Version 5.4
| Bos taurus Gene: BT.56197 | |||||||||||
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| Summary | |||||||||||
| InnateDB Gene | IDBG-628528.3 | ||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
| Gene Symbol | BT.56197 | ||||||||||
| Gene Name | beta-hexosaminidase subunit beta preproprotein | ||||||||||
| Synonyms | |||||||||||
| Species | Bos taurus | ||||||||||
| Ensembl Gene | ENSBTAG00000015512 | ||||||||||
| Encoded Proteins |
Uncharacterized protein
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| Protein Structure | |||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||
| Entrez Gene | |||||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000049860:
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). [provided by RefSeq, Jul 2008] 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] |
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| Gene Information | |||||||||||
| Type | Protein coding | ||||||||||
| Genomic Location | Chromosome 20:6721327-6753670 | ||||||||||
| Strand | Reverse strand | ||||||||||
| Band | |||||||||||
| Transcripts |
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| Interactions | |||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||
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Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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| Pathway Predictions based on Human Orthology Data | |||||||||||
| NETPATH | |||||||||||
| REACTOME |
Glycosphingolipid metabolism pathway
Keratan sulfate degradation pathway
CS/DS degradation pathway
Hyaluronan uptake and degradation pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
Hyaluronan metabolism pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
Glycosaminoglycan metabolism pathway
Disease pathway
Keratan sulfate degradation pathway
MPS IV - Morquio syndrome B pathway
MPS IV - Morquio syndrome A pathway
CS/DS degradation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
Glycosphingolipid metabolism pathway
MPS IIIC - Sanfilippo syndrome C pathway
Metabolism pathway
Sphingolipid metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Diseases of glycosylation pathway
Metabolism of lipids and lipoproteins pathway
Defective CHSY1 causes TPBS pathway
Defective B3GAT3 causes JDSSDHD pathway
MPS II - Hunter syndrome pathway
Diseases associated with glycosaminoglycan metabolism pathway
Hyaluronan metabolism pathway
Hyaluronan uptake and degradation pathway
MPS IX - Natowicz syndrome pathway
Glycogen storage diseases pathway
MPS VII - Sly syndrome pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Defective CHST3 causes SEDCJD pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Keratan sulfate/keratin metabolism pathway
MPS IIIB - Sanfilippo syndrome B pathway
MPS IIIA - Sanfilippo syndrome A pathway
Defective PAPSS2 causes SEMD-PA pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Mucopolysaccharidoses pathway
Defective CHST6 causes MCDC1 pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Defective EXT2 causes exostoses 2 pathway
Defective SLC26A2 causes chondrodysplasias pathway
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| KEGG |
Amino sugar and nucleotide sugar metabolism pathway
Glycosphingolipid biosynthesis pathway
Other glycan degradation pathway
Glycosphingolipid biosynthesis pathway
Glycosaminoglycan degradation pathway
Lysosome pathway
Amino sugar and nucleotide sugar metabolism pathway
Glycosphingolipid biosynthesis pathway
Other glycan degradation pathway
Glycosaminoglycan degradation pathway
Glycosphingolipid biosynthesis pathway
Lysosome pathway
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| INOH | |||||||||||
| PID NCI | |||||||||||
| Cross-References | |||||||||||
| SwissProt | |||||||||||
| TrEMBL | H7BWW2 | ||||||||||
| UniProt Splice Variant | |||||||||||
| Entrez Gene | 618571 | ||||||||||
| UniGene | Bt.56197 | ||||||||||
| RefSeq | NM_001076510 | ||||||||||
| HUGO | |||||||||||
| OMIM | |||||||||||
| CCDS | |||||||||||
| HPRD | |||||||||||
| IMGT | |||||||||||
| EMBL | DAAA02049956 | ||||||||||
| GenPept | |||||||||||
| RNA Seq Atlas | 618571 | ||||||||||