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    GLB1 galactosidase beta 1 [ Felis catus (domestic cat) ]

    Gene ID: 493927, updated on 17-Aug-2024

    Summary

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    Official Symbol
    GLB1
    Official Full Name
    galactosidase beta 1
    Primary source
    VGNC:VGNC:97179
    See related
    EnsemblRapid:ENSFCTG00005004502
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Felis catus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
    Also known as
    BGAL
    Orthologs
    human mouse all
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    Genomic context

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    See GLB1 in Genome Data Viewer
    Location:
    chromosome: C2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    105 current F.catus_Fca126_mat1.0 (GCF_018350175.1) C2 NC_058376.1 (156279158..156398990, complement)
    104 previous assembly Felis_catus_9.0 (GCF_000181335.3) C2 NC_018731.3 (158910838..158998898, complement)

    Chromosome C2 - NC_058376.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC123380197 Neighboring gene uncharacterized LOC111562328 Neighboring gene C-C motif chemokine receptor 4 Neighboring gene uncharacterized LOC123380196 Neighboring gene transmembrane protein with metallophosphoesterase domain Neighboring gene cartilage associated protein Neighboring gene sushi domain containing 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. Uddin MM, et al. J Vet Med Sci, 2013. PMID 23123943
    2. Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s. Uddin MM, et al. J Feline Med Surg, 2012 Dec. PMID 22772479, Free PMC Article
    3. Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Martin DR, et al. Mol Genet Metab, 2008 Jun. PMID 18353697, Free PMC Article
    4. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    5. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The present study found the homozygous c.1448G>C mutation of the GLB1 gene in 2 apparent littermate native kittens in Bangladesh that were exhibiting neurological signs of GM1 gangliosidosis.
      Title: Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study.
    2. The mutation was confirmed using DNA extracted from stored paraffin-embedded brain tissue by a direct sequencing method and a polymerase chain reaction-restriction fragment length polymorphism assay
      Title: Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.
    3. Mutation responsible for feline G(M1) gangliosidosis was identified in beta-galactosidase resulting in an amino acid substitution at arginine 483, known to cause G(M1) gangliosidosis in humans.
      Title: Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables beta-galactosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in vacuole IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    beta-galactosidase
    Names
    acid beta-galactosidase
    lactase
    lysosomal beta-galactosidase
    NP_001009860.1
    XP_044892255.1

    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.

    mRNA and Protein(s)

    1. NM_001009860.1 → NP_001009860.1  beta-galactosidase precursor

      See identical proteins and their annotated locations for NP_001009860.1

      Status: PROVISIONAL

      Source sequence(s)
      AF006749
      UniProtKB/Swiss-Prot
      O18898, O19015
      UniProtKB/TrEMBL
      M3WZ71
      Related
      ENSFCTP00005007870.1, ENSFCTT00005012216.1
      Conserved Domains (2) summary
      pfam01301
      Location:41 → 356
      Glyco_hydro_35; Glycosyl hydrolases family 35
      pfam13364
      Location:527 → 621
      BetaGal_dom4_5; Beta-galactosidase jelly roll domain

    RefSeqs of Annotated Genomes: Felis catus Annotation Release 105 details...Open this link in a new tab

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

    Reference F.catus_Fca126_mat1.0 Primary Assembly

    Genomic

    1. NC_058376.1 Reference F.catus_Fca126_mat1.0 Primary Assembly

      Range
      156279158..156398990 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_045036320.1 → XP_044892255.1  beta-galactosidase isoform X1

      UniProtKB/TrEMBL
      M3WZ71
      Related
      ENSFCTP00005007933.1, ENSFCTT00005012279.1
      Conserved Domains (1) summary
      PLN03059
      Location:29 → 354
      PLN03059; beta-galactosidase; Provisional

    RNA

    1. XR_006584616.1 RNA Sequence

    2. XR_006584617.1 RNA Sequence

    3. XR_006584615.1 RNA Sequence

    4. XR_006584619.1 RNA Sequence

    5. XR_006584618.1 RNA Sequence

    6. XR_006584621.1 RNA Sequence

    7. XR_006584620.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O19015.1 GenPept UniProtKB/Swiss-Prot:O19015

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials