Gene/Proteome Database (LMPD)

LMPD ID
LMP000589
Gene ID
2717
Species
Homo sapiens (Human)
Gene Name
galactosidase, alpha
Gene Symbol
GLA
Synonyms
GALA
Alternate Names
alpha-galactosidase A; melibiase; alpha-gal A; agalsidase alfa; alpha-D-galactosidase A; alpha-D-galactoside galactohydrolase 1
Chromosome
X
Map Location
Xq22
EC Number
3.2.1.22
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]
Orthologs
View orthologs and multiple alignments for GLA

Proteins

alpha-galactosidase A precursor
Refseq ID NP_000160
Protein GI 4504009
UniProt ID P06280
mRNA ID NM_000169
Length 429
RefSeq Status REVIEWED
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL
sig_peptide: 1..31 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 3433 peptide sequence: MQLRNPELHLGCALALRFLALVSWDIPGARA mat_peptide: 32..429 product: alpha-galactosidase A calculated_mol_wt: 45352 peptide sequence: LDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL

Gene Information

Entrez Gene ID
2717
Gene Name
galactosidase, alpha
Gene Symbol
GLA
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IMP:UniProtKB C Golgi apparatus
GO:0005737 IMP:UniProtKB C cytoplasm
GO:0005576 IDA:UniProtKB C extracellular region
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0043202 TAS:Reactome C lysosomal lumen
GO:0005764 IMP:UniProtKB C lysosome
GO:0004557 IDA:UniProtKB F alpha-galactosidase activity
GO:0003824 IDA:UniProtKB F catalytic activity
GO:0016936 IEA:Ensembl F galactoside binding
GO:0016787 TAS:UniProtKB F hydrolase activity
GO:0042803 IDA:UniProtKB F protein homodimerization activity
GO:0052692 IEA:UniProtKB-EC F raffinose alpha-galactosidase activity
GO:0005102 IDA:UniProtKB F receptor binding
GO:0016139 IBA:RefGenome P glycoside catabolic process
GO:0046479 TAS:UniProtKB P glycosphingolipid catabolic process
GO:0006687 TAS:Reactome P glycosphingolipid metabolic process
GO:0046477 ISS:UniProtKB P glycosylceramide catabolic process
GO:0045019 ISS:UniProtKB P negative regulation of nitric oxide biosynthetic process
GO:0051001 ISS:UniProtKB P negative regulation of nitric-oxide synthase activity
GO:0009311 IDA:UniProtKB P oligosaccharide metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006665 TAS:Reactome P sphingolipid metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00603 Glycosphingolipid biosynthesis - globo series
hsa04142 Lysosome
hsa00600 Sphingolipid metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_116105 Glycosphingolipid metabolism

Domain Information

InterPro Annotations

Accession Description
IPR013785 Aldolase-type TIM barrel
IPR017853 Glycoside hydrolase superfamily
IPR000111 Glycoside hydrolase, clan GH-D
IPR002241 Glycoside hydrolase, family 27
IPR013780 Glycosyl hydrolase, family 13, all-beta

UniProt Annotations

Entry Information

Gene Name
galactosidase, alpha
Protein Entry
AGAL_HUMAN
UniProt ID
P06280
Species
Human

Comments

Comment Type Description
Catalytic Activity Hydrolysis of terminal, non-reducing alpha-D- galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids.
Disease Fabry disease (FD) [MIM
Pharmaceutical Available under the names Replagal (from Shire) and Fabrazyme (from Genzyme). Used as a long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease. The differences between Replagal (also known as agalsidase alpha) and Fabrazyme (also known as agalsidase beta) lies in the glycosylation patterns. Agalsidase beta is produced in the hamster CHO cell line while agalsidase alpha is produced in human cell lines.
Rna Editing Modified_positions=396 ; Note=Partially edited.;
Similarity Belongs to the glycosyl hydrolase 27 family.
Subcellular Location Lysosome.
Subunit Homodimer.

Identical and Related Proteins

Unique RefSeq proteins for LMP000589 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4504009 RefSeq NP_000160 429 alpha-galactosidase A precursor

Identical Sequences to LMP000589 proteins

Reference Database Accession Length Protein Name
GI:4504009 GenBank AEF60816.1 429 Sequence 13 from patent US 7935336
GI:4504009 GenBank AEP47304.1 429 Sequence 68 from patent US 8008252
GI:4504009 GenBank AEU54349.1 429 Sequence 68 from patent US 8063015
GI:4504009 GenBank AEW42241.1 429 Sequence 68 from patent US 8076292
GI:4504009 GenBank AGA40516.1 429 Sequence 13 from patent US 8323640
GI:4504009 GenBank AIB01731.1 429 Sequence 13 from patent US 8668907

Related Sequences to LMP000589 proteins

Reference Database Accession Length Protein Name
GI:4504009 DBBJ BAD96347.1 429 galactosidase, alpha variant, partial [Homo sapiens]
GI:4504009 EMBL CAE85447.1 430 unnamed protein product, partial [Homo sapiens]
GI:4504009 GenBank AAP36507.1 430 Homo sapiens galactosidase, alpha, partial [synthetic construct]
GI:4504009 GenBank AAX29007.1 430 galactosidase alpha, partial [synthetic construct]
GI:4504009 GenBank AAY71886.1 435 Sequence 6 from patent US 6887696
GI:4504009 GenBank AAY72532.1 435 Sequence 6 from patent US 6890748