LMPD Database

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LMP002265

UniProt Annotations

Entry Information
Gene Namehexosaminidase A (alpha polypeptide)
Protein EntryHEXA_HUMAN
UniProt IDP06865
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P06865-1; Sequence=Displayed; Name=2; IsoId=P06865-2; Sequence=VSP_056657, VSP_056658, VSP_056659; Note=No experimental confirmation available.;
Catalytic ActivityHydrolysis of terminal non-reducing N-acetyl- D-hexosamine residues in N-acetyl-beta-D-hexosaminides.
DiseaseGM2-gangliosidosis 1 (GM2G1) [MIM
FunctionResponsible 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.
InteractionP00519:ABL1; NbExp=1; IntAct=EBI-723519, EBI-375543; P46108:CRK; NbExp=1; IntAct=EBI-723519, EBI-886; P06241:FYN; NbExp=1; IntAct=EBI-723519, EBI-515315;
PtmN-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2). {ECO
SimilarityBelongs to the glycosyl hydrolase 20 family.
Subcellular LocationLysosome.
SubunitThere are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit.
Web ResourceName=HEXAdb; Note=HEXA mutation database; URL="http://www.hexdb.mcgill.ca/?Topic=HEXAdb";