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GBA3 glucosylceramidase beta 3 (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 57733, updated on 24-Nov-2020

Summary

Official Symbol
GBA3provided by HGNC
Official Full Name
glucosylceramidase beta 3 (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:19069
See related
Ensembl:ENSG00000249948 MIM:606619
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CBG; GLUC; KLRP; CBGL1
Summary
The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Expression
Biased expression in duodenum (RPKM 80.7), small intestine (RPKM 79.2) and 3 other tissues See more
Orthologs

Genomic context

See GBA3 in Genome Data Viewer
Location:
4p15.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (22692937..22819569)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (22694537..22821198)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374520 Neighboring gene ribosomal protein S27 pseudogene 13 Neighboring gene uncharacterized LOC107986265 Neighboring gene uncharacterized LOC105374521 Neighboring gene cell division cycle 42 pseudogene 6 Neighboring gene uncharacterized LOC105374524 Neighboring gene uncharacterized LOC105374523 Neighboring gene ret finger protein like 4A pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
env Glucosidase inhibitors inhibit the syncytium formation between HIV-infected and CD4-expressing cells and interfere with HIV-1 infectivity, indicating processing of HIV-1 gp120 by glucosidase is important for virus replication PubMed
env HIV-1 gp120 is extremely heavily glycosylated (31-36 N-linked glycans per molecule) by glucosidase PubMed
Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104276, MGC126878

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-galactosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-galactosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
beta-glucosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-glucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
galactosylceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
glucosylceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
glucosylceramidase activity TAS
Traceable Author Statement
more info
 
glycosylceramidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycosylceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
scopolin beta-glucosidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
catalytic complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cytosolic beta-glucosidase
Names
cytosolic GCase
cytosolic beta-glucosidase-like protein 1
cytosolic glycosylceramidase
glucosidase beta acid 3
glucosidase, beta, acid 3 (cytosolic)
klotho-related protein

NCBI Reference Sequences (RefSeq)

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_001128432.2NP_001121904.1  cytosolic beta-glucosidase isoform b

    See identical proteins and their annotated locations for NP_001121904.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, coding) lacks two alternate exons resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (b) has the same N- and C-termini but is shorter compared to isoform a. This variant is produced from the more frequently occurring functional allele of this gene.
    Source sequence(s)
    BC029362, BP383134, CB163648
    UniProtKB/Swiss-Prot
    Q9H227
    Conserved Domains (1) summary
    cl23725
    Location:397
    Glyco_hydro_1; Glycosyl hydrolase family 1
  2. NM_001277225.1NP_001264154.1  cytosolic beta-glucosidase isoform c

    See identical proteins and their annotated locations for NP_001264154.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, coding) contains an alternate 5' exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a. This variant is produced from the more frequently occurring functional allele of this gene.
    Source sequence(s)
    AK298377, BC029362, BC109377, CB163648
    UniProtKB/Swiss-Prot
    Q9H227
    UniProtKB/TrEMBL
    B7Z536
    Conserved Domains (1) summary
    cl23725
    Location:21465
    Glyco_hydro_1; Glycosyl hydrolase family 1
  3. NM_020973.4NP_066024.1  cytosolic beta-glucosidase isoform a

    See identical proteins and their annotated locations for NP_066024.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, coding) represents the longest transcript and encodes isoform a. This variant is produced from the more frequently occurring functional allele of this gene.
    Source sequence(s)
    AF323990, BC029362, BC109377, BP383134, CB163648
    UniProtKB/Swiss-Prot
    Q9H227
    UniProtKB/TrEMBL
    A8K9N1
    Conserved Domains (1) summary
    cl23725
    Location:3464
    Glyco_hydro_1; Glycosyl hydrolase family 1

RNA

  1. NR_102355.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, non-coding) represents the longest transcript. This variant is represented as non-coding because it contains a premature stop codon compared to variant 1, and it therefore does not produce a functional protein, as indicated by experimental data in PubMed ID:20728381. This variant is produced from the non-functional reference genome allele.
    Source sequence(s)
    AF323990, BC029362, BC109377, BP383134, CB163648
    Related
    ENST00000508166.5
  2. NR_102356.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, non-coding) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because it contains a premature stop codon compared to variant 1, and it therefore does not produce a functional protein, as indicated by experimental data in PubMed ID:20728381. This variant is produced from the non-functional reference genome allele.
    Source sequence(s)
    BC029362, CB163648
    Related
    ENST00000503442.1
  3. NR_102357.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, non-coding) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it contains a premature stop codon compared to variant 1, and it therefore does not produce a functional protein, as indicated by experimental data in PubMed ID:20728381. This variant is produced from the non-functional reference genome allele.
    Source sequence(s)
    AK298377, BC029362, BC109377, CB163648
    Related
    ENST00000511446.2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    22692937..22819569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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