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HEXA hexosaminidase subunit alpha [ Homo sapiens (human) ]

Gene ID: 3073, updated on 13-Feb-2019

Summary

Official Symbol
HEXAprovided by HGNC
Official Full Name
hexosaminidase subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:4878
See related
Ensembl:ENSG00000213614 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]
Expression
Ubiquitous expression in placenta (RPKM 36.4), thyroid (RPKM 34.8) and 25 other tissues See more
Orthologs

Genomic context

See HEXA in Genome Data Viewer
Location:
15q23
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 TMEM202 antisense RNA 1 Neighboring gene transmembrane protein 202

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 FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CELF6

Homology

Clone Names

  • MGC99608

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyl-beta-D-galactosaminidase activity IEA
Inferred from Electronic Annotation
more info
 
acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
beta-N-acetylhexosaminidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 HDA PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_009017.2 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
    ENSP00000268097.5, ENST00000268097.9
    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
    ENSP00000455114.1, ENST00000566304.5
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

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