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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 metabolic process	IDA	27005423
galactose catabolic process via UDP-galactose	TAS
galactose catabolic process via UDP-galactose	IBA

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 [inference]

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 [inference]

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 [inference]

galactose catabolic process via UDP-galactose

hexose catabolic process [inference]

galactose catabolic process [inference]

galactose catabolic process via UDP-galactose

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

galactose catabolic process via UDP-galactose

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

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 [inference]

galactose catabolic process via UDP-galactose

hexose catabolic process [inference]

galactose catabolic process [inference]

galactose catabolic process via UDP-galactose

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

galactose catabolic process via UDP-galactose

small molecule catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

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 [inference]

galactose catabolic process via UDP-galactose

hexose catabolic process [inference]

galactose catabolic process [inference]

galactose catabolic process via UDP-galactose

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

galactose catabolic process via UDP-galactose

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

galactose catabolic process [inference]

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 [inference]

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
cytoplasm	IBA
Golgi apparatus	IDA	20605918
cytosol	TAS

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 entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
protein binding	IPI	16189514 25416956 25910212 26871637 28514442 32296183 33961781
UDP-glucose:hexose-1-phosphate uridylyltransferase activity	EXP	1897530
UDP-glucose:hexose-1-phosphate uridylyltransferase activity	TAS
UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IDA	27005423
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

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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Galactose-1-phosphate

Functional Category

G: Carbohydrate transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 7** entries
Gene Ontology
UDP-glucose
galactose catabolic process via UDP-galactose
galactose metabolic process
metal ion binding
nucleotidyltransferase activity
transferase activity
zinc ion binding

Displaying **all 5** entries
InterPro
Galactose-1-phosphate uridyl transferase, C-terminal
Galactose-1-phosphate uridyl transferase, N-terminal
Galactose-1-phosphate uridyl transferase, class I His-active site
Galactose-1-phosphate uridyl transferase, class I
HIT-like superfamily

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
OMIM:230400	classic galactosemia
ORPHA:79239	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 **1 - 10** of 77 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	2592	Xenbase:XB-GENE-6453444
Mus musculus	14430	Xenbase:XB-GENE-6453444	MOUSE42714
Xenopus tropicalis	33935	Xenbase:XB-GENE-6453444
Xenopus tropicalis	175506	Xenbase:XB-GENE-6453444
Rattus norvegicus	298003	Xenbase:XB-GENE-6453444	RATNO34053
Pan troglodytes	473219		PANTR43863
Canis lupus familiaris	474751		CANLF02264
Bos taurus	506997		BOVIN34844
Danio rerio	791130		DANRE01359
Xenopus tropicalis	852306	Xenbase:XB-GENE-6453444

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Other Information

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements