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GBA1 glucosylceramidase beta 1 [ Ovis aries (sheep) ]

Gene ID: 101117379, updated on 8-Mar-2024

Summary

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Gene symbol
GBA1
Gene description
glucosylceramidase beta 1
See related
EnsemblRapid:ENSOARG00020010312
Gene type
protein coding
RefSeq status
MODEL
Organism
Ovis aries
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
Also known as
GBA
Orthologs
human mouse all
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Genomic context

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See GBA1 in Genome Data Viewer
Location:
chromosome: 1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current ARS-UI_Ramb_v3.0 (GCF_016772045.2) 1 NC_056054.1 (105400242..105408943, complement)

Chromosome 1 - NC_056054.1Genomic Context describing neighboring genes Neighboring gene mucin 1, cell surface associated Neighboring gene uncharacterized LOC121820477 Neighboring gene thrombospondin 3 Neighboring gene metaxin 1 Neighboring gene endosomal transmembrane epsin interactor 3 Neighboring gene secretory carrier membrane protein 3

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_056054.1 Chromosome 1 Reference ARS-UI_Ramb_v3.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep. Zhou H, et al. Anim Genet, 2017 Dec. PMID 29023809
  2. 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
  3. 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. A nucleotide substitution in exon 8 of GBA is associated with Gaucher disease in sheep
    Title: A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables glucosylceramidase activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in glucosylceramide catabolic process IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
lysosomal acid glucosylceramidase

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_016772045.2-RS_2023_10

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

Reference ARS-UI_Ramb_v3.0 Primary Assembly

Genomic

  1. NC_056054.1 Reference ARS-UI_Ramb_v3.0 Primary Assembly

    Range
    105400242..105408943 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_042255054.1 → XP_042110988.1  lysosomal acid glucosylceramidase isoform X1

    UniProtKB/TrEMBL
    A0A836D7H3, W5P1A5
    Related
    ENSOARP00020013132.1, ENSOART00020015879.2
    Conserved Domains (2) summary
    pfam17189
    Location:469 → 531
    Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain
    cl23815
    Location:117 → 466
    Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain

  2. XM_042255071.1 → XP_042111005.1  lysosomal acid glucosylceramidase isoform X2

    UniProtKB/TrEMBL
    A0A836D7H3
    Related
    ENSOARP00020059367.1, ENSOART00020067825.1
    Conserved Domains (1) summary
    cl23815
    Location:117 → 462
    Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain

RNA

  1. XR_001042147.4 RNA Sequence

  2. XR_003591007.2 RNA Sequence

  3. XR_001042146.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version

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