Hexb hexosaminidase B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hexbprovided by MGI
Official Full Name: hexosaminidase Bprovided by MGI
Primary source: MGI:MGI:96074
See related: Ensembl:ENSMUSG00000021665 AllianceGenome:MGI:96074
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables beta-N-acetylhexosaminidase activity and identical protein binding activity. Involved in several processes, including astrocyte cell migration; glycosaminoglycan catabolic process; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including ganglioside catabolic process; penetration of zona pellucida; and sensory perception of sound. Located in extracellular space; membrane; and secretory granule. Is active in lysosome. Is expressed in several structures, including endocrine gland; eye; genitourinary system; hemolymphoid system; and nervous system. Used to study Sandhoff disease. Human ortholog(s) of this gene implicated in Sandhoff disease and spinal muscular atrophy. Orthologous to human HEXB (hexosaminidase subunit beta). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in colon adult (RPKM 103.1), genital fat pad adult (RPKM 82.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 D1; 13 50.66 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (97312839..97334865, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (97176331..97198357, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

mast cell granule beta-hexosaminidase is crucial for defense against bacterial invasion, but is not involved in the allergic response. the bactericidal mechanism of beta-hexosaminidase involves degradation of bacterial cell wall peptidoglycan.
Title: Does β-hexosaminidase function only as a degranulation indicator in mast cells? The primary role of β-hexosaminidase in mast cell granules.
transgenic inducible strains of Sandhoff disease mice provide a dynamic platform with which to explore the pathophysiological sequelae immediately after loss of neuronal lysosomal beta-hexosaminidase activity.
Title: Characterization of inducible models of Tay-Sachs and related disease.
Thymic involution and corticosterone level in Sandhoff disease model mice.
Title: Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis.
These data suggest that the restricted ketogenic diet and N-butyldeoxynojirimycin may be a potential combinatorial therapy for Sandhoff disease.
Title: Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice.
There was no change in the level of GM2 storage and pro-apoptotic activity or astrocyte activation in HexB-/- knockout mice
Title: Peripheral blood mononuclear cell infiltration and neuroinflammation in the HexB-/- mouse model of neurodegeneration.
Mannose receptor (-/-) liver sinusoidal endothelial cells had markedly and significantly reduced enzyme activities for four out of five lysosomal enzymes tested, i.e., cathepsin-D, alpha-mannosidase, beta-hexosaminidase and arylsulfatase.
Title: Liver sinusoidal endothelial cells depend on mannose receptor-mediated recruitment of lysosomal enzymes for normal degradation capacity.
Beta-hexosaminidase is a peptidoglycan hydrolase that surprisingly exerts its mycobactericidal effect at the macrophage plasma membrane during mycobacteria-induced secretion of lysosomes
Title: Role for lysosomal enzyme beta-hexosaminidase in the control of mycobacteria infection.
The bicistronic beta-hexosaminidase vector can reverse the biochemical defects and down-stream consequences in Sandhoff neurons, reinforcing its potential for Sandhoff disease in vivo gene therapy.
Title: Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
Data suggest that pathogenesis of Sandhoff disease (heritable beta-hexosaminidase deficiency) involves an increase in macrophage-inflammatory protein 1alpha that induces monocytes to infiltrate the CNS and trigger neuronal apoptosis.
Title: Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (7) 1 citation
Spontaneous (1) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Y00964 (e-PCR)
- UniSTS:160332

Hexb (e-PCR), detects polymorphism
- UniSTS:508010

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylglucosaminyltransferase activity	IEA Inferred from Electronic Annotation more info
enables acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables beta-N-acetylglucosaminidase activity	ISO Inferred from Sequence Orthology more info
enables beta-N-acetylhexosaminidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta-N-acetylhexosaminidase activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-N-acetylhexosaminidase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables beta-N-acetylhexosaminidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables beta-N-acetylhexosaminidase activity	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	ISO Inferred from Sequence Orthology more info
enables hexosaminidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hexosaminidase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in N-acetylglucosamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in N-glycan processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in astrocyte cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondroitin sulfate catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dermatan sulfate catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ganglioside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ganglioside catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ganglioside catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ganglioside catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycosaminoglycan metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within glycosaminoglycan metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glycosaminoglycan metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosaminoglycan metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycosphingolipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hyaluronan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular calcium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid storage	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lipid storage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosome organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of location in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male courtship behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron cellular homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oligosaccharide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within penetration of zona pellucida	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phospholipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cellular metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within sexual reproduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in single fertilization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within single fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in azurophil granule	IEA Inferred from Electronic Annotation more info
located_in azurophil granule	ISO Inferred from Sequence Orthology more info
part_of beta-N-acetylhexosaminidase complex	ISO Inferred from Sequence Orthology more info
part_of beta-N-acetylhexosaminidase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cortical granule	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal lumen	NAS Non-traceable Author Statement more info	PubMed
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: beta-hexosaminidase subunit beta

Names: N-acetyl-beta-glucosaminidase subunit beta; beta-N-acetylhexosaminidase subunit beta; hexosaminidase subunit B

NP_034552.1

EC 3.2.1.52

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010422.2 → NP_034552.1 beta-hexosaminidase subunit beta precursor

See identical proteins and their annotated locations for NP_034552.1

Status: VALIDATED

Source sequence(s)

AK168825, BY145642, CD775639

Consensus CDS

CCDS26709.1

UniProtKB/Swiss-Prot

P20060

UniProtKB/TrEMBL

Q3TXR9

Related

ENSMUSP00000022169.8, ENSMUST00000022169.10

Conserved Domains (2) summary

cd06562
Location:179 → 519

GH20_HexA_HexB-like; Beta-N-acetylhexosaminidases catalyze the removal of beta-1,4-linked N-acetyl-D-hexosamine residues from the non-reducing ends of N-acetyl-beta-D-hexosaminides including N-acetylglucosides and N-acetylgalactosides. The hexA and hexB genes encode the ...

pfam14845
Location:35 → 157

Glycohydro_20b2; beta-acetyl hexosaminidase like