Gene

gba

ID

ZDB-GENE-100922-270

Name

glucosidase, beta, acid

Symbol

gba Nomenclature History

Previous Names

gba1 (1)
lysosomal glucocerebrosidase (1)
si:dkey-19n13.4

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Enables glucosylceramidase activity. Involved in glucosylceramide catabolic process. Acts upstream of or within neuron cellular homeostasis; regulation of ossification; and swimming. Predicted to be located in lysosomal membrane. Is expressed in brain; fin; and liver. Used to study Gaucher'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 GBA (glucosylceramidase beta).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 20 figures from 5 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gba Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Gaucher's disease perinatal lethal	Alliance	Gaucher disease, perinatal lethal	608013
Gaucher's disease type I	Alliance	Gaucher disease, type I	230800
Gaucher's disease type II	Alliance	Gaucher disease, type II	230900
Gaucher's disease type III	Alliance	Gaucher disease, type III	231000
Gaucher's disease type IIIC	Alliance	Gaucher disease, type IIIC	231005
late onset Parkinson's disease	Alliance	{Parkinson disease, late-onset, susceptibility to}	168600
Lewy body dementia	Alliance	{Lewy body dementia, susceptibility to}	127750

Associated With gba Via Experimental Models

Human Disease	Fish	Conditions	Citations
Gaucher's disease	gba^sh391/sh391 (TL)	standard conditions	Keatinge et al., 2015
Gaucher's disease	gba^{sa1621/sa1621} (AB)	standard conditions	Costa et al., 2020
Gaucher's disease	gba^sh391/sh391	standard conditions	Watson et al., 2019

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR033452	Glycosyl hydrolase family 30, beta sandwich domain
Domain	IPR033453	Glycosyl hydrolase family 30, TIM-barrel domain
Family	IPR001139	Glycoside hydrolase family 30
Homologous_superfamily	IPR017853	Glycoside hydrolase superfamily

Domain Details Per Protein

Protein	Length	Glycoside hydrolase family 30	Glycoside hydrolase superfamily	Glycosyl hydrolase family 30, beta sandwich domain	Glycosyl hydrolase family 30, TIM-barrel domain
UniProtKB:E7EZM1 InterPro	518

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Length (nt)	Analysis
mRNA	gba-201 (1) Ensembl	4132 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	gba-002 (1) Ensembl	543 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations