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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 **1 - 10** of 49 in total

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0040085	bacterial sepsis	DisGeNET
DOID:0050753	cerebellar ataxia	DisGeNET
DOID:0060262	gallbladder disease	DisGeNET
DOID:0111275	speech-language disorder-1	DisGeNET
DOID:0111414	trichohepatoenteric syndrome	DisGeNET
DOID:0111415	trichohepatoenteric syndrome 1	DisGeNET
DOID:0111458	galactose epimerase deficiency	DisGeNET
DOID:0111459	classic galactosemia	DisGeNET Alliance of Genome Resources
DOID:1059	intellectual disability	DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of 64 in total

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HPO ID	HPO Term
HP:0000823	Delayed puberty
HP:0000868	Decreased fertility in females
HP:0000869	Secondary amenorrhea
HP:0000876	Oligomenorrhea
HP:0000939	Osteoporosis
HP:0000952	Jaundice
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001254	Lethargy

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 **41 - 50** of 78 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Dipodomys ordii	105993355		DIPOR16468
Mus musculus	14430	MGI:95638	MOUSE42714
Rattus norvegicus	298003	RGD:1306483	RATNO34053
Cavia porcellus	100726560		CAVPO12525
Heterocephalus glaber	101708590		HETGA12145
Monodelphis domestica	100618488		MONDO30727
Ursus maritimus	103667056		URSMA19409
Vombatus ursinus	114025794		VOMUR02201
Bos indicus x Bos taurus	113897381		BOBOX31100
Vicugna pacos	102544467		VICPA09380

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements