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FLASH GENE
Symbol MAMSTR contributors: mct - updated : 27-02-2013
HGNC name MEF2 activating motif and SAP domain containing transcriptional regulator
HGNC id 26689
Location 19q13.33      Physical location : 49.216.254 - 49.222.976
Genatlas name likely ortholog of MEF2-activating SAP transcriptional regulator
Synonym name myocardin-related transcription factor
Synonym symbol(s) FLJ36070, MGC117259, MASTR
DNA
TYPE functioning gene
STRUCTURE 6.72 kb     8 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1823 - 312 - 2006 16818234
10 - 1579 - 415 - 2006 16818234
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal MEF2-binding domain
  • a central proline-rich region containing a SAP domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • functioning as a MEF2 coactivator
  • having an essential function in regulation of myogenic development in the vertebrate embryo
  • essential role of MASTR in transcriptional regulation of MYOD1 expression, and activates a muscle-specific postnatal MYOD1 enhancer through associations with MEF2 and members of the Myocardin family
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cooperates with MYOD1 to activate skeletal muscle gene expression
  • acts as a potent coactivator of MEF2-dependent gene expression
  • directs MYOD1-dependent satellite cell differentiation during skeletal muscle regeneration
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    may be involved in muscle disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS