MATR3

Matrin-3 is a protein that in humans is encoded by the MATR3 gene.^[3][4]

MATR3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1X4D, 1X4F
Identifiers
Aliases	MATR3, ALS21, MPD2, VCPDM, matrin 3
External IDs	OMIM: 164015; MGI: 1298379; HomoloGene: 7830; GeneCards: MATR3; OMA:MATR3 - orthologs
Gene ontology Molecular function zinc ion binding protein binding structural molecule activity metal ion binding nucleic acid binding RNA binding identical protein binding miRNA binding Cellular component nuclear matrix nuclear inner membrane membrane nucleus Biological process posttranscriptional regulation of gene expression activation of innate immune response immune system process innate immune response heart valve development ventricular septum development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9782 17184 Ensembl ENSG00000015479 ENSG00000280987 ENSMUSG00000037236 UniProt P43243 Q8K310 RefSeq (mRNA) NM_001194954 NM_001194955 NM_001194956 NM_001282278 NM_018834 NM_199189 NM_010771 RefSeq (protein) NP_001181883 NP_001181884 NP_001181885 NP_001269207 NP_061322 NP_954659 NP_034901 NP_001386912 NP_001386913 NP_001386914 NP_001386915 NP_001386917 NP_001386918 NP_001386919 NP_001386920 NP_001386921 NP_001386922 Location (UCSC) n/a n/a PubMed search [1] [2]
Wikidata
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Function

The protein encoded by this gene is localized in the nuclear matrix. It may play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. Two transcript variants encoding the same protein have been identified for this gene.^[4]

Pathology

Mutations in the Matrin 3 gene are associated with familial amyotrophic lateral sclerosis.^[5]