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    KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 [ Homo sapiens (human) ]

    Gene ID: 11015, updated on 8-Jul-2021

    Summary

    Official Symbol
    KDELR3provided by HGNC
    Official Full Name
    KDEL endoplasmic reticulum protein retention receptor 3provided by HGNC
    Primary source
    HGNC:HGNC:6306
    See related
    Ensembl:ENSG00000100196
    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
    ERD2L3
    Summary
    This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in stomach (RPKM 15.1), gall bladder (RPKM 11.6) and 23 other tissues See more
    Orthologs
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    Genomic context

    See KDELR3 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (38468096..38483447)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38864101..38879452)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927183 Neighboring gene uncharacterized LOC105373029 Neighboring gene potassium inwardly rectifying channel subfamily J member 4 Neighboring gene DEAD-box helicase 17 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1887 Neighboring gene DNA meiotic recombinase 1 Neighboring gene uncharacterized LOC105373031

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ER retention sequence binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables KDEL sequence binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein retention in ER lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with COPI-coated vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in cis-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in transport vesicle TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ER lumen protein-retaining receptor 3
    Names
    KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3
    KDEL receptor 3

    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_006855.4NP_006846.1  ER lumen protein-retaining receptor 3 isoform a

      See identical proteins and their annotated locations for NP_006846.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AI753246, AL035081, Z97056
      Consensus CDS
      CCDS13972.1
      UniProtKB/Swiss-Prot
      O43731
      UniProtKB/TrEMBL
      A0A024R1R0
      Related
      ENSP00000216014.4, ENST00000216014.9
      Conserved Domains (1) summary
      pfam00810
      Location:29169
      ER_lumen_recept; ER lumen protein retaining receptor
    2. NM_016657.3NP_057839.1  ER lumen protein-retaining receptor 3 isoform b

      See identical proteins and their annotated locations for NP_057839.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' terminal exon, compared to variant 1. It encodes isoform b which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BC098131, BU621350, Z97056
      Consensus CDS
      CCDS46705.1
      UniProtKB/Swiss-Prot
      O43731
      Related
      ENSP00000386918.3, ENST00000409006.3
      Conserved Domains (1) summary
      pfam00810
      Location:29169
      ER_lumen_recept; ER lumen protein retaining receptor

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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
      38468096..38483447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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