Entity Details

Primary name PKD1L1
Entity type gene
Source Source Link

Details

PrimaryID168507
RefseqGeneNG_052801
SymbolPKD1L1
Namepolycystin 1 like 1, transient receptor potential channel interacting
Chromosome7
Location7p12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-26
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPK1L1_HUMAN

GO terms

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GOName
GO:0003127 detection of nodal flow
GO:0005262 calcium channel activity
GO:0005929 cilium
GO:0016020 membrane
GO:0034704 calcium channel complex
GO:0050982 detection of mechanical stimulus
GO:0060170 ciliary membrane
GO:0070986 left/right axis specification
GO:0097730 non-motile cilium
GO:0098609 cell-cell adhesion

Diseases

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Disease IDSourceNameDescription
617205 OMIMHeterotaxy, visceral, 8, autosomal (HTX8)A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
PKD1L1CLK1BioGRID26167880 details
PKD1L1TEX101BioGRID, UniProt30097533 details
PKD1L1DYNC1LI1BioGRID28718761 details
PKD1L1BICD2BioGRID28718761 details