KEGG   Homo sapiens (human): 5236Help
Entry
5236              CDS       T01001                                 

Gene name
PGM1, CDG1T, GSD14
Definition
(RefSeq) phosphoglucomutase 1
  KO
K01835  phosphoglucomutase [EC:5.4.2.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00030  Pentose phosphate pathway
hsa00052  Galactose metabolism
hsa00230  Purine metabolism
hsa00500  Starch and sucrose metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa01100  Metabolic pathways
Module
hsa_M00549  Nucleotide sugar biosynthesis, glucose => UDP-glucose
hsa_M00855  Glycogen degradation, glycogen => glucose-6P
Network
nt06015  N-Glycan biosynthesis
nt06017  Glycogen metabolism
  Element
N00673  N-Glycan precursor biosynthesis, Glc-6P to UDP-Glu
N00674  PGM1 deficiency in N-glycan precursor biosynthesis
N00718  Glycogen degradation
N00719  G6PC deficiency in glycogen degradation
Disease
H00069  Glycogen storage disease
H00118  Congenital disorders of glycosylation type I
H01762  Muscle glycogen storage disease
H01954  Glycogen storage disease type XIV
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00010 Glycolysis / Gluconeogenesis
    5236 (PGM1)
   00030 Pentose phosphate pathway
    5236 (PGM1)
   00052 Galactose metabolism
    5236 (PGM1)
   00500 Starch and sucrose metabolism
    5236 (PGM1)
   00520 Amino sugar and nucleotide sugar metabolism
    5236 (PGM1)
  09104 Nucleotide metabolism
   00230 Purine metabolism
    5236 (PGM1)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.4  Intramolecular transferases
   5.4.2  Phosphotransferases (phosphomutases)
    5.4.2.2  phosphoglucomutase (alpha-D-glucose-1,6-bisphosphate-dependent)
     5236 (PGM1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PGM_PMM_I PGM_PMM_III PGM_PMM_II PGM_PMM_IV
Motif
Other DBs
NCBI-GeneID: 5236
NCBI-ProteinID: NP_002624
OMIM: 171900
HGNC: 8905
Ensembl: ENSG00000079739
Vega: OTTHUMG00000008968
Pharos: P36871(Tbio)
UniProt: P36871
LinkDB All DBs
Structure
PDB: 

Position
1p31.3
AA seq 562 aa AA seqDB search
MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVG
GDGRFYMKEAIQLIARIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNP
GGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENK
FKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEE
LGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKH
GFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWK
FFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKY
GRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPV
DGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLI
SIALKVSQLQERTGRTAPTVIT
NT seq 1689 nt NT seq  +upstreamnt  +downstreamnt
atggtgaagatcgtgacagttaagacccaggcgtaccaggaccagaagccgggcacgagc
gggctgcggaagcgggtgaaggtgttccagagcagcgccaactacgcggagaacttcatc
cagagtatcatctccaccgtggagccggcgcagcggcaggaggccacgctggtggtgggc
ggggacggccggttctacatgaaggaggccatccagctcatcgctcgcatcgctgccgcc
aacgggatcggtcgcttggttatcggacagaatggaatcctctccacccctgctgtatcc
tgcatcattagaaaaatcaaagccattggtgggatcattctgacagccagtcacaaccca
gggggccccaatggagattttggaatcaaattcaatatttctaatggaggtcctgctcca
gaagcaataactgataaaattttccaaatcagcaagacaattgaagaatatgcagtttgc
cctgacctgaaagtagaccttggtgttctgggaaagcagcagtttgacttggaaaataag
ttcaaacccttcacagtggaaattgtggattcggtagaagcttatgctacaatgctgaga
agcatctttgatttcagtgcactgaaagaactactttctgggccaaaccgactgaagatc
cgtattgatgctatgcatggagttgtgggaccgtatgtaaagaagatcctctgtgaagaa
ctcggtgcccctgcgaactcggcagttaactgcgttcctctggaggactttggaggccac
caccctgaccccaacctcacctatgcagctgacctggtggagaccatgaagtcaggagag
catgattttggggctgcctttgatggagatggggatcgaaacatgattctgggcaagcat
gggttctttgtgaacccttcagactctgtggctgtcattgctgccaacatcttcagcatt
ccgtatttccagcagactggggtccgcggctttgcacggagcatgcccacgagtggtgct
ctggaccgggtggctagtgctacaaagattgctttgtatgagaccccaactggctggaag
ttttttgggaatttgatggacgcgagcaaactgtccctttgtggggaggagagcttcggg
accggttctgaccacatccgtgagaaagatggactgtgggctgtccttgcctggctctcc
atcctagccacccgcaagcagagtgtggaggacattctcaaagatcattggcaaaagtat
ggccggaatttcttcaccaggtatgattacgaggaggtggaagctgagggcgcaaacaaa
atgatgaaggacttggaggccctgatgtttgatcgctcctttgtggggaagcagttctca
gcaaatgacaaagtttacactgtggagaaggccgataactttgaatacagcgacccagtg
gatggaagcatttcaagaaatcagggcttgcgcctcattttcacagatggttctcgaatc
gtcttccgactgagcggcactgggagtgccggggccaccattcggctgtacatcgatagc
tatgagaaggacgttgccaagattaaccaggacccccaggtcatgttggccccccttatt
tccattgctctgaaagtgtcccagctgcaggagaggacgggacgcactgcacccactgtc
atcacctaa

