• Gene id: 2717

Gene Summary

• Gene Symbol: GLA   Gene   UCSC   Ensembl
• Aliases: GALA
• Gene name: galactosidase alpha
• Alternate names: alpha-galactosidase A, agalsidase alfa, alpha-D-galactosidase A, alpha-D-galactoside galactohydrolase 1, alpha-gal A, melibiase,
• Gene location: Xq22.1 (101407924: 101397802)     Exons: 8     NC_000023.11
• Gene summary(Entrez): This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galacto
• OMIM: 300644

Protein Summary

• Protein general information: P06280  
  • Name: Alpha galactosidase A (EC 3.2.1.22) (Alpha D galactosidase A) (Alpha D galactoside galactohydrolase) (Melibiase) (Agalsidase)
  • Length: 429  
  • Mass: 48767
• Sequence:

  MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAEL
  MVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFG
  YYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNH
  WRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDL
  RHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKG
  VACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL

• Structural information:
  • Interpro: IPR013785  IPR002241  IPR000111  IPR013780  IPR017853   IPR035373  
  • Prosite: PS00512
  • CDD: cd14792
  • PDB: 1R46 1R47 3GXN 3GXP 3GXT 3HG2 3HG3 3HG4 3HG5 3LX9 3LXA 3LXB 3LXC 3S5Y 3S5Z 3TV8 4NXS 6IBK 6IBM 6IBR 6IBT
  • PDBsum: 1R46 1R47 3GXN 3GXP 3GXT 3HG2 3HG3 3HG4 3HG5 3LX9 3LXA 3LXB 3LXC 3S5Y 3S5Z 3TV8 4NXS 6IBK 6IBM 6IBR 6IBT
  • STRING: ENSP00000218516
• Other Databases: GeneCards:  GLA  Malacards:  GLA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016139	glycoside catabolic process	IBA	biological process
GO:0004557	alpha-galactosidase activity	IBA	molecular function
GO:0046477	glycosylceramide catabolic process	IBA	biological process
GO:0009311	oligosaccharide metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004557	alpha-galactosidase activity	IDA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0004557	alpha-galactosidase activity	IEA	molecular function
GO:0052692	raffinose alpha-galactosidase activity	IEA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004557	alpha-galactosidase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016936	galactoside binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0009311	oligosaccharide metabolic process	IDA	biological process
GO:0005102	signaling receptor binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0004557	alpha-galactosidase activity	IDA	molecular function
GO:0003824	catalytic activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016787	hydrolase activity	TAS	molecular function
GO:0005794	Golgi apparatus	IMP	cellular component
GO:0005764	lysosome	TAS	cellular component
GO:0046479	glycosphingolipid catabolic process	TAS	biological process
GO:0046477	glycosylceramide catabolic process	ISS	biological process
GO:0005737	cytoplasm	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051001	negative regulation of nitric-oxide synthase activity	ISS	biological process
GO:0045019	negative regulation of nitric oxide biosynthetic process	ISS	biological process
GO:0005764	lysosome	IMP	cellular component
GO:0005576	extracellular region	IMP	cellular component
GO:0004557	alpha-galactosidase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa00561	Glycerolipid metabolism
hsa00600	Sphingolipid metabolism
hsa00052	Galactose metabolism
hsa00603	Glycosphingolipid biosynthesis - globo and isoglobo series

Diseases

Associated diseases	References
Sphingolipidosis	KEGG:H00423
Fabry disease	KEGG:H00125
Sphingolipidosis	KEGG:H00423
Fabry disease	KEGG:H00125
Fabry disease	PMID:2539398
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)