LMPD Database

LMP000283

Record overview

LMPD IDLMP000283
Gene ID2629
SpeciesHomo sapiens (Human)
Gene Nameglucosidase, beta, acid
Gene SymbolGBA
SynonymsGBA1; GCB; GLUC
Alternate namesglucosylceramidase; beta-GC; alglucerase; imiglucerase; acid beta-glucosidase; beta-glucocerebrosidase; lysosomal glucocerebrosidase; glucosylceramidase-like protein; D-glucosyl-N-acylsphingosine glucohydrolase
Chromosome1
Map Location1q21
EC Number3.2.1.45
SummaryThis 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]
OrthologsView 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
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHT
GTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLI
HRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM
QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVL
NRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
 
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: 
ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPA
QNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQ
PGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPE
AAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDS
PIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ 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: ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPA
QNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQ
PGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPE
AAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDS
PIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ 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: ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPA
QNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQ
PGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPE
AAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDS
PIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ 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: ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSL
PEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCL
GFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWE
QSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVAL
MHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