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KDELR1 Gene

protein-coding   GIFtS: 62
GCID: GC19M048885

KDEL (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention...

  See KDELR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
KDEL (Lys-Asp-Glu-Leu) Endoplasmic Reticulum Protein Retention Receptor
11 2
     ERD22
Putative MAPK-Activating Protein PM232 3     HDEL2
ERD2.12 3     PM232
KDEL Endoplasmic Reticulum Protein Retention Receptor 12 3     ER Lumen Protein Retaining Receptor 12
KDEL Receptor 12 3     

External Ids:    HGNC: 63041   Entrez Gene: 109452   Ensembl: ENSG000001054387   OMIM: 1312355   UniProtKB: P243903   

Export aliases for KDELR1 gene to outside databases

Previous GC identifers: GC19M049530 GC19M049253 GC19M053561 GC19M053577 GC19M045266


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include KDEL sequence binding. An important paralog of this gene is KDELR3.

UniProtKB/Swiss-Prot: ERD21_HUMAN, P24390
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 Wiki entry for KDELR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the KDELR1 gene promoter:
         p53   GATA-1   C/EBPalpha   PPAR-gamma1   SEF-1 (1)   FOXO1a   STAT3   PPAR-gamma2   NF-kappaB1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKDELR1 promoter sequence
   Search Chromatin IP Primers for KDELR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KDELR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

KDELR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KDELR1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M048885:  view genomic region     (about GC identifiers)

Start:
48,885,827 bp from pter      End:
48,894,810 bp from pter
Size:
8,984 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ERD21_HUMAN, P24390 (See protein sequence)
Recommended Name: ER lumen protein retaining receptor 1  
Size: 212 amino acids; 24542 Da
Subunit: Upon ligand binding the receptor oligomerizes and interacts with components of the transport machinery
such as ARFGAP1 and ARF1
Secondary accessions: B2R6N4 Q54A39

Explore the universe of human proteins at neXtProt for KDELR1: NX_P24390

Explore proteomics data for KDELR1 at MOPED

Post-translational modifications: 

  • Phosphorylation by PKA at Ser-209 is required for endoplasmic reticulum retention function1
  • Ubiquitination2 at Lys83
  • Modification sites at PhosphoSitePlus

  • See KDELR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006792.1  
    ENSEMBL proteins: 
     ENSP00000329471   ENSP00000470841   ENSP00000472182  

    KDELR1 Human Recombinant Protein Products:

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    antibodies-online proteins for KDELR1 (2 products) 

     
    antibodies-online peptides for KDELR1

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    antibodies-online kits for KDELR1 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000133 ER_ret_rcpt

    Graphical View of Domain Structure for InterPro Entry P24390

    ProtoNet protein and cluster: P24390

    1 Blocks protein domain: IPB000133 ER lumen protein retaining receptor

    UniProtKB/Swiss-Prot: ERD21_HUMAN, P24390
    Similarity: Belongs to the ERD2 family


    Find genes that share domains with KDELR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERD21_HUMAN, P24390
    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 entry for KDELR1:
    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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005046KDEL sequence binding TAS2172835
    GO:0046923ER retention sequence binding ----
         
    Find genes that share ontologies with KDELR1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KDELR1

    miRNA
    Products:
        
    miRTarBase miRNAs that target KDELR1:
    hsa-mir-96-5p (MIRT027910), hsa-mir-769-3p (MIRT039070), hsa-mir-423-3p (MIRT042609), hsa-mir-1 (MIRT023631), hsa-mir-320a (MIRT044760), hsa-mir-877-3p (MIRT037161), hsa-mir-615-3p (MIRT040446), hsa-mir-92a-3p (MIRT049826), hsa-let-7b-5p (MIRT052299)

    Block miRNA regulation of human, mouse, rat KDELR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KDELR1 (see all 18):
    hsa-miR-498 hsa-miR-185* hsa-miR-1271 hsa-miR-331-3p hsa-miR-340 hsa-miR-548x hsa-miR-3613-3p hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidKDELR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KDELR1
    Predesigned siRNA for gene silencing in human, mouse, rat KDELR1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: KDELR1 (NM_006801)
    Sino Biological Human cDNA Clone for KDELR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KDELR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KDELR1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDELR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERD21_HUMAN, P24390: 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: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus2
    plasma membrane2
    vacuole2
    chloroplast1
    cytosol1
    extracellular1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA15308636
    GO:0005794Golgi apparatus ----
    GO:0005801cis-Golgi network IEA--

