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Identification
HMDB Protein ID HMDBP01795
Secondary Accession Numbers
  • 7152
Name Glucosylceramidase
Synonyms
  1. Acid beta-glucosidase
  2. Alglucerase
  3. Beta-glucocerebrosidase
  4. D-glucosyl-N-acylsphingosine glucohydrolase
  5. Imiglucerase
Gene Name GBA
Protein Type Enzyme
Biological Properties
General Function Involved in catalytic activity
Specific Function Not Available
Pathways
  • Fabry disease
  • Gaucher Disease
  • Globoid Cell Leukodystrophy
  • Krabbe disease
  • Lysosome
  • Metachromatic Leukodystrophy (MLD)
  • Other glycan degradation
  • Sphingolipid Metabolism
  • sphingolipid metabolism
Reactions
D-glucosyl-N-acylsphingosine + Water → D-Glucose + N-acylsphingosine details
beta-D-Glucosyl-(1<->1)-ceramide + Water → D-Glucose + N-Acylsphingosine details
GO Classification
Biological Process
ceramide biosynthetic process
phospholipid metabolic process
negative regulation of MAP kinase activity
positive regulation of protein dephosphorylation
sphingosine biosynthetic process
termination of signal transduction
negative regulation of inflammatory response
cellular response to tumor necrosis factor
glucosylceramide catabolic process
negative regulation of interleukin-6 production
carbohydrate metabolic process
cell death
lysosome organization
Cellular Component
lysosomal lumen
lysosomal membrane
Component
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
vacuole
lytic vacuole
lysosome
Function
ion binding
cation binding
binding
catalytic activity
hydrolase activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity, hydrolyzing o-glycosyl compounds
glucosylceramidase activity
Molecular Function
cation binding
receptor binding
glucosylceramidase activity
Process
metabolic process
sphingolipid metabolic process
membrane lipid metabolic process
primary metabolic process
carbohydrate metabolic process
cellular process
cellular component organization at cellular level
organelle organization
vacuole organization
lysosome organization
lipid metabolic process
cellular lipid metabolic process
Cellular Location
  1. Peripheral membrane protein
  2. Lysosome membrane
  3. Lumenal side
Gene Properties
Chromosome Location 1
Locus 1q21
SNPs GBA
Gene Sequence
>1611 bp
ATGGAGTTTTCAAGTCCTTCCAGAGAGGAATGTCCCAAGCCTTTGAGTAGGGTAAGCATC
ATGGCTGGCAGCCTCACAGGATTGCTTCTACTTCAGGCAGTGTCGTGGGCATCAGGTGCC
CGCCCCTGCATCCCTAAAAGCTTCGGCTACAGCTCGGTGGTGTGTGTCTGCAATGCCACA
TACTGTGACTCCTTTGACCCCCCGACCTTTCCTGCCCTTGGTACCTTCAGCCGCTATGAG
AGTACACGCAGTGGGCGACGGATGGAGCTGAGTATGGGGCCCATCCAGGCTAATCACACG
GGCACAGGCCTGCTACTGACCCTGCAGCCAGAACAGAAGTTCCAGAAAGTGAAGGGATTT
GGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCTGCCCAA
AATTTGCTACTTAAATCGTACTTCTCTGAAGAAGGAATCGGATATAACATCATCCGGGTA
CCCATGGCCAGCTGTGACTTCTCCATCCGCACCTACACCTATGCAGACACCCCTGATGAT
TTCCAGTTGCACAACTTCAGCCTCCCAGAGGAAGATACCAAGCTCAAGATACCCCTGATT
CACCGAGCCCTGCAGTTGGCCCAGCGTCCCGTTTCACTCCTTGCCAGCCCCTGGACATCA
CCCACTTGGCTCAAGACCAATGGAGCGGTGAATGGGAAGGGGTCACTCAAGGGACAGCCC
GGAGACATCTACCACCAGACCTGGGCCAGATACTTTGTGAAGTTCCTGGATGCCTATGCT
GAGCACAAGTTACAGTTCTGGGCAGTGACAGCTGAAAATGAGCCTTCTGCTGGGCTGTTG
AGTGGATACCCCTTCCAGTGCCTGGGCTTCACCCCTGAACATCAGCGAGACTTCATTGCC
CGTGACCTAGGTCCTACCCTCGCCAACAGTACTCACCACAATGTCCGCCTACTCATGCTG
GATGACCAACGCTTGCTGCTGCCCCACTGGGCAAAGGTGGTACTGACAGACCCAGAAGCA
GCTAAATATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTTCTGGCTCCAGCCAAA
GCCACCCTAGGGGAGACACACCGCCTGTTCCCCAACACCATGCTCTTTGCCTCAGAGGCC
TGTGTGGGCTCCAAGTTCTGGGAGCAGAGTGTGCGGCTAGGCTCCTGGGATCGAGGGATG
CAGTACAGCCACAGCATCATCACGAACCTCCTGTACCATGTGGTCGGCTGGACCGACTGG
AACCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC
ATCATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCATGTTCTACCACCTTGGC
CACTTCAGCAAGTTCATTCCTGAGGGCTCCCAGAGAGTGGGGCTGGTTGCCAGTCAGAAG
AACGACCTGGACGCAGTGGCACTGATGCATCCCGATGGCTCTGCTGTTGTGGTCGTGCTA
AACCGCTCCTCTAAGGATGTGCCTCTTACCATCAAGGATCCTGCTGTGGGCTTCCTGGAG
ACAATCTCACCTGGCTACTCCATTCACACCTACCTGTGGCGTCGCCAGTGA
Protein Properties
Number of Residues 536
Molecular Weight 59715.745
Theoretical pI 7.601
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Glucosylceramidase
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNAT
YCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF
GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD
FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK
ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW
NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
GenBank ID Protein 2564914
UniProtKB/Swiss-Prot ID P04062
UniProtKB/Swiss-Prot Entry Name GLCM_HUMAN
PDB IDs
GenBank Gene ID AF023268
GeneCard ID GBA
GenAtlas ID GBA
HGNC ID HGNC:4177
References
General References
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