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FLASH GENE
Symbol MBNL3 contributors: mct/pgu - updated : 30-04-2018
HGNC name muscleblind-like 3 (Drosophila)
HGNC id 20564
Location Xq26.2      Physical location : 131.503.344 - 131.623.996
Synonym name
  • Cys3His CCG1-required protein
  • muscleblind-like X-linked protein
  • protein HCHCR
  • Synonym symbol(s) CHCR, FLJ11316, MBLX39, MBXL, MBLX, FLJ97142
    DNA
    TYPE functioning gene
    STRUCTURE 61.54 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    CXorf9 Xq26 chromosome X open reading frame 9 ZDHHC9 9 zinc finger, DHHC domain containing 9 LOC347465 Xq26.1 similar to sal-like 4 SDCCAG16 Xq26.1 serologically defined colon cancer antigen 16 FLJ11362 Xq25-q26.1 hypothetical protein FLJ11362 ELF4 Xq26 E74-like factor 4 (ets domain transcription factor) PDCD8 Xq25-q26 programmed cell death 8 (apoptosis-inducing factor) RAB33A Xq26.1 RAB33A, member RAS oncogene family FLJ20095 Xq26.1 hypothetical protein FLJ20095 SLC25A14 Xq24 solute carrier family 25 (mitochondrial carrier, brain), member 14 GPR119 Xq26.1 G protein-coupled receptor 119 CGI-79 Xq26.3-q27.3 G protein-coupled receptor 119 HT011 Xq26.1 uncharacterized hypothalamus protein HT011 COVA1 Xq25-q26.2 cytosolic ovarian carcinoma antigen 1 FLJ30058 Xq26.1 hypothetical protein FLJ30058 IGSF1 Xq25 immunoglobulin superfamily, member 1 LOC392540 X similar to olfactory receptor GA_x6K02T2Q64A-11927171-11926215 LOC392541 X similar to olfactory receptor MOR216-1 OR1AA1P Xq26.2 olfactory receptor, family 1, subfamily AA, member 1 pseudogene LOC392542 X similar to NACHT, leucine rich repeat and PYD containing 7; PYRIN-containing Apaf1-like protein 3; NACHT, LRR and PYD containing protein 7 LOC347468 Xq26.2 similar to Olfactory receptor 13H1 OR7L1P Xq26.2 olfactory receptor, family 7, subfamily L, member 1 pseudogene OR2AF2P Xq26.2 olfactory receptor, family 2, subfamily AF, member 2 pseudogene LOC389886 X similar to hypothetical protein MGC15416 MST4 Xq26.1 similar to hypothetical protein MGC15416 LOC90167 Xq26.2 hypothetical protein LOC90167 LOC392543 X similar to hypothetical protein FLJ10842 RAP2C Xq25 RAP2C, member of RAS oncogene family MBNL3 Xq26.2 muscleblind-like 3 (Drosophila) HS6ST2 Xq26.1-q26.2 heparan sulfate 6-O-sulfotransferase 2 USP26 Xq26.2 ubiquitin specific protease 26 LOC51270 Xq26.2 E2F-like protein GPC4 Xq26.1 glypican 4 GPC3 Xq26.1 glypican 3 LOC347475 Xq26.3 hypothetical gene supported by BC017958 LOC392544 X hypothetical gene supported by NM_152729 PHF6 Xq26 PHD finger protein 6 HPRT1 Xq26.1 hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome) MGC16121 Xq26.3 hypothetical protein MGC16121 PLAC1 Xq26 placenta-specific 1 LOC159090 Xq26.3 similar to hypothetical protein MGC17347 LOC159091 Xq26.3 hypothetical protein BC017868 DJ473B4 Xq26.3 hypothetical protein dJ473B4 LOC340581 Xq26.3 hypothetical protein LOC340581
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 11502 38.4 354 - 2008 17697127
    9 splicing 11471 36.2 334 - 2008 17697127
    also called isoform R
    8 - 11339 32.8 304 - 2008 17697127
    7 - 11303 31.6 292 - 2008 17697127
    9 - 11272 27.6 258 - 2008 17697127
    - - 11539 27.6 258 - 2008 1769712
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Lymphoid/Immunespleen   highly
     thymus   highly
    Reproductivefemale systemplacenta  highly
     male systemtestis  highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage
    Muscularmyoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text predominantly in placenta, embryonic kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • core regulatory regions for both activation and repression of splicing located within an 80-AA segment located downstream of the N-terminal zinc-finger pair
  • four CCCH zinc finger motifs (ZF1-4)
  • HOMOLOGY
    intraspecies paralog to MBNL1, MBNL2
    Homologene
    FAMILY
  • CCCH zinc finger protein family
  • muscleblind family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text co-localized with foci in DM1 and DM2 cells
    basic FUNCTION
  • may be an inhibitor of myogenesis
  • function in an opposing manner inhibiting expression of muscle differentiation markers
  • involved in the pathophysiology of myotonic dystrophy
  • functioning as an inhibitor of muscle differentiation and expressed in proliferating muscle precursor cells but not in differentiated skeletal muscle
  • having a functional role of CCCH zinc finger genes in the regulation of macrophage activation
  • may be playing a regulatory role in muscle differentiation under nonpathogenic conditions
  • MBNL1, MBNL2, MBNL3 plays important roles in muscle and eye development and in myotonic dystrophy (DM), in which expanded CUG or CCUG repeats functionally deplete MBNL proteins
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
  • MBNL1, MBNL2, MBNL3 bind to hundreds of pre- and mature mRNAs to regulate their alternative splicing, alternative polyadenylation, stability and subcellular localization
  • small molecule
    protein
  • interacting with MEF2A (regulates the splicing pattern of the muscle transcription factor myocyte enhancer factor 2 (MEF2A) by promoting exclusion of the alternatively spliced beta-exon)
  • MBNL1, MBNL2, MBNL3 are capable of fine-tuning cellular content of MBNL1, by binding to the first coding exon (e1) of its pre-mRNA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    elevating MBNL3 activity in myogenic cells could lead to muscle degeneration disorders such as myotonic dystrophy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS