SLC22A4 - solute carrier family 22 member 4 Gene

中文名称：溶质载体家族 22 成员 4

种属: Homo sapiens

同用名: OCTN1; DFNB60

基因 ID: 6583 | 基因类型: protein coding

关于 SLC22A4

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,294,394-132,344,190 (from NCBI)

This gene has 3 transcripts (splice variants), 449 orthologues, 22 paralogues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 7.1), small intestine (RPKM 3.8) and 16 other tissues.

功能概要

肝脏、肾脏、肠道和其他器官中的多特异性有机阳离子转运蛋白对于消除许多内源性小有机阳离子以及多种药物和环境毒素至关重要。编码的蛋白质是一种有机阳离子转运蛋白和质膜整合蛋白，包含 11 个假定的跨膜结构域以及一个核苷酸结合位点基序。这种蛋白质的运输至少部分依赖于 ATP。[RefSeq 提供，2008 年 7 月]

Polyspecific organic cation transporters in the liver, kidney, intestine, and Other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]

SLC22A4 基因产物(1)

mRNA	Protein	Name
NM_003059.3	NP_003050.2	solute carrier family 22 member 4

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 PDZ domain binding	IPI IPI: 通过物理相互作用推断	15523054	GOA
enables acetylcholine transmembrane transporter activity	IDA IDA: 通过直接分析推断	22569296	GOA
enables amino acid transmembrane transporter activity	IDA IDA: 通过直接分析推断	23567998	GOA
enables amino-acid betaine transmembrane transporter activity	IDA IDA: 通过直接分析推断	33124720	GOA
enables carnitine transmembrane transporter activity	IDA IDA: 通过直接分析推断	16729965	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15523054	GOA
enables quaternary ammonium group transmembrane transporter activity	IDA IDA: 通过直接分析推断	9426230	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in amino acid import across plasma membrane	IDA IDA: 通过直接分析推断	23567998	GOA
acts upstream of or within carnitine transport	IDA IDA: 通过直接分析推断	16729965	GOA
involved in quaternary ammonium group transport	IDA IDA: 通过直接分析推断	9426230	GOA
involved in xenobiotic transport	IDA IDA: 通过直接分析推断	23567998	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical plasma membrane	IDA IDA: 通过直接分析推断	18641280	GOA
located in basal plasma membrane	IDA IDA: 通过直接分析推断	35307651	GOA
located in mitochondrial membrane	IDA IDA: 通过直接分析推断	16729965	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	16729965	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

SLC22A4 蛋白结构

Sugar_tr

0
100
200
300
400
500
551 a.a.

蛋白主名

其他名称

solute carrier family 22 member 4

ET transporter

关联疾病

疾病名称

别名

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Hereditary Hearing Loss And Deafness

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Inflammatory Bowel Disease 5

IBD5

Carnitine Deficiency, Systemic Primary

Carnitine Uptake Defect	Renal Carnitine Transport Defect
Systemic Primary Carnitine Deficiency	CDSP
Systemic Carnitine Deficiency	Carnitine Transporter Deficiency
Cud	Primary Carnitine Deficiency
Carnitine Uptake Deficiency	Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
Carnitine Deficiency, Primary	Systemic Primary Carnitine Deficiency Disease
Deficiency Of Plasma-Membrane Carnitine Transporter	Scd
Carnitine Transporter, Plasma-Membrane, Deficiency Of	Carnitine Transport Defect
Carnitine Plasma-Membrane Transporter Deficiency	Carnitine Transporter Defect
Spcd

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Inflammatory Bowel Disease 1

Inflammatory Bowel Disease 1	IBD1
Crohn Disease-Associated Growth Failure	Crohn Disease
Regional Enteritis	Ulcerative Colitis
Crohn Disease-Associated Growth Failure, Susceptibility To	Inflammatory Bowel Disease 1, Crohn Disease
Bowel Disease, Inflammatory, Type 1

Psoriatic Arthritis

Psoriatic Arthritis, Susceptibility To	Psoriatic Arthropathy
Arthropathic Psoriasis	Arthritis, Psoriatic
Arthritis Psoriatica	PSORAS
Arthritic Psoriasis	Psoriasis Arthropathica
Arthritis Psoriatic	Arthritis, Psoriatic, Susceptibility To

Crohn'S Disease

Crohn Disease	Pediatric Crohn'S Disease
Regional Enteritis	Crohn'S Disease Of Large Bowel
Granulomatous Colitis	Enteritis, Granulomatous
Enteritis	Crohn'S Disease Of Colon
Colitis, Granulomatous	Crohn'S Enteritis
Enteritis, Regional	Ileitis
Adenoviral Enteritis	Acute Gastroenteropathy Due To Norwalk Agent
Viral Gastroenteritis Due To Norwalk Agent	Winter Vomiting
Epidemic Winter Vomiting Disease	Small Round Structured Virus Enteritis
Epidemic Vomiting Syndrome	Epidemic Vomiting
Epidemic Nausea	Epidemic Viral Gastroenteritis Due To Norwalk Virus
Noroviral Enteritis	Crohn Disease Nos
Crohns	Cd - [Crohn'S Disease]
Regional Enteritis Of Bowel	Crohn'S Regional Enteritis
Cobble-Stone Appearance Of Intestine	Intestinal Ulcer And Erosion Due To Crohn Disease
Granulomatous Enteritis

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-RS13076	SLC22A4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS19552	Slc22a4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS26048	Slc22a4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	SLC22A4	VGNC	VGNC:51760
Rattus norvegicus	SLC22A4	RGD	RGD:621149
Mus musculus	SLC22A4	MGD	MGI:1353479
Bos taurus	SLC22A4	VGNC	VGNC:34729
Macaca mulatta	SLC22A4	VGNC	VGNC:77419

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