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Information on EC 2.7.7.12 - UDP-glucose-hexose-1-phosphate uridylyltransferase and Organism(s) Mus musculus

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Mus musculus
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The taxonomic range for the selected organisms is: Mus musculus
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria, Archaea
Synonyms
uridyltransferase, galt enzyme, uridyl transferase, hexose-1-phosphate uridylyltransferase, udp-glucose-hexose-1-phosphate uridylyltransferase, galactose-1-phosphate:uridyltransferase, udp-glucose:alpha-d-galactose-1-phosphate uridylyltransferase, udpglucose:alpha-d-galactose-1-phosphate uridylyltransferase, hexose 1-phosphate uridylyltransferase, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
hexose 1-phosphate uridyltransferase
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hexose 1-phosphate uridylyltransferase
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hexose-1-phosphate uridylyltransferase
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UDPglucose:alpha-D-galactose-1-phosphate uridylyltransferase
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uridyl transferase
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uridyltransferase
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uridylyltransferase, hexose 1-phosphate
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
nucleotidyl group transfer
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SYSTEMATIC NAME
IUBMB Comments
UDP-glucose:alpha-D-galactose-1-phosphate uridylyltransferase
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CAS REGISTRY NUMBER
COMMENTARY hide
9026-21-5
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SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
UDP-glucose + alpha-D-galactose 1-phosphate
alpha-D-glucose 1-phosphate + UDP-galactose
show the reaction diagram
NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
UDP-glucose + alpha-D-galactose 1-phosphate
alpha-D-glucose 1-phosphate + UDP-galactose
show the reaction diagram
transcriptional regulation is complex and not directly induced by substrate levels
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r
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
primary skin fibroblast
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
a galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model reveals reduced fertility and growth restriction. Mutant mice experience cerebellar hypoplasia, which may result from the down-regulation of the PI3K/Akt signaling pathway
physiological function
GalT-deficient mice exhibit a subfertility phenotype in adult females and growth restriction in both sexes. The growth potential and the protein levels of the Akt(Thr308), Akt(Ser473), pan-Akt, Pdk1, and Hsp90 proteins are significantly reduced by 62.5%, 60.3%, 66%, 66%, and 50%, respectively in GalT-deficient primary fibroblast cells. Reduced expression of phosphorylated Akt proteins in the mutant cells leads to diminished phosphorylation of Gsk-3b (-74%). Protein expression of BiP and pPten are 276% and 176% higher, respectively in cells with GalT-deficiency. The mRNA abundance of Akt1, Pdpk1, Hsp90aa1 and Pi3kca genes are significantly reduced at least 2.03-, 1.37-, 2.45-, and 1.78fold, respectively in mutant fibroblasts. Both serum-fasted normal and GalT-deficient cells respond to Igf-1-induced activation of Akt phosphorylation at +15 min, but the mutant cells have lower phosphorylation levels. The steady-state protein abundance of Igf-1 receptor is also significantly reduced in mutant cells
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
GALT_MOUSE
379
0
43232
Swiss-Prot
other Location (Reliability: 2)
A2AMS2_MOUSE
375
0
42862
TrEMBL
other Location (Reliability: 2)
A2AMS3_MOUSE
379
0
43202
TrEMBL
other Location (Reliability: 2)
Q3TQJ2_MOUSE
203
0
23578
TrEMBL
other Location (Reliability: 4)
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
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
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
transient expression of reporter plasmids in HepG2 cells and NS20Y mouse neuroblastoma cells carrying varying fragments of the gene sequence, functional promotor search and analysis, DNA sequencing
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Leslie, N.D.; Bai, S.
Functional analysis of the mouse galactose-1-phosphate uridyl transferase (GALT)promoter
Mol. Genet. Metab.
72
31-38
2001
Mus musculus (Q03249)
Manually annotated by BRENDA team
Balakrishnan, B.; Chen, W.; Tang, M.; Huang, X.; Cakici, D.D.; Siddiqi, A.; Berry, G.; Lai, K.
Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts
Biochem. Biophys. Res. Commun.
470
205-212
2016
Mus musculus (A2AMS3)
Manually annotated by BRENDA team
Chen, W.; Caston, R.; Balakrishnan, B.; Siddiqi, A.; Parmar, K.; Tang, M.; Feng, M.; Lai, K.
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency
J. Inherit. Metab. Dis.
40
131-137
2017
Mus musculus (Q03249)
Manually annotated by BRENDA team