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This locus encodes a nuclear matrix protein.
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Depletion of SAFB1 reduced FUS's localization to chromatin-bound fraction and splicing activity, suggesting SAFB1 could tether FUS to chromatin compartment thorough N-terminal DNA-binding motif. Moreover, FUS interacts with another nuclear matrix-associated protein, Matrin3.
Using a novel RNA pulldown approach that utilized endogenous S1-tagged PINCR (a p53 (show TP53 ELISA Kits)-regulated long noncoding RNA), the authors show that PINCR associates with the enhancer region of these genes by binding to RNA-binding protein (show PTBP1 ELISA Kits) Matrin 3 that, in turn, associates with p53 (show TP53 ELISA Kits).
A missense mutation in MATR3 was identified in myopathy patients undergoing a needle electromyography.
Our findings indicate that mutations in Matrin 3 that are associated with ALS and myopathy do not dramatically alter the normal localization of the protein or readily induce inclusion formation.
Three-dimensional mapping of the lamin A (show LMNA ELISA Kits)-matrin-3 interface showed that the LMNA (show LMNA ELISA Kits) truncating mutation Delta303, which lacks the matrin-3 binding domain, was associated with an increased distance between lamin A (show LMNA ELISA Kits) and matrin-3.
Suppressing Matrin 3 powers a heightened and broader ZAP restriction of HIV-1 gene expression.
MATR3 mutation is identified to be a possible cause of amyotrophic lateral sclerosis.
No mutations were identified, indicating that MATR3 mutations are not a common cause of Amyotrophic lateral sclerosis in Australian familial cases with predominately European ancestry
MATR3 gene disruption is associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
Mutations in MATR3 are rare in French familial ALS and ALS with FTLD patients.
Matrin 3 (MATR3) is a novel protein interactor of PABPN1. MATR3 together with PABPN1 is required for normal paraspeckle function.
Matrin 3 declines significantly in the central nervous system through early development and young adulthood before stabilizing.
Matr3(Gt-ex13) gene trap insertion disturb the polyadenylation of MATR3 transcripts and alter Matrin 3 protein expression.
Matrin 3 interacts specifically with the heat shock proteins glucose-regulated protein 78 (show HSPA5 ELISA Kits), GRP75 (show HSPA9 ELISA Kits) and glutathione S-transferase (show GSTa2 ELISA Kits) pi isoform 2.
This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts with an upstream locus have been described. Related pseuodgenes have been defined on chr1 and chrX.
, vocal cord and pharyngeal weakness with distal myopathy
, nuclear scaffold protein P130/MAT3
, matrin 3