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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

Annotation

Keyword

3D-structure
Acyltransferase
Alternative initiation
Disease variant
Disulfide bond
Glycoprotein
Lysosome
Mucopolysaccharidosis
Phosphoprotein
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 3** entries
GO Term	Evidence Code	PMID
protein complex oligomerization	IDA	20650889
lysosomal transport	IBA IDA	20650889
heparan sulfate proteoglycan catabolic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic 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

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

catabolic process [inference]

cellular catabolic process [inference]

sulfur compound catabolic process [inference]

heparan sulfate proteoglycan catabolic process

organic substance 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

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

sulfur compound catabolic process [inference]

heparan sulfate proteoglycan catabolic process

cellular catabolic process [inference]

sulfur compound 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

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

organic substance metabolic process [inference]

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

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

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

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic 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

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

organic substance 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

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

cellular process [inference]

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

sulfur compound catabolic process [inference]

heparan sulfate proteoglycan catabolic process

cellular catabolic process [inference]

sulfur compound 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 **all 5** entries
GO Term	Evidence Code	PMID
plasma membrane
lysosomal membrane	HDA IBA IDA TAS	17897319 19823584 20650889
lysosomal lumen	IEA
specific granule membrane
tertiary granule membrane

GO Hierarchy

cellular component

cellular anatomical entity [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 2** entries
GO Term	Evidence Code	PMID
heparan-alpha-glucosaminide N-acetyltransferase activity
acyltransferase activity	IDA	19823584 20650889

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.

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 entries **1 - 10** of 55 in total

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DO ID	Disease Name	Source
DOID:0050534	congenital stationary night blindness	DisGeNET
DOID:0050572	cone-rod dystrophy	DisGeNET
DOID:0050782	Zollinger-Ellison syndrome	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0110307	hypertrophic cardiomyopathy 1	DisGeNET
DOID:0110389	retinitis pigmentosa 73	DisGeNET Alliance of Genome Resources
DOID:0110870	congenital stationary night blindness 1A	DisGeNET
DOID:0111390	mucopolysaccharidosis Ih	DisGeNET
DOID:0111393	mucopolysaccharidosis type IIIC	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0111394	mucopolysaccharidosis type IIIB	DisGeNET

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:616544	retinitis pigmentosa 73
ORPHA:791	Leber congenital amaurosis 14 Leber congenital amaurosis 4 retinitis pigmentosa
OMIM:252930	mucopolysaccharidosis type 3C

PubChem Disease

GHR Health Conditions

Mucopolysaccharidosis type III

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **1 - 10** of 62 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	31423	FB:FBgn0029737
Callorhinchus milii	103180601		CALMI20785
Danio rerio	100329505	ZFIN:ZDB-GENE-140106-144
Astyanax mexicanus	103035691		ASTMX19008
Electrophorus electricus	113591477		ELEEL46554
Salmo salar	106590768		SALSA00987
Salmo salar	106610562		SALSA00987
Salmo salar	123739017		SALSA00987
Salmo trutta	115187357		SALTR46917
Gadus morhua	115539827		GADMO43620

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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GlyCosmos Portal v4.0.0

Last updated: August 19, 2024