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Guidelines

MIRAGE

heparan-alpha-glucosaminide N-acetyltransferase

Summary

Gene Symbol

HGSNAT

Aliases

FLJ32731
HGNAT

Organism

Homo sapiens (human)

External Links

NCBI Gene

138050

HGNC

26527

KEGG Gene ID

hsa:138050

PubChem

138050

Alliance of Genome Resources

HGNC:26527

JoGo

HGSNAT

TogoVar

HGSNAT

Annotation

Keyword

3D-structure
Acyltransferase
Alternative initiation
Disease variant
Disulfide bond
Glycoprotein
Lysosome
Mucopolysaccharidosis
Phosphoprotein
Proteomics identification
Reference proteome
Retinitis pigmentosa
Signal
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q8IVU6
Q68CP4	Transmembrane protein 76

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
lysosomal transport	IDA
lysosomal transport	IBA
heparan sulfate proteoglycan catabolic process	IEA
protein complex oligomerization	IDA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

carbohydrate derivative catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

carbohydrate derivative catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

protein-containing complex assembly [inference]

protein complex oligomerization

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

protein complex oligomerization

localization [inference]

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

establishment of localization in cell [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
lysosomal membrane	TAS
lysosomal membrane	IDA
lysosomal membrane	IBA
lysosomal membrane	IEA
lysosomal membrane	HDA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

membrane [inference]

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

secretory granule membrane [inference]

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

secretory granule membrane [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

Displaying **all 3** entries
GO Term	Evidence Code	PMID
heparan-alpha-glucosaminide N-acetyltransferase activity	TAS
heparan-alpha-glucosaminide N-acetyltransferase activity	IEA
acyltransferase activity	IDA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity

acyltransferase activity, transferring groups other than amino-acyl groups [inference]

acetyltransferase activity [inference]

N-acetyltransferase activity [inference]

heparan-alpha-glucosaminide N-acetyltransferase activity

N-acyltransferase activity [inference]

N-acetyltransferase activity [inference]

heparan-alpha-glucosaminide N-acetyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Heparan-alpha-glucosaminide N-acetyltransferase

Functional Category

M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying 1 entry
InterPro
Heparan-alpha-glucosaminide N-acetyltransferase, catalytic domain

Human Protein Atlas

ENSG00000165102

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K10532

Name

heparan-alpha-glucosaminide N-acetyltransferase [EC:2.3.1.78]

References

16960811

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R07815	2.3.1.78	G59547ZN	G21590TY

Rhea

acetyl-CoA

H⁺ + CoA

Enzyme

2.3.1.78

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0110389	retinitis pigmentosa 73	Alliance of Genome Resources
DOID:0111393	mucopolysaccharidosis type IIIC	Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 73 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000035	Abnormal testis morphology
HP:0000135	Hypogonadism
HP:0000232	Everted lower lip vermilion
HP:0000250	Dense calvaria
HP:0000268	Dolichocephaly
HP:0000280	Coarse facial features
HP:0000365	Hearing impairment
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment

Displaying **all 3** entries
Disease ID	Disease Name
OMIM:252930	mucopolysaccharidosis type 3C
OMIM:616544	retinitis pigmentosa 73
ORPHA:791	Leber congenital amaurosis 14 Leber congenital amaurosis 4 retinitis pigmentosa

PubChem Disease

GHR Health Conditions

Mucopolysaccharidosis type III

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.5.0

Last updated: April 6, 2026