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HEXB hexosaminidase subunit beta [ Homo sapiens (human) ]

Gene ID: 3074, updated on 4-Jan-2025

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
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Genomic context

See HEXB in Genome Data Viewer
Location:
5q13.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (74640023..74721288)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75120988..75202190)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 27
Process Evidence Code Pubs
involved_in N-glycan processing  
involved_in astrocyte cell migration  
involved_in chondroitin sulfate catabolic process  
involved_in dermatan sulfate catabolic process  
involved_in ganglioside catabolic process  
involved_in ganglioside catabolic process PubMed 
involved_in glycosaminoglycan metabolic process  
involved_in glycosaminoglycan metabolic process PubMed 
involved_in hyaluronan catabolic process  
involved_in intracellular calcium ion homeostasis  
involved_in lipid storage  
involved_in locomotory behavior  
involved_in lysosome organization  
involved_in maintenance of location in cell  
involved_in male courtship behavior  
involved_in myelination  
involved_in neuromuscular process controlling balance  
involved_in neuron cellular homeostasis  
involved_in oligosaccharide catabolic process  
involved_in oogenesis  
involved_in penetration of zona pellucida  
involved_in phospholipid biosynthetic process  
involved_in positive regulation of transcription by RNA polymerase II  
involved_in regulation of cell shape  
involved_in sensory perception of sound  
involved_in single fertilization  
involved_in skeletal system development  
Items 1 - 25 of 27
Component Evidence Code Pubs
located_in acrosomal vesicle  
located_in azurophil granule PubMed 
located_in azurophil granule lumen  
part_of beta-N-acetylhexosaminidase complex PubMed 
part_of beta-N-acetylhexosaminidase complex  
located_in cortical granule  
located_in extracellular exosome PubMed 
located_in extracellular region  
located_in lysosomal lumen PubMed 
located_in lysosomal lumen  
is_active_in lysosome  
located_in membrane PubMed 
is_active_in membrane  

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)

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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.

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_2024_08

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)
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