MATR3 Gene Summary [Human]
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. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | MATR3 |
| Official Name | matrin 3 [Source:HGNC Symbol;Acc:HGNC:6912] |
| Ensembl ID | ENSG00000015479 |
| Bio databases IDs | |
| Aliases | matrin 3 |
| Synonyms | 1110061A14RIK, 2810017I02Rik, ALS21, D030046F20Rik, matrin 3, mKIAA0723, MPD2, P130/MAT3, snhg4, VCPDM |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MATR3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- U1 zinc finger
- protein binding
- structural molecule
- identical protein binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- amyotrophic lateral sclerosis type 21
role in cell
- expression in
- survival
- degradation in
- retention in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear pores
- inner nuclear membrane
- interchromatin granule clusters
- nuclear matrix
- chromatin
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MATR3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- posttranscriptional regulation of gene expression
- activation of innate immune response
- heart valve development
- ventricular septum development
- innate immune response
- blastocyst formation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear inner membrane
- membrane
- nuclear matrix
Molecular Function
What the gene product does at the molecular level
- miRNA binding
- identical protein binding
- zinc ion binding
- RNA binding
- protein binding
- structural molecule activity