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CAPN1 (calpain 1)

Identity

Alias_namescalpain 1
Alias_symbol (synonym)muCANP
muCL
CANP
CANPL1
Other aliasCANP1
SPG76
HGNC (Hugo) CAPN1
LocusID (NCBI) 823
Atlas_Id 46179
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65181215 and ends at 65212006 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  823  calpain 1
AliasesCANP; CANP1; CANPL1; SPG76; 
muCANP; muCL
GeneCards (Weizmann)CAPN1
Ensembl hg19 (Hinxton)ENSG00000014216 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000014216 [Gene_View]  chr11:65181215-65212006 [Contig_View]  CAPN1 [Vega]
ICGC DataPortalENSG00000014216
TCGA cBioPortalCAPN1
AceView (NCBI)CAPN1
Genatlas (Paris)CAPN1
WikiGenes823
SOURCE (Princeton)CAPN1
Genetics Home Reference (NIH)CAPN1
Genomic and cartography
GoldenPath hg38 (UCSC)CAPN1  -     chr11:65181215-65212006 +  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPN1  -     11q13.1   [Description]    (hg19-Feb_2009)
EnsemblCAPN1 - 11q13.1 [CytoView hg19]  CAPN1 - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBICAPN1 [Mapview hg19]  CAPN1 [Mapview hg38]
OMIM114220   616907   
Gene and transcription
Genbank (Entrez)AK022319 AK025380 AK097277 AK301538 AK311001
RefSeq transcript (Entrez)NM_001198868 NM_001198869 NM_005186
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAPN1
Cluster EST : UnigeneHs.735492 [ NCBI ]
CGAP (NCI)Hs.735492
Alternative Splicing GalleryENSG00000014216
Gene ExpressionCAPN1 [ NCBI-GEO ]   CAPN1 [ EBI - ARRAY_EXPRESS ]   CAPN1 [ SEEK ]   CAPN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)823
GTEX Portal (Tissue expression)CAPN1
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
Splice isoforms : SwissVarP07384
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    CAPN1    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    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
DMDM Disease mutations823
Blocks (Seattle)CAPN1
PDB (SRS)1ZCM    2ARY   
PDB (PDBSum)1ZCM    2ARY   
PDB (IMB)1ZCM    2ARY   
PDB (RSDB)1ZCM    2ARY   
Structural Biology KnowledgeBase1ZCM    2ARY   
SCOP (Structural Classification of Proteins)1ZCM    2ARY   
CATH (Classification of proteins structures)1ZCM    2ARY   
SuperfamilyP07384
Human Protein AtlasENSG00000014216
Peptide AtlasP07384
HPRD00253
IPIIPI00011285   IPI00910547   IPI00980386   IPI00983797   IPI00981550   IPI00982252   IPI00979141   IPI00984911   IPI00978538   IPI00981107   IPI00979704   IPI00984376   IPI00976884   
Protein Interaction databases
DIP (DOE-UCLA)P07384
IntAct (EBI)P07384
FunCoupENSG00000014216
BioGRIDCAPN1
STRING (EMBL)CAPN1
ZODIACCAPN1
Ontologies - Pathways
QuickGOP07384
Ontology : AmiGOendopeptidase 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  mitochondrion  lysosome  cytosol  cytosol  plasma membrane  plasma membrane  focal adhesion  proteolysis  proteolysis  proteolysis  positive regulation of cell proliferation  membrane  regulation of macroautophagy  extracellular matrix disassembly  receptor catabolic process  neutrophil degranulation  regulation of catalytic activity  mammary gland involution  extracellular exosome  cornification  self proteolysis  ficolin-1-rich granule lumen  
Ontology : EGO-EBIendopeptidase 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  mitochondrion  lysosome  cytosol  cytosol  plasma membrane  plasma membrane  focal adhesion  proteolysis  proteolysis  proteolysis  positive regulation of cell proliferation  membrane  regulation of macroautophagy  extracellular matrix disassembly  receptor catabolic process  neutrophil degranulation  regulation of catalytic activity  mammary gland involution  extracellular exosome  cornification  self proteolysis  ficolin-1-rich granule lumen  
Pathways : BIOCARTADeregulation of CDK5 in Alzheimers Disease [Genes]    Integrin Signaling Pathway [Genes]    mCalpain and friends in Cell motility [Genes]    uCalpain and friends in Cell spread [Genes]   
Pathways : KEGGProtein processing in endoplasmic reticulum    Apoptosis    Alzheimer's disease   
NDEx NetworkCAPN1
Atlas of Cancer Signalling NetworkCAPN1
Wikipedia pathwaysCAPN1
Orthology - Evolution
OrthoDB823
GeneTree (enSembl)ENSG00000014216
Phylogenetic Trees/Animal Genes : TreeFamCAPN1
HOVERGENP07384
HOGENOMP07384
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]  [t(11;11)(q13;q13)]  
Fusion : MitelmanHMGXB3/CAPN1 [5q32/11q13.1]  [t(5;11)(q32;q13)]  
Fusion : MitelmanPOLA2/CAPN1 [11q13.1/11q13.1]  [t(11;11)(q13;q13)]  
Fusion: TCGAHMGXB3 5q32 CAPN1 11q13.1 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPN1
dbVarCAPN1
ClinVarCAPN1
1000_GenomesCAPN1 
Exome Variant ServerCAPN1
ExAC (Exome Aggregation Consortium)CAPN1 (select the gene name)
Genetic variants : HAPMAP823
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]  
Mutations and Diseases : HGMDCAPN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CAPN1
DgiDB (Drug Gene Interaction Database)CAPN1
DoCM (Curated mutations)CAPN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPN1 (select a term)
intoGenCAPN1
Cancer3DCAPN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114220    616907   
Orphanet
MedgenCAPN1
Genetic Testing Registry CAPN1
NextProtP07384 [Medical]
TSGene823
GENETestsCAPN1
Target ValidationCAPN1
Huge Navigator CAPN1 [HugePedia]
snp3D : Map Gene to Disease823
BioCentury BCIQCAPN1
ClinGenCAPN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD823
Chemical/Pharm GKB GenePA26057
Clinical trialCAPN1
Miscellaneous
canSAR (ICR)CAPN1 (select the gene name)
Probes
Litterature
PubMed183 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAPN1
EVEXCAPN1
GoPubMedCAPN1
iHOPCAPN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:26:38 CEST 2017

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