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Calpain small subunit 1, also known as CAPN4, is a protein that in humans is encoded by the CAPNS1 gene.[5][6][7]

CAPNS1
Protein CAPNS1 PDB 1aj5.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCAPNS1, 30K, CALPAIN4, CANP, CANPS, CAPN4, CDPS, CSS1, calpain small subunit 1
External IDsMGI: 88266 HomoloGene: 1327 GeneCards: CAPNS1
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for CAPNS1
Genomic location for CAPNS1
Band19q13.12Start36,139,575 bp[1]
End36,150,353 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001003962
NM_001302632
NM_001302633
NM_001749

NM_009795

RefSeq (protein)

NP_001003962
NP_001289561
NP_001289562
NP_001740

NP_033925

Location (UCSC)Chr 19: 36.14 – 36.15 MbChr 7: 30.19 – 30.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. The small regulatory subunit consists of an N-terminal domain, containing about 30% glycine residues and a C-terminal Ca-binding domain[8]. Two transcript variants encoding the same protein have been identified for this gene.[7]

Contents

FunctionsEdit

Myotonic dystrophyEdit

This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy.[7]

BiomarkerEdit

Elevated expression of Capn4 has been found to be associated with progression of various cancers such as hepatocellular and renal carcinoma. [9]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000126247 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001794 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Miyake S, Emori Y, Suzuki K (Jan 1987). "Gene organization of the small subunit of human calcium-activated neutral protease". Nucleic Acids Res. 14 (22): 8805–17. doi:10.1093/nar/14.22.8805. PMC 311912. PMID 3024120.
  6. ^ Ohno S, Emori Y, Suzuki K (Sep 1986). "Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease". Nucleic Acids Res. 14 (13): 5559. PMC 311560. PMID 3016651.
  7. ^ a b c "Entrez Gene: CAPNS1 calpain, small subunit 1".
  8. ^ Lin GD, Chattopadhyay M, Maki KKW, Wang M, Carson L, Jin PW, Yuen E, Takano M, Hatanaka LJ, Narayana SVL. Crystal structure of calcium bound domain VI of calpain at 1.9A resolution and its role in enzyme assembly, regulation, and inhibitor binding. Nat Struct Biol 1997; 4(7):539–547.
  9. ^ Zhuang Q (Apr 2014). "Capn4 mRNA level is correlated with tumour progression and clinical outcome in clear cell renal cell carcinoma". J Int Med Res. 42: 282–91. doi:10.1177/0300060513505524. PMID 24514433.

External linksEdit

Further readingEdit