ARSG - arylsulfatase G Gene

中文名称：芳基硫酸酯酶 G

种属: Homo sapiens

同用名: USH4

基因 ID: 22901 | 基因类型: protein coding

关于 ARSG

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,259,170-68,452,019 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 16 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 2.8), placenta (RPKM 2.8) and 25 other tissues.

功能概要

该基因编码的蛋白质属于硫酸酯酶家族。硫酸酯酶水解来自硫酸化类固醇、碳水化合物、蛋白多糖和糖脂的硫酸酯。它们参与激素生物合成、细胞信号传导调节和大分子降解。这种蛋白质在酸性 pH 下表现出芳基硫酸酯酶活性，这是溶酶体硫酸酯酶的典型特征，并且已被证明定位于溶酶体中。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 6 月]

The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated Steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

ARSG 基因产物(13)

mRNA	Protein	Name
NM_001267727.2	NP_001254656.1	arylsulfatase G isoform 1 precursor
NM_001352899.2	NP_001339828.1	arylsulfatase G isoform 1 precursor
NM_001352900.2	NP_001339829.1	arylsulfatase G isoform 1 precursor
NM_001352901.2	NP_001339830.1	arylsulfatase G isoform 1 precursor
NM_001352902.2	NP_001339831.1	arylsulfatase G isoform 1 precursor
NM_001352903.2	NP_001339832.1	arylsulfatase G isoform 2 precursor
NM_001352904.2	NP_001339833.1	arylsulfatase G isoform 2 precursor
NM_001352905.2	NP_001339834.1	arylsulfatase G isoform 2 precursor
NM_001352906.2	NP_001339835.1	arylsulfatase G isoform 2 precursor
NM_001352907.2	NP_001339836.1	arylsulfatase G isoform 2 precursor
NM_001352909.2	NP_001339838.1	arylsulfatase G isoform 3
NM_001352910.2	NP_001339839.1	arylsulfatase G isoform 4 precursor
NM_014960.5	NP_055775.2	arylsulfatase G isoform 1 precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables N-sulfoglucosamine-3-sulfatase activity	IDA IDA: 通过直接分析推断	22689975	GOA
NOT enables arylsulfatase activity	IDA IDA: 通过直接分析推断	12461688	GOA
enables arylsulfatase activity	IDA IDA: 通过直接分析推断	18283100	GOA
enables arylsulfatase activity	IMP IMP: 通过突变表型推断	29300381	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in sulfur compound metabolic process	IDA IDA: 通过直接分析推断	18283100	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	12461688	GOA
located in extracellular space	IDA IDA: 通过直接分析推断	18283100	GOA
located in lysosome	IDA IDA: 通过直接分析推断	18283100	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ARSG 蛋白结构

Sulfatase

Sulfatase_C

0
100
200
300
400
525 a.a.

蛋白主名

其他名称

arylsulfatase G

ASG

关联疾病

疾病名称

别名

Usher Syndrome, Type Iv

USH4	Usher Syndrome, Type 4
Usher Syndrome 4

Usher Syndrome, Type Iiia

Usher Syndrome Type 3	Ush3
Usher Syndrome Type 3a	USH3A
Usher Syndrome, Type Iii	Usher Syndrome, Type 3
Usher Syndrome, Type 3a	Usher Syndrome Type Iiia
Usher Syndrome 3a	Usher'S Syndrome Type 3
Usher Syndrome Iii	Usher Syndrome Type Iii

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Blepharospasm

Ceroid Lipofuscinosis, Neuronal, 6b

CLN4A	Neuronal Ceroid Lipofuscinosis 4a
CLN6B	Neuronal Ceroid Lipofuscinosis 6b
Autosomal Recessive Neuronal Ceroid Lipofuscinosis 4a	Cln4a Disease
Ceroid Lipofuscinosis, Neuronal, 4a , Autosomal Recessive	Adult Neuronal Ceroid Lipofuscinosis
Cln6 Disease Kufs Type A	Kufs Disease
Kufs Disease Autosomal Recessive	Kufs Disease, Autosomal Recessive

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

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Pharc Syndrome	PHARC
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Peripheral Neuropathy, Fiskerstrand Type	Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract

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

Usher Syndrome, Type I

USH1	Usher Syndrome Type 1
Us1	Usher Syndrome, Type 1b
Usher Syndrome Type 1e	Retinitis Pigmentosa And Congenital Deafness
Usher Syndrome, Type Ie	USH1E
Usher Syndrome, Type 1e	Usher Syndrome, Type 1a
Usher Syndrome, Type Ib	Usher Syndrome Type 1b
Usher Syndrome Type Ie	Usher Syndrome Type I
Usher 1	Usher Syndrome, Type 1
Ush1a	Usher Syndrome, Type I, French Variety
Usher Syndrome, Type Ia	Usher Syndrome 1b
USH1B	Usher'S Syndrome Type 1b
Usher Syndrome Type Ib	Ushib

Focal Hand Dystonia

Organic Writer'S Cramp

Dystonia, Focal, Task-Specific

Cranio-Facial Dystonia

Craniofacial Dystonia

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

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

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

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

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

Myoclonic Epilepsy Of Lafora

Lafora Disease	Epilepsy, Progressive Myoclonic 2b
EPM2	Melf
Epilepsy, Progressive Myoclonic 2a	Epm2a
Lafora'S Disease	Lafora Body Disease
Lbd	Epilepsy, Progressive Myoclonic, 2a
Lafora Progressive Myoclonic Epilepsy	Epilepsy Progressive Myoclonic 2
Lafora Body Disorder	Pme Type 2
Progressive Myoclonic Epilepsy Type 2	Progressive Myoclonus Epilepsy Type 2
Epilepsy, Progressive Myoclonic 2	Epm2b
Ld	Progressive Myoclonic Epilepsy 2
Progressive Myoclonic Epilepsy 2a	Progressive Myoclonic Epilepsy 2b
Progressive Myoclonic Epilepsy Lafora Type	Epilepsy, Myoclonic, Of Lafora

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

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01038	ARSG Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	ARSG	VGNC	VGNC:104580
Canis familiaris	ARSG	VGNC	VGNC:51920
Bos taurus	ARSG	VGNC	VGNC:55034
Felis catus	ARSG	VGNC	VGNC:97358
Mus musculus	ARSG	MGD	MGI:1921258
Rattus norvegicus	ARSG	RGD	RGD:1306571

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ARSG - arylsulfatase G Gene

关于 ARSG

功能概要

ARSG 基因产物(13)

ARSG 蛋白结构

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

ARSG - arylsulfatase G Gene

关于 ARSG

功能概要

ARSG 基因产物(13)

ARSG 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z