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    Pkd1 polycystin 1, transient receptor potential channel interacting [ Rattus norvegicus (Norway rat) ]

    Gene ID: 24650, updated on 9-Dec-2024

    Summary

    Official Symbol
    Pkd1provided by RGD
    Official Full Name
    polycystin 1, transient receptor potential channel interactingprovided by RGD
    Primary source
    RGD:3333
    See related
    EnsemblRapid:ENSRNOG00000010771 AllianceGenome:RGD:3333
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable several functions, including Wnt receptor activity; transcription regulator inhibitor activity; and transmembrane transporter binding activity. Predicted to contribute to calcium channel activity. Involved in positive regulation of cytosolic calcium ion concentration. Located in lateral plasma membrane. Used to study polycystic kidney disease. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1. Orthologous to human PKD1 (polycystin 1, transient receptor potential channel interacting). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Lung (RPKM 191.2), Heart (RPKM 147.1) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Pkd1 in Genome Data Viewer
    Location:
    10q12
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (14077733..14125682)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (13573779..13621138)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (13914057..13962008)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene RAB26, member RAS oncogene family Neighboring gene transfer RNA serine (anticodon AGA) 42 Neighboring gene TSC complex subunit 2 Neighboring gene nth-like DNA glycosylase 1 Neighboring gene NHERF family PDZ scaffold protein 2

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables Wnt receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to monoatomic cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables monoatomic cation channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription regulator inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within blood vessel development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in branching morphogenesis of an epithelial tube ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cartilage condensation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cartilage development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell surface receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cell surface receptor signaling pathway via JAK-STAT ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell surface receptor signaling pathway via JAK-STAT ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within detection of mechanical stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in digestive tract development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in embryonic placenta development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within establishment of cell polarity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in genitalia development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within heart development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within in utero embryonic development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within kidney development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in kidney development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within liver development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lung epithelium development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within lymph vessel morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mesonephric duct development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mesonephric tubule development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in metanephric ascending thin limb development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in metanephric collecting duct development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in metanephric distal tubule morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in metanephric proximal tubule development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neural tube development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nitrogen cycle metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within nitrogen cycle metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peptidyl-serine phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in placenta blood vessel development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein export from nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein heterotetramerization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of regulation of G1/S transition of mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of mitotic spindle organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of proteasomal protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to fluid shear stress ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in skin development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in spinal cord development ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of calcium channel complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of cation channel complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in migrasome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in motile cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of polycystin complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    polycystin-1
    Names
    polycystic kidney disease 1 homolog

    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_001414013.1NP_001400942.1  polycystin-1 precursor

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000010
      UniProtKB/TrEMBL
      F1MAD3, Q9ERV0
      Related
      ENSRNOP00000015092.7, ENSRNOT00000015092.9

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086028.1 Reference GRCr8

      Range
      14077733..14125682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063268414.1XP_063124484.1  polycystin-1 isoform X1

      UniProtKB/TrEMBL
      F1MAD3, Q9ERV0
    2. XM_008767541.4XP_008765763.1  polycystin-1 isoform X6

      UniProtKB/TrEMBL
      A6HCU0
      Conserved Domains (12) summary
      TIGR00864
      Location:972722
      PCC; polycystin cation channel protein
      smart00303
      Location:30023051
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00013
      Location:3271
      LRRNT; Leucine rich repeat N-terminal domain
      smart00034
      Location:406530
      CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
      smart00082
      Location:125177
      LRRCT; Leucine rich repeat C-terminal domain
      smart00089
      Location:14711538
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      smart00321
      Location:177271
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd01752
      Location:31093228
      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 ...
      sd00031
      Location:7092
      LRR_1; leucine-rich repeat [structural motif]
      pfam00801
      Location:13781449
      PKD; PKD domain
      pfam12799
      Location:72108
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:61127
      LRR_8; Leucine rich repeat
    3. XM_008767539.4XP_008765761.1  polycystin-1 isoform X2

      UniProtKB/TrEMBL
      Q9ERV0
      Conserved Domains (13) summary
      TIGR00864
      Location:972722
      PCC; polycystin cation channel protein
      smart00303
      Location:30023051
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00013
      Location:3271
      LRRNT; Leucine rich repeat N-terminal domain
      smart00034
      Location:406530
      CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
      smart00082
      Location:125177
      LRRCT; Leucine rich repeat C-terminal domain
      smart00089
      Location:14711538
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      smart00321
      Location:177271
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd01752
      Location:31093228
      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 ...
      sd00031
      Location:7092
      LRR_1; leucine-rich repeat [structural motif]
      pfam00801
      Location:13781449
      PKD; PKD domain
      pfam08016
      Location:37004088
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:72108
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:61127
      LRR_8; Leucine rich repeat
    4. XM_008767540.4XP_008765762.1  polycystin-1 isoform X3

      UniProtKB/TrEMBL
      A0A8I6AC84, Q9ERV0
      Related
      ENSRNOP00000089569.1, ENSRNOT00000116450.2
      Conserved Domains (13) summary
      TIGR00864
      Location:972722
      PCC; polycystin cation channel protein
      smart00303
      Location:30023051
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00013
      Location:3271
      LRRNT; Leucine rich repeat N-terminal domain
      smart00034
      Location:406530
      CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
      smart00082
      Location:125177
      LRRCT; Leucine rich repeat C-terminal domain
      smart00089
      Location:14711538
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      smart00321
      Location:177271
      WSC; present in yeast cell wall integrity and stress response component proteins
      cd01752
      Location:31093228
      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 ...
      sd00031
      Location:7092
      LRR_1; leucine-rich repeat [structural motif]
      pfam00801
      Location:13781449
      PKD; PKD domain
      pfam08016
      Location:36624064
      PKD_channel; Polycystin cation channel
      pfam12799
      Location:72108
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:61127
      LRR_8; Leucine rich repeat
    5. XM_063268415.1XP_063124485.1  polycystin-1 isoform X4

      UniProtKB/TrEMBL
      Q9ERV0
    6. XM_063268416.1XP_063124486.1  polycystin-1 isoform X5

      UniProtKB/TrEMBL
      Q9ERV0
    7. XM_039085207.2XP_038941135.1  polycystin-1 isoform X7

      Conserved Domains (4) summary
      TIGR00864
      Location:11714
      PCC; polycystin cation channel protein
      cd01752
      Location:21012220
      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 ...
      pfam08016
      Location:26943094
      PKD_channel; Polycystin cation channel
      cl02559
      Location:19942043
      GPS; GPCR proteolysis site, GPS, motif