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Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_000023 Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. ORF Sequence $337.56
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RefSeq Version NM_000023.2, 208973224
Length 1441 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.
Product alpha-sarcoglycan isoform 1 precursor
Comment

Summary: This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_000014.1
CDS 37..1200
Misc Feature(1)55..1197
Misc Feature(2)55..1197
Misc Feature(3)97..429
Misc Feature(4)order(130..135,316..318,322..324,412..414,418..423)
Misc Feature(5)907..969
Exon (1)1..73
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (2)74..193
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (3)194..348
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (4)349..421
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (5)422..620
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (6)621..783
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (7)784..992
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (8)993..1019
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (9)1020..1212
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Exon (10)1213..1433
Gene:SGCA
Gene Synonym:50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Translation MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHI TYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRL VLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALD RGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQGQPPLLSCYDTLAPHF RVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLV ALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTL PMFNVHTGERLPPRVDSAQVPLILDQH
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Position Chain Variation Link
6+dbSNP:
6+c, tdbSNP:199527818
19+a, gdbSNP:115380008
29+a, gdbSNP:149296410
98+dbSNP:
98+c, tdbSNP:199804735
126+a, gdbSNP:146813280
139+a, gdbSNP:140629621
151+a, gdbSNP:145774501
191+g, tdbSNP:148132791
193+a, gdbSNP:60407644
208+dbSNP:
208+c, gdbSNP:141953249
213+c, tdbSNP:199902950
265+c, tdbSNP:28933693
328+c, tdbSNP:138945081
329+a, gdbSNP:137852621
356+dbSNP:
356+c, tdbSNP:186669379
364+c, tdbSNP:200137051
365+a, gdbSNP:145697858
385+c, tdbSNP:200075504
386+a, gdbSNP:117672945
402+a, gdbSNP:147739328
422..423+dbSNP:
422..423+, cdbSNP:144356125
444+a, cdbSNP:143551687
457+g, tdbSNP:35130237
500+g, tdbSNP:61053271
538+a, gdbSNP:199810179
554+c, tdbSNP:143962150
558+c, tdbSNP:148960833
560+c, tdbSNP:137852622
564+c, tdbSNP:1801190
587+a, gdbSNP:142169382
591+a, cdbSNP:201518390
611+a, gdbSNP:200945974
618+a, cdbSNP:199791980
679+dbSNP:
679+c, tdbSNP:76542495
689+a, gdbSNP:201116286
698+a, gdbSNP:138254713
716+c, gdbSNP:201131924
726+c, gdbSNP:139454982
735+c, tdbSNP:201860673
760+a, gdbSNP:200166783
775+a, gdbSNP:143570936
800+dbSNP:
800+c, tdbSNP:138019537
855+a, cdbSNP:35972733
879+a, cdbSNP:149487996
886+c, g, tdbSNP:137852623
930+c, gdbSNP:182535883
946+c, tdbSNP:150000524
965+a, gdbSNP:145252144
969+c, tdbSNP:1801191
1002+dbSNP:
1002+a, gdbSNP:113885623
1063+dbSNP:
1063+a, gdbSNP:201625981
1083+c, tdbSNP:199518562
1087+c, tdbSNP:143365858
1089+c, tdbSNP:148373921
1103+c, gdbSNP:141892209
1112+a, cdbSNP:146924667
1153+c, tdbSNP:137873728
1156+a, gdbSNP:35495899
1157+a, gdbSNP:150524482
1191+c, tdbSNP:183964744
1206+a, c, g, tdbSNP:2696288
1210+c, gdbSNP:60300808
1247..1248+, cdbSNP:138800403
1257+c, tdbSNP:113535280
1269+c, tdbSNP:1801192
1292+c, tdbSNP:77472740
1333+g, tdbSNP:1802614
1334+, adbSNP:201486782
1366+a, g, tdbSNP:73987439
Gene SymbolSGCA
Gene Synonym50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1
Chromosome17
Locus Map17q21
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000023 Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. Full Length $417.89
ORF Sequence $337.56
NM_001135697 Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 2, mRNA. Full Length $310.01
ORF Sequence $229.68
Title Founder mutation for alpha-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster .
Author Tetreault,M., Srour,M., Allyson,J., Thiffault,I., Loisel,L., Robitaille,Y., Bouchard,J.P. and Brais,B.
Journal Can J Neurol Sci 38 (5), 747-752 (2011)
Title Reduced glycosylation of alpha-dystroglycans on carcinoma cells contributes to formation of highly infiltrative histological patterns in prostate cancer .
Author Shimojo,H., Kobayashi,M., Kamigaito,T., Shimojo,Y., Fukuda,M. and Nakayama,J.
Journal Prostate 71 (11), 1151-1157 (2011)
Title Loss of dystroglycan function in oesophageal cancer .
Author Parberry-Clark,C., Bury,J.P., Cross,S.S. and Winder,S.J.
Journal Histopathology 59 (2), 180-187 (2011)
Title Biochemical correlation of activity of the alpha-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease .
Author Voglmeir,J., Kaloo,S., Laurent,N., Meloni,M.M., Bohlmann,L., Wilson,I.B. and Flitsch,S.L.
Journal Biochem. J. 436 (2), 447-455 (2011)
Title The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation .
Author Babameto-Laku,A., Tabaku,M., Tashko,V., Cikuli,M. and Mokini,V.
Journal Genet. Couns. 22 (4), 377-383 (2011)
Title Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency .
Author Kawai,H., Akaike,M., Endo,T., Adachi,K., Inui,T., Mitsui,T., Kashiwagi,S., Fujiwara,T., Okuno,S., Shin,S. et al.
Journal J. Clin. Invest. 96 (3), 1202-1207 (1995)
Title Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity .
Author Piccolo,F., Roberds,S.L., Jeanpierre,M., Leturcq,F., Azibi,K., Beldjord,C., Carrie,A., Recan,D., Chaouch,M., Reghis,A. et al.
Journal Nat. Genet. 10 (2), 243-245 (1995)
Title SH3 domain-mediated interaction of dystroglycan and Grb2 .
Author Yang,B., Jung,D., Motto,D., Meyer,J., Koretzky,G. and Campbell,K.P.
Journal J. Biol. Chem. 270 (20), 11711-11714 (1995)
Title Human adhalin is alternatively spliced and the gene is located on chromosome 17q21 .
Author McNally,E.M., Yoshida,M., Mizuno,Y., Ozawa,E. and Kunkel,L.M.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (21), 9690-9694 (1994)
Title Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy .
Author Roberds,S.L., Leturcq,F., Allamand,V., Piccolo,F., Jeanpierre,M., Anderson,R.D., Lim,L.E., Lee,J.C., Tome,F.M., Romero,N.B. et al.
Journal Cell 78 (4), 625-633 (1994)

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