Matrin-3
| Matrin-3 | ||
|---|---|---|
|
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| Ribbon model of amino acids 390–478 of the matrin-3 molecule of the house mouse ( Mus musculus ), according to PDB 1X4D | ||
| Properties of human protein | ||
| Mass / length primary structure | 94.6 kilodaltons / 847 amino acids (isoform 1)
62.6 kilodaltons / 559 amino acids (isoform 2) |
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| Identifier | ||
| Gene names | MATR3 ALS21; MPD2; VCPDM | |
| External IDs | ||
| Orthologue | ||
| human | House mouse | |
| Entrez | 9782 | 17184 |
| Ensemble | ENSG00000015479 | ENSMUSG00000037236 |
| UniProt | P43243 | Q8K310 |
| Refseq (mRNA) | NM_001194954 | NM_010771 |
| Refseq (protein) | NP_001181883 | NP_034901 |
| Gene locus | Chr 5: 139.29 - 139.33 Mb | Chr 18: 35.56 - 35.59 Mb |
| PubMed search | 9782 |
17184
|
Matrin-3 is a protein found in eukaryotes. The protein is encoded by the MATR3 gene , which in humans is located on the long arm of chromosome 5 (5q31.2). It is a protein that has been highly conserved in evolution . The MATR3 gene of the rat shows 96 percent sequence homology with that of humans. Matrin-3 is produced ( expressed ) by skeletal muscle cells and lymphoblasts , among other things .
Functions
After translation , Matrin-3 is transported into the cell nucleus . For that it has a nuclear localization signal (Engl. Nuclear localization signal, NLS). In the cell nucleus, it is part of the nuclear matrix . Matrin-3 has 2 zinc finger domains and 2 RNA recognition motifs (RRM). Several functions of Matrin-3 are suggested. Matrin-3 likely plays a role in chromatin organization , DNA replication , transcription, and repair, as well as RNA processing and the transport of RNA .
Medical importance
A gene mutation in the MATR3 gene is the cause of distal myopathy 2 (also vocal cord and pharyngeal weakness with distal myopathy, VCPDM) .
Individual evidence
- ↑ a b J. Senderek, SM Garvey u. a .: Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. In: American Journal of Human Genetics Volume 84, Number 4, April 2009, pp. 511-518, ISSN 1537 -6605 . doi : 10.1016 / j.ajhg.2009.03.006 . PMID 19344878 . PMC 266797 (free full text).
- ↑ a b M. Salton, R. Elkon u. a .: Matrin 3 binds and stabilizes mRNA. In: PloS one Volume 6, Number 8, 2011, p. E23882, ISSN 1932-6203 . doi : 10.1371 / journal.pone.0023882 . PMID 21858232 . PMC 315747 (free full text).