GALK1

Protein identityUniProt · HPA

UniProt accession

P51570

Gene

GALK1

Ensembl

ENSG00000108479

Chromosome

17

Canonical length

392 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Golgi apparatus,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

392 residues, UniProt reviewed canonical sequence.

>P51570|GALK1
     1  MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG LVLPMALELM
    61  TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE PGTPRWANYV KGVIQYYPAA
   121  PLPGFSAVVV SSVPLGGGLS SSASLEVATY TFLQQLCPDS GTIAARAQVC QQAEHSFAGM
   181  PCGIMDQFIS LMGQKGHALL IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR
   241  RQCEEVARAL GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY
   301  RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG CTVTLLEASA
   361  APHAMRHIQE HYGGTATFYL SQAADGAKVL CL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GALK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.21

Highest tissue expression

99 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GALK1.

Disease | AllUniProt

Conditions GALK1 is implicated in, by any mechanism.

• Galactosemia 2 (GALAC2) MIM:230200

Disease | GeneticClinVar

112 pathogenic / likely-pathogenic of 592 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Deficiency of galactokinase
• GALK1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.09

gnomAD pLI

0

gnomAD missense Z

0.59

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• galactose catabolic process via UDP-galactose, Leloir pathway
• galactose metabolic process
• galactitol metabolic process
• glycolytic process from galactose

Molecular functions

• ATP binding
• galactokinase activity
• galactose binding

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• membrane

Protein domainsUniProt · Pfam · InterPro

• Galactokinase
• GHMP kinase, ATP-binding, conserved site
• GHMP kinase N-terminal domain
• Mevalonate/galactokinase
• GHMP kinase, C-terminal domain
• Small ribosomal subunit protein uS5 domain 2-type fold, subgroup
• Galactokinase, N-terminal domain
• Galactokinase, conserved site
• Ribosomal protein uS5 domain 2-type superfamily
• GHMP kinase, C-terminal domain superfamily
• GHMP kinases N terminal domain
• GHMP kinases C terminal
• Galactokinase galactose-binding signature

KeywordsUniProt

• ATP-binding
• Carbohydrate metabolism
• Cataract
• Galactose metabolism
• Kinase
• Nucleotide-binding
• Phosphoprotein
• Transferase