TRIP4 - thyroid hormone receptor interactor 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9325

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

zf-C2HC5: Putative zinc finger motif, C2HC5-type (168 - 218)

ASCH

ASCH: ASCH domain (437 - 531)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 581 a.a.
Protein Preferred Names Protein Names

activating signal cointegrator 1

  • TR-interacting protein 4

TRIP4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86772 ASC1 Antibody (YA6465) WB, IHC-P Human, Rat

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

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
Others TRIP4 NCBI