InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: HEXA

Summary

InnateDB Gene

IDBG-239945.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HEXA

Gene Name

hexosaminidase A (alpha polypeptide)

Synonyms

TSD

Species

Homo sapiens

Ensembl Gene

ENSG00000213614

Encoded Proteins

IDBP-20523

hexosaminidase A (alpha polypeptide)

IDBP-745148

IDBP-745468

IDBP-744848

IDBP-745568

IDBP-746813

IDBP-745896

IDBP-744730

IDBP-808797

hexosaminidase A (alpha polypeptide)

IDBP-745606

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 15:72340919-72376476

Strand

Reverse strand

Band

q23

Transcripts

ENST00000268097	ENSP00000268097
ENST00000568777
ENST00000569116
ENST00000569509
ENST00000569410	ENSP00000457125
ENST00000565873
ENST00000563908
ENST00000566304	ENSP00000455114
ENST00000567411	ENSP00000455545
ENST00000567027	ENSP00000457521
ENST00000567159	ENSP00000456489
ENST00000564677
ENST00000566672	ENSP00000457037
ENST00000563762	ENSP00000456346
ENST00000567213	ENSP00000478217
ENST00000568260	ENSP00000458128

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	26 [view]
Protein-Protein	25 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004563	beta-N-acetylhexosaminidase activity
GO:0046982	protein heterodimerization activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006665	sphingolipid metabolic process
GO:0006687	glycosphingolipid metabolic process
GO:0008219	cell death
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:0042339	keratan sulfate metabolic process
GO:0042340	keratan sulfate catabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0016020	membrane
GO:0043202	lysosomal lumen
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000025232

View Gene Order

ENSBTAG00000012981

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

RefSeq

NM_000520

HUGO

OMIM

CCDS

CCDS10243

HPRD

06040

IMGT

EMBL

GenPept

RNA Seq Atlas