Kalpain-10

Kalpain-10
Identifikatori
Aliasi	CAPN10
Vanjski ID-jevi	OMIM: 605286 MGI: 1344392 HomoloGene: 36323 GeneCards: CAPN10
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	240,617,705 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	92,875,663 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• cytoskeletal protein binding; • GO:0070122 peptidase activity; • cysteine-type peptidase activity; • hydrolase activity; • SNARE binding; • calcium-dependent cysteine-type endopeptidase activity;
Ćelijska komponenta	• intracellular anatomical structure; • citosol; • ćelijska membrana; • mitohondrija; • citoplazma;
Biološki proces	• actin cytoskeleton reorganization; • positive regulation of glucose import; • cellular component disassembly involved in execution phase of apoptosis; • positive regulation of intracellular transport; • positive regulation of type B pancreatic cell apoptotic process; • Proteoliza; • positive regulation of insulin secretion; • cellular response to insulin stimulus; • type B pancreatic cell apoptotic process;
	Izvori:Amigo / QuickGO
Ortolozi
	11132
	23830
	ENSG00000142330
	ENSMUSG00000026270
	Q9HC96
	Q9ESK3
NM_023089; NM_021251; NM_023083; NM_023084; NM_023085;
	NM_023086; NM_023087; NM_023088
	NM_011796
	NP_075571; NP_075573
	NP_035926
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Kalpain-10 jest protein koji je kod ljudi kodiran genom CAPN10 sa p kraka hromosoma 2.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 672 aminokiseline, a molekulska težina 74.952 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MRAGRGATPA	RELFRDAAFP	AADSSLFCDL	STPLAQFRED	ITWRRPQEIC
ATPRLFPDDP	REGQVKQGLL	GDCWFLCACA	ALQKSRHLLD	QVIPPGQPSW
ADQEYRGSFT	CRIWQFGRWV	EVTTDDRLPC	LAGRLCFSRC	QREDVFWLPL
LEKVYAKVHG	SYEHLWAGQV	ADALVDLTGG	LAERWNLKGV	AGSGGQQDRP
GRWEHRTCRQ	LLHLKDQCLI	SCCVLSPRAG	ARELGEFHAF	IVSDLRELQG
QAGQCILLLR	IQNPWGRRCW	QGLWREGGEG	WSQVDAAVAS	ELLSQLQEGE
FWVEEEEFLR	EFDELTVGYP	VTEAGHLQSL	YTERLLCHTR	ALPGAWVKGQ
SAGGCRNNSG	FPSNPKFWLR	VSEPSEVYIA	VLQRSRLHAA	DWAGRARALV
GDSHTSWSPA	SIPGKHYQAV	GLHLWKVEKR	RVNLPRVLSM	PPVAGTACHA
YDREVHLRCE	LSPGYYLAVP	STFLKDAPGE	FLLRVFSTGR	VSLSAIRAVA
KNTTPGAALP	AGEWGTVQLR	GSWRVGQTAG	GSRNFASYPT	NPCFPFSVPE
GPGPRCVRIT	LHQHCRPSDT	EFHPIGFHIF	QVPEGGRSQD	APPLLLQEPL
LSCVPHRYAQ	EVSRLCLLPA	GTYKVVPSTY	LPDTEGAFTV	TIATRIDRPS
IHSQEMLGQF	LQEVSIMAVM	KT

Funkcija

Kalpaini su sveprisutna, dobro konzervirana porodica cisteinskih proteaza zavisnih od kalcija. Tipski kalpainski proteini su heterodimeri koji se sastoje od nepromjenjive male podjedinice i varijabilnih velikih podjedinica. Velika katalitska podjedinica ima četiri domena: domen I, N-terminalni regulatorni domen koji se obrađuje nakon aktivacije kalpaina; domen II, domen proteaze; domen III, domen linkera nepoznate funkcije; i domen IV, domen sličan kalmodulinu koji vezuje kalcij. Interfejs heterodimera se pretežno nalazi između domena IV i male podjedinice, koja je također domen sličan kalmodulinu koji vezuje kalcij. Ovaj gen kodira veliki podjedinicu. |To je atipičan kalpain po tome što mu nedostaje domena koja veže kalcijum nalik kalmodulinu i umjesto toga ima divergentni C-terminalni domen. Stoga se ne može heterodimerizirati s malom podjedinicom. Po organizaciji je sličan kalpainima 5 i 6. Ovaj gen je povezan sa tipom 2 ili insulin-zavisnim dijabetes melitusom (NIDDM) i nalazi se unutar NIDDM1 regiona. Za ovaj gen opisane su višestruke alternativne varijante transkripta koje kodiraju različite izoforme.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000142330 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026270 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Horikawa Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI (Nov 2000). "Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus" (PDF). Nat Genet. 26 (2): 163–75. doi:10.1038/79876. PMID 11017071. S2CID 5940859. Arhivirano s originala (PDF), 21. 9. 2017. Pristupljeno 3. 4. 2023.
^ Baier LJ, Permana PA, Yang X, Pratley RE, Hanson RL, Shen GQ, Mott D, Knowler WC, Cox NJ, Horikawa Y, Oda N, Bell GI, Bogardus C (Oct 2000). "A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance". J Clin Invest. 106 (7): R69–73. doi:10.1172/JCI10665. PMC 387246. PMID 11018080.
^ ^a ^b "Entrez Gene: CAPN10 calpain 10".

