SGCA

SGCA
식별자
별칭	SGCA, 50-DAG, A2, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, Adhalin, 50DAG, Sarvoglycan alpha, LGMDR3
외부 ID	OMIM: 600119 MGI: 894698 HomoloGene: 9 GeneCard: SGCA
유전자 위치(인간)
쳇.	17번 염색체(인간)
끝	50,190,928 bp
유전자 위치(마우스)
쳇.	11번 염색체(쥐)
끝	94,976,327 bp
RNA 표현 패턴
	표현된 상단
	위두근; ; 다리 근육; ; 좌심실; ; 상승 대동맥; ; 흉부 대동맥; ; 오른쪽 관상동맥;
	추가 참조 표현식 데이터
	n/a
유전자 온톨로지
분자함수	칼슘 이온 결합; GO:0001948 단백질 결합;
셀룰러 컴포넌트	세포질; 막의 적분 성분; 막 뗏목; 디스트로글리칸 콤플렉스; 사르코일레마; 플라즈마 막; 다이스트로핀-배당당당단백질 복합체; 시토스켈레톤; 막으로 막다; 세포-세포 접합; 석관 복합체;
생물학적 과정	근육 기관 발달; 근육 수축; 막 조직; 근육 적응 조절에 관련된 보호에 대한 반응; 골격근조직 재생;
	출처:아미고 / 퀵고
직교체
	6442
	20391
	ENSG00000108823
	ENSMUSG00000001508
	Q16586
	P82350
	NM_000023; NM_001135697
	NM_009161
	NP_000014; NP_001129169
	NP_033187
	위키다타
인간 보기/편집	마우스 보기/편집

알파-사르코글리칸은 인간에게 SGCA 유전자에 의해 암호화된 단백질이다.^[5]^[6]

함수

DGC(Dystrophin-glycoprotein complex)는 근육 섬유막의 안정성과 액틴 세포골격과 세포외 기질과의 연결에 중요한 단백질 그룹으로 구성된다. Components of the DGC include dystrophin (MIM 300377), which is deficient in Duchenne muscular dystrophy (DMD; MIM 310200); syntrophins (e.g., MIM 600026); dystroglycans (MIM 128239); and sarcoglycans, such as adhalin, a 50-kD transmembrane protein (Roberds et al., 1993).[OMIM에 의해 제공]^[6]

상호작용

SGCA는 Biglycan과 상호작용을 하는 것으로 밝혀졌다.^[7]

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000108823 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG00000001508 - 앙상블, 2017년 5월
^ "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.
^ McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM (Oct 1994). "Human adhalin is alternatively spliced and the gene is located on chromosome 17q21". Proceedings of the National Academy of Sciences of the United States of America. 91 (21): 9690–4. Bibcode:1994PNAS...91.9690M. doi:10.1073/pnas.91.21.9690. PMC 44882. PMID 7937874.
^ ^a ^b "Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)".
^ Bowe MA, Mendis DB, Fallon JR (Feb 2000). "The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle". The Journal of Cell Biology. 148 (4): 801–10. doi:10.1083/jcb.148.4.801. PMC 2169361. PMID 10684260.

추가 읽기

Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S, Shin S (Sep 1995). "Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency". The Journal of Clinical Investigation. 96 (3): 1202–7. doi:10.1172/JCI118152. PMC 185739. PMID 7657792.
Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrié A, Récan D, Chaouch M, Reghis A (Jun 1995). "Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity". Nature Genetics. 10 (2): 243–5. doi:10.1038/ng0695-243. PMID 7663524. S2CID 24181208.
Yang B, Jung D, Motto D, Meyer J, Koretzky G, Campbell KP (May 1995). "SH3 domain-mediated interaction of dystroglycan and Grb2". The Journal of Biological Chemistry. 270 (20): 11711–4. doi:10.1074/jbc.270.20.11711. PMID 7744812.
Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FM, Romero NB (Aug 1994). "Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy". Cell. 78 (4): 625–33. doi:10.1016/0092-8674(94)90527-4. PMID 8069911. S2CID 34496266.
Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP (Nov 1993). "Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)". The Journal of Biological Chemistry. 268 (32): 23739–42. doi:10.1016/S0021-9258(20)80440-2. PMID 8226900.
Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M (Jul 1995). "A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy". Human Molecular Genetics. 4 (7): 1163–7. doi:10.1093/hmg/4.7.1163. PMID 8528203.
Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C (Feb 1997). "Mutations in the sarcoglycan genes in patients with myopathy". The New England Journal of Medicine. 336 (9): 618–24. doi:10.1056/NEJM199702273360904. PMID 9032047.
Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tomé FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M (Jun 1997). "Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)". Journal of Medical Genetics. 34 (6): 470–5. doi:10.1136/jmg.34.6.470. PMC 1050969. PMID 9192266.
Angelini C, Fanin M, Menegazzo E, Freda MP, Duggan DJ, Hoffman EP (Jun 1998). "Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient". Muscle & Nerve. 21 (6): 769–75. doi:10.1002/(SICI)1097-4598(199806)21:6<769::AID-MUS9>3.0.CO;2-5. PMID 9585331.
Chan YM, Bönnemann CG, Lidov HG, Kunkel LM (Dec 1998). "Molecular organization of sarcoglycan complex in mouse myotubes in culture". The Journal of Cell Biology. 143 (7): 2033–44. doi:10.1083/jcb.143.7.2033. PMC 2175228. PMID 9864373.
Bowe MA, Mendis DB, Fallon JR (Feb 2000). "The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle". The Journal of Cell Biology. 148 (4): 801–10. doi:10.1083/jcb.148.4.801. PMC 2169361. PMID 10684260.
Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E (Apr 2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Human Molecular Genetics. 9 (7): 1033–40. doi:10.1093/hmg/9.7.1033. PMID 10767327.
Barresi R, Moore SA, Stolle CA, Mendell JR, Campbell KP (Dec 2000). "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex". The Journal of Biological Chemistry. 275 (49): 38554–60. doi:10.1074/jbc.M007799200. PMID 10993904.
Wakayama Y, Inoue M, Kojima H, Murahashi M, Shibuya S, Oniki H (Nov 2001). "Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy". Microscopy Research and Technique. 55 (3): 154–63. doi:10.1002/jemt.1166. PMID 11747090. S2CID 22683866.
Walter MC, Dekomien G, Schlotter-Weigel B, Reilich P, Pongratz D, Müller-Felber W, Epplen JT, Huebner A, Lochmüller H (May 2004). "Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood". Acta Myologica. 23 (1): 1–5. PMID 15298081.
White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT (Jul 2005). "Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis". Human Mutation. 26 (1): 59. doi:10.1002/humu.9347. PMID 15954112. S2CID 19502163.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

외부 링크

LOVD 돌연변이 데이터베이스: SGCA

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000108823 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG00000001508 - 앙상블, 2017년 5월

[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.

[pmid7937874-5] McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM (Oct 1994). "Human adhalin is alternatively spliced and the gene is located on chromosome 17q21". Proceedings of the National Academy of Sciences of the United States of America. 91 (21): 9690–4. Bibcode:1994PNAS...91.9690M. doi:10.1073/pnas.91.21.9690. PMC 44882. PMID 7937874.

[entrez-6] "Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)".

[pmid10684260-7] Bowe MA, Mendis DB, Fallon JR (Feb 2000). "The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle". The Journal of Cell Biology. 148 (4): 801–10. doi:10.1083/jcb.148.4.801. PMC 2169361. PMID 10684260.

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SGCA

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