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
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa01100  Metabolic pathways
Disease
H00147  Sialuria
H00594  Distal myopathy
H00596  Nonaka distal myopathy (NM)
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
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
Vega: OTTHUMG00000019899
Pharos: Q9Y223(Tbio)
UniProt: Q9Y223
Structure
PDB: 

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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