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Protein

Beta-hexosaminidase subunit alpha

Gene

HEXA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

Catalytic activityi

Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei323Proton donorBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000140495-MONOMER
BRENDAi3.2.1.169 2681
ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
R-HSA-2022857 Keratan sulfate degradation
R-HSA-2024101 CS/DS degradation
R-HSA-2160916 Hyaluronan uptake and degradation
R-HSA-3656234 Defective HEXA causes GM2G1
SABIO-RKiP06865

Protein family/group databases

CAZyiGH20 Glycoside Hydrolase Family 20

Chemistry databases

SwissLipidsiSLP:000001416 [P06865-1]

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-hexosaminidase subunit alpha (EC:3.2.1.52)
Alternative name(s):
Beta-N-acetylhexosaminidase subunit alpha
Short name:
Hexosaminidase subunit A
N-acetyl-beta-glucosaminidase subunit alpha
Gene namesi
Name:HEXA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000213614.9
HGNCiHGNC:4878 HEXA
MIMi606869 gene
neXtProtiNX_P06865

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

GM2-gangliosidosis 1 (GM2G1)25 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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).
See also OMIM:272800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00320225P → S in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_00320339L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907979EnsemblClinVar.1
Natural variantiVAR_077497114E → K in GM2G1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748190164EnsemblClinVar.1
Natural variantiVAR_022439127L → F in GM2G1. 1 Publication1
Natural variantiVAR_003204127L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907975EnsemblClinVar.1
Natural variantiVAR_003205166R → G in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_003206170R → Q in GM2G1; infantile; inactive or unstable protein. 1 PublicationCorresponds to variant dbSNP:rs121907957EnsemblClinVar.1
Natural variantiVAR_003207170R → W in GM2G1; infantile. 2 PublicationsCorresponds to variant dbSNP:rs121907972EnsemblClinVar.1
Natural variantiVAR_003208178R → C in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs121907953EnsemblClinVar.1
Natural variantiVAR_003209178R → H in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs28941770EnsemblClinVar.1
Natural variantiVAR_003210178R → L in GM2G1; infantile. Corresponds to variant dbSNP:rs28941770EnsemblClinVar.1
Natural variantiVAR_003211180Y → H in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs28941771EnsemblClinVar.1
Natural variantiVAR_003212192V → L in GM2G1; infantile. Corresponds to variant dbSNP:rs387906310EnsemblClinVar.1
Natural variantiVAR_003213196N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs753862880Ensembl.1
Natural variantiVAR_003214197K → T in GM2G1. Corresponds to variant dbSNP:rs121907973EnsemblClinVar.1
Natural variantiVAR_003215200V → M in GM2G1. Corresponds to variant dbSNP:rs1800429EnsemblClinVar.1
Natural variantiVAR_003216204H → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907976EnsemblClinVar.1
Natural variantiVAR_003217210S → F in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907961EnsemblClinVar.1
Natural variantiVAR_003218211F → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907974EnsemblClinVar.1
Natural variantiVAR_022440226S → F in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs769866128Ensembl.1
Natural variantiVAR_003221250G → D in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907959EnsemblClinVar.1
Natural variantiVAR_003222250G → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1057521137Ensembl.1
Natural variantiVAR_003223252R → H in GM2G1. Corresponds to variant dbSNP:rs762255098Ensembl.1
Natural variantiVAR_017188252R → L in GM2G1. 1 Publication1
Natural variantiVAR_003224258D → H in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907971EnsemblClinVar.1
Natural variantiVAR_022441269G → D in GM2G1. 1 Publication1
Natural variantiVAR_003225269G → S in GM2G1; late onset; inhibited subunit dissociation; loss of processing to a mature form; increased degradation. 2 PublicationsCorresponds to variant dbSNP:rs121907954EnsemblClinVar.1
Natural variantiVAR_003226279S → P in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_017189295N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs199578185Ensembl.1
Natural variantiVAR_003227301M → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907977EnsemblClinVar.1
Natural variantiVAR_003228304Missing in GM2G1; infantile; Moroccan Jewish. 1 Publication1
Natural variantiVAR_022442314D → V in GM2G1. 1 Publication1
Natural variantiVAR_003229320Missing in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_077498322D → N in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415EnsemblClinVar.1
Natural variantiVAR_077499322D → Y in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415EnsemblClinVar.1
Natural variantiVAR_003230335I → F in GM2G1. 1 Publication1
Natural variantiVAR_003231347 – 352Missing in GM2G1. 1 Publication6
Natural variantiVAR_003232391V → M in GM2G1; mild; associated with spinal muscular atrophy. 1 Publication1
Natural variantiVAR_077500393R → P in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs370266293EnsemblClinVar.1
Natural variantiVAR_003234420W → C in GM2G1; infantile; inactive protein. 2 PublicationsCorresponds to variant dbSNP:rs121907958EnsemblClinVar.1
Natural variantiVAR_003236454G → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907978EnsemblClinVar.1
Natural variantiVAR_003237455G → R in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_003238458C → Y in GM2G1; infantile. 1 Publication1
Natural variantiVAR_077501462E → V in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs863225434EnsemblClinVar.1
Natural variantiVAR_003239474W → C in GM2G1; subacute. 1 PublicationCorresponds to variant dbSNP:rs121907981EnsemblClinVar.1
Natural variantiVAR_077502478G → R in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1057519467Ensembl.1
Natural variantiVAR_003240482E → K in GM2G1; infantile; loss of processing to a mature form; increased degradation. 3 Publications