Version 5.4
Homo sapiens Gene: RSPH4A
Summary
InnateDB Gene IDBG-95705.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RSPH4A
Gene Name radial spoke head 4 homolog A (Chlamydomonas)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000111834
Encoded Proteins
IDBP-95707
radial spoke head 4 homolog A (Chlamydomonas)
IDBP-95709
radial spoke head 4 homolog A (Chlamydomonas)
IDBP-95711
radial spoke head 4 homolog A (Chlamydomonas)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:116616479-116632985
Strand Forward strand
Band q22.1
Transcripts
ENST00000229554 ENSP00000229554
ENST00000368581 ENSP00000357570
ENST00000368580 ENSP00000357569
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000039552
View Gene Order
ENSBTAG00000011890
Not yet available
Cross-References
SwissProt Q5TD94
TrEMBL
UniProt Splice Variant
Entrez Gene 345895
UniGene Hs.160380 Hs.625134
RefSeq NM_001010892 NM_001161664
HUGO HGNC:21558
OMIM 612647
CCDS CCDS34521 CCDS55051
HPRD
IMGT
EMBL AK299754 AL132795 BC106949
GenPept AAI06950 BAG61643 CAI20496 CAI20497
RNA Seq Atlas 345895

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