Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	2717
Gene name	Galactosidase alpha
Gene symbol	GLA
Synonyms (NCBI Gene)	GALA
Chromosome	X
Chromosome location	Xq22.1
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 galacto

28 Show/Hide all (28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039851	hsa-miR-615-3p	CLASH	23622248
MIRT039206	hsa-miR-769-5p	CLASH	23622248
MIRT519448	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT519447	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT519445	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT519446	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT519444	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT519443	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT519442	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT519441	hsa-miR-548s	PAR-CLIP	23446348
MIRT519440	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT519439	hsa-miR-588	PAR-CLIP	23446348
MIRT519438	hsa-miR-4435	PAR-CLIP	23446348
MIRT519437	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT519436	hsa-miR-5096	PAR-CLIP	23446348
MIRT519448	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT519447	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT519445	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT519446	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT519444	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT519443	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT519442	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT519441	hsa-miR-548s	PAR-CLIP	23446348
MIRT519440	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT519439	hsa-miR-588	PAR-CLIP	23446348
MIRT519438	hsa-miR-4435	PAR-CLIP	23446348
MIRT519437	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT519436	hsa-miR-5096	PAR-CLIP	23446348

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IDA	39940
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004557	Function	Alpha-galactosidase activity	IBA
GO:0004557	Function	Alpha-galactosidase activity	IDA	39940, 8804427, 27211852
GO:0004557	Function	Alpha-galactosidase activity	IEA
GO:0004557	Function	Alpha-galactosidase activity	IMP	10838196, 16372133
GO:0005102	Function	Signaling receptor binding	IDA	1332979
GO:0005515	Function	Protein binding	IPI	1332979, 6313412, 21949853, 33961781
GO:0005576	Component	Extracellular region	IDA	3029062
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IMP	1332979
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IMP	1332979
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IMP	1332979
GO:0005764	Component	Lysosome	TAS	3029062
GO:0005794	Component	Golgi apparatus	IMP	1332979
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009311	Process	Oligosaccharide metabolic process	IBA
GO:0009311	Process	Oligosaccharide metabolic process	IDA	39940
GO:0016020	Component	Membrane	IEA
GO:0016139	Process	Glycoside catabolic process	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	TAS	7911050
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	6256390
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045019	Process	Negative regulation of nitric oxide biosynthetic process	ISS
GO:0046477	Process	Glycosylceramide catabolic process	ISS
GO:0046479	Process	Glycosphingolipid catabolic process	IDA	8804427
GO:0046479	Process	Glycosphingolipid catabolic process	IEA
GO:0046479	Process	Glycosphingolipid catabolic process	IMP	10838196
GO:0046479	Process	Glycosphingolipid catabolic process	TAS	2160973
GO:0051001	Process	Negative regulation of nitric-oxide synthase activity	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
300644	4296	ENSG00000102393

P06280

Protein name

Alpha-galactosidase A (EC 3.2.1.22) (Alpha-D-galactosidase A) (Alpha-D-galactoside galactohydrolase) (Galactosylgalactosylglucosylceramidase GLA) (Melibiase) (Agalsidase)

Protein function

Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome.

PDB

1R46 , 1R47 , 3GXN , 3GXP , 3GXT , 3HG2 , 3HG3 , 3HG4 , 3HG5 , 3LX9 , 3LXA , 3LXB , 3LXC , 3S5Y , 3S5Z , 3TV8 , 4NXS , 6IBK , 6IBM , 6IBR , 6IBT , 8K7D , 8K7E , 8K7F , 8K7G , 8K7H , 8K7I , 8K7J , 8K7K , 8K7L , 9AVS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16499	Melibiase_2	39 → 322	Alpha galactosidase A	Family
PF17450	Melibiase_2_C	325 → 411	Alpha galactosidase A C-terminal beta sandwich domain	Domain

Sequence

MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEP
DSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQL
ANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENL
ADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDL
RHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIG
GPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENT
MQMSLKDLL

Sequence length

429

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Galactose metabolism	Glycosphingolipid metabolism
Glycerolipid metabolism	Neutrophil degranulation
Sphingolipid metabolism
Glycosphingolipid biosynthesis - globo and isoglobo series
Metabolic pathways
Lysosome

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (11)
Cardiomyopathy	Likely pathogenic; Pathogenic	rs869312311, rs28935197, rs199473684, rs397515870, rs886039136	RCV001799418 RCV001798000 RCV000769537 RCV000769540 RCV000769542	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1928323615, rs2147487910, rs2147487830, rs869312429, rs727503949, rs398123224, rs1183869568, rs730880441, rs730880440, rs730880450, rs730880454, rs2520895216, rs869312310, rs2520849107, rs2520852645 View all (33 more)	RCV006347710 RCV004629626 RCV003303377 RCV002423245 RCV005572276 View all (43 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fabry disease	Likely pathogenic; Pathogenic	rs1928194190, rs398123208, rs1928323615, rs2147471863, rs869312408, rs2147472050, rs28935485, rs869312305, rs2147480697, rs2147487910, rs2147472959, rs2147470514, rs2147477659, rs2147477845, rs387906483 View all (424 more)	RCV001321823 RCV001328356 RCV001341700 RCV001358705 RCV001358704 View all (512 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fabry disease, cardiac variant	Likely pathogenic; Pathogenic	rs869312142, rs104894828, rs104894830, rs28935485, rs104894846, rs104894847, rs199473684, rs886044878	RCV001636724 RCV000011461 RCV000011464 RCV000011468 RCV000011510 RCV000011511 RCV000011515 RCV005235760 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLA-related disorder	Likely pathogenic; Pathogenic	rs869312400, rs730880440, rs730880450, rs869312458, rs869312141, rs797044613, rs104894827, rs104894843, rs199473684, rs2520864961, rs104894849, rs398123215	RCV003403751 RCV004731317 RCV004752764 RCV003983408 RCV003417754 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs727504348, rs28935197, rs199473684, rs869312381	RCV000844704 RCV000844705 RCV000844706 RCV001270059	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migalastat response	Likely pathogenic; Pathogenic	rs727505292, rs869312163, rs869312160, rs869312158, rs28935488, rs869312154, rs104894840, rs869312151, rs869312149, rs869312148, rs869312146, rs869312142, rs869312141, rs869312140, rs869312139 View all (5 more)	RCV000209285 RCV000209758 RCV000209806 RCV000209037 RCV000209621 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome	Pathogenic	rs2147477422	RCV001849885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2147475773, rs869312149, rs868966337	RCV005925606 RCV005893612 RCV005926800	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs104894828, rs1603037717, rs1603038411	RCV000845380 RCV000845520 RCV000845515	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs869312444, rs868923658	RCV005908931 RCV005908932	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (9)
ANGIOKERATOMA	—	CTD	19925601	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary coproporphyria	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 1	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steroid-resistant nephrotic syndrome	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GLA (galactosidase alpha)

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