• Gene id: 2592

Gene Summary

• Gene Symbol: GALT   Gene   UCSC   Ensembl
• Gene name: galactose-1-phosphate uridylyltransferase
• Alternate names: galactose-1-phosphate uridylyltransferase, UDP-glucose--hexose-1-phosphate uridylyltransferase, gal-1-P uridylyltransferase, galactose-1-phosphate uridyl transferase,
• Gene location: 9p13.3 (34646588: 34651034)     Exons: 11     NC_000009.12
• Gene summary(Entrez): 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 result
• OMIM: 606999

Protein Summary

• Protein general information: P07902  
  • Name: Galactose 1 phosphate uridylyltransferase (Gal 1 P uridylyltransferase) (EC 2.7.7.12) (UDP glucose hexose 1 phosphate uridylyltransferase)
  • Length: 379  
  • Mass: 43363
• Sequence:

  MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLC
  PGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAV
  VDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQE
  LLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
  HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRET
  ATIA

• Structural information:
  • Interpro: IPR001937  IPR019779  IPR005850  IPR005849  IPR036265  
  • Prosite: PS00117
  • CDD: cd00608
  • PDB: 1R3A 5IN3 6GQD
  • PDBsum: 1R3A 5IN3 6GQD
  • STRING: ENSP00000368119
• Other Databases: GeneCards:  GALT  Malacards:  GALT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008108	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IBA	molecular function
GO:0033499	galactose catabolic process via UDP-galactose	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008108	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IDA	molecular function
GO:0006011	UDP-glucose metabolic process	IDA	biological process
GO:0006012	galactose metabolic process	IDA	biological process
GO:0008108	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0033499	galactose catabolic process via UDP-galactose	IEA	biological process
GO:0006012	galactose metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0006012	galactose metabolic process	IEA	biological process
GO:0006012	galactose metabolic process	TAS	biological process
GO:0008108	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IEA	molecular function
GO:0008108	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	EXP	molecular function
GO:0019388	galactose catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008108	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IEA	molecular function
GO:0006258	UDP-glucose catabolic process	IEA	biological process
GO:0006012	galactose metabolic process	IEA	biological process
GO:0006012	galactose metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04917	Prolactin signaling pathway
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa00052	Galactose metabolism

Diseases

Associated diseases	References
Galactosemia	KEGG:H00070
Galactose-1P uridylyltransferase deficiency	KEGG:H02008
Galactosemia	KEGG:H00070
Galactose-1P uridylyltransferase deficiency	KEGG:H02008
Male infertility	MIK: 29779145

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29779145	Male infertility	c.404C>T, p.(Ser135Leu); c.512T>C, p.(Phe171Ser); c.591A>G, p.(Gln188Arg); c.1025C>T, p.(Arg333Trp);c.591A>G, p.(Gln188Arg); c.612T>C, p.(Leu195Pro); c.130G>A, p.(Val44Met); c.425T>A p.(Met142Lys); deletion of exons 1-11			Male infertility	F5 FMR1