GALT - galactose-1-phosphate uridylyltransferase Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2592

About GALT

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,646,675-34,651,035 (from NCBI)

This gene has 29 transcripts (splice variants), 168 orthologues and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 23.8), liver (RPKM 21.4) and 25 other tissues.

Summary

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GALT Products (2)

mRNA Protein Name
NM_000155.4 NP_000146.2 galactose-1-phosphate uridylyltransferase isoform 1
NM_001258332.2 NP_001245261.1 galactose-1-phosphate uridylyltransferase isoform 2
Molecular Function GO Annotation Evidence References Source
enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity EXP
EXP: Inferred from Experiment
1897530 GOA
enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity IDA
IDA: Inferred from direct assay
27005423 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
27005423 GOA
Biological Process GO Annotation Evidence References Source
involved in UDP-glucose metabolic process IDA
IDA: Inferred from direct assay
27005423 GOA
involved in galactose metabolic process IDA
IDA: Inferred from direct assay
27005423 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
20605918 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GALT Protein Structure

GalP_UDP_transf

GalP_UDP_transf: Galactose-1-phosphate uridyl transferase, N-terminal domain (23 - 196)

GalP_UDP_tr_C

GalP_UDP_tr_C: Galactose-1-phosphate uridyl transferase, C-terminal domain (203 - 368)

  • 0
  • 100
  • 200
  • 300
  • 379 a.a.
Protein Preferred Names Protein Names

galactose-1-phosphate uridylyltransferase

  • UDP-glucose--hexose-1-phosphate uridylyltransferase

GALT Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GALT P07902 GRPEL1 Homo sapiens Q9HAV7 32296183
Intra
GALT P07902 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
GALT P07902 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
GALT P07902 KRTAP6-2 Homo sapiens Q3LI66 32296183
Intra
GALT P07902 TNK2 Homo sapiens Q07912-2 25910212
Intra
GALT P07902 TNK2 Homo sapiens Q07912-2 25910212
Intra
GALT P07902 TNK2 Homo sapiens Q07912-2 25910212
Intra
GALT P07902 UBTD2 Homo sapiens Q8WUN7 32296183
Intra
GALT P07902 UBTD2 Homo sapiens Q8WUN7 32296183
Intra
GALT P07902 UBTD2 Homo sapiens Q8WUN7 32296183
Intra
GALT P07902 TRIP13 Homo sapiens Q15645 26871637
Intra
GALT P07902 TRIP13 Homo sapiens Q15645 26871637
Intra
GALT P07902 TRIP13 Homo sapiens Q15645 16189514
Intra
GALT P07902 TRIP13 Homo sapiens Q15645 26871637
Intra
GALT P07902 NQO1 Homo sapiens P15559 32296183
Intra
GALT P07902 NQO1 Homo sapiens P15559 32296183
Intra
GALT P07902 NQO1 Homo sapiens P15559 32296183
Intra
GALT P07902 TNK2 Homo sapiens Q07912 25416956
Intra
GALT P07902 TNK2 Homo sapiens Q07912 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

GALT Antibodies

Cat. No. Product Name Application Reactivity
HY-P83180 GALT Antibody (YA2925) WB, IP Human, Mouse, Rat
HY-P83180A GALT Antibody (YA2925)(PBS only) WB, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Galactosemia I
  • Galactosemia

  • Galt Deficiency

  • Classic Galactosemia

  • Galactose-1-Phosphate Uridylyltransferase Deficiency

  • Galactose-1-Phosphate Uridyltransferase Deficiency

  • GALAC1

  • Galactosemia, Classic

  • Galactosemia Type 1

  • Galactosemias

  • Classical Galactosemia

  • Galactosaemia

  • Galactose Intolerance

  • Epimerase Deficiency Galactosemia

  • Galactokinase Deficiency Disease

  • Galactose Epimerase Deficiency

  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

  • Gale Deficiency

  • Galk Deficiency

  • Udp-Galactose-4-Epimerase Deficiency Disease

  • Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

  • Galactosemia 1

  • Galactosemia, Duarte Variant

  • Deficiency Of Galactokinase

  • Udpglucose 4-Epimerase Deficiency Disease

  • Classical Galactosaemia

  • Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

  • Classic Galactosaemia

  • Deficiency Of Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Galactose-1-Phosphate Uridylyltransferase

