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    PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting [ Homo sapiens (human) ]

    Gene ID: 168507, updated on 3-Apr-2024

    Summary

    Official Symbol
    PKD1L1provided by HGNC
    Official Full Name
    polycystin 1 like 1, transient receptor potential channel interactingprovided by HGNC
    Primary source
    HGNC:HGNC:18053
    See related
    Ensembl:ENSG00000158683 MIM:609721; AllianceGenome:HGNC:18053
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HTX8; PRO19563
    Summary
    This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    7p12.3
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (47774614..47960906, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (47937113..48116591, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (47814212..47988063, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:47699457-47699997 Neighboring gene long intergenic non-protein coding RNA 2902 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:47711792-47712670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:47719702-47720215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47721760-47722273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:47749727-47750441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25981 Neighboring gene Sharpr-MPRA regulatory region 2260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:47763585-47764516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47778987-47779641 Neighboring gene Sharpr-MPRA regulatory region 6862 Neighboring gene long intergenic non-protein coding RNA 525 Neighboring gene Sharpr-MPRA regulatory region 14324 Neighboring gene PKD1L1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47928290-47928890 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:47936298-47936819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47936820-47937340 Neighboring gene NANOG hESC enhancer GRCh37_chr7:47954627-47955128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25983 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:47980802-47982001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25984 Neighboring gene Sharpr-MPRA regulatory region 5513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25985 Neighboring gene uncharacterized LOC105375270 Neighboring gene HUS1 checkpoint clamp component Neighboring gene Sad1 and UNC84 domain containing 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Phenotypes

    Associated conditions

    Description Tests
    Heterotaxy, visceral, 8, autosomal
    MedGen: C4310668 OMIM: 617205 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.
    EBI GWAS Catalog
    Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in detection of mechanical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in detection of nodal flow ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in left/right axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in non-motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    polycystin-1-like protein 1
    Names
    PC1-like 1 protein
    polycystic kidney disease 1 like 1
    polycystic kidney disease protein 1-like 1
    polycystin-1L1

    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.

    Genomic

    1. NG_052801.1 RefSeqGene

      Range
      15157..189009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_138295.5NP_612152.1  polycystin-1-like protein 1

      See identical proteins and their annotated locations for NP_612152.1

      Status: REVIEWED

      Source sequence(s)
      AB061683, AC019066, AI860869, CT004668
      Consensus CDS
      CCDS34633.1
      UniProtKB/Swiss-Prot
      Q6UWK1, Q8TDX9
      UniProtKB/TrEMBL
      A0A8I5KWV8
      Related
      ENSP00000289672.2, ENST00000289672.7
      Conserved Domains (3) summary
      cd01752
      Location:17961914
      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 ...
      pfam00801
      Location:597663
      PKD; PKD domain
      pfam08016
      Location:23362656
      PKD_channel; Polycystin cation channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      47774614..47960906 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011798.3XP_016867287.1  polycystin-1-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KWV8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      47937113..48116591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357386.1XP_054213361.1  polycystin-1-like protein 1 isoform X1