ENSG00000179218


Homo sapiens

Features
Gene ID: ENSG00000179218
  
Biological name :CALR
  
Synonyms : CALR / calreticulin / P27797
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.13
Gene start: 12938578
Gene end: 12944489
  
Corresponding Affymetrix probe sets: 200935_at (Human Genome U133 Plus 2.0 Array)   212953_x_at (Human Genome U133 Plus 2.0 Array)   214315_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000465105
Ensembl peptide - ENSP00000465918
Ensembl peptide - ENSP00000466037
Ensembl peptide - ENSP00000320866
NCBI entrez gene - 811     See in Manteia.
OMIM - 109091
RefSeq - NM_004343
RefSeq Peptide - NP_004334
swissprot - V9HW88
swissprot - K7EJB9
swissprot - K7EL50
swissprot - K7ELE2
swissprot - P27797
Ensembl - ENSG00000179218
  
Related genetic diseases (OMIM): 187950 - Thrombocythemia, somatic, 187950
  254450 - Myelofibrosis, somatic, 254450
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 calrENSDARG00000076290Danio rerio
 CALRENSGALG00000040368Gallus gallus
 CalrENSMUSG00000003814Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CALR3 / Q96L12 / calreticulin 3ENSG0000026905845
CANX / P27824 / calnexinENSG0000012702243
CLGN / O14967 / calmeginENSG0000015313240


Protein motifs (from Interpro)
Interpro ID Name
 IPR001580  Calreticulin/calnexin
 IPR009033  Calreticulin/calnexin, P domain superfamily
 IPR009169  Calreticulin
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR018124  Calreticulin/calnexin, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS
 biological_processGO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
 biological_processGO:0002502 peptide antigen assembly with MHC class I protein complex ISS
 biological_processGO:0006355 regulation of transcription, DNA-templated TAS
 biological_processGO:0006457 protein folding IEA
 biological_processGO:0006611 protein export from nucleus IDA
 biological_processGO:0006874 cellular calcium ion homeostasis TAS
 biological_processGO:0006898 receptor-mediated endocytosis TAS
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0008284 positive regulation of cell proliferation IGI
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010595 positive regulation of endothelial cell migration IMP
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0017148 negative regulation of translation TAS
 biological_processGO:0022417 protein maturation by protein folding TAS
 biological_processGO:0030866 cortical actin cytoskeleton organization IEA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0033144 negative regulation of intracellular steroid hormone receptor signaling pathway IDA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0034504 protein localization to nucleus IEA
 biological_processGO:0034975 protein folding in endoplasmic reticulum TAS
 biological_processGO:0036500 ATF6-mediated unfolded protein response TAS
 biological_processGO:0040020 regulation of meiotic nuclear division IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042921 glucocorticoid receptor signaling pathway TAS
 biological_processGO:0042981 regulation of apoptotic process TAS
 biological_processGO:0045665 negative regulation of neuron differentiation IDA
 biological_processGO:0045740 positive regulation of DNA replication IGI
 biological_processGO:0045787 positive regulation of cell cycle IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0048387 negative regulation of retinoic acid receptor signaling pathway IDA
 biological_processGO:0050766 positive regulation of phagocytosis IEA
 biological_processGO:0050821 protein stabilization IEA
 biological_processGO:0051208 sequestering of calcium ion TAS
 biological_processGO:0055007 cardiac muscle cell differentiation IEA
 biological_processGO:0061077 chaperone-mediated protein folding IEA
 biological_processGO:0071157 negative regulation of cell cycle arrest IGI
 biological_processGO:0071285 cellular response to lithium ion IEA
 biological_processGO:0071310 cellular response to organic substance IEA
 biological_processGO:0090398 cellular senescence IEA
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading IMP
 biological_processGO:1901164 negative regulation of trophoblast cell migration IMP
 biological_processGO:1901224 positive regulation of NIK/NF-kappaB signaling IEA
 biological_processGO:1990668 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane TAS
 biological_processGO:2000510 positive regulation of dendritic cell chemotaxis IMP
 cellular_componentGO:0001669 acrosomal vesicle IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005622 intracellular TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005790 smooth endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005844 polysome IDA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0031012 extracellular matrix IEA
 cellular_componentGO:0033018 sarcoplasmic reticulum lumen IEA
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS
 cellular_componentGO:0042824 MHC class I peptide loading complex ISS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0044322 endoplasmic reticulum quality control compartment IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071556 integral component of lumenal side of endoplasmic reticulum membrane TAS
 cellular_componentGO:0071682 endocytic vesicle lumen TAS
 molecular_functionGO:0001849 complement component C1q binding TAS
 molecular_functionGO:0003677 DNA binding NAS
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003729 mRNA binding IDA
 molecular_functionGO:0005178 integrin binding IPI
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008270 zinc ion binding TAS
 molecular_functionGO:0030246 carbohydrate binding TAS
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042277 peptide binding IEA
 molecular_functionGO:0042562 hormone binding IEA
 molecular_functionGO:0044183 protein binding involved in protein folding TAS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050681 androgen receptor binding IDA
 molecular_functionGO:0051082 unfolded protein binding IEA
 molecular_functionGO:0051087 chaperone binding TAS


Pathways (from Reactome)
Pathway description
ER-Phagosome pathway
Assembly of Viral Components at the Budding Site
Scavenging by Class A Receptors
Scavenging by Class F Receptors
ATF6 (ATF6-alpha) activates chaperone genes
Calnexin/calreticulin cycle
Antigen Presentation: Folding, assembly and peptide loading of class I MHC


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
Show

 HP:0000924 Abnormality of the musculoskeletal system "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators]
Show

 HP:0001063 Acrocyanosis 
Show

 HP:0001428 Somatic mutation 
Show

 HP:0001658 Myocardial infarction 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0001894 Thrombocytosis 
Show

 HP:0002326 Transient ischemic attack 
Show

 HP:0002488 Acute leukemia 
Show

 HP:0002863 Myelodysplasia 
Show

 HP:0003010 Prolonged bleeding time 
Show

 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
Show

 HP:0003540 Abnormal platelet aggregation 
Show

 HP:0004420 Arterial thrombosis 
Show

 HP:0004936 Venous thrombosis 
Show

 HP:0005513 Increased megakaryocyte precursor cells 
Show

 HP:0005547 Myeloproliferative disorder 
Show

 HP:0011875 Abnormal platelet morphology "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson]
Show

 HP:0011974 Myelofibrosis "Replacement of bone marrow by fibrous tissue." [HPO:probinson]
Show

 HP:0100576 Amaurosis fugax "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken]
Show

 HP:0100749 Chest pain 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127022 CANX / P27824 / calnexin  / complex
 ENSG00000204267 TAP2 / Q03519 / transporter 2, ATP binding cassette subfamily B member  / reaction
 ENSG00000167004 PDIA3 / P30101 / protein disulfide isomerase family A member 3  / reaction / complex
 ENSG00000168394 TAP1 / Q03518 / transporter 1, ATP binding cassette subfamily B member  / reaction
 ENSG00000089597 GANAB / Q14697 / glucosidase II alpha subunit  / reaction
 ENSG00000231925 TAPBP / O15533 / TAP binding protein  / reaction
 ENSG00000130175 P14314 / PRKCSH / protein kinase C substrate 80K-H  / reaction
 ENSG00000265808 O75396 / SEC22B / SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr