GLA (galactosidase alpha)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2717
Gene name Gene Name - the full gene name approved by the HGNC.
Galactosidase alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLA
Synonyms (NCBI Gene) Gene synonyms aliases
GALA
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300644 4296 ENSG00000102393
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Sequence length 429
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Galactose metabolism
Glycerolipid metabolism
Sphingolipid metabolism
Glycosphingolipid biosynthesis - globo and isoglobo series
Metabolic pathways
Lysosome 		  Glycosphingolipid metabolism
Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
cardiomyopathy Cardiomyopathy rs886039136, rs28935197, rs397515870, rs199473684 N/A
Fabry disease fabry disease rs398123205, rs869312313, rs28935489, rs869312396, rs797044613, rs104894839, rs797044776, rs1555984869, rs869312215, rs1569303213, rs398123226, rs886044843, rs1603037764, rs869312324, rs28935196
View all (201 more)		 N/A
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy rs869312381 N/A
Hypertrophic Cardiomyopathy Primary familial hypertrophic cardiomyopathy rs1603038411, rs104894828, rs1603037717 N/A
Show/Hide Text Mining Associations (93)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 39528318
Acrofacial dysostosis Nager type Associate 32571412
Actin Accumulation Myopathy Associate 26334996
Albuminuria Associate 31519519
Arterial Occlusive Diseases Associate 38295534
Atrial Fibrillation Associate 31519519, 40557493
Atrioventricular Block Associate 18154965, 23608164, 31519519, 31949022
Brain Ischemia Associate 34905550
Calcinosis Associate 16505034
Carcinoma Hepatocellular Associate 24806207