Entity Details

Primary name DRC1
Entity type gene
Source Source Link

Details

PrimaryID92749
RefseqGeneNG_042824
SymbolDRC1
Namedynein regulatory complex subunit 1
Chromosome2
Location2p23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-07-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDRC1_HUMAN

GO terms

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GOName
GO:0003352 regulation of cilium movement
GO:0005829 cytosol
GO:0005858 axonemal dynein complex
GO:0005930 axoneme
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0031514 motile cilium
GO:0060285 cilium-dependent cell motility
GO:0070286 axonemal dynein complex assembly

Diseases

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Disease IDSourceNameDescription
615294 OMIMCiliary dyskinesia, primary, 21 (CILD21)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
DRC1GSK3ABioGRID, UniProt30824926 details
DRC1ALDOABioGRID, IntAct26496610 details
DRC1MRE11BioGRID26344197 details
DRC1ZNFX1BioGRID26496610 details