Version 5.4
Homo sapiens Protein: RSPH4A
Summary
InnateDB Protein IDBP-95711.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RSPH4A
Protein Name radial spoke head 4 homolog A (Chlamydomonas)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000357569
InnateDB Gene IDBG-95705 (RSPH4A)
Protein Structure
UniProt Annotation
Function Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. {ECO:0000269PubMed:19200523}.
Subcellular Localization Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}. Cell projection, cilium. Note=Radial spoke. {ECO:0000305}.
Disease Associations Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649]: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269PubMed:19200523, ECO:0000269PubMed:23798057}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in trachea, lungs, and testes. Very strong expression is detected in nasal brushings. {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
GO:0003674 molecular_function
Biological Process
GO:0003341 cilium movement
GO:0035082 axoneme assembly
Cellular Component
GO:0001534 radial spoke
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005856 cytoskeleton
GO:0005930 axoneme
GO:0031514 motile cilium
Protein Structure and Domains
PDB ID
InterPro IPR006802 Radial spokehead-like protein
PFAM PF04712
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q5TD94
PhosphoSite PhosphoSite-Q5TD94
TrEMBL
UniProt Splice Variant
Entrez Gene 345895
UniGene Hs.625134
RefSeq
HUGO HGNC:21558
OMIM 612647
CCDS
HPRD 18005
IMGT
EMBL AK299754 AL132795 BC106949
GenPept AAI06950 BAG61643 CAI20496 CAI20497

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