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galactosidase alpha

Summary

Gene Symbol

Aliases

GALA

Organism

Homo sapiens (human)

External Links

NCBI Gene

2717

HGNC

4296

KEGG Gene ID

hsa:2717

PubChem

2717

Alliance of Genome Resources

HGNC:4296

JoGo

GLA

TogoVar

GLA

Annotation

Keyword

3D-structure
Direct protein sequencing
Disease variant
Disulfide bond
Glycoprotein
Glycosidase
Lipid metabolism
Lysosome
Pharmaceutical
Proteomics identification
RNA editing
Reference proteome
Signal

Proteins

Displaying **all 4** entries
UniProt	Protein Name
A0A3B3IUC4
Q53Y83
A0A6Q8PHD1
P06280	Alpha-D-galactosidase A Alpha-D-galactoside galactohydrolase Galactosylgalactosylglucosylceramidase GLA Melibiase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
carbohydrate metabolic process	IEA
oligosaccharide metabolic process	IDA
oligosaccharide metabolic process	IBA
glycoside catabolic process	IBA
glycolipid catabolic process	IEA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

catabolic process [inference]

lipid catabolic process [inference]

glycolipid catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process

glycosyl compound catabolic process [inference]

glycoside catabolic process

primary metabolic process [inference]

carbohydrate metabolic process

oligosaccharide metabolic process

lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

lipid catabolic process [inference]

glycolipid catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process

glycolipid catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process

carbohydrate derivative metabolic process [inference]

glycoside metabolic process [inference]

glycoside catabolic process

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process

glycosyl compound catabolic process [inference]

glycoside catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process

glycolipid catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of nitric oxide biosynthetic process

regulation of cellular process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of nitric oxide biosynthetic process

regulation of nitric oxide biosynthetic process [inference]

negative regulation of nitric oxide biosynthetic process

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of nitric oxide biosynthetic process

regulation of nitric oxide metabolic process [inference]

regulation of nitric oxide biosynthetic process [inference]

negative regulation of nitric oxide biosynthetic process

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of nitric oxide biosynthetic process

regulation of molecular function [inference]

negative regulation of molecular function [inference]

negative regulation of catalytic activity [inference]

negative regulation of oxidoreductase activity [inference]

negative regulation of nitric-oxide synthase activity

regulation of catalytic activity [inference]

negative regulation of catalytic activity [inference]

negative regulation of oxidoreductase activity [inference]

negative regulation of nitric-oxide synthase activity

regulation of oxidoreductase activity [inference]

regulation of nitric-oxide synthase activity [inference]

negative regulation of nitric-oxide synthase activity

negative regulation of oxidoreductase activity [inference]

negative regulation of nitric-oxide synthase activity

Displaying entries **1 - 5** of 14 in total

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GO Term	Evidence Code	PMID
extracellular region	TAS
extracellular region	IDA
extracellular region	IMP
extracellular region	IEA
cytoplasm	IMP

GO Hierarchy

cellular component

cellular anatomical structure [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

intracellular organelle lumen [inference]

vacuolar lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

Golgi apparatus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

Golgi apparatus

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
catalytic activity	IDA
hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
alpha-galactosidase activity	IDA
alpha-galactosidase activity	IMP
alpha-galactosidase activity	IBA

GO Hierarchy

molecular function

catalytic activity

hydrolase activity

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds

galactosidase activity [inference]

alpha-galactosidase activity

binding [inference]

protein binding

signaling receptor binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

galactosidase

Functional Category

G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
alpha-galactosidase activity
galactosidase activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity

Displaying **all 6** entries
InterPro
Aldolase-type TIM barrel
Alpha galactosidase, C-terminal beta sandwich domain
Glycoside hydrolase family 27/36, conserved site
Glycoside hydrolase superfamily
Glycoside hydrolase, family 27
Glycosyl hydrolase, all-beta

Human Protein Atlas

ENSG00000102393

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K01189

Name

alpha-galactosidase [EC:3.2.1.22]

References

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R05961	3.2.1.22	G00059MO	G84224TW

Rhea

RHEA:21112

H₂O + a globoside Gb3Cer (d18:1(4E))

a β-D-Gal-(1→4)-β-D-Glc-(1↔1)-Cer(d18:1(4E)) + D-galactose

Enzyme

3.2.1.22

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:14499	Fabry disease	Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 80 in total

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HPO ID	HPO Term
HP:0000083	Renal insufficiency
HP:0000091	Abnormal renal tubule morphology
HP:0000093	Proteinuria
HP:0000100	Nephrotic syndrome
HP:0000112	Nephropathy
HP:0000179	Thick lower lip vermilion
HP:0000280	Coarse facial features
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000518	Cataract