MATR3

Matrin 3

PDB rendering based on 1x4d.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MATR3 ; ALS21; MPD2; VCPDM
External IDs OMIM: 164015 MGI: 1298379 HomoloGene: 7830 GeneCards: MATR3 Gene
Orthologs
Species Human Mouse
Entrez 9782 17184
Ensembl ENSG00000015479 ENSMUSG00000037236
UniProt P43243 Q8K310
RefSeq (mRNA) NM_001194954 NM_010771
RefSeq (protein) NP_001181883 NP_034901
Location (UCSC) Chr 5:
139.29 – 139.33 Mb
Chr 18:
35.56 – 35.59 Mb
PubMed search

Matrin-3 is a protein that in humans is encoded by the MATR3 gene.[1][2]

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.[2]

Pathology

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

References

  1. Belgrader P, Dey R, Berezney R (Jun 1991). "Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain". J Biol Chem 266 (15): 9893–9. PMID 2033075.
  2. 1 2 "Entrez Gene: MATR3 matrin 3".
  3. Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ (2014). "Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis". Nat. Neurosci. 17 (5): 664–6. doi:10.1038/nn.3688. PMID 24686783.

Further reading

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