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PANTHER Family Information   
Family: GLUCOSYLCERAMIDASE (PTHR11069)
Subfamilies: 1
PANTHER Links:
Tree  Multiple Sequence Alignment
Tree  MSA
Abstract:

O-Glycosyl hydrolases (EC 3.2.1.-) are a widespread group of enzymes that hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. A classification system for glycosyl hydrolases, based on sequence similarity, has led to the definition of 85 different families [PMID:7624375, PMID:8535779, PUB00005672]. This classification is available on the CAZy (CArbohydrate-Active EnZymes) web site [PUB00007032]. Because the fold of proteins is better conserved than their sequences, some of the families can be grouped in 'clans'.

O-Glycosyl hydrolases (EC 3.2.1.-) are a widespread group of enzymes that hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. A classification system for glycosyl hydrolases, based on sequence similarity, has led to the definition of 85 different families [PMID:1747104, PMID:8352747, PMID:8687420, PMID:1732212, PMID:8535779, PUB00005672]. This classification is available on the CAZy (CArbohydrate-Active EnZymes) web site [PUB00007032]. Because the fold of proteins is better conserved than their sequences, some of the families can be grouped in 'clans'.

Glycoside hydrolase family 30 CAZY: GH_30 comprises enzymes with only one known activity; glucosylceramidase (EC: 3.2.1.45).

Family 30 encompasses the mammalian glucosylceramidases. Human acid beta-glucosidase (D-glucosyl-N-acylsphingosine glucohydrolase), cleaves the glucosidic bonds of glucosylceramide and synthetic beta-glucosides [PMID:3456607]. Any one of over 50 different mutations in the gene of glucocerebrosidase have been found to affect activity of this hydrolase, producing variants of Gaucher disease, the most prevalent lysosomal storage disease [PMID:3456607, PMID:9316290].


InterPro Accession: IPR001139
PANTHER Molecular Function: Hydrolase
   Glycosidase

PANTHER Biological Process: Carbohydrate metabolism
Lipid, fatty acid and steroid metabolism
   Lipid metabolism

Pathway Categories: No pathway information available
Training Sequences: 19
HMM Length 548
Downloads: HMM (HMMER format)

Genes assigned to this Family
  Total Celera FlyBase NCBI
H. sapiens 3 2 0 1
M. musculus 2 1 0 1
R. norvegicus 2 1 0 1
D. melanogaster 2 0 2 0
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