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

    Gene ID: 323613, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: 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

    General gene information

    Markers

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    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
    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
     
    Component Evidence Code Pubs
    located_in cortical granule IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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_001114845.2NP_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
      A0A8M3AZK9, A0A8N7UYS4, A2BHD8
      Related
      ENSDARP00000050270.7, ENSDART00000050271.9
      Conserved Domains (2) summary
      cd06562
      Location:182523
      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:37160
      Glycohydro_20b2; beta-acetyl hexosaminidase like
    2. NM_001309863.1NP_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, A0A8M3AZK9, F1QUU0
      Related
      ENSDARP00000088748.3, ENSDART00000097975.4
      Conserved Domains (2) summary
      pfam14845
      Location:37160
      Glycohydro_20b2; beta-acetyl hexosaminidase like
      cl02948
      Location:182456
      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_005171791.5XP_005171848.1  beta-hexosaminidase subunit beta isoform X1

      UniProtKB/TrEMBL
      A0A8M2BJ34, A0A8M3B2G3
      Conserved Domains (2) summary
      cd06562
      Location:182524
      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:37160
      Glycohydro_20b2; beta-acetyl hexosaminidase like