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Aliases for KDELR1 Gene

Aliases for KDELR1 Gene

  • KDEL Endoplasmic Reticulum Protein Retention Receptor 1 2 3 4 5
  • KDEL (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention Receptor 1 2 3
  • Putative MAPK-Activating Protein PM23 3 4
  • KDEL Receptor 1 3 4
  • ERD2.1 3 4
  • ER Lumen Protein-Retaining Receptor 1 3
  • ERD2 3
  • HDEL 3
  • PM23 3

External Ids for KDELR1 Gene

Previous GeneCards Identifiers for KDELR1 Gene

  • GC19M049530
  • GC19M049253
  • GC19M053561
  • GC19M053577
  • GC19M048885
  • GC19M045266

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 Endoplasmic Reticulum Protein Retention Receptor 1) is a Protein Coding gene. Diseases associated with KDELR1 include Actinobacillosis. Among its related pathways are ADP signalling through P2Y purinoceptor 12 and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include ER retention sequence binding and 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

Additional gene information for KDELR1 Gene

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

Genomics for KDELR1 Gene

GeneHancer (GH) Regulatory Elements for KDELR1 Gene

Promoters and enhancers for KDELR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J048389 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.4 +6.9 6885 2.8 HDGF SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 KDELR1 GRWD1 NOP53-AS1 SNRNP70 BICRA CYTH2 CCDC114 LOC101928295 GRIN2D SYNGR4
GH19J048395 Enhancer 1.5 FANTOM5 Ensembl ENCODE 673 -1.0 -1030 6.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A YBX1 ZNF2 POLR2B ZNF766 KDELR1 NOP53-AS1 GRWD1 BICRA ENSG00000269321 NOP53 CYTH2 SNORD23 BSPH1 LOC105372430
GH19J048958 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 43.5 -566.3 -566340 10.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 FTL ENSG00000267898 GC19P048966 GC19P048967 NUP62 PTOV1-AS2 IRF3 SNORD35A SNORD35B PRR12
GH19J048871 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 40.5 -478.3 -478326 8.8 FEZF1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MEF2D SSRP1 GC19M048876 PPP1R15A PRR12 SNRNP70 IRF3 GRWD1 SNORD35A PTOV1-AS2 SNORD35B PIH1D1
GH19J048253 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 40.1 +140.2 140237 7.1 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 MEF2D CARD8-AS1 CARD8 BICRA KDELR1 GRWD1 SNRNP70 NOP53-AS1 NOP53 RPL18 SNORD23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KDELR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KDELR1 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • FOXO1a
  • FOXO1
  • C/EBPalpha
  • STAT3
  • NF-kappaB1
  • p53
  • GATA-1
  • SEF-1 (1)

Genomic Locations for KDELR1 Gene

Genomic Locations for KDELR1 Gene
chr19:48,382,570-48,397,689
(GRCh38/hg38)
Size:
15,120 bases
Orientation:
Minus strand
chr19:48,885,827-48,894,810
(GRCh37/hg19)
Size:
8,984 bases
Orientation:
Minus strand

Genomic View for KDELR1 Gene

Genes around KDELR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KDELR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KDELR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for KDELR1 Gene

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

Other Protein References for KDELR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KDELR1 Gene

Domains & Families for KDELR1 Gene

Gene Families for KDELR1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for KDELR1 Gene

Suggested Antigen Peptide Sequences for KDELR1 Gene

Graphical View of Domain Structure for InterPro Entry

P24390

UniProtKB/Swiss-Prot:

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

Function for KDELR1 Gene

Molecular function for KDELR1 Gene

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.
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

Phenotypes From GWAS Catalog for KDELR1 Gene

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 IEA --
genes like me logo Genes that share ontologies with KDELR1: view
genes like me logo Genes that share phenotypes with KDELR1: view

Animal Model Products

miRNA for KDELR1 Gene

miRTarBase miRNAs that target KDELR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KDELR1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 2
extracellular 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KDELR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with KDELR1: view

Pathways & Interactions for KDELR1 Gene

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

SIGNOR curated interactions for KDELR1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KDELR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002369 T cell cytokine production IEA --
GO:0006621 protein retention in ER lumen IEA --
GO:0006886 intracellular protein transport TAS 2172835
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
genes like me logo Genes that share ontologies with KDELR1: view

