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FLASH GENE
Symbol MATR3 contributors: mct - updated : 23-04-2009
HGNC name matrin 3
HGNC id 6912
Corresponding disease
MPD2 myopathy, distal 2
Location 5q31.2      Physical location : 138.609.440 - 138.667.365
Synonym symbol(s) KIAA0723, MAT3, MGC9105, DKFZp686K0542, DKFZp686K23100, VCPDM
DNA
TYPE functioning gene
STRUCTURE 56.34 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D5S600 - EGR1 - CTNNA1 - MATR3 - HARS - FGF1 - D5S2119 - D5S402 - D5S436 - qter
Physical map
GFRA3 5q31.1-q31.3 GDNF family receptor alpha 3 CDC25C 5q31 cell division cycle 25C C5orf6 5q31 chromosome 5 open reading frame 6 C5orf7 5q31 chromosome 5 open reading frame 7 LOC51308 5q31 SGC32445 protein EGR1 5q31.1 early growth response 1 ETF1 5q31.1 eukaryotic translation termination factor 1 HSPA9B 5q31.1 heat shock 70kDa protein 9B (mortalin-2) LOC391836 5 similar to ribosomal protein L10a CTNNA1 5q31.1 catenin (cadherin-associated protein), alpha 1, 102kDa LRRTM2 5q31.3 catenin (cadherin-associated protein), alpha 1, 102kDa SIL1 5q31 endoplasmic reticulum chaperone SIL1, homolog of yeast MATR3 5q31.1-q31.3 matrin 3 PAIP2 5q31.1-q31.3 matrin 3 SLC23A1 20p13 solute carrier family 23 (nucleobase transporters), member 1 PACAP 5q23-5q31 proapoptotic caspase adaptor protein LOC389333 5 LOC389333 LOC389334 5 LOC389334 LOC202051 5q31.3 hypothetical protein LOC202051 MGC29463 5q31.3 hypothetical protein MGC29463 LOC340061 5q31.3 hypothetical protein LOC340061 UBE2D2 5q31.3 ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast) HSPC195 5q31.3 hypothetical protein HSPC195 DKFZp761B0514 5q31.3 hypothetical protein DKFZp761B0514 NRG2 5q23-q33 neuregulin 2 PURA 5q31 purine-rich element binding protein A ORF1-FL49 5q31.3 putative nuclear protein ORF1-FL49 PFDN1 5q31-q32 prefoldin 1 DTR 5q23-q31 diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor) SLC4A9 5q31 solute carrier family 4, sodium bicarbonate cotransporter, member 9
RNA
TRANSCRIPTS type messenger
text variants 1 and 2 encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 5604 94.5 847 - PMID: 17658460
15 - 5165 94.5 847 - PMID: 17658460
17 - 5522 94.5 847 - -
14 - 4193 62.44 559 - -
15 - 5582 94.5 847 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES acid
STRUCTURE
motifs/domains
  • an extensive acidic domain
  • two RNA recognition motifs
  • one matrin type zinc finger
  • nuclear import and export motifs and several binding sites for DNA and RNA
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    text component of the nuclear matrix, which is a proteinaceous network that extends throughout the nucleus
    basic FUNCTION
  • may play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network
  • plays a significant role in controlling cell growth and proliferation, probably via formation of complexes with nuclear proteins that modulate pro- and antiapoptotic signaling pathways
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the nuclear matrix, which is a proteinaceous network that extends throughout the nucleus
  • integral component of nuclear matrix architecture implicated in interacting with other nuclear proteins and thus modulating the activity of proximal promoters
    • INTERACTION
    DNA several binding sites for DNA
    RNA nuclear import and export motifs and several binding sites for RNA
    small molecule
    protein
  • interact with SFPQ, and novel ATM target
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MPD2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    is responsible for reduced proliferation and leads to necrosis of endothelial cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS