InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HGSNAT

Summary

InnateDB Protein

IDBP-20714.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HGSNAT

Protein Name

heparan-alpha-glucosaminide N-acetyltransferase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000368965

InnateDB Gene

IDBG-20708 (HGSNAT)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:16960811, ECO:0000269PubMed:17033958, ECO:0000269PubMed:19823584, ECO:0000269PubMed:20650889}.

Subcellular Localization

Lysosome membrane {ECO:0000269PubMed:16960811, ECO:0000269PubMed:17033958, ECO:0000269PubMed:17897319}; Multi-pass membrane protein {ECO:0000269PubMed:16960811, ECO:0000269PubMed:17033958, ECO:0000269PubMed:17897319}. Note=Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain.

Disease Associations

Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]: 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. {ECO:0000269PubMed:16960811, ECO:0000269PubMed:17033958, ECO:0000269PubMed:17397050, ECO:0000269PubMed:18024218, ECO:0000269PubMed:19479962}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver. {ECO:0000269PubMed:16960811, ECO:0000269PubMed:17033958}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0015019	heparan-alpha-glucosaminide N-acetyltransferase activity
GO:0016746	transferase activity, transferring acyl groups

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006027	glycosaminoglycan catabolic process
GO:0007041	lysosomal transport
GO:0030203	glycosaminoglycan metabolic process
GO:0044281	small molecule metabolic process
GO:0051259	protein oligomerization