KEGG   Homo sapiens (human): 5373
Entry
5373              CDS       T01001                                 

Gene name
PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM_2
Definition
(RefSeq) phosphomannomutase 2
  KO
K17497  phosphomannomutase [EC:5.4.2.8]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00051  Fructose and mannose metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Network
nt06015  N-Glycan biosynthesis
  Element
N00667  N-Glycan precursor biosynthesis, Glc-6P to Man-P-Dol
N00668  DPM1 deficiency in N-glycan precursor biosynthesis
N00669  DPM2 deficiency in N-glycan precursor biosynthesis
N00670  DPM3 deficiency in N-glycan precursor biosynthesis
N00671  PMM2 deficiency in N-glycan precursor biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00051 Fructose and mannose metabolism
    5373 (PMM2)
   00520 Amino sugar and nucleotide sugar metabolism
    5373 (PMM2)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.4  Intramolecular transferases
   5.4.2  Phosphotransferases (phosphomutases)
    5.4.2.8  phosphomannomutase
     5373 (PMM2)
SSDB
Motif
Pfam: PMM Hydrolase_3 S6PP SBP_bac_6 T2SSG Hydrolase
Other DBs
NCBI-GeneID: 5373
NCBI-ProteinID: NP_000294
OMIM: 601785
HGNC: 9115
Ensembl: ENSG00000140650
Vega: OTTHUMG00000129697
Pharos: O15305(Tchem)
UniProt: O15305 A0A0S2Z4J6 Q59F02
Structure
PDB: 
2Q4R 2AMY

Position
16p13.2
AA seq 246 aa
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDV
VEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFI
EFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
CELLFS
NT seq 741 nt   +upstreamnt  +downstreamnt
atggcagcgcctggcccagcgctctgcctcttcgacgtggatgggaccctcaccgccccg
cggcagaaaattaccaaagaaatggatgacttcctacaaaaattgaggcagaagatcaaa
atcggagtggtaggcggatcggactttgagaaagtgcaggagcaactgggaaatgatgtg
gttgaaaaatacgattatgtgtttccagaaaatggcttggtagcatacaaagatgggaaa
ctcttgtgtagacagaatattcaaagtcatctgggtgaggccctaatccaagatttaatc
aactactgtctgagctacattgcgaaaattaaactcccgaagaagaggggtactttcatt
gaattccgaaatgggatgttaaacgtgtcccctattggaagaagctgcagccaagaagaa
cgcattgagttctacgaactcgataaaaaagaaaatataagacaaaagtttgtagcagat
ctacggaaagagtttgctggaaaaggcctcacgttttccataggaggccagatcagcttt
gatgtctttcctgatggatgggacaagagatactgtctgcgacatgtggaaaatgacggt
tataagaccatttatttctttggagacaaaactatgccaggtggcaatgaccatgagatc
ttcacagaccccagaaccatgggctactccgtgacagcgcctgaggacacgcgcaggatc
tgtgaactgctgttctcctaa

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