GALT (galactose-1-phosphate uridylyltransferase)

2007-02-01  

Identity

HGNC
GALT
LOCATION
9p13.3
LOCUSID
2592
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2592
MIM: 606999
HGNC: 4135
Ensembl: ENSG00000213930

Variants:

dbSNP: 2592
ClinVar: 2592
TCGA: ENSG00000213930
COSMIC: GALT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213930ENST00000378842P07902
ENSG00000213930ENST00000378842A0A0S2Z3Y7
ENSG00000213930ENST00000450095P07902
ENSG00000213930ENST00000473506F2Z2X9
ENSG00000213930ENST00000554085G3V223
ENSG00000213930ENST00000554550G3V3U5
ENSG00000213930ENST00000554897G3V3U5
ENSG00000213930ENST00000556244H0YJL3

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Galactose metabolismKEGGko00052
Amino sugar and nucleotide sugar metabolismKEGGko00520
Galactose metabolismKEGGhsa00052
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Nucleotide sugar biosynthesis, eukaryotesKEGGhsa_M00361
Nucleotide sugar biosynthesis, eukaryotesKEGGM00361
Nucleotide sugar biosynthesis, galactose => UDP-galactoseKEGGhsa_M00554
Nucleotide sugar biosynthesis, galactose => UDP-galactoseKEGGM00554
Prolactin signaling pathwayKEGGhsa04917
Prolactin signaling pathwayKEGGko04917
Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1PKEGGhsa_M00632
Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1PKEGGM00632
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Galactose catabolismREACTOMER-HSA-70370

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
155068332004Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study.24
115119272001Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.17
146146232003Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
192249512009Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.10
182102132008A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.9
200083392010Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.9
126065942003The N314D polymorphism of the GALT gene is not associated with congenital absence of the uterus and vagina.6

Citation

Dessen P

GALT (galactose-1-phosphate uridylyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45878/galt