    Find genes that share ontologies with KDELR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KDELR1 About    
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2G Protein Signaling Pathways
    Signal transduction cAMP signaling0.44
    3Insulin receptor recycling
    Vibrio cholerae infection0.40
    4Signal transduction PKA signaling
    Signal transduction PKA signaling


    Find genes that share SuperPaths with KDELR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KDELR1
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    2 GeneGo (Thomson Reuters) Pathways for KDELR1
        Signal transduction cAMP signaling
    Signal transduction PKA signaling



    1 Kegg Pathway  (Kegg details for KDELR1):
        Vibrio cholerae infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KDELR1
    Interactions:

        GeneGlobe Interaction Network for KDELR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KDELR1 (P243901, 3 ENSP000003294714) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEK6Q9HC981, 3, ENSP000003627024EBI-1043076,EBI-740364 I2D: score=2 STRING: ENSP00000362702
    SERINC3Q135301, 3, ENSP000002551754EBI-1043076,EBI-1045571 I2D: score=2 STRING: ENSP00000255175
    WBP5Q9UHQ71, 3, ENSP000003617404EBI-1043076,EBI-1051372 I2D: score=2 STRING: ENSP00000361740
    BZW1Q7L1Q61, 3, ENSP000003943164EBI-1043076,EBI-1046727 I2D: score=2 STRING: ENSP00000394316
    ARF1P840773, ENSP000002721024I2D: score=2 STRING: ENSP00000272102
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006621protein retention in ER lumen IEA--
    GO:0006886intracellular protein transport TAS2172835
    GO:0015031protein transport ----
    GO:0016192vesicle-mediated transport IEA--

    Find genes that share ontologies with KDELR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KDELR1 (ERD21)

    1 Novoseek inferred chemical compound relationship for KDELR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tetrapeptide 82.3 1 1483466 (1)



    Find genes that share compounds with KDELR1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KDELR1 gene: 
    NM_006801.2  

    Unigene Cluster for KDELR1:

    KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
    Hs.515515  [show with all ESTs]
    Unigene Representative Sequence: BG116085
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330720(uc002pja.1 uc002pjb.1) ENST00000597017 ENST00000600980
    ENST00000599084 ENST00000594643
    miRNA
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    Block miRNA regulation of human, mouse, rat KDELR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KDELR1 (see all 18):
    hsa-miR-498 hsa-miR-185* hsa-miR-1271 hsa-miR-331-3p hsa-miR-340 hsa-miR-548x hsa-miR-3613-3p hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidKDELR1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat KDELR1
      QuantiFast Probe-based Assays in human, mouse, rat KDELR1

    Additional mRNA sequence: 

    AB097047.1 AK075185.1 AK312647.1 BC008958.2 BC018778.1 X55885.1 

    23 DOTS entries:

    DT.95190939  DT.120020  DT.91876640  DT.95097063  DT.100031182  DT.121444837  DT.100881478  DT.95190931 
    DT.100881472  DT.91831933  DT.40116587  DT.91777917  DT.91777914  DT.100669532  DT.100682793  DT.100696680 
    DT.100881494  DT.121444798  DT.121444819  DT.121444830  DT.95190862  DT.95190932  DT.121444797 

    Selected AceView cDNA sequences (see all 819):

    CR623592 BP338697 BU943970 BM837670 BM981841 AA513410 BU542650 H26447 
    BE551419 BE858300 CR600499 BU855762 AI565310 BE781673 BP353262 BM803199 
    BI259914 CF265162 BF725074 CR601161 CR598646 BG764086 W02886 CR599929 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KDELR1    About this scheme

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


    ECgene alternative splicing isoforms for KDELR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KDELR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTGTACA
    KDELR1 Expression
    About this image


    KDELR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    KDELR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KDELR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515515
        Custom PCR Arrays for KDELR1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDELR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KDELR1 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kdelr11 , 5 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein more1, 5 91.19(n)1
    99.53(a)1
      7 (29.57 cM)5
    681371  NM_133950.21  NP_598711.11 
     458727725 
    lizard
    (Anolis carolinensis)
    Reptilia KDELR16
    KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum prote...
    82(a)
    1 ↔ 1
    GL343329.1(130748-142136)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060380.12   -- 77.86(n)    BC060380.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta KdelR1 , 3 retrograde (Golgi to ER) transport KDEL
    receptor3
    KDEL receptor1
    75(a)3
    70.13(n)1
    75(a)1
      31E13
    344271  NM_164928.31  NP_723587.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C28H8.43 ER lumen protein retaining receptor 66(a)   III(5978584-5980088)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERD2(YBL040C)4
    ERD21
    HDEL receptor, an integral membrane protein that binds more4
    ERD21
    52.29(n)1
    52.13(a)1
      2(142868-142112)4
    8522401, 4  NP_009513.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ERD21 ERD2 55.66(n)
    51.42(a)
      839807  NM_102673.5  NP_564326.1 
    rice
    (Oryza sativa)
    Liliopsida Os.183262 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.35(n)    AK102648.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KDELR1 gene
    KDELR32  KDELR22  
    2 SIMAP similar genes for KDELR1 using alignment to 3 protein entries:     ERD21_HUMAN (see all proteins):
    KDELR2    KDELR3

