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galactose-1-phosphate uridylyltransferase

Summary

Gene Symbol

GALT

Organism

Homo sapiens (human)

External Links

NCBI Gene

2592

HGNC

4135

KEGG Gene ID

hsa:2592

PubChem

2592

Alliance of Genome Resources

HGNC:4135

JoGo

GALT

TogoVar

GALT

Annotation

Keyword

3D-structure
Alternative splicing
Cataract
Disease variant
Galactose metabolism
Iron
Metal-binding
Nucleotidyltransferase
Proteomics identification
Reference proteome
Zinc

Proteins

Displaying **all 3** entries
UniProt	Protein Name
P07902	UDP-glucose--hexose-1-phosphate uridylyltransferase
A0A0S2Z3Y7
B2RAT6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
UDP-alpha-D-glucose metabolic process	IDA
galactose metabolic process	TAS
galactose metabolic process	IDA
galactose metabolic process	IEA
phosphate-containing compound metabolic process

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

phosphorus metabolic process [inference]

organophosphate metabolic process

nucleoside phosphate metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-alpha-D-glucose metabolic process

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

phosphate-containing compound metabolic process

catabolic process [inference]

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

small molecule catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

galactose metabolic process

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

hexose catabolic process [inference]

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-alpha-D-glucose metabolic process

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

galactose metabolic process

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

hexose catabolic process [inference]

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

small molecule catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-alpha-D-glucose metabolic process

carbohydrate derivative metabolic process

nucleotide-sugar metabolic process [inference]

UDP-alpha-D-glucose metabolic process

beta-D-galactose catabolic process via UDP-galactose, Leloir pathway

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cytoplasm	IBA
Golgi apparatus	IDA
cytosol	TAS

GO Hierarchy

cellular component

cellular anatomical structure [inference]

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
protein binding	IPI
UDP-glucose:hexose-1-phosphate uridylyltransferase activity	EXP
UDP-glucose:hexose-1-phosphate uridylyltransferase activity	TAS
UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IDA
UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

nucleotidyltransferase activity [inference]

uridylyltransferase activity [inference]

UDP-glucose:hexose-1-phosphate uridylyltransferase activity

binding [inference]

protein binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

zinc ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000213930

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00965

Name

UDPglucose--hexose-1-phosphate uridylyltransferase [EC:2.7.7.12]

References

22461411

Rhea

RHEA:13989

α-D-galactose 1-phosphate + UDP-α-D-glucose

α-D-glucose 1-phosphate + UDP-α-D-galactose

Enzyme

2.7.7.12

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0111459	classic galactosemia	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 64 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000518	Cataract
HP:0000707	Abnormality of the nervous system
HP:0000716	Depression
HP:0000729	Autistic behavior
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0000786	Primary amenorrhea
HP:0000815	Hypergonadotropic hypogonadism

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:79239	classic galactosemia
OMIM:230400	classic galactosemia

PubChem Disease

GHR Health Conditions

Galactosemia

MedGen Diseases

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

OMIM Phenotypes

GALACTOSEMIA I; GALAC1

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying **all 5** entries
Species	Gene ID	Alliance of Genome Resources
Saccharomyces cerevisiae S288C	852306	SGD:S000000222
Mus musculus	14430	MGI:95638
Rattus norvegicus	298003	RGD:1306483
Caenorhabditis elegans	175506	WB:WBGene00014203
Drosophila melanogaster	33935	FB:FBgn0263200

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements