Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HGSNAT Gene

Aliases for HGSNAT Gene

  • Heparan-Alpha-Glucosaminide N-Acetyltransferase 2 3 5
  • Transmembrane Protein 76 2 3 4
  • TMEM76 3 4
  • EC 4
  • HGNAT 3
  • MPS3C 3
  • RP73 3

External Ids for HGSNAT Gene

Previous HGNC Symbols for HGSNAT Gene

  • TMEM76

Previous GeneCards Identifiers for HGSNAT Gene

  • GC08P043117
  • GC08P042995
  • GC08P041520

Summaries for HGSNAT Gene

Entrez Gene Summary for HGSNAT Gene

  • 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]

GeneCards Summary for HGSNAT Gene

HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase) is a Protein Coding gene. Diseases associated with HGSNAT include Mucopolysaccharidosis Type Iiic and Retinitis Pigmentosa 73. Among its related pathways are Innate Immune System and Glycosaminoglycan degradation. GO annotations related to this gene include transferase activity, transferring acyl groups and heparan-alpha-glucosaminide N-acetyltransferase activity.

UniProtKB/Swiss-Prot for HGSNAT Gene

  • Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.

Gene Wiki entry for HGSNAT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HGSNAT Gene

Genomics for HGSNAT Gene

Regulatory Elements for HGSNAT Gene

Enhancers for HGSNAT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G043054 1.2 ENCODE 11.1 -83.9 -83914 4.0 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 MEF2D HOOK3 IKBKB ENSG00000254673 ENSG00000254198 HGSNAT RNF170 POMK THAP1 FNTA GC08P043074
GH08G043101 0.9 Ensembl ENCODE 12.2 -38.1 -38115 1.5 DDX20 CEBPB EBF1 ARID1B ZNF316 EGR1 NCOR1 ZBTB33 MLLT1 EMSY ENSG00000254198 HGSNAT PIR33425 PIR40433
GH08G043190 0.9 Ensembl ENCODE 11.4 +51.0 50977 2.1 JUN HLF JUNB RELA ZFHX2 NFIC JUND ZNF316 FOS MAFK HGSNAT ENSG00000254198 FNTA VN1R45P RNY5P6
GH08G043159 0.8 ENCODE 11.8 +20.2 20163 2.2 CEBPG EBF1 RELA ARID3A CBX5 EED RELB ETV6 IKZF2 CREM HGSNAT ENSG00000254198 POMK RNY5P6 VN1R45P
GH08G042205 1.5 Ensembl ENCODE dbSUPER 4 -932.5 -932484 4.9 PKNOX1 ZNF133 SIN3A FEZF1 TCF12 FOS SP3 YY2 JUNB SMARCA4 POLB PLAT HGSNAT LOC101929897
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HGSNAT on UCSC Golden Path with GeneCards custom track

Promoters for HGSNAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for HGSNAT Gene

43,140,449 bp from pter
43,202,855 bp from pter
62,407 bases
Plus strand

Genomic View for HGSNAT Gene

Genes around HGSNAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HGSNAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HGSNAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HGSNAT Gene

Proteins for HGSNAT Gene

  • Protein details for HGSNAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Heparan-alpha-glucosaminide N-acetyltransferase
    Protein Accession:
    Secondary Accessions:
    • B4E2V0

    Protein attributes for HGSNAT Gene

    663 amino acids
    Molecular mass:
    73293 Da
    Quaternary structure:
    • Homooligomer. Homooligomerization is necessary for enzyme activity.
    • A signal sequence is predicted but has been shown not to be cleaved in the reticulum endoplasmic.

