Pkd1l1 polycystic kidney disease 1 like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pkd1l1provided by MGI
Official Full Name: polycystic kidney disease 1 like 1provided by MGI
Primary source: MGI:MGI:2156538
See related: Ensembl:ENSMUSG00000046634 AllianceGenome:MGI:2156538
Gene type: protein coding
RefSeq status: MODEL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable calcium channel activity. Involved in detection of nodal flow and left/right axis specification. Acts upstream of or within determination of left/right symmetry and heart development. Located in cilium. Is expressed in cochlea; node; and notochord. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 11 A1; 11 5.57 cM

Exon count:: 51

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (8782025..8924365, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (8825696..8974709, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pkd1l1-deficiency drives biliary atresia through ciliary dysfunction in biliary epithelial cells.
Title: Pkd1l1-deficiency drives biliary atresia through ciliary dysfunction in biliary epithelial cells.
PKD1L1 Is Involved in Congenital Chylothorax.
Title: PKD1L1 Is Involved in Congenital Chylothorax.
Liver-restricted deletion of the biliary atresia candidate gene Pkd1l1 causes bile duct dysmorphogenesis and ciliopathy.
Title: Liver-restricted deletion of the biliary atresia candidate gene Pkd1l1 causes bile duct dysmorphogenesis and ciliopathy.
This paper demonstrates that PKD1L1 can mediate the sensation of fluid flow to elicit Ca2+ signals and implicates a Polycystin domain of PKD1L1 in the response to flow and left-right patterning.
Title: Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination.
Pkd1l1 is the elusive Pkd2 binding partner required for Left-Right patterning.
Title: Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2.
situs inversus in Pkd1l1-/- knockout mice
Title: Situs inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- mice.
Situs inversus and increased embryonic lethality is observed in Pkd1l1-/- mice
Title: Situs inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2) 1 citation
Targeted (1) 1 citation

General gene information

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Markers

Pkd1l1 (e-PCR), detects polymorphism
- UniSTS:531219

14.MMHAP24FLE2.seq (e-PCR)
- UniSTS:123202

BE119538 (e-PCR)
- UniSTS:249214

D11Mit226 (e-PCR), detects polymorphism
- UniSTS:126428

NoName (e-PCR)
- UniSTS:236519

Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in detection of mechanical stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of nodal flow	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in left/right axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within left/right pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of calcium channel complex	ISO Inferred from Sequence Orthology more info
part_of calcium channel complex	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in non-motile cilium	ISO Inferred from Sequence Orthology more info
located_in non-motile cilium	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: polycystin-1-like protein 1

Names: PC1-like 1 protein; polycystic kidney disease protein 1-like 1; polycystin-1L1; protein rikishi

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

8782025..8924365 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157131.1 → XP_036013024.1 polycystin-1-like protein 1

UniProtKB/Swiss-Prot

F6VYK1, J3QMZ2, Q8R526

Related

ENSMUSP00000120803.3, ENSMUST00000154153.9

Conserved Domains (5) summary

TIGR00864
Location:167 → 622

PCC; polycystin cation channel protein

pfam02010
Location:835 → 976

REJ; REJ domain

pfam08016
Location:2023 → 2331

PKD_channel; Polycystin cation channel

cl00011
Location:1493 → 1611

PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

cl02559
Location:1387 → 1425

GPS; GPCR proteolysis site, GPS, motif