Tbio HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase

Protein Summary

Description

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. This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]

Uniprot Accession IDs

• Q68CP4
• B4E2V0

Gene Name

• HGSNAT

Ensembl ID

• ENST00000379644
• ENSP00000368965
• ENSG00000165102

Symbol

• TMEM76
• RP73
• HGNAT
• MPS3C
• TMEM76

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	0.96
disease perturbation	0.74
kinase perturbation	0.71
histone modification site profile	0.67
cellular component	0.62

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 43.71   (req: < 5)

Gene RIFs: 17   (req: <= 3)

Antibodies: 41   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 43.71   (req: >= 5)

Gene RIFs: 17   (req: > 3)

Antibodies: 41   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0