• Gene id: 811

Gene Summary

• Gene Symbol: CALR   Gene   UCSC   Ensembl
• Aliases: CRT, HEL-S-99n, RO, SSA, cC1qR
• Gene name: calreticulin
• Alternate names: calreticulin, CRP55, ERp60, HACBP, Sicca syndrome antigen A (autoantigen Ro; calreticulin), calregulin, endoplasmic reticulum resident protein 60, epididymis secretory sperm binding protein Li 99n, grp60,
• Gene location: 19p13.13 (12938608: 12944488)     Exons: 9     NC_000019.10
• Gene summary(Entrez): 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 cal
• OMIM: 608204

SNPs

rs10129954

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.72683993C>T
NC_000014.8   g.73150701C>T|SEQ=[C/T]|GENE=DPF3

rs779944215

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000001.11   g.167880125_167880126GT[1]
NC_000001.10   g.167849363_167849364GT[1]
NG_016139.1   g.39088_39089AC[1]
NM_018417.6   c.1203_1204AC[1]
NM_018417.5   c.1203_1204AC[1]
NM_018417.4   c.1203_1204AC[1]
NM_001167749.3   c.744_745AC[1]
NM_001167749.2   c.744_7

Protein Summary

• Protein general information: P27797  
  • Name: Calreticulin (CRP55) (Calregulin) (Endoplasmic reticulum resident protein 60) (ERp60) (HACBP) (grp60)
  • Length: 417  
  • Mass: 48142
• Sequence:

  MLLSVPLLLGLLGLAVAEPAVYFKEQFLDGDGWTSRWIESKHKSDFGKFVLSSGKFYGDEEKDKGLQTSQDARFY
  ALSASFEPFSNKGQTLVVQFTVKHEQNIDCGGGYVKLFPNSLDQTDMHGDSEYNIMFGPDICGPGTKKVHVIFNY
  KGKNVLINKDIRCKDDEFTHLYTLIVRPDNTYEVKIDNSQVESGSLEDDWDFLPPKKIKDPDASKPEDWDERAKI
  DDPTDSKPEDWDKPEHIPDPDAKKPEDWDEEMDGEWEPPVIQNPEYKGEWKPRQIDNPDYKGTWIHPEIDNPEYS
  PDPSIYAYDNFGVLGLDLWQVKSGTIFDNFLITNDEAYAEEFGNETWGVTKAAEKQMKDKQDEEQRLKEEEEDKK
  RKEEEEAEDKEDDEDKDEDEEDEEDKEEDEEEDVPGQAKDEL

• Structural information:
  • Interpro: IPR001580  IPR018124  IPR009169  IPR009033  IPR013320  
  • Prosite: PS00803 PS00804 PS00805 PS00014
  • PDB: 2CLR 3DOW 3POS 3POW 5LK5 5V90 6ENY
  • PDBsum: 2CLR 3DOW 3POS 3POW 5LK5 5V90 6ENY
  • DIP: 104
  • STRING: ENSP00000320866
• Other Databases: GeneCards:  CALR  Malacards:  CALR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034975	protein folding in endoplasmic reticulum	TAS	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0006457	protein folding	IBA	biological process
GO:0030968	endoplasmic reticulum unfolded protein response	IBA	biological process
GO:0042824	MHC class I peptide loading complex	IDA	cellular component
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IMP	biological process
GO:0050821	protein stabilization	ISS	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:2000510	positive regulation of dendritic cell chemotaxis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006457	protein folding	IEA	biological process
GO:0051082	unfolded protein binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0036500	ATF6-mediated unfolded protein response	TAS	biological process
GO:1990668	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS	biological process
GO:1990668	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050821	protein stabilization	IEA	biological process
GO:0045787	positive regulation of cell cycle	IEA	biological process
GO:0042824	MHC class I peptide loading complex	IEA	cellular component
GO:0034504	protein localization to nucleus	IEA	biological process
GO:0030866	cortical actin cytoskeleton organization	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0003729	mRNA binding	IEA	molecular function
GO:0002502	peptide antigen assembly with MHC class I protein complex	IEA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0071285	cellular response to lithium ion	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0032355	response to estradiol	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0010033	response to organic substance	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005790	smooth endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0003729	mRNA binding	IEA	molecular function
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0090398	cellular senescence	IEA	biological process
GO:0050766	positive regulation of phagocytosis	IEA	biological process
GO:0044322	endoplasmic reticulum quality control compartment	IEA	cellular component
GO:0040020	regulation of meiotic nuclear division	IEA	biological process
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0042562	hormone binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0042277	peptide binding	IEA	molecular function
GO:0033574	response to testosterone	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0003729	mRNA binding	IDA	molecular function
GO:0050681	androgen receptor binding	IDA	molecular function
GO:0001849	complement component C1q complex binding	TAS	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0051082	unfolded protein binding	TAS	molecular function
GO:0005178	integrin binding	IPI	molecular function
GO:0030246	carbohydrate binding	TAS	molecular function
GO:0044183	protein folding chaperone	TAS	molecular function
GO:0051087	chaperone binding	TAS	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0017148	negative regulation of translation	IDA	biological process
GO:0002502	peptide antigen assembly with MHC class I protein complex	ISS	biological process
GO:0006457	protein folding	TAS	biological process
GO:0071157	negative regulation of cell cycle arrest	IGI	biological process
GO:0008284	positive regulation of cell population proliferation	IGI	biological process
GO:0017148	negative regulation of translation	TAS	biological process
GO:0022417	protein maturation by protein folding	TAS	biological process
GO:0042824	MHC class I peptide loading complex	ISS	cellular component
GO:0045787	positive regulation of cell cycle	IGI	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0033144	negative regulation of intracellular steroid hormone receptor signaling pathway	IDA	biological process
GO:0045665	negative regulation of neuron differentiation	IDA	biological process
GO:0005844	polysome	IDA	cellular component
GO:0009986	cell surface	TAS	cellular component
GO:0042921	glucocorticoid receptor signaling pathway	TAS	biological process
GO:0050766	positive regulation of phagocytosis	ISS	biological process
GO:0051208	sequestering of calcium ion	TAS	biological process
GO:0090398	cellular senescence	IGI	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0033018	sarcoplasmic reticulum lumen	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:1901164	negative regulation of trophoblast cell migration	IMP	biological process
GO:0005615	extracellular space	IMP	cellular component
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0006611	protein export from nucleus	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0006874	cellular calcium ion homeostasis	TAS	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0005509	calcium ion binding	TAS	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003677	DNA binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05170	Human immunodeficiency virus 1 infection
hsa04141	Protein processing in endoplasmic reticulum
hsa05169	Epstein-Barr virus infection
hsa04145	Phagosome
hsa05142	Chagas disease
hsa04612	Antigen processing and presentation

Diseases

Associated diseases	References
Myelofibrosis	KEGG:H01605
Essential thrombocytosis	KEGG:H01612
Myelofibrosis	KEGG:H01605
Essential thrombocytosis	KEGG:H01612
Essential thrombocythemia	PMID:25860380
Thrombocytosis	PMID:26608331
pancreatic ductal carcinoma	PMID:15289361
Myelofibrosis	PMID:24997152
Sideroblastic anemia	PMID:24325359
acute myeloid leukemia	PMID:26640226
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq