Homo sapiens (human): 10020
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Entry
10020 CDS
T01001
Symbol
GNE, DMRV, GLCNE, IBM2, NM, 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
hsa01100
Metabolic pathways
hsa01250
Biosynthesis of nucleotide sugars
Disease
H00147
Sialuria
H00594
Distal myopathy
H00596
Nonaka myopathy (NM)
H00978
Thrombocytopenia (THC)
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09101 Carbohydrate metabolism
00520 Amino sugar and nucleotide sugar metabolism
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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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
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All DBs
Position
9:complement(36214441..36276978)
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AA seq
722 aa
AA seq
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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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