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

Gene name
PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM_2
Definition
phosphomannomutase 2 (EC:5.4.2.8)
Orthology
K17497  
phosphomannomutase [EC:5.4.2.8]
Organism
hsa  Homo sapiens (human)
Pathway
Fructose and mannose metabolism
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Disease
H00118  
Congenital disorders of glycosylation (CDG) type I
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

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

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