GBA1 glucosylceramidase beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GBA1provided by HGNC
Official Full Name: glucosylceramidase beta 1provided by HGNC
Primary source: HGNC:HGNC:4177
See related: Ensembl:ENSG00000177628 MIM:606463; AllianceGenome:HGNC:4177
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: GBA; GCB; GLUC
Summary: This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Expression: Ubiquitous expression in thyroid (RPKM 22.8), placenta (RPKM 20.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (155234452..155244627, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (154373009..154383185, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (155204243..155214418, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease.
Title: GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease.
Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases.
Title: Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases.
Peripheral Upregulation of Parkinson's Disease-Associated Genes Encoding alpha-Synuclein, beta-Glucocerebrosidase, and Ceramide Glucosyltransferase in Major Depression.
Title: Peripheral Upregulation of Parkinson's Disease-Associated Genes Encoding α-Synuclein, β-Glucocerebrosidase, and Ceramide Glucosyltransferase in Major Depression.
Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.
Title: Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.
Title: The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.
Comparing the effects of GBA variants and onset age on clinical features and progression in Parkinson's disease.
Title: Comparing the effects of GBA variants and onset age on clinical features and progression in Parkinson's disease.
The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.
Title: The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.
Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis.
Title: Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis.
IPSC-Derived Astrocytes Contribute to In Vitro Modeling of Parkinson's Disease Caused by the GBA1 N370S Mutation.
Title: IPSC-Derived Astrocytes Contribute to In Vitro Modeling of Parkinson's Disease Caused by the GBA1 N370S Mutation.
Cognitive Effects of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease with GBA1 Pathogenic Variants.
Title: Cognitive Effects of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease with GBA1 Pathogenic Variants.

Submit: New GeneRIF Correction See all GeneRIFs (384)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Gaucher disease MedGen: C0017205 GeneReviews: Gaucher Disease	Compare labs
Gaucher disease perinatal lethal MedGen: C1842704 OMIM: 608013 GeneReviews: Gaucher Disease	Compare labs
Gaucher disease type I MedGen: C1961835 OMIM: 230800 GeneReviews: Gaucher Disease	Compare labs
Gaucher disease type II MedGen: C0268250 OMIM: 230900 GeneReviews: Gaucher Disease	Compare labs
Gaucher disease type III MedGen: C0268251 OMIM: 231000 GeneReviews: Gaucher Disease	Compare labs
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MedGen: C1856476 OMIM: 231005 GeneReviews: Gaucher Disease	Compare labs
Lewy body dementia MedGen: C0752347 OMIM: 127750 GeneReviews: Not available	Compare labs
Parkinson disease, late-onset MedGen: C3160718 OMIM: 168600 GeneReviews: Parkinson Disease Overview, Gaucher Disease	Compare labs

EBI GWAS Catalog

Description
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of glucosidase, beta, acid (GBA; GLUC) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Glucocerebrosidase fusion proteins with the HIV-1 Tat transduction domain are internalized by cells and localize to endosomes and lysosomes, suggesting a novel strategy for generating therapeutic enzymes for Gaucher disease enzyme replacement therapy	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71037 (e-PCR)
- UniSTS:11016

RH71038 (e-PCR)
- UniSTS:11017

D1S3500 (e-PCR)
- UniSTS:17944

GDB:607681 (e-PCR)
- UniSTS:158262

humgcb1 (e-PCR)
- UniSTS:91199

GDB:361159 (e-PCR)
- UniSTS:156742

MARC_6921-6922:996689842:1 (e-PCR)
- UniSTS:269690

RH69089 (e-PCR)
- UniSTS:50344

AL034327 (e-PCR)
- UniSTS:94153

G06424 (e-PCR)
- UniSTS:7912

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables galactosylceramidase activity	IEA Inferred from Electronic Annotation more info
enables glucosylceramidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucosylceramidase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucosylceramidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glucosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables scavenger receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables steryl-beta-glucosidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in antigen processing and presentation	IEA Inferred from Electronic Annotation more info
involved_in autophagosome organization	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in beta-glucoside catabolic process	IEA Inferred from Electronic Annotation more info
involved_in brain morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebellar Purkinje cell layer formation	IEA Inferred from Electronic Annotation more info
involved_in cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in establishment of skin barrier	IEA Inferred from Electronic Annotation more info
involved_in glucosylceramide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucosylceramide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glucosylceramide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in homeostasis of number of cells	IEA Inferred from Electronic Annotation more info
involved_in lipid glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid storage	IEA Inferred from Electronic Annotation more info
involved_in lymphocyte migration	IEA Inferred from Electronic Annotation more info
involved_in lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microglia differentiation	IEA Inferred from Electronic Annotation more info
involved_in microglial cell proliferation	IEA Inferred from Electronic Annotation more info
NOT involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in motor behavior	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of MAP kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response	IC Inferred by Curator more info	PubMed
involved_in negative regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in neuromuscular process	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
NOT involved_in neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuronal action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein lipidation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein-containing complex disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in pyramidal neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lysosomal protein catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of macroautophagy	TAS Traceable Author Statement more info	PubMed
involved_in respiratory electron transport chain	IEA Inferred from Electronic Annotation more info
involved_in response to dexamethasone	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to pH	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in response to thyroid hormone	IEA Inferred from Electronic Annotation more info
involved_in sphingosine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in termination of signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in lysosomal lumen	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in trans-Golgi network	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: lysosomal acid glucosylceramidase

