CAPNS1

CAPNS1
Identifikatori
Aliasi
Vanjski ID-jevi	GeneCards: [1]
Ortolozi
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	n; a
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	Wikipodaci
Pogledaj/uredi – čovjek

Kalpainska mala podjedinica 1 (CSS1) jest protein koji je kod ljudi kodiran genom CAPNS1 sa q kraka hromosoma 19.^[1]^[2]^[3]

Struktura

Kalpaini su sveprisutna, dobro konzervirana porodica cisteinskih proteaza ovisnih o kalciju. Porodice kalpaina su uključene u neurodegenerativne procese, jer njihova aktivacija može biti izazvana prilivom kalcija i oksidativnim stresom. Kalpain I i II su heterodimeri sa različitim velikim podjedinicama povezanim sa zajedničkim malim podjedinicama, koje su sve kodirane različitim genima. Mala regulatorna podjedinica sastoji se od N-terminalnog domena, koji sadrži oko 30% ostataka glicina i C-terminalnog Ca-vezujućeg domena.^[4] Two transcript variants encoding the same protein have been identified for this gene.^[3]

Funkcije

Miotonusna distrofija

Ovaj gen kodira malu podjedinicu zajedničku i za kalpain I i za II i povezan je sa miotonusnom distrofijom.^[3]

Biomarker

Utvrđeno je da je povećana ekspresija CAPNS1 povezana s progresijom različitih karcinoma kao što su hepatoćerlijskii i bubrežni karcinom. ^[5]

Reference

^ Miyake S, Emori Y, Suzuki K (novembar 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.
^ Ohno S, Emori Y, Suzuki K (juli 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.
^ ^a ^b ^c "Entrez Gene: CAPNS1 calpain, small subunit 1".
^ Lin GD, Chattopadhyay D, Maki M, Wang KK, Carson M, Jin L, Yuen PW, Takano E, Hatanaka M, DeLucas LJ, Narayana SV (juli 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. doi:10.1038/nsb0797-539. PMID 9228946. S2CID 31913560.
^ 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.

Dopunska literatura

Suzuki K, Sorimachi H, Yoshizawa T, Kinbara K, Ishiura S (septembar 1995). "Calpain: novel family members, activation, and physiologic function". Biological Chemistry Hoppe-Seyler. 376 (9): 523–9. doi:10.1515/bchm3.1995.376.9.523. PMID 8561910.
Tidball JG, Spencer MJ (januar 2000). "Calpains and muscular dystrophies". The International Journal of Biochemistry & Cell Biology. 32 (1): 1–5. doi:10.1016/S1357-2725(99)00095-3. PMID 10661889.
Huang Y, Wang KK (august 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 (august 2001). "The structure of calcium-free human m-calpain: implications for calcium activation and function". Trends in Cardiovascular Medicine. 11 (6): 222–9. doi:10.1016/S1050-1738(01)00112-8. PMID 11673052.
Banik NL, DeVries GH, Neuberger T, Russell T, Chakrabarti AK, Hogan EL (juli 1991). "Calcium-activated neutral proteinase (CANP; calpain) activity in Schwann cells: immunofluorescence localization and compartmentation of mu- and mCANP". Journal of Neuroscience Research. 29 (3): 346–54. doi:10.1002/jnr.490290310. PMID 1656060. S2CID 40120102.
Ohno S, Minoshima S, Kudoh J, Fukuyama R, Shimizu Y, Ohmi-Imajoh S, Shimizu N, Suzuki K (1990). "Four genes for the calpain family locate on four distinct human chromosomes". Cytogenetics and Cell Genetics. 53 (4): 225–9. doi:10.1159/000132937. PMID 2209092.
Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (april 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Zhang W, Lane RD, Mellgren RL (august 1996). "The major calpain isozymes are long-lived proteins. Design of an antisense strategy for calpain depletion in cultured cells". The Journal of Biological Chemistry. 271 (31): 18825–30. doi:10.1074/jbc.271.31.18825. PMID 8702541.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (april 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Noguchi M, Sarin A, Aman MJ, Nakajima H, Shores EW, Henkart PA, Leonard WJ (oktobar 1997). "Functional cleavage of the common cytokine receptor gamma chain (gammac) by calpain". Proceedings of the National Academy of Sciences of the United States of America. 94 (21): 11534–9. Bibcode:1997PNAS...9411534N. doi:10.1073/pnas.94.21.11534. PMC 23528. PMID 9326644.
Strobl S, Fernandez-Catalan C, Braun M, Huber R, Masumoto H, Nakagawa K, Irie A, Sorimachi H, Bourenkow G, Bartunik H, Suzuki K, Bode W (januar 2000). "The crystal structure of calcium-free human m-calpain suggests an electrostatic switch mechanism for activation by calcium". Proceedings of the National Academy of Sciences of the United States of America. 97 (2): 588–92. Bibcode:2000PNAS...97..588S. doi:10.1073/pnas.97.2.588. PMC 15374. PMID 10639123.
Masumoto H, Nakagawa K, Irie S, Sorimachi H, Suzuki K, Bourenkov GP, Bartunik H, Fernandez-Catalan C, Bode W, Strobl S (januar 2000). "Crystallization and preliminary X-ray analysis of recombinant full-length human m-calpain". Acta Crystallographica Section D. 56 (Pt 1): 73–5. doi:10.1107/S0907444999013748. PMID 10666632.
Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (mart 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
Reverter D, Strobl S, Fernandez-Catalan C, Sorimachi H, Suzuki K, Bode W (maj 2001). "Structural basis for possible calcium-induced activation mechanisms of calpains". Biological Chemistry. 382 (5): 753–66. doi:10.1515/BC.2001.091. PMID 11517928. S2CID 23221865.

Vanjski linkovi

Lokacija ljudskog genoma CAPNS1 i stranica sa detaljima o genu CAPNS1 u UCSC Genome Browseru.

[pmid3024120-1] Miyake S, Emori Y, Suzuki K (novembar 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.

[pmid3016651-2] Ohno S, Emori Y, Suzuki K (juli 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.

[entrez-3] "Entrez Gene: CAPNS1 calpain, small subunit 1".

[pmid9228946-4] Lin GD, Chattopadhyay D, Maki M, Wang KK, Carson M, Jin L, Yuen PW, Takano E, Hatanaka M, DeLucas LJ, Narayana SV (juli 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. doi:10.1038/nsb0797-539. PMID 9228946. S2CID 31913560.

[pmid_=_24514433-5] 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.

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