• Gene id: 2582

Gene Summary

• Gene Symbol: GALE   Gene   UCSC   Ensembl
• Aliases: SDR1E1
• Gene name: UDP-galactose-4-epimerase
• Alternate names: UDP-glucose 4-epimerase, UDP galactose-4'-epimerase, UDP-GalNAc 4-epimerase, UDP-GlcNAc 4-epimerase, UDP-N-acetylgalactosamine 4-epimerase, UDP-N-acetylglucosamine 4-epimerase, epididymis secretory sperm binding protein, galactose-4-epimerase, UDP-, galactowalden,
• Gene location: 1p36.11 (23800753: 23795598)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of
• OMIM: 606953

Protein Summary

• Protein general information: Q14376  
  • Name: UDP glucose 4 epimerase (EC 5.1.3.2) (Galactowaldenase) (UDP N acetylgalactosamine 4 epimerase) (UDP GalNAc 4 epimerase) (UDP N acetylglucosamine 4 epimerase) (UDP GlcNAc 4 epimerase) (EC 5.1.3.7) (UDP galactose 4 epimerase)
  • Length: 348  
  • Mass: 38282
• Sequence:

  MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSLPESLRRVQELTGRSVEFEEMDILDQGALQR
  LFKKYSFMAVIHFAGLKAVGESVQKPLDYYRVNLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQYLPLDEAHPT
  GGCTNPYGKSKFFIEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIGRREALNV
  FGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMVQAMEKASGKKIPYKVVARR
  EGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQA

• Structural information:
  • Interpro: IPR016040  IPR036291  IPR005886  
  • CDD: cd05247
  • PDB: 1EK5 1EK6 1HZJ 1I3K 1I3L 1I3M 1I3N
  • PDBsum: 1EK5 1EK6 1HZJ 1I3K 1I3L 1I3M 1I3N
  • STRING: ENSP00000483375
• Other Databases: GeneCards:  GALE  Malacards:  GALE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0033499	galactose catabolic process via UDP-galactose	IBA	biological process
GO:0003978	UDP-glucose 4-epimerase activity	IBA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0003978	UDP-glucose 4-epimerase activity	IEA	molecular function
GO:0006012	galactose metabolic process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006012	galactose metabolic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0003978	UDP-glucose 4-epimerase activity	IEA	molecular function
GO:0003974	UDP-N-acetylglucosamine 4-epimerase activity	IEA	molecular function
GO:0019388	galactose catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0006012	galactose metabolic process	IEA	biological process
GO:0003978	UDP-glucose 4-epimerase activity	IEA	molecular function
GO:0006012	galactose metabolic process	IEA	biological process
GO:0019388	galactose catabolic process	IDA	biological process
GO:0003978	UDP-glucose 4-epimerase activity	IDA	molecular function

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
Galactose epimerase deficiency	KEGG:H02010
Galactosemia	KEGG:H00070
Galactose epimerase deficiency	KEGG:H02010
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray