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Aliases for KDELR1 Gene

Aliases for KDELR1 Gene

  • KDEL (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention Receptor 1 2 3
  • KDEL Endoplasmic Reticulum Protein Retention Receptor 1 3 4
  • Putative MAPK-Activating Protein PM23 3 4
  • KDEL Receptor 1 3 4
  • ERD2.1 3 4
  • ER Lumen Protein Retaining Receptor 1 3
  • ER Lumen Protein-Retaining Receptor 1 3
  • ERD2 3
  • HDEL 3
  • PM23 3

External Ids for KDELR1 Gene

Summaries for KDELR1 Gene

Entrez Gene Summary for KDELR1 Gene

  • 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]

GeneCards Summary for KDELR1 Gene

KDELR1 (KDEL (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention Receptor 1) is a Protein Coding gene. Diseases associated with KDELR1 include actinobacillosis and hydranencephaly. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include KDEL sequence binding. An important paralog of this gene is KDELR2.

UniProtKB/Swiss-Prot for KDELR1 Gene

  • Required for the retention of luminal endoplasmic reticulum resident proteins via vesicular recycling. This receptor recognizes the C-terminal K-D-E-L motif. COPI-coated transport intermediates, either in the form of round vesicles or as tubular processes, mediate retrograde traffic of the KDEL receptor-ligand complexes. Also required for normal vesicular traffic through the Golgi.

Gene Wiki entry for KDELR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KDELR1 Gene

Genomics for KDELR1 Gene

Genomic Location for KDELR1 Gene

Start:
48,382,570 bp from pter
End:
48,391,553 bp from pter
Size:
8,984 bases
Orientation:
Minus strand

Genomic View for KDELR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KDELR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KDELR1 Gene

Regulatory Elements for KDELR1 Gene

Proteins for KDELR1 Gene

  • Protein details for KDELR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24390-ERD21_HUMAN
    Recommended name:
    ER lumen protein-retaining receptor 1
    Protein Accession:
    P24390
    Secondary Accessions:
    • B2R6N4
    • Q54A39
    • Q8NBW7

    Protein attributes for KDELR1 Gene

    Size:
    212 amino acids
    Molecular mass:
    24542 Da
    Quaternary structure:
    • Upon ligand binding the receptor oligomerizes and interacts with components of the transport machinery such as ARFGAP1 and ARF1.

    Alternative splice isoforms for KDELR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KDELR1 Gene

Proteomics data for KDELR1 Gene at MOPED

Post-translational modifications for KDELR1 Gene

  • Phosphorylation by PKA at Ser-209 is required for endoplasmic reticulum retention function.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys83

Other Protein References for KDELR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KDELR1 Gene

Domains for KDELR1 Gene

Protein Domains for KDELR1 Gene

UniProtKB/Swiss-Prot:

ERD21_HUMAN
Family:
  • Belongs to the ERD2 family.:
    • P24390
genes like me logo Genes that share domains with KDELR1: view

No data available for Gene Families for KDELR1 Gene

Function for KDELR1 Gene

Molecular function for KDELR1 Gene

GENATLAS Biochemistry: endoplasmic reticulum protein retention receptor 1 (Lys-Asp-Glu-Leu),S cerevisiae ERD2 ortholog,allowing the retrieval of proteins from Golgi complex to ER,mimicking the brefeldin A (BFA)-like phenotype,when overexpressed
UniProtKB/Swiss-Prot Function: Required for the retention of luminal endoplasmic reticulum resident proteins via vesicular recycling. This receptor recognizes the C-terminal K-D-E-L motif. COPI-coated transport intermediates, either in the form of round vesicles or as tubular processes, mediate retrograde traffic of the KDEL receptor-ligand complexes. Also required for normal vesicular traffic through the Golgi.

Gene Ontology (GO) - Molecular Function for KDELR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005046 KDEL sequence binding TAS 2172835
GO:0046923 ER retention sequence binding --
genes like me logo Genes that share ontologies with KDELR1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for KDELR1 Gene

Localization for KDELR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KDELR1 Gene

Cytoplasmic vesicle, COPI-coated vesicle membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KDELR1 Gene COMPARTMENTS Subcellular localization image for KDELR1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
plasma membrane 2
vacuole 2
chloroplast 1
cytosol 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for KDELR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
GO:0005794 Golgi apparatus --
GO:0005801 cis-Golgi network IEA --
genes like me logo Genes that share ontologies with KDELR1: view

Pathways for KDELR1 Gene

genes like me logo Genes that share pathways with KDELR1: view

Pathways by source for KDELR1 Gene

2 GeneGo (Thomson Reuters Life Sciences Research) pathways for KDELR1 Gene
1 KEGG pathway for KDELR1 Gene

Gene Ontology (GO) - Biological Process for KDELR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006621 protein retention in ER lumen IEA --
GO:0006886 intracellular protein transport TAS 2172835
GO:0015031 protein transport --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with KDELR1: view

Compounds for KDELR1 Gene

(1) Novoseek inferred chemical compound relationships for KDELR1 Gene

Compound -log(P) Hits PubMed IDs
tetrapeptide 82.3 1
genes like me logo Genes that share compounds with KDELR1: view

Transcripts for KDELR1 Gene

Unigene Clusters for KDELR1 Gene

KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KDELR1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1: - - -
SP2: - - - -
SP3: -
SP4:
SP5:

Relevant External Links for KDELR1 Gene

GeneLoc Exon Structure for
KDELR1
ECgene alternative splicing isoforms for
KDELR1

Expression for KDELR1 Gene

mRNA expression in normal human tissues for KDELR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KDELR1 Gene

SOURCE GeneReport for Unigene cluster for KDELR1 Gene Hs.515515

genes like me logo Genes that share expressions with KDELR1: view

Orthologs for KDELR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KDELR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KDELR1 36
  • 100 (n)
  • 100 (a)
KDELR1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KDELR1 36
  • 93.4 (n)
  • 99.06 (a)
KDELR1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KDELR1 36
  • 92.77 (n)
  • 99.53 (a)
mouse
(Mus musculus)
Mammalia Kdelr1 36
  • 91.19 (n)
  • 99.53 (a)
Kdelr1 16
Kdelr1 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KDELR1 37
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 71 (a)
OneToMany
-- 37
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Kdelr1 36
  • 90.88 (n)
  • 99.06 (a)
lizard
(Anolis carolinensis)
Reptilia KDELR1 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kdelr2 36
  • 78.3 (n)
  • 90.09 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012756 36
  • 68.24 (n)
  • 75.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta KdelR 36
  • 70.13 (n)
  • 75 (a)
KdelR 37
  • 74 (a)
OneToMany
KdelR 38
  • 75 (a)
worm
(Caenorhabditis elegans)
Secernentea C28H8.4 37
  • 66 (a)
ManyToMany
erd-2 37
  • 65 (a)
ManyToMany
C28H8.4 38
  • 66 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL323C 36
  • 57.03 (n)
  • 51.18 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERD2 36
  • 52.29 (n)
  • 52.13 (a)
ERD2 37
  • 49 (a)
OneToMany
ERD2 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05611g 36
  • 52.67 (n)
  • 50.94 (a)
soybean
(Glycine max)
eudicotyledons Gma.7842 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ERD2 36
  • 55.66 (n)
  • 51.42 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1313 36
corn
(Zea mays)
Liliopsida Zm.2753 36
rice
(Oryza sativa)
Liliopsida Os.18326 36
Os05g0529300 36
  • 58.96 (n)
  • 51.89 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.3598 36
bread mold
(Neurospora crassa)
Ascomycetes NCU06771 36
  • 60 (n)
  • 53.33 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erd2 36
  • 50.47 (n)
  • 48.58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 82 (a)
ManyToMany
-- 37
  • 82 (a)
ManyToMany
-- 37
  • 41 (a)
ManyToMany
Species with no ortholog for KDELR1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • zebrafish (Danio rerio)

Evolution for KDELR1 Gene

ENSEMBL:
Gene Tree for KDELR1 (if available)
TreeFam:
Gene Tree for KDELR1 (if available)

Paralogs for KDELR1 Gene

Paralogs for KDELR1 Gene

Selected SIMAP similar genes for KDELR1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KDELR1: view

Variants for KDELR1 Gene

Sequence variations from dbSNP and Humsavar for KDELR1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs4782 -- 48,384,411(-) AAGAC(A/C)GGCGA synonymous-codon, reference
rs13572 -- 48,382,867(-) CCCAT(C/T)TGCCC utr-variant-3-prime
rs275845 -- 48,382,350(-) TTACC(C/T)TGGCA downstream-variant-500B
rs275846 -- 48,383,586(-) CTGCA(C/T)GGAGC intron-variant
rs275847 -- 48,383,987(-) AGGGC(A/G)GGGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KDELR1 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
esv34181 CNV Loss 18971310
nsv833854 CNV Loss 17160897
nsv912219 CNV Loss 21882294
esv2718676 CNV Deletion 23290073
esv2718677 CNV Deletion 23290073

Relevant External Links for KDELR1 Gene

HapMap Linkage Disequilibrium report
KDELR1

Disorders for KDELR1 Gene

(2) University of Copenhagen DISEASES for KDELR1 Gene

genes like me logo Genes that share disorders with KDELR1: view

No data available for UniProtKB/Swiss-Prot for KDELR1 Gene

Publications for KDELR1 Gene

  1. A human homologue of the yeast HDEL receptor. (PMID: 2172835) Lewis M.J. … Pelham H.R.B. (Nature 1990) 2 3 4 23
  2. Ligand-induced redistribution of a human KDEL receptor from the Golgi complex to the endoplasmic reticulum. (PMID: 1310258) Lewis M.J. … Pelham H.R. (Cell 1992) 3 23
  3. Mutational analysis of the human KDEL receptor: distinct structural requirements for Golgi retention, ligand binding and retrograde transport. (PMID: 8392934) Townsley F.M. … Pelham H.R.B. (EMBO J. 1993) 3 4
  4. The KDEL receptor, ERD2, regulates intracellular traffic by recruiting a GTPase-activating protein for ARF1. (PMID: 9405360) Aoe T. … Hsu V.W. (EMBO J. 1997) 3 23
  5. KDEL-cargo regulates interactions between proteins involved in COPI vesicle traffic: measurements in living cells using FRET. (PMID: 11703931) Majoul I. … SAPling H.D. (Dev. Cell 2001) 3 4

Products for KDELR1 Gene

Sources for KDELR1 Gene

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