Entity Details

Primary name GALT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP07902
EntryNameGALT_HUMAN
FullNameGalactose-1-phosphate uridylyltransferase
TaxID9606
Evidenceevidence at protein level
Length379
SequenceStatuscomplete
DateCreated1988-08-01
DateModified2021-06-02

Ontological Relatives

GenesGALT

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0006011 UDP-glucose metabolic process
GO:0006012 galactose metabolic process
GO:0006258 UDP-glucose catabolic process
GO:0008108 UDP-glucose:hexose-1-phosphate uridylyltransferase activity
GO:0008270 zinc ion binding
GO:0019388 galactose catabolic process
GO:0033499 galactose catabolic process via UDP-galactose

Subcellular Location

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Domains

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DomainNameCategoryType
IPR001937 Galactose-1-phosphate uridyl transferase, class IFamilyFamily
IPR005849 Galactose-1-phosphate uridyl transferase, N-terminalDomainDomain
IPR005850 Galactose-1-phosphate uridyl transferase, C-terminalDomainDomain
IPR019779 Galactose-1-phosphate uridyl transferase, class I His-active siteSiteActive site
IPR036265 HIT-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
230400 OMIMGalactosemia 1 (GALAC1)A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC1 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.