| Entry |
|
|---|
| Gene name |
GNE, DMRV, GLCNE, IBM2, NM, Uae1
|
|---|
| Definition |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (EC:2.7.1.60 3.2.1.183)
|
|---|
| Orthology |
| bifunctional UDP-N-acetylglucosamine 2-epimerase / N-acetylmannosamine kinase [EC: 5.1.3.14 2.7.1.60] |
|
|---|
| Organism |
|
|---|
| Pathway |
| Amino sugar and nucleotide sugar metabolism | | Metabolic pathways |
|
|---|
| Disease |
| Sialuria/ Sialic acid storage disease | | Distal muscular dystrophies | | Nonaka distal myopathy (NM) |
|
|---|
| Class |
Metabolism; Carbohydrate metabolism; Amino sugar and nucleotide sugar metabolism [PATH: hsa00520]
 |
|---|
| SSDB |
   |
|---|
| Motif |
 |
|---|
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
|---|
| Structure |
PDB: |
|---|
| Position |
9p13.3
|
|---|
| AA seq |
753 aa  
METYGYLQRESCFQGPHELYFKNLSKRNKQIMEKNGNNRKLRVCVATCNRADYSKLAPIM
FGIKTEPEFFELDVVVLGSHLIDDYGNTYRMIEQDDFDINTRLHTIVRGEDEAAMVESVG
LALVKLPDVLNRLKPDIMIVHGDRFDALALATSAALMNIRILHIEGGEVSGTIDDSIRHA
ITKLAHYHVCCTRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDV
KSKDYIVALQHPVTTDIKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKG
IEHHPNFRAVKHVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGE
NVLHVRDADTQDKILQALHLQFGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCF
PPVKENISQDIDHILETLSALAVDLGGTNLRVAIVSMKGEIVKKYTQFNPKTYEERINLI
LQMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTKLIQEWNSVDLRTPLSDTLH
LPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGSSFCAAELGH
LVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQ
AAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALS
SVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY |
|---|
| NT seq |
2262 nt  +upstreamnt +downstreamnt
atggaaacctatggttatctgcagagggagtcatgctttcaaggacctcatgaactctat
tttaagaacctctcaaaacgaaacaagcaaatcatggagaagaatggaaataaccgaaag
ctgcgggtttgtgttgctacttgtaaccgtgcagattattctaaacttgccccgatcatg
tttggcattaaaaccgaacctgagttctttgaacttgatgttgtggtacttggctctcac
ctgatagatgactatggaaatacatatcgaatgattgaacaagatgactttgacattaac
accaggctacacacaattgtgaggggagaagatgaggcagccatggtggagtcagtaggc
ctggccctagtgaagctgccagatgtccttaatcgcctgaagcctgatatcatgattgtt
catggagacaggtttgatgccctggctctggccacatctgctgccttgatgaacatccga
atccttcacattgaaggtggggaagtcagtgggaccattgatgactctatcagacatgcc
ataacaaaactggctcattatcatgtgtgctgcacccgcagtgcagagcagcacctgata
tccatgtgtgaggaccatgatcgcatccttttggcaggctgcccttcctatgacaaactt
ctctcagccaagaacaaagactacatgagcatcattcgcatgtggctaggtgatgatgta
aaatctaaagattacattgttgcactacagcaccctgtgaccactgacattaagcattcc
ataaaaatgtttgaattaacattggatgcacttatctcatttaacaagcggaccctagtc
ctgtttccaaatattgacgcagggagcaaagagatggttcgagtgatgcggaagaagggc
attgagcatcatcccaactttcgtgcagttaaacacgtcccatttgaccagtttatacag
ttggttgcccatgctggctgtatgattgggaacagcagctgtggggttcgagaagttgga
gcttttggaacacctgtgatcaacctgggaacacgtcagattggaagagaaacaggggag
aatgttcttcatgtccgggatgctgacacccaagacaaaatattgcaagcactgcacctt
cagtttggtaaacagtacccttgttcaaagatatatggggatggaaatgctgttccaagg
attttgaagtttctcaaatctatcgatcttcaagagccactgcaaaagaaattctgcttt
cctcctgtgaaggagaatatctctcaagatattgaccatattcttgaaactctaagtgcc
ttggccgttgatcttggcgggacgaacctccgagttgcaatagtcagcatgaagggtgaa
atagttaagaagtatactcagttcaatcctaaaacctatgaagagaggattaatttaatc
ctacagatgtgtgtggaagctgcagcagaagctgtaaaactgaactgcagaattttggga
gtaggcatttccacaggtggccgtgtaaatcctcgggaaggaattgtgctgcattcaacc
aaactgatccaagagtggaactctgtggaccttaggacccccctttctgacactttgcat
ctccctgtgtgggtagacaatgatggcaactgtgctgccctggcggaaaggaaatttggc
caaggaaagggactggaaaactttgttacacttatcacaggcacaggaatcggtggtgga
attatccatcagcatgaattgatccacggaagctccttctgtgctgcagaactgggccac
cttgttgtgtctctggatgggcctgattgttcctgtggaagccatgggtgcattgaagca
tacgcctctggaatggccttgcagagggaggcaaaaaagctccatgatgaggacctgctc
ttggtggaagggatgtcagtgccaaaagatgaggctgtgggtgcgctccatctcatccaa
gctgcgaaacttggcaatgcgaaggcccagagcatcctaagaacagctggaacagctttg
ggtcttggggttgtgaacatcctccataccatgaatccctcccttgtgatcctctccgga
gtcctggccagtcactatatccacattgtcaaagacgtcattcgccagcaggccttgtcc
tccgtgcaggacgtggatgtggtggtttcggatttggttgaccccgccctgctgggtgct
gccagcatggttctggactacacaacacgcaggatctactag |
|---|
