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    HEXA hexosaminidase subunit alpha [ Homo sapiens (human) ]

    Gene ID: 3073, updated on 8-Sep-2016
    Official Symbol
    HEXAprovided by HGNC
    Official Full Name
    hexosaminidase subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:4878
    See related
    Ensembl:ENSG00000213614 HPRD:06040; MIM:606869; Vega:OTTHUMG00000133445
    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
    TSD
    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. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
    Orthologs
    Location:
    15q24.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (72343435..72376473, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72635778..72669474, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370887 Neighboring gene CUGBP, Elav-like family member 6 Neighboring gene HEXA antisense RNA 1 Neighboring gene ribosomal protein L12 pseudogene 35 Neighboring gene uncharacterized LOC105370888 Neighboring gene transmembrane protein 202

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: CELF6

    Homology

    Clone Names

    • MGC99608

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-N-acetylhexosaminidase activity TAS
    Traceable Author Statement
    more info
     
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    chondroitin sulfate catabolic process TAS
    Traceable Author Statement
    more info
     
    glycosaminoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycosphingolipid metabolic process TAS
    Traceable Author Statement
    more info
     
    hyaluronan catabolic process TAS
    Traceable Author Statement
    more info
     
    keratan sulfate catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    azurophil granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    beta-hexosaminidase subunit alpha
    Names
    N-acetyl-beta-glucosaminidase subunit alpha
    beta-N-acetylhexosaminidase subunit alpha
    hexosaminidase A (alpha polypeptide)
    hexosaminidase subunit A
    NP_000511.2
    NP_001305754.1

    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_009017.1 RefSeqGene

      Range
      4707..37745
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000520.5NP_000511.2  beta-hexosaminidase subunit alpha isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_000511.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC009690, BC018927, BM668409, CR627386, DC356933
      Consensus CDS
      CCDS10243.1
      UniProtKB/Swiss-Prot
      P06865
      UniProtKB/TrEMBL
      A0A0S2Z3W3
      Related
      ENSP00000268097, OTTHUMP00000164647, ENST00000268097, OTTHUMT00000257317
      Conserved Domains (2) summary
      cd06562
      Location:167511
      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:23145
      Glycohydro_20b2; beta-acetyl hexosaminidase like
    2. NM_001318825.1NP_001305754.1  beta-hexosaminidase subunit alpha isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). The encoded isoform (1) may undergo proteolytic processing similar to isoform 2.
      Source sequence(s)
      AC009690, AK301000, BM668409, CR627386, DC356933, M13520
      Consensus CDS
      CCDS81905.1
      UniProtKB/Swiss-Prot
      P06865
      UniProtKB/TrEMBL
      B4DVA7, H3BP20
      Related
      ENSP00000455114, OTTHUMP00000249202, ENST00000566304, OTTHUMT00000420190
      Conserved Domains (2) summary
      cd06562
      Location:178522
      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:23156
      Glycohydro_20b2; beta-acetyl hexosaminidase like

    RNA

    1. NR_134869.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate internal splice site compared to variant 1 and its 3' terminal exon extends past a splice site that is used in variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC009690, AK296528, AW088671, BC018927, CR627386, DC356933

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      72343435..72376473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      72753784..72786821 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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