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    Gla galactosidase, alpha [ Rattus norvegicus (Norway rat) ]

    Gene ID: 363494, updated on 2-Nov-2024

    Summary

    Official Symbol
    Glaprovided by RGD
    Official Full Name
    galactosidase, alphaprovided by RGD
    Primary source
    RGD:1589721
    See related
    EnsemblRapid:ENSRNOG00000011513 AllianceGenome:RGD:1589721
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables alpha-galactosidase activity and galactoside binding activity. Involved in several processes, including glycosphingolipid catabolic process; platelet aggregation; and regulation of axon diameter. Predicted to be located in Golgi apparatus; extracellular space; and lysosome. Predicted to be active in cytoplasm. Used to study Fabry disease and lysosomal storage disease. Human ortholog(s) of this gene implicated in Fabry disease. Orthologous to human GLA (galactosidase alpha). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Adrenal (RPKM 132.8), Kidney (RPKM 126.5) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Gla in Genome Data Viewer
    Location:
    Xq32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (102062497..102073915, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (97769227..97780646, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (105405915..105417331, complement)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene Bruton tyrosine kinase Neighboring gene ribosomal protein L36A Neighboring gene heterogeneous nuclear ribonucleoprotein H2 Neighboring gene cytochrome c oxidase subunit 7B, pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    General gene information

    Markers

    Gene Ontology Provided by RGD

    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 alpha-galactosidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables catalytic activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables galactoside binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within aorta development ISO
    Inferred from Sequence Orthology
    more info
     
    NOT acts_upstream_of_or_within bone mineralization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glycoside catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycosphingolipid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycosphingolipid catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within glycosylceramide catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lipid storage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of nitric oxide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of nitric-oxide synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in oligosaccharide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in oligosaccharide metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in platelet activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of axon diameter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of locomotion involved in locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sleep IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    alpha-galactosidase A
    NP_001102290.2

    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.

    mRNA and Protein(s)

    1. NM_001108820.3NP_001102290.2  alpha-galactosidase A precursor

      See identical proteins and their annotated locations for NP_001102290.2

      Status: VALIDATED

      Source sequence(s)
      CR468644, FM042657, FM104174, FM128994, FM134560, FM135509, FM137073
      UniProtKB/TrEMBL
      A6IVG1, D3ZJF9
      Related
      ENSRNOP00000015494.6, ENSRNOT00000015494.9
      Conserved Domains (1) summary
      pfam16499
      Location:41413
      Melibiase_2; Alpha galactosidase A

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      102062497..102073915 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)