TIAM1 - TIAM Rac1 associated GEF 1 Gene

中文名称：TIAM Rac1 相关 GEF 1

种属: Homo sapiens

同用名: NEDLDS; TIAM-1

基因 ID: 7074 | 基因类型: protein coding

关于 TIAM1

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:31,118,418-31,559,087 (from NCBI)

This gene has 8 transcripts (splice variants), 284 orthologues and 22 paralogues. Broad expression in esophagus (RPKM 7.7), skin (RPKM 6.8) and 23 other tissues.

功能概要

该基因编码 RAC1 特异性鸟嘌呤核苷酸交换因子 (GEF) 。 GEF 介导二磷酸鸟苷 (GDP) 与三磷酸鸟苷 (GTP) 的交换。 GTP 的结合诱导 RAC1 的构象变化，使下游效应子结合并转导信号。因此，该基因调节影响细胞形状、迁移、粘附、生长、存活和极性以及影响肌动蛋白细胞骨架形成、内吞作用和膜运输的 RAC1 信号通路。因此，该基因在细胞侵袭、转移和癌变中起重要作用。除了 RAC1 之外，编码的蛋白质还激活其他 Rho 样 GTP 酶，例如 CDC42、RAC2、RAC3 和 RHOA。该基因编码多种蛋白质亚型，这些亚型经历多种分子内、蛋白质-蛋白质和磷酸化相互作用以及磷酸肌醇结合。较长和较短的同种型均具有 C 末端 Dbl 同源性 (DH) 和 pleckstrin 同源性 (PH) 结构域，而只有该基因的较长同种型具有 N 末端豆蔻酰化位点和下游 N 末端 PH 结构域、ras 结合结构域 (RBD) 和 PSD-95/DlgA/ZO-1 (PDZ) 结构域。[RefSeq 提供，2017 年 7 月]

This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017]

TIAM1 基因产物(12)

mRNA	Protein	Name
NM_001353684.2	NP_001340613.1	rho guanine nucleotide exchange factor TIAM1 isoform 2
NM_001353685.2	NP_001340614.1	rho guanine nucleotide exchange factor TIAM1 isoform 3
NM_001353686.2	NP_001340615.1	rho guanine nucleotide exchange factor TIAM1 isoform 4
NM_001353687.2	NP_001340616.1	rho guanine nucleotide exchange factor TIAM1 isoform 5
NM_001353688.1	NP_001340617.1	rho guanine nucleotide exchange factor TIAM1 isoform 1
NM_001353689.1	NP_001340618.1	rho guanine nucleotide exchange factor TIAM1 isoform 1
NM_001353690.1	NP_001340619.1	rho guanine nucleotide exchange factor TIAM1 isoform 1
NM_001353691.1	NP_001340620.1	rho guanine nucleotide exchange factor TIAM1 isoform 1
NM_001353692.1	NP_001340621.1	rho guanine nucleotide exchange factor TIAM1 isoform 1
NM_001353693.1	NP_001340622.1	rho guanine nucleotide exchange factor TIAM1 isoform 1
NM_001353694.2	NP_001340623.1	rho guanine nucleotide exchange factor TIAM1 isoform 1
NM_003253.3	NP_003244.2	rho guanine nucleotide exchange factor TIAM1 isoform 1

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 guanyl-nucleotide exchange factor activity	EXP EXP: 通过实验结果推断	15721239	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: 通过直接分析推断	23109420	GOA
enables guanyl-nucleotide exchange factor activity	IMP IMP: 通过突变表型推断	20361982	GOA
enables kinase binding	IPI IPI: 通过物理相互作用推断	23109420	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17440041	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Rac protein signal transduction	IDA IDA: 通过直接分析推断	25032858	GOA
involved in Rac protein signal transduction	IMP IMP: 通过突变表型推断	20361982	GOA
involved in activation of GTPase activity	IDA IDA: 通过直接分析推断	23109420	GOA
involved in cell migration	IMP IMP: 通过突变表型推断	20361982	GOA
involved in cell-matrix adhesion	IMP IMP: 通过突变表型推断	20361982	GOA
involved in positive regulation of cell migration	IDA IDA: 通过直接分析推断	25032858	GOA
involved in positive regulation of cell population proliferation	IDA IDA: 通过直接分析推断	25032858	GOA
involved in positive regulation of protein binding	IDA IDA: 通过直接分析推断	23109420	GOA
involved in protein-containing complex assembly	IDA IDA: 通过直接分析推断	23109420	GOA
involved in regulation of epithelial to mesenchymal transition	IDA IDA: 通过直接分析推断	20826792	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell-cell contact zone	IDA IDA: 通过直接分析推断	20361982	GOA
located in cell-cell junction	IDA IDA: 通过直接分析推断	20332120	GOA
located in cytosol	IDA IDA: 通过直接分析推断	23109420	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	23109420	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

TIAM1 蛋白结构

RBD

PDZ

RhoGEF

0
300
600
900
1200
1500
1591 a.a.

蛋白主名

其他名称

rho guanine nucleotide exchange factor TIAM1

T cell lymphoma invasion and metastasis 1

TIAM1 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	TIAM1	Q13009	CASK	Homo sapiens	O14936	Y2H Fragment Pooling	35914814
种属内	TIAM1	Q13009	CNTNAP4	Homo sapiens	Q9C0A0-1	NMR	23395182
种属内	TIAM1	Q13009	CNTNAP4	Homo sapiens	Q9C0A0-1	ITC	23395182
种属内	TIAM1	Q13009	SDC1	Homo sapiens	P18827	X-Ray Diffraction	23395182
种属内	TIAM1	Q13009	SDC1	Homo sapiens	P18827	ITC	23395182
种属内	TIAM1	Q13009	SDC1	Homo sapiens	P18827	Fluorescence Spectr	23395182
种属内	TIAM1	Q13009	SDC1	Homo sapiens	P18827	NMR	23395182

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

Neurodevelopmental Disorder With Language Delay And Seizures

NEDLDS

Lymphoma

Lymphoid Cancer	Lymphomas
Lymphoid Cancers	Lymphoid Neoplasm
Lymphoma Nos	Nhl - [Non-Hodgkin Lymphoma]
Non-Hodgkin Lymphoma	Non-Hodgkin Lymphoma, Nos
Non-Hodgkin Malignant Lymphoma Nos

Quadriplegia

Tetraplegia

Tetraplegias

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Immunodeficiency 73a With Defective Neutrophil Chemotaxis And Leukocytosis

Neutrophil Immunodeficiency Syndrome	IMD73A
Immunodeficiency 73a With Defective Neutrophil Chemotaxix And Leukocytosis	Immunodeficiency, Type 73a, With Defective Neutrophil Chemotaxix And Leukocytosis
Rac 2 Deficiency

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-16659	EHT 1864	Inhibitor	99.85%	否
HY-104064	1A-116		99.79%	否
HY-115376	Z62954982	Inhibitor	≥99.0%	否
HY-P1382A	Rac1 Inhibitor W56 TFA	Inhibitor	99.98%	否
HY-P1382	Rac1 Inhibitor W56	Inhibitor	/	否
HY-RS14515	TIAM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	TIAM1	VGNC	VGNC:56122
Bos taurus	TIAM1	VGNC	VGNC:56334
Felis catus	TIAM1	VGNC	VGNC:82570
Mus musculus	TIAM1	MGD	MGI:103306
Rattus norvegicus	TIAM1	RGD	RGD:1307455
Macaca mulatta	TIAM1	VGNC	VGNC:81886

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