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

Gene ID: 10343, updated on 13-Mar-2020

Summary

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
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

Genomic context

See PKDREJ in Genome Data Viewer
Location:
22q13.31
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (46255663..46263343, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46651560..46659277, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373074 Neighboring gene peroxisome proliferator activated receptor alpha Neighboring gene cysteine rich DPF motif domain containing 1 Neighboring gene tetratricopeptide repeat domain 38 Neighboring gene GTSE1 divergent transcript Neighboring gene G2 and S-phase expressed 1

Genomic regions, transcripts, and products

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acrosome reaction TAS
Traceable Author Statement
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
detection of mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_006071.2NP_006062.1  polycystic kidney disease and receptor for egg jelly-related protein 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
    Q9NTG1
    Related
    ENSP00000253255.5, ENST00000253255.7
    Conserved Domains (4) summary
    cd01752
    Location:12311346
    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:243711
    REJ; REJ domain
    pfam08016
    Location:17482178
    PKD_channel; Polycystin cation channel
    cl02559
    Location:11001166
    GPS; GPCR proteolysis site, GPS, motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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