Gba1b Glucocerebrosidase 1b [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Gba1bprovided by FlyBase
Official Full Name: Glucocerebrosidase 1bprovided by FlyBase
Primary source: FLYBASE:FBgn0051414
Locus tag: Dmel_CG31414
See related: AllianceGenome:FB:FBgn0051414
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: CG10299; CG31414; dGba1; dGBA1b; Dmel\CG31414; GBA; GBA1b; gba2
Summary: Enables glucosylceramidase activity. Involved in several processes, including adult locomotory behavior; cellular response to unfolded protein; and determination of adult lifespan. Is expressed in adult head. Used to study Gaucher's disease; Lewy body dementia; and Parkinson's disease. Human ortholog(s) of this gene implicated in Gaucher's disease (multiple); Lewy body dementia; Parkinson's disease (multiple); and Parkinsonism. Orthologous to human GBA1 (glucosylceramidase beta 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 95A9-95A10; 3-80 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3R	NT_033777.3 (23704804..23708512)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3R	NT_033777.2 (19530526..19534234)

Chromosome 3R - NT_033777.3 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles.
Title: Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles.
Study findings suggest that the most important pathological consequence of Gba1b (Drosophila glucosylceramidase beta ortholog) loss of function is not failure of autophagic protein degradation but excessive production of extracellular vesicles.
Title: Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles.
Minos insertion mutant glucocerebrosidase 1a CG31148 and its RNAi line did not show severe phenotype as observed in glucocerebrosidase 1b CG31414 gene mutation, suggesting that CG31414 gene mutation might be useful for unraveling the molecular mechanism of Gaucher's disease.
Title: Minos-insertion mutant of the Drosophila GBA gene homologue showed abnormal phenotypes of climbing ability, sleep and life span with accumulation of hydroxy-glucocerebroside.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dm1714 (e-PCR)
- UniSTS:61154

Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables glucosylceramidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucosylceramidase activity	IEA Inferred from Electronic Annotation more info
enables glucosylceramidase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables glucosylceramidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glucosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in adult locomotory behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to unfolded protein	IGI Inferred from Genetic Interaction more info	PubMed
involved_in determination of adult lifespan	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glucosylceramide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in memory	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron cellular homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in sphingolipid metabolic process	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: glucocerebrosidase 1b

Names: CG31414-PB; CG31414-PC; Gba1b-PB; Gba1b-PC; glucosylceramidase

NP_001097888.1

EC 3.2.1.45

NP_001262880.1

EC 3.2.1.45

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NT_033777.3 Reference assembly

Range

23704804..23708512

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001275951.1 → NP_001262880.1 glucocerebrosidase 1b, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001262880.1

Status: REVIEWED

UniProtKB/TrEMBL

Q4V4F5, Q8IMY3

Conserved Domains (1) summary

cl23815
Location:28 → 559

Glyco_hydro_30; O-Glycosyl hydrolase family 30
NM_001104418.2 → NP_001097888.1 glucocerebrosidase 1b, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001097888.1

Status: REVIEWED

UniProtKB/TrEMBL

Q4V4F5, Q8IMY3

Conserved Domains (1) summary

cl23815
Location:28 → 559

Glyco_hydro_30; O-Glycosyl hydrolase family 30