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hexosaminidase subunit alpha

Summary

Gene Symbol

HEXA

Aliases

GM2 gangliosidosis
Tay Sachs disease
beta-hexosaminidase subunit alpha

Organism

Homo sapiens (human)

External Links

NCBI Gene

3073

HGNC

4878

KEGG Gene ID

hsa:3073

PubChem

3073

Alliance of Genome Resources

HGNC:4878

JoGo

HEXA

TogoVar

HEXA

Annotation

Keyword

3D-structure
Alternative splicing
Direct protein sequencing
Disease variant
Disulfide bond
Gangliosidosis
Glycoprotein
Glycosidase
Lipid metabolism
Lysosome
Neurodegeneration
Proteomics identification
Reference proteome
Signal
Zymogen

Proteins

Displaying **all 4** entries
UniProt	Protein Name
H3BP20
A0A0S2Z3W3	Beta-N-acetylhexosaminidase subunit alpha N-acetyl-beta-glucosaminidase subunit alpha
P06865	Beta-N-acetylhexosaminidase subunit alpha N-acetyl-beta-glucosaminidase subunit alpha
B4DVA7

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 22 in total

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GO Term	Evidence Code	PMID
skeletal system development
carbohydrate metabolic process	IEA
glycosaminoglycan biosynthetic process	IDA
N-glycan processing
lipid metabolic process

GO Hierarchy

biological process

cellular process [inference]

ensheathment of neurons [inference]

axon ensheathment [inference]

myelination

metabolic process [inference]

catabolic process [inference]

macromolecule catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

lipid catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

N-glycan processing

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

N-glycan processing

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

hyaluronan metabolic process [inference]

hyaluronan catabolic process

macromolecule catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

N-glycan processing

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein biosynthetic process [inference]

N-glycan processing

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

primary metabolic process [inference]

carbohydrate metabolic process

lipid metabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

lipid catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

ceramide catabolic process [inference]

ganglioside catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein biosynthetic process [inference]

N-glycan processing

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

carbohydrate derivative metabolic process

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

hyaluronan metabolic process [inference]

hyaluronan catabolic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein biosynthetic process [inference]

N-glycan processing

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

N-glycan processing

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

ganglioside metabolic process [inference]

ganglioside catabolic process

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vacuole organization [inference]

lytic vacuole organization [inference]

lysosome organization

nutrient storage [inference]

lipid storage

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

neuromuscular process [inference]

behavior [inference]

locomotory behavior [inference]

adult locomotory behavior [inference]

adult walking behavior

walking behavior [inference]

adult walking behavior

adult behavior [inference]

adult locomotory behavior [inference]

adult walking behavior

developmental process [inference]

anatomical structure morphogenesis [inference]

cell morphogenesis [inference]

cell morphogenesis involved in neuron differentiation

anatomical structure development [inference]

system development [inference]

skeletal system development

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
extracellular region	IDA
extracellular region	IBA
obsolete extracellular space
lysosome	IBA
lysosome	IEA

GO Hierarchy

cellular component

protein-containing complex [inference]

catalytic complex [inference]

beta-N-acetylhexosaminidase complex

cellular anatomical structure [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

azurophil granule

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

primary lysosome [inference]

azurophil granule

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

azurophil granule

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

primary lysosome [inference]

azurophil granule

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

azurophil granule

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
beta-N-acetylhexosaminidase activity	EXP
beta-N-acetylhexosaminidase activity	TAS
beta-N-acetylhexosaminidase activity	IDA
beta-N-acetylhexosaminidase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds

hexosaminidase activity [inference]

beta-N-acetylhexosaminidase activity

binding [inference]

protein binding

protein dimerization activity [inference]

protein heterodimerization activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Beta-hexosaminidase

Functional Category

G: Carbohydrate transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
beta-N-acetylhexosaminidase activity
glycosaminoglycan metabolic process
hydrolase activity, acting on glycosyl bonds
hydrolase activity

Displaying **all 5** entries
InterPro
Beta-hexosaminidase, eukaryotic type, N-terminal
Beta-hexosaminidase-like, domain 2
Beta-hexosaminidase
Glycoside hydrolase family 20, catalytic domain
Glycoside hydrolase superfamily

Human Protein Atlas

ENSG00000213614

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K12373

Name

hexosaminidase [EC:3.2.1.52]

References

7721787

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R05963	3.2.1.52	G00061MO	G00059MO
R06004	3.2.1.52	G79389NT	G91237TK

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:3320	Tay-Sachs disease	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000618	Blindness
HP:0000726	Dementia
HP:0000741	Apathy
HP:0000980	Pallor
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001276	Hypertonia
HP:0001290	Generalized hypotonia
HP:0002267	Exaggerated startle response

Displaying 1 entry
Disease ID	Disease Name
OMIM:272800	Tay-Sachs disease

PubChem Disease

GHR Health Conditions

Tay-Sachs disease

MedGen Diseases

Tay-Sachs disease

OMIM Phenotypes

TAY-SACHS DISEASE; TSD

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002265
Gene Name: hexosaminidase A (alpha polypeptide)

Ortholog

Displaying **all 6** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	15211	MGI:96073
Rattus norvegicus	300757	RGD:2792
Caenorhabditis elegans	180533	WB:WBGene00020509
Drosophila melanogaster	31808	FB:FBgn0041629
Drosophila melanogaster	38528	FB:FBgn0041630
Drosophila melanogaster	250735	FB:FBgn0045063

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements