Domain

Glycosyl-hydrolase family 116, N-terminal (IPR024462)

Short name: GH116_N

Domain relationships

None.

Description

This entry represents the N-terminal domain found in the CAZyme GH116 family members, which presently includes enzymes with beta-glucosidase (EC:3.2.1.21), beta-xylosidase (EC:3.2.1.37) , and glucocerebrosidase (EC:3.2.1.45) activity [PMID: 23332917, PMID: 20427274]. The N-terminal is thought to be the luminal domain while the C-terminal is the cytosolic domain.

Proteins containing this domain include animal non-lysosomal glucosylceramidase GBA2, which catalyse the conversion of glucosylceramide to free glucose and ceramide [PMID: 17105727]. GBA2 is involved in sphingomyelin generation and prevention of glycolipid accumulation and may also catalyse the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo [PMID: 17080196]. Mutations in the human protein cause motor-neurone defects in hereditary spastic paraplegia [PMID: 23332917].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam