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GBA1 glucosylceramidase beta 1 [ Pan troglodytes (chimpanzee) ]

Gene ID: 449571, updated on 17-Aug-2024

Summary

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Official Symbol
GBA1provided by VGNC
Official Full Name
glucosylceramidase beta 1provided by VGNC
Primary source
VGNC:VGNC:58837
Locus tag
CK820_G0045155
See related
Ensembl:ENSPTRG00000001416
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Pan troglodytes
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Pan
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_2024_02 current NHGRI_mPanTro3-v2.0_pri (GCF_028858775.2) 1 NC_072398.2 (93950636..93961253)
RS_2023_04 previous assembly NHGRI_mPanTro3-v1.1-hic.freeze_pri (GCF_028858775.1) 1 NC_072398.1 (137388483..137399095, complement)

Chromosome 1 - NC_072398.2Genomic Context describing neighboring genes Neighboring gene secretory carrier membrane protein 3 Neighboring gene endosomal transmembrane epsin interactor 3 Neighboring gene metaxin-1-like Neighboring gene lysosomal acid glucosylceramidase-like

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. Sequence variability of a human pseudogene. Martínez-Arias R, et al. Genome Res, 2001 Jun. PMID 11381033, Free PMC Article

GeneRIFs: Gene References Into Functions

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
Names
D-glucosyl-N-acylsphingosine glucohydrolase
SGTase
acid beta-glucosidase
beta-glucocerebrosidase
cholesterol glucosyltransferase
cholesteryl-beta-glucosidase
glucocerebrosidase
glucosidase, beta, acid
glucosidase, beta; acid (includes glucosylceramidase)
glucosylceramidase
lysosomal cholesterol glycosyltransferase
lysosomal galactosylceramidase
lysosomal glycosylceramidase
NP_001008997.1
XP_016804063.1
XP_054534791.1
XP_063667293.1
XP_063667327.1

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_001008997.1 → NP_001008997.1  lysosomal acid glucosylceramidase precursor

    See identical proteins and their annotated locations for NP_001008997.1

    Status: PROVISIONAL

    Source sequence(s)
    AF285236
    UniProtKB/Swiss-Prot
    Q9BDT0
    UniProtKB/TrEMBL
    A0A2I3S8B4, A0A2J8Q2U2, A0A663DIC6, K7AGY4
    Related
    ENSPTRP00000073066.1, ENSPTRT00000097120.1
    Conserved Domains (2) summary
    pfam02055
    Location:117 → 466
    Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain
    pfam17189
    Location:469 → 531
    Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain

RefSeqs of Annotated Genomes: GCF_028858775.2-RS_2024_02

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

Reference NHGRI_mPanTro3-v2.0_pri Primary Assembly

Genomic

  1. NC_072398.2 Reference NHGRI_mPanTro3-v2.0_pri Primary Assembly

    Range
    93950636..93961253
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_016948574.4 → XP_016804063.1  lysosomal acid glucosylceramidase isoform X1

    UniProtKB/Swiss-Prot
    Q9BDT0
    UniProtKB/TrEMBL
    A0A2I3S8B4, A0A2J8Q2U2, A0A663DIC6, K7AGY4
    Related
    ENSPTRP00000051730.4
    Conserved Domains (2) summary
    pfam02055
    Location:117 → 466
    Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain
    pfam17189
    Location:469 → 531
    Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain

  2. XM_063811223.1 → XP_063667293.1  lysosomal acid glucosylceramidase isoform X2

    UniProtKB/TrEMBL
    A0A2I3S8B4, A0A2J8Q2U0, A0A6D2XCU0, H2Q075, K7BQ28

  3. XM_063811257.1 → XP_063667327.1  lysosomal acid glucosylceramidase isoform X1

    UniProtKB/Swiss-Prot
    Q9BDT0
    UniProtKB/TrEMBL
    A0A2I3S8B4, A0A2J8Q2U2, A0A663DIC6, K7AGY4

  4. XM_054678816.2 → XP_054534791.1  lysosomal acid glucosylceramidase isoform X1

    UniProtKB/Swiss-Prot
    Q9BDT0
    UniProtKB/TrEMBL
    A0A2I3S8B4, A0A2J8Q2U2, A0A663DIC6, K7AGY4

RNA

  1. XR_010157241.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BDT0.1 GenPept UniProtKB/Swiss-Prot:Q9BDT0

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