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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]
GALK1 (Galactokinase 1) is a Protein Coding gene. Diseases associated with GALK1 include Galactosemia Ii and Galactosemia I. Among its related pathways are Galactose metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include galactose binding and galactokinase activity. An important paralog of this gene is GALK2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004335 | galactokinase activity | IEA,IDA | 7542884 |
GO:0005515 | protein binding | IPI | 32296183 |
GO:0005524 | ATP binding | IEA,IDA | 12694189 |
GO:0005534 | galactose binding | IDA | 14596685 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 8908517 |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | NOT membrane | HDA,IDA | 8908517 |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Galactose metabolism |
Galactose metabolism
.38
|
|
2 | Metabolism |
.40
|
|
3 | Amino sugar and nucleotide sugar metabolism | ||
4 | Glycosaminoglycan metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006012 | galactose metabolic process | IEA,IMP | 15024738 |
GO:0016310 | phosphorylation | IEA | -- |
GO:0019388 | galactose catabolic process | TAS | -- |
GO:0019402 | galactitol metabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
|||
beta-D-Galactose |
|
7296-64-2 |
|
|||
D-Galactose |
|
3646-73-9 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | · | 9c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GALK1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GALK1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GALK1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Galk1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Galk1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GALK1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GALK1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GALK1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GALK1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | galk1 30 |
|
||
Str.16350 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | galk1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002914 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GAL1 31 |
|
ManyToMany | |
GAL3 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | GalAK 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0608100 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1715 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
863469 | Pathogenic: Deficiency of galactokinase | 75,763,954(-) |
C/A NM_000154.2(GALK1):c.298G>T (p.Glu100Ter) |
NONSENSE | |
888974 | Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia | 75,754,659(-) |
G/A NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr) |
MISSENSE | |
888975 | Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia | 75,754,697(-) |
C/T NM_000213.5(ITGB4):c.4440C>T (p.Arg1480=) |
SYNONYMOUS | |
889033 | Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia | 75,756,995(-) |
C/T NM_000213.5(ITGB4):c.5106C>T (p.Thr1702=) |
SYNONYMOUS | |
889034 | Likely Benign: Epidermolysis bullosa junctionalis with pyloric atresia | 75,757,185(-) |
A/T NM_000213.5(ITGB4):c.5219-15A>T |
INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
galactosemia ii |
|
|
galactosemia i |
|
|
epidermolysis bullosa with pyloric atresia |
|
|
epidermolysis bullosa junctionalis with pyloric atresia |
|
|
galactosemia iii |
|
|