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

Gene ID: 138050, updated on 16-Jul-2021

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
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
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Genomic context

See HGSNAT in Genome Data Viewer
Location:
8p11.21-p11.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (43140449..43202855)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42995607..43057998)

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22242, FLJ32731, DKFZp686G24175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables heparan-alpha-glucosaminide N-acetyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in lysosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lysosomal transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal membrane HDA PubMed 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in specific granule membrane TAS
Traceable Author Statement
more info
 
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
heparan-alpha-glucosaminide N-acetyltransferase
Names
transmembrane protein 76
NP_001350156.1
NP_001350157.1
NP_001350158.1
NP_689632.2
XP_005273466.1
XP_005273468.1
XP_005273469.1

NCBI Reference Sequences (RefSeq)

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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
    5016..67407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363227.2NP_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
    Acyl_transf_3; Acyltransferase family
  2. NM_001363228.2NP_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_001363229.2NP_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
    Acyl_transf_3; Acyltransferase family
  4. NM_152419.3NP_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, ENST00000379644.9
    Conserved Domains (1) summary
    cl21495
    Location:239635
    Acyl_transf_3; Acyltransferase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    43140449..43202855
    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_005273411.1XP_005273468.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X3

    Conserved Domains (1) summary
    cl21495
    Location:264608
    DUF418; Protein of unknown function (DUF418)
  3. 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)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_025070.1: Suppressed sequence

    Description
    NM_025070.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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