Delta-sarkoglikan - Delta-sarcoglycan

SGCD
Identifikatorlar
Taxalluslar	SGCD, 35DAG, CMD1L, DAGD, SG-delta, SGCDP, SGD, sarcoglycan delta, LGMDR6
Tashqi identifikatorlar	OMIM: 601411 MGI: 1346525 HomoloGene: 285 Generkartalar: SGCD
Gen joylashuvi (odam)
Chr.	Xromosoma 5 (odam)
Oxiri	156,767,788 bp
Gen joylashuvi (Sichqoncha)
Chr.	Xromosoma 11 (sichqoncha)
Oxiri	47,988,969 bp
Gen ontologiyasi
Molekulyar funktsiya	• GO: 0001948 oqsil bilan bog'lanish;
Uyali komponent	• sitoplazma; • membrananing ajralmas komponenti; • distroglikan kompleksi; • hujayra membranasi; • sarcolemma; • distrofin bilan bog'liq glikoprotein kompleksi; • sitoskelet; • membrana; • sarkoglikan kompleksi; • sarkoplazmatik retikulum;
Biologik jarayon	• mushak organlarining rivojlanishi; • membranani tashkil etish; • yurak qisqarishi; • mushak hujayralarining rivojlanishi; • yurak mushak to'qimalarining rivojlanishi; • yurak jarayoni; • hujayralar o'limi; • kaltsiy vositachiligidagi signalizatsiya; • uyali oqsil kompleksining lokalizatsiyasi; • yurak mushaklari tolasining rivojlanishi; • kaltsiy ionining gomeostazasi; • yurak mushaklarining qisqarishi; • koronar qon tomir morfogenezi; • yurak mushak hujayralarining qisqarishi;
	Manbalar:Amigo / QuickGO
Ortologlar
	6444
	24052
	ENSG00000170624
	ENSMUSG00000020354
	92629
	P82347
	NM_000337; NM_001128209; NM_172244
	NM_011891
	NP_000328; NP_001121681; NP_758447
	NP_036021
	Vikidata
Insonni ko'rish / tahrirlash	Sichqonchani ko'rish / tahrirlash

Delta-sarkoglikan a oqsil odamlarda kodlanganligi SGCD gen.^[5]^[6]^[7]^[8]

Funktsiya

Ushbu gen tomonidan kodlangan oqsil bu ma'lum bo'lgan to'rt komponentdan biridir sarkoglikan ning subkompleksi bo'lgan murakkab distrofin-glikoprotein kompleksi (DGC). DGC F-aktin sitoskeletasi va hujayradan tashqari matritsa o'rtasida bog'lanishni hosil qiladi. Ushbu protein skelet va yurak mushaklarida eng ko'p ifoda etilgan. Ushbu gendagi mutatsiyalar autosomal retsessiv bilan bog'liq oyoq-kamar mushak distrofiyasi va kengaygan kardiomiopatiya. Shu bilan bir qatorda ajratilgan izoformlarni kodlovchi transkript variantlari kuzatildi.^[8]

Melanositik hujayralarda SGCD gen ekspressioni tartibga solinishi mumkin MITF.^[9]

O'zaro aloqalar

SGCD ko'rsatildi o'zaro ta'sir qilish bilan FLNC.^[10]^[11]

Adabiyotlar

^ ^a ^b ^v GRCh38: Ensembl relizi 89: ENSG00000170624 - Ansambl, 2017 yil may
^ ^a ^b ^v GRCm38: Ensembl relizi 89: ENSMUSG00000020354 - Ansambl, 2017 yil may
^ "Human PubMed ma'lumotnomasi:". Milliy Biotexnologiya Axborot Markazi, AQSh Milliy Tibbiyot Kutubxonasi.
^ "Sichqoncha PubMed ma'lumotnomasi:". Milliy Biotexnologiya Axborot Markazi, AQSh Milliy Tibbiyot Kutubxonasi.
^ Passos-Bueno MR, Moreira ES, Vaynzof M, Mari SK, Zatz M (dekabr 1996). "Avtosomal retsessiv oyoq-qo'l kamarining distrofiyasi (AR LGMD) ning oltinchi shaklini 5q33-34 (LGMD2F) ga tenglashtiradi va AR LGMD ning kamida bitta kichik turi mavjudligini ko'rsatadi". Hum Mol Genet. 5 (6): 815–20. doi:10.1093 / hmg / 5.6.815. PMID 8776597.
^ Nigro V, de Sá Moreira E, Piluso G, Vaynzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M (Noyabr 1996). "LGMD2F autosomal retsessiv a'zo-kamar mushak distrofiyasi, delta-sarkoglikan genidagi mutatsiyadan kelib chiqadi". Nat Genet. 14 (2): 195–8. doi:10.1038 / ng1096-195. PMID 8841194. S2CID 25671609.
^ Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA (sentyabr 2000). "Oilaviy va sporadik kengaygan kardiyomiyopatiyada inson delta-sarkoglikan genidagi mutatsiyalar". J Clin Invest. 106 (5): 655–62. doi:10.1172 / JCI9224. PMC 381284. PMID 10974018.
^ ^a ^b "Entrez Gen: SGCD sarkoglikan, delta (35kDa distrofin bilan bog'langan glikoprotein)".
^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Ikki bosqichli DNK mikroarray strategiyasi yordamida aniqlangan yangi MITF maqsadlari". Pigment hujayralari melanomasi rez. 21 (6): 665–76. doi:10.1111 / j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.
^ Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Tompson TG, Bekman JS, Kunkel LM, Spenser MJ (oktyabr 2003). "Calpain 3 filaminni ajratadi va uning gamma va delta-sarkoglikanlar bilan ta'sir o'tkazish qobiliyatini tartibga soladi". Mushak asab. 28 (4): 472–83. doi:10.1002 / mus.10465. PMID 14506720. S2CID 86353802.
^ Tompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM (yanvar 2000). "Filamin 2 (FLN2): o'zaro ta'sir qiluvchi sarkoglikan oqsillari". J. Hujayra Biol. 148 (1): 115–26. doi:10.1083 / jcb.148.1.115. PMC 3207142. PMID 10629222.

