• Gene id: 130589

Gene Summary

• Gene Symbol: GALM   Gene   UCSC   Ensembl
• Aliases: BLOCK25, GALAC4, GLAT, HEL-S-63p, IBD1
• Gene name: galactose mutarotase
• Alternate names: aldose 1-epimerase, aldose mutarotase, epididymis secretory sperm binding protein Li 63p, galactomutarotase, galactose enzyme activator,
• Gene location: 2p22.1 (38665921: 38734764)     Exons: 9     NC_000002.12
• Gene summary(Entrez): This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose met
• OMIM: 602049

Protein Summary

• Protein general information: Q96C23  
  • Name: Aldose 1 epimerase (EC 5.1.3.3) (Galactose mutarotase)
  • Length: 342  
  • Mass: 37766
• Sequence:

  MASVTRAVFGELPSGGGTVEKFQLQSDLLRVDIISWGCTITALEVKDRQGRASDVVLGFAELEGYLQKQPYFGAV
  IGRVANRIAKGTFKVDGKEYHLAINKEPNSLHGGVRGFDKVLWTPRVLSNGVQFSRISPDGEEGYPGELKVWVTY
  TLDGGELIVNYRAQASQATPVNLTNHSYFNLAGQASPNINDHEVTIEADTYLPVDETLIPTGEVAPVQGTAFDLR
  KPVELGKHLQDFHLNGFDHNFCLKGSKEKHFCARVHHAASGRVLEVYTTQPGVQFYTGNFLDGTLKGKNGAVYPK
  HSGFCLETQNWPDAVNQPRFPPVLLRPGEEYDHTTWFKFSVA

• Structural information:
  • Interpro: IPR018052  IPR015443  IPR008183  IPR011013  IPR014718  
  • Prosite: PS00545
  • PDB: 1SNZ 1SO0
  • PDBsum: 1SNZ 1SO0
  • STRING: ENSP00000272252
• Other Databases: GeneCards:  GALM  Malacards:  GALM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033499	galactose catabolic process via UDP-galactose	IBA	biological process
GO:0006006	glucose metabolic process	IBA	biological process
GO:0004034	aldose 1-epimerase activity	IBA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0019318	hexose metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004034	aldose 1-epimerase activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IDA	NOT|molecular function
GO:0005975	carbohydrate metabolic process	IDA	biological process
GO:0004034	aldose 1-epimerase activity	IDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0019318	hexose metabolic process	IEA	biological process
GO:0006012	galactose metabolic process	IEA	biological process
GO:0006012	galactose metabolic process	IDA	biological process
GO:0006006	glucose metabolic process	IDA	biological process
GO:0004034	aldose 1-epimerase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00010	Glycolysis / Gluconeogenesis
hsa00052	Galactose metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)