Gene Gene information from NCBI Gene database.
Entrez ID 10945
Gene name KDEL endoplasmic reticulum protein retention receptor 1
Gene symbol KDELR1
Synonyms (NCBI Gene)
ERD2ERD2.1HDELPM23
Chromosome 19
Chromosome location 19q13.33
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-ter
miRNA miRNA information provided by mirtarbase database.
579
miRTarBase ID miRNA Experiments Reference
MIRT023631 hsa-miR-1-3p Proteomics 18668040
MIRT027910 hsa-miR-96-5p Sequencing 20371350
MIRT052299 hsa-let-7b-5p CLASH 23622248
MIRT049826 hsa-miR-92a-3p CLASH 23622248
MIRT044760 hsa-miR-320a CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 8392934, 18086916
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005046 Function KDEL sequence binding IDA 8392934, 18086916
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131235 6304 ENSG00000105438
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P24390
Protein name ER lumen protein-retaining receptor 1 (KDEL endoplasmic reticulum protein retention receptor 1) (KDEL receptor 1) (Putative MAPK-activating protein PM23)
Protein function Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. {ECO:0000269|PubMed:11703931, ECO:0000269|PubMed:14
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00810 ER_lumen_recept 28 169 ER lumen protein retaining receptor Family
Sequence
Sequence length 212
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Vibrio cholerae infection   COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PROSTATIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult type dermatomyositis Dermatomyositis BEFREE 21125283
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19457610 Associate
★☆☆☆☆
Found in Text Mining only
Complete hydatidiform mole Complete Hydatidiform Mole BEFREE 7628848
★☆☆☆☆
Found in Text Mining only
Dermatomyositis Dermatomyositis BEFREE 21125283
★☆☆☆☆
Found in Text Mining only
Inclusion Body Myositis (disorder) Inclusion Body Myositis BEFREE 21125283
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 25841765
★☆☆☆☆
Found in Text Mining only
Liver neoplasms Liver neoplasms BEFREE 25841765
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 39875049 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer CTD_human_DG 17013881
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic Neoplasms CTD_human_DG 17013881
★★☆☆☆
Found in Text Mining + Unknown/Other Associations