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CAPNS1 (calpain small subunit 1)

Identity

Alias_namesCAPN4
Alias_symbol (synonym)CANP
CANPS
30K
CDPS
Other aliasCALPAIN4
CSS1
HGNC (Hugo) CAPNS1
LocusID (NCBI) 826
Atlas_Id 50495
Location 19q13.12  [Link to chromosome band 19q13]
Location_base_pair Starts at 36630828 and ends at 36641255 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALOX15B (17p13.1) / CAPNS1 (19q13.12)C21orf33 (21q22.3) / CAPNS1 (19q13.12)CAPNS1 (19q13.12) / ARHGEF26 (3q25.2)
CAPNS1 (19q13.12) / CAPNS1 (19q13.12)CAPNS1 (19q13.12) / CCDC149 (4p15.2)CAPNS1 (19q13.12) / CHD1 (5q15)
CAPNS1 (19q13.12) / IGSF9 (1q23.2)CAPNS1 (19q13.12) / KLC1 (14q32.33)CAPNS1 (19q13.12) / MTA2 (11q12.3)
CAPNS1 (19q13.12) / NOMO1 (16p13.11)CAPNS1 (19q13.12) / SF1 (11q13.1)CAPNS1 (19q13.12) / SPARC (5q33.1)
CAPNS1 (19q13.12) / TPI1 (12p13.31)CAPNS1 (19q13.12) / WDR62 (19q13.12)FTH1 (11q12.3) / CAPNS1 (19q13.12)
PDCD7 (15q22.31) / CAPNS1 (19q13.12)CAPNS1 19q13.12 / ARHGEF26 3q25.2CAPNS1 19q13.12 / CCDC149 4p15.2
CAPNS1 19q13.12 / CHD1 5q15CAPNS1 19q13.12 / MTA2 11q12.3

