Entity Details

Primary name RSPH1
Entity type gene
Source Source Link

Details

PrimaryID89765
RefseqGeneNG_034257
SymbolRSPH1
Nameradial spoke head component 1
Chromosome21
Location21q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-06-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRSPH1_HUMAN

GO terms

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GOName
GO:0000794 condensed nuclear chromosome
GO:0001520 outer dense fiber
GO:0005634 nucleus
GO:0005829 cytosol
GO:0007286 spermatid development
GO:0031514 motile cilium
GO:0035082 axoneme assembly
GO:0051321 meiotic cell cycle
GO:0072687 meiotic spindle

Diseases

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Disease IDSourceNameDescription
615481 OMIMCiliary dyskinesia, primary, 24 (CILD24)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. The disease is caused by variants 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).

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
RSPH1MORN3BioGRID, IntAct25416956 31515488 32296183 details