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HEXA hexosaminidase subunit alpha [ Homo sapiens (human) ]

Gene ID: 3073, updated on 8-May-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
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
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (72343437..72376179, 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

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
    UniProtKB/Swiss-Prot
    P06865
    UniProtKB/TrEMBL
    B4DVA7, H3BP20
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    72343437..72376179 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    72753786..72786527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)