Property Summary

NCBI Gene PubMed Count 37
PubMed Score 191.59
PubTator Score 196.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
cutaneous lupus erythematosus -1.300 3.1e-02
psoriasis -1.800 3.5e-39
non-small cell lung cancer -1.200 3.3e-19
lung adenocarcinoma -1.900 4.3e-09

 GO Function (1)

Gene RIF (14)

PMID Text
25279697 B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan.
24565866 Results show that HRD1 and RFP2 contributes are required for the disposal of V247M alpha-sarcoglycan mutant.
23703062 2 members of a Spanish family with muscular dystrophy had a new missense mutation c409G>A, p.Glu137Lys in exon 5 of the alpha-sarcoglycan gene, as well as a paternal c739G>A, p.Val24Met mutation inexon 6.
22303798 DNA analysis demonstrated homozygosity for a point mutation (574C>T) in the alpha-sarcoglycan gene.
21884196 E-cadherin,alpha-dystroglycan and beta-dystroglycan levels were decreased in the oesophageal primary tumour samples, despite the presence of normal levels of dystroglycan mRNA.
21856579 This study reported recessive founder LGMD2D for the Magdalen Islands, an archipelago settled in the XIXth century, largely by Acadian immigrants.
21656825 Reduced expression of laminin-binding glycans on alpha-DG may contribute to formation of highly infiltrative behavior of prostate carcinoma cells.
21361872 Peptide sequences in alpha-DG are substrates for protein-O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1), demonstrated when a library of mannopeptides is generated which corresponds to sequences of the mucin-like stem region of alpha-DG.
21031578 Long-term, sustainable gene expression of alpha-sarcoglycan was observed following gene transfer mediated by AAV.
20019182 Absence of members of the dystrophin-associated glycoprotein complex constitutes a permissive environment for spontaneous development of embryonal rhabdomyosarcoma associated with mutation of p53 and mutation or altered splicing of Mdm2.
18996010 The limb-girdle muscular dystrophy patients with alpha-sarcoglycan deficient LGMD2D do not enable an accurate prediction of the genotype.
18078839 identified a negative regulatory element in the alpha-SG distal promoter including two conserved E-boxes (E1 and E2), which interact with MyoD
16883602 Biglycan is a ligand for two members of the sarcoglycan complex and regulates their expression at discrete developmental ages.
15298081 Two adult brothers with a mild form of LGMD2D, compound heterozygous for two missense mutations of the SGCA gene (Arg77Cys, Val247Met), presented with respiratory insufficiency while they were still ambulatory.

AA Sequence

MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHITYHAHLQGHP      1 - 70
DLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRLVLEIGDPEGPLLPYQAEFLV     71 - 140
RSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALDRGGRVPLPIEGRKEGVYIKVGSASPFSTCL    141 - 210
KMVASPDSHARCAQGQPPLLSCYDTLAPHFRVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTE    211 - 280
APDRDFLVDALVTLLVPLLVALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAAS    281 - 350
REVPRPLSTLPMFNVHTGERLPPRVDSAQVPLILDQH                                     351 - 387
//

Text Mined References (38)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25416956 2014 A proteome-scale map of the human interactome network.
25279697 2014 B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of ?-dystroglycan.
24565866 2014 Unveiling the degradative route of the V247M ?-sarcoglycan mutant responsible for LGMD-2D.
23703062 2013 [A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy].
22303798 2011 The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.
21884196 2011 Loss of dystroglycan function in oesophageal cancer.
21856579 2011 Founder mutation for ?-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster.
21656825 2011 Reduced glycosylation of ?-dystroglycans on carcinoma cells contributes to formation of highly infiltrative histological patterns in prostate cancer.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21361872 2011 Biochemical correlation of activity of the ?-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
21031578 2010 Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
20019182 2010 Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts.
18996010 2008 Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
18078839 2008 Identification of two E-boxes that negatively modulate the activity of MyoD on the alpha-sarcoglycan core promoter.
16883602 2006 Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15954112 2005 Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15298081 2004 Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11747090 2001 Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy.
10993904 2000 Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex.
10767327 2000 Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy.
10684260 2000 The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle.
9864373 1998 Molecular organization of sarcoglycan complex in mouse myotubes in culture.
9585331 1998 Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.
9192266 1997 Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
9032047 1997 Mutations in the sarcoglycan genes in patients with myopathy.
8681137 1996 Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization.
8528203 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.
8226900 1993 Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin).
8069911 1994 Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
7937874 1994 Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
7744812 1995 SH3 domain-mediated interaction of dystroglycan and Grb2.
7663524 1995 Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
7657792 1995 Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.