CALR calreticulin [Homo sapiens (human)] - Gene

Summary

Official Symbol: CALRprovided by HGNC
Official Full Name: calreticulinprovided by HGNC
Primary source: HGNC:HGNC:1455
See related: Ensembl:ENSG00000179218 MIM:109091; AllianceGenome:HGNC:1455
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RO; CRT; SSA; CALR1; cC1qR; HEL-S-99n
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 564.2), placenta (RPKM 291.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12938609..12944489)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (13063097..13068974)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (13049423..13055303)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CALR-mutated patients with low allele burden represent a specific subtype of essential thrombocythemia: A study on behalf of FIM and GBMHM.
Title: CALR-mutated patients with low allele burden represent a specific subtype of essential thrombocythemia: A study on behalf of FIM and GBMHM.
Impact of CALR and JAK2V617F Mutations on Clinical Course and Disease Outcomes in Essential Thrombocythemia: A Multicenter Retrospective Study in Turkish Patients.
Title: Impact of CALR and JAK2V617F Mutations on Clinical Course and Disease Outcomes in Essential Thrombocythemia: A Multicenter Retrospective Study in Turkish Patients.
TMCO1 regulates cell proliferation, metastasis and EMT signaling through CALR, promoting ovarian cancer progression and cisplatin resistance.
Title: TMCO1 regulates cell proliferation, metastasis and EMT signaling through CALR, promoting ovarian cancer progression and cisplatin resistance.
[Comparison of Clinical Characteristics of JAK2, CALR and Tri-Negative Driving Mutant Type in Patients with Essential Thrombocythemia].
Title: [Comparison of Clinical Characteristics of JAK2, CALR and Tri-Negative Driving Mutant Type in Patients with Essential Thrombocythemia].
Calreticulin and JAK2V617F driver mutations induce distinct mitotic defects in myeloproliferative neoplasms.
Title: Calreticulin and JAK2V617F driver mutations induce distinct mitotic defects in myeloproliferative neoplasms.
Identification and characterization of calreticulin as a novel plasminogen receptor.
Title: Identification and characterization of calreticulin as a novel plasminogen receptor.
Calreticulin Regulates SARS-CoV-2 Spike Protein Turnover and Modulates SARS-CoV-2 Infectivity.
Title: Calreticulin Regulates SARS-CoV-2 Spike Protein Turnover and Modulates SARS-CoV-2 Infectivity.
JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms.
Title: JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms.
Calreticulin Expression in Human Carcinomas: A Systematic Review and Meta-Analysis.
Title: Calreticulin Expression in Human Carcinomas: A Systematic Review and Meta-Analysis.
Mutation-Driven S100A8 Overexpression Confers Aberrant Phenotypes in Type 1 CALR-Mutated MPN.
Title: Mutation-Driven S100A8 Overexpression Confers Aberrant Phenotypes in Type 1 CALR-Mutated MPN.

Submit: New GeneRIF Correction See all GeneRIFs (425)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Primary myelofibrosis MedGen: C0001815 OMIM: 254450 GeneReviews: Not available	Compare labs
Thrombocythemia 1 MedGen: C3277671 OMIM: 187950 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 is identified to have a physical interaction with calreticulin (CALR) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with calreticulin (CALR) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
	env	The ubiquitous eukaryotic protein calreticulin binds to newly synthesized HIV-1 gp160, suggesting that calreticulin might act as a chaperone	PubMed
Rev	rev	HIV-1 Rev interacting protein, calreticulin (CALR), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with CALR is increased by RRE	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of calreticulin (CALR) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M84739 (e-PCR)
- UniSTS:36938

NoName (e-PCR)
- UniSTS:483997

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables RNA binding	HDA more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables carbohydrate binding	TAS Traceable Author Statement more info	PubMed
enables complement component C1q complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables complement component C1q complex binding	TAS Traceable Author Statement more info	PubMed
enables hormone binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular sequestering activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear androgen receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear export signal receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	TAS Traceable Author Statement more info	PubMed
enables protein-folding chaperone binding	TAS Traceable Author Statement more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	TAS Traceable Author Statement more info	PubMed
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lithium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to virus	IEA Inferred from Electronic Annotation more info
involved_in cellular senescence	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cortical actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in glucocorticoid receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in intracellular calcium ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intracellular steroid hormone receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of retinoic acid receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of translation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of trophoblast cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptide antigen assembly with MHC class I protein complex	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide antigen assembly with MHC class I protein complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of positive regulation of cell cycle	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of dendritic cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phagocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein export from nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding	TAS Traceable Author Statement more info	PubMed
involved_in protein folding in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
involved_in protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation by protein folding	TAS Traceable Author Statement more info	PubMed
involved_in protein stabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	TAS Traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of meiotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to glycoside	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in sequestering of calcium ion	TAS Traceable Author Statement more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of MHC class I peptide loading complex	IDA Inferred from Direct Assay more info	PubMed
part_of MHC class I peptide loading complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in cell surface	TAS Traceable Author Statement more info	PubMed
located_in collagen-containing extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in cortical granule	ISS Inferred from Sequence or Structural Similarity more info
located_in cytolytic granule	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endocytic vesicle lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum quality control compartment	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in lumenal side of endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info
located_in ribosome	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in smooth endoplasmic reticulum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calreticulin

Names: CRP55; ERp60; HACBP; Sicca syndrome antigen A (autoantigen Ro; calreticulin); calregulin; endoplasmic reticulum resident protein 60; epididymis secretory sperm binding protein Li 99n; grp60

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.