Homo sapiens Gene: GLA
Summary
InnateDB Gene IDBG-79785.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GLA
Gene Name galactosidase, alpha
Synonyms GALA;
Species Homo sapiens
Ensembl Gene ENSG00000102393
Encoded Proteins
galactosidase, alpha
galactosidase, alpha
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:101397803-101407925
Strand Reverse strand
Band q22.1
Transcripts
ENST00000218516 ENSP00000218516
ENST00000493905 ENSP00000476935
ENST00000466414
ENST00000468823
ENST00000480513
ENST00000486121
ENST00000479445
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 18 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004557 alpha-galactosidase activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016936 galactoside binding
GO:0042803 protein homodimerization activity
GO:0052692 raffinose alpha-galactosidase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006665 sphingolipid metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0009311 oligosaccharide metabolic process
GO:0016139 glycoside catabolic process
GO:0044281 small molecule metabolic process
GO:0045019 negative regulation of nitric oxide biosynthetic process
GO:0046477 glycosylceramide catabolic process
GO:0046479 glycosphingolipid catabolic process
GO:0051001 negative regulation of nitric-oxide synthase activity
Cellular Component
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005794 Golgi apparatus
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Glycosphingolipid metabolism pathway
Metabolism pathway
KEGG
Galactose metabolism pathway
Glycerolipid metabolism pathway
Sphingolipid metabolism pathway
Glycosphingolipid biosynthesis pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.69089
RefSeq NM_000169
HUGO
OMIM
CCDS CCDS14484
HPRD 02357
IMGT
EMBL
GenPept
RNA Seq Atlas