CAPN1 (calpain 1)

2007-02-01  

Identity

HGNC
CAPN1
LOCATION
11q13.1
LOCUSID
823
ALIAS
CANP,CANP1,CANPL1,SPG76,muCANP,muCL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 823
MIM: 114220
HGNC: 1476
Ensembl: ENSG00000014216

Variants:

dbSNP: 823
ClinVar: 823
TCGA: ENSG00000014216
COSMIC: CAPN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000014216ENST00000279247P07384
ENSG00000014216ENST00000524773P07384
ENSG00000014216ENST00000526468E9PL37
ENSG00000014216ENST00000526954E9PRM1
ENSG00000014216ENST00000526966E9PJA6
ENSG00000014216ENST00000527323P07384
ENSG00000014216ENST00000527699E9PMC6
ENSG00000014216ENST00000527739E9PJA6
ENSG00000014216ENST00000528396E9PSA6
ENSG00000014216ENST00000529133E9PQB3
ENSG00000014216ENST00000531068E9PLX0
ENSG00000014216ENST00000532285E9PIA9
ENSG00000014216ENST00000533129P07384
ENSG00000014216ENST00000533820P07384
ENSG00000014216ENST00000533909E9PLC9
ENSG00000014216ENST00000534373E9PJJ3

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
Alzheimer's diseaseKEGGko05010
ApoptosisKEGGhsa04210
Alzheimer's diseaseKEGGhsa05010
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
DiseaseREACTOMER-HSA-1643685
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Developmental BiologyREACTOMER-HSA-1266738
Neutrophil degranulationREACTOMER-HSA-6798695
Neurodegenerative DiseasesREACTOMER-HSA-8863678
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease modelsREACTOMER-HSA-8862803
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381512122024Remote ischemic preconditioning reduces mitochondrial apoptosis mediated by calpain 1 activation in myocardial ischemia-reperfusion injury through calcium channel subunit Cacna2d3.0
388781122024Otud6b induces pulmonary arterial hypertension by mediating the Calpain-1/HIF-1α signaling pathway.0
381512122024Remote ischemic preconditioning reduces mitochondrial apoptosis mediated by calpain 1 activation in myocardial ischemia-reperfusion injury through calcium channel subunit Cacna2d3.0
388781122024Otud6b induces pulmonary arterial hypertension by mediating the Calpain-1/HIF-1α signaling pathway.0
369242312023CAPN1 (Calpain1)-Dependent Cleavage of STIM1 (Stromal Interaction Molecule 1) Results in an Enhanced SOCE (Store-Operated Calcium Entry) in Human Neonatal Platelets.1
374687912023Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.0
369242312023CAPN1 (Calpain1)-Dependent Cleavage of STIM1 (Stromal Interaction Molecule 1) Results in an Enhanced SOCE (Store-Operated Calcium Entry) in Human Neonatal Platelets.1
374687912023Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.0
351493972022Calpain-1 inhibition attenuates in vivo thrombosis in a humanized model of sickle cell disease.0
357568442022Immune suppressive function of IL-1α release in the tumor microenvironment regulated by calpain 1.11
351493972022Calpain-1 inhibition attenuates in vivo thrombosis in a humanized model of sickle cell disease.0
357568442022Immune suppressive function of IL-1α release in the tumor microenvironment regulated by calpain 1.11
323523262021CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.4
328520772021The investigation of calpain in human placenta with fetal growth restriction.1
334866332021Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.4

Citation

Dessen P

CAPN1 (calpain 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46179/haematological-explorer/