosol
GO:0031514 motile cilium
Protein Structure and Domains
PDB ID
InterPro IPR003409 MORN motif
PFAM PF02493
PRINTS
PIRSF
SMART SM00698
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WYR4
PhosphoSite PhosphoSite-Q8WYR4
TrEMBL
UniProt Splice Variant
Entrez Gene 89765
UniGene Hs.661069
RefSeq NP_543136
HUGO HGNC:12371
OMIM 609314
CCDS CCDS13688
HPRD 11651
IMGT
EMBL AB006536 AB041016 AK314746 BC101519 BC113367 CH471079
GenPept AAI01520 AAI13368 BAB83694 BAB92995 BAG37286 EAX09557

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