TRIP4 - thyroid hormone receptor interactor 4 Gene

Homo sapiens

Also known as ASC1; ASC-1; MDCDC; SMABF1; ZC2HC5; HsT17391

Gene ID: 9325 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone acetyltransferase binding	IPI IPI: Inferred from physical interaction	25219498	GOA
enables nuclear estrogen receptor binding	IPI IPI: Inferred from physical interaction	25219498	GOA
enables nuclear receptor binding	IDA IDA: Inferred from direct assay	10454579	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	25219498	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25219498	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	20873783	GOA
enables transcription coactivator activity	IMP IMP: Inferred from mutant phenotype	25219498	GOA
enables ubiquitin-like protein ligase binding	IPI IPI: Inferred from physical interaction	25219498	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in estrogen receptor signaling pathway	IDA IDA: Inferred from direct assay	25219498	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	25219498	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12077347	GOA
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	26924529	GOA
involved in rescue of stalled ribosome	IDA IDA: Inferred from direct assay	32579943	GOA
involved in rescue of stalled ribosome	IMP IMP: Inferred from mutant phenotype	32099016	GOA
involved in ribosome disassembly	IDA IDA: Inferred from direct assay	32579943	GOA
involved in ribosome-associated ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	32099016	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of activating signal cointegrator 1 complex	IDA IDA: Inferred from direct assay	12077347	GOA
colocalizes with centrosome	IDA IDA: Inferred from direct assay	20873783	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10454579	GOA
located in neuromuscular junction	IMP IMP: Inferred from mutant phenotype	26924529	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10454579	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	20873783	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRIP4 Protein Structure

zf-C2HC5

ASCH

0
100
200
300
400
500
581 a.a.

Protein Preferred Names

Protein Names

activating signal cointegrator 1

TR-interacting protein 4

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15080	TRIP4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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