MATR3

This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X.

Full Name

MATRIN 3

Function

May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).

Binds to N6-methyladenosine (m6A)-containing mRNAs and contributes to MYC stability by binding to m6A-containing MYC mRNAs (PubMed:32245947).

May bind to specific miRNA hairpins (PubMed:28431233).

Biological Process

Activation of innate immune response Source: UniProtKB
Heart valve development Source: BHF-UCL
Innate immune response Source: UniProtKB-KW
Posttranscriptional regulation of gene expression Source: CACAO
Ventricular septum development Source: BHF-UCL

Cellular Location

Nucleus matrix

Involvement in disease

Amyotrophic lateral sclerosis 21 (ALS21):
A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia.