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KDELR1 KDEL endoplasmic reticulum protein retention receptor 1 [ Homo sapiens (human) ]

Gene ID: 10945, updated on 23-Nov-2023

Summary

Official Symbol
KDELR1provided by HGNC
Official Full Name
KDEL endoplasmic reticulum protein retention receptor 1provided by HGNC
Primary source
HGNC:HGNC:6304
See related
Ensembl:ENSG00000105438 MIM:131235; AllianceGenome:HGNC:6304
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
ERD2; HDEL; PM23; ERD2.1
Summary
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, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 78.6), thyroid (RPKM 73.5) and 25 other tissues See more
Orthologs
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Genomic context

See KDELR1 in Genome Data Viewer
Location:
19q13.33
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48382575..48397412, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51376721..51392513, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48885832..48894808, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48836515-48837250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48842328-48843265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845414-48845914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845915-48846415 Neighboring gene transmembrane protein 143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876382-48876882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876883-48877383 Neighboring gene synaptogyrin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10878 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48899313-48899496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10880 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48903941-48904482 Neighboring gene Sharpr-MPRA regulatory region 12315 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48917645-48918366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48921924-48922690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14894 Neighboring gene Sharpr-MPRA regulatory region 8588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48947127-48947818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14896 Neighboring gene glutamate rich WD repeat containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48964846-48965804 Neighboring gene uncharacterized LOC105372430 Neighboring gene potassium inwardly rectifying channel subfamily J member 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48971727-48972227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48972285-48973278 Neighboring gene cytohesin 2

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 ER retention sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables KDEL sequence binding 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 T cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein retention in ER lumen IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
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 endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
 
located_in transport vesicle TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ER lumen protein-retaining receptor 1
Names
KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
KDEL receptor 1
putative MAPK-activating protein PM23

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_006801.3NP_006792.1  ER lumen protein-retaining receptor 1

    See identical proteins and their annotated locations for NP_006792.1

    Status: REVIEWED

    Source sequence(s)
    BC018778
    Consensus CDS
    CCDS12718.1
    UniProtKB/Swiss-Prot
    B2R6N4, P24390, Q54A39, Q8NBW7
    Related
    ENSP00000329471.2, ENST00000330720.7
    Conserved Domains (1) summary
    pfam00810
    Location:28169
    ER_lumen_recept; ER lumen protein retaining receptor

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    48382575..48397412 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438095.1XP_047294051.1  ER lumen protein-retaining receptor 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    51376721..51392513 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319623.1XP_054175598.1  ER lumen protein-retaining receptor 1 isoform X1