TRIP4 gene

thyroid hormone receptor interactor 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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. May thereby play an important role in establishing distinct coactivator complexes under different cellular conditions. 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. 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).

From NCBI Gene:

  • Muscular dystrophy, congenital, davignon-chauveau type
  • Spinal muscular atrophy with congenital bone fractures 1

From UniProt:

Spinal muscular atrophy with congenital bone fractures 1 (SMABF1): An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. [MIM:616866]

Cytogenetic Location: 15q22.31, which is the long (q) arm of chromosome 15 at position 22.31

Molecular Location: base pairs 64,387,804 to 64,455,303 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q22.31, which is the long (q) arm of chromosome 15 at position 22.31
  • ASC-1
  • ASC1
  • HsT17391
  • MDCDC
  • SMABF1
  • ZC2HC5