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KDELR1 (KDEL endoplasmic reticulum protein retention receptor 1)

Identity

Alias_namesKDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
Alias_symbol (synonym)ERD2.1
ERD2
HDEL
Other aliasPM23
HGNC (Hugo) KDELR1
LocusID (NCBI) 10945
Atlas_Id 64833
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 48382570 and ends at 48391553 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GMFG (19q13.2) / KDELR1 (19q13.33)KDELR1 (19q13.33) / AK7 (14q32.2)KDELR1 (19q13.33) / KDELR1 (19q13.33)
KDELR1 (19q13.33) / SLC43A2 (17p13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KDELR1   6304
Cards
Entrez_Gene (NCBI)KDELR1  10945  KDEL endoplasmic reticulum protein retention receptor 1
AliasesERD2; ERD2.1; HDEL; PM23
GeneCards (Weizmann)KDELR1
Ensembl hg19 (Hinxton)ENSG00000105438 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105438 [Gene_View]  chr19:48382570-48391553 [Contig_View]  KDELR1 [Vega]
ICGC DataPortalENSG00000105438
TCGA cBioPortalKDELR1
AceView (NCBI)KDELR1
Genatlas (Paris)KDELR1
WikiGenes10945
SOURCE (Princeton)KDELR1
Genetics Home Reference (NIH)KDELR1
Genomic and cartography
GoldenPath hg38 (UCSC)KDELR1  -     chr19:48382570-48391553 -  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KDELR1  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblKDELR1 - 19q13.33 [CytoView hg19]  KDELR1 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIKDELR1 [Mapview hg19]  KDELR1 [Mapview hg38]
OMIM131235   
Gene and transcription
Genbank (Entrez)AB097047 AK075185 AK312647 BC008958 BC018778
RefSeq transcript (Entrez)NM_006801
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KDELR1
Cluster EST : UnigeneHs.515515 [ NCBI ]
CGAP (NCI)Hs.515515
Alternative Splicing GalleryENSG00000105438
Gene ExpressionKDELR1 [ NCBI-GEO ]   KDELR1 [ EBI - ARRAY_EXPRESS ]   KDELR1 [ SEEK ]   KDELR1 [ MEM ]
Gene Expression Viewer (FireBrowse)KDELR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10945
GTEX Portal (Tissue expression)KDELR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24390   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP24390  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP24390
Splice isoforms : SwissVarP24390
PhosPhoSitePlusP24390
Domaine pattern : Prosite (Expaxy)ER_LUMEN_RECEPTOR_1 (PS00951)    ER_LUMEN_RECEPTOR_2 (PS00952)   
Domains : Interpro (EBI)ER_ret_rcpt   
Domain families : Pfam (Sanger)ER_lumen_recept (PF00810)   
Domain families : Pfam (NCBI)pfam00810   
Conserved Domain (NCBI)KDELR1
DMDM Disease mutations10945
Blocks (Seattle)KDELR1
SuperfamilyP24390
Human Protein AtlasENSG00000105438
Peptide AtlasP24390
HPRD00569
IPIIPI00028116   IPI00074234   IPI00976176   
Protein Interaction databases
DIP (DOE-UCLA)P24390
IntAct (EBI)P24390
FunCoupENSG00000105438
BioGRIDKDELR1
STRING (EMBL)KDELR1
ZODIACKDELR1
Ontologies - Pathways
QuickGOP24390
Ontology : AmiGOGolgi membrane  T cell cytokine production  KDEL sequence binding  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  cis-Golgi network  protein retention in ER lumen  intracellular protein transport  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  membrane  integral component of membrane  transport vesicle  T cell differentiation  COPI-coated vesicle membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  T cell apoptotic process  
Ontology : EGO-EBIGolgi membrane  T cell cytokine production  KDEL sequence binding  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  cis-Golgi network  protein retention in ER lumen  intracellular protein transport  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  membrane  integral component of membrane  transport vesicle  T cell differentiation  COPI-coated vesicle membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  T cell apoptotic process  
Pathways : KEGGVibrio cholerae infection   
NDEx NetworkKDELR1
Atlas of Cancer Signalling NetworkKDELR1
Wikipedia pathwaysKDELR1
Orthology - Evolution
OrthoDB10945
GeneTree (enSembl)ENSG00000105438
Phylogenetic Trees/Animal Genes : TreeFamKDELR1
HOVERGENP24390
HOGENOMP24390
Homologs : HomoloGeneKDELR1
Homology/Alignments : Family Browser (UCSC)KDELR1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKDELR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KDELR1
dbVarKDELR1
ClinVarKDELR1
1000_GenomesKDELR1 
Exome Variant ServerKDELR1
ExAC (Exome Aggregation Consortium)KDELR1 (select the gene name)
Genetic variants : HAPMAP10945
Genomic Variants (DGV)KDELR1 [DGVbeta]
DECIPHERKDELR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKDELR1 
Mutations
ICGC Data PortalKDELR1 
TCGA Data PortalKDELR1 
Broad Tumor PortalKDELR1
OASIS PortalKDELR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKDELR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKDELR1
BioMutasearch KDELR1
DgiDB (Drug Gene Interaction Database)KDELR1
DoCM (Curated mutations)KDELR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KDELR1 (select a term)
intoGenKDELR1
Cancer3DKDELR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM131235   
Orphanet
MedgenKDELR1
Genetic Testing Registry KDELR1
NextProtP24390 [Medical]
TSGene10945
GENETestsKDELR1
Target ValidationKDELR1
Huge Navigator KDELR1 [HugePedia]
snp3D : Map Gene to Disease10945
BioCentury BCIQKDELR1
ClinGenKDELR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10945
Chemical/Pharm GKB GenePA30083
Clinical trialKDELR1
Miscellaneous
canSAR (ICR)KDELR1 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKDELR1
EVEXKDELR1
GoPubMedKDELR1
iHOPKDELR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:18:17 CEST 2017

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