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

Gene ID: 138050, updated on 23-May-2018

Summary

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
RP73; 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]
Expression
Ubiquitous expression in skin (RPKM 11.5), gall bladder (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See HGSNAT in Genome Data Viewer
Location:
8p11.21-p11.1
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 RNA, U1 small nuclear 124, pseudogene Neighboring gene protein-O-mannose kinase Neighboring gene RNY5 pseudogene 6 Neighboring gene vomeronasal 1 receptor 45 pseudogene Neighboring gene vomeronasal 1 receptor 46 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • FLJ22242, FLJ32731, DKFZp686G24175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparan-alpha-glucosaminide N-acetyltransferase activity TAS
Traceable Author Statement
more info
 
transferase activity, transferring acyl groups IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transferase activity, transferring acyl groups IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
lysosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal transport IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 
tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
heparan-alpha-glucosaminide N-acetyltransferase
Names
transmembrane protein 76
NP_689632.2
XP_005273466.1
XP_005273467.1
XP_005273468.1
XP_005273469.1
XP_016868577.1
XP_016868578.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001363227.1NP_001350156.1  heparan-alpha-glucosaminide N-acetyltransferase isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC113191, BC042037, BC056149, BE327420, BM785837, DA395558, DB128369
    Conserved Domains (1) summary
    cl21495
    Location:239664
    DUF418; Protein of unknown function (DUF418)
  2. NM_001363228.1NP_001350157.1  heparan-alpha-glucosaminide N-acetyltransferase isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC113191, BC042037, BC056149, BE327420, BM785837, CV569400, DA395558, DB128369
    Conserved Domains (1) summary
    cl21495
    Location:264571
    DUF418; Protein of unknown function (DUF418)
  3. NM_001363229.1NP_001350158.1  heparan-alpha-glucosaminide N-acetyltransferase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC113191, BC042037, BC056149, BE327420, BM785837, DA370456, DA395558, DB128369
    Conserved Domains (1) summary
    cl21495
    Location:2347
    DUF418; Protein of unknown function (DUF418)
  4. NM_152419.2NP_689632.2  heparan-alpha-glucosaminide N-acetyltransferase isoform 1 precursor

    See identical proteins and their annotated locations for 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
    ENSP00000368965.4, OTTHUMP00000225906, ENST00000379644.8, OTTHUMT00000377293
    Conserved Domains (1) summary
    cl21495
    Location:239635
    DUF418; Protein of unknown function (DUF418)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005273409.1XP_005273466.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X1

    Conserved Domains (1) summary
    cl21495
    Location:239672
    DUF418; Protein of unknown function (DUF418)
  2. XM_005273410.1XP_005273467.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X2

    Conserved Domains (1) summary
    cl21495
    Location:239664
    DUF418; Protein of unknown function (DUF418)
  3. XM_005273411.1XP_005273468.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X3

    Conserved Domains (1) summary
    cl21495
    Location:264608
    DUF418; Protein of unknown function (DUF418)
  4. XM_017013088.1XP_016868577.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X4

    Conserved Domains (1) summary
    cl21495
    Location:264571
    DUF418; Protein of unknown function (DUF418)
  5. XM_005273412.4XP_005273469.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X5

    Conserved Domains (1) summary
    cl21495
    Location:239486
    DUF418; Protein of unknown function (DUF418)
  6. XM_017013089.2XP_016868578.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X6

    Conserved Domains (1) summary
    cl21495
    Location:2347
    DUF418; Protein of unknown function (DUF418)
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