KEGG   Homo sapiens (human): 2673
Entry
2673              CDS       T01001                                 
Symbol
GFPT1, CMS12, CMSTA1, GFA, GFAT, GFAT_1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG
Name
(RefSeq) glutamine--fructose-6-phosphate transaminase 1
  KO
K00820  glutamine---fructose-6-phosphate transaminase (isomerizing) [EC:2.6.1.16]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00250  Alanine, aspartate and glutamate metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa01100  Metabolic pathways
hsa01250  Biosynthesis of nucleotide sugars
hsa04931  Insulin resistance
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00892  UDP-N-acetyl-D-glucosamine biosynthesis, eukaryotes, glucose => UDP-GlcNAc
Disease
H00770  Congenital myasthenic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00520 Amino sugar and nucleotide sugar metabolism
    2673 (GFPT1)
  09105 Amino acid metabolism
   00250 Alanine, aspartate and glutamate metabolism
    2673 (GFPT1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    2673 (GFPT1)
  09167 Endocrine and metabolic disease
   04931 Insulin resistance
    2673 (GFPT1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    2673 (GFPT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.6  Transferring nitrogenous groups
   2.6.1  Transaminases
    2.6.1.16  glutamine---fructose-6-phosphate transaminase (isomerizing)
     2673 (GFPT1)
Peptidases and inhibitors [BR:hsa01002]
 Cysteine peptidases
  Family C44
   2673 (GFPT1)
SSDB
Motif
Pfam: SIS GATase_6 GATase_7 GATase_4 GATase_2 SIS_2 FAS_N DUF6287
Other DBs
NCBI-GeneID: 2673
NCBI-ProteinID: NP_001231639
OMIM: 138292
HGNC: 4241
Ensembl: ENSG00000198380
UniProt: Q06210
Structure
Position
2:complement(69319780..69387227)
AA seq 699 aa
MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLI
KKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIV
IHNGIITNYKDLKKFLESKGYDFESETDTETIAKLVKYMYDNRESQDTSFTTLVERVIQQ
LEGAFALVFKSVHFPGQAVGTRRGSPLLIGVRSEHKLSTDHIPILYRTARTQIGSKFTRW
GSQGERGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASDASAVIEHTNRVIFLEDDDVA
AVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRG
RVNFDDYTVNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELAS
DFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTVGSSISRETDCGV
HINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQERRKEIMLGLKRLPDLIKEVLS
MDDEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLAL
VDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVD
CLQGILSVIPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE
NT seq 2100 nt   +upstreamnt  +downstreamnt
atgtgtggtatatttgcttacttaaactaccatgttcctcgaacgagacgagaaatcctg
gagaccctaatcaaaggccttcagagactggagtacagaggatatgattctgctggtgtg
ggatttgatggaggcaatgataaagattgggaagccaatgcctgcaaaatccagcttatt
aagaagaaaggaaaagttaaggcactggatgaagaagttcacaagcaacaagatatggat
ttggatatagaatttgatgtacaccttggaatagctcatacccgttgggcaacacatgga
gaacccagtcctgtcaatagccacccccagcgctctgataaaaataatgaatttatcgtt
attcacaatggaatcatcaccaactacaaagacttgaaaaagtttttggaaagcaaaggc
tatgacttcgaatctgaaacagacacagagacaattgccaagctcgttaagtatatgtat
gacaatcgggaaagtcaagataccagctttactaccttggtggagagagttatccaacaa
ttggaaggtgcttttgcacttgtgtttaaaagtgttcattttcccgggcaagcagttggc
acaaggcgaggtagccctctgttgattggtgtacggagtgaacataaactttctactgat
cacattcctatactctacagaacagctaggactcagattggatcaaaattcacacggtgg
ggatcacagggagaaagaggcaaagacaagaaaggaagctgcaatctctctcgtgtggac
agcacaacctgccttttcccggtggaagaaaaagcagtggagtattactttgcttctgat
gcaagtgctgtcatagaacacaccaatcgcgtcatctttctggaagatgatgatgttgca
gcagtagtggatggacgtctttctatccatcgaattaaacgaactgcaggagatcacccc
ggacgagctgtgcaaacactccagatggaactccagcagatcatgaagggcaacttcagt
tcatttatgcagaaggaaatatttgagcagccagagtctgtcgtgaacacaatgagagga
agagtcaactttgatgactatactgtgaatttgggtggtttgaaggatcacataaaggag
atccagagatgccggcgtttgattcttattgcttgtggaacaagttaccatgctggtgta
gcaacacgtcaagttcttgaggagctgactgagttgcctgtgatggtggaactagcaagt
gacttcctggacagaaacacaccagtctttcgagatgatgtttgctttttccttagtcaa
tcaggtgagacagcagatactttgatgggtcttcgttactgtaaggagagaggagcttta
actgtggggatcacaaacacagttggcagttccatatcacgggagacagattgtggagtt
catattaatgctggtcctgagattggtgtggccagtacaaaggcttataccagccagttt
gtatcccttgtgatgtttgcccttatgatgtgtgatgatcggatctccatgcaagaaaga
cgcaaagagatcatgcttggattgaaacggctgcctgatttgattaaggaagtactgagc
atggatgacgaaattcagaaactagcaacagaactttatcatcagaagtcagttctgata
atgggacgaggctatcattatgctacttgtcttgaaggggcactgaaaatcaaagaaatt
acttatatgcactctgaaggcatccttgctggtgaattgaaacatggccctctggctttg
gtggataaattgatgcctgtgatcatgatcatcatgagagatcacacttatgccaagtgt
cagaatgctcttcagcaagtggttgctcggcaggggcggcctgtggtaatttgtgataag
gaggatactgagaccattaagaacacaaaaagaacgatcaaggtgccccactcagtggac
tgcttgcagggcattctcagcgtgatccctttacagttgctggctttccaccttgctgtg
ctgagaggctatgatgttgatttcccacggaatcttgccaaatctgtgactgtagagtga

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