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    GLA galactosidase alpha [ Homo sapiens (human) ]

    Gene ID: 2717, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101397803..101407925, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99841918..99852040, complement)
    RS_2024_09 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. Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease. Colomba P, et al. Clin Biochem, 2012 Jul. PMID 22465271
    2. p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males. Nakamura K, et al. Eur J Neurol, 2014. PMID 23724928
    3. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. Redonnet-Vernhet I, et al. J Med Genet, 1996 Aug. PMID 8863162, Free PMC Article
    4. Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P. Fukutomi M, et al. J Cardiol, 2013 Jul. PMID 23608164
    5. Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Davies JP, et al. Eur J Hum Genet, 1996. PMID 8875188

    See all (293) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of a novel nonsense mutation in alpha-galactosidase A that causes Fabry disease in a Chinese family.
      Title: Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family.
    2. D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet?
      Title: D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet?
    3. GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.
      Title: GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (176)

    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
    Fabry disease
    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)

    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 lipid storage IEA
    Inferred from Electronic Annotation
    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 
    involved_in platelet aggregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of axon diameter IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of locomotion involved in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sleep IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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