Homo sapiens (human): 10020
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Entry
10020 CDS
T01001
Symbol
GNE, DMRV, GLCNE, IBM2, NM, THC12, Uae1
Name
(RefSeq) glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
KO
K12409
bifunctional UDP-N-acetylglucosamine 2-epimerase / N-acetylmannosamine kinase [EC:
3.2.1.183
2.7.1.60
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00520
Amino sugar and nucleotide sugar metabolism
hsa00541
Biosynthesis of various nucleotide sugars
hsa01100
Metabolic pathways
hsa01250
Biosynthesis of nucleotide sugars
Module
hsa_M00955
CMP-Neu5Ac/Neu5Gc biosynthesis, animals, UDP-GlcNAc => CMP-Neu5Ac => CMP-Neu5Gc
Disease
H00147
Sialuria
H00594
Distal myopathy
H00596
Nonaka myopathy (NM)
H00978
Thrombocytopenia (THC)
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00520 Amino sugar and nucleotide sugar metabolism
10020 (GNE)
00541 Biosynthesis of various nucleotide sugars
10020 (GNE)
Enzymes [BR:
hsa01000
]
2. Transferases
2.7 Transferring phosphorus-containing groups
2.7.1 Phosphotransferases with an alcohol group as acceptor
2.7.1.60 N-acylmannosamine kinase
10020 (GNE)
3. Hydrolases
3.2 Glycosylases
3.2.1 Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
3.2.1.183 UDP-N-acetylglucosamine 2-epimerase (hydrolysing)
10020 (GNE)
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Paralog
Gene cluster
GFIT
Motif
Pfam:
Epimerase_2
ROK
Hexokinase_1
FGGY_N
DRTGG
Glucokinase
Motif
Other DBs
NCBI-GeneID:
10020
NCBI-ProteinID:
NP_005467
OMIM:
603824
HGNC:
23657
Ensembl:
ENSG00000159921
UniProt:
Q9Y223
Structure
PDB
PDBj
LinkDB
All DBs
Position
9:complement(36214441..36276978)
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AA seq
722 aa
AA seq
DB search
MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHLIDDYGNTYRM
IEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALA
TSAALMNIRILHIEGGEVSGTIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILL
AGCPSYDKLLSAKNKDYMSIIRMWLGDDVKSKDYIVALQHPVTTDIKHSIKMFELTLDAL
ISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVKHVPFDQFIQLVAHAGCMIGN
SSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQFGKQYPCSKI
YGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLR
VAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNP
REGIVLHSTKLIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTL
ITGTGIGGGIIHQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREA
KKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTM
NPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRR
IY
NT seq
2169 nt
NT seq
+upstream
nt +downstream
nt
atggagaagaatggaaataaccgaaagctgcgggtttgtgttgctacttgtaaccgtgca
gattattctaaacttgccccgatcatgtttggcattaaaaccgaacctgagttctttgaa
cttgatgttgtggtacttggctctcacctgatagatgactatggaaatacatatcgaatg
attgaacaagatgactttgacattaacaccaggctacacacaattgtgaggggagaagat
gaggcagccatggtggagtcagtaggcctggccctagtgaagctgccagatgtccttaat
cgcctgaagcctgatatcatgattgttcatggagacaggtttgatgccctggctctggcc
acatctgctgccttgatgaacatccgaatccttcacattgaaggtggggaagtcagtggg
accattgatgactctatcagacatgccataacaaaactggctcattatcatgtgtgctgc
acccgcagtgcagagcagcacctgatatccatgtgtgaggaccatgatcgcatccttttg
gcaggctgcccttcctatgacaaacttctctcagccaagaacaaagactacatgagcatc
attcgcatgtggctaggtgatgatgtaaaatctaaagattacattgttgcactacagcac
cctgtgaccactgacattaagcattccataaaaatgtttgaattaacattggatgcactt
atctcatttaacaagcggaccctagtcctgtttccaaatattgacgcagggagcaaagag
atggttcgagtgatgcggaagaagggcattgagcatcatcccaactttcgtgcagttaaa
cacgtcccatttgaccagtttatacagttggttgcccatgctggctgtatgattgggaac
agcagctgtggggttcgagaagttggagcttttggaacacctgtgatcaacctgggaaca
cgtcagattggaagagaaacaggggagaatgttcttcatgtccgggatgctgacacccaa
gacaaaatattgcaagcactgcaccttcagtttggtaaacagtacccttgttcaaagata
tatggggatggaaatgctgttccaaggattttgaagtttctcaaatctatcgatcttcaa
gagccactgcaaaagaaattctgctttcctcctgtgaaggagaatatctctcaagatatt
gaccatattcttgaaactctaagtgccttggccgttgatcttggcgggacgaacctccga
gttgcaatagtcagcatgaagggtgaaatagttaagaagtatactcagttcaatcctaaa
acctatgaagagaggattaatttaatcctacagatgtgtgtggaagctgcagcagaagct
gtaaaactgaactgcagaattttgggagtaggcatttccacaggtggccgtgtaaatcct
cgggaaggaattgtgctgcattcaaccaaactgatccaagagtggaactctgtggacctt
aggacccccctttctgacactttgcatctccctgtgtgggtagacaatgatggcaactgt
gctgccctggcggaaaggaaatttggccaaggaaagggactggaaaactttgttacactt
atcacaggcacaggaatcggtggtggaattatccatcagcatgaattgatccacggaagc
tccttctgtgctgcagaactgggccaccttgttgtgtctctggatgggcctgattgttcc
tgtggaagccatgggtgcattgaagcatacgcctctggaatggccttgcagagggaggca
aaaaagctccatgatgaggacctgctcttggtggaagggatgtcagtgccaaaagatgag
gctgtgggtgcgctccatctcatccaagctgcgaaacttggcaatgcgaaggcccagagc
atcctaagaacagctggaacagctttgggtcttggggttgtgaacatcctccataccatg
aatccctcccttgtgatcctctccggagtcctggccagtcactatatccacattgtcaaa
gacgtcattcgccagcaggccttgtcctccgtgcaggacgtggatgtggtggtttcggat
ttggttgaccccgccctgctgggtgctgccagcatggttctggactacacaacacgcagg
atctactag
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