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    PKDREJ polycystin family receptor for egg jelly [ Homo sapiens (human) ]

    Gene ID: 10343, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PKDREJprovided by HGNC
    Official Full Name
    polycystin family receptor for egg jellyprovided by HGNC
    Primary source
    HGNC:HGNC:9015
    See related
    Ensembl:ENSG00000130943 MIM:604670; AllianceGenome:HGNC:9015
    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
    Summary
    This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]
    Orthologs
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    Genomic context

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    See PKDREJ in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (46255663..46263343, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (46740363..46748043, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46651560..46659240, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373074 Neighboring gene peroxisome proliferator activated receptor alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46591783-46592283 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46596710-46597314 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46597315-46597919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46610267-46610768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46645973-46646480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19233 Neighboring gene cysteine rich DPF motif domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13908 Neighboring gene tetratricopeptide repeat domain 38 Neighboring gene GTSE1 divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Evidence of amino acid diversity-enhancing selection within humans and among primates at the candidate sperm-receptor gene PKDREJ. Hamm D, et al. Am J Hum Genet, 2007 Jul. PMID 17564962, Free PMC Article
    2. Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein. Hughes J, et al. Hum Mol Genet, 1999 Mar. PMID 9949214
    3. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Veldhuisen B, et al. Eur J Hum Genet, 1999 Dec. PMID 10602361
    4. Polycystin channels and kidney disease. Stayner C, et al. Trends Pharmacol Sci, 2001 Nov. PMID 11698076
    5. Proteomics strategy to identify substrates of LNX, a PDZ domain-containing E3 ubiquitin ligase. Guo Z, et al. J Proteome Res, 2012 Oct 5. PMID 22889411

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    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
    		  
    Process Evidence Code Pubs
    involved_in acrosome reaction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    Component Evidence Code Pubs
    located_in acrosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    polycystin family receptor for egg jelly
    Names
    PKD and REJ homolog
    polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)
    polycystic kidney disease and receptor for egg jelly-related protein
    polycystin (PKD) family receptor for egg jelly

    NCBI Reference Sequences (RefSeq)

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    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_006071.2 → NP_006062.1  polycystin family receptor for egg jelly precursor

      See identical proteins and their annotated locations for NP_006062.1

      Status: REVIEWED

      Source sequence(s)
      AF116458, Z93024
      Consensus CDS
      CCDS14073.1
      UniProtKB/Swiss-Prot
      B1AJY3, O95850, Q9NTG1
      UniProtKB/TrEMBL
      A6MW40
      Related
      ENSP00000253255.5, ENST00000253255.7
      Conserved Domains (4) summary
      cd01752
      Location:1231 → 1346
      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 ...
      pfam02010
      Location:243 → 711
      REJ; REJ domain
      pfam08016
      Location:1748 → 2178
      PKD_channel; Polycystin cation channel
      cl02559
      Location:1100 → 1166
      GPS; GPCR proteolysis site, GPS, motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      46255663..46263343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      46740363..46748043 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NTG1.2 GenPept UniProtKB/Swiss-Prot:Q9NTG1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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