  • Galactose-1-Phosphate Uridyl Transferase Deficiency

  • Transferase Deficiency Galactosemia

  • Deficiency Of Uridyl Transferase

  • Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

  • Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Galactosemia Ii
  • Galactokinase Deficiency

  • Galk Deficiency

  • Galactokinase Deficiency With Cataracts

  • Deficiency Of Galactokinase

  • GALAC2

  • Galk-D

  • Galactokinase Deficiency Galactosemia

  • Galactosemia 2

  • Galactosemia Type 2

  • Hereditary Galactokinase Deficiency

  • Galactokinase Deficiency, Cataract

  • Galactosemias

  • Galk - [Galactokinase Deficiency]

Galactosemia Iii
  • Galactose Epimerase Deficiency

  • Gale Deficiency

  • Udp-Galactose-4-Epimerase Deficiency

  • Epimerase Deficiency Galactosemia

  • Galactosemia Type 3

  • Gale-D

  • Uridine Diphosphate Galactose-4-Epimerase Deficiency

  • GALAC3

  • Galactosemia 3

  • Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency

  • Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency

  • Galactosemia Type Iii

  • Udp-Galactose-4'-Epimerase Deficiency

  • Generalized Galactose Epimerase Deficiency

  • Generalized Gale Deficiency

  • Generalized Gale-D

  • Generalized Udp-Galactose-4-Epimerase Deficiency

  • Generalized Epimerase Deficiency Galactosemia

  • Erythrocyte Galactose Epimerase Deficiency

  • Erythrocyte Gale Deficiency

  • Erythrocyte Gale-D

  • Erythrocyte Udp-Galactose-4-Epimerase Deficiency

  • Erythrocyte Epimerase Deficiency Galactosemia

  • Galactosemias

  • Classical Galactosemia

  • Udpglucose 4-Epimerase Deficiency Disease

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Lens Subluxation
  • Subluxation Of Lens

Ovarian Disease
  • Ovarian Dysfunction

  • Ovarian Diseases

  • Ovarian Disorders

  • Disorder Of Endocrine Ovary

Premature Ovarian Failure 1
  • Ovarian Failure, Premature

  • Fmr1-Related Primary Ovarian Insufficiency

  • Fragile X-Associated Primary Ovarian Insufficiency

  • POF1

  • Pofx

  • Hypergonadotropic Ovarian Failure, X-Linked

  • Pof

  • Primary Ovarian Insufficiency, Fragile X-Associated

  • Primary Ovarian Insufficiency 1

  • Ovarian Failure Premature

  • Premature Ovarian Failure, X-Linked

  • Fragile X Premature Ovarian Failure

  • Fmr1-Related Premature Ovarian Failure

  • Familial Premature Ovarian Failure

  • Idiopathic Familial Premature Ovarian Failure

  • Fxpoi

  • X-Linked Hypergonadotropic Ovarian Failure

  • Hypergonadotropic Ovarian Failure X-Linked

  • Poi

  • Premature Ovarian Failure X-Linked

  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure-1

  • Ovarian Failure, Premature, Type 1

  • Premature Ovarian Failure, Familial

  • Premature Menopause

  • Primary Hypogonadism

  • Turner Syndrome

Hypotonia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris GALT VGNC VGNC:41103
Bos taurus GALT VGNC VGNC:29242
Rattus norvegicus GALT RGD RGD:1306483
Felis catus GALT VGNC VGNC:97443
Mus musculus GALT MGD MGI:95638
Others GALT NCBI