Hgsnat heparan-alpha-glucosaminide N-acetyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hgsnatprovided by MGI
Official Full Name: heparan-alpha-glucosaminide N-acetyltransferaseprovided by MGI
Primary source: MGI:MGI:1196297
See related: Ensembl:ENSMUSG00000037260 AllianceGenome:MGI:1196297
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tmem76; D8Ertd354e; 9430010M12Rik
Summary: Enables heparan-alpha-glucosaminide N-acetyltransferase activity. Involved in heparan sulfate proteoglycan catabolic process. Is active in lysosomal lumen. Is expressed in central nervous system; eye; and long bone epiphyseal plate. Used to study mucopolysaccharidosis III and mucopolysaccharidosis type IIIC. Human ortholog(s) of this gene implicated in mucopolysaccharidosis type IIIC and retinitis pigmentosa 73. Orthologous to human HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 12.4), subcutaneous fat pad adult (RPKM 10.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A2; 8 14.22 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (26432495..26466704, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (25944459..25976744, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hgsnat gene inactivation and heparan sulfate toxicity have an effect on the integrity of the renal corpuscle
Title: HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Gene trapped (1)
Targeted (1)

General gene information

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Markers

AW208455 (e-PCR)
- UniSTS:179724

RH127031 (e-PCR)
- UniSTS:167565

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables heparan-alpha-glucosaminide N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables heparan-alpha-glucosaminide N-acetyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in heparan sulfate proteoglycan catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in lysosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosomal transport	ISO Inferred from Sequence Orthology more info
involved_in lysosomal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein complex oligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein complex oligomerization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in lysosomal lumen	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: heparan-alpha-glucosaminide N-acetyltransferase

Names: transmembrane protein 76

NP_084160.2

EC 2.3.1.78

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.