KEGG   Homo sapiens (human): 5236
Entry
5236              CDS       T01001                                 
Symbol
PGM1, CDG1T, GSD14
Name
(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
hsa01250  Biosynthesis of nucleotide sugars
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
N00718  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)
SSDB
Motif
Pfam: PGM_PMM_I PGM_PMM_III PGM_PMM_II
Other DBs
NCBI-GeneID: 5236
NCBI-ProteinID: NP_002624
OMIM: 171900
HGNC: 8905
Ensembl: ENSG00000079739
UniProt: P36871
Structure
Position
1:63593411..63660245
AA seq 562 aa
MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVG
GDGRFYMKEAIQLIARIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNP
GGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENK
FKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEE
LGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKH
GFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWK
FFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKY
GRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPV
DGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLI
SIALKVSQLQERTGRTAPTVIT
NT seq 1689 nt   +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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (10)   
   KEGG PATHWAY (8)   
   KEGG MODULE (2)   
Network (4)   
   KEGG NETWORK (4)   
Disease (6)   
   KEGG DISEASE (4)   
   OMIM (2)   
Chemical substance (5)   
   KEGG COMPOUND (5)   
Chemical reaction (4)   
   KEGG ENZYME (1)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (25)   
   RefSeq(nuc) (3)   
   GenBank (11)   
   EMBL (11)   
3D Structure (16)   
   PDB (16)   
Protein domain (3)   
   Pfam (3)   
All databases (93)   

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