Property Summary

NCBI Gene PubMed Count 37
Grant Count 39
R01 Count 23
Funding $3,691,802.45
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 0.031
psoriasis -1.800 0.000
non-small cell lung cancer -1.200 0.000
lung adenocarcinoma -1.900 0.000

 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.
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AA Sequence

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