KEGG   Homo sapiens (human): 130589
Entry
130589            CDS       T01001                                 

Gene name
GALM, BLOCK25, GALAC4, GLAT, HEL-S-63p, IBD1
Definition
(RefSeq) galactose mutarotase
  KO
K01785  aldose 1-epimerase [EC:5.1.3.3]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00052  Galactose metabolism
hsa01100  Metabolic pathways
Module
hsa_M00632  Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1P
Network
nt06023  Galactose degradation
  Element
N00847  Galactose degradation
N00848  GALE deficiency in galactose degradation
N00849  GALT deficiency in galactose degradation
N00850  GALK1 deficiency in galactose degradation
N01333  GALM deficiency in galactose degradation
Disease
H00070  Galactosemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00010 Glycolysis / Gluconeogenesis
    130589 (GALM)
   00052 Galactose metabolism
    130589 (GALM)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.1  Racemases and epimerases
   5.1.3  Acting on carbohydrates and derivatives
    5.1.3.3  aldose 1-epimerase
     130589 (GALM)
SSDB
Motif
Pfam: Aldose_epim
Other DBs
NCBI-GeneID: 130589
NCBI-ProteinID: NP_620156
OMIM: 137030
HGNC: 24063
Ensembl: ENSG00000143891
Vega: OTTHUMG00000102077
Pharos: Q96C23(Tbio)
UniProt: Q96C23 A0A384MDW6
LinkDB
Structure
PDB: 
1SNZ 1SO0

Position
2p22.1
AA seq 342 aa
MASVTRAVFGELPSGGGTVEKFQLQSDLLRVDIISWGCTITALEVKDRQGRASDVVLGFA
ELEGYLQKQPYFGAVIGRVANRIAKGTFKVDGKEYHLAINKEPNSLHGGVRGFDKVLWTP
RVLSNGVQFSRISPDGEEGYPGELKVWVTYTLDGGELIVNYRAQASQATPVNLTNHSYFN
LAGQASPNINDHEVTIEADTYLPVDETLIPTGEVAPVQGTAFDLRKPVELGKHLQDFHLN
GFDHNFCLKGSKEKHFCARVHHAASGRVLEVYTTQPGVQFYTGNFLDGTLKGKNGAVYPK
HSGFCLETQNWPDAVNQPRFPPVLLRPGEEYDHTTWFKFSVA
NT seq 1029 nt   +upstreamnt  +downstreamnt
atggcttcggtgaccagggccgtgtttggagagctgccctcgggaggagggacagtggag
aagttccagctgcagtcagacctcttgagagtggacatcatctcctggggctgcacgatc
acagccctagaggtcaaagacaggcaggggagagcctcggacgtggtgcttggcttcgcc
gagttggaaggatacctccaaaagcagccatactttggagcagttattgggagggtggcc
aaccgaatcgccaaaggaaccttcaaggtggatgggaaggagtatcacctggccattaac
aaggaacccaacagtctgcatggaggagtcagagggtttgataaagtgctctggacccct
cgggtgctgtcaaatggcgtccagttctcgcgcatcagtccagatggtgaagaaggctac
cccggagagttaaaagtctgggtgacatacaccctggatggcggagagctcatagtcaac
tacagagcacaagccagtcaggccacaccagtcaacctgaccaaccattcttacttcaac
ctggcaggccaggcttccccaaatataaatgaccatgaagtcaccatagaagcggatact
tatttgcctgtggatgaaaccctgattcctacaggagaagttgccccagtgcaaggcact
gcattcgacctgagaaagccagtggagcttggaaaacacctgcaggacttccatctcaat
ggttttgaccacaatttctgtctgaagggatctaaagaaaagcatttttgtgcaagggtg
catcatgctgcaagcgggcgggtactagaagtatacaccacccagcccggggtccagttt
tacacgggcaacttcctggatggcacattaaagggcaagaatggagctgtctatcccaag
cactccggtttctgcctggagactcagaactggcctgatgcagtcaatcagccccgcttc
cctcctgtgctgctgaggcctggtgaggagtatgaccacaccacctggttcaagttttct
gtggcttaa

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