Names: D-glucosyl-N-acylsphingosine glucohydrolase; SGTase; acid beta-glucosidase; alglucerase; beta-GC; beta-glucocerebrosidase; beta-glucosylceramidase 1; cholesterol glucosyltransferase; cholesteryl-beta-glucosidase; glucocerebrosidase; glucosidase, beta, acid; glucosylceramidase-like protein; imiglucerase; lysosomal acid GCase; lysosomal cholesterol glycosyltransferase; lysosomal galactosylceramidase; lysosomal glucocerebrosidase; lysosomal glycosylceramidase

NP_000148.2

EC 3.2.1.45

EC 3.2.1.46

NP_001005741.1

EC 3.2.1.45

EC 3.2.1.46

NP_001005742.1

EC 3.2.1.45

EC 3.2.1.46

NP_001165282.1

EC 3.2.1.45

EC 3.2.1.46

NP_001165283.1

EC 3.2.1.45

EC 3.2.1.46

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.

Genomic

NG_009783.1 RefSeqGene

Range

8449..15246

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000157.4 → NP_000148.2 lysosomal acid glucosylceramidase isoform 1 precursor

See identical proteins and their annotated locations for NP_000148.2

Status: REVIEWED

Source sequence(s)

BC003356, DC297079

Consensus CDS

CCDS1102.1

UniProtKB/Swiss-Prot

A8K796, B7Z5G2, B7Z6S1, J3KQG4, J3KQK9, P04062, Q16545, Q4VX22, Q6I9R6, Q9UMJ8

UniProtKB/TrEMBL

A0A068F658, A0A0G2JLB3, A0A223PQI4, B2R6A7

Related

ENSP00000357357.3, ENST00000368373.8

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
NM_001005741.3 → NP_001005741.1 lysosomal acid glucosylceramidase isoform 1 precursor

See identical proteins and their annotated locations for NP_001005741.1

Status: REVIEWED

Source sequence(s)

AL713999

Consensus CDS

CCDS1102.1

UniProtKB/Swiss-Prot

A8K796, B7Z5G2, B7Z6S1, J3KQG4, J3KQK9, P04062, Q16545, Q4VX22, Q6I9R6, Q9UMJ8

UniProtKB/TrEMBL

A0A068F658, A0A0G2JLB3, A0A223PQI4, B2R6A7

Related

ENSP00000314508.5, ENST00000327247.9

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
NM_001005742.3 → NP_001005742.1 lysosomal acid glucosylceramidase isoform 1 precursor

See identical proteins and their annotated locations for NP_001005742.1

Status: REVIEWED

Source sequence(s)

AL713999

Consensus CDS

CCDS1102.1

UniProtKB/Swiss-Prot

A8K796, B7Z5G2, B7Z6S1, J3KQG4, J3KQK9, P04062, Q16545, Q4VX22, Q6I9R6, Q9UMJ8

UniProtKB/TrEMBL

A0A068F658, A0A0G2JLB3, A0A223PQI4, B2R6A7

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
NM_001171811.2 → NP_001165282.1 lysosomal acid glucosylceramidase isoform 2

Status: REVIEWED

Source sequence(s)

AL713999

Consensus CDS

CCDS53373.1

UniProtKB/TrEMBL

A0A0G2JNZ5

Related

ENSP00000397986.2, ENST00000428024.3

Conserved Domains (1) summary

cl23815
Location:1 → 446

Glyco_hydro_30; O-Glycosyl hydrolase family 30
NM_001171812.2 → NP_001165283.1 lysosomal acid glucosylceramidase isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AL713999

Consensus CDS

CCDS53374.1

UniProtKB/TrEMBL

A0A0G2JNZ0

Related

ENSP00000402577.2, ENST00000427500.7

Conserved Domains (1) summary

cl23815
Location:40 → 484

Glyco_hydro_30; O-Glycosyl hydrolase family 30

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

155234452..155244627 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003315906.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

39475..49650 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

154373009..154383185 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001005749.1: Suppressed sequence

Description

NM_001005749.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_001005750.1: Suppressed sequence

Description

NM_001005750.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.