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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
Gene Name
Ensembl ID
  • ENST00000379644
  • ENSP00000368965
  • ENSG00000165102

Symbol
  • TMEM76
  • RP73
  • HGNAT
  • MPS3C
  • TMEM76
Illumination Graph
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
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: 35.85   (req: < 5)
Gene RIFs: 13   (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: 35.85   (req: >= 5)
Gene RIFs: 13   (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
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body height
1
1
1
3.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body height
1
3.4
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
heparan-alpha-glucosaminide N-acetyltransferase
VGNC:6681
464155
Mouse
MGI:1196297
52120
Dog
heparan-alpha-glucosaminide N-acetyltransferase
VGNC:41678
482833
Horse
heparan-alpha-glucosaminide N-acetyltransferase
VGNC:18771
100053359
Cow
heparan-alpha-glucosaminide N-acetyltransferase
VGNC:29837
511607
Species
Name
OMA
EggNOG
Inparanoid
Chimp
heparan-alpha-glucosaminide N-acetyltransferase
Mouse
Dog
heparan-alpha-glucosaminide N-acetyltransferase
Horse
heparan-alpha-glucosaminide N-acetyltransferase
Cow
heparan-alpha-glucosaminide N-acetyltransferase
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q68CP4-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (11)
Disease (R-HSA-1643685)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 8
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Disease
Reactome
Diseases of carbohydrate metabolism
Reactome
Diseases of metabolism
Reactome
Immune System
Reactome
Innate Immune System
Name
Explore in Pharos
Explore in Source
Disease
Diseases of carbohydrate metabolism
Diseases of metabolism
Immune System
Innate Immune System
Protein-Protein Interactions (150)
1 – 10 of 150
C15orf32
Tdark
Novelty:  8.4527027
p_int:  0.999572156
p_ni:  0.000383345
p_wrong:  0.000044499
Data Source:  BioPlex
NAGLU
Tbio
Family:  Enzyme
Novelty:  0.01033079
Score:  0.99
Data Source:  STRINGDB
SGSH
Tbio
Family:  Enzyme
Novelty:  0.00670111
Score:  0.969
Data Source:  STRINGDB
ATP8B4
Tbio
Family:  Transporter
Novelty:  0.19278107
Score:  0.928
Data Source:  STRINGDB
GAA
Tclin
Family:  Enzyme
Novelty:  0.0063246
Score:  0.914
Data Source:  STRINGDB
ATP6V1D
Tbio
Family:  Enzyme
Novelty:  0.02298626
Score:  0.904
Data Source:  STRINGDB
CYBB
Tchem
Family:  IC
Novelty:  0.00054866
Score:  0.903
Data Source:  STRINGDB
ATP6AP2
Tbio
Novelty:  0.00357665
Score:  0.903
Data Source:  STRINGDB
ITGB2
Tclin
Novelty:  0.00185859
Score:  0.903
Data Source:  STRINGDB
AGPAT2
Tchem
Family:  Enzyme
Novelty:  0.01321334
Score:  0.902
Data Source:  STRINGDB
Publication Statistics
PubMed Score  35.85

PubMed score by year
PubTator Score  25.86

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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