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HGSNAT heparan-alpha-glucosaminide N-acetyltransferase [ Homo sapiens (human) ]

Gene ID: 138050, updated on 11-Sep-2014
Official Symbol
HGSNATprovided by HGNC
Official Full Name
heparan-alpha-glucosaminide N-acetyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:26527
See related
Ensembl:ENSG00000165102; MIM:610453; Vega:OTTHUMG00000164102
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HGNAT; MPS3C; TMEM76
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]
See HGSNAT in Epigenomics, MapViewer
Location:
8p11.1
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (43140449..43202827)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42995592..43057970)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene farnesyltransferase, CAAX box, alpha Neighboring gene protein-O-mannose kinase Neighboring gene RNA, Ro-associated Y5 pseudogene 6 Neighboring gene vomeronasal 1 receptor 45 pseudogene Neighboring gene vomeronasal 1 receptor 46 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Markers

Homology

Clone Names

  • FLJ22242, FLJ32731, DKFZp686G24175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparan-alpha-glucosaminide N-acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
transferase activity, transferring acyl groups IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
lysosomal transport IDA
Inferred from Direct Assay
more info
 
protein oligomerization IDA
Inferred from Direct Assay
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
Preferred Names
heparan-alpha-glucosaminide N-acetyltransferase
Names
heparan-alpha-glucosaminide N-acetyltransferase
transmembrane protein 76
NP_689632.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009552.1 

    Range
    5001..67379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152419.2NP_689632.2  heparan-alpha-glucosaminide N-acetyltransferase precursor

    See proteins identical to NP_689632.2

    Status: REVIEWED

    Source sequence(s)
    AC113191, BC042037, BC056149, BE327420, DA395558, DB128369
    Consensus CDS
    CCDS47852.1
    UniProtKB/Swiss-Prot
    Q68CP4
    UniProtKB/TrEMBL
    Q8IVU6
    Related
    ENSP00000368965, OTTHUMP00000225906, ENST00000379644, OTTHUMT00000377293
    Conserved Domains (1) summary
    COG4299
    Location:239635
    COG4299; Uncharacterized protein conserved in bacteria [Function unknown]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    43140449..43202827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273409.1XP_005273466.1  

    Conserved Domains (1) summary
    COG4299
    Location:239672
    COG4299; Uncharacterized protein conserved in bacteria [Function unknown]
  2. XM_005273410.1XP_005273467.1  

    Conserved Domains (1) summary
    COG4299
    Location:239664
    COG4299; Uncharacterized protein conserved in bacteria [Function unknown]
  3. XM_005273411.1XP_005273468.1  

    Conserved Domains (1) summary
    COG4299
    Location:264608
    COG4299; Uncharacterized protein conserved in bacteria [Function unknown]
  4. XM_005273412.1XP_005273469.1  

    Conserved Domains (1) summary
    COG4299
    Location:239486
    COG4299; Uncharacterized protein conserved in bacteria [Function unknown]

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    41518326..41580566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    43042515..43105151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)