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Protein Page:
HGSNAT (human)

Overview
HGSNAT Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C); also known as Sanfilippo C syndrome. MPS3C is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. 2 isoforms of the human protein are produced by alternative initiation. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Glycan Metabolism - glycosaminoglycan degradation; Membrane protein, multi-pass; EC 2.3.1.78; Acetyltransferase
Cellular Component: lysosomal membrane; integral to membrane
Molecular Function: heparan-alpha-glucosaminide N-acetyltransferase activity; transferase activity, transferring acyl groups
Biological Process: glycosaminoglycan catabolic process; lysosomal transport; glycosaminoglycan metabolic process; carbohydrate metabolic process; protein oligomerization
Reference #:  Q68CP4 (UniProtKB)
Alt. Names/Synonyms: DKFZp686G24175; FLJ22242; FLJ32731; Heparan-alpha-glucosaminide N-acetyltransferase; HGNAT; HGSNAT; MPS3C; TMEM76; Transmembrane protein 76
Gene Symbols: HGSNAT
Molecular weight: 73,293 Da
Basal Isoelectric point: 8.69  Predict pI for various phosphorylation states
Select Structure to View Below

HGSNAT

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 3 S239-p ETDRLINsELGsPsR
0 8 S243-p LINsELGsPsRTDPL
0 2 S245-p NsELGsPsRTDPLDG
  HGSNAT iso2  
- gap
- gap
- gap
  mouse

 
S234-p ETDRLINsELGsPsR
S238-p LINsELGsPsRADPL
S240-p NsELGsPsRADPLSA
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