InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HEXB

Summary

InnateDB Protein

IDBP-28444.5

Last Modified

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

Gene Symbol

HEXB

Protein Name

hexosaminidase B (beta polypeptide)

Synonyms

ENC-1AS; HEL-248;

Species

Homo sapiens

Ensembl Protein

ENSP00000261416

InnateDB Gene

IDBG-28442 (HEXB)

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.

Subcellular Localization

Lysosome.

Disease Associations

GM2-gangliosidosis 2 (GM2G2) [MIM:268800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. {ECO:0000269PubMed:1531140, ECO:0000269PubMed:1720305, ECO:0000269PubMed:7557963, ECO:0000269PubMed:7626071, ECO:0000269PubMed:7633435, ECO:0000269PubMed:8357844, ECO:0000269PubMed:8950198, ECO:0000269PubMed:9401004, ECO:0000269PubMed:9694901, ECO:0000269PubMed:9856491}. 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 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

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