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0HEXB_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameHEXB
DescriptionBeta-hexosaminidase beta chain precursor (ec 3.2.1.52) (n-acetyl-beta- glucosaminidase) (beta-n-acetylhexosaminidase) (hexosaminidase b) (cervical cancer proto-oncogene 7) (hcc-7) .
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0004563 beta-N-acetylhexosaminidase activity (TAS)
Domain Architecture (Details)
InterPro domains unassigned to SynO:
O-Glycosyl hydrolases (EC 3.2.1.-) are a widespread group of enzymes that hydrolyse the glycosidic bond between two or more carbohydrates.r between a carbohydrate and a non-carbohydrate moiety. A classification system for glycosylhydrolases.ased on sequence similarity.as led to the definition of 85 different families . This classification is available on the CAZy (CArbohydrate-Active EnZymes) web site . Because the fold of proteins is better conserved than their sequences.ome of the families can be grouped in clans.Glycoside hydrolase family 20 comprises enzymes with several known activities; beta-hexosaminidase (); lacto-N-biosidase (). Carbonyl oxygen of the C-2 acetamido group of the substrate acts as the catalytic nucleophile/base in this family of enzymes.In the brain and other tissues.eta-hexosaminidase A degrades GM2 gangliosides; specifically.he enzyme hydrolyses terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer.ith one alpha.ne beta-A and one beta-B chain; hexosaminidase B is a tetramer of two beta-A and two beta-B chains; and hexosaminidase S is a homodimer of alpha chains. The two beta chains are derived from the cleavage of a precursor. Mutations in the beta-chain lead to Sandhoff disease. lysosomal storage disorder characterised by accumulation of GM2 ganglioside .
  IPR001540:Glycoside hydrolase, family 20
O-Glycosyl hydrolases (EC 3.2.1.-) are a widespread group of enzymes that hydrolyse the glycosidic bond between two or more carbohydrates.r between a carbohydrate and a non-carbohydrate moiety. A classification system for glycosylhydrolases.ased on sequence similarity.as led to the definition of 85 different families . This classification is available on the CAZy (CArbohydrate-Active EnZymes) web site . Because the fold of proteins is better conserved than their sequences.ome of the families can be grouped in clans.This entry represents the catalytic TIM beta/alpha barrel common to many different families of glycosyl hydrolases. Structures have been determined for several proteins containing this domain.ncluding family 13 glycosyl hydrolases (such as alpha-amylase) .eta-glycanases .amily 1 glycosyl hydrolases (such as beta-glucosidase) .ype II chitinases ..-beta-N-acetylmuraminidases .nd beta-N-acetylhexosaminidases .More information about this protein can be found at Protein of the Month: alpha-Amylase .
  IPR013781:Glycoside hydrolase, catalytic core
IPR001540:Glyco_hydro_20 
Evalue:-129.397933959961 
Location:200-517IPR001540:Glyco_hydro_20b 
Evalue:-77.1674880981445 
Location:68-198
SequencesProtein: HEXB_HUMAN (556 aa)
mRNA: NM_000521
Local Annotation
Synapse Ontology
Typical ecretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of nonpeptide neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
sdb:0094 typical synaptic vesicle  (Evidence:keywords)
KO assignmentK01207
  Level 3 annotation:
    beta-N-acetylhexosaminidase
  Level 2 annotation:
    Aminosugars metabolism
    N-Glycan degradation
    Glycosaminoglycan degradation
    Globoside metabolism
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 125 residues, 74016766-74017140Exon2: 50 residues, 74020908-74021054Exon3: 24 residues, 74025219-74025285Exon4: 17 residues, 74028273-74028320Exon5: 39 residues, 74028576-74028687Exon6: 36 residues, 74036799-74036901Exon7: 45 residues, 74045086-74045216Exon8: 62 residues, 74047090-74047271Exon9: 31 residues, 74048167-74048254Exon10: 26 residues, 74049871-74049944Exon11: 60 residues, 74050377-74050552Exon12: 32 residues, 74052008-74052099Exon13: 37 residues, 74052223-74052328Exon14: 58 residues, 74052698-74052867Exon15: 2 residues, -Jump to HEXB_HUMAN  
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Loci Cluster (Details)Loci: 3466 74016766-74052867 ~-36K 29006(HEXB)(+)Loci: 4718 73958990-73972273 ~-13K 29005(ENC1)(-)Link out to UCSC