Hexa hexosaminidase A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hexaprovided by MGI
Official Full Name: hexosaminidase Aprovided by MGI
Primary source: MGI:MGI:96073
See related: Ensembl:ENSMUSG00000025232 AllianceGenome:MGI:96073
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
Also known as: Hex-1
Summary: This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mice lacking the encoded protein exhibit accumulation of gangliosides in the brain and membranous cytoplasmic bodies in neurons. Certain mutations in the human ortholog of this gene cause Tay-Sachs disease. [provided by RefSeq, Aug 2016]
Expression: Ubiquitous expression in placenta adult (RPKM 87.6), colon adult (RPKM 64.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 B; 9 32.02 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (59446966..59472392)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (59539540..59565109)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Hexosaminidase A (HEXA) regulates hepatic sphingolipid and lipoprotein metabolism in mice.
Title: Hexosaminidase A (HEXA) regulates hepatic sphingolipid and lipoprotein metabolism in mice.
Neu4 is not the only sialidase contributing to the metabolic bypass in Hexa(-/-) mice.
Title: Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH134318 (e-PCR)
- UniSTS:217600

Hexa (e-PCR), detects polymorphism
- UniSTS:508009

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetyl-beta-D-galactosaminidase activity	IEA Inferred from Electronic Annotation more info
enables acetylglucosaminyltransferase 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 hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, hydrolyzing O-glycosyl compounds	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell morphogenesis involved in neuron differentiation	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 glycosaminoglycan biosynthetic process	ISO Inferred from Sequence Orthology 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
involved_in hyaluronan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
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 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 metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within myelination	IGI Inferred from Genetic Interaction 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 posture	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
acts_upstream_of_or_within skeletal system development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in azurophil granule	ISO Inferred from Sequence Orthology more info
part_of beta-N-acetylhexosaminidase complex	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
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 alpha

Names: N-acetyl-beta-glucosaminidase subunit alpha; beta-N-acetylhexosaminidase subunit alpha; hexosaminidase subunit A

NP_001397353.1

EC 3.2.1.52

NP_034551.2

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_001410424.1 → NP_001397353.1 beta-hexosaminidase subunit alpha isoform 2

Status: VALIDATED

Source sequence(s)

AC123817
NM_010421.6 → NP_034551.2 beta-hexosaminidase subunit alpha isoform 1 preproprotein

See identical proteins and their annotated locations for NP_034551.2

Status: VALIDATED

Source sequence(s)

AC123817

Consensus CDS

CCDS23250.1

UniProtKB/Swiss-Prot

P29416, Q64246, Q91XG3

UniProtKB/TrEMBL

Q3TW10, Q3U936, Q3UCP6, Q8BNS6

Related

ENSMUSP00000026262.7, ENSMUST00000026262.8

Conserved Domains (2) summary

cd06562
Location:167 → 510

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:24 → 145

Glycohydro_20b2; beta-acetyl hexosaminidase like