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

    Gene ID: 138050, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (43140464..43202855)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (43409397..43471962)
    RS_2024_09 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 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. 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
    2. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. Feldhammer M, et al. Hum Mutat, 2009 Jun. PMID 19479962
    3. Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). Fedele AO, et al. Hum Mutat, 2010 Jul. PMID 20583299
    4. Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Zhao H, et al. J Cell Mol Med, 2024 Apr. PMID 38613342, Free PMC Article
    5. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Canals I, et al. Clin Genet, 2011 Oct. PMID 20825431

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
      Title: Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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).
    8. 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.
    9. 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).
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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