Entity Details

Primary name PK1L1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TDX9
EntryNamePK1L1_HUMAN
FullNamePolycystic kidney disease protein 1-like 1
TaxID9606
Evidenceevidence at protein level
Length2849
SequenceStatuscomplete
DateCreated2002-10-10
DateModified2021-06-02

Ontological Relatives

GenesPKD1L1

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

Subcellular Location

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Subcellular Location
Cell projection

Domains

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DomainNameCategoryType
IPR000601 PKD domainDomainDomain
IPR001024 PLAT/LH2 domainDomainDomain
IPR002859 PKD/REJ-like domainDomainDomain
IPR013122 Polycystin cation channel, PKD1/PKD2DomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR014010 REJ domainDomainDomain
IPR022409 PKD/Chitinase domainDomainDomain
IPR035986 PKD domain superfamilyFamilyHomologous superfamily
IPR036392 PLAT/LH2 domain superfamilyFamilyHomologous superfamily
IPR042060 Polycystin-1 like, PLAT/LH2 domainDomainDomain

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

1 interaction

InteractorPartnerSourcesPublicationsLink
PK1L1_HUMANCLK1_HUMANBioGRID26167880 details