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MGP001384

Record overview

MGPD IDMGP001384
Gene ID2992
SpeciesHomo sapiens (Human)
Gene Nameglycogenin 1
Gene Symbol GYG1
SynonymsGYG; GSD15;
Alternate namesglycogenin-1; GN-1; glycogenin glucosyltransferase;
Chromosome3
Map Location3q24-q25.1
EC Number2.4.1.186;
SummaryThis gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
OrthologsView orthologs and multiple alignments for GYG1

Proteins

glycogenin-1 isoform 1
Refseq ID:NP_004121
Protein GI:20127457
UniProt ID:P46976
mRNA ID:NM_004130
Length:350
RefSeq Status:
MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLMKRPELGVTLTKLHCWSLTQYSKCVF
MDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPA
FKVFGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVLSDLVYTLAFSCGFCRKEDVSGAI
SHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ
 
glycogenin-1 isoform 2
Refseq ID:NP_001171649
Protein GI:296040505
UniProt ID:P46976
mRNA ID:NM_001184720
Length:333
RefSeq Status:
MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLMKRPELGVTLTKLHCWSLTQYSKCVF
MDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPA
FKVFGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVEDVSGAISHLSLGEIPAMAQPFVS
SEERKERWEQGQADYMGADSFDNIKRKLDTYLQ
 
glycogenin-1 isoform 3
Refseq ID:NP_001171650
Protein GI:296040507
UniProt ID:P46976
mRNA ID:NM_001184721
Length:279
RefSeq Status:
MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLMKRPELGVTLTKLHCWSLTQYSKCVF
MDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPA
FKVKMSQEPYHICPLGRSQLWHSRLYPRKNGRNDGNRARLIIWEQIPLTTSRGNLTLTSSRNTAFFCEHIHFTSLVSDT
 
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