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hexb hexosaminidase B (beta polypeptide) [ Danio rerio (zebrafish) ]

Gene ID: 323613, updated on 28-Oct-2024

Summary

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Official Symbol
hexbprovided by ZNC
Official Full Name
hexosaminidase B (beta polypeptide)provided by ZNC
Primary source
ZFIN:ZDB-GENE-030131-2333
See related
Ensembl:ENSDARG00000034368 AllianceGenome:ZFIN:ZDB-GENE-030131-2333
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
hexa; fc04h11; wu:fc04h11; wu:fv09f06; si:dkey-35i22.2
Summary
Enables hexosaminidase activity. Acts upstream of or within angiogenesis. Predicted to be located in cortical granule. Predicted to be active in lysosome and membrane. Used to study lysosomal storage 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, Oct 2024]
Orthologs
human mouse all
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Genomic context

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See hexb in Genome Data Viewer
Location:
chromosome: 5
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 5 NC_007116.7 (34600714..34616625, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 5 NC_007116.6 (34000216..34016487, complement)

Chromosome 5 - NC_007116.7Genomic Context describing neighboring genes Neighboring gene allograft inflammatory factor 1-like Neighboring gene GTP dependent ribosome recycling factor mitochondrial 2 Neighboring gene ectodermal-neural cortex 1 Neighboring gene uncharacterized LOC137495608

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development. Kuil LE, et al. Glia, 2019 Sep. PMID 31140649, Free PMC Article
  2. The microbiota promotes social behavior by modulating microglial remodeling of forebrain neurons. Bruckner JJ, et al. PLoS Biol, 2022 Nov. PMID 36318534, Free PMC Article
  3. Gene expression profiling reveals a conserved microglia signature in larval zebrafish. Mazzolini J, et al. Glia, 2020 Feb. PMID 31508850, Free PMC Article
  4. Trehalose Treatment in Zebrafish Model of Lafora Disease. Della Vecchia S, et al. Int J Mol Sci, 2022 Jun 20. PMID 35743315, Free PMC Article
  5. In situ and transcriptomic identification of microglia in synapse-rich regions of the developing zebrafish brain. Silva NJ, et al. Nat Commun, 2021 Oct 8. PMID 34625548, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables beta-N-acetylhexosaminidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables beta-N-acetylhexosaminidase activity IEA
Inferred from Electronic Annotation
more info
  
enables hexosaminidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
  
Process Evidence Code Pubs
involved_in N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in ganglioside catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycosaminoglycan metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cortical granule IEA
Inferred from Electronic Annotation
more info
  
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
beta-hexosaminidase subunit beta
NP_001108317.1
NP_001296792.1
XP_005171848.1

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)

  1. NM_001114845.2 → NP_001108317.1  beta-hexosaminidase subunit beta isoform 1 precursor

    See identical proteins and their annotated locations for NP_001108317.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    FP016255
    UniProtKB/TrEMBL
    A0A8N7UYS4, A2BHD8
    Related
    ENSDARP00000050270.7, ENSDART00000050271.9
    Conserved Domains (2) summary
    cd06562
    Location:182 → 523
    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:37 → 160
    Glycohydro_20b2; beta-acetyl hexosaminidase like

  2. NM_001309863.1 → NP_001296792.1  beta-hexosaminidase subunit beta isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    FP016255
    UniProtKB/TrEMBL
    A0A8M1P2A4, F1QUU0
    Related
    ENSDARP00000088748.3, ENSDART00000097975.4
    Conserved Domains (2) summary
    pfam14845
    Location:37 → 160
    Glycohydro_20b2; beta-acetyl hexosaminidase like
    cl02948
    Location:182 → 456
    GH20_hexosaminidase; Beta-N-acetylhexosaminidases of glycosyl hydrolase family 20 (GH20) 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. ...

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007116.7 Reference GRCz11 Primary Assembly

    Range
    34600714..34616625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005171791.5 → XP_005171848.1  beta-hexosaminidase subunit beta isoform X1

    UniProtKB/TrEMBL
    A0A8M2BJ34
    Conserved Domains (2) summary
    cd06562
    Location:182 → 524
    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:37 → 160
    Glycohydro_20b2; beta-acetyl hexosaminidase like
Nucleotide Protein Strain
Heading Accession and Version

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