KEGG   Homo sapiens (human): 2992
Entry
2992              CDS       T01001                                 

Gene name
GYG1, GSD15, GYG
Definition
(RefSeq) glycogenin 1
  KO
K00750  glycogenin [EC:2.4.1.186]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00500  Starch and sucrose metabolism
hsa01100  Metabolic pathways
Module
hsa_M00854  Glycogen biosynthesis, glucose-1P => glycogen/starch
Network
nt06017  Glycogen metabolism
  Element
N00713  Glycogen biosynthesis
N00714  GBE1 deficiency in glycogen biosynthesis
N00717  GYG1 deficiency in glycogen biosynthesis
Disease
H00069  Glycogen storage disease
H01762  Muscle glycogen storage disease
H01955  Glycogen storage disease type XV
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00500 Starch and sucrose metabolism
    2992 (GYG1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    2992 (GYG1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.186  glycogenin glucosyltransferase
     2992 (GYG1)
Glycosyltransferases [BR:hsa01003]
 Polysaccharide
  Storage polysaccharide
   2992 (GYG1)
SSDB
Motif
Pfam: Glyco_transf_8 Mannosyl_trans3
Other DBs
NCBI-GeneID: 2992
NCBI-ProteinID: NP_004121
OMIM: 603942
HGNC: 4699
Ensembl: ENSG00000163754
Vega: OTTHUMG00000159533
Pharos: P46976(Tbio)
UniProt: P46976
Structure
PDB: 

Position
3q24
AA seq 350 aa
MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIM
VDVLDSGDSAHLTLMKRPELGVTLTKLHCWSLTQYSKCVFMDADTLVLANIDDLFDREEL
SAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIR
KHLPFIYNLSSISIYSYLPAFKVFGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNM
THPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVLSDLVYTLAFSCGFCRKEDVSGAI
SHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ
NT seq 1053 nt   +upstreamnt  +downstreamnt
atgacagatcaggcctttgtgacactaaccacaaacgatgcctacgccaaaggtgccctg
gtcctgggatcatctctgaaacagcacaggaccaccaggaggctggtcgtgctcgccacc
cctcaggtctcagactccatgagaaaagttttagagacagtctttgatgaagtcatcatg
gtagatgtcttggacagtggcgattctgctcatctaaccttaatgaagaggccagagttg
ggtgtcacgctgacaaagctccactgctggtcgcttacacagtattcaaaatgtgtattc
atggatgcagatactctggtcctagcaaatattgatgatctttttgacagagaagaattg
tcagcagcaccagacccagggtggcctgactgcttcaattccggagtcttcgtttatcag
ccttcagttgaaacatacaatcagctgttgcatcttgcttctgagcaaggtagttttgat
ggtggggaccaaggcatactgaacacattttttagcagctgggcaacaacagatatcaga
aaacacctgccgtttatttataacctaagcagcatctctatatactcctacctcccggca
tttaaagtgtttggtgcaagtgccaaagttgtgcatttcctgggacgagtcaaaccatgg
aattatacttatgatcccaaaacaaaaagtgtcaaaagtgaggcccatgatcccaacatg
actcatccagagtttctcatcctgtggtggaacatctttaccaccaacgttttacctctg
cttcaacaatttggccttgtcaaagacacctgctcatatgtaaatgtgctttcagacttg
gtctatacactggctttctcttgtggcttctgtagaaaggaagatgtctcaggagccata
tcacatctgtcccttggggagatcccagctatggcacagccgtttgtatcctcggaagaa
cggaaggaacgatgggaacagggccaggctgattatatgggagcagattcctttgacaac
atcaagaggaaacttgacacttacctccagtag

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