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FLASH GENE
Symbol HEXB contributors: mct/npt - updated : 10-02-2009
HGNC name hexosaminidase B (beta polypeptide)
HGNC id 4879
Corresponding disease
HEXB Sandhoff disease
Location 5q13.3      Physical location : 73.980.968 - 74.017.111
Synonym name
  • ectodermal-neural cortex (with BTB-like domain), antisens transcript
  • cervical cancer proto-oncogene 7 protein
  • N-acetyl-beta- glucosaminidase
    • Synonym symbol(s) ENC1AS , ENC-1AS, HCC-7
    EC.number 3.2.1.52
    DNA
    TYPE functioning gene
    SPECIAL FEATURE opposite orientation
    text opposite orientation with ENC1
    STRUCTURE 36.10 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif
    MAPPING cloned Y linked Y status confirmed
    Map see ENC1
    Physical map
    FLJ12598 5q13.2 hypothetical protein FLJ12598 LOC391795 5 similar to ribosomal protein L10a ZNF366 5q13.1 zinc finger protein 366 LOC389300 5 LOC389300 KPNB2 5p14.2-q22.3 karyopherin (importin) beta 2 LOC115548 5q13.2 hypothetical protein BC014311 LOC134285 5q13.3 hypothetical protein LOC134285 MGC13034 5q13.3 hypothetical protein MGC13034 LOC389301 5 similar to nonhistone chromosomal protein HMG-17 - rat LOC389302 5 LOC389302 FOXD1 5q12-q13 forkhead box D1 BTF3 5p13.2 basic transcription factor 3 LOC220793 5q13.3 similar to hepatitis C virus core-binding protein 6; cervical cancer oncogene 3 ANKRA2 5q12-q13 ankyrin repeat, family A (RFXANK-like), 2 FLJ12787 5q13.3 hypothetical protein FLJ12787 PRO1942 5q13.3 hypothetical protein PRO1942 RGNEF 5q13.3 Rho-guanine nucleotide exchange factor ENC1 5q12-q13.3 ectodermal-neural cortex (with BTB-like domain) HEXB 5q12 hexosaminidase B (beta polypeptide) EFG2 5q13 hexosaminidase B (beta polypeptide) TINP1 5q13.3 TGF beta-inducible nuclear protein 1 KIAA0888 5q13.3 KIAA0888 protein LOC260421 5q13 actin related protein 2/3 complex subunit 1A pseudogene LOC389303 5 hypothetical gene supported by BC039003 LOC391796 5 similar to hypothetical protein FLJ10891 C2GNT3 5q12 similar to hypothetical protein FLJ10891 FLJ40191 5q13.3 hypothetical protein FLJ40191 HMGCR 5q13.3-q14 3-hydroxy-3-methylglutaryl-Coenzyme A reductase COL4A3BP 5q13.1 collagen, type IV, alpha 3 (Goodpasture antigen) binding protein POLK 5q13 polymerase (DNA directed) kappa LOC391797 5 similar to hypothetical protein LOC348094 FLJ35779 5q13.3 hypothetical protein FLJ35779 LOC389304 5 hypothetical gene supported by AK125735 LOC391798 5 similar to importin alpha 1b LOC134356 5q13.3 similar to breast cancer associated protein BRAP1; bridging integrator-2 LOC134357 5q13.3 similar to mitochondrial aconitase LOC391799 5 similar to spermine synthase; spermidine aminopropyltransferase SV2C 5q13.3-q14.1 similar to spermine synthase; spermidine aminopropyltransferase LOC391800 5 similar to U1 snRNP-specific protein C IQGAP2 5q13.3 IQ motif containing GTPase activating protein 2 F2RL2 5q13 coagulation factor II (thrombin) receptor-like 2 F2R 5q13 coagulation factor II (thrombin) receptor F2RL1 5q13 coagulation factor II (thrombin) receptor-like 1 S100Z 5q14.1 S100Z protein CRHBP 5q11.2-q13.3 corticotropin releasing hormone binding protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 1919 - 556 - Hammarsund, Magini (2008)
    - splicing 611 - - various tumor Hammarsund
    containing an alternative 5' exon
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Nervousbrain    
    Reproductivefemale systemplacenta  predominantly
     male systemprostate  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • glycosyl hydrolase 20 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    text in the cytosol and PM (plasma membrane) (Magini (2008)
    basic FUNCTION
  • hydrolyzing glycoproteins, glucosaminoglycans, glycolipids
  • soluble glycohydrolase involved in glycoconjugate degradation in lysosomes (Magini 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • can utilize GM2 ganglioside as a substrate, but requires GM2A to bind GM2 ganglioside and then interact with the enzyme, placing the terminal GalNAc residue in the active site of the alpha-subunit (
    • cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) HEXB
    related resource HEXB Locus Database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS