KDELR1
ER lumen protein-retaining receptor 1
Also known as: ERD2, ERD2.1, ERD21_HUMAN, HDEL
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P24390
- Gene
- KDELR1
- Ensembl
- ENSG00000105438
- Chromosome
- 19
- Canonical length
- 212 aa
- Protein class
- Predicted membrane proteins, Transporters
- Subcellular location
- Golgi apparatus,Vesicles,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
212 residues, UniProt reviewed canonical sequence.
>P24390|KDELR1
1 MNLFRFLGDL SHLLAIILLL LKIWKSRSCA GISGKSQVLF AVVFTARYLD LFTNYISLYN
61 TCMKVVYIAC SFTTVWLIYS KFKATYDGNH DTFRVEFLVV PTAILAFLVN HDFTPLEILW
121 TFSIYLESVA ILPQLFMVSK TGEAETITSH YLFALGVYRT LYLFNWIWRY HFEGFFDLIA
181 IVAGLVQTVL YCDFFYLYIT KVLKGKKLSL PALocalizationUniProt · AlphaFold · HPA
Whether an antibody against KDELR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 180 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 180 nTPM
- ovary: 162 nTPM
- choroid plexus: 138 nTPM
- pancreas: 133 nTPM
- salivary gland: 132 nTPM
- cervix: 125 nTPM
Single-cell type
- extravillous trophoblasts: 816 nCPM
- syncytiotrophoblasts: 438 nCPM
- esophageal apical cells: 427 nCPM
- migrating cytotrophoblasts: 377 nCPM
- plasma cells: 340 nCPM
- goblet cells: 303 nCPM
Immune cell
- plasmacytoid DC: 46 nTPM
- classical monocyte: 41 nTPM
- intermediate monocyte: 35 nTPM
- myeloid DC: 31 nTPM
- non-classical monocyte: 30 nTPM
- MAIT T-cell: 21 nTPM
Brain region
- choroid plexus: 115 nTPM
- thalamus: 86 nTPM
- hypothalamus: 82 nTPM
- medulla oblongata: 80 nTPM
- midbrain: 76 nTPM
- white matter: 73 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KDELR1.
Disease | ImmuneIEDB
Conditions an epitope on KDELR1 was assayed in.
- colonic benign neoplasm T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.42
- gnomAD pLI
- 0.88
- gnomAD missense Z
- 2.32
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- protein retention in ER lumen
- protein transport
- retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
- T cell apoptotic process
- T cell differentiation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KDELR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KDELR1 as an antibody target. Whether an autoantibody or antibody against KDELR1 could matter depends on whether native KDELR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KDELR1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KDELR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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