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)CAPNS1   1481
Cards
Entrez_Gene (NCBI)CAPNS1  826  calpain small subunit 1
AliasesCALPAIN4; CANP; CANPS; CAPN4; 
CDPS; CSS1
GeneCards (Weizmann)CAPNS1
Ensembl hg19 (Hinxton)ENSG00000126247 [Gene_View]  chr19:36630828-36641255 [Contig_View]  CAPNS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000126247 [Gene_View]  chr19:36630828-36641255 [Contig_View]  CAPNS1 [Vega]
ICGC DataPortalENSG00000126247
TCGA cBioPortalCAPNS1
AceView (NCBI)CAPNS1
Genatlas (Paris)CAPNS1
WikiGenes826
SOURCE (Princeton)CAPNS1
Genetics Home Reference (NIH)CAPNS1
Genomic and cartography
GoldenPath hg19 (UCSC)CAPNS1  -     chr19:36630828-36641255 +  19q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CAPNS1  -     19q13.12   [Description]    (hg38-Dec_2013)
EnsemblCAPNS1 - 19q13.12 [CytoView hg19]  CAPNS1 - 19q13.12 [CytoView hg38]
Mapping of homologs : NCBICAPNS1 [Mapview hg19]  CAPNS1 [Mapview hg38]
OMIM114170   
Gene and transcription
Genbank (Entrez)AK289606 AY007141 BC000592 BC007779 BC011903
RefSeq transcript (Entrez)NM_001003962 NM_001302632 NM_001302633 NM_001749
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)CAPNS1
Cluster EST : UnigeneHs.515371 [ NCBI ]
CGAP (NCI)Hs.515371
Alternative Splicing GalleryENSG00000126247
Gene ExpressionCAPNS1 [ NCBI-GEO ]   CAPNS1 [ EBI - ARRAY_EXPRESS ]   CAPNS1 [ SEEK ]   CAPNS1 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPNS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)826
GTEX Portal (Tissue expression)CAPNS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04632   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04632  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04632
Splice isoforms : SwissVarP04632
PhosPhoSitePlusP04632
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)CAPN4    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_5 (PF13202)    EF-hand_8 (PF13833)   
Domain families : Pfam (NCBI)pfam13202    pfam13833   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)CAPNS1
DMDM Disease mutations826
Blocks (Seattle)CAPNS1
PDB (SRS)1KFU    1KFX    4PHJ    4PHK    4PHM    4WQ2    4WQ3    5D69   
PDB (PDBSum)1KFU    1KFX    4PHJ    4PHK    4PHM    4WQ2    4WQ3    5D69   
PDB (IMB)1KFU    1KFX    4PHJ    4PHK    4PHM    4WQ2    4WQ3    5D69   
PDB (RSDB)1KFU    1KFX    4PHJ    4PHK    4PHM    4WQ2    4WQ3    5D69   
Structural Biology KnowledgeBase1KFU    1KFX    4PHJ    4PHK    4PHM    4WQ2    4WQ3    5D69   
SCOP (Structural Classification of Proteins)1KFU    1KFX    4PHJ    4PHK    4PHM    4WQ2    4WQ3    5D69   
CATH (Classification of proteins structures)1KFU    1KFX    4PHJ    4PHK    4PHM    4WQ2    4WQ3    5D69   
SuperfamilyP04632
Human Protein AtlasENSG00000126247
Peptide AtlasP04632
HPRD00240
IPIIPI00025084   
Protein Interaction databases
DIP (DOE-UCLA)P04632
IntAct (EBI)P04632
FunCoupENSG00000126247
BioGRIDCAPNS1
STRING (EMBL)CAPNS1
ZODIACCAPNS1
Ontologies - Pathways
QuickGOP04632
Ontology : AmiGOcalcium-dependent cysteine-type endopeptidase activity  calcium ion binding  protein binding  cytosol  cytosol  plasma membrane  proteolysis  positive regulation of cell proliferation  membrane  regulation of macroautophagy  extracellular matrix disassembly  extracellular exosome  
Ontology : EGO-EBIcalcium-dependent cysteine-type endopeptidase activity  calcium ion binding  protein binding  cytosol  cytosol  plasma membrane  proteolysis  positive regulation of cell proliferation  membrane  regulation of macroautophagy  extracellular matrix disassembly  extracellular exosome  
Pathways : BIOCARTAuCalpain and friends in Cell spread [Genes]    Integrin Signaling Pathway [Genes]    mCalpain and friends in Cell motility [Genes]    Deregulation of CDK5 in Alzheimers Disease [Genes]    Role of MEF2D in T-cell Apoptosis [Genes]   
NDEx NetworkCAPNS1
Atlas of Cancer Signalling NetworkCAPNS1
Wikipedia pathwaysCAPNS1
Orthology - Evolution
OrthoDB826
GeneTree (enSembl)ENSG00000126247
Phylogenetic Trees/Animal Genes : TreeFamCAPNS1
HOVERGENP04632
HOGENOMP04632
Homologs : HomoloGeneCAPNS1
Homology/Alignments : Family Browser (UCSC)CAPNS1
Gene fusions - Rearrangements
Fusion : MitelmanCAPNS1/ARHGEF26 [19q13.12/3q25.2]  
Fusion : MitelmanCAPNS1/CCDC149 [19q13.12/4p15.2]  [t(4;19)(p15;q13)]  
Fusion : MitelmanCAPNS1/CHD1 [19q13.12/5q15]  [t(5;19)(q21;q13)]  
Fusion : MitelmanCAPNS1/MTA2 [19q13.12/11q12.3]  [t(11;19)(q12;q13)]  
Fusion : MitelmanCAPNS1/WDR62 [19q13.12/19q13.12]  [t(19;19)(q13;q13)]  
Fusion: TCGACAPNS1 19q13.12 ARHGEF26 3q25.2 PRAD
Fusion: TCGACAPNS1 19q13.12 CCDC149 4p15.2 PRAD
Fusion: TCGACAPNS1 19q13.12 CHD1 5q15 LUAD
Fusion: TCGACAPNS1 19q13.12 MTA2 11q12.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPNS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPNS1
dbVarCAPNS1
ClinVarCAPNS1
1000_GenomesCAPNS1 
Exome Variant ServerCAPNS1
ExAC (Exome Aggregation Consortium)CAPNS1 (select the gene name)
Genetic variants : HAPMAP826
Genomic Variants (DGV)CAPNS1 [DGVbeta]
DECIPHER (Syndromes)19:36630828-36641255  ENSG00000126247
CONAN: Copy Number AnalysisCAPNS1 
Mutations
ICGC Data PortalCAPNS1 
TCGA Data PortalCAPNS1 
Broad Tumor PortalCAPNS1
OASIS PortalCAPNS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPNS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAPNS1
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 CAPNS1
DgiDB (Drug Gene Interaction Database)CAPNS1
DoCM (Curated mutations)CAPNS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPNS1 (select a term)
intoGenCAPNS1
Cancer3DCAPNS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114170   
Orphanet
MedgenCAPNS1
Genetic Testing Registry CAPNS1
NextProtP04632 [Medical]
TSGene826
GENETestsCAPNS1
Huge Navigator CAPNS1 [HugePedia]
snp3D : Map Gene to Disease826
BioCentury BCIQCAPNS1
ClinGenCAPNS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD826
Chemical/Pharm GKB GenePA26067
Clinical trialCAPNS1
Miscellaneous
canSAR (ICR)CAPNS1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAPNS1
EVEXCAPNS1
GoPubMedCAPNS1
iHOPCAPNS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:54:59 CEST 2017

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