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HEXB hexosaminidase subunit beta [ Homo sapiens (human) ]

Gene ID: 3074, updated on 3-Nov-2018

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; Vega:OTTHUMG00000102057
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

Genomic context

See HEXB in Genome Data Viewer
Location:
5q13.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (74640023..74721288)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (73935547..74017113)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1333 Neighboring gene long intergenic non-protein coding RNA 1331 Neighboring gene ectodermal-neural cortex 1 Neighboring gene RNA, U6 small nuclear 658, pseudogene Neighboring gene G elongation factor mitochondrial 2 Neighboring gene NSA2, ribosome biogenesis homolog

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 Jun 15 11:32:44 2016

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

Homology

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 TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
astrocyte cell migration IEA
Inferred from Electronic Annotation
more info
 
cellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process IEA
Inferred from Electronic Annotation
more info
 
chondroitin sulfate catabolic process TAS
Traceable Author Statement
more info
 
ganglioside catabolic process IEA
Inferred from Electronic Annotation
more info
 
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
 
lipid storage IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
lysosome organization IEA
Inferred from Electronic Annotation
more info
 
male courtship behavior IEA
Inferred from Electronic Annotation
more info
 
myelination IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
oligosaccharide catabolic process IEA
Inferred from Electronic Annotation
more info
 
oogenesis IEA
Inferred from Electronic Annotation
more info
 
penetration of zona pellucida IEA
Inferred from Electronic Annotation
more info
 
phospholipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
azurophil granule IDA
Inferred from Direct Assay
more info
PubMed 
azurophil granule lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

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_000512.1
NP_001278933.1

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_009770.2 RefSeqGene

    Range
    50122..86266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000521.3NP_000512.1  beta-hexosaminidase subunit beta isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000512.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK130002, BC017378
    Consensus CDS
    CCDS4022.1
    UniProtKB/Swiss-Prot
    P07686
    UniProtKB/TrEMBL
    A0A024RAJ6
    Related
    ENSP00000261416.7, OTTHUMP00000128232, ENST00000261416.11, OTTHUMT00000219859
    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_001292004.1NP_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/Swiss-Prot
    P07686
    UniProtKB/TrEMBL
    Q5URX0
    Related
    ENSP00000426285.1, OTTHUMP00000222053, ENST00000511181.5, OTTHUMT00000369003
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

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