Version 5.4
Homo sapiens Gene: HGSNAT
Summary
InnateDB Gene IDBG-20708.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HGSNAT
Gene Name heparan-alpha-glucosaminide N-acetyltransferase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000165102
Encoded Proteins
IDBP-20714
heparan-alpha-glucosaminide N-acetyltransferase
IDBP-477661
heparan-alpha-glucosaminide N-acetyltransferase
IDBP-478509
heparan-alpha-glucosaminide N-acetyltransferase
IDBP-473531
heparan-alpha-glucosaminide N-acetyltransferase
IDBP-483326
heparan-alpha-glucosaminide N-acetyltransferase
IDBP-481951
heparan-alpha-glucosaminide N-acetyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:43140455-43202855
Strand Forward strand
Band p11.21
Transcripts
ENST00000379644 ENSP00000368965
ENST00000517319 ENSP00000430032
ENST00000520704 ENSP00000429109
ENST00000522082 ENSP00000430151
ENST00000524016 ENSP00000428322
ENST00000521576 ENSP00000429029
ENST00000519000
ENST00000520678
ENST00000523989
ENST00000519705
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
Cellular Component
GO:0005765 lysosomal membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000037260
View Gene Order
ENSBTAG00000033182
Not yet available
Pathways
NETPATH
REACTOME
REACT_120752
HS-GAG degradation pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_121314
Heparan sulfate/heparin (HS-GAG) metabolism pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa00531
Glycosaminoglycan degradation pathway
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt Q68CP4
TrEMBL E5RGH7 E5RH11 E5RJC4 E5RJN0 E7ET79
UniProt Splice Variant
Entrez Gene 138050
UniGene Hs.600384 Hs.708442
RefSeq NM_152419
HUGO HGNC:26527
OMIM 610453
CCDS CCDS47852
HPRD
IMGT
EMBL AC113191 AK304441 CR749838
GenPept BAG65262 CAH18694
RNA Seq Atlas 138050

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca