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Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.[provided by RefSeq, May 2020]
CALR (Calreticulin) is a Protein Coding gene. Diseases associated with CALR include Myelofibrosis and Thrombocythemia 1. Among its related pathways are Androgen receptor signaling pathway and Binding and Uptake of Ligands by Scavenger Receptors. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding. An important paralog of this gene is CALR3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001849 | complement component C1q binding | TAS | 15474971 |
GO:0003677 | DNA binding | NAS | 11149926 |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0003729 | mRNA binding | IDA | 14726956 |
GO:0005178 | integrin binding | IPI | 1911778 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001669 | acrosomal vesicle | IEA | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IMP | 22377355 |
GO:0005634 | nucleus | IEA,IDA | 8107809 |
GO:0005635 | nuclear envelope | IDA | 21590275 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Antigen processing-Cross presentation |
Immune response Antigen presentation by MHC class I
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|
2 | Unfolded Protein Response (UPR) | ||
3 | Binding and Uptake of Ligands by Scavenger Receptors | ||
4 | Human cytomegalovirus infection | ||
5 | Class I MHC mediated antigen processing and presentation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 8107809 |
GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I | TAS | -- |
GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | TAS | -- |
GO:0002502 | peptide antigen assembly with MHC class I protein complex | ISS | 11825569 |
GO:0006355 | regulation of transcription, DNA-templated | TAS | 8107808 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Melatonin | Approved, Vet_approved | Nutra | Target | Melatonin receptors MT inhibitor, Endogenous hormone; agonist at MT1 and MT2 | 426 | |
Antihemophilic factor, human recombinant | Approved, Investigational | Pharma | Target, chaperone | 0 | ||
Calcium citrate | Approved, Investigational | Pharma | Target, ligand | 0 | ||
Calcium Phosphate | Approved | Pharma | Target, ligand | 0 | ||
Calcium phosphate dihydrate | Approved | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CALR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CALR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CALR 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Calr 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Calr 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CALR 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CALR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CALR 31 |
|
OneToOne | |
CALR3 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | CALR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | calr 30 |
|
||
Str.538 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | calr-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | calrl2 30 31 |
|
OneToOne | |
calr 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9141 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Crc 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004212 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | crt-1 30 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CNE1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CRT1b 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.1564 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0246200 30 |
|
||
Os.7158 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.1770 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.1288 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10660 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3623 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs138503495 | Benign: not provided | 12,939,212(+) |
A/G NM_004343.4(CALR):c.170A>G (p.Tyr57Cys) |
MISSENSE | |
rs140610430 | Benign: not provided | 12,943,587(+) |
A/G NM_004343.4(CALR):c.1011A>G (p.Ala337=) |
SYNONYMOUS | |
rs143880510 | Benign: not provided | 12,943,801(+) |
A/C NM_004343.4(CALR):c.1142A>C (p.Glu381Ala) |
MISSENSE | |
rs144562269 | Likely Benign: not provided | 12,940,588(+) |
C/G NM_004343.4(CALR):c.750C>G (p.Pro250=) |
SYNONYMOUS | |
rs1555760738 | Pathogenic: Myelofibrosis; Thrombocythemia 1 | 12,943,750(+) |
AGCAGAGGCTTAAGGA
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) |
FRAMESHIFT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myelofibrosis |
|
|
thrombocythemia 1 |
|
|
essential thrombocythemia |
|
|
rubella |
|
|
heart block, congenital |
|
|