Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
823
Gene name Gene Name - the full gene name approved by the HGNC.
Calpain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CAPN1
Synonyms (NCBI Gene) Gene synonyms aliases
CANP, CANP1, CANPL1, SPG76, muCANP, muCL
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs375817528 G>A Likely-pathogenic Intron variant
rs756205995 G>A,C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs756830713 G>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs778722037 AG>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs875989787 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023560 hsa-miR-1-3p Proteomics 18668040
MIRT025341 hsa-miR-34a-5p Proteomics 21566225
MIRT025341 hsa-miR-34a-5p Proteomics 21566225
MIRT267872 hsa-miR-140-5p PAR-CLIP 22012620
MIRT267877 hsa-miR-203b-5p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity IBA
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity IDA 2407243, 16411745, 19617626
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity IEA
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
114220 1476 ENSG00000014216
Protein
UniProt ID P07384
Protein name Calpain-1 catalytic subunit (EC 3.4.22.52) (Calcium-activated neutral proteinase 1) (CANP 1) (Calpain mu-type) (Calpain-1 large subunit) (Cell proliferation-inducing gene 30 protein) (Micromolar-calpain) (muCANP)
Protein function Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction (PubMed:19617626, PubMed:21531719, PubMed:2400579). Proteolytically cleaves CTBP1 at 'As
PDB 1ZCM , 2ARY , 7W7O , 7X79 , 8GX3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00648 Peptidase_C2 56 352 Calpain family cysteine protease Family
PF01067 Calpain_III 373 514 Calpain large subunit, domain III Domain
PF13833 EF-hand_8 557 616 EF-hand domain pair Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:2400579, ECO:0000269|PubMed:3017764, ECO:0000269|PubMed:8769305, ECO:0000269|PubMed:8954105, ECO:0000269|PubMed:9271093}.
Sequence
Sequence length 714
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein processing in endoplasmic reticulum
Apoptosis
Necroptosis
Cellular senescence
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Shigellosis
  Degradation of the extracellular matrix
Neutrophil degranulation
Formation of the cornified envelope
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spastic Paraplegia autosomal recessive spastic paraplegia type 76 rs1033093801, rs955142329, rs1590847310, rs778722037, rs756830713, rs756205995, rs875989787, rs875989845, rs375817528 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32998713, 34252349
Adenocarcinoma Mucinous Associate 30737623
Adenocarcinoma of Lung Associate 32395869, 34728688
Adenoma Associate 18085799
Ataxia Associate 32860341
Autism Spectrum Disorder Associate 37168851
Breast Neoplasms Associate 25539577, 27798717
Carcinoma Renal Cell Associate 35308143
Carcinoma Small Cell Stimulate 27456359
Cerebellar Ataxia Associate 32860341