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    Pkd1l3 polycystic kidney disease 1 like 3 [ Mus musculus (house mouse) ]

    Gene ID: 244646, updated on 9-Dec-2024

    Summary

    Official Symbol
    Pkd1l3provided by MGI
    Official Full Name
    polycystic kidney disease 1 like 3provided by MGI
    Primary source
    MGI:MGI:2664670
    See related
    Ensembl:ENSMUSG00000048827 AllianceGenome:MGI:2664670
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Enables transmembrane transporter binding activity. Contributes to monoatomic cation channel activity and sour taste receptor activity. Involved in cellular response to acidic pH; detection of chemical stimulus involved in sensory perception of sour taste; and monoatomic cation transport. Part of cation channel complex and receptor complex. Colocalizes with cell surface. Is expressed in circumvallate papillae; cochlea; foliate papillae; and testis. Orthologous to human PKD1L3 (polycystin 1 like 3, transient receptor potential channel interacting). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 11.3), lung adult (RPKM 2.7) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Pkd1l3 in Genome Data Viewer
    Location:
    8 D3; 8 57.14 cM
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (110340828..110399305)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (109614190..109672673)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39247 Neighboring gene dihydroorotate dehydrogenase Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:112132543-112132726 Neighboring gene increased sodium tolerance 1 homolog (yeast) Neighboring gene STARR-positive B cell enhancer ABC_E3805 Neighboring gene zinc finger protein 821 Neighboring gene predicted gene, 53453 Neighboring gene ataxin 1-like

    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)
    • Endonuclease-mediated (3) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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 ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium-activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to monoatomic cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to monoatomic cation transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pH-gated monoatomic ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pH-gated monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to sour taste receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables sour taste receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of cation channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    polycystin-1-like protein 3
    Names
    PC1-like 3 protein
    polycystic kidney disease protein 1-like 3
    polycystin-1L3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001039700.3NP_001034789.2  polycystin-1-like protein 3 isoform a

      See identical proteins and their annotated locations for NP_001034789.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest variant and encodes the longest isoform (a).
      Source sequence(s)
      AC125162
      Consensus CDS
      CCDS40472.1
      UniProtKB/Swiss-Prot
      E9QPA5, Q2EG93, Q2EG94, Q2EG95, Q2EG96, Q2EG97, Q2EG98, Q2EG99, Q7TN87
      Related
      ENSMUSP00000104865.2, ENSMUST00000109242.8
      Conserved Domains (7) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11301248
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam01825
      Location:10201058
      GPS; GPCR proteolysis site, GPS, motif
      pfam03546
      Location:208666
      Treacle; Treacher Collins syndrome protein Treacle
      pfam08016
      Location:17082118
      PKD_channel; Polycystin cation channel
      pfam15229
      Location:345499
      POM121; POM121 family
      pfam15265
      Location:413611
      FAM196; FAM196 family
    2. NM_001286454.2NP_001273383.1  polycystin-1-like protein 3 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.
      Source sequence(s)
      AC125162
      Consensus CDS
      CCDS85608.1
      UniProtKB/Swiss-Prot
      Q2EG98
      UniProtKB/TrEMBL
      A2A258
      Related
      ENSMUSP00000148592.2, ENSMUST00000212537.2
      Conserved Domains (7) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11201238
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam01825
      Location:10101048
      GPS; GPCR proteolysis site, GPS, motif
      pfam03546
      Location:208666
      Treacle; Treacher Collins syndrome protein Treacle
      pfam08016
      Location:16982108
      PKD_channel; Polycystin cation channel
      pfam15229
      Location:345499
      POM121; POM121 family
      pfam15265
      Location:413611
      FAM196; FAM196 family
    3. NM_181544.3NP_853522.2  polycystin-1-like protein 3 isoform b

      See identical proteins and their annotated locations for NP_853522.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a shorter protein (isoform b) that has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC125162
      Consensus CDS
      CCDS22654.1
      UniProtKB/TrEMBL
      A2A258
      Related
      ENSMUSP00000051512.3, ENSMUST00000057344.3
      Conserved Domains (7) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11201238
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam01825
      Location:10101048
      GPS; GPCR proteolysis site, GPS, motif
      pfam03546
      Location:208666
      Treacle; Treacher Collins syndrome protein Treacle
      pfam08016
      Location:16982108
      PKD_channel; Polycystin cation channel
      pfam15229
      Location:345499
      POM121; POM121 family
      pfam15265
      Location:413611
      FAM196; FAM196 family

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      110340828..110399305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312829.3XP_017168318.1  polycystin-1-like protein 3 isoform X8