Drugs & Compounds for KDELR1 Gene

(1) Additional Compounds for KDELR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KDELR1: view

Transcripts for KDELR1 Gene

mRNA/cDNA for KDELR1 Gene

Unigene Clusters for KDELR1 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for KDELR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KDELR1 Gene

This gene is overexpressed in Nasal epithelium (32.7) and Fetal gut (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KDELR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of KDELR1 Gene:

KDELR1

SOURCE GeneReport for Unigene cluster for KDELR1 Gene:

Hs.515515

Evidence on tissue expression from TISSUES for KDELR1 Gene

  • Lung(4.7)
  • Skin(4.6)
  • Nervous system(4.2)
  • Intestine(3.1)
  • Eye(2.9)
  • Kidney(2.8)
  • Liver(2.3)
  • Stomach(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with KDELR1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KDELR1 Gene

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 34 33
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KDELR1 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KDELR1 34 33
  • 93.4 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
dog
(Canis familiaris)
Mammalia KDELR1 33
  • 92.77 (n)
mouse
(Mus musculus)
Mammalia Kdelr1 16 34 33
  • 91.19 (n)
rat
(Rattus norvegicus)
Mammalia Kdelr1 33
  • 90.88 (n)
lizard
(Anolis carolinensis)
Reptilia KDELR1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kdelr2 33
  • 78.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta KdelR 34 35 33
  • 70.13 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010224 33
  • 68.24 (n)
worm
(Caenorhabditis elegans)
Secernentea C28H8.4 34 35
  • 66 (a)
ManyToMany
erd-2 34
  • 65 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL323C 33
  • 57.03 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05611g 33
  • 52.67 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERD2 36 34 33
  • 52.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ERD2 33
  • 55.66 (n)
soybean
(Glycine max)
eudicotyledons Gma.7842 33
rice
(Oryza sativa)
Liliopsida Os05g0529300 33
  • 58.96 (n)
Os.18326 33
barley
(Hordeum vulgare)
Liliopsida Hv.1313 33
wheat
(Triticum aestivum)
Liliopsida Ta.3598 33
corn
(Zea mays)
Liliopsida Zm.2753 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 82 (a)
ManyToMany
-- 34
  • 82 (a)
ManyToMany
-- 34
  • 41 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06771 33
  • 60 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erd2 33
  • 50.47 (n)
Species where no ortholog for KDELR1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KDELR1: view image

Paralogs for KDELR1 Gene

Paralogs for KDELR1 Gene

(2) SIMAP similar genes for KDELR1 Gene using alignment to 3 proteins:

  • ERD21_HUMAN
  • M0R1Y2_HUMAN
  • Q8NBW7_HUMAN
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 Variation AA Info Type
rs1000125913 -- 48,392,020(-) G/A upstream_transcript_variant
rs1000409250 -- 48,392,748(-) C/A/G/T upstream_transcript_variant
rs1000743486 -- 48,390,748(-) A/C intron_variant
rs1000817332 -- 48,386,117(-) T/C intron_variant
rs1001122510 -- 48,383,445(-) T/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv2718676 CNV deletion 23290073
esv2718677 CNV deletion 23290073
esv34181 CNV loss 18971310
nsv833854 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for KDELR1 Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KDELR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KDELR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KDELR1 Gene

Disorders for KDELR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KDELR1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
actinobacillosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KDELR1

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

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

Publications for KDELR1 Gene

  1. A human homologue of the yeast HDEL receptor. (PMID: 2172835) Lewis MJ … Pelham HR (Nature 1990) 2 3 4 22 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The retrieval function of the KDEL receptor requires PKA phosphorylation of its C-terminus. (PMID: 14517323) Cabrera M … Velasco A (Molecular biology of the cell 2003) 3 4 58
  4. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PMID: 12761501) Matsuda A … Sugano S (Oncogene 2003) 3 4 58
  5. KDEL-cargo regulates interactions between proteins involved in COPI vesicle traffic: measurements in living cells using FRET. (PMID: 11703931) Majoul I … Söling HD (Developmental cell 2001) 3 4 58

Products for KDELR1 Gene

Sources for KDELR1 Gene