• Gene id: 2584

Gene Summary

• Gene Symbol: GALK1   Gene   UCSC   Ensembl
• Aliases: GALK, GK1, HEL-S-19
• Gene name: galactokinase 1
• Alternate names: galactokinase, epididymis secretory protein Li 19, galactose kinase,
• Gene location: 17q25.1 (75765191: 75757893)     Exons: 8     NC_000017.11
• Gene summary(Entrez): 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]
• OMIM: 606582

Protein Summary

• Protein general information: P51570  
  • Name: Galactokinase (EC 2.7.1.6) (Galactose kinase)
  • Length: 392  
  • Mass: 42272
• Sequence:

  MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSL
  LTTSEGADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATY
  TFLQQLCPDSGTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNS
  NVRHSLASSEYPVRRRQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDY
  RAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGT
  ATFYLSQAADGAKVLCL

• Structural information:
  • Interpro: IPR000705  IPR019741  IPR019539  IPR013750  IPR036554   IPR006204  IPR006203  IPR006206  IPR020568  IPR014721  
  • Prosite: PS00106 PS00627
  • PDB: 1WUU 1YH7 6GR2 6Q3W 6Q8Z 6Q90 6Q91 6QJE
  • PDBsum: 1WUU 1YH7 6GR2 6Q3W 6Q8Z 6Q90 6Q91 6QJE
  • STRING: ENSP00000465930
• Other Databases: GeneCards:  GALK1  Malacards:  GALK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006012	galactose metabolic process	IBA	biological process
GO:0004335	galactokinase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004335	galactokinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005534	galactose binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006012	galactose metabolic process	IEA	biological process
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IEA	molecular function
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006012	galactose metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004335	galactokinase activity	IEA	molecular function
GO:0004335	galactokinase activity	EXP	molecular function
GO:0019388	galactose catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0061623	glycolytic process from galactose	IEA	biological process
GO:0006012	galactose metabolic process	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0006012	galactose metabolic process	IEA	biological process
GO:0005534	galactose binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0019402	galactitol metabolic process	IEA	biological process
GO:0004335	galactokinase activity	IEA	molecular function
GO:0004335	galactokinase activity	IEA	molecular function
GO:0006012	galactose metabolic process	IEA	biological process
GO:0004335	galactokinase activity	IDA	molecular function
GO:0016020	membrane	IDA	NOT|cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005534	galactose binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0004335	galactokinase activity	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006012	galactose metabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa00052	Galactose metabolism

Diseases

Associated diseases	References
Galactosemia	KEGG:H00070
Galactokinase deficiency	KEGG:H02009
Galactosemia	KEGG:H00070
Galactokinase deficiency	KEGG:H02009
Cataract	PMID:7670469
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq