CAPNS1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
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Calpain small subunit 1, also known as CAPN4, is a protein that in humans is encoded by the CAPNS1 gene.[1][2][3]

Function

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.[4] Two transcript variants encoding the same protein have been identified for this gene.[3]

Functions

Myotonic dystrophy

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

Biomarker

Elevated expression of Capn4 has been found to be associated with progression of various cancers such as hepatocellular and renal carcinoma. [5]

References

  1. Miyake S, Emori Y, Suzuki K (November 1986). "Gene organization of the small subunit of human calcium-activated neutral protease". Nucleic Acids Research. 14 (22): 8805–17. doi:10.1093/nar/14.22.8805. PMC 311912. PMID 3024120.
  2. Ohno S, Emori Y, Suzuki K (July 1986). "Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease". Nucleic Acids Research. 14 (13): 5559. PMC 311560. PMID 3016651.
  3. 3.0 3.1 3.2 "Entrez Gene: CAPNS1 calpain, small subunit 1".
  4. Lin GD, Chattopadhyay D, Maki M, Wang KK, Carson M, Jin L, Yuen PW, Takano E, Hatanaka M, DeLucas LJ, Narayana SV (July 1997). "Crystal structure of calcium bound domain VI of calpain at 1.9 A resolution and its role in enzyme assembly, regulation, and inhibitor binding". Nature Structural Biology. 4 (7): 539–47. PMID 9228946.
  5. Zhuang Q, Qian X, Cao Y, Fan M, Xu X, He X (April 2014). "Capn4 mRNA level is correlated with tumour progression and clinical outcome in clear cell renal cell carcinoma". The Journal of International Medical Research. 42 (2): 282–91. doi:10.1177/0300060513505524. PMID 24514433.

External links

Further reading



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