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Aliases for HGSNAT Gene

Aliases for HGSNAT Gene

  • Heparan-Alpha-Glucosaminide N-Acetyltransferase 2 3
  • Transmembrane Protein 76 2 3 4
  • TMEM76 3 4 6
  • MPS3C 3 6
  • EC 2.3.1.78 4
  • HGNAT 3

External Ids for HGSNAT Gene

Previous Symbols for HGSNAT Gene

  • TMEM76

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 mucopolysaccharidosis type iiib. Among its related pathways are Lysosome and Metabolism. 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

Genomic Location for HGSNAT Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HGSNAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HGSNAT Gene

Regulatory Elements 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
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn94, Asn142, Asn162, and Asn461

Other Protein References for HGSNAT Gene

No data available for DME Specific Peptides for HGSNAT Gene

Domains for HGSNAT Gene

Protein Domains for HGSNAT Gene

InterPro:
ProtoNet:
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:0016746 transferase activity, transferring acyl groups IDA 19823584
genes like me logo Genes that share ontologies with HGSNAT: view

miRNA for HGSNAT Gene

miRTarBase miRNAs that target HGSNAT

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for HGSNAT Gene

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

Pathways 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.ENSP00000225927%0d%0a9606.ENSP00000314606%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:0007041 lysosomal transport IDA 20650889
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with HGSNAT: view

Compounds for HGSNAT Gene

(3) HMDB Compounds for HGSNAT Gene

Compound Synonyms Cas Number PubMed IDs
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0
Heparan sulfate
  • HHS 5
9050-30-0
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

Integrated Proteomics: protein expression 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 expressions with HGSNAT: view

Orthologs for HGSNAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HGSNAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HGSNAT 36
  • 99.63 (n)
  • 100 (a)
HGSNAT 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HGSNAT 36
  • 80.78 (n)
  • 83.47 (a)
HGSNAT 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HGSNAT 36
  • 85.16 (n)
  • 84.62 (a)
HGSNAT 37
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hgsnat 36
  • 81.11 (n)
  • 82.17 (a)
Hgsnat 16
Hgsnat 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HGSNAT 37
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 70 (a)
OneToMany
-- 37
  • 69 (a)
OneToMany
-- 37
  • 57 (a)
OneToMany
-- 37
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves HGSNAT 36
  • 65.35 (n)
  • 63.17 (a)
HGSNAT 37
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HGSNAT 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hgsnat 36
  • 60.88 (n)
  • 57.36 (a)
zebrafish
(Danio rerio)
Actinopterygii hgsnat 36
  • 59.79 (n)
  • 57.19 (a)
HGSNAT 37
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005761 36
  • 46.35 (n)
  • 41.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6903 36
  • 48.44 (n)
  • 41.28 (a)
CG6903 37
  • 36 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G27730 36
  • 44.7 (n)
  • 34.63 (a)
rice
(Oryza sativa)
Liliopsida Os01g0931100 36
  • 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 MAF
rs1058608 -- 43,201,349(+) CTCCC(C/T)TCCCA utr-variant-3-prime
rs1126058 Benign 43,199,410(-) CCGAC(A/G)TATAC synonymous-codon, reference
rs1129987 -- 43,145,044(-) CTGTG(A/G)GGCTG intron-variant
rs3208566 -- 43,197,716(+) GAAGG(C/G)TTTAT reference, synonymous-codon
rs3739431 -- 43,201,370(-) AGGAG(A/G)GAGCA utr-variant-3-prime

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

Relevant External Links for HGSNAT Gene

HapMap Linkage Disequilibrium report
HGSNAT
Human Gene Mutation Database (HGMD)
HGSNAT
Locus Specific Mutation Databases (LSDB)
HGSNAT

Disorders for HGSNAT Gene

(1) OMIM Diseases for HGSNAT Gene (610453)

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.

(1) University of Copenhagen DISEASES for HGSNAT Gene

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

Publications for HGSNAT Gene

  1. 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
  2. Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (PMID: 17033958) Hrebicek M. … Pshezhetsky A.V. (Am. J. Hum. Genet. 2006) 2 3 4
  3. 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 23
  4. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 3 4
  5. Integral and associated lysosomal membrane proteins. (PMID: 17897319) Schroeder B. … Hasilik A. (Traffic 2007) 3 4

Products for HGSNAT Gene

Sources for HGSNAT Gene

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