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0HEXA_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameHEXA
DescriptionBeta-hexosaminidase alpha chain precursor (ec 3.2.1.52) (n-acetyl- beta-glucosaminidase) (beta-n-acetylhexosaminidase) (hexosaminidase a).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GON/A
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:-121.958610534668 
Location:167-488IPR001540:Glyco_hydro_20b 
Evalue:-68.5228805541992 
Location:35-165
SequencesProtein: HEXA_HUMAN (529 aa)
mRNA: NM_000520
Local Annotation
Synapse Ontology
introduce the substructure of the synapse and the location where the molecule can be seen. It will contain all the constructive special organelle and molecule we known.
sdb:0001 Structure/Biochemistry of synapse  (Evidence:keywords)
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (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: 235 residues, 70422832-70423535Exon2: 37 residues, 70424840-70424945Exon3: 32 residues, 70425629-70425720Exon4: 63 residues, 70425921-70426105Exon5: 26 residues, 70427080-70427153Exon6: 31 residues, 70427442-70427529Exon7: 62 residues, 70428473-70428654Exon8: 46 residues, 70429912-70430045Exon9: 36 residues, 70430527-70430629Exon10: 39 residues, 70432462-70432573Exon11: 17 residues, 70433085-70433132Exon12: 24 residues, 70434953-70435019Exon13: 33 residues, 70435919-70436012Exon14: 95 residues, 70455114-70455393Exon15: 2 residues, -Jump to HEXA_HUMAN  
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Loci Cluster (Details)Loci: 4178 70422832-70455393 ~-33K 12666(HEXA)(-)Loci: 4177 70278423-70310738 ~-32K 12655(PKM2)(-)Link out to UCSC