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
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
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

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