SLC6A6 - solute carrier family 6 member 6 Gene

中文名称：溶质载体家族 6 成员 6

种属: Homo sapiens

同用名: TAUT; HTRDC

基因 ID: 6533 | 基因类型: protein coding

关于 SLC6A6

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:14,402,576-14,489,349 (from NCBI)

This gene has 12 transcripts (splice variants), 298 orthologues, 19 paralogues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 26.5), spleen (RPKM 20.3) and 23 other tissues.

功能概要

该基因编码一种多通道膜蛋白，它是钠离子和氯离子依赖性转运蛋白家族的一员。编码的蛋白质转运牛磺酸和 β-丙氨酸。该基因在 21 号染色体上有一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 5 月]

This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

SLC6A6 基因产物(3)

mRNA	Protein	Name
NM_001134367.3	NP_001127839.2	sodium- and chloride-dependent taurine transporter isoform c
NM_001134368.4	NP_001127840.1	sodium- and chloride-dependent taurine transporter isoform b
NM_003043.6	NP_003034.2	sodium- and chloride-dependent taurine transporter isoform a

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 alanine transmembrane transporter activity	IDA IDA: 通过直接分析推断	19074966	GOA
enables amino acid transmembrane transporter activity	IDA IDA: 通过直接分析推断	24842606	GOA
enables amino acid:sodium symporter activity	IDA IDA: 通过直接分析推断	8010975	GOA
enables taurine transmembrane transporter activity	IDA IDA: 通过直接分析推断	19074966	GOA
enables taurine transmembrane transporter activity	IMP IMP: 通过突变表型推断	23519128	GOA
enables taurine:sodium symporter activity	IDA IDA: 通过直接分析推断	8010975	GOA
enables taurine:sodium symporter activity	IMP IMP: 通过突变表型推断	31345061	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in alanine transport	IDA IDA: 通过直接分析推断	19074966	GOA
involved in amino acid import across plasma membrane	IDA IDA: 通过直接分析推断	19074966	GOA
acts upstream of nitrogen compound transport	IDA IDA: 通过直接分析推断	24842606	GOA
acts upstream of positive regulation of cell differentiation	IMP IMP: 通过突变表型推断	23519128	GOA
involved in taurine transmembrane transport	IDA IDA: 通过直接分析推断	19074966	GOA
involved in taurine transmembrane transport	IMP IMP: 通过突变表型推断	23519128	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	31791063	GOA
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	31791063	GOA
located in microvillus membrane	IDA IDA: 通过直接分析推断	15166008	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	28112518	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

SLC6A6 蛋白结构

SNF

0
100
200
300
400
500
620 a.a.

蛋白主名

其他名称

sodium- and chloride-dependent taurine transporter

solute carrier family 6 (neurotransmitter transporter, taurine), member 6

关联疾病

疾病名称

别名

Hypotaurinemic Retinal Degeneration And Cardiomyopathy

HTRDC

Retinal Degeneration

Degeneration Of Retina

Megacolon

Dilatation Of Colon

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency	Gamt Deficiency
Creatine Deficiency Syndrome Due To Gamt Deficiency	Deficiency Of Guanidinoacetate Methyltransferase
CCDS2	Guanidinoacetate Methyltransferase Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 2	Language Development Disorders

Placental Choriocarcinoma

Choriocarcinoma Of The Placenta

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Gestational Choriocarcinoma

Gestational Chorionepithelioma

Molar Pregnancy With Choriocarcinoma

Iminoglycinuria

Iminoglycinuria, Digenic

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

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-179581	SLC6A19-IN-4	Inhibitor	99.55%	否
HY-RS13317	SLC6A6 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS16229	Slc6a6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS25565	Slc6a6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	SLC6A6	RGD	RGD:61912
Macaca mulatta	SLC6A6	VGNC	VGNC:77622
Mus musculus	SLC6A6	MGD	MGI:98488
Felis catus	SLC6A6	VGNC	VGNC:65418
Bos taurus	SLC6A6	VGNC	VGNC:34922
Canis familiaris	SLC6A6	VGNC	VGNC:46467

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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

粤ICP备2021105330号-3

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）

SLC6A6 - solute carrier family 6 member 6 Gene

关于 SLC6A6

功能概要

SLC6A6 基因产物(3)

SLC6A6 蛋白结构

关联疾病

直系同源

热门区域

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SLC6A6 - solute carrier family 6 member 6 Gene

关于 SLC6A6

功能概要

SLC6A6 基因产物(3)

SLC6A6 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