Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HGSNAT contributors: mct - updated : 01-12-2015
HGNC name heparan-alpha-glucosaminide N-acetyltransferase
HGNC id 26527
DNA
TYPE functioning gene
STRUCTURE 62.40 kb     18 Exon(s)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 5228 70.4 635 - 2006 16960811
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   highly
Reproductivefemale systemplacenta  highly
Respiratorylung   highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 30 aa, cleavable, N-terminal signal peptide, extending to transmembrane domain (TMD) B
  • eleven transmembrane domains (A-K)
  • tyrosine- and dileucine-based lysosomal targeting signals in its C-terminal cytoplasmic domain with a contribution from a dileucine-based signal in the N-terminal cytoplasmic loop
  • conjugated GlycoP
    isoforms Precursor N-acetyltransferase signal peptide is co-translationally cleaved and this event is required for its intracellular transport to the lysosome
    HOMOLOGY
    interspecies homolog to murine Hgsnat (82.5 pc)
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    text
  • multi-pass membrane protein
  • basic FUNCTION
  • acetylating the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase
  • catalyzes the transmembrane acetylation of heparan sulfate in lysosomes required for its further catabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    glycosaminoglycan metabolic process
    a component
  • in the lysosome, the precursor is cleaved into a 29-kDa N-terminal alpha-chain and a 48-kDa C-terminal beta-chain, and assembled into active &
  • 8764;440-kDa oligomers
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other intralysosomal oligomerization and proteolytic cleavage are two steps crucial for functional activation of HGSNAT
    ASSOCIATED DISORDERS
    corresponding disease(s) MPS3C , RP73
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS