HGSNAT - heparan-alpha-glucosaminide N-acetyltransferase Gene

Homo sapiens

Also known as RP73; HGNAT; MPS3C; TMEM76

Gene ID: 138050 | Gene type: protein coding

About HGSNAT

Cytogenetic location: 8p11.21-p11.1 Genomic coordinates (GRCh38): 8:43,140,464-43,202,855 (from NCBI)

This gene has 10 transcripts (splice variants), 201 orthologues and is associated with 7 phenotypes. Ubiquitous expression in skin (RPKM 11.5), gall bladder (RPKM 11.3) and 25 other tissues.

Summary

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]

HGSNAT Products(4)

mRNA	Protein	Name
NM_001363227.2	NP_001350156.1	heparan-alpha-glucosaminide N-acetyltransferase isoform 2 precursor
NM_001363228.2	NP_001350157.1	heparan-alpha-glucosaminide N-acetyltransferase isoform 3 precursor
NM_001363229.2	NP_001350158.1	heparan-alpha-glucosaminide N-acetyltransferase isoform 4
NM_152419.3	NP_689632.2	heparan-alpha-glucosaminide N-acetyltransferase isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables acyltransferase activity	IDA IDA: Inferred from direct assay	19823584	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in lysosomal transport	IDA IDA: Inferred from direct assay	20650889	GOA
involved in protein complex oligomerization	IDA IDA: Inferred from direct assay	20650889	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in lysosomal membrane	IDA IDA: Inferred from direct assay	19823584	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HGSNAT Protein Structure

DUF1624

0
100
200
300
400
500
635 a.a.

Protein Preferred Names

Protein Names

heparan-alpha-glucosaminide N-acetyltransferase

transmembrane protein 76

Related Diseases

Diseases

Alias

Mucopolysaccharidosis, Type Iiic

Mucopolysaccharidosis Type Iiic	MPS3C
Mps Iiic	Sanfilippo Syndrome C
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency	Hgsnat Deficiency
Mpsiiic	Mucopolysaccharidosis Type 3c
Sanfilippo Syndrome Type C	Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency
Mucopoly-Saccharidosis Type 3c	Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency	Mps 3c
Mps Iii-C	Mucopolysaccharidosis 3c
Mucopolysaccharidosis Iii	Mps Iii C

Retinitis Pigmentosa 73

RP73	Retinitis Pigmentosa, Type 73

Mucopolysaccharidosis Iii

Sanfilippo Syndrome	Mucopolysaccharidosis Type Iii
Mucopolysaccharidosis Type 3	Mps Iii
Mpsiii	Sanfilippo Disease
Heparan Sulfate Sulfatase Deficiency	Mucopolysaccharidosis, Mps-Iii
N-Sulphoglucosamine Sulphohydrolase Deficiency	Naglu Deficiency
Sanfilippo'S Syndrome	Mucopoly-Saccharidosis Type 3
Mps3	Sanfilippos Syndrome
Mucopolysaccharidosis Type Iiia	Mps Iii B

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Mucopolysaccharidosis, Type Iiid

Mucopolysaccharidosis Type Iiid	MPS3D
Mps Iiid	N-Acetylglucosamine-6-Sulfatase Deficiency
Sanfilippo Syndrome D	Gns Deficiency
Mucopolysaccharidosis Type 3d	Sanfilippo Syndrome Type D
Glucosamine N-Acetyl-6-Sulfatase Deficiency	Mpsiiid
Mps 3d	Mucopoly-Saccharidosis Type 3d
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency	Mps Iii-D
Mucopolysaccharidosis 3d	Sanfilippo D Syndrome
Mps Iii D

Lysosomal Storage Disease

Lysosomal Storage Diseases	Disorder Of Lysosomal Enzyme
Inborn Lysosomal Enzyme Disorder	Lysosomal Storage Metabolism Disorder
Lysosomal Storage Disorder

Mucopolysaccharidosis, Type Iiib

Mucopolysaccharidosis Type Iiib	MPS3B
Naglu Deficiency	Mps Iiib
Sanfilippo Syndrome B	N-Acetyl-Alpha-D-Glucosaminidase Deficiency
Mpsiiib	Mucopoly-Saccharidosis Type 3b
Mucopolysaccharidosis Type 3b	N-Acetyl-Alpha-Glucosaminidase Deficiency
Sanfilippo Syndrome Type B	Mps Iii B
Mps 3b	Mps Iii-B
Mucopolysaccharidosis 3b

Kluver-Bucy Syndrome

Bilateral Temporal Lobe Disorder	Klüver-Bucy Syndrome
Klver-Bucy Syndrome	Kluver Bucy Syndrome
Memory Loss, Extreme Sexual Behavior, Placidity, And Visual Distractibility	Post-Encephalitic Kluver Bucy Syndrome
Post-Traumatic Kluver Bucy Syndrome

Scheie Syndrome

Mucopolysaccharidosis Type Is	Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis Type I	Mucopolysaccharidosis I
Hurler-Scheie Syndrome	Mucopolysaccharidosis Type 1
Mucopolysaccharidosis Is	Mucopolysaccharidosis Type 1s
Mucopolysaccharidosis Type V	Hurler Syndrome
Idua Deficiency	Mps I
MPS1S	Mps1-S
Mucopolysaccharidosis Type V, Formerly	Mps V, Formerly
Mps5, Formerly	Lipochondrodystrophy
Mpsis	Mucopolysaccharidosis, Type I
Iduronidase Deficiency Disease	Mps I - Hurler Syndrome
Mucopolysaccharidosis, Mps-I	Mucopolysaccharidosis, Type 1
Attenuated Mps I	Mps 1
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)	Severe Mps I
Mps I H	Mps I H-S
Mps I S	Mps1
Mpsi	Mucopolysaccharidosis 1s
Mps Is	Mps-Is
Mps V	Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome	L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Mps1 - [Mucopolysaccharidosis Type 1]

Mucopolysaccharidosis, Type Ivb

Mucopolysaccharidosis Type Ivb	Mps Ivb
MPS4B	Morquio Syndrome B
Beta-D-Galactosidase Deficiency	Morquio Disease Type B
Mps 4b	Mucopolysaccharidosis Type 4b
Mpsivb	Morquio Disease, Type B
Mucopolysaccharidosis Type Iv-B	Mucopolysaccharidosis 4b
Morquio'S Syndrome B	Mps-Ivb

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia	MPS3A
Mps Iiia	Sanfilippo Syndrome A
Heparan Sulfate Sulfatase Deficiency	Sulfamidase Deficiency
Heparan Sulfamidase Deficiency	Mpsiiia
Mucopolysaccharidosis Type 3a	Sanfilippo Syndrome Type A
Mucopolysaccharidosis Iii-A	Heparane Sulfamidase Deficiency
Mps 3a	Mucopoly-Saccharidosis Type 3a
Mps Iii-A	Mucopolysaccharidosis 3a
Mucopolysaccharidosis Iii

C Syndrome

Opitz Trigonocephaly Syndrome	Trigonocephaly
Trigonocephaly Syndrome	Trigonocephaly C Syndrome
Opitz C Trigonocephaly	Opitz Trigonocephaly C Syndrome
Otcs	CSYN

Retinitis Pigmentosa 45

RP45	Retinitis Pigmentosa, Type 45

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis	Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
MPSPS	Mucopolysaccharidoses
Mps	Mucopolysaccharidosis-Like Plus Disease
Disorders Of Glycosaminoglycan Metabolism

Mucopolysaccharidosis, Type Iva

Mps Iva	Galns Deficiency
MPS4A	Morquio A Disease
Galactosamine-6-Sulfatase Deficiency	Morquio Syndrome A
Mucopolysaccharidosis Iva	Mucopolysaccharidosis Type Iva
Mpsiva	Morquio Disease Type A
Mucopolysaccharidosis Type 4a	N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency
Morquio Syndrome Type A	Mps 4a
Morquio Disease, Type A	Mucopolysaccharidosis 4a
Morquio'S Syndrome A	Mps Iv A
Mucopolysaccharidosis Iv	Mucopolysaccharidosis, Mps-Iv-A

Mucopolysaccharidosis, Type Vi

Maroteaux-Lamy Syndrome	Arylsulfatase B Deficiency
Mucopolysaccharidosis Type Vi	Mps Vi
Mucopolysaccharidosis Vi	Mucopolysaccharidosis Type 6
MPS6	Arsb Deficiency
N-Acetylgalactosamine-4-Sulfatase Deficiency	Mucopolysaccharidosis 6
N-Acetylgalactosamine 4-Sulfatase Deficiency	Deficiency Of N-Acetylgalactosamine-4-Sulfatase
Maroteaux - Lamy Syndrome	Mps Vi - Maroteaux-Lamy Syndrome
Mps 6	Maroteaux Lamy Syndrome
Mucopoly-Saccharidosis Type Vi	Polydystrophic Dwarfism
Asb Deficiency	Mpsvi
Maroteaux-Lamy Disease	Arsb - [Arylsulfatase B] Deficiency

Mucopolysaccharidosis, Type Ii

Hunter Syndrome	Iduronate 2-Sulfatase Deficiency
Mucopolysaccharidosis Ii	Mps Ii
Mucopolysaccharidosis Type Ii	MPS2
Sulfoiduronate Sulfatase Deficiency	Mucopolysaccharidosis, Mps-Ii
Ids Deficiency	Sids Deficiency
I2s Deficiency	Mucopolysaccharidosis Type 2
Mucopolysaccharidosis Type 2, Severe Form	Deficiency Of Iduronate-2-Sulphatase
Hunter'S Syndrome	Mps Ii - Hunter Syndrome
Iduronate-2-Sulfatase Deficiency	Attenuated Mps
Mps 2	Severe Mps Ii
Mpsii	Mucopolysaccharidosis Type 2, Attenuated Form
Hunter Syndrome Type B	Iduronate 2-Sulfatase Deficiency Type B
Mps2b	Mpsiib
Mucopolysaccharidosis Type 2b	Mucopolysaccharidosis Type Ii, Attenuated Form
Mucopolysaccharidosis Type Iib	Hunter Syndrome Type A
Iduronate 2-Sulfatase Deficiency Type A	Mps2a
Mpsiia	Mucopolysaccharidosis Type 2a
Mucopolysaccharidosis Type Ii, Severe Form	Mucopolysaccharidosis Type Iia
Mucopolysaccharidosis 2	Hunters Syndrome
Iduronate 2-Sulphatase Deficiency	Iduronate Sulfatase Deficiency
Iduronate Sulphatase Deficiency	Sulfo-Iduronate Sulfatase Deficiency
Sulfoiduronidate Sulfatase Deficiency	Sulpho-Iduronate Sulphatase Deficiency
Sulphoiduronidate Sulphatase Deficiency	Mps2 - [Mucopolysaccharidosis 2]

Mucopolysaccharidosis, Type Vii

Sly Syndrome	Beta-Glucuronidase Deficiency
Mucopolysaccharidosis Vii	Mucopolysaccharidosis Type Vii
MPS7	Mps Vii
Gusb Deficiency	Mucopolysaccharidosis Type 7
Mucopolysaccharidosis 7	Deficiency Of Beta-Glucuronidase
Mps Vii - Sly Syndrome	Mps 7
Mpsvii	Sly Disease
Sl

Mucopolysaccharidosis Iv

Morquio Syndrome	Mucopolysaccharidosis Type 4
Mucopolysaccharidosis Type Iv	Morquio Disease
Galactosamine-6-Sulfatase Deficiency	Mps4
Mpsiv	Morquio-Brailsford Disease
Chondroosteodystrophy	Deficiency Of Chondroitinsulphatase
Deficiency Of N-Acetylgalactosamine-6-Sulphatase	Mucopolysaccharidosis, Mps-Iv
Osteochondrodystrophy	Morquio'S Disease
Morquio'S Syndrome	Mps Iv
Mucopolysaccharidosis Iv	Morquios Syndrome
Mucopolysaccharidosis, Mps-Iv-A	Mucopolysaccharidosis Type Ivb
Galns Deficiency

Gm1 Gangliosidosis

Beta-Galactosidase Deficiency	Gangliosidosis Gm1
Deficiency Of Beta-Galactosidase	Beta Galactosidase 1 Deficiency
Beta-Galactosidosis	Glb 1 Deficiency
Beta-Galactosidase-1 Deficiency	Beta-Galactosidase-1 Deficiency
Glb1 Deficiency	Landing Disease
Gangliosidosis, Gm1

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis	Lysosomal Beta-Mannosidase Deficiency
Beta-Mannosidase Deficiency	Beta-D-Mannosidosis
Mannosidosis, Beta	MANSB
Lysosomal Beta A Mannosidosis

Hurler Syndrome

Mucopolysaccharidosis Ih	Mucopolysaccharidosis Type Ih
Mps1-H	MPS1H
Hurler Disease	Mpsih
Mucopolysaccharidosis Type 1h	Alpha-L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Hurler Disease Mps Type 1h
Hurler-Pfaundler Syndrome	L-Iduronidase Deficiency, Hurler Type
Mucopolysaccharidosis Type I Severe Form	Mucopolysaccharidosis 1h
Hurler'S Syndrome	Mps Ih
Mps-Ih	Pfaundler-Hurler Syndrome
Mucopolysaccharidosis I

Hypertrichosis

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06156	HGSNAT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	HGSNAT	VGNC	VGNC:41678
Bos taurus	HGSNAT	VGNC	VGNC:29837
Felis catus	HGSNAT	VGNC	VGNC:62806
Rattus norvegicus	HGSNAT	RGD	RGD:1560755
Mus musculus	HGSNAT	MGD	MGI:1196297

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