Entity Details

Primary name GALK1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51570
EntryNameGALK1_HUMAN
FullNameGalactokinase
TaxID9606
Evidenceevidence at protein level
Length392
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesGALK1

GO terms

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GOName
GO:0004335 galactokinase activity
GO:0005524 ATP binding
GO:0005534 galactose binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006012 galactose metabolic process
GO:0016020 membrane
GO:0019388 galactose catabolic process
GO:0019402 galactitol metabolic process
GO:0061623 glycolytic process from galactose
GO:0070062 extracellular exosome

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000705 GalactokinaseFamilyFamily
IPR006203 GHMP kinase, ATP-binding, conserved siteSiteConserved site
IPR006204 GHMP kinase N-terminal domainDomainDomain
IPR006206 Mevalonate/galactokinaseFamilyFamily
IPR013750 GHMP kinase, C-terminal domainDomainDomain
IPR014721 Ribosomal protein S5 domain 2-type fold, subgroupFamilyHomologous superfamily
IPR019539 Galactokinase, N-terminal domainDomainDomain
IPR019741 Galactokinase, conserved siteSiteConserved site
IPR020568 Ribosomal protein S5 domain 2-type foldFamilyHomologous superfamily
IPR036554 GHMP kinase, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
230200 OMIMGalactosemia 2 (GALAC2)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. GALAC2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB04395 Phosphoaminophosphonic Acid-Adenylate EsterDrugbanksmall molecule

Interactions

5 interactions