• Gene id: 3074

Gene Summary

• Gene Symbol: HEXB   Gene   UCSC   Ensembl
• Aliases: ENC-1AS, HEL-248, HEL-S-111
• Gene name: hexosaminidase subunit beta
• Alternate names: beta-hexosaminidase subunit beta, 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,
• Gene location: 5q13.3 (74640022: 74721287)     Exons: 15     NC_000005.10
• Gene summary(Entrez): 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-h
• OMIM: 606873

Protein Summary

• Protein general information: P07686  
  • Name: Beta hexosaminidase subunit beta (EC 3.2.1.52) (Beta N acetylhexosaminidase subunit beta) (Hexosaminidase subunit B) (Cervical cancer proto oncogene 7 protein) (HCC 7) (N acetyl beta glucosaminidase subunit beta) [Cleaved into: Beta hexosaminidase subunit
  • Length: 556  
  • Mass: 63,111
• Sequence:

  MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLPLSVKMTPNLLHLAPE
  NFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAFPNISSDESYT
  LLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDA
  MAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
  GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKG
  FGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWY
  LDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDA
  YDRLTRHRCRMVERGIAAQPLYAGYCNHENM

• Structural information:
  • Interpro: IPR025705  IPR015883  IPR017853  IPR029018  IPR029019  
  • PDB: 1NOU 1NOW 1NP0 1O7A 1QBD 2GJX 2GK1 3LMY 5BRO
  • PDBsum: 1NOU 1NOW 1NP0 1O7A 1QBD 2GJX 2GK1 3LMY 5BRO
  • STRING: ENSP00000261416
• Other Databases: GeneCards:  HEXB  Malacards:  HEXB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system development	IEA	biological process
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0006689	ganglioside catabolic process	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0007341	penetration of zona pellucida	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0008049	male courtship behavior	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0009313	oligosaccharide catabolic process	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0019915	lipid storage	IEA	biological process
GO:0030207	chondroitin sulfate catabolic process	TAS	biological process
GO:0030214	hyaluronan catabolic process	TAS	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0042552	myelination	IEA	biological process
GO:0042582	azurophil granule	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043615	astrocyte cell migration	IEA	biological process
GO:0044267	cellular protein metabolic process	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0048477	oogenesis	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0001501	skeletal system development	IEA	biological process
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	IEA	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	IEA	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	IEA	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006687	glycosphingolipid metabolic process	IEA	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0006689	ganglioside catabolic process	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007341	penetration of zona pellucida	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0008049	male courtship behavior	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0009313	oligosaccharide catabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0019915	lipid storage	IEA	biological process
GO:0019953	sexual reproduction	IEA	biological process
GO:0030203	glycosaminoglycan metabolic process	IEA	biological process
GO:0030207	chondroitin sulfate catabolic process	TAS	biological process
GO:0030214	hyaluronan catabolic process	TAS	biological process
GO:0031323	regulation of cellular metabolic process	IEA	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0042552	myelination	IEA	biological process
GO:0042582	azurophil granule	IDA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043615	astrocyte cell migration	IEA	biological process
GO:0044267	cellular protein metabolic process	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0048477	oogenesis	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0030207	chondroitin sulfate catabolic process	TAS	biological process
GO:0030214	hyaluronan catabolic process	TAS	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0042582	azurophil granule	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome

Diseases

Associated diseases	References
Sandhoff disease	OMIM: 606873
Tay-Sachs disease	GAD: 16352452
Tay-Sachs disease	GAD: 16352452
Azoospermia	MIK: 15820478
Defects in the degradation of ganglioside	KEGG: H00426
Azoospermia	MIK: 15820478
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15820478	Azoospermia				Male infertility	Hex A Hex B
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray