Version 5.4
Homo sapiens Gene: HEXB
Summary
InnateDB Gene IDBG-28442.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEXB
Gene Name hexosaminidase B (beta polypeptide)
Synonyms ENC-1AS; HEL-248
Species Homo sapiens
Ensembl Gene ENSG00000049860
Encoded Proteins
IDBP-28444
hexosaminidase B (beta polypeptide)
IDBP-481419
hexosaminidase B (beta polypeptide)
IDBP-485241
hexosaminidase B (beta polypeptide)
IDBP-485377
hexosaminidase B (beta polypeptide)
IDBP-473966
hexosaminidase B (beta polypeptide)
IDBP-485147
hexosaminidase B (beta polypeptide)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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). [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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:74640023-74722647
Strand Forward strand
Band q13.3
Transcripts
ENST00000261416 ENSP00000261416
ENST00000511181 ENSP00000426285
ENST00000513079
ENST00000515528
ENST00000510820
ENST00000504459
ENST00000513336 ENSP00000423713
ENST00000511621
ENST00000503312 ENSP00000426384
ENST00000513539
ENST00000509579 ENSP00000424939
ENST00000505859 ENSP00000424550
ENST00000513867
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
Experimentally validated
Total 22 [view]
Protein-Protein 22 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004563 beta-N-acetylhexosaminidase activity
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
Biological Process
GO:0001501 skeletal system development
GO:0005975 carbohydrate metabolic process
GO:0006665 sphingolipid metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0006689 ganglioside catabolic process
GO:0006874 cellular calcium ion homeostasis
GO:0007040 lysosome organization
GO:0007338 single fertilization
GO:0007341 penetration of zona pellucida
GO:0007605 sensory perception of sound
GO:0007626 locomotory behavior
GO:0008049 male courtship behavior
GO:0008219 cell death
GO:0008360 regulation of cell shape
GO:0008654 phospholipid biosynthetic process
GO:0009313 oligosaccharide catabolic process
GO:0019915 lipid storage
GO:0019953 sexual reproduction
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0030207 chondroitin sulfate catabolic process
GO:0030212 hyaluronan metabolic process
GO:0030214 hyaluronan catabolic process
GO:0031323 regulation of cellular metabolic process
GO:0042339 keratan sulfate metabolic process
GO:0042340 keratan sulfate catabolic process
GO:0042552 myelination
GO:0043615 astrocyte cell migration
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048477 oogenesis
GO:0050885 neuromuscular process controlling balance
GO:0050905 neuromuscular process
Cellular Component
GO:0001669 acrosomal vesicle
GO:0005764 lysosome
GO:0016020 membrane
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021665
View Gene Order
ENSBTAG00000015512
Not yet available
Pathways
NETPATH
REACTOME
REACT_116105
Glycosphingolipid metabolism pathway
REACT_121313
Keratan sulfate degradation pathway
REACT_120888
CS/DS degradation pathway
REACT_120996
Hyaluronan uptake and degradation pathway
REACT_19323
Sphingolipid metabolism pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_121288
Keratan sulfate/keratin metabolism pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_121206
Chondroitin sulfate/dermatan sulfate metabolism pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_121083
Hyaluronan metabolism pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa00520
Amino sugar and nucleotide sugar metabolism pathway
hsa00604
Glycosphingolipid biosynthesis pathway
hsa00511
Other glycan degradation pathway
hsa00603
Glycosphingolipid biosynthesis pathway
hsa00531
Glycosaminoglycan degradation pathway
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.69293
RefSeq NM_000521 NM_001292004
HUGO
OMIM
CCDS CCDS4022
HPRD 06043
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca