Version 5.4
Bos taurus Gene: HEXA
Summary
InnateDB Gene IDBG-645595.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEXA
Gene Name Beta-hexosaminidase subunit alpha
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000012981
Encoded Proteins
IDBP-698322
Beta-hexosaminidase subunit alpha
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 ENSG00000213614:
This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:19092344-19126422
Strand Reverse strand
Band
Transcripts
ENSBTAT00000017261 ENSBTAP00000017261
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 9 interaction(s) predicted by orthology.
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004563 beta-N-acetylhexosaminidase activity
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
Biological Process
GO:0001501 skeletal system development
GO:0005975 carbohydrate metabolic process
GO:0006689 ganglioside catabolic process
GO:0007040 lysosome organization
GO:0007605 sensory perception of sound
GO:0007626 locomotory behavior
GO:0007628 adult walking behavior
GO:0008152 metabolic process
GO:0019915 lipid storage
GO:0019953 sexual reproduction
GO:0030203 glycosaminoglycan metabolic process
GO:0042552 myelination
GO:0048667 cell morphogenesis involved in neuron differentiation
GO:0050884 neuromuscular process controlling posture
GO:0050885 neuromuscular process controlling balance
Cellular Component
GO:0005764 lysosome
GO:0016020 membrane
Orthologs
Species
Mus musculus
Homo sapiens
Gene ID
Gene Order
ENSMUSG00000025232
View Gene Order
ENSG00000213614
View Gene Order
Pathways
NETPATH
REACTOME
REACT_269304
Defective EXT2 causes exostoses 2 pathway
REACT_269658
Defective CHST6 causes MCDC1 pathway
REACT_216637
MPS IIIA - Sanfilippo syndrome A pathway
REACT_271434
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_268431
Defective PAPSS2 causes SEMD-PA pathway
REACT_221274
Metabolism of carbohydrates pathway
REACT_205556
Glycosaminoglycan metabolism pathway
REACT_270533
Defective CHSY1 causes TPBS pathway
REACT_204575
Glycosphingolipid metabolism pathway
REACT_208011
Chondroitin sulfate/dermatan sulfate metabolism pathway
REACT_204212
MPS I - Hurler syndrome pathway
REACT_217291
Keratan sulfate degradation pathway
REACT_224609
MPS IIID - Sanfilippo syndrome D pathway
REACT_268552
Diseases associated with glycosaminoglycan metabolism pathway
REACT_224746
Hyaluronan uptake and degradation pathway
REACT_226837
MPS IX - Natowicz syndrome pathway
REACT_219973
Myoclonic epilepsy of Lafora pathway
REACT_208504
MPS II - Hunter syndrome pathway
REACT_220414
MPS VII - Sly syndrome pathway
REACT_268766
Defective B3GAT3 causes JDSSDHD pathway
REACT_208051
Mucopolysaccharidoses pathway
REACT_268446
Diseases of glycosylation pathway
REACT_271537
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_222556
Sphingolipid metabolism pathway
REACT_219933
Metabolism of lipids and lipoproteins pathway
REACT_220816
MPS IIIC - Sanfilippo syndrome C pathway
REACT_211129
Glycogen storage diseases pathway
REACT_212403
MPS IIIB - Sanfilippo syndrome B pathway
REACT_270161
Defective CHST3 causes SEDCJD pathway
REACT_219139
Metabolism pathway
REACT_269058
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_217191
CS/DS degradation pathway
REACT_269825
Defective SLC26A2 causes chondrodysplasias pathway
REACT_270962
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_214749
Hyaluronan metabolism pathway
REACT_218915
MPS IV - Morquio syndrome A pathway
REACT_217121
MPS IV - Morquio syndrome B pathway
REACT_215576
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_207087
Disease pathway
REACT_210040
Keratan sulfate/keratin metabolism pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_222247
Glycosaminoglycan metabolism pathway
REACT_189085
Disease pathway
REACT_198960
Keratan sulfate degradation pathway
REACT_211754
MPS IV - Morquio syndrome B pathway
REACT_225132
MPS IV - Morquio syndrome A pathway
REACT_198981
CS/DS degradation pathway
REACT_198988
Chondroitin sulfate/dermatan sulfate metabolism pathway
REACT_199008
Glycosphingolipid metabolism pathway
REACT_218935
MPS IIIC - Sanfilippo syndrome C pathway
REACT_188937
Metabolism pathway
REACT_245163
Sphingolipid metabolism pathway
REACT_224474
MPS I - Hurler syndrome pathway
REACT_227993
MPS IIID - Sanfilippo syndrome D pathway
REACT_269282
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_270278
Diseases of glycosylation pathway
REACT_232291
Metabolism of lipids and lipoproteins pathway
REACT_268957
Defective CHSY1 causes TPBS pathway
REACT_268952
Defective B3GAT3 causes JDSSDHD pathway
REACT_215504
MPS II - Hunter syndrome pathway
REACT_269263
Diseases associated with glycosaminoglycan metabolism pathway
REACT_196551
Hyaluronan metabolism pathway
REACT_196554
Hyaluronan uptake and degradation pathway
REACT_219946
MPS IX - Natowicz syndrome pathway
REACT_203949
Glycogen storage diseases pathway
REACT_208416
MPS VII - Sly syndrome pathway
REACT_271176
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_269050
Defective CHST3 causes SEDCJD pathway
REACT_215179
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_268667
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_198580
Keratan sulfate/keratin metabolism pathway
REACT_221180
MPS IIIB - Sanfilippo syndrome B pathway
REACT_221189
MPS IIIA - Sanfilippo syndrome A pathway
REACT_270086
Defective PAPSS2 causes SEMD-PA pathway
REACT_271374
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_217438
Mucopolysaccharidoses pathway
REACT_269577
Defective CHST6 causes MCDC1 pathway
REACT_203841
Myoclonic epilepsy of Lafora pathway
REACT_248571
Metabolism of carbohydrates pathway
REACT_270174
Defective EXT2 causes exostoses 2 pathway
REACT_269276
Defective SLC26A2 causes chondrodysplasias pathway
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
mmu00520
Amino sugar and nucleotide sugar metabolism pathway
mmu00604
Glycosphingolipid biosynthesis pathway
mmu00511
Other glycan degradation pathway
mmu00531
Glycosaminoglycan degradation pathway
mmu00603
Glycosphingolipid biosynthesis pathway
mmu04142
Lysosome pathway
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 Q0V8R6
TrEMBL
UniProt Splice Variant
Entrez Gene 504468
UniGene Bt.6065
RefSeq NM_001075164
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BT026152
GenPept ABG66991
RNA Seq Atlas 504468

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) 

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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