CAPNS1

CAPNS1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases CAPNS1, 30K, CALPAIN4, CANP, CANPS, CAPN4, CDPS, CSS1, calpain small subunit 1
External IDs MGI: 88266 HomoloGene: 1327 GeneCards: CAPNS1
Orthologs
Species Human Mouse
Entrez

826

12336

Ensembl

ENSG00000126247

ENSMUSG00000001794

UniProt

P04632

O88456

RefSeq (mRNA)

NM_001003962
NM_001302632
NM_001302633
NM_001749

NM_009795

RefSeq (protein)

NP_001003962.1
NP_001289561.1
NP_001289562.1
NP_001740.1

NP_033925.2

Location (UCSC) Chr 19: 36.14 – 36.15 Mb Chr 7: 30.19 – 30.2 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Calpain small subunit 1, also known as CAPN4, is a protein that in humans is encoded by the CAPNS1 gene.[3][4][5]

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.[5]

Functions

Myotonic dystrophy

This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy.[5]

Biomarker

Elevated expression of Capn4 has been found to be associated with progression of various cancers such as hepatocellular and renal carcinoma. [6]

References

Further reading


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