• Gene id: 826

Gene Summary

• Gene Symbol: CAPNS1   Gene   UCSC   Ensembl
• Aliases: CALPAIN4, CANP, CANPS, CAPN4, CDPS, CSS1
• Gene name: calpain small subunit 1
• Alternate names: calpain small subunit 1, CANP small subunit, calcium-activated neutral proteinase small subunit, calcium-dependent protease small subunit 1, calcium-dependent protease, small subunit, calpain 4, small subunit (30K), calpain regulatory subunit, calpain, small pol,
• Gene location: 19q13.12 (58025753: 58046900)     Exons: 10     NC_000016.10
• Gene summary(Entrez): This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subun
• OMIM: 114170

Protein Summary

• Protein general information: P04632  
  • Name: Calpain small subunit 1 (CSS1) (Calcium activated neutral proteinase small subunit) (CANP small subunit) (Calcium dependent protease small subunit) (CDPS) (Calcium dependent protease small subunit 1) (Calpain regulatory subunit)
  • Length: 268  
  • Mass: 28316
• Sequence:

  MFLVNSFLKGGGGGGGGGGGLGGGLGNVLGGLISGAGGGGGGGGGGGGGGGGGGGGTAMRILGGVISAISEAAAQ
  YNPEPPPPRTHYSNIEANESEEVRQFRRLFAQLAGDDMEVSATELMNILNKVVTRHPDLKTDGFGIDTCRSMVAV
  MDSDTTGKLGFEEFKYLWNNIKRWQAIYKQFDTDRSGTICSSELPGAFEAAGFHLNEHLYNMIIRRYSDESGNMD
  FDNFISCLVRLDAMFRAFKSLDKDGTGQIQVNIQEWLQLTMYS

• Structural information:
  • Protein Domains: (91..12-)
    (/note="EF-hand-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (139..17-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (169..20-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR029642  IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • PDB: 1KFU 1KFX 4PHJ 4PHK 4PHM 4WQ2 4WQ3 5D69
  • PDBsum: 1KFU 1KFX 4PHJ 4PHK 4PHM 4WQ2 4WQ3 5D69
  • STRING: ENSP00000246533
• Other Databases: GeneCards:  CAPNS1  Malacards:  CAPNS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	TAS	molecular function
GO:0008284	positive regulation of cell population proliferation	TAS	biological process
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq