Homo sapiens (human): 5236
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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
UDP-Glc biosynthesis, Glc => UDP-Glc
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)
09104 Nucleotide metabolism
00230 Purine metabolism
5236 (PGM1)
09107 Glycan biosynthesis and metabolism
00520 Amino sugar and nucleotide sugar 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)
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Motif
Pfam:
PGM1_C_vert_fung
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
UniProt:
P36871
Structure
PDB
PDBj
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All DBs
Position
1:63593411..63660245
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AA seq
562 aa
AA seq
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MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVG
GDGRFYMKEAIQLIARIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNP
GGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENK
FKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEE
LGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKH
GFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWK
FFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKY
GRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPV
DGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLI
SIALKVSQLQERTGRTAPTVIT
NT seq
1689 nt
NT seq
+upstream
nt +downstream
nt
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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