SLC3A1 - solute carrier family 3 member 1 Gene

中文名称：溶质载体家族 3 成员 1

种属: Homo sapiens

同用名: D2H; ATR1; NBAT; RBAT; CSNU1

基因 ID: 6519 | 基因类型: protein coding

关于 SLC3A1

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:44,275,480-44,322,437 (from NCBI)

This gene has 10 transcripts (splice variants), 216 orthologues, 7 paralogues and is associated with 5 phenotypes. Biased expression in kidney (RPKM 175.5), small intestine (RPKM 50.6) and 6 other tissues.

功能概要

该基因编码一种 II 型膜糖蛋白，它是肾氨基酸转运蛋白的组成部分之一，可在肾小管和肠道中转运中性和碱性氨基酸。该基因的突变和缺失与胱氨酸尿症有关。已经描述了选择性剪接的转录本变体，但尚未确定它们的生物学有效性。[RefSeq 提供，2008 年 7 月]

This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic Amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

SLC3A1 基因产物(1)

mRNA	Protein	Name
NM_000341.4	NP_000332.2	neutral and basic amino acid transport protein rBAT

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	12167606	GOA
enables protein heterodimerization activity	IDA IDA: 通过直接分析推断	32494597	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in brush border membrane	IDA IDA: 通过直接分析推断	12167606	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

SLC3A1 蛋白结构

Alpha-amylase

0
200
400
600
685 a.a.

蛋白主名

其他名称

neutral and basic amino acid transport protein rBAT

B(0,+)-type amino acid transport protein

SLC3A1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SLC3A1	Q07837	SLC7A9	Homo sapiens	P82251	3D-EM	32494597
种属内	SLC3A1	Q07837	SLC7A9	Homo sapiens	P82251	Comigration in SDS	32494597

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine Disease

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease	2p21 Microdeletion Syndrome
HCS	Homozygous 2p16 Deletion Syndrome, Formerly
2p21 Deletion Syndrome	Del(2)(P21)
Monosomy 2p21	Atypical Hypotonia-Cystinuria Syndrome
Atypical Hcs

Nephrolithiasis

Kidney Stones	Stone - Kidney/Ureter
Kidney Calculi

Nephrocalcinosis

Hypercalcemic Nephropathy

Ureteral Disease

Ureteral Diseases	Ureteral Disorders
Disorder Of Ureter

Lysinuric Protein Intolerance

LPI	Dibasic Amino Aciduria Ii
Hyperdibasic Aminoaciduria	Dibasic Aminoaciduria 2
Dibasicamino Aciduria Ii	Congenital Lysinuria
Lpi - Lysinuric Protein Intolerance

Aminoaciduria

Myasthenic Syndrome, Congenital, 22

CMS22	Prepl Deficiency
Congenital Myasthenic Syndrome 22

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Nephrolithiasis, Uric Acid

Nephrolithiasis, Uric Acid, Susceptibility To	Uric Acid Urolithiasis
Uric Acid Nephrolithiasis	UAN
Acute Urate Nephropathy	Urolithiasis, Uric Acid
Urolithiasis, Uric Acid, Susceptibility To	Uric Acid Renal Calculus

Hartnup Disorder

Hartnup Disease	HND
Neutral 1 Amino Acid Transport Defect	Neutral Amino Acid Transport Defect
Deficiency Of Tryptophan Oxygenase	Hartnup'S Disease
Aminoaciduria, Hartnup Type	Disorder Of Neutral Amino Acid Transport

Hypotonia

Giant Hemangioma

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-RS13241	SLC3A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	SLC3A1	MGD	MGI:1195264
Felis catus	SLC3A1	VGNC	VGNC:65365
Bos taurus	SLC3A1	VGNC	VGNC:34870
Canis familiaris	SLC3A1	VGNC	VGNC:46409
Rattus norvegicus	SLC3A1	RGD	RGD:3709
Macaca mulatta	SLC3A1	VGNC	VGNC:77462

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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）

SLC3A1 - solute carrier family 3 member 1 Gene

关于 SLC3A1

功能概要

SLC3A1 基因产物(1)

SLC3A1 蛋白结构

SLC3A1 蛋白互作信息

关联疾病

直系同源

热门区域

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SLC3A1 - solute carrier family 3 member 1 Gene

关于 SLC3A1

功能概要

SLC3A1 基因产物(1)

SLC3A1 蛋白结构

SLC3A1 蛋白互作信息

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