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      PHA03307
      Location:147513
      PHA03307; transcriptional regulator ICP4; Provisional
      cd01752
      Location:11301248
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:351729
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10201058
      GPS; GPCR proteolysis site, GPS, motif
      pfam08016
      Location:17082118
      PKD_channel; Polycystin cation channel
    2. XM_036154041.1XP_036009934.1  polycystin-1-like protein 3 isoform X9

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      PHA03307
      Location:147513
      PHA03307; transcriptional regulator ICP4; Provisional
      cd01752
      Location:11511269
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:347705
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10411079
      GPS; GPCR proteolysis site, GPS, motif
      pfam08016
      Location:17291909
      PKD_channel; Polycystin cation channel
    3. XM_017312825.3XP_017168314.1  polycystin-1-like protein 3 isoform X4

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11511269
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10411079
      GPS; GPCR proteolysis site, GPS, motif
      pfam03154
      Location:137472
      Atrophin-1; Atrophin-1 family
      pfam08016
      Location:17282138
      PKD_channel; Polycystin cation channel
    4. XM_017312821.3XP_017168310.1  polycystin-1-like protein 3 isoform X1

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11511269
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10411079
      GPS; GPCR proteolysis site, GPS, motif
      pfam03154
      Location:137472
      Atrophin-1; Atrophin-1 family
      pfam08016
      Location:17292139
      PKD_channel; Polycystin cation channel
    5. XM_017312823.3XP_017168312.1  polycystin-1-like protein 3 isoform X3

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11511269
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10411079
      GPS; GPCR proteolysis site, GPS, motif
      pfam03154
      Location:137472
      Atrophin-1; Atrophin-1 family
      pfam08016
      Location:17282138
      PKD_channel; Polycystin cation channel
    6. XM_017312832.3XP_017168321.1  polycystin-1-like protein 3 isoform X14

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11511269
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10411079
      GPS; GPCR proteolysis site, GPS, motif
      pfam03154
      Location:137472
      Atrophin-1; Atrophin-1 family
      pfam08016
      Location:17282138
      PKD_channel; Polycystin cation channel
    7. XM_017312827.3XP_017168316.1  polycystin-1-like protein 3 isoform X6

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11511269
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10411079
      GPS; GPCR proteolysis site, GPS, motif
      pfam03154
      Location:137472
      Atrophin-1; Atrophin-1 family
      pfam08016
      Location:17292139
      PKD_channel; Polycystin cation channel
    8. XM_017312828.3XP_017168317.1  polycystin-1-like protein 3 isoform X7

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11211239
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10111049
      GPS; GPCR proteolysis site, GPS, motif
      pfam03154
      Location:137472
      Atrophin-1; Atrophin-1 family
      pfam08016
      Location:16992109
      PKD_channel; Polycystin cation channel
    9. XM_017312826.3XP_017168315.1  polycystin-1-like protein 3 isoform X5

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      cd01752
      Location:11311249
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10211059
      GPS; GPCR proteolysis site, GPS, motif
      pfam03154
      Location:137472
      Atrophin-1; Atrophin-1 family
      pfam08016
      Location:17092119
      PKD_channel; Polycystin cation channel
    10. XM_017312822.3XP_017168311.1  polycystin-1-like protein 3 isoform X2

      Conserved Domains (6) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      PHA03307
      Location:147513
      PHA03307; transcriptional regulator ICP4; Provisional
      cd01752
      Location:11501268
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:351662
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10401078
      GPS; GPCR proteolysis site, GPS, motif
      pfam08016
      Location:17282138
      PKD_channel; Polycystin cation channel
    11. XM_011248385.4XP_011246687.1  polycystin-1-like protein 3 isoform X10

      Conserved Domains (5) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      PRK07764
      Location:204410
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd01752
      Location:11511269
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10411079
      GPS; GPCR proteolysis site, GPS, motif
    12. XM_017312831.3XP_017168320.1  polycystin-1-like protein 3 isoform X12

      Conserved Domains (5) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      PRK07764
      Location:204410
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd01752
      Location:11511269
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10411079
      GPS; GPCR proteolysis site, GPS, motif
    13. XM_011248386.4XP_011246688.1  polycystin-1-like protein 3 isoform X11

      Conserved Domains (5) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      PRK07764
      Location:204410
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd01752
      Location:11511269
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10411079
      GPS; GPCR proteolysis site, GPS, motif
    14. XM_006531009.5XP_006531072.1  polycystin-1-like protein 3 isoform X13

      Conserved Domains (5) summary
      cd00037
      Location:37142
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
      PRK07764
      Location:204410
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd01752
      Location:11201238
      PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...
      pfam05109
      Location:325652
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam01825
      Location:10101048
      GPS; GPCR proteolysis site, GPS, motif

    RNA

    1. XR_003947281.2 RNA Sequence