    Alternative splice isoforms for HGSNAT Gene


neXtProt entry for HGSNAT Gene

Post-translational modifications for HGSNAT Gene

  • Glycosylated.
  • Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second luminal domain and is essential for the activation of the enzyme.
  • Glycosylation at posLast=9494, posLast=142142, posLast=162162, and posLast=461461
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HGSNAT Gene

Domains & Families for HGSNAT Gene

Protein Domains for HGSNAT Gene


Suggested Antigen Peptide Sequences for HGSNAT Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HGSNAT: view

No data available for Gene Families and UniProtKB/Swiss-Prot for HGSNAT Gene

Function for HGSNAT Gene

Molecular function for HGSNAT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + heparan sulfate alpha-D-glucosaminide = CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide.
UniProtKB/Swiss-Prot Function:
Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.

Enzyme Numbers (IUBMB) for HGSNAT Gene

Gene Ontology (GO) - Molecular Function for HGSNAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015019 heparan-alpha-glucosaminide N-acetyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA,IDA 19823584
genes like me logo Genes that share ontologies with HGSNAT: view
genes like me logo Genes that share phenotypes with HGSNAT: view

Human Phenotype Ontology for HGSNAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HGSNAT Gene

MGI Knock Outs for HGSNAT:

Animal Model Products

CRISPR Products

miRNA for HGSNAT Gene

miRTarBase miRNAs that target HGSNAT

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for HGSNAT Gene

Localization for HGSNAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for HGSNAT Gene

Lysosome membrane; Multi-pass membrane protein. Note=Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HGSNAT gene
Compartment Confidence
plasma membrane 5
lysosome 5

Gene Ontology (GO) - Cellular Components for HGSNAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035579 specific granule membrane TAS --
genes like me logo Genes that share ontologies with HGSNAT: view

Pathways & Interactions for HGSNAT Gene

genes like me logo Genes that share pathways with HGSNAT: view

Pathways by source for HGSNAT Gene

3 Reactome pathways for HGSNAT Gene

Interacting Proteins for HGSNAT Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: Q68CP4-HGNAT_HUMAN ENSP00000368965 for HGSNAT Gene via IID STRING

Gene Ontology (GO) - Biological Process for HGSNAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0007041 lysosomal transport IDA 20650889
GO:0043312 neutrophil degranulation TAS --
GO:0051259 protein oligomerization IDA 20650889
genes like me logo Genes that share ontologies with HGSNAT: view

No data available for SIGNOR curated interactions for HGSNAT Gene

Drugs & Compounds for HGSNAT Gene

(1) Drugs for HGSNAT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme A Nutra 0

(2) Additional Compounds for HGSNAT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
heparan sulfate alpha-D-glucosaminide
genes like me logo Genes that share compounds with HGSNAT: view

Transcripts for HGSNAT Gene


(7) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HGSNAT Gene

Heparan-alpha-glucosaminide N-acetyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HGSNAT Gene

No ASD Table

Relevant External Links for HGSNAT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HGSNAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HGSNAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HGSNAT Gene

This gene is overexpressed in Testis (17.0), Blymphocyte (9.6), Pancreas (7.7), and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HGSNAT Gene

Protein tissue co-expression partners for HGSNAT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HGSNAT Gene:


SOURCE GeneReport for Unigene cluster for HGSNAT Gene:


mRNA Expression by UniProt/SwissProt for HGSNAT Gene:

Tissue specificity: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver.

Evidence on tissue expression from TISSUES for HGSNAT Gene

  • Liver(4.2)
  • Nervous system(4.1)
  • Intestine(3.8)
  • Lung(3.5)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HGSNAT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
  • pelvis
  • penis
  • testicle
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with HGSNAT: view

Primer Products

No data available for mRNA differential expression in normal tissues for HGSNAT Gene

