TRIP4 - thyroid hormone receptor interactor 4 Gene

中文名称：甲状腺激素受体相互作用因子 4

种属: Homo sapiens

同用名: ASC1; ASC-1; MDCDC; SMABF1; ZC2HC5; HsT17391

基因 ID: 9325 | 基因类型: protein coding

关于 TRIP4

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:64,387,836-64,455,303 (from NCBI)

This gene has 12 transcripts (splice variants), 207 orthologues and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 15.4), kidney (RPKM 11.6) and 25 other tissues.

功能概要

该基因编码四聚体核激活信号共整合子 1 (ASC-1) 复合体的一个亚基，该复合体与转录共激活因子、核受体和基础转录因子相关，以促进核受体介导的转录。这种蛋白质位于细胞核中，包含一个 E1A 型锌指结构域，它介导与转录共激活因子和配体结合的核受体 (如甲状腺激素受体和维甲酸 X 受体 α) 的相互作用，但不介导糖皮质激素受体。该基因的突变与伴有先天性骨折的脊髓性肌萎缩症 1 (SMABF1) 相关。[RefSeq 提供，2016 年 4 月]

This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as Thyroid Hormone Receptor and retinoid X receptor alpha, but not Glucocorticoid Receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]

TRIP4 基因产物(2)

mRNA	Protein	Name
NM_001321924.2	NP_001308853.1	activating signal cointegrator 1 isoform 2
NM_016213.5	NP_057297.2	activating signal cointegrator 1 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 histone acetyltransferase binding	IPI IPI: 通过物理相互作用推断	25219498	GOA
enables nuclear estrogen receptor binding	IPI IPI: 通过物理相互作用推断	25219498	GOA
enables nuclear receptor binding	IDA IDA: 通过直接分析推断	10454579	GOA
enables protease binding	IPI IPI: 通过物理相互作用推断	25219498	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25219498	GOA
enables protein kinase binding	IPI IPI: 通过物理相互作用推断	20873783	GOA
enables transcription coactivator activity	IMP IMP: 通过突变表型推断	25219498	GOA
enables ubiquitin-like protein ligase binding	IPI IPI: 通过物理相互作用推断	25219498	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in estrogen receptor signaling pathway	IDA IDA: 通过直接分析推断	25219498	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	25219498	GOA
involved in regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	12077347	GOA
involved in regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	26924529	GOA
involved in rescue of stalled ribosome	IDA IDA: 通过直接分析推断	32579943	GOA
involved in rescue of stalled ribosome	IMP IMP: 通过突变表型推断	32099016	GOA
involved in ribosome disassembly	IDA IDA: 通过直接分析推断	32579943	GOA
involved in ribosome-associated ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	32099016	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of activating signal cointegrator 1 complex	IDA IDA: 通过直接分析推断	12077347	GOA
colocalizes with centrosome	IDA IDA: 通过直接分析推断	20873783	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	10454579	GOA
located in neuromuscular junction	IMP IMP: 通过突变表型推断	26924529	GOA
located in nucleus	IDA IDA: 通过直接分析推断	10454579	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	20873783	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

TRIP4 蛋白结构

zf-C2HC5

ASCH

0
100
200
300
400
500
581 a.a.

蛋白主名

其他名称

activating signal cointegrator 1

TR-interacting protein 4

TRIP4 抗体

目录号	产品名	应用	反应物种
HY-P86772	ASC1 Antibody (YA6465)	WB, IHC-P	Human, Rat

关联疾病

疾病名称

别名

Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	MDCDC
Congenital Muscular Dystrophy, Davignon-Chauveau Type

Spinal Muscular Atrophy With Congenital Bone Fractures 1

SMABF1	Spinal Muscular Atrophy, Type I, With Congenital Bone Fractures
Spinal Muscular Atrophy Type 1 With Congenital Bone Fractures	Sma1 With Congenital Bone Fractures
Atrophy, Muscular, Spinal, With Congenital Bone Fractures, Type 1

Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures

Smabf

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Postcholecystectomy Syndrome

Post Cholecystectomy Syndrome

Congenital Contractures

Congenital Contracture

Beukes Hip Dysplasia

Hip Dysplasia, Beukes Type	Beukes Familial Hip Dysplasia
BFHD	Cilliers-Beighton Syndrome
Osteoarthropathy, Premature Degenerative, Of Hip	Premature Degenerative Osteoarthropathy Of The Hip
BHD	Beukes Type Hip Dysplasia
Hip Dysplasia Beukes Type	Premature Degenerative Osteoarthropathy
Dysplasia, Hip, Beukes Type

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Immunodeficiency 30

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency	IMD30
Il12rb1 Deficiency	Mendelian Susceptibility To Interleukin 12 Receptor Beta 1 Deficiency
Msmd Due To Complete Il12rb1 Deficiency	Msmd Due To Complete Interleukin 12 Receptor Beta 1 Deficiency
Il-12râ1 Deficiency	Mendelian Susceptibility To Mycobacterial Infections Due To Il12 Deficiency
Immunodeficiency, Type 30

Multiminicore Disease

Multiminicore Myopathy	Mmd
Minicore Disease	Minicore Myopathy
Multi-Core Congenital Myopathy	Multi-Core Disease
Multi-Minicore Disease	Multicore Disease
Multicore Myopathy	Minicore Myopathy With External Ophthalmoplegia

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome	Arthropathy-Camptodactyly Syndrome
Pericarditis-Arthropathy-Camptodactyly Syndrome	Xyy Syndrome
Pac Syndrome	Cacp Syndrome
CACP	Fibrosing Serositis, Familial
Camptodactyly-Arthropathy-Pericarditis Syndrome	Cap Syndrome
47, Xyy Syndrome	47,Xyy Syndrome
Double Y Syndrome	Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Hypertrophic Synovitis, Congenital Familial	Congenital Familial Hypertrophic Synovitis
Xyy Karyotype	Y Disomy
Yy Syndrome	Familial Fibrosing Serositis
Disomy Y	Double Y
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome	Arthropathy Camptodactyly Syndrome
Camptodactyly Arthropathy Pericarditis Syndrome	Pericarditis Arthropathy Camptodactyly Syndrome
Jacob'S Syndrome	47,Xyy
Cdags Syndrome

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

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-RS15080	TRIP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS22881	Trip4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS29395	Trip4 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	TRIP4	RGD	RGD:1306838
Bos taurus	TRIP4	VGNC	VGNC:36360
Felis catus	TRIP4	VGNC	VGNC:66562
Canis familiaris	TRIP4	VGNC	VGNC:47847
Macaca mulatta	TRIP4	VGNC	VGNC:78649
Mus musculus	TRIP4	MGD	MGI:1928469

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