Gene/Proteome Database (LMPD)

LMPD ID
LMP000283
Gene ID
2629
Species
Homo sapiens (Human)
Gene Name
glucosidase, beta, acid
Gene Symbol
GBA
Synonyms
GBA1; GCB; GLUC
Alternate Names
glucosylceramidase; beta-GC; alglucerase; imiglucerase; acid beta-glucosidase; beta-glucocerebrosidase; lysosomal glucocerebrosidase; glucosylceramidase-like protein; D-glucosyl-N-acylsphingosine glucohydrolase
Chromosome
1
Map Location
1q21
EC Number
3.2.1.45
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]
Orthologs
View orthologs and multiple alignments for GBA

Proteins

glucosylceramidase isoform 1 precursor
Refseq ID NP_000148
Protein GI 54607043
UniProt ID P04062
mRNA ID NM_000157
Length 536
RefSeq Status REVIEWED
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
glucosylceramidase isoform 1 precursor
Refseq ID NP_001005742
Protein GI 54607047
UniProt ID P04062
mRNA ID NM_001005742
Length 536
RefSeq Status REVIEWED
Protein sequence is identical to GI:54607043 (mRNA isoform)
glucosylceramidase isoform 1 precursor
Refseq ID NP_001005741
Protein GI 54607045
UniProt ID P04062
mRNA ID NM_001005741
Length 536
RefSeq Status REVIEWED
Protein sequence is identical to GI:54607043 (mRNA isoform)
glucosylceramidase isoform 2
Refseq ID NP_001165282
Protein GI 54607047
UniProt ID P04062
mRNA ID NM_001171811
Length 536
RefSeq Status REVIEWED
Protein sequence is identical to GI:54607043 (mRNA isoform)
glucosylceramidase isoform 3 precursor
Refseq ID NP_001165283
Protein GI 54607047
UniProt ID P04062
mRNA ID NM_001171812
Length 536
RefSeq Status REVIEWED
Protein sequence is identical to GI:54607043 (mRNA isoform)
sig_peptide: 1..39 calculated_mol_wt: 4137 peptide sequence: MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASG mat_peptide: 40..536 product: glucosylceramidase isoform 1 calculated_mol_wt: 55598 peptide sequence: ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ sig_peptide: 1..39 calculated_mol_wt: 4137 peptide sequence: MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASG mat_peptide: 40..536 product: glucosylceramidase isoform 1 calculated_mol_wt: 55598 peptide sequence: ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ sig_peptide: 1..39 calculated_mol_wt: 4137 peptide sequence: MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASG mat_peptide: 40..536 product: glucosylceramidase isoform 1 calculated_mol_wt: 55598 peptide sequence: ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ sig_peptide: 1..39 calculated_mol_wt: 4137 peptide sequence: MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASG mat_peptide: 40..487 product: glucosylceramidase isoform 3 calculated_mol_wt: 50353 peptide sequence: ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ

Gene Information

Entrez Gene ID
2629
Gene Name
glucosidase, beta, acid
Gene Symbol
GBA
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0043202 ISS:BHF-UCL C lysosomal lumen
GO:0005765 IDA:UniProtKB C lysosomal membrane
GO:0004348 IDA:BHF-UCL F glucosylceramidase activity
GO:0005102 ISS:BHF-UCL F receptor binding
GO:0005975 IEA:InterPro P carbohydrate metabolic process
GO:0008219 IEA:UniProtKB-KW P cell death
GO:0071356 IMP:BHF-UCL P cellular response to tumor necrosis factor
GO:0046513 IMP:BHF-UCL P ceramide biosynthetic process
GO:0006680 IMP:BHF-UCL P glucosylceramide catabolic process
GO:0006687 TAS:Reactome P glycosphingolipid metabolic process
GO:0043407 IMP:BHF-UCL P negative regulation of MAP kinase activity
GO:0050728 IC:BHF-UCL P negative regulation of inflammatory response
GO:0032715 IDA:BHF-UCL P negative regulation of interleukin-6 production
GO:0035307 IMP:BHF-UCL P positive regulation of protein dephosphorylation
GO:0033561 IEA:Ensembl P regulation of water loss via skin
GO:0043627 IEA:Ensembl P response to estrogen
GO:0051384 IEA:Ensembl P response to glucocorticoid
GO:0009268 IEA:Ensembl P response to pH
GO:0033574 IEA:Ensembl P response to testosterone
GO:0097066 IEA:Ensembl P response to thyroid hormone
GO:0043589 IEA:Ensembl P skin morphogenesis
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006665 TAS:Reactome P sphingolipid metabolic process
GO:0046512 IMP:BHF-UCL P sphingosine biosynthetic process
GO:0023021 IMP:BHF-UCL P termination of signal transduction

KEGG Pathway Links

KEGG Pathway ID Description
hsa04142 Lysosome
hsa01100 Metabolic pathways
hsa00600 Sphingolipid metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_116105 Glycosphingolipid metabolism

Domain Information

InterPro Annotations

Accession Description
IPR017853 Glycoside hydrolase superfamily
IPR013781 Glycoside hydrolase, catalytic domain
IPR001139 Glycoside hydrolase, family 30
IPR013780 Glycosyl hydrolase, family 13, all-beta

UniProt Annotations

Entry Information

Gene Name
glucosidase, beta, acid
Protein Entry
GLCM_HUMAN
UniProt ID
P04062
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing, Alternative initiation; Named isoforms=5; Name=Long; IsoId=P04062-1; Sequence=Displayed; Note=Has a 39 residue signal sequence. The upstream initiation site produces two to three times as much protein as does the downstream initiation codon.; Name=Short; IsoId=P04062-2; Sequence=VSP_018800; Note=Has a 19 residue signal sequence.; Name=3; IsoId=P04062-3; Sequence=VSP_025216, VSP_025217, VSP_025218; Note=Produced by alternative splicing.; Name=4; IsoId=P04062-4; Sequence=VSP_054655; Note=No experimental confirmation available.; Name=5; IsoId=P04062-5; Sequence=VSP_054656; Note=No experimental confirmation available.;
Catalytic Activity D-glucosyl-N-acylsphingosine + H(2)O = D- glucose + N-acylsphingosine.
Disease Gaucher disease (GD) [MIM
Disease Gaucher disease 1 (GD1) [MIM
Disease Gaucher disease 2 (GD2) [MIM
Disease Gaucher disease 3 (GD3) [MIM
Disease Gaucher disease 3C (GD3C) [MIM
Disease Gaucher disease perinatal lethal (GDPL) [MIM
Disease Note=Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
Disease Parkinson disease (PARK) [MIM
Enzyme Regulation Requires saposin-C and anionic phospholipids for activity.
Interaction O35114:Scarb2 (xeno); NbExp=1; IntAct=EBI-1564609, EBI-1564519;
Pharmaceutical Available under the names Ceredase and Cerezyme (Genzyme). Used to treat Gaucher's disease.
Similarity Belongs to the glycosyl hydrolase 30 family.
Subcellular Location Lysosome membrane {ECO
Subunit Interacts with saposin-C. Interacts with SCARB2. {ECO
Web Resource Name=Ceredase; Note=Clinical information on Ceredase; URL="http://www.rxlist.com/ceredase-drug.htm";
Web Resource Name=Cerezyme; Note=Clinical information on Cerezyme; URL="http://www.rxlist.com/cerezyme-drug.htm";

Identical and Related Proteins

Unique RefSeq proteins for LMP000283 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
54607043 RefSeq NP_000148 536 glucosylceramidase isoform 1 precursor

Identical Sequences to LMP000283 proteins

Reference Database Accession Length Protein Name
GI:54607043 GenBank AFO05792.1 536 Sequence 430 from patent US 8216786
GI:54607043 GenBank AFO05793.1 536 Sequence 431 from patent US 8216786
GI:54607043 GenBank AFO05794.1 536 Sequence 432 from patent US 8216786
GI:54607043 GenBank AIC48813.1 536 GBA, partial [synthetic construct]
GI:54607043 GenBank AID60277.1 536 glucosylceramidase [Homo sapiens]
GI:54607043 RefSeq XP_006711333.1 536 PREDICTED: glucosylceramidase isoform X1 [Homo sapiens]

Related Sequences to LMP000283 proteins

Reference Database Accession Length Protein Name
GI:54607043 DBBJ BAH13365.1 621 unnamed protein product [Homo sapiens]
GI:54607043 GenBank AAP36904.1 537 Homo sapiens glucosidase, beta; acid (includes glucosylceramidase), partial [synthetic construct]
GI:54607043 GenBank AAX43681.1 537 glucosidase beta acid, partial [synthetic construct]
GI:54607043 GenBank AAX43682.1 537 glucosidase beta acid, partial [synthetic construct]
GI:54607043 GenBank ACM85831.1 569 Sequence 11329 from patent US 6812339
GI:54607043 GenBank ADL72481.1 536 Sequence 24 from patent US 7696163