DLG5 - discs large MAGUK scaffold protein 5 Gene

中文名称：圆盘大 MAGUK 支架蛋白 5

种属: Homo sapiens

同用名: PDLG; LP-DLG; P-DLG5

基因 ID: 9231 | 基因类型: protein coding

关于 DLG5

Cytogenetic location: 10q22.3 Genomic coordinates (GRCh38): 10:77,790,791-77,940,736 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 268 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 23.0), skin (RPKM 17.3) and 22 other tissues.

功能概要

该基因编码大圆盘 (DLG) 同系物家族的成员，膜相关鸟苷酸激酶 (MAGUK) 超家族的一个子集。除了 PDZ 和 SH3 结构域之外，MAGUK 蛋白还由催化失活的鸟苷酸激酶结构域组成，并且被认为在细胞间接触位点起支架分子的作用。由该基因编码的蛋白质定位于质膜和细胞质，并与粘附连接和细胞骨架的成分相互作用。它被提议在将细胞外信号传递到细胞骨架和维持上皮细胞结构中发挥作用。已经描述了替代剪接变体，但尚未确定它们的生物学性质。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the Cytoskeleton. It is proposed to function in the transmission of extracellular signals to the Cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

DLG5 基因产物(1)

mRNA	Protein	Name
NM_004747.4	NP_004738.3	disks large homolog 5

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 beta-catenin binding	IDA IDA: 通过直接分析推断	12657639	GOA
enables cytoskeletal protein binding	IDA IDA: 通过直接分析推断	12657639	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	23624079	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in epithelial to mesenchymal transition	IMP IMP: 通过突变表型推断	28169360	GOA
involved in maintenance of cell polarity	IMP IMP: 通过突变表型推断	28169360	GOA
involved in negative regulation of T cell proliferation	IMP IMP: 通过突变表型推断	28169360	GOA
involved in negative regulation of cell migration	IMP IMP: 通过突变表型推断	28169360	GOA
involved in negative regulation of hippo signaling	IMP IMP: 通过突变表型推断	28087714	GOA
involved in positive regulation of hippo signaling	IMP IMP: 通过突变表型推断	28169360	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell junction	IDA IDA: 通过直接分析推断	28169360	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

DLG5 蛋白结构

Takusan

PDZ

Guanylate_kin

0
300
600
900
1200
1500
1800
1919 a.a.

蛋白主名

其他名称

disks large homolog 5

discs large protein LP-DLG

DLG5 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
种属间	DLG5	Q8TDM6	Tgfbr2	Mus musculus	Q62312	IF	23624079
种属间	DLG5	Q8TDM6	Tgfbr2	Mus musculus	Q62312	Anti Tag CoIP	23624079
种属间	DLG5	Q8TDM6	Tgfbr1	Mus musculus	Q64729	IF	23624079
种属间	DLG5	Q8TDM6	Tgfbr1	Mus musculus	Q64729	Anti Tag CoIP	23624079

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

Inflammatory Bowel Disease 5

IBD5

Anorectal Stricture

Stenosis Of Rectum And Anus

Anorectal Malformations

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

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

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-RS03800	DLG5 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	DLG5	MGD	MGI:1918478
Bos taurus	DLG5	VGNC	VGNC:28087
Rattus norvegicus	DLG5	RGD	RGD:1308753
Felis catus	DLG5	VGNC	VGNC:61513
Canis familiaris	DLG5	VGNC	VGNC:50873
Macaca mulatta	DLG5	VGNC	VGNC:71921

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