InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HEXA

Summary

InnateDB Protein

IDBP-20523.6

Last Modified

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

Gene Symbol

HEXA

Protein Name

hexosaminidase A (alpha polypeptide)

Synonyms

TSD;

Species

Homo sapiens

Ensembl Protein

ENSP00000268097

InnateDB Gene

IDBG-239945 (HEXA)

Protein Structure

UniProt Annotation

Function

Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity.

Subcellular Localization

Lysosome.

Disease Associations

GM2-gangliosidosis 1 (GM2G1) [MIM:272800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset). {ECO:0000269PubMed:1301189, ECO:0000269PubMed:1301190, ECO:0000269PubMed:1302612, ECO:0000269PubMed:14566483, ECO:0000269PubMed:1532289, ECO:0000269PubMed:1837283, ECO:0000269PubMed:2144098, ECO:0000269PubMed:2522679, ECO:0000269PubMed:2970528, ECO:0000269PubMed:7717398, ECO:0000269PubMed:7837766, ECO:0000269PubMed:7898712, ECO:0000269PubMed:7951261, ECO:0000269PubMed:8445615, ECO:0000269PubMed:8490625, ECO:0000269PubMed:8581357, ECO:0000269PubMed:8757036, ECO:0000269PubMed:9150157, ECO:0000269PubMed:9338583, ECO:0000269PubMed:9375850, ECO:0000269PubMed:9401008, ECO:0000269PubMed:9603435}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR015882 Beta-hexosaminidase, bacteial type, N-terminal
IPR015883 Glycoside hydrolase family 20, catalytic core
IPR017853 Glycoside hydrolase, superfamily
IPR025705 Beta-hexosaminidase
IPR029018 Chitobiase/beta-hexosaminidase domain 2-like

PFAM

PF02838
PF00728

PRINTS

PR00738

PIRSF

PIRSF001093

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt