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GLA galactosidase alpha [ Homo sapiens (human) ]

Gene ID: 2717, updated on 13-Apr-2024

Summary

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Official Symbol
GLAprovided by HGNC
Official Full Name
galactosidase alphaprovided by HGNC
Primary source
HGNC:HGNC:4296
See related
Ensembl:ENSG00000102393 MIM:300644; AllianceGenome:HGNC:4296
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GALA
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]
Expression
Ubiquitous expression in bone marrow (RPKM 16.8), placenta (RPKM 14.4) and 25 other tissues See more
Orthologs
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Genomic context

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See GLA in Genome Data Viewer
Location:
Xq22.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101397803..101407925, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99841918..99852040, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100652791..100662913, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Bruton tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29809 Neighboring gene RPL36A-HNRNPH2 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29811 Neighboring gene ribosomal protein L36a Neighboring gene heterogeneous nuclear ribonucleoprotein H2 Neighboring gene armadillo repeat containing X-linked 4 Neighboring gene peptidylprolyl isomerase A pseudogene 90

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation. Valtola K, et al. Open Heart, 2023 Mar. PMID 36927868, Free PMC Article
  2. D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis. Palaiodimou L, et al. Neurology, 2022 Nov 8. PMID 36344272
  3. A theoretical study on binding and stabilization of galactose and novel galactose analogues to the human α-galactosidase A variant causing Fabry disease. Klaewkla M, et al. Biophys Chem, 2023 Jan. PMID 36334502
  4. Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype? Nóbrega PR, et al. Neurol Sci, 2023 Jan. PMID 36094773
  5. p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease. Barman HA, et al. Anatol J Cardiol, 2022 May. PMID 35552179, Free PMC Article

See all (275) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.
    Title: GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.
  2. Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
    Title: Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
  3. Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
    Title: Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
  4. c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
    Title: c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
  5. Asn215Ser, Ala143Thr, and Arg112Cys variants in alpha-galactosidase A protein confer stability loss in Fabry's disease.
    Title: Asn215Ser, Ala143Thr, and Arg112Cys variants in α-galactosidase A protein confer stability loss in Fabry's disease.
  6. Enzymatic properties and clinical associations of serum alpha-galactosidase A in Parkinson's disease.
    Title: Enzymatic properties and clinical associations of serum alpha-galactosidase A in Parkinson's disease.
  7. Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.
    Title: Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.
  8. All reported non-canonical splice site variants in GLA cause aberrant splicing.
    Title: All reported non-canonical splice site variants in GLA cause aberrant splicing.
  9. Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.
    Title: Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.
  10. D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.
    Title: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.
Submit: New GeneRIF Correction See all GeneRIFs (174)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in GLA that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Angiokeratoma corporis diffusum
MedGen: C0002986 OMIM: 301500 GeneReviews: Fabry Disease
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-03-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-24)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-galactosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-galactosidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alpha-galactosidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables catalytic activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables galactoside binding IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables signaling receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in glycoside catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycosphingolipid catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glycosphingolipid catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycosphingolipid catabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in glycosylceramide catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of nitric oxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of nitric-oxide synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in oligosaccharide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in oligosaccharide metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
located_in lysosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in lysosome TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
alpha-galactosidase A
Names
agalsidase alfa
alpha-D-galactosidase A
alpha-D-galactoside galactohydrolase 1
alpha-gal A
galactosylgalactosylglucosylceramidase GLA
melibiase
NP_000160.1
NP_001393676.1
NP_001393677.1
NP_001393678.1
XP_047297946.1
XP_054182808.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007119.1 RefSeqGene

    Range
    4951..15173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_672

mRNA and Protein(s)

  1. NM_000169.3 → NP_000160.1  alpha-galactosidase A isoform b precursor

    See identical proteins and their annotated locations for NP_000160.1

    Status: REVIEWED

    Source sequence(s)
    AL035422, BC002689, DB370480
    Consensus CDS
    CCDS14484.1
    UniProtKB/Swiss-Prot
    P06280, Q6LER7
    UniProtKB/TrEMBL
    Q53HF3, Q53Y83
    Related
    ENSP00000218516.4, ENST00000218516.4
    Conserved Domains (1) summary
    pfam16499
    Location:39 → 411
    Melibiase_2; Alpha galactosidase A

  2. NM_001406747.1 → NP_001393676.1  alpha-galactosidase A isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AL035422
    UniProtKB/TrEMBL
    A0A3B3IUC4
    Related
    ENSP00000498186.1, ENST00000649178.1

  3. NM_001406748.1 → NP_001393677.1  alpha-galactosidase A isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    AL035422
    UniProtKB/TrEMBL
    A0A6Q8PHD1
    Related
    ENSP00000502629.2, ENST00000674634.2

  4. NM_001406749.1 → NP_001393678.1  alpha-galactosidase A isoform d precursor

    Status: REVIEWED

    Source sequence(s)
    AL035422

RNA

  1. NR_164783.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL035422
    Related
    ENST00000493905.6

  2. NR_176252.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL035422
    Related
    ENST00000480513.6

  3. NR_176253.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL035422
    Related
    ENST00000486121.7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    101397803..101407925 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441990.1 → XP_047297946.1  alpha-galactosidase A isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    99841918..99852040 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326833.1 → XP_054182808.1  alpha-galactosidase A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P06280.1 GenPept UniProtKB/Swiss-Prot:P06280

Gene LinkOut

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