Homo sapiens (human): 5373
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Entry
5373 CDS
T01001
Symbol
PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM_2
Name
(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
hsa01250
Biosynthesis of nucleotide sugars
Module
hsa_M01000
GDP-Man biosynthesis, Fru-6P => GDP-Man
Network
nt06015
N-Glycan biosynthesis
Element
N00667
N-Glycan precursor biosynthesis, Glc-6P to Man-P-Dol
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)
09107 Glycan biosynthesis and metabolism
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)
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GFIT
Motif
Pfam:
PMM
Hydrolase_3
S6PP
Hydrolase
YezG-like
T2SSG
Motif
Other DBs
NCBI-GeneID:
5373
NCBI-ProteinID:
NP_000294
OMIM:
601785
HGNC:
9115
Ensembl:
ENSG00000140650
UniProt:
O15305
A0A0S2Z4J6
Q59F02
Structure
PDB
PDBj
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All DBs
Position
16:8797839..8849325
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AA seq
246 aa
AA seq
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MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDV
VEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFI
EFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
CELLFS
NT seq
741 nt
NT seq
+upstream
nt +downstream
nt
atggcagcgcctggcccagcgctctgcctcttcgacgtggatgggaccctcaccgccccg
cggcagaaaattaccaaagaaatggatgacttcctacaaaaattgaggcagaagatcaaa
atcggagtggtaggcggatcggactttgagaaagtgcaggagcaactgggaaatgatgtg
gttgaaaaatacgattatgtgtttccagaaaatggcttggtagcatacaaagatgggaaa
ctcttgtgtagacagaatattcaaagtcatctgggtgaggccctaatccaagatttaatc
aactactgtctgagctacattgcgaaaattaaactcccgaagaagaggggtactttcatt
gaattccgaaatgggatgttaaacgtgtcccctattggaagaagctgcagccaagaagaa
cgcattgagttctacgaactcgataaaaaagaaaatataagacaaaagtttgtagcagat
ctacggaaagagtttgctggaaaaggcctcacgttttccataggaggccagatcagcttt
gatgtctttcctgatggatgggacaagagatactgtctgcgacatgtggaaaatgacggt
tataagaccatttatttctttggagacaaaactatgccaggtggcaatgaccatgagatc
ttcacagaccccagaaccatgggctactccgtgacagcgcctgaggacacgcgcaggatc
tgtgaactgctgttctcctaa
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