    Find genes that share paralogs with KDELR1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KDELR1 (see all 267)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1498954501,2
    C--48885329(+) CGCCTC/TCTGGG 1 -- ds50010--------
    rs1138806981,2
    C--48885404(+) AGCTA-/T/TT  
            
    ATTTT
    1 -- ds50011CSA 2
    rs1475843881,2
    --48885418(+) TTGTAG/TTTTTA 1 -- ds50010--------
    rs1879686871,2
    --48885485(+) TGATCC/TGCCCG 1 -- ds50010--------
    rs2758451,2
    C,F,O,A,H--48885607(-) TTACCC/TTGGCA 1 -- ds500130Minor allele frequency- N:0.00EA NS NA WA CSA 4439
    rs37457231,2
    C,F,H--48885656(+) CAGCAC/TGGCGA 1 -- ds50015Minor allele frequency- T:0.01EA NS 1898
    rs104211611,2
    C,F,A--48885718(+) CCTCCT/CAGGCC 1 -- ds50011Minor allele frequency- C:0.41WA 118
    rs1151716971,2
    C,F--48885728(+) CTCGTC/TGCCTA 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs104194461,2
    C,F,A--48885733(+) CGCCTA/GCAGAT 1 -- ds50011Minor allele frequency- G:0.41WA 118
    rs1997120881,2
    --48885743(+) TAGTC-/AATAAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KDELR1 (48885827 - 48894810 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KDELR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718677CNV Deletion23290073
    esv2718676CNV Deletion23290073
    nsv912219CNV Loss21882294
    nsv833854CNV Loss17160897
    esv34181CNV Loss18971310
    nsv9739CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KDELR1
    DNA2.0 Custom Variant and Variant Library Synthesis for KDELR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 131235    OMIM disorders: --

    2 diseases for KDELR1:    
    About MalaCards
    actinobacillosis    hydranencephaly

    2 diseases from the University of Copenhagen DISEASES database for KDELR1:
    Actinobacillosis     Hydranencephaly

    Find genes that share disorders with KDELR1           About GenesLikeMe


    Export disorders for KDELR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KDELR1 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with KDELR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homologue of the yeast HDEL receptor. (PubMed id 2172835)1, 2, 3, 9 Lewis M.J. and Pelham H.R.B. (Nature 1990)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PubMed id 12761501)1, 2 Matsuda A....Sugano S. (Oncogene 2003)
    4. KDEL-cargo regulates interactions between proteins involved in COPI vesicle traffic: measurements in living cells using FRET. (PubMed id 11703931)1, 2 Majoul I....SAPling H.D. (Dev. Cell 2001)
    5. Mutational analysis of the human KDEL receptor: distinct structural requirements for Golgi retention, ligand binding and retrograde transport. (PubMed id 8392934)1, 2 Townsley F.M.... Pelham H.R.B. (EMBO J. 1993)
    6. The KDEL receptor, ERD2, regulates intracellular traffic by recruiting a GTPase-activating protein for ARF1. (PubMed id 9405360)1, 9 Aoe T....Hsu V.W. (EMBO J. 1997)
    7. Ligand-induced redistribution of a human KDEL receptor from the Golgi complex to the endoplasmic reticulum. (PubMed id 1310258)1, 9 Lewis M.J. and Pelham H.R. (Cell 1992)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    9. The KDEL receptor couples to GI+q/11 to activate Src kinases and regulate transport through the Golgi. (PubMed id 22580821)1 Giannotta M....Sallese M. (EMBO J. 2012)
    10. Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking. (PubMed id 22363504)1 Saudek V. (PLoS ONE 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10945 HGNC: 6304 AceView: KDELR1 Ensembl:ENSG00000105438 euGenes: HUgn10945
    ECgene: KDELR1 Kegg: 10945 H-InvDB: KDELR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KDELR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KDELR1 gene:
    Search GeneIP for patents involving KDELR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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