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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

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Molecular Biology Databases
Research Materials