MATR3

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
MATR3
Protein MATR3 PDB 1x4d.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMATR3, ALS21, MPD2, VCPDM, matrin 3
External IDsMGI: 1298379 HomoloGene: 7830 GeneCards: MATR3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_010771

RefSeq (protein)

NP_034901

Location (UCSC)n/aChr 18: 35.56 – 35.59 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Matrin-3 is a protein that in humans is encoded by the MATR3 gene.[4][5]

Function[edit]

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.[5]

Pathology[edit]

Mutations in the Matrin 3 gene are associated with familial amyotrophic lateral sclerosis.[6]

References[edit]

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037236 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:".
  3. ^ "Mouse PubMed Reference:".
  4. ^ 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.
  5. ^ a b "Entrez Gene: MATR3 matrin 3".
  6. ^ 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. PMC 4000579. PMID 24686783.

Further reading[edit]