Gba1 glucosylceramidase beta 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gba1provided by RGD
Official Full Name: glucosylceramidase beta 1provided by RGD
Primary source: RGD:1589149
See related: Ensembl:ENSRNOG00000049281 AllianceGenome:RGD:1589149
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Gba
Summary: Enables glucosylceramidase activity. Involved in several processes, including regulation of water loss via skin; response to dexamethasone; and skin morphogenesis. Located in lysosome. 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). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Brain (RPKM 217.9), Adrenal (RPKM 207.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 2q34

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (176902141..176916015)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (174609437..174615457)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (188511781..188522602)

Chromosome 2 - NC_086020.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
Title: The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.

Submit: New GeneRIF Correction

General gene information

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Markers

RH137121 (e-PCR)
- UniSTS:219209

RH141384 (e-PCR)
- UniSTS:223380

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables beta-glucosidase activity	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables glucosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	ISO Inferred from Sequence Orthology more info
enables scavenger receptor binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables steryl-beta-glucosidase activity	ISO Inferred from Sequence Orthology more info

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

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in lysosomal lumen	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: lysosomal acid glucosylceramidase

Names: glucocerebrosidase; glucosidase, beta, acid

NP_001121111.1

EC 3.2.1.45

XP_063138610.1

EC 3.2.1.45

XP_063138611.1

EC 3.2.1.45

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)

NM_001127639.1 → NP_001121111.1 lysosomal acid glucosylceramidase precursor

See identical proteins and their annotated locations for NP_001121111.1

Status: PROVISIONAL

Source sequence(s)

BC166732

UniProtKB/TrEMBL

B2RYC9, M0R3L8

Related

ENSRNOP00000063935.2, ENSRNOT00000074727.2

Conserved Domains (1) summary

cl23815
Location:20 → 512

Glyco_hydro_30; O-Glycosyl hydrolase family 30

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086020.1 Reference GRCr8

Range

176902141..176916015

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063282541.1 → XP_063138611.1 lysosomal acid glucosylceramidase isoform X1

UniProtKB/TrEMBL

B2RYC9
XM_063282540.1 → XP_063138610.1 lysosomal acid glucosylceramidase isoform X1

UniProtKB/TrEMBL

B2RYC9