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    HEXB hexosaminidase subunit beta [ Homo sapiens (human) ]

    Gene ID: 3074, updated on 7-Jan-2024

    Summary

    Official Symbol
    HEXBprovided by HGNC
    Official Full Name
    hexosaminidase subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:4879
    See related
    Ensembl:ENSG00000049860 MIM:606873; AllianceGenome:HGNC:4879
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ENC-1AS; HEL-248; HEL-S-111
    Summary
    Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
    Expression
    Ubiquitous expression in placenta (RPKM 128.3), colon (RPKM 50.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See HEXB in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (74640023..74721288)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75120988..75202190)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (73935848..74017113)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22667 Neighboring gene NANOG hESC enhancer GRCh37_chr5:73811827-73812386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73838511-73839072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22669 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1766 Neighboring gene Sharpr-MPRA regulatory region 12094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:73906972-73907472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:73907473-73907973 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:73920707-73921208 Neighboring gene uncharacterized LOC124901005 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:73921209-73921708 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:73926734-73927547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73936823-73937538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73937539-73938252 Neighboring gene Sharpr-MPRA regulatory region 10699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22671 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:73973961-73974139 Neighboring gene ectodermal-neural cortex 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:73980770-73981270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74001994-74002494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74002495-74002995 Neighboring gene RNA, U6 small nuclear 658, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22675 Neighboring gene GTP dependent ribosome recycling factor mitochondrial 2 Neighboring gene RNA, U6 small nuclear 1330, pseudogene Neighboring gene family with sequence similarity 169 member A Neighboring gene NSA2 ribosome biogenesis factor

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef ultimately increases the secretion of hexosaminidases due to impairment of GCC2-Rab9 mediated IGF2R (CI-MPR) containing transport vesicles to trans Golgi network from late endosomes PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetyl-beta-D-galactosaminidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in astrocyte cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondroitin sulfate catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dermatan sulfate catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ganglioside catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ganglioside catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycosaminoglycan metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycosaminoglycan metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hyaluronan catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid storage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of location in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male courtship behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligosaccharide catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in penetration of zona pellucida IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in single fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in azurophil granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    part_of beta-N-acetylhexosaminidase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of beta-N-acetylhexosaminidase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cortical granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in lysosomal lumen NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    beta-hexosaminidase subunit beta
    Names
    HCC-7
    N-acetyl-beta-glucosaminidase subunit beta
    beta-N-acetylhexosaminidase subunit beta
    beta-hexosaminidase beta-subunit
    cervical cancer proto-oncogene 7 protein
    epididymis luminal protein 248
    epididymis secretory protein Li 111
    epididymis secretory sperm binding protein
    hexosaminidase B (beta polypeptide)
    hexosaminidase subunit B
    NP_000512.2
    NP_001278933.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009770.3 RefSeqGene

      Range
      50212..86267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000521.4NP_000512.2  beta-hexosaminidase subunit beta isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC026405, AC093214
      Consensus CDS
      CCDS4022.1
      UniProtKB/Swiss-Prot
      P07686
      UniProtKB/TrEMBL
      A0A024RAJ6
      Related
      ENSP00000261416.7, ENST00000261416.12
      Conserved Domains (2) summary
      cd06562
      Location:200540
      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:56178
      Glycohydro_20b2; beta-acetyl hexosaminidase like
    2. NM_001292004.2NP_001278933.1  beta-hexosaminidase subunit beta isoform 2

      See identical proteins and their annotated locations for NP_001278933.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, which causes translation initiation at a downstream AUG start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AY643499, BC017378
      Consensus CDS
      CCDS78021.1
      UniProtKB/TrEMBL
      Q5URX0
      Related
      ENSP00000426285.1, ENST00000511181.5
      Conserved Domains (1) summary
      cd06562
      Location:1315
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      74640023..74721288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      75120988..75202190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)