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CAPN1 (calpain 1)

Identity

Alias (NCBI)CANP
CANP1
CANPL1
SPG76
muCANP
muCL
HGNC (Hugo) CAPN1
HGNC Alias symbmuCANP
muCL
CANP
CANPL1
HGNC Previous namecalpain 1, (mu/I) large subunit
LocusID (NCBI) 823
Atlas_Id 46179
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65181928 and ends at 65212006 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CAPN1 (11q13.1)::ARL2 (11q13.1)CAPN1 (11q13.1)::CAPN1 (11q13.1)CAPN1 (11q13.1)::CS (12q13.3)
CAPN1 (11q13.1)::SPDYC (11q13.1)HMGXB3 (5q32)::CAPN1 (11q13.1)NEUROD6 (7p14.3)::CAPN1 (11q13.1)
POLA2 (11q13.1)::CAPN1 (11q13.1)RASSF1 (3p21.31)::CAPN1 (11q13.1)TJAP1 (6p21.1)::CAPN1 (11q13.1)
HMGXB3 5q32::CAPN1 11q13.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)CAPN1   1476
Cards
Entrez_Gene (NCBI)CAPN1    calpain 1
AliasesCANP; CANP1; CANPL1; SPG76; 
muCANP; muCL
GeneCards (Weizmann)CAPN1
Ensembl hg19 (Hinxton)ENSG00000014216 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000014216 [Gene_View]  ENSG00000014216 [Sequence]  chr11:65181928-65212006 [Contig_View]  CAPN1 [Vega]
ICGC DataPortalENSG00000014216
TCGA cBioPortalCAPN1
AceView (NCBI)CAPN1
Genatlas (Paris)CAPN1
SOURCE (Princeton)CAPN1
Genetics Home Reference (NIH)CAPN1
Genomic and cartography
GoldenPath hg38 (UCSC)CAPN1  -     chr11:65181928-65212006 +  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPN1  -     11q13.1   [Description]    (hg19-Feb_2009)
GoldenPathCAPN1 - 11q13.1 [CytoView hg19]  CAPN1 - 11q13.1 [CytoView hg38]
ImmunoBaseENSG00000014216
Genome Data Viewer NCBICAPN1 [Mapview hg19]  
OMIM114220   616907   
Gene and transcription
Genbank (Entrez)AK022319 AK025380 AK097277 AK301538 AK311001
RefSeq transcript (Entrez)NM_001198868 NM_001198869 NM_005186
Consensus coding sequences : CCDS (NCBI)CAPN1
Gene ExpressionCAPN1 [ NCBI-GEO ]   CAPN1 [ EBI - ARRAY_EXPRESS ]   CAPN1 [ SEEK ]   CAPN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPN1 [ Firebrowse - Broad ]
GenevisibleExpression of CAPN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)823
GTEX Portal (Tissue expression)CAPN1
Human Protein AtlasENSG00000014216-CAPN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07384   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07384  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07384
PhosPhoSitePlusP07384
Domaine pattern : Prosite (Expaxy)CALPAIN_CAT (PS50203)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    THIOL_PROTEASE_CYS (PS00139)   
Domains : Interpro (EBI)C2_III    Calpain_cysteine_protease    Calpain_domain_III    Calpain_III    Calpain_III_sf    CAPN1    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    Papain-like_cys_pep_sf    Pept_cys_AS    Peptidase_C2_calpain_cat   
Domain families : Pfam (Sanger)Calpain_III (PF01067)    EF-hand_8 (PF13833)    Peptidase_C2 (PF00648)   
Domain families : Pfam (NCBI)pfam01067    pfam13833    pfam00648   
Domain families : Smart (EMBL)calpain_III (SM00720)  CysPc (SM00230)  
Conserved Domain (NCBI)CAPN1
PDB (RSDB)1ZCM    2ARY   
PDB Europe1ZCM    2ARY   
PDB (PDBSum)1ZCM    2ARY   
PDB (IMB)1ZCM    2ARY   
Structural Biology KnowledgeBase1ZCM    2ARY   
SCOP (Structural Classification of Proteins)1ZCM    2ARY   
CATH (Classification of proteins structures)1ZCM    2ARY   
SuperfamilyP07384
AlphaFold pdb e-kbP07384   
Human Protein Atlas [tissue]ENSG00000014216-CAPN1 [tissue]
HPRD00253
Protein Interaction databases
DIP (DOE-UCLA)P07384
IntAct (EBI)P07384
BioGRIDCAPN1
STRING (EMBL)CAPN1
ZODIACCAPN1
Ontologies - Pathways
QuickGOP07384
