KEGG   Homo sapiens (human): 10020Help
Entry
10020             CDS       T01001                                 

Gene name
GNE, DMRV, GLCNE, IBM2, NM, Uae1
Definition
(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
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Disease
H00147  
Sialuria/ Sialic acid storage disease
H00594  
Distal myopathy
H00596  
Nonaka distal myopathy (NM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
Pharos: 
Q9Y223(Tbio)
UniProt: 
Structure
PDB: 

Jmol
Position
9p13.3
AA seq 722 aa AA seqDB search
MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHLIDDYGNTYRM
IEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALA
TSAALMNIRILHIEGGEVSGTIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILL
AGCPSYDKLLSAKNKDYMSIIRMWLGDDVKSKDYIVALQHPVTTDIKHSIKMFELTLDAL
ISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVKHVPFDQFIQLVAHAGCMIGN
SSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQFGKQYPCSKI
YGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLR
VAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNP
REGIVLHSTKLIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTL
ITGTGIGGGIIHQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREA
KKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTM
NPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRR
IY
NT seq 2169 nt NT seq  +upstreamnt  +downstreamnt
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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