TRIP4

Chr 15q22.31

thyroid hormone receptor interactor 4

Aliases:: HsT17391, ZC2HC5, ASC-1
MANE:: ENST00000261884.8

OMIM: 604501 ↗NCBI: 9325 ↗Ensembl ↗

Annotations refreshed 11 hours ago.

Predicted protein structure

AlphaFold predicted structure

TRIP4 · Q15650

v62025-08-01

Predicted Aligned Error matrix for TRIP4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.2/ 100

Confident

581 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)45%
Low(50–70)14%
Very low(< 50)22%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spinal muscular atrophy with congenital bone fractures 1
0.72
congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
0.64
prenatal-onset spinal muscular atrophy with congenital bone fractures
0.58
centronuclear myopathy
0.43
pericarditis
0.28
myocardial ischemia
0.25
hereditary disease
0.19
proximal spinal muscular atrophy
0.08
amyotrophic lateral sclerosis
0.08
cervical carcinoma
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Activating signal cointegrator 1

Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nuclear receptors-mediated transcription (PubMed:10454579, PubMed:25219498). May thereby play an important role in establishing distinct coactivator complexes under different cellular conditions (PubMed:10454579, PubMed:25219498). Plays a role in thyroid hormone receptor and estrogen receptor transactivation (PubMed:10454579, PubMed:25219498). Also involved in androgen receptor transactivation (By similarity). Plays a pivotal role in the transactivation of NF-kappa-B, SRF and AP1 (PubMed:12077347). Acts as a mediator of transrepression between nuclear receptor and either AP1 or NF-kappa-B (PubMed:12077347). May play a role in the development of neuromuscular junction (PubMed:26924529). May play a role in late myogenic differentiation (By similarity). Also functions as part of the RQC trigger (RQT) complex that activates the ribosome quality control (RQC) pathway, a pathway that degrades nascent peptide chains during problematic translation (PubMed:32099016, PubMed:32579943, PubMed:36302773)