HEXB hexosaminidase subunit beta [Felis catus (domestic cat)] - Gene

Summary

Official Symbol: HEXB
Official Full Name: hexosaminidase subunit beta
Primary source: VGNC:VGNC:102224
See related: EnsemblRapid:ENSFCTG00005024405
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Felis catus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
Orthologs: human mouse all
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Genomic context

Location:: chromosome: A1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
105	current	F.catus_Fca126_mat1.0 (GCF_018350175.1)	A1	NC_058368.1 (139009018..139055740)
104	previous assembly	Felis_catus_9.0 (GCF_000181335.3)	A1	NC_018723.3 (141506098..141571963)

Chromosome A1 - NC_058368.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sandhoff disease model cats were treated with intracranial delivery of adeno-associated viral (AAV) vectors expressing feline Hex, with a study endpoint 16weeks post treatment. AAV-mediated gene delivery repressed the expansion and activation of microglia and normalized MHC-II and MIP-1alpha levels: neuroinflammation is abrogated after AAV-mediated restoration of enzymatic activity. [Hex]
Title: AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease.
In the cerebral cortex of affected cats, hexosaminidase beta-subunit mRNA levels were approximately 1.5 times higher than normal (P<0.001), while beta-subunit protein levels were substantially reduced on Western blots.
Title: Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency.
nonsense mutation linked to Sandhoff disease in family of Japanese cats
Title: Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.

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General gene information

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Markers

HEXB (e-PCR)
- UniSTS:265893

HEXBsts1 (e-PCR)
- UniSTS:258490

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables beta-N-acetylhexosaminidase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in ganglioside catabolic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in glycosaminoglycan metabolic process	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation 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 beta subunit; beta-N-acetylhexosaminidase subunit beta; beta-hexosaminidase beta subunit; hexosaminidase subunit B

NP_001009333.2

EC 3.2.1.52

XP_044894580.1

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_001009333.2 → NP_001009333.2 beta-hexosaminidase subunit beta

See identical proteins and their annotated locations for NP_001009333.2

Status: PROVISIONAL

Source sequence(s)

S70340

UniProtKB/TrEMBL

O18795

Related

ENSFCTP00005049704.1, ENSFCTT00005069572.1

Conserved Domains (2) summary

cd06562
Location:142 → 482

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:2 → 120

Glycohydro_20b2; beta-acetyl hexosaminidase like

RefSeqs of Annotated Genomes: Felis catus Annotation Release 105 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference F.catus_Fca126_mat1.0 Primary Assembly

Genomic

NC_058368.1 Reference F.catus_Fca126_mat1.0 Primary Assembly

Range

139009018..139055740

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_045038645.1 → XP_044894580.1 beta-hexosaminidase subunit beta isoform X1

Conserved Domains (2) summary

cd06562
Location:345 → 685

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:201 → 323

Glycohydro_20b2; beta-acetyl hexosaminidase like