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Protein Page:
HEXA (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
HEXA 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. Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1); also known as Tay-Sachs disease. GM2- gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe), juvenile and adult (late onset). Belongs to the glycosyl hydrolase 20 family. Note: This description may include information from UniProtKB.
Protein type: Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Glycan Metabolism - other glycan degradation; EC 3.2.1.52; Carbohydrate Metabolism - amino sugar and nucleotide sugar; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Hydrolase; Glycan Metabolism - glycosaminoglycan degradation
Cellular Component: lysosomal lumen; membrane
Molecular Function: protein heterodimerization activity; beta-N-acetylhexosaminidase activity
Biological Process: keratan sulfate metabolic process; myelination; cell death; sphingolipid metabolic process; glycosaminoglycan metabolic process; ganglioside catabolic process; adult walking behavior; hyaluronan catabolic process; chondroitin sulfate metabolic process; neuromuscular process controlling posture; sequestering of lipid; sensory perception of sound; lysosome organization and biogenesis; sexual reproduction; neuron morphogenesis during differentiation; chondroitin sulfate catabolic process; carbohydrate metabolic process; glycosphingolipid metabolic process; keratan sulfate catabolic process; neuromuscular process controlling balance; hyaluronan metabolic process; skeletal development
Reference #:  P06865 (UniProtKB)
Alt. Names/Synonyms: Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; HEXA; hexosaminidase A (alpha polypeptide); Hexosaminidase subunit A; MGC99608; N-acetyl-beta-glucosaminidase subunit alpha; TSD
Gene Symbols: HEXA
Molecular weight: 60,703 Da
Basal Isoelectric point: 5.04  Predict pI for various phosphorylation states
Select Structure to View Below

HEXA

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 T189-p PLSSILDtLDVMAYN
0 2 K197 LDVMAYNKLNVFHWH
0 1 S331-p VDFTCWKsNPEIQDF
  mouse

 
T189 PLSSILDTLDVMAYN
K197-ac LDVMAYNkFNVFHWH
S331 VDFTCWKSNPNIQAF
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