HEXB
Summary: Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| hexosaminidase subunit beta | MIM:606873 | Ensembl:ENSG00000049860 | HGNC:HGNC:4879 | PA29257 | 5q13.3 |
GO terms in HEXB
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0004563 | beta-N-acetylhexosaminidase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008375 | acetylglucosaminyltransferase activity |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IDA | GO:0046982 | protein heterodimerization activity |
| MF | IEA | GO:0102148 | N-acetyl-beta-D-galactosaminidase activity |
| BP | IEA | GO:0001501 | skeletal system development |
| BP | TAS | GO:0006687 | glycosphingolipid metabolic process |
| BP | IEA | GO:0006689 | ganglioside catabolic process |
| BP | IEA | GO:0006874 | cellular calcium ion homeostasis |
| BP | IEA | GO:0007040 | lysosome organization |
| BP | IEA | GO:0007341 | penetration of zona pellucida |
| BP | IEA | GO:0007605 | sensory perception of sound |
| BP | IEA | GO:0007626 | locomotory behavior |
| BP | IEA | GO:0008049 | male courtship behavior |
| BP | IEA | GO:0008360 | regulation of cell shape |
| BP | IEA | GO:0008654 | phospholipid biosynthetic process |
| BP | IEA | GO:0009313 | oligosaccharide catabolic process |
| BP | IEA | GO:0019915 | lipid storage |
| BP | TAS | GO:0030207 | chondroitin sulfate catabolic process |
| BP | TAS | GO:0030214 | hyaluronan catabolic process |
| BP | TAS | GO:0042340 | keratan sulfate catabolic process |
| BP | IEA | GO:0042552 | myelination |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IEA | GO:0043615 | astrocyte cell migration |
| BP | IEA | GO:0044267 | cellular protein metabolic process |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048477 | oogenesis |
| BP | IEA | GO:0050885 | neuromuscular process controlling balance |
| CC | IEA | GO:0001669 | acrosomal vesicle |
| CC | TAS | GO:0005576 | extracellular region |
| CC | HDA | GO:0016020 | membrane |
| CC | TAS | GO:0035578 | azurophil granule lumen |
| CC | IDA | GO:0042582 | azurophil granule |
| CC | TAS | GO:0043202 | lysosomal lumen |
| CC | HDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: HEXB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HEXB
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1630316 | Glycosaminoglycan metabolism |
| reactome | R-HSA-1638074 | Keratan sulfate/keratin metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-1660662 | Glycosphingolipid metabolism |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-1793185 | Chondroitin sulfate/dermatan sulfate metabolism |
| reactome | R-HSA-2022857 | Keratan sulfate degradation |
| reactome | R-HSA-2024101 | CS/DS degradation |
| reactome | R-HSA-2142845 | Hyaluronan metabolism |
| reactome | R-HSA-2160916 | Hyaluronan uptake and degradation |
| reactome | R-HSA-3560782 | Diseases associated with glycosaminoglycan metabolism |
| reactome | R-HSA-3656248 | Defective HEXB causes GM2G2 |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-428157 | Sphingolipid metabolism |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| humancyc | PWY-6573 | chondroitin sulfate degradation (metazoa) |
| humancyc | PWY-6576 | dermatan sulfate degradation (metazoa) |
| kegg | hsa00511 | Other glycan degradation - Homo sapiens (human) |
| kegg | hsa00520 | Amino sugar and nucleotide sugar metabolism - Homo sapiens (human) |
| kegg | hsa00531 | Glycosaminoglycan degradation - Homo sapiens (human) |
| kegg | hsa00603 | Glycosphingolipid biosynthesis - globo and isoglobo series - Homo sapiens (human) |
| kegg | hsa00604 | Glycosphingolipid biosynthesis - ganglio series - Homo sapiens (human) |
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HEXB
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