CAPNS1

CAPNS1
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)
Chr.Chromosome 19 (human)[1]
Band19q13.12Start36,139,575 bp[1]
End36,150,353 bp[1]
Orthologs
SpeciesHumanMouse
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
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

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

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]

Functions

Myotonic dystrophy

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

Biomarker

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000126247 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 3 "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.

Further reading

  • Suzuki K, Sorimachi H, Yoshizawa T, et al. (1996). "Calpain: novel family members, activation, and physiologic function". Biol. Chem. Hoppe-Seyler. 376 (9): 523–9. PMID 8561910.
  • Tidball JG, Spencer MJ (2000). "Calpains and muscular dystrophies". Int. J. Biochem. Cell Biol. 32 (1): 1–5. doi:10.1016/S1357-2725(99)00095-3. PMID 10661889.
  • Huang Y, Wang KK (2001). "The calpain family and human disease". Trends in Molecular Medicine. 7 (8): 355–62. doi:10.1016/S1471-4914(01)02049-4. PMID 11516996.
  • Reverter D, Sorimachi H, Bode W (2001). "The structure of calcium-free human m-calpain: implications for calcium activation and function". Trends Cardiovasc. Med. 11 (6): 222–9. doi:10.1016/S1050-1738(01)00112-8. PMID 11673052.
  • Banik NL, DeVries GH, Neuberger T, et al. (1991). "Calcium-activated neutral proteinase (CANP; calpain) activity in Schwann cells: immunofluorescence localization and compartmentation of mu- and mCANP". J. Neurosci. Res. 29 (3): 346–54. doi:10.1002/jnr.490290310. PMID 1656060.
  • Ohno S, Minoshima S, Kudoh J, et al. (1990). "Four genes for the calpain family locate on four distinct human chromosomes". Cytogenet. Cell Genet. 53 (4): 225–9. doi:10.1159/000132937. PMID 2209092.
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
  • Zhang W, Lane RD, Mellgren RL (1996). "The major calpain isozymes are long-lived proteins. Design of an antisense strategy for calpain depletion in cultured cells". J. Biol. Chem. 271 (31): 18825–30. doi:10.1074/jbc.271.31.18825. PMID 8702541.
  • Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
  • Noguchi M, Sarin A, Aman MJ, et al. (1997). "Functional cleavage of the common cytokine receptor gamma chain (gammac) by calpain". Proc. Natl. Acad. Sci. U.S.A. 94 (21): 11534–9. doi:10.1073/pnas.94.21.11534. PMC 23528. PMID 9326644.
  • Strobl S, Fernandez-Catalan C, Braun M, et al. (2000). "The crystal structure of calcium-free human m-calpain suggests an electrostatic switch mechanism for activation by calcium". Proc. Natl. Acad. Sci. U.S.A. 97 (2): 588–92. doi:10.1073/pnas.97.2.588. PMC 15374. PMID 10639123.
  • Masumoto H, Nakagawa K, Irie S, et al. (2000). "Crystallization and preliminary X-ray analysis of recombinant full-length human m-calpain". Acta Crystallogr. D. 56 (Pt 1): 73–5. doi:10.1107/S0907444999013748. PMID 10666632.
  • Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
  • Reverter D, Strobl S, Fernandez-Catalan C, et al. (2002). "Structural basis for possible calcium-induced activation mechanisms of calpains". Biol. Chem. 382 (5): 753–66. doi:10.1515/BC.2001.091. PMID 11517928.


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