Qo'shimcha o'qish

Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA (1997). "Sarqolmalmal 35 kDa glikoproteinni kodlovchi 5q33 da yangi sarkoglikan genini aniqlash". Hum. Mol. Genet. 5 (8): 1179–86. doi:10.1093 / hmg / 5.8.1179. PMID 8842738.
Xillier LD, Lennon G, Beker M, Bonaldo MF, Chiapelli B, Kisso S, Ditrix N, DuBuque T, Favello A, Gish V, Xokins M, Xultman M, Kukaba T, Leysi M, Le M, Le N, Mardis E , Mur B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra. M (1997). "280,000 inson tomonidan belgilangan ketma-ketlik belgilarini yaratish va tahlil qilish". Genom Res. 6 (9): 807–28. doi:10.1101 / gr.6.9.807. PMID 8889549.
Jung D, Dyuklos F, Apostol B, Straub V, Li JK, Allamand V, Venzke DP, Sunada Y, Moomaw CR, Leveille CJ, Slaughter CA, Crawford TO, McPherson JD, Campbell KP (1997). "Delta-sarkoglikanning xarakteristikasi, oyoq-kamar mushak distrofiyasida ishtirok etgan oligomerik sarkoglikan kompleksining yangi komponenti". J. Biol. Kimyoviy. 271 (50): 32321–9. doi:10.1074 / jbc.271.50.32321. PMID 8943294.
Moreira ES, Vainzof M, Mari SK, Nigro V, Zatz M, Passos-Bueno MR (1999). "Braziliya sarkoglikanopatiyalarida 2F (LGMD2F) tipidagi mushak-distrofiya turlarining og'ir fenotipi va chastotasi bilan bog'liq delta sarkoglikan genidagi birinchi misens mutatsiya". J. Med. Genet. 35 (11): 951–3. doi:10.1136 / jmg.35.11.951. PMC 1051491. PMID 9832045.
Chan YM, Bonnemann CG, Lidov HG, Kunkel LM (1999). "Sichqoncha myotubalarida sarkoglikan kompleksining molekulyar tashkiloti". J. Hujayra Biol. 143 (7): 2033–44. doi:10.1083 / jcb.143.7.2033. PMC 2175228. PMID 9864373.
Li J, Dressman D, Tsao YP, Sakamoto A, Hoffman E.P., Xiao X (1999). "oyoq-qo'l kamarining mushak distrofiyasi uchun hamster modelida rAAV vektorli sarkogilkan genini o'tkazish". Gen Ther. 6 (1): 74–82. doi:10.1038 / sj.gt.3300830. PMID 10341878.
Coral-Vazquez R, Cohn RD, Mur SA, Hill JA, Vayss RM, Davisson RL, Straub V, Barresi R, Bansal D, Xrstka RF, Uilyamson R, Kempbell KP (1999). "Qon tomir silliq mushaklardagi sarkoglikan-sarkospan kompleksining buzilishi: kardiomiopatiya va mushak distrofiyasining yangi mexanizmi". Hujayra. 98 (4): 465–74. doi:10.1016 / S0092-8674 (00) 81975-3. PMID 10481911. S2CID 376759.
Liu LA, Engvall E (2000). "Skelet mushaklaridagi sarkoglikan izoformalari". J. Biol. Kimyoviy. 274 (53): 38171–6. doi:10.1074 / jbc.274.53.38171. PMID 10608889.
Tompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM (2000). "Filamin 2 (FLN2): o'zaro ta'sir qiluvchi sarkoglikan oqsillari". J. Hujayra Biol. 148 (1): 115–26. doi:10.1083 / jcb.148.1.115. PMC 3207142. PMID 10629222.
Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman E.P. (2000). "Delta-sarkoglikan genidagi mutatsiyalar autosomal retsessiv a'zo-kamar mushak distrofiyasining kam uchraydigan sababidir (LGMD2)". Neyrogenetika. 1 (1): 49–58. doi:10.1007 / s100480050008. PMID 10735275. S2CID 22739920.
Yoshida M, Xama X, Ishikava-Sakurai M, Imamura M, Mizuno Y, Araishi K, Vakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E (2000). "Sarkoglikanopatiyani anglash uchun asos sifatida distrobrevinni sarkoglikan-sarkospan kompleksi bilan bog'lashning biokimyoviy dalillari". Hum. Mol. Genet. 9 (7): 1033–40. doi:10.1093 / hmg / 9.7.1033. PMID 10767327.
Radojevich V, Lin S, Burgunder JM (2000). "Distrofin, utrofin va distrofin bilan bog'langan oqsillarning inson mushaklari madaniyatidagi differentsial ifodasi". Hujayra to'qimalarining rez. 300 (3): 447–57. doi:10.1007 / s004410000213. PMID 10928275. S2CID 12001595.
Crosbie RH, Lim LE, Mur SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tome FM, Campbell KP (2000). "Sarkospanning molekulyar va genetik xarakteristikasi: sarkoglikan-sarkospanning o'zaro ta'siri haqidagi tushunchalar". Hum. Mol. Genet. 9 (13): 2019–27. doi:10.1093 / hmg / 9.13.2019. PMID 10942431.
Barresi R, Mur SA, Stolle CA, Mendell JR, Kempbell KP (2001). "To'g'ri mushakdagi gamma-sarkoglikanning ifodasi va uning silliq mushak sarkoglikan-sarkospan kompleksi bilan o'zaro ta'siri". J. Biol. Kimyoviy. 275 (49): 38554–60. doi:10.1074 / jbc.M007799200. PMID 10993904.
Sylvius N, Duboscq-Bidot L, Bouchier C, Charron P, Benaiche A, Sebillon P, Komajda M, Villard E (2004). "Ko'p sonli oilaviy va sporadik kengaygan kardiomiopatiya bilan og'rigan bemorlarda beta- va delta-sarkoglikan genlarining mutatsion tahlili". Am. J. Med. Genet. A. 120 (1): 8–12. doi:10.1002 / ajmg.a.20003. PMID 12794684. S2CID 84810094.
Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Tompson TG, Bekman JS, Kunkel LM, Spenser MJ (2003). "Calpain 3 filaminni ajratadi va uning gamma va delta-sarkoglikanlar bilan ta'sir o'tkazish qobiliyatini tartibga soladi". Mushak asab. 28 (4): 472–83. doi:10.1002 / mus.10465. PMID 14506720. S2CID 86353802.

Tashqi havolalar

SEVGI mutatsion ma'lumotlar bazasi: SGCD

Ushbu maqola gen kuni inson xromosomasi 5 a naycha. Siz Vikipediyaga yordam berishingiz mumkin uni kengaytirish.

[refGRCh38Ensembl-1] v GRCh38: Ensembl relizi 89: ENSG00000170624 - Ansambl, 2017 yil may

[refGRCm38Ensembl-2] v GRCm38: Ensembl relizi 89: ENSMUSG00000020354 - Ansambl, 2017 yil may

[3] "Human PubMed ma'lumotnomasi:". Milliy Biotexnologiya Axborot Markazi, AQSh Milliy Tibbiyot Kutubxonasi.

[4] "Sichqoncha PubMed ma'lumotnomasi:". Milliy Biotexnologiya Axborot Markazi, AQSh Milliy Tibbiyot Kutubxonasi.

[pmid8776597-5] Passos-Bueno MR, Moreira ES, Vaynzof M, Mari SK, Zatz M (dekabr 1996). "Avtosomal retsessiv oyoq-qo'l kamarining distrofiyasi (AR LGMD) ning oltinchi shaklini 5q33-34 (LGMD2F) ga tenglashtiradi va AR LGMD ning kamida bitta kichik turi mavjudligini ko'rsatadi". Hum Mol Genet. 5 (6): 815–20. doi:10.1093 / hmg / 5.6.815. PMID 8776597.

[pmid8841194-6] Nigro V, de Sá Moreira E, Piluso G, Vaynzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M (Noyabr 1996). "LGMD2F autosomal retsessiv a'zo-kamar mushak distrofiyasi, delta-sarkoglikan genidagi mutatsiyadan kelib chiqadi". Nat Genet. 14 (2): 195–8. doi:10.1038 / ng1096-195. PMID 8841194. S2CID 25671609.

[pmid10974018-7] Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA (sentyabr 2000). "Oilaviy va sporadik kengaygan kardiyomiyopatiyada inson delta-sarkoglikan genidagi mutatsiyalar". J Clin Invest. 106 (5): 655–62. doi:10.1172 / JCI9224. PMC 381284. PMID 10974018.

[entrez-8] "Entrez Gen: SGCD sarkoglikan, delta (35kDa distrofin bilan bog'langan glikoprotein)".

[pmid19067971-9] Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Ikki bosqichli DNK mikroarray strategiyasi yordamida aniqlangan yangi MITF maqsadlari". Pigment hujayralari melanomasi rez. 21 (6): 665–76. doi:10.1111 / j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

[pmid14506720-10] Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Tompson TG, Bekman JS, Kunkel LM, Spenser MJ (oktyabr 2003). "Calpain 3 filaminni ajratadi va uning gamma va delta-sarkoglikanlar bilan ta'sir o'tkazish qobiliyatini tartibga soladi". Mushak asab. 28 (4): 472–83. doi:10.1002 / mus.10465. PMID 14506720. S2CID 86353802.

[pmid10629222-11] Tompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM (yanvar 2000). "Filamin 2 (FLN2): o'zaro ta'sir qiluvchi sarkoglikan oqsillari". J. Hujayra Biol. 148 (1): 115–26. doi:10.1083 / jcb.148.1.115. PMC 3207142. PMID 10629222.

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