Ontology : AmiGOcalcium-dependent cysteine-type endopeptidase activity  calcium-dependent cysteine-type endopeptidase activity  calcium-dependent cysteine-type endopeptidase activity  calcium-dependent cysteine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  cytoplasm  mitochondrion  lysosome  cytosol  cytosol  plasma membrane  plasma membrane  focal adhesion  proteolysis  proteolysis  proteolysis  peptidase activity  positive regulation of cell population proliferation  membrane  regulation of macroautophagy  receptor catabolic process  regulation of catalytic activity  mammary gland involution  extracellular exosome  self proteolysis  ficolin-1-rich granule lumen  regulation of NMDA receptor activity  
Ontology : EGO-EBIcalcium-dependent cysteine-type endopeptidase activity  calcium-dependent cysteine-type endopeptidase activity  calcium-dependent cysteine-type endopeptidase activity  calcium-dependent cysteine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  cytoplasm  mitochondrion  lysosome  cytosol  cytosol  plasma membrane  plasma membrane  focal adhesion  proteolysis  proteolysis  proteolysis  peptidase activity  positive regulation of cell population proliferation  membrane  regulation of macroautophagy  receptor catabolic process  regulation of catalytic activity  mammary gland involution  extracellular exosome  self proteolysis  ficolin-1-rich granule lumen  regulation of NMDA receptor activity  
Pathways : BIOCARTABIOCARTA_P35ALZHEIMERSPATHWAY    BIOCARTA_INTEGRINPATHWAY    BIOCARTA_MCALPAINPATHWAY    BIOCARTA_UCALPAINPATHWAY   
Pathways : KEGGKEGG_APOPTOSIS    KEGG_ALZHEIMERS_DISEASE   
NDEx NetworkCAPN1
Atlas of Cancer Signalling NetworkCAPN1
Wikipedia pathwaysCAPN1
Orthology - Evolution
OrthoDB823
GeneTree (enSembl)ENSG00000014216
Phylogenetic Trees/Animal Genes : TreeFamCAPN1
Homologs : HomoloGeneCAPN1
Homology/Alignments : Family Browser (UCSC)CAPN1
Gene fusions - Rearrangements
Fusion : MitelmanCAPN1::ARL2 [11q13.1/11q13.1]  
Fusion : MitelmanCAPN1::SPDYC [11q13.1/11q13.1]  
Fusion : MitelmanHMGXB3::CAPN1 [5q32/11q13.1]  
Fusion : MitelmanPOLA2::CAPN1 [11q13.1/11q13.1]  
Fusion : QuiverCAPN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPN1
dbVarCAPN1
ClinVarCAPN1
MonarchCAPN1
1000_GenomesCAPN1 
Exome Variant ServerCAPN1
GNOMAD BrowserENSG00000014216
Varsome BrowserCAPN1
ACMGCAPN1 variants
VarityP07384
Genomic Variants (DGV)CAPN1 [DGVbeta]
DECIPHERCAPN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAPN1 
Mutations
ICGC Data PortalCAPN1 
TCGA Data PortalCAPN1 
Broad Tumor PortalCAPN1
OASIS PortalCAPN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPN1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCAPN1
Mutations and Diseases : HGMDCAPN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCAPN1
DgiDB (Drug Gene Interaction Database)CAPN1
DoCM (Curated mutations)CAPN1
CIViC (Clinical Interpretations of Variants in Cancer)CAPN1
Cancer3DCAPN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114220    616907   
Orphanet25404   
DisGeNETCAPN1
MedgenCAPN1
Genetic Testing Registry CAPN1
NextProtP07384 [Medical]
GENETestsCAPN1
Target ValidationCAPN1
Huge Navigator CAPN1 [HugePedia]
ClinGenCAPN1
Clinical trials, drugs, therapy
MyCancerGenomeCAPN1
Protein Interactions : CTDCAPN1
Pharm GKB GenePA26057
PharosP07384
Clinical trialCAPN1
Miscellaneous
canSAR (ICR)CAPN1
HarmonizomeCAPN1
ARCHS4CAPN1
DataMed IndexCAPN1
Probes
Litterature
PubMed252 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCAPN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:25:36 CET 2022

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