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

Gene ID: 171395, updated on 21-May-2024

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; heart development; and left/right pattern formation. 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, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See Pkd1l1 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36772 Neighboring gene general transcription factor II A, 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_28549 Neighboring gene predicted gene, 40815 Neighboring gene predicted gene, 40814 Neighboring gene STARR-seq mESC enhancer starr_28552 Neighboring gene predicted gene, 57803 Neighboring gene HUS1 checkpoint clamp component Neighboring gene Sad1 and UNC84 domain containing 3 Neighboring gene predicted gene 11992

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

General gene information

Markers

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 ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of calcium channel complex ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
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 plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    8782025..8924365 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A0A0MQK4
    Related
    ENSMUSP00000120803.3, ENSMUST00000154153.9
    Conserved Domains (5) summary
    TIGR00864
    Location:167622
    PCC; polycystin cation channel protein
    pfam02010
    Location:835976
    REJ; REJ domain
    pfam08016
    Location:20232331
    PKD_channel; Polycystin cation channel
    cl00011
    Location:14931611
    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:13871425
    GPS; GPCR proteolysis site, GPS, motif