ENSG00000126247


Homo sapiens

Features
Gene ID: ENSG00000126247
  
Biological name :CAPNS1
  
Synonyms : calpain small subunit 1 / CAPNS1 / P04632
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.12
Gene start: 36139575
Gene end: 36150353
  
Corresponding Affymetrix probe sets: 200001_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000486032
Ensembl peptide - ENSP00000487115
Ensembl peptide - ENSP00000475804
Ensembl peptide - ENSP00000486832
Ensembl peptide - ENSP00000246533
Ensembl peptide - ENSP00000464849
Ensembl peptide - ENSP00000464903
Ensembl peptide - ENSP00000465575
Ensembl peptide - ENSP00000466113
Ensembl peptide - ENSP00000466386
Ensembl peptide - ENSP00000466601
Ensembl peptide - ENSP00000468041
Ensembl peptide - ENSP00000468591
Ensembl peptide - ENSP00000474036
Ensembl peptide - ENSP00000474280
Ensembl peptide - ENSP00000475159
NCBI entrez gene - 826     See in Manteia.
OMIM - 114170
RefSeq - NM_001302632
RefSeq - XM_011527359
RefSeq - XM_005259296
RefSeq - XM_005259295
RefSeq - NM_001749
RefSeq - NM_001302633
RefSeq - NM_001003962
RefSeq Peptide - NP_001003962
RefSeq Peptide - NP_001289561
RefSeq Peptide - NP_001289562
RefSeq Peptide - NP_001740
swissprot - K7ELJ7
swissprot - K7EKD8
swissprot - K7EIV0
swissprot - A0A0C4DGQ5
swissprot - A0A075B7C0
swissprot - P04632
swissprot - S4R3F9
swissprot - U3KPR7
swissprot - U3KQE2
swissprot - K7ES78
swissprot - K7EMQ1
swissprot - K7EM73
Ensembl - ENSG00000126247
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 capns1aENSDARG00000035329Danio rerio
 capns1bENSDARG00000013804Danio rerio
 Capns1ENSMUSG00000001794Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CAPNS2 / Q96L46 / calpain small subunit 2ENSG0000025681263
GCA / P28676 / grancalcinENSG0000011527126
SRI / P30626 / sorcinENSG0000007514226
PEF1 / Q9UBV8 / penta-EF-hand domain containing 1ENSG0000016251725
PDCD6 / O75340 / programmed cell death 6ENSG0000024991518


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR029642  Calpain small subunit 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0008284 positive regulation of cell proliferation TAS
 biological_processGO:0016241 regulation of macroautophagy NAS
 biological_processGO:0022617 extracellular matrix disassembly TAS
 biological_processGO:0070268 cornification TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004175 endopeptidase activity TAS
 molecular_functionGO:0004198 calcium-dependent cysteine-type endopeptidase activity IDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Degradation of the extracellular matrix
Formation of the cornified envelope
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimers disease models


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000176749 CDK5R1 / Q15078 / cyclin dependent kinase 5 regulatory subunit 1  / reaction
 ENSG00000143631 FLG / P20930 / filaggrin  / reaction
 ENSG00000014216 CAPN1 / P07384 / calpain 1  / complex
 ENSG00000162909 CAPN2 / P17655 / calpain 2  / complex
 ENSG00000039068 CDH1 / P12830 / cadherin 1  / reaction
 ENSG00000153113 CAST / P20810 / calpastatin  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr