Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
PhosphoSitePlus
HomeAbout PhosphoSiteUsing PhosphoSiteCuration ProcessContact
NIH-logos NIGMS Logo NIAAA Logo NCI Logo NIH Logo
Protein Page:
HGSNAT (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

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: EC 2.3.1.78; Membrane protein, integral; Acetyltransferase; Glycan Metabolism - glycosaminoglycan degradation; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 8p11.1
Cellular Component: lysosomal membrane; integral to membrane
Molecular Function: heparan-alpha-glucosaminide N-acetyltransferase activity; transferase activity, transferring acyl groups
Biological Process: lysosomal transport; glycosaminoglycan catabolic process; 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.


STRING  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  DISEASE  |  Scansite  |  Pfam  |  ENZYME  |  Phospho.ELM  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  InnateDB


Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

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 1 S44-p AALLLAAsVLSAALL
0 1 K71-ub APPRDLDkKRHAELK
0 4 S239-p ETDRLINsELGsPsR
0 11 S243-p LINsELGsPsRtDPL
0 3 S245-p NsELGsPsRtDPLDG
0 1 T247-p ELGsPsRtDPLDGDV
0 1 D251 PsRtDPLDGDVQPAT
0 1 T638-p QSHKEHLtQNIVATA
  HGSNAT iso2  
- gap
- gap
- gap
- gap
- gap
- gap
- gap
T342 QSHKEHLTQNIVATA
  mouse

 
S47 AALLLAGSVLSATLL
E66 RAEPDLDEKRNVELK
S234-p ETDRLINsELGsPsR
S238-p LINsELGsPsRADPL
S240-p NsELGsPsRADPLsA
A242 ELGsPsRADPLsADY
S246-p PsRADPLsADYQPET
I631 QSHKEHLIQNIVATA
Home  |  Curator Login With enhanced literature mining using Linguamatics I2E I2E Logo Produced by 3rd Millennium  |  Design by Digizyme
©2003-2013 Cell Signaling Technology, Inc.