Orthologs for HGSNAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HGSNAT Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HGSNAT 34 35
  • 99.63 (n)
(Canis familiaris)
Mammalia HGSNAT 34 35
  • 85.16 (n)
(Mus musculus)
Mammalia Hgsnat 34 16 35
  • 81.11 (n)
(Bos Taurus)
Mammalia HGSNAT 34 35
  • 80.78 (n)
(Monodelphis domestica)
Mammalia HGSNAT 35
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
-- 35
  • 69 (a)
-- 35
  • 57 (a)
-- 35
  • 54 (a)
(Gallus gallus)
Aves HGSNAT 34 35
  • 65.35 (n)
(Anolis carolinensis)
Reptilia HGSNAT 35
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hgsnat 34
  • 60.88 (n)
(Danio rerio)
Actinopterygii hgsnat 34
  • 59.79 (n)
  • 52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6903 34 35
  • 48.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005761 34
  • 46.35 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G27730 34
  • 44.7 (n)
(Oryza sativa)
Liliopsida Os01g0931100 34
  • 43.64 (n)
Species where no ortholog for HGSNAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HGSNAT Gene

Gene Tree for HGSNAT (if available)
Gene Tree for HGSNAT (if available)

Paralogs for HGSNAT Gene

genes like me logo Genes that share paralogs with HGSNAT: view

No data available for Paralogs for HGSNAT Gene

Variants for HGSNAT Gene

Sequence variations from dbSNP and Humsavar for HGSNAT Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs112029032 Pathogenic, Mucopolysaccharidosis 3C (MPS3C) [MIM:252930], Retinitis pigmentosa 73 (RP73) [MIM:616544] 43,199,504(+) TCGTC(A/G)CCACT reference, missense
VAR_030083 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
VAR_030084 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
VAR_030085 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
VAR_030086 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]

Structural Variations from Database of Genomic Variants (DGV) for HGSNAT Gene

Variant ID Type Subtype PubMed ID
dgv12123n54 CNV gain 21841781
dgv7187n100 CNV gain 25217958
dgv7188n100 CNV gain 25217958
dgv883n27 CNV gain 19166990
esv2674702 CNV deletion 23128226
esv3576566 CNV gain 25503493
esv3617026 CNV gain 21293372
esv3891387 CNV gain 25118596
nsv1032781 CNV gain 25217958
nsv1149562 CNV insertion 26484159
nsv470208 CNV gain 18288195
nsv519841 CNV gain+loss 19592680
nsv831302 CNV loss 17160897

Variation tolerance for HGSNAT Gene

Residual Variation Intolerance Score: 66.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HGSNAT Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HGSNAT Gene

Disorders for HGSNAT Gene

MalaCards: The human disease database

(10) MalaCards diseases for HGSNAT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis type iiic
  • mucopolysaccharidosis, type iiic
retinitis pigmentosa 73
  • rp73
retinitis pigmentosa
  • retinitis pigmentosa 1
kluver-bucy syndrome
  • klver-bucy syndrome
mucopolysaccharidosis iii
  • mucopolysaccharidosis type iiib
- elite association - COSMIC cancer census association via MalaCards


  • Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269 PubMed:16960811, ECO:0000269 PubMed:17033958, ECO:0000269 PubMed:17397050, ECO:0000269 PubMed:18024218, ECO:0000269 PubMed:19479962, ECO:0000269 PubMed:19823584, ECO:0000269 PubMed:20583299, ECO:0000269 PubMed:20825431}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 73 (RP73) [MIM:616544]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:25859010}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HGSNAT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HGSNAT: view

No data available for Genatlas for HGSNAT Gene

Publications for HGSNAT Gene

  1. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. (PMID: 17397050) Fedele A.O. … Ballabio A. (Hum. Mutat. 2007) 3 4 22 64
  2. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). (PMID: 16960811) Fan X. … Mahuran D.J. (Am. J. Hum. Genet. 2006) 2 3 4 64
  3. Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (PMID: 17033958) Hrebicek M. … Pshezhetsky A.V. (Am. J. Hum. Genet. 2006) 2 3 4 64
  4. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). (PMID: 25859010) Haer-Wigman L. … Ben-Yosef T. (Hum. Mol. Genet. 2015) 3 4 64
  5. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. (PMID: 20825431) Canals I. … Vilageliu L. (Clin. Genet. 2011) 3 4 64

Products for HGSNAT Gene

Sources for HGSNAT Gene

Loading form....