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| <!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
| | __NOTOC__ |
| {{PBB_Controls | | {{CMG}}<br><br> |
| | update_page = yes
| | What are you looking for?<br><br> |
| | require_manual_inspection = no
| | *[[Sarcoglycan alpha]], a dystrophin-associated glycoprotein whose deficiency is involved in the pathogenesis of [[Duchenne muscular dystrophy]] |
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| | *[[Subependymal giant cell astrocytoma]], a benign brain tumor |
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| <!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | |
| {{GNF_Protein_box
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| | image =
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| | image_source =
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| | PDB =
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| | Name = Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
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| | HGNCid = 10805
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| | Symbol = SGCA
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| | AltSymbols =; A2; 50-DAG; ADL; DAG2; DMDA2; LGMD2D; SCARMD1; adhalin
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| | OMIM = 600119
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| | ECnumber =
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| | Homologene = 9
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| | MGIid = 894698
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| | Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
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| | Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0016010 |text = dystrophin-associated glycoprotein complex}} {{GNF_GO|id=GO:0016012 |text = sarcoglycan complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
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| | Process = {{GNF_GO|id=GO:0006936 |text = muscle contraction}} {{GNF_GO|id=GO:0007517 |text = muscle development}}
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| | Orthologs = {{GNF_Ortholog_box
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| | Hs_EntrezGene = 6442
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| | Hs_Ensembl = ENSG00000108823
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| | Hs_RefseqProtein = NP_000014
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| | Hs_RefseqmRNA = NM_000023
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| | Hs_GenLoc_db =
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| | Hs_GenLoc_chr = 17
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| | Hs_GenLoc_start = 45598401
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| | Hs_GenLoc_end = 45608291
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| | Hs_Uniprot = Q16586
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| | Mm_EntrezGene = 20391
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| | Mm_Ensembl = ENSMUSG00000001508
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| | Mm_RefseqmRNA = NM_009161
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| | Mm_RefseqProtein = NP_033187
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| | Mm_GenLoc_db =
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| | Mm_GenLoc_chr = 11
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| | Mm_GenLoc_start = 94778881
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| | Mm_GenLoc_end = 94792417
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| | Mm_Uniprot = Q5SWB0
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| }}
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| }}
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| '''Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)''', also known as '''SGCA''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6442| accessdate = }}</ref>
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| <!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | |
| {{PBB_Summary
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| | section_title =
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| | summary_text = The dystrophin-glycoprotein complex (DGC) comprises a group of proteins that are critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. 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).[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6442| accessdate = }}</ref>
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| ==References==
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| {{reflist|2}}
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| ==Further reading==
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| {{refbegin | 2}}
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| {{PBB_Further_reading
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| | citations =
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| *{{cite journal | author=Kawai H, Akaike M, Endo T, ''et al.'' |title=Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. |journal=J. Clin. Invest. |volume=96 |issue= 3 |pages= 1202-7 |year= 1995 |pmid= 7657792 |doi= }}
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| *{{cite journal | author=Piccolo F, Roberds SL, Jeanpierre M, ''et al.'' |title=Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. |journal=Nat. Genet. |volume=10 |issue= 2 |pages= 243-5 |year= 1995 |pmid= 7663524 |doi= 10.1038/ng0695-243 }}
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| *{{cite journal | author=Yang B, Jung D, Motto D, ''et al.'' |title=SH3 domain-mediated interaction of dystroglycan and Grb2. |journal=J. Biol. Chem. |volume=270 |issue= 20 |pages= 11711-4 |year= 1995 |pmid= 7744812 |doi= }}
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| *{{cite journal | author=McNally EM, Yoshida M, Mizuno Y, ''et al.'' |title=Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 21 |pages= 9690-4 |year= 1994 |pmid= 7937874 |doi= }}
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| *{{cite journal | author=Roberds SL, Leturcq F, Allamand V, ''et al.'' |title=Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. |journal=Cell |volume=78 |issue= 4 |pages= 625-33 |year= 1994 |pmid= 8069911 |doi= }}
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| *{{cite journal | author=Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP |title=Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). |journal=J. Biol. Chem. |volume=268 |issue= 32 |pages= 23739-42 |year= 1993 |pmid= 8226900 |doi= }}
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| *{{cite journal | author=Bueno MR, Moreira ES, Vainzof M, ''et al.'' |title=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. |journal=Hum. Mol. Genet. |volume=4 |issue= 7 |pages= 1163-7 |year= 1996 |pmid= 8528203 |doi= }}
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| *{{cite journal | author=Duggan DJ, Gorospe JR, Fanin M, ''et al.'' |title=Mutations in the sarcoglycan genes in patients with myopathy. |journal=N. Engl. J. Med. |volume=336 |issue= 9 |pages= 618-24 |year= 1997 |pmid= 9032047 |doi= }}
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| *{{cite journal | author=Carrié A, Piccolo F, Leturcq F, ''et al.'' |title=Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). |journal=J. Med. Genet. |volume=34 |issue= 6 |pages= 470-5 |year= 1997 |pmid= 9192266 |doi= }} | |
| *{{cite journal | author=Angelini C, Fanin M, Menegazzo E, ''et al.'' |title=Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. |journal=Muscle Nerve |volume=21 |issue= 6 |pages= 769-75 |year= 1998 |pmid= 9585331 |doi= }}
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| *{{cite journal | author=Chan YM, Bönnemann CG, Lidov HG, Kunkel LM |title=Molecular organization of sarcoglycan complex in mouse myotubes in culture. |journal=J. Cell Biol. |volume=143 |issue= 7 |pages= 2033-44 |year= 1999 |pmid= 9864373 |doi= }}
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| *{{cite journal | author=Bowe MA, Mendis DB, Fallon JR |title=The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle. |journal=J. Cell Biol. |volume=148 |issue= 4 |pages= 801-10 |year= 2000 |pmid= 10684260 |doi= }}
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| *{{cite journal | author=Yoshida M, Hama H, Ishikawa-Sakurai M, ''et al.'' |title=Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. |journal=Hum. Mol. Genet. |volume=9 |issue= 7 |pages= 1033-40 |year= 2000 |pmid= 10767327 |doi= }}
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| *{{cite journal | author=Barresi R, Moore SA, Stolle CA, ''et al.'' |title=Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38554-60 |year= 2001 |pmid= 10993904 |doi= 10.1074/jbc.M007799200 }}
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| *{{cite journal | author=Wakayama Y, Inoue M, Kojima H, ''et al.'' |title=Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy. |journal=Microsc. Res. Tech. |volume=55 |issue= 3 |pages= 154-63 |year= 2002 |pmid= 11747090 |doi= 10.1002/jemt.1166 }}
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| *{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
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| *{{cite journal | author=Walter MC, Dekomien G, Schlotter-Weigel B, ''et al.'' |title=Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. |journal=Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases |volume=23 |issue= 1 |pages= 1-5 |year= 2004 |pmid= 15298081 |doi= }}
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| *{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
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| *{{cite journal | author=White SJ, Uitte de Willige S, Verbove D, ''et al.'' |title=Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. |journal=Hum. Mutat. |volume=26 |issue= 1 |pages= 59 |year= 2006 |pmid= 15954112 |doi= 10.1002/humu.9347 }}
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| *{{cite journal | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
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