2.7.7.12: UDP-glucose-hexose-1-phosphate uridylyltransferase
This is an abbreviated version!
For detailed information about UDP-glucose-hexose-1-phosphate uridylyltransferase, go to the full flat file.
Word Map on EC 2.7.7.12
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2.7.7.12
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galactosemia
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galactokinase
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udp-glcnac
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duarte
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n-acetylglucosamine-1-phosphate
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4-epimerase
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leloir
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glucosamine-1-phosphate
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medicine
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uridylylated
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galactose-restricted
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diagnostics
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drug development
- 2.7.7.12
- galactosemia
- galactokinase
- udp-glcnac
-
duarte
- n-acetylglucosamine-1-phosphate
-
4-epimerase
-
leloir
-
glucosamine-1-phosphate
- medicine
-
uridylylated
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galactose-restricted
- diagnostics
- drug development
Reaction
Synonyms
galactose 1-phosphate uridylyltransferase, galactose-1-phosphate uridyl transferase, galactose-1-phosphate uridyltransferase, galactose-1-phosphate uridylyltransferase, galactose-1-phosphate:uridyltransferase, GALT, GALT enzyme, GalT1, GalT2, hexose 1-phosphate uridyltransferase, hexose 1-phosphate uridylyltransferase, hexose-1-phosphate uridylyltransferase, UDP-Glc-hexose-1-P uridylyltransferase, UDP-glucose-hexose-1-P uridylyltransferase, UDPGlc:Gal-1-P uridylyltransferase, UDPglucose-hexose-1-phosphate uridylyltransferase, UDPglucose:alpha-D-galactose-1-phosphate uridylyltransferase, uridine diphosphoglucose:alpha-D-galactose-1-phosphate uridilyltransferase, uridyl transferase, uridyltransferase, uridylylgalactose-1-P uridylyltransferase, uridylyltransferase, hexose 1-phosphate
ECTree
2.7.7.12 UDP-glucose-hexose-1-phosphate uridylyltransferaseAdvanced search results
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results (Engineering
Engineering on EC 2.7.7.12 - UDP-glucose-hexose-1-phosphate uridylyltransferase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
C160A
C52S
site-directed mutagenesis, 3000fold less active than the wild-type, no formation of reaction intermediate UMP-enzyme, low metal content, low expression level
C55S
site-directed mutagenesis, 600fold less active than the wild-type, no formation of reaction intermediate UMP-enzyme, low metal content, low expression level
E182A
site-directed mutagenesis, 50% activity compared to wild-type, normal formation of reaction intermediate UMP-enzyme, contains reduced zinc content and no iron
H115N
site-directed mutagenesis, 2.9% activity compared to wild-type, slightly reduced formation of reaction intermediate UMP-enzyme, retention of zinc and iron
H164N
site-directed mutagenesis, 10000fold less active than the wild-type, no formation of reaction intermediate UMP-enzyme, low metal content, low expression level
H166 A
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site-directed mutagenesis, point mutation leads to shift of the enzyme activity to UDP-hexose synthase activity, formation of uridine 5'-phosphoimidazolate and alpha-D-glucose 1-phosphate from UDP-glucose and imidazole, highly reduced activity compared to H166G mutant
H166G
Q168N
Q168R
S161A
D28Y
variant associated with type I galactosemia. 13.5% of wild-type activity
E203K
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native heterozygous mutant, reduced activity by about 50% in erythrocytes
E291K
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site-directed mutagenesis for construction of the naturally occuring mutation, 62.8% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
E340X/L218L/N314D
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native mutant, no or nearly no enzyme activity, L218L is a silent mutation, galactosemia phenotype
F171S
F171Y
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site-directed mutagenesis, 4% activity compared to wild-type, no inhibition by excess UDP-glucose
F194L
variant associated with type I galactosemia. 11.9% of wild-type activity
K285N
L139P
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site-directed mutagenesis for construction of the naturally occuring mutation, 1.9% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
L218L/N314D
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native Duarte-1 D1 variant, L218L is a silent mutation, N314D leads to 110-130% activity compared to the wild-type
L74P
variant associated with type I galactosemia, residue is strictly conserved across species. No residual activity
N314D
N314D/E203K
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homozygous N314D mutant with introduced cis mutation E203K does no longer show the reduced, but the full activity and increased thermolablity of mutant without E203K
N314D/G1105C/G1391A
P183T
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site-directed mutagenesis for construction of the naturally occuring mutation, 45.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
P185A
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site-directed mutagenesis, reduced activity and reduced expression level compared to wild-type
P185C
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site-directed mutagenesis, no remaining activity, same expression level compared to wild-type
P185D
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site-directed mutagenesis, no remaining activity, same expression level compared to wild-type
