• Gene id: 2629

Gene Summary

• Gene Symbol: GBA   Gene   UCSC   Ensembl
• Aliases: GBA1, GCB, GLUC
• Gene name: glucosylceramidase beta
• Alternate names: glucosylceramidase, D-glucosyl-N-acylsphingosine glucohydrolase, acid beta-glucosidase, alglucerase, beta-GC, beta-glucocerebrosidase, glucosidase, beta, acid, glucosylceramidase-like protein, imiglucerase, lysosomal glucocerebrosidase,
• Gene location: 1q22 (155244861: 155234447)     Exons: 12     NC_000001.11
• Gene summary(Entrez): 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 accumulati
• OMIM: 606463

Protein Summary

• Protein general information: P04062  
  • Name: Glucosylceramidase (EC 3.2.1.45) (Acid beta glucosidase) (Alglucerase) (Beta glucocerebrosidase) (Beta GC) (D glucosyl N acylsphingosine glucohydrolase) (Imiglucerase)
  • Length: 536  
  • Mass: 59,716
• Sequence:

  MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGT
  FSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSE
  EGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLK
  TNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
  RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTML
  FASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTF
  YKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPG
  YSIHTYLWRRQ

• Structural information:
  • Interpro: IPR033452  IPR001139  IPR033453  IPR013780  IPR017853  
  • PDB: 1OGS 1Y7V 2F61 2J25 2NSX 2NT0 2NT1 2V3D 2V3E 2V3F 2VT0 2WCG 2WKL 2XWD 2XWE 3GXD 3GXF 3GXI 3GXM 3KE0 3KEH 3RIK 3RIL 5LVX
  • PDBsum: 1OGS 1Y7V 2F61 2J25 2NSX 2NT0 2NT1 2V3D 2V3E 2V3F 2VT0 2WCG 2WKL 2XWD 2XWE 3GXD 3GXF 3GXI 3GXM 3KE0 3KEH 3RIK 3RIL 5LVX
  • DIP: 38645
  • STRING: ENSP00000314508
• Other Databases: GeneCards:  GBA  Malacards:  GBA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004348	glucosylceramidase activity	IDA	molecular function
GO:0004348	glucosylceramidase activity	IMP	molecular function
GO:0005102	receptor binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006680	glucosylceramide catabolic process	IMP	biological process
GO:0006680	glucosylceramide catabolic process	IMP	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0009268	response to pH	IEA	biological process
GO:0016239	positive regulation of macroautophagy	IEA	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0023021	termination of signal transduction	IMP	biological process
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0032715	negative regulation of interleukin-6 production	IDA	biological process
GO:0033561	regulation of water loss via skin	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0035307	positive regulation of protein dephosphorylation	IMP	biological process
GO:0043202	lysosomal lumen	ISS	cellular component
GO:0043407	negative regulation of MAP kinase activity	IMP	biological process
GO:0043589	skin morphogenesis	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0046512	sphingosine biosynthetic process	IMP	biological process
GO:0046513	ceramide biosynthetic process	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IC	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071356	cellular response to tumor necrosis factor	IMP	biological process
GO:0097066	response to thyroid hormone	IEA	biological process
GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	IMP	biological process
GO:0004348	glucosylceramidase activity	IEA	molecular function
GO:0004348	glucosylceramidase activity	IEA	molecular function
GO:0004348	glucosylceramidase activity	IEA	molecular function
GO:0004348	glucosylceramidase activity	IDA	molecular function
GO:0004348	glucosylceramidase activity	IMP	molecular function
GO:0005102	receptor binding	IEA	molecular function
GO:0005102	receptor binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0006680	glucosylceramide catabolic process	IEA	biological process
GO:0006680	glucosylceramide catabolic process	IMP	biological process
GO:0006680	glucosylceramide catabolic process	IMP	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0009268	response to pH	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016239	positive regulation of macroautophagy	IEA	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0023021	termination of signal transduction	IMP	biological process
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0032715	negative regulation of interleukin-6 production	IDA	biological process
GO:0033561	regulation of water loss via skin	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0035307	positive regulation of protein dephosphorylation	IMP	biological process
GO:0043202	lysosomal lumen	IEA	cellular component
GO:0043202	lysosomal lumen	ISS	cellular component
GO:0043407	negative regulation of MAP kinase activity	IMP	biological process
GO:0043589	skin morphogenesis	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0046512	sphingosine biosynthetic process	IMP	biological process
GO:0046513	ceramide biosynthetic process	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IC	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071356	cellular response to tumor necrosis factor	IMP	biological process
GO:0097066	response to thyroid hormone	IEA	biological process
GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	IEA	biological process
GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	IMP	biological process
GO:0004348	glucosylceramidase activity	IDA	molecular function
GO:0004348	glucosylceramidase activity	IMP	molecular function
GO:0005102	receptor binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0006680	glucosylceramide catabolic process	IMP	biological process
GO:0006680	glucosylceramide catabolic process	IMP	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0023021	termination of signal transduction	IMP	biological process
GO:0032715	negative regulation of interleukin-6 production	IDA	biological process
GO:0035307	positive regulation of protein dephosphorylation	IMP	biological process
GO:0043202	lysosomal lumen	ISS	cellular component
GO:0043407	negative regulation of MAP kinase activity	IMP	biological process
GO:0046512	sphingosine biosynthetic process	IMP	biological process
GO:0046513	ceramide biosynthetic process	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IC	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071356	cellular response to tumor necrosis factor	IMP	biological process
GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome

Diseases

Associated diseases	References
Cancer	GAD: 19260119
Gaucher disease	OMIM: 606463
Bone diseases	GAD: 19260119
Nervous system diseases	GAD: 18674488
Multiple system atrophy	GAD: 19332698
Parkinson disease	OMIM: 606463
Lewy body dementia	KEGG: H00066
Male factor infertility	MIK: 9572418
Defects in the degradation of ganglioside	KEGG: H00426
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 9572418
Azoospermia	MIK: 9572418
Male infertility	MIK: 9572418

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
9572418	Male infertility			71 (27 men with azoospermia, 11 vasectomized men with residual spermatozoa present, 33 men with azoospermia of primary testicular origin)	Male infertility	alpha-GLUC
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq