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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

Annotation

Keyword

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

Proteins

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
UDP-glucose metabolic process	IDA	27005423
galactose catabolic process via UDP-galactose	IBA
galactose metabolic process	IDA	27005423
galactose catabolic process	TAS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

catabolic process [inference]

small molecule catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

organic substance catabolic process [inference]

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

phosphorus metabolic process [inference]

UDP-glucose metabolic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

galactose metabolic process

galactose catabolic process

galactose catabolic process via UDP-galactose

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

galactose metabolic process

galactose catabolic process

galactose catabolic process via UDP-galactose

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

small molecule catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

galactose metabolic process

galactose catabolic process

galactose catabolic process via UDP-galactose

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

carbohydrate derivative metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

organic substance catabolic process [inference]

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process

galactose catabolic process via UDP-galactose

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

phosphorus metabolic process [inference]

UDP-glucose metabolic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-glucose metabolic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cytosol	TAS
cytoplasm	IBA
Golgi apparatus	IDA	20605918

GO Hierarchy

cellular component

cellular anatomical entity [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 **all 3** entries
GO Term	Evidence Code	PMID
zinc ion binding	IDA	27005423
UDP-glucose:hexose-1-phosphate uridylyltransferase activity	EXP IBA IDA TAS	1897530 27005423
protein binding	IPI	16189514 25416956 25910212 26871637 28514442 32296183

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

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 entries **21 - 30** of 49 in total

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DO ID	Disease Name	Source
DOID:1924	hypogonadism	DisGeNET
DOID:2383	neonatal jaundice	DisGeNET
DOID:2394	ovarian cancer	DisGeNET DisGeNET DisGeNET
DOID:2747	glycogen storage disease	DisGeNET
DOID:2749	glycogen storage disease Ia	DisGeNET
DOID:2786	cerebellar disease	DisGeNET
DOID:2862	glucosephosphate dehydrogenase deficiency	DisGeNET
DOID:288	endometriosis of uterus	DisGeNET DisGeNET
DOID:289	endometriosis	DisGeNET DisGeNET
DOID:3571	liver cancer	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **41 - 50** of 64 in total

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HPO ID	HPO Term
HP:0002174	Postural tremor
HP:0002240	Hepatomegaly
HP:0002311	Incoordination
HP:0002312	Clumsiness
HP:0002345	Action tremor
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003251	Male infertility
HP:0003355	Aminoaciduria
HP:0004349	Reduced bone mineral density
HP:0004918	Hyperchloremic metabolic acidosis

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 entries **51 - 60** of 78 in total

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Species	Gene ID	Orthologous MAtrix
Otolemur garnettii	100954354	OTOGA03202
Chinchilla lanigera	102021334	CHILA16917
Aotus nancymaae	105724559	AOTNA27946
Aotus nancymaae	105724560	AOTNA27946
Phascolarctos cinereus	110194548	PHACI06026
Saimiri boliviensis boliviensis	101035136	SAIBB38759
Saimiri boliviensis boliviensis	101037150	SAIBB38759
Ictidomys tridecemlineatus	101970458	ICTTR00580
Scophthalmus maximus	118285173	SCOMX09312
Myotis lucifugus	102423614	MYOLU11650

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements