CAPNS1

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Calpain, small subunit 1
Protein CAPNS1 PDB 1aj5.png
PDB rendering based on 1aj5.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CAPNS1 ; 30K; CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1
External IDs OMIM114170 MGI88266 HomoloGene1327 ChEMBL: 4962 GeneCards: CAPNS1 Gene
EC number 3.4.22.17
Orthologs
Species Human Mouse
Entrez 826 12336
Ensembl ENSG00000126247 ENSMUSG00000001794
UniProt P04632 O88456
RefSeq (mRNA) NM_001003962 NM_009795
RefSeq (protein) NP_001003962 NP_033925
Location (UCSC) Chr 19:
36.63 – 36.64 Mb
Chr 7:
30.19 – 30.2 Mb
PubMed search [1] [2]

Calpain small subunit 1, also known as CAPN4, is a protein that in humans is encoded by the CAPNS1 gene.[1][2][3]

Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of which are encoded by different genes. Two transcript variants encoding the same protein have been identified for this gene.[3]

Functions[edit]

Myotonic dystrophy[edit]

This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy.[3]

Biomarker[edit]

Elevated expression of Capn4 has been found to be associated with progression of various cancers such as hepatocellular and renal carcinoma. [4]


References[edit]

Further reading[edit]