KEGG   Homo sapiens (human): 55276Help
Entry
55276             CDS       T01001                                 

Gene name
PGM2, MSTP006
Definition
(RefSeq) phosphoglucomutase 2
  KO
K15779  phosphoglucomutase / phosphopentomutase [EC:5.4.2.2 5.4.2.7]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00030  Pentose phosphate pathway
hsa00052  Galactose metabolism
hsa00230  Purine metabolism
hsa00500  Starch and sucrose metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa01100  Metabolic pathways
Module
hsa_M00855  Glycogen degradation, glycogen => glucose-6P
Network
nt06015  N-Glycan biosynthesis
nt06017  Glycogen metabolism
  Element
N00673  N-Glycan precursor biosynthesis, Glc-6P to UDP-Glu
N00718  Glycogen degradation
N00719  G6PC deficiency in glycogen degradation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00010 Glycolysis / Gluconeogenesis
    55276 (PGM2)
   00030 Pentose phosphate pathway
    55276 (PGM2)
   00052 Galactose metabolism
    55276 (PGM2)
   00500 Starch and sucrose metabolism
    55276 (PGM2)
   00520 Amino sugar and nucleotide sugar metabolism
    55276 (PGM2)
  09104 Nucleotide metabolism
   00230 Purine metabolism
    55276 (PGM2)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.4  Intramolecular transferases
   5.4.2  Phosphotransferases (phosphomutases)
    5.4.2.2  phosphoglucomutase (alpha-D-glucose-1,6-bisphosphate-dependent)
     55276 (PGM2)
    5.4.2.7  phosphopentomutase
     55276 (PGM2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PGM_PMM_I PGM_PMM_II PGM_PMM_III PGM_PMM_IV
Motif
Other DBs
NCBI-GeneID: 55276
NCBI-ProteinID: NP_060760
OMIM: 172000
HGNC: 8906
Ensembl: ENSG00000169299
Vega: OTTHUMG00000097813
Pharos: Q96G03(Tbio)
UniProt: Q96G03
LinkDB All DBs
Position
4p14
AA seq 612 aa AA seqDB search
MAAPEGSGLGEDARLDQETAQWLRWDKNSLTLEAVKRLIAEGNKEELRKCFGARMEFGTA
GLRAAMGPGISRMNDLTIIQTTQGFCRYLEKQFSDLKQKGIVISFDARAHPSSGGSSRRF
ARLAATTFISQGIPVYLFSDITPTPFVPFTVSHLKLCAGIMITASHNPKQDNGYKVYWDN
GAQIISPHDKGISQAIEENLEPWPQAWDDSLIDSSPLLHNPSASINNDYFEDLKKYCFHR
SVNRETKVKFVHTSVHGVGHSFVQSAFKAFDLVPPEAVPEQKDPDPEFPTVKYPNPEEGK
GVLTLSFALADKTKARIVLANDPDADRLAVAEKQDSGEWRVFSGNELGALLGWWLFTSWK
EKNQDRSALKDTYMLSSTVSSKILRAIALKEGFHFEETLTGFKWMGNRAKQLIDQGKTVL
FAFEEAIGYMCCPFVLDKDGVSAAVISAELASFLATKNLSLSQQLKAIYVEYGYHITKAS
YFICHDQETIKKLFENLRNYDGKNNYPKACGKFEISAIRDLTTGYDDSQPDKKAVLPTSK
SSQMITFTFANGGVATMRTSGTEPKIKYYAELCAPPGNSDPEQLKKELNELVSAIEEHFF
QPQKYNLQPKAD
NT seq 1839 nt NT seq  +upstreamnt  +downstreamnt
atggcggctccagaaggcagcggtctaggcgaggacgcccggctggaccaggagaccgcc
cagtggctgcgctgggacaagaattccttaactttggaggcagtgaaacgactaatagca
gaaggtaataaagaagaactacgaaaatgttttggggcccgaatggagtttgggacagct
ggcctccgagctgctatgggacctggaatttctcgtatgaatgacttgaccatcatccag
actacacagggattttgcagatacctggaaaaacaattcagtgacttaaagcagaaaggc
atcgtgatcagttttgacgcccgagctcatccatccagtgggggtagcagcagaaggttt
gcccgacttgctgcaaccacatttatcagtcaggggattcctgtgtacctcttttctgat
ataacgccaaccccctttgtgcccttcacagtatcacatttgaaactttgtgctggaatc
atgataactgcatctcacaatccaaagcaggataatggttataaggtctattgggataat
ggagctcagatcatttctcctcacgataaagggatttctcaagctattgaagaaaatcta
gaaccgtggcctcaagcttgggacgattctttaattgatagcagtccacttctccacaat
ccgagtgcttccatcaataatgactactttgaagaccttaaaaagtactgtttccacagg
agcgtgaacagggagacaaaggtgaagtttgtgcacacctctgtccatggggtgggtcat
agctttgtgcagtcagctttcaaggcttttgaccttgttcctcctgaggctgttcctgaa
cagaaagatccggatcctgagtttccaacagtgaaatacccgaatcccgaagaggggaaa
ggtgtcttgactttgtcttttgctttggctgacaaaaccaaggccagaattgttttagct
aacgacccggatgctgatagacttgctgtggcagaaaagcaagacagtggtgaatggagg
gtgttttcaggcaatgagttgggggccctcctgggctggtggctttttacatcttggaaa
gagaagaaccaggatcgcagtgctctcaaagacacgtacatgttgtccagcaccgtctcc
tccaaaatcttgcgggccattgccttaaaggaaggttttcattttgaggaaacattaact
ggctttaagtggatgggaaacagagccaaacagctaatagaccaggggaaaactgtttta
tttgcatttgaagaagctattggatacatgtgctgcccttttgttctggacaaagatgga
gtcagtgccgctgtcataagtgcagagttggctagcttcctagcaaccaagaatttgtct
ttgtctcagcaactaaaggccatttatgtggagtatggctaccatattactaaagcttcc
tattttatctgccatgatcaagaaaccattaagaaattatttgaaaacctcagaaactac
gatggaaaaaataattatccaaaagcttgtggcaaatttgaaatttctgccattagggac
cttacaactggctatgatgatagccaacctgataaaaaagctgttcttcccactagtaaa
agcagccaaatgatcaccttcacctttgctaatggaggcgtggccaccatgcgcaccagt
gggacagagcccaaaatcaagtactatgcagagctgtgtgccccacctgggaacagtgat
cctgagcagctgaagaaggaactgaatgaactggtcagtgctattgaagaacattttttc
cagccacagaagtacaatctgcagccaaaagcagactaa

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