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 2.3.1.78 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 Glycosaminoglycan degradation and Lysosome. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around HGSNAT on UCSC Golden Path with GeneCards custom track

Genomic Location for HGSNAT Gene

Chromosome:
8
Start:
43,140,449 bp from pter
End:
43,202,855 bp from pter
Size:
62,407 bases
Orientation:
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:
    Q68CP4-HGNAT_HUMAN
    Recommended name:
    Heparan-alpha-glucosaminide N-acetyltransferase
    Protein Accession:
    Q68CP4
    Secondary Accessions:
    • B4E2V0

    Protein attributes for HGSNAT Gene

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

    Alternative splice isoforms for HGSNAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HGSNAT Gene

Proteomics data for HGSNAT Gene at MOPED

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 Asn 94, Asn 142, Asn 162, and Asn 461
  • Modification sites at PhosphoSitePlus

Other Protein References for HGSNAT Gene

No data available for DME Specific Peptides for HGSNAT Gene

Domains & Families for HGSNAT Gene

Protein Domains for HGSNAT Gene

InterPro:
ProtoNet:

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 --
genes like me logo Genes that share ontologies with HGSNAT: view

Human Phenotype Ontology for HGSNAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for HGSNAT Gene

miRTarBase miRNAs that target HGSNAT

No data available for Phenotypes , Animal Models , 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

COMPARTMENTS
Jensen Localization Image for HGSNAT Gene COMPARTMENTS Subcellular localization image for HGSNAT gene
Compartment Confidence
lysosome 5
vacuole 5
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for HGSNAT Gene

Pathways & Interactions for HGSNAT Gene

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

Pathways by source for HGSNAT Gene

Interacting Proteins for HGSNAT Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000368965%0d%0a9606.ENSP00000314606%0d%0a9606.ENSP00000225927%0d%0a
Selected Interacting proteins: ENSP00000368965 for HGSNAT Gene via STRING

Gene Ontology (GO) - Biological Process for HGSNAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
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
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
heparan sulfate alpha-D-glucosaminide
genes like me logo Genes that share compounds with HGSNAT: view

Transcripts for HGSNAT Gene

Unigene Clusters for HGSNAT Gene

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

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

No ASD Table

Relevant External Links for HGSNAT Gene

GeneLoc Exon Structure for
HGSNAT
ECgene alternative splicing isoforms for
HGSNAT

Expression for HGSNAT Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for HGSNAT Gene



SOURCE GeneReport for Unigene cluster for HGSNAT Gene Hs.600384

mRNA Expression by UniProt/SwissProt for HGSNAT Gene

Q68CP4-HGNAT_HUMAN
Tissue specificity: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver.
genes like me logo Genes that share expression patterns with HGSNAT: view

Protein tissue co-expression partners for HGSNAT Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia HGSNAT 35
  • 80.78 (n)
  • 83.47 (a)
HGSNAT 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HGSNAT 35
  • 85.16 (n)
  • 84.62 (a)
HGSNAT 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hgsnat 35
  • 81.11 (n)
  • 82.17 (a)
Hgsnat 16
Hgsnat 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HGSNAT 35
  • 99.63 (n)
  • 100 (a)
HGSNAT 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HGSNAT 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves HGSNAT 35
  • 65.35 (n)
  • 63.17 (a)
HGSNAT 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HGSNAT 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hgsnat 35
  • 60.88 (n)
  • 57.36 (a)
zebrafish
(Danio rerio)
Actinopterygii hgsnat 35
  • 59.79 (n)
  • 57.19 (a)
HGSNAT 36
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005761 35
  • 46.35 (n)
  • 41.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6903 35
  • 48.44 (n)
  • 41.28 (a)
CG6903 36
  • 36 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G27730 35
  • 44.7 (n)
  • 34.63 (a)
rice
(Oryza sativa)
Liliopsida Os01g0931100 35
  • 43.64 (n)
  • 31.88 (a)
Species with no ortholog for HGSNAT:
  • 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

ENSEMBL:
Gene Tree for HGSNAT (if available)
TreeFam:
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
VAR_030083 Mucopolysaccharidosis 3C (MPS3C)
VAR_030084 Mucopolysaccharidosis 3C (MPS3C)
VAR_030085 Mucopolysaccharidosis 3C (MPS3C)
VAR_030086 Mucopolysaccharidosis 3C (MPS3C)
VAR_030087 Mucopolysaccharidosis 3C (MPS3C)

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

Variant ID Type Subtype PubMed ID
nsv890846 CNV Gain 21882294
nsv831302 CNV Loss 17160897
nsv470208 CNV Gain 18288195
dgv883n27 CNV Gain 19166990
nsv519841 CNV Gain+Loss 19592680
esv2674702 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
HGSNAT
Human Gene Mutation Database (HGMD)
HGSNAT

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

Disorders for HGSNAT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mucopolysaccharidosis type iiic
  • acetyl-coa alpha-glucosaminide n-acetyltransferase deficiency
retinitis pigmentosa 73
  • rp73
retinitis pigmentosa
  • retinitis pigmentosa 1
mucopolysaccharidosis
  • mps
c syndrome
  • cat eye syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HGNAT_HUMAN
  • 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}. 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:
HGSNAT
genes like me logo Genes that share disorders with HGSNAT: view

No data available for Genatlas for HGSNAT Gene

Publications for HGSNAT Gene

  1. Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (PMID: 17033958) Hrebicek M. … Pshezhetsky A.V. (Am. J. Hum. Genet. 2006) 2 3 4 67
  2. 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 23
  3. 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. 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
  5. Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC. (PMID: 21957468) Fan X. … Mahuran D. (PLoS ONE 2011) 3

Products for HGSNAT Gene

Sources for HGSNAT Gene

Content