Dopunska literatura

Sorimachi H, Ishiura S, Suzuki K (1998). "Structure and physiological function of calpains". Biochem. J. 328 (3): 721–32. doi:10.1042/bj3280721. PMC 1218978. PMID 9396712.
Cox NJ, Hayes MG, Roe CA, et al. (2004). "Linkage of calpain 10 to type 2 diabetes: the biological rationale". Diabetes. 53 Suppl 1: S19–25. doi:10.2337/diabetes.53.2007.s19. PMID 14749261.
Turner MD, Cassell PG, Hitman GA (2006). "Calpain-10: from genome search to function". Diabetes Metab. Res. Rev. 21 (6): 505–14. doi:10.1002/dmrr.578. PMID 16028216. S2CID 39651682.
Horikawa Y (2007). "Calpain-10 (NIDDM1) as a Susceptibility Gene for Common Type 2 Diabetes". Endocr. J. 53 (5): 567–76. doi:10.1507/endocrj.KR-70. PMID 16873988.
Nagase T, Nakayama M, Nakajima D, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
Ma H, Fukiage C, Kim YH, et al. (2001). "Characterization and expression of calpain 10. A novel ubiquitous calpain with nuclear localization". J. Biol. Chem. 276 (30): 28525–31. doi:10.1074/jbc.M100603200. PMID 11375982.
Evans JC, Frayling TM, Cassell PG, et al. (2001). "Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom". Am. J. Hum. Genet. 69 (3): 544–52. doi:10.1086/323315. PMC 1235484. PMID 11481585.
Tsai HJ, Sun G, Weeks DE, et al. (2002). "Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of association". Am. J. Hum. Genet. 69 (6): 1236–44. doi:10.1086/324646. PMC 1235535. PMID 11704924.
Woollard JR, Rothschild MF (2002). "Assignment of the porcine calpain-10 gene (CAPN10) to chromosome 15q23-26". Anim. Genet. 32 (6): 393. doi:10.1046/j.1365-2052.2001.0781d.x. PMID 11736815.
Xiang K, Fang Q, Zheng T, et al. (2002). "[The impact of calpain-10 gene combined-SNP variation on type 2 diabetes mellitus and its related metabolic traits]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 18 (6): 426–30. PMID 11774208.
Elbein SC, Chu W, Ren Q, et al. (2002). "Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians". J. Clin. Endocrinol. Metab. 87 (2): 650–4. doi:10.1210/jcem.87.2.8210. PMID 11836299.
Daimon M, Oizumi T, Saitoh T, et al. (2002). "Calpain 10 gene polymorphisms are related, not to type 2 diabetes, but to increased serum cholesterol in Japanese". Diabetes Res. Clin. Pract. 56 (2): 147–52. doi:10.1016/S0168-8227(01)00372-2. PMID 11891023.
Fullerton SM, Bartoszewicz A, Ybazeta G, et al. (2002). "Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus". Am. J. Hum. Genet. 70 (5): 1096–106. doi:10.1086/339930. PMC 447588. PMID 11891618.
Hoffstedt J, Rydén M, Löfgren P, et al. (2002). "Polymorphism in the Calpain 10 gene influences glucose metabolism in human fat cells". Diabetologia. 45 (2): 276–82. doi:10.1007/s00125-001-0732-2. PMID 11935160.
Malecki MT, Moczulski DK, Klupa T, et al. (2002). "Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population". Eur. J. Endocrinol. 146 (5): 695–9. doi:10.1530/eje.0.1460695. PMID 11980626.
Sun HX, Zhang KX, Du WN, et al. (2002). "Single nucleotide polymorphisms in CAPN10 gene of Chinese people and its correlation with type 2 diabetes mellitus in Han people of northern China". Biomed. Environ. Sci. 15 (1): 75–82. PMID 12046551.
Haddad L, Evans JC, Gharani N, et al. (2002). "Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome". J. Clin. Endocrinol. Metab. 87 (6): 2606–10. doi:10.1210/jcem.87.6.8608. PMID 12050223.

Vanjski linkovi

The MEROPS online database for peptidases and their inhibitors: C02.018 Arhivirano 28. 2. 2008. na Wayback Machine
Lokacija ljudskog genoma CAPN10 i stranica sa detaljima o genu CAPN10 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000142330 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026270 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11017071-5] Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Horikawa Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI (Nov 2000). "Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus" (PDF). Nat Genet. 26 (2): 163–75. doi:10.1038/79876. PMID 11017071. S2CID 5940859. Arhivirano s originala (PDF), 21. 9. 2017. Pristupljeno 3. 4. 2023.

[pmid11018080-6] Baier LJ, Permana PA, Yang X, Pratley RE, Hanson RL, Shen GQ, Mott D, Knowler WC, Cox NJ, Horikawa Y, Oda N, Bell GI, Bogardus C (Oct 2000). "A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance". J Clin Invest. 106 (7): R69–73. doi:10.1172/JCI10665. PMC 387246. PMID 11018080.

[entrez-7] "Entrez Gene: CAPN10 calpain 10".

[5]