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KDELR1 - KDEL endoplasmic reticulum protein retention receptor 1 Gene

Also Known as ERD2; HDEL; PM23; ERD2.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10945

About KDELR1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,382,575-48,397,412 (from NCBI)

This gene has 5 transcripts (splice variants), 119 orthologues and 2 paralogues. Ubiquitous expression in ovary (RPKM 78.6), thyroid (RPKM 73.5) and 25 other tissues.

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-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]

KDELR1 Products (1)

mRNA	Protein	Name
NM_006801.3	NP_006792.1	ER lumen protein-retaining receptor 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables KDEL sequence binding	IDA IDA: Inferred from direct assay	8392934	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IDA IDA: Inferred from direct assay	8392934	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with COPI-coated vesicle membrane	IDA IDA: Inferred from direct assay	18086916	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	8392934	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	8392934	GOA
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: Inferred from direct assay	15308636	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KDELR1 Protein Structure

ER_lumen_recept

0
100
200
212 a.a.

Protein Preferred Names	Protein Names
ER lumen protein-retaining receptor 1	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1

KDELR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KDELR1	P24390	KRT34	Homo sapiens	O76011	Y2H Array	32296183
Intra	KDELR1	P24390	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
Intra	KDELR1	P24390	DLG2	Homo sapiens	Q15700	Validated Y2H	32296183
Intra	KDELR1	P24390	DLG2	Homo sapiens	Q15700	Y2H Array	32296183
Intra	KDELR1	P24390	DLG2	Homo sapiens	Q15700	Y2H Prey Pooling	32296183
Intra	KDELR1	P24390	DLG3	Homo sapiens	Q92796	Validated Y2H	32296183
Intra	KDELR1	P24390	DLG3	Homo sapiens	Q92796	Y2H Array	32296183
Intra	KDELR1	P24390	DLG3	Homo sapiens	Q92796	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Syndromic X-Linked Intellectual Disability 94	Mrx94 Mrxs29 Syndromic X-Linked Intellectual Disability Due To Gria3 Anomalies Syndromic X-Linked Mental Retardation 29 Syndromic X-Linked Mental Retardation Wu Type
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P2674	KDEL		/	Unkown
HY-RS07201	KDELR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KDELR1	VGNC	VGNC:107108
Felis catus	KDELR1	VGNC	VGNC:107059
Mus musculus	KDELR1	MGD	MGI:1915387
Bos taurus	KDELR1	VGNC	VGNC:52202
Rattus norvegicus	KDELR1	RGD	RGD:1306764
Others	KDELR1	NCBI