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  2. KDELR3 - KDEL endoplasmic reticulum protein retention receptor 3 Gene

KDELR3 - KDEL endoplasmic reticulum protein retention receptor 3 Gene

Homo sapiens

Also known as ERD23; ERD2L3

Gene ID: 11015 | Gene type: protein coding

About KDELR3

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:38,468,096-38,483,447 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues and 2 paralogues. Ubiquitous expression in stomach (RPKM 15.1), gall bladder (RPKM 11.6) and 23 other tissues.

Summary

This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. 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, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

KDELR3 Products(2)

mRNA Protein Name
NM_006855.4 NP_006846.1 ER lumen protein-retaining receptor 3 isoform a
NM_016657.3 NP_057839.1 ER lumen protein-retaining receptor 3 isoform b

KDELR3 Protein Structure

ER_lumen_recept

ER_lumen_recept: ER lumen protein retaining receptor (29 - 170)

  • 0
  • 100
  • 200
  • 214 a.a.
Protein Preferred Names Protein Names

ER lumen protein-retaining receptor 3

KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22

Mental Retardation, Autosomal Dominant 22

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Distal Monosomy 1q

Autosomal Dominant Intellectual Developmental Disorder 22

Autosomal Dominant Mental Retardation 22

Distal Deletion 1q

Monosomy 1qter

Telomeric Deletion 1q

Mental Retardation, Autosomal Dominant, Type 22

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

Orthologs Information

Species Symbol Source ID
Bos taurus KDELR3 VGNC VGNC:30520
Rattus norvegicus KDELR3 RGD RGD:1311536
Felis catus KDELR3 VGNC VGNC:67935
Mus musculus KDELR3 MGD MGI:2145953
Canis familiaris KDELR3 VGNC VGNC:42316
Macaca mulatta KDELR3 VGNC VGNC:74012