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Tchem
HEXA
Beta-hexosaminidase subunit alpha

Protein Summary
Description
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. This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [pro ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000268097
  • ENSP00000268097
  • ENSG00000213614

Symbol
  • TSD
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.97
kinase perturbation
0.88
transcription factor perturbation
0.88
protein domain
0.85
transcription factor binding site profile
0.85


Related Tools
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 78.18   (req: < 5)
Gene RIFs: 34   (req: <= 3)
Antibodies: 456   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 78.18   (req: >= 5)
Gene RIFs: 34   (req: > 3)
Antibodies: 456   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 1
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Active Ligands (1)
1 – 1 of 1
CHEMBL257158
chemical structure image
Orthologs (8)
1 – 5 of 8
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Mouse
MGI:96073
15211
Rat
RGD:2792
300757
Dog
hexosaminidase subunit alpha
487633
Horse
hexosaminidase subunit alpha
100063584
Cow
hexosaminidase subunit alpha
504468
Species
Name
OMA
EggNOG
Inparanoid
Mouse
Rat
Dog
hexosaminidase subunit alpha
Horse
hexosaminidase subunit alpha
Cow
hexosaminidase subunit alpha
Protein Structure (3 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P06865-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 3 of 3
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (27)
CS/DS degradation (R-HSA-2024101)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 16
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
CS/DS degradation
Reactome
Chondroitin sulfate/dermatan sulfate metabolism
Reactome
Defective HEXA causes GM2G1
Reactome
Disease
Reactome
Diseases associated with glycosaminoglycan metabolism
Name
Explore in Pharos
Explore in Source
CS/DS degradation
Chondroitin sulfate/dermatan sulfate metabolism
Defective HEXA causes GM2G1
Disease
Diseases associated with glycosaminoglycan metabolism
Protein-Protein Interactions (72)
1 – 10 of 72
DHRS4
Tbio
Family: Enzyme
Novelty: 0.02992279
p_int: 0.997552368
p_ni: 0.002447628
p_wrong: 4e-9
Score: 0.194
Data Source: BioPlex,STRINGDB
TERF2
Tbio
Family: TF
Novelty: 0.01003649
p_int: 0.983617818
p_ni: 0.016356464
p_wrong: 0.000025719
Score: 0.214
Data Source: BioPlex,STRINGDB
HEXB
Tchem
Family: Enzyme
Novelty: 0.0085045
p_int: 0.959308414
p_ni: 0.040691587
Score: 0.994
Data Source: BioPlex,Reactome,STRINGDB
PLA2G2D
Tchem
Family: Enzyme
Novelty: 0.01212618
p_int: 0.900347878
p_ni: 0.099652122
Data Source: BioPlex
GM2A
Tbio
Novelty: 0.00574276
Score: 0.989
Data Source: Reactome,STRINGDB
GLA
Tclin
Family: Enzyme
Novelty: 0.00075604
Score: 0.968
Data Source: STRINGDB
GLB1
Tchem
Family: Enzyme
Novelty: 0.00241713
Score: 0.957
Data Source: STRINGDB
NAGA
Tbio
Family: Enzyme
Novelty: 0.00591296
Score: 0.953
Data Source: STRINGDB
CHIT1
Tbio
Family: Enzyme
Novelty: 0.00113383
Score: 0.949
Data Source: STRINGDB
HEXD
Tbio
Family: Enzyme
Novelty: 0.0470643
Score: 0.94
Data Source: STRINGDB
Publication Statistics
PubMed Score  78.18

PubMed score by year
PubTator Score  602.43

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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