InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-79787

galactosidase, alpha

IDBP-811764

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

ENSMUSG00000031266

View Gene Order

ENSBTAG00000019256

Not yet available

Pathways

NETPATH

REACTOME

REACT_116105

Glycosphingolipid metabolism pathway

REACT_19323

Sphingolipid metabolism pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_111217

Metabolism pathway

KEGG

hsa00052

Galactose metabolism pathway

hsa00600

Sphingolipid metabolism pathway

hsa00603

Glycosphingolipid biosynthesis pathway

hsa00561

Glycerolipid metabolism pathway

hsa04142

Lysosome pathway

INOH

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