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

Gene ID: 10343, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (46255663..46263343, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (46740363..46748043, complement)
105.20220307 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 (11) 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)

Genotypes

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
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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