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

Gene ID: 138050, updated on 7-Apr-2024

Summary

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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; AllianceGenome:HGNC:26527
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

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See HGSNAT in Genome Data Viewer
Location:
8p11.21-p11.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (43140464..43202855)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (43409397..43471962)
105.20220307 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, subunit alpha Neighboring gene RNA, U1 small nuclear 124, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27321 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42947622-42948528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42948529-42949434 Neighboring gene protein O-mannose kinase Neighboring gene NANOG hESC enhancer GRCh37_chr8:42971985-42972543 Neighboring gene Sharpr-MPRA regulatory region 5985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27324 Neighboring gene RNY5 pseudogene 6 Neighboring gene vomeronasal 1 receptor 45 pseudogene Neighboring gene vomeronasal 1 receptor 46 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. Schiff ER, et al. Am J Med Genet C Semin Med Genet, 2020 Sep. PMID 32770643, Free PMC Article
  2. Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family. Long Y, et al. Ophthalmic Genet, 2020 Aug. PMID 32347150
  3. Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease. Martins C, et al. Hum Mutat, 2019 Aug. PMID 31228227
  4. Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). Hu H, et al. Eur J Hum Genet, 2017 Feb. PMID 27827379, Free PMC Article
  5. HGSNAT has a TATA-less promoter with multiple starts of transcription. Richtrova E, et al. Gene, 2016 Oct 30. PMID 27452122

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
    Title: Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
  2. Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
    Title: Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
  3. Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.
    Title: Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.
  4. A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
    Title: A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
  5. Study reports molecular analysis defects in the HGSNAT gene in the largest group of mucopolysaccharidosis type IIIC (MPSIIIC) patients studied so far increasing the total number of HGSNAT variants associated with MPSIIIC to 71. Additionally, some of these variants show common ancestor haplotypes; others are several founder mutations.
    Title: Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
  6. A homozygous variant in HGSNAT identified in two siblings with Kluver-Bucy syndrome and Mucopolysaccharidosis type IIIC.
    Title: Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).
  7. Promoter variants rs4523300 and rs149596192 did not have a measurable impact on HGSNAT enzyme activity in MPS IIIC patients carrying them.
    Title: HGSNAT has a TATA-less promoter with multiple starts of transcription.
  8. Mutation id HGSNAT is associated with non-syndromic retinitis pigmentosa .
    Title: Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
  9. Identification of novel HGSNAT mutations in Sanfilippo syndrome type C Spanish patients.
    Title: Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
  10. Characterization of the biosynthesis, processing and kinetic mechanism of heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase
    Title: Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Mucopolysaccharidosis, MPS-III-C
MedGen: C0086649 OMIM: 252930 GeneReviews: Mucopolysaccharidosis Type III
Compare labs
Retinitis pigmentosa 73
MedGen: C4225287 OMIM: 616544 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 heparan sulfate proteoglycan catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lysosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
  
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 lysosomal lumen 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
  
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

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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
XP_047277344.1
XP_054215772.1
XP_054215773.1
XP_054215774.1
XP_054215775.1

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_001363227.2 → NP_001350156.1  heparan-alpha-glucosaminide N-acetyltransferase isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC113191, BC042037, BC056149, BE327420, BM785837, DA395558, DB128369
    UniProtKB/Swiss-Prot
    B4E2V0, Q68CP4
    Conserved Domains (1) summary
    cl21495
    Location:239 → 664
    Acyl_transf_3; Acyltransferase family

  2. NM_001363228.2 → NP_001350157.1  heparan-alpha-glucosaminide N-acetyltransferase isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC113191, BC042037, BC056149, BE327420, BM785837, CV569400, DA395558, DB128369
    UniProtKB/Swiss-Prot
    B4E2V0, Q68CP4
    Conserved Domains (1) summary
    cl21495
    Location:264 → 571
    DUF418; Protein of unknown function (DUF418)

  3. NM_001363229.2 → NP_001350158.1  heparan-alpha-glucosaminide N-acetyltransferase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC113191, BC042037, BC056149, BE327420, BM785837, DA370456, DA395558, DB128369
    UniProtKB/TrEMBL
    E5RJN0
    Conserved Domains (1) summary
    cl21495
    Location:2 → 347
    Acyl_transf_3; Acyltransferase family

  4. NM_152419.3 → NP_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
    B4E2V0, Q68CP4
    Related
    ENSP00000368965.4, ENST00000379644.9
    Conserved Domains (1) summary
    cl21495
    Location:239 → 635
    Acyl_transf_3; Acyltransferase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    43140464..43202855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273409.2 → XP_005273466.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X1

    UniProtKB/Swiss-Prot
    B4E2V0, Q68CP4
    Conserved Domains (1) summary
    cl21495
    Location:239 → 672
    DUF418; Protein of unknown function (DUF418)

  2. XM_005273411.2 → XP_005273468.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X2

    UniProtKB/Swiss-Prot
    B4E2V0, Q68CP4
    Conserved Domains (1) summary
    cl21495
    Location:264 → 608
    DUF418; Protein of unknown function (DUF418)

  3. XM_005273412.5 → XP_005273469.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X3

    Conserved Domains (1) summary
    cl21495
    Location:239 → 486
    DUF418; Protein of unknown function (DUF418)

  4. XM_047421388.1 → XP_047277344.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    43409397..43471962
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359797.1 → XP_054215772.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X1

  2. XM_054359798.1 → XP_054215773.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X2

  3. XM_054359799.1 → XP_054215774.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X3

  4. XM_054359800.1 → XP_054215775.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X4

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68CP4.2 GenPept UniProtKB/Swiss-Prot:Q68CP4

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