GlyCosmos Portal

Annotation

Keyword

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

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q5URX0	Beta-N-acetylhexosaminidase subunit beta N-acetyl-beta-glucosaminidase subunit beta
P07686	Beta-N-acetylhexosaminidase subunit beta Cervical cancer proto-oncogene 7 protein N-acetyl-beta-glucosaminidase subunit beta
A0A024RAJ6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 33 in total

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

GO Hierarchy

biological process

cellular process [inference]

ensheathment of neurons [inference]

axon ensheathment [inference]

myelination

metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process

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]

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 catabolic process [inference]

oligosaccharide 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]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

N-glycan processing

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

N-glycan processing

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

glycosaminoglycan metabolic 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]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

N-glycan processing

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan catabolic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

glycoprotein biosynthetic process [inference]

N-glycan processing

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

primary metabolic process [inference]

carbohydrate metabolic process

oligosaccharide metabolic process [inference]

oligosaccharide catabolic process

carbohydrate catabolic process [inference]

oligosaccharide catabolic process

lipid metabolic process

phospholipid metabolic process [inference]

phospholipid biosynthetic 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 biosynthetic process [inference]

phospholipid biosynthetic 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]

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan catabolic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

glycoprotein biosynthetic process [inference]

N-glycan processing

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

carbohydrate derivative metabolic process

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

glycosaminoglycan metabolic process

glycosaminoglycan catabolic process [inference]

hyaluronan catabolic process

hyaluronan metabolic process [inference]

hyaluronan catabolic process

amino sugar metabolic process [inference]

N-acetylglucosamine metabolic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan catabolic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

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]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

ganglioside catabolic process

carbohydrate derivative biosynthetic process [inference]

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 process involved in reproduction in multicellular organism [inference]

germ cell development [inference]

oogenesis

cellular developmental process [inference]

cell development [inference]

germ cell development [inference]

oogenesis

cell motility [inference]

cell migration [inference]

glial cell migration [inference]

astrocyte cell migration

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

reproductive process [inference]

developmental process involved in reproduction [inference]

germ cell development [inference]

oogenesis

fertilization [inference]

single fertilization

multicellular organismal reproductive process [inference]

gamete generation [inference]

female gamete generation [inference]

oogenesis

penetration of zona pellucida

reproductive behavior [inference]

mating behavior [inference]

courtship behavior [inference]

male courtship behavior

male mating behavior [inference]

male courtship behavior

cellular process involved in reproduction in multicellular organism [inference]

germ cell development [inference]

oogenesis

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]

neuromuscular process controlling balance

behavior [inference]

locomotory behavior

reproductive behavior [inference]

mating behavior [inference]

courtship behavior [inference]

male courtship behavior

male mating behavior [inference]

male courtship behavior

multi-multicellular organism process [inference]

penetration of zona pellucida

developmental process [inference]

developmental process involved in reproduction [inference]

germ cell development [inference]

oogenesis

anatomical structure development [inference]

cell development [inference]

germ cell development [inference]

oogenesis

system development [inference]

skeletal system development

cellular developmental process [inference]

cell development [inference]

germ cell development [inference]

oogenesis

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

neuron cellular homeostasis

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

monoatomic cation homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

calcium ion homeostasis [inference]

intracellular calcium ion homeostasis

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

inorganic ion homeostasis [inference]

calcium ion homeostasis [inference]

intracellular calcium ion homeostasis

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of developmental process [inference]

regulation of anatomical structure morphogenesis [inference]

regulation of cell morphogenesis [inference]

regulation of cell shape

regulation of cellular process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of biological quality [inference]

regulation of cell shape

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GO Term	Evidence Code	PMID
acrosomal vesicle	IEA
extracellular region	TAS
extracellular region	IBA
extracellular region	IEA
lysosome	EXP

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]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

intracellular organelle lumen [inference]

vacuolar lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

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]

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]

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **6 - 10** of 16 in total

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GO Term	Evidence Code	PMID
beta-N-acetylhexosaminidase activity	IEA
protein binding	IPI
acetylglucosaminyltransferase activity	IDA
acetylglucosaminyltransferase activity	IEA
hexosaminidase activity	IEA

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

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds

hexosaminidase activity

beta-N-acetylhexosaminidase activity

beta-N-acetylglucosaminidase activity

binding [inference]

protein binding

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000049860

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 **all 2** entries
DO ID	Disease Name	Source
DOID:3323	Sandhoff disease	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 77 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000158	Macroglossia
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000618	Blindness
HP:0000729	Autistic behavior
HP:0000739	Anxiety
HP:0000802	Impotence
HP:0000966	Hypohidrosis

Displaying **all 4** entries
Disease ID	Disease Name
ORPHA:309155	Sandhoff disease, infantile form
ORPHA:309169	Sandhoff disease, adult form
ORPHA:309162	Sandhoff disease, juvenile form
OMIM:268800	Sandhoff disease

PubChem Disease

GHR Health Conditions

Sandhoff disease

MedGen Diseases

Sandhoff disease

OMIM Phenotypes

SANDHOFF DISEASE

KEGG Diseases

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000083
Gene Name: hexosaminidase B (beta polypeptide)

Ortholog

Displaying **all 6** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	15212	MGI:96074
Rattus norvegicus	294673	RGD:1307607
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

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements