CLTRN - collectrin, amino acid transport regulator Gene

中文名称：Collectrin，氨基酸转运调节因子

种属: Homo sapiens

同用名: NX17; NX-17; TMEM27

基因 ID: 57393 | 基因类型: protein coding

关于 CLTRN

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:15,627,318-15,675,644 (from NCBI)

This gene has 2 transcripts (splice variants), 173 orthologues and is associated with 1 phenotype. Biased expression in kidney (RPKM 116.5) and liver (RPKM 8.9).

功能概要

该基因编码一种 1 型跨膜蛋白，该蛋白对于将氨基酸转运蛋白运输到近端小管的顶端刷状缘很重要。编码的蛋白质与氨基酸转运蛋白结合并调节它们在质膜上的表达。它还通过调节胰腺 β 细胞中 SNARE (可溶性 N-乙基马来酰亚胺敏感因子附着蛋白受体) 复合物的形成来控制胰岛素胞吐作用。所编码蛋白质的细胞外结构域可能会被切割并从质膜上脱落，特别是在胰腺 β 细胞中。[RefSeq 提供，2013 年 6 月]

This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling Insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]

CLTRN 基因产物(1)

mRNA	Protein	Name
NM_020665.6	NP_065716.1	collectrin 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 protein binding	IPI IPI: 通过物理相互作用推断	16330323	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	22628310	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in SNARE complex assembly	IDA IDA: 通过直接分析推断	16330323	GOA
acts upstream of positive effect calcium-ion regulated exocytosis	IDA IDA: 通过直接分析推断	16330323	GOA
acts upstream of positive effect insulin secretion involved in cellular response to glucose stimulus	IDA IDA: 通过直接分析推断	16330323	GOA
involved in positive regulation of L-proline import across plasma membrane	IGI IGI: 通过遗传相互作用推断	25534429	GOA
involved in regulation of transmembrane transporter activity	IGI IGI: 通过遗传相互作用推断	25534429	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	16330323	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	21907142	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

蛋白主名

其他名称

collectrin

kidney-specific membrane protein

CLTRN 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	CLTRN	Q9HBJ8	SMCO4	Homo sapiens	Q9NRQ5	Validated Y2H	32296183
种属内	CLTRN	Q9HBJ8	UBE2J1	Homo sapiens	Q9Y385	Validated Y2H	32296183
种属内	CLTRN	Q9HBJ8	UBE2J1	Homo sapiens	Q9Y385	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CLTRN 蛋白

目录号	产品名	蛋白编号	纯度
HY-P77246	Collectrin/TMEM27 Protein, Human (HEK293, Fc)	Q9HBJ8 (E15-P141)	≥95%

关联疾病

疾病名称

别名

Aminoaciduria

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

Iminoglycinuria

Iminoglycinuria, Digenic

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3	MODY3
Mody, Type Iii	Mody Type 3
Mody, Type 3	Maturity-Onset Diabetes Of The Young 3
Mody-3	Diabetes Of The Young, Maturity-Onset, Type 3

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

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-RS02847	CLTRN Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CLTRN	RGD	RGD:708489
Mus musculus	CLTRN	MGD	MGI:1926234
Canis familiaris	CLTRN	VGNC	VGNC:47568
Others	CLTRN	NCBI

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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）

CLTRN - collectrin, amino acid transport regulator Gene

关于 CLTRN

功能概要

CLTRN 基因产物(1)

CLTRN 蛋白互作信息

重组 CLTRN 蛋白

关联疾病

直系同源

热门区域

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CLTRN - collectrin, amino acid transport regulator Gene

关于 CLTRN

功能概要

CLTRN 基因产物(1)

CLTRN 蛋白互作信息

重组 CLTRN 蛋白

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