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0GALK1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameGALK1
DescriptionGalactokinase (ec 2.7.1.6) (galactose kinase).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005737 cytoplasm (TAS)
0004335 galactokinase activity (TAS)
0006012 galactose metabolism (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
This domain is found in homoserine kinases.alactokinases and mevalonate kinases.
  IPR013750:GHMP kinase, C-terminal
The galacto- ().omoserine ().evalonate () and phosphomevalonate () kinases contain.n their N-terminal section. conserved Gly/Ser-rich region which is probably involved in the binding of ATP . This group of kinases has been called GHMP (from the first letter of their substrates).
  IPR006204:GHMP kinase
Galactokinase catalyses the first reaction in the galactose metabolism pathway.he ATP-dependent phosphorylation of galactose.ielding galactose-1-phosphate .Deficiency in this enzyme results in the disease galactosemia.hich is responsible for theformation of cataracts in newborn babies.nd is possibly responsible for presenile cataracts inadults . In yeast.he GAL3 gene product is required for the GAL4-mediated inductionof other enzymes involved in galactose metabolism. The induction of GAL1 production then reinforcesthis process.ncreasing the expression of other galactose-inducible genes. GAL3 has been shown tobe similar to the GAL1 protein .
  IPR000705:Galactokinase
Mevalonate kinase () and galactokinases () belong to this family. Mevalonate kinase may be a regulatory site in the cholesterol biosynthetic pathway. It is also involved in mevalonate catabolism. Galactokinase takes part in the first reaction of galactose metabolism by converting galactose to galactose-1-phosphate.
  IPR006206:Mevalonate and galactokinase
IPR013750:GHMP_kinases_C 
Evalue:-13.8538722991943 
Location:291-374IPR006204:GHMP_kinases_N 
Evalue:-11.9208183288574 
Location:126-194IPR006206:MEVGALKINASE 
Evalue:0 
Location:34-58IPR000705:GALCTOKINASE 
Evalue:0 
Location:276-290IPR000705:GALCTOKINASE 
Evalue:0 
Location:106-117
SequencesProtein: GALK1_HUMAN (392 aa)
mRNA: NM_000154
Local Annotation
Synapse Ontology
Typical ecretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of nonpeptide neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
sdb:0094 typical synaptic vesicle  (Evidence:keywords)
KO assignmentK00849
  Level 3 annotation:
    galactokinase
  Level 2 annotation:
    Galactose metabolism
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 64 residues, 71265612-71265803Exon2: 56 residues, 71265885-71266048Exon3: 52 residues, 71266124-71266275Exon4: 62 residues, 71270379-71270561Exon5: 47 residues, 71270689-71270825Exon6: 42 residues, 71270995-71271115Exon7: 65 residues, 71271572-71271762Exon8: 78 residues, 71272647-71272875Exon9: 2 residues, -Jump to GALK1_HUMAN  
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Loci Cluster (Details)Loci: 3038 70178864-70255068 ~-76K 16552(+)Loci: 3039 70256378-70277089 ~-21K 16559(SLC9A3R1)(+)Loci: 4310 70349762-70367602 ~-18K 16565(GRIN2C)(-)Loci: 4311 70370220-70380710 ~-10K 16567(FDXR)(-)Loci: 4312 70546549-70554669 ~-8K 16577(ATP5H)(-)Loci: 4313 70637918-70639472 ~-2K 16582(NT5C)(-)Loci: 4314 70744289-70769272 ~-25K 16589(GGA3)(-)Loci: 4315 70780668-70797109 ~-16K 16594(SLC25A19)(-)Loci: 4316 71265612-71272875 ~-7K 16620(GALK1)(-)Loci: 4317 71514521-71534972 ~-20K 16639(EVPL)(-)Loci: 4318 71546785-71580202 ~-33K 16642(SRP68)(-)Loci: 3040 71582486-71585168 ~-3K 16644(GALR2)(+)Loci: 3041 71586857-71590480 ~-4K 16645(+)Loci: 4319 71588681-71611451 ~-23K 16647(EXOC7)(-)Loci: 3037 69833964-69859062 ~-25K 16537(+)Link out to UCSC