P185E
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site-directed mutagenesis, reduced activity, same expression level compared to wild-type
P185F
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site-directed mutagenesis, no remaining activity, highly reduced expression level compared to wild-type
P185G
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site-directed mutagenesis, reduced activity and expression level compared to wild-type
P185H
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site-directed mutagenesis, no remaining activity, reduced expression level compared to wild-type
P185I
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site-directed mutagenesis, no remaining activity, highly reduced expression level compared to wild-type
P185K
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site-directed mutagenesis, no remaining activity, reduced expression level compared to wild-type
P185L
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site-directed mutagenesis, no remaining activity, highly reduced expression level compared to wild-type
P185M
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site-directed mutagenesis, no remaining activity, reduced expression level compared to wild-type
P185N
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site-directed mutagenesis, no remaining activity, reduced expression level compared to wild-type
P185Q
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site-directed mutagenesis, reduced activity, increased expression level compared to wild-type
P185R
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site-directed mutagenesis, no remaining activity, same expression level compared to wild-type
P185S
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site-directed mutagenesis, reduced activity, reduced expression level compared to wild-type
P185T
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site-directed mutagenesis, no remaining activity, reduced expression level compared to wild-type
P185V
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site-directed mutagenesis, no remaining activity, highly reduced expression level compared to wild-type
P185W
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site-directed mutagenesis, no remaining activity, highly reduced expression level compared to wild-type
P185Y
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site-directed mutagenesis, no remaining activity, reduced expression level compared to wild-type
Q188P
variant identified in a patient with classic galactosemia, introduces a missense substitution near the active site of the GALT enzyme. The variant is found in the compound heterozygous state in a child with classic galactosemia, but not in either of her parents. The patient inherited a common Q188R GALT mutation from the mother
Q188R
R201H
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site-directed mutagenesis for construction of the naturally occuring mutation, 62.8% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
R231H
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site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
R258C
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native mutant, 15-20% activity compared to wild-type, some clinical symptoms
R259W
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site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
R333G
R333W
R67C
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site-directed mutagenesis for construction of the naturally occuring mutation, 2.3% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
S135L
T350A
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site-directed mutagenesis for construction of the naturally occuring mutation, 9.9% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
V151A
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site-directed mutagenesis for construction of the naturally occuring mutation, 4.6% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucosey
W316X/N314D/G1105C/G1391A
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native mutant, nearly no enzyme activity, galactosemia phenotype
Y323D
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site-directed mutagenesis for construction of the naturally occuring mutation, 9.6% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
additional information
H166G
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point mutation leads to shift of the enzyme activity to UDP-hexose synthase activity, formation of uridine 5'-phosphoimidazolate and alpha-D-glucose 1-phosphate from UDP-glucose and imidazole
Q168N
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site-directed mutagenesis, 50fold reduced activity compared to wild-type, 40fold decreased kcat
Q168R
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site-directed mutagenesis, 270000fold reduced activity compared to wild-type, i.e. nearly no remaining activity, mutant active sites can be uridylated by 65%, with very slow deuridylylation, compared to 100% for the wild-type, reduced metal content
Q168R
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in humans galactosemia causing mutation, used as a model in bacterial system, 30000fold loss of activity, 28% reduced metal ion content
S161A
site-directed mutagenesis, 7000fold reduced activity compared to wild-type
F171S
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site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
F171S
variant associated with type I galactosemia, residue is strictly conserved across species. No residual activity
K285N
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site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
K285N
the most common mutations, include p.S135L, p.N314D, p.Q188R, and p.K285N from different ethnicities. Computational pipeline is used to explore the crystal structure and effects due to the most prevalent mutations in the GALT protein. The mutation p.K285N is located in the alpha helix region (alpha4) of the protein is less pathogenic
K285N
the p.K285N allele shows a high frequency in Caucasians and is associated to null blood GALT activity and a severe clinical phenotype
N314D
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site-directed mutagenesis for construction of the naturally occuring mutation, unaltered activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
N314D
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native missense mutant Duarte D, homozygous, characteristic isoform, partial impairment of enzyme activity in human erythrocytes, fibroblasts, and transformed lymphoblasts, reduced Vmax, increased thermal lability
N314D
the most common mutations, include p.S135L, p.N314D, p.Q188R, and p.K285N from different ethnicities. Computational pipeline is used to explore the crystal structure and effects due to the most prevalent mutations in the GALT protein. p.N314D mutation, located in the loop region is less pathogenic
N314D/G1105C/G1391A
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native Duarte-2 D2 variant, 40-50% activity compared to the wild-type
N314D/G1105C/G1391A
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native Duarte-2 D2 variant with additional exchange of bases at 1323 G to A, 20-25% activity compared to wild-type, no clinical symptoms
Q188R
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site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
Q188R
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20-30% activity of wild-type activity as heterodimer with wild-type subunit, no activity as homodimer
Q188R
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most common native mutation causing galactosemia in the white population
Q188R
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site-directed mutagenesis for expression of the mutant in Escherichia coli, nearly no activity in vitro
Q188R
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native mutant, no enzyme activity in vivo, galactosemia phenotype
Q188R
higher tendency of hGALT(p.Q188R) to aggregate due to its reduced ability to be uridylylated
Q188R
significant deviation and fluctuation in the p.Q188R mutation with a loss in compactness reduced the amount of intramolecular hydrogen bonds. p.Q188R mutation (located in the beta-sheet eight region) is extremely pathogenic and has destabilizing effects compared to the native and the other mutations
Q188R
the p.Q188R allele shows a high frequency in Caucasians and is associated to null blood GALT activity and a severe clinical phenotype
R333G
variant associated with type I galactosemia, residue is strictly conserved across species. 0.6% of wild.type activtiy
R333W
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site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
R333W
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20-30% activity of wild-type activity as heterodimer with wild-type subunit, no activity as homodimer
S135L
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site-directed mutagenesis for construction of the naturally occuring mutation, 2.7% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose
S135L
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native mutant, can be found in about 50% of galactosemia patients of African-American descent, 10fold reduced enzyme activity compared to wild-type, no steric or electrochemical changes sufficiently close to the active site to result in partial impairment of the reaction
S135L
the mutant demonstrates reduced compactness and increased intramolecular hydrogen bonds. p.S135L mutation (located at the loop region) is extremely pathogenic and has destabilizing effects compared to the native and the other mutations
S135L
the substitution p.S135L is common in Africans and is associated to a mild phenotype albeit having less than 1% residual enzymatic GALT activity
additional information
introduction of Asn and Arg at residue 188, normally Gln, in a three-dimensional model of the Escherichia coli enzyme-UMP-crystal
additional information
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construction and expression of bifunctional fusion protein composed of galactose-2-phosphate uridylyltransferase and UDP-galactose 4-epimerase with an intervening linker of 3 Ala residues, 20% increased Vmax compared to a mixture of the single enzymes
additional information
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coexpression of wild-type and/or mutant subunits in yeast, study of dimer formation pattern and subunit assortment, mutations: S135L, F171S, F171W, H186G, Q188R, N314D, R333W, overview
additional information
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Munich2 mutant with base exchange at 2252 G to T, 20-25% activity compared to wild-type, no clinical symptoms
additional information
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native Schönstadt mutant with base exchange at 897 G to C, 15-20% activity compared to wild-type, some clinical symptoms
additional information
characterization of a large deletion spanning 8489 bp in the GALT gene accounting for the majority of disease alleles in Cypriot patients with classic galactosemia
additional information
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characterization of a large deletion spanning 8489 bp in the GALT gene accounting for the majority of disease alleles in Cypriot patients with classic galactosemia
additional information
construction of transgenic mice expressing a luciferase transgene under control of a 1.9 kb fragment of the UDP-glucose-hexose-1-phosphate uridylyltransferase promotor region , activity is found in most tissues with higher than expected reporter levels in neonatal brain
