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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 (KDEL Endoplasmic Reticulum Protein Retention Receptor 1) is a Protein Coding gene. Diseases associated with KDELR1 include Actinobacillosis and Mental Retardation, X-Linked, Syndromic, Wu Type. Among its related pathways are Signal transduction_PKA signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ER retention sequence binding and KDEL sequence binding. An important paralog of this gene is KDELR2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005046 | KDEL sequence binding | IDA | 8392934 |
GO:0046923 | ER retention sequence binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005783 | endoplasmic reticulum | IEA,IBA | 21873635 |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment | IDA | 15308636 |
GO:0005794 | Golgi apparatus | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
2 | Transport to the Golgi and subsequent modification | ||
3 | Golgi-to-ER retrograde transport | ||
4 | Vesicle-mediated transport | ||
5 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002369 | T cell cytokine production | IEA | -- |
GO:0006621 | protein retention in ER lumen | IEA,IBA | 21873635 |
GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
GO:0006890 | retrograde vesicle-mediated transport, Golgi to ER | TAS | -- |
GO:0015031 | protein transport | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KDELR1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KDELR1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KDELR1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | KDELR1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kdelr1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kdelr1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | KDELR1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kdelr2 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | KdelR 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012756 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | C28H8.4 31 32 |
|
ManyToMany | |
erd-2 31 |
|
ManyToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL323C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E05611g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ERD2 30 31 33 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ERD2 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.7842 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0529300 30 |
|
||
Os.18326 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.1313 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.3598 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.2753 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06771 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | erd2 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2718676 | CNV | deletion | 23290073 |
esv2718677 | CNV | deletion | 23290073 |
esv34181 | CNV | loss | 18971310 |
nsv833854 | CNV | loss | 17160897 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
actinobacillosis |
|
|
mental retardation, x-linked, syndromic, wu type |
|
|
nemaline myopathy 1 |
|
|
polycystic liver disease |
|
|
short-rib thoracic dysplasia 1 with or without polydactyly |
|
|