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FLASH GENE
Symbol UTRN contributors: mct - updated : 04-03-2016
HGNC name utrophin
HGNC id 12635
Location 6q24.2      Physical location : 144.612.872 - 145.174.168
Synonym name
  • utrophin (homologous to dystrophin)
  • dystrophin-related protein 1
  • Synonym symbol(s) DRP1, DYSR, DRP, DMDL, FLJ23678
    DNA
    TYPE functioning gene
    STRUCTURE 561.30 kb     74 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC340149 6q24.1 hypothetical LOC340149 LOC391976 6 similar to SUMO-1 activating enzyme subunit 2 NMBR 6q23 neuromedin B receptor C6orf55 6q24.1 chromosome 6 open reading frame 55 GPR126 6q23.1-q24.3 G protein-coupled receptor 126 HIVEP2 6q23-q24 human immunodeficiency virus type I enhancer binding protein 2 AIG1 6q24.1 androgen-induced 1 DEADC1 6q24.1 deaminase domain containing 1 LOC391977 6 similar to dJ20N2.2 (novel protein similar to tubulin, beta polypeptide 4, member Q (TUBB4Q)) PEX3 6q23-q24 peroxisomal biogenesis factor 3 FUCA2 6q25-qter fucosidase, alpha-L- 2, plasma C6orf56 6q24.1 chromosome 6 open reading frame 56 C6orf93 6q24.1 chromosome 6 open reading frame 93 LOC153918 6q24.1 similar to CGI-62 protein PLAGL1 6q25 pleiomorphic adenoma gene-like 1 SF3B5 6q24.1 splicing factor 3b, subunit 5, 10kDa MRPL42P3 6q24.2 splicing factor 3b, subunit 5, 10kDa STX11 6q23.1-q25.3 syntaxin 11 LOC285741 6q24.1 similar to Translationally controlled tumor protein (TCTP) (p23) (Histamine-releasing factor) (HRF) UTRN 6q24 utrophin (homologous to dystrophin) LOC391978 6 similar to ZNF131 protein EPM2A 6q24.3 epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) FBXO30 6q24 F-box protein 30 SHPRH 6q24.2 SNF2 histone linker PHD RING helicase GRM1 6q24 glutamate receptor, metabotropic 1 RAB32 6q24.3 RAB32, member RAS oncogene family LOC389431 6 similar to hypothetical protein 9130014G24 STXBP5 6q24.3 syntaxin binding protein 5 (tomosyn)
    RNA
    TRANSCRIPTS type messenger
    text
  • two isoforms Up71 and Up140
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    74 - 12436 395 3433 - 2007 17507653
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
     gangliasensory ganglia   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell Homo sapiens
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text heart, intestine, distributed throughout the sarcolemma of fetal and regenerating muscle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal region binding actin filament, and N-terminal CH1 domain less stable and undergoing severe protein aggregation
  • a large central region
  • three coiled-coil repeats
  • one WW domain
  • 20 spectrin repeats
  • a C terminal region interacting with components of the dystroglycan protein complex at the plasma membrane, and C-terminal CH2 domain binds to F-actin much weaker than the full-length tandem CH domain
  • the two calponin homology domains (CH1, CH2) related to alpha-actinin spectrin and fimbrin superfamily
  • HOMOLOGY
    intraspecies homolog to dystrophin
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus,nucleoplasm
    text
  • synapse-specific membrane cytoskeleton, myotendinous junction
  • is normally confined to the neuromuscular junction (NMJ) in adult muscle
  • basic FUNCTION
  • the clustering of acetylcholine receptors in cooperation with agrin
  • involved in association with rapsyn and in anchoring the cytoskeleton to the plasma membrane
  • syntrophin and UTRN associate with ADRA1D to create a functional signalosome, which is essential for ADRA1D regulation of vascular tone and blood pressure
  • close analogue of dystrophin
  • performs the same role in developing muscle as dystrophin in mature muscle
  • with DMD have distinct effects on the structural dynamics of actin
  • SSPN-dependent AKT1 activation is required for UTRN expression and muscle regeneration
  • DMD binds microtubules with high affinity and pauses microtubule polymerization, whereas utrophin has no activity in either assay
  • acts as a scaffolding protein that stabilizes lipid microdomains and clusters mechanosensitive (MS) channel subunits
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • SNTB2 forms a complex with UTRN in adipocytes, and UTRN-SNTB2 complex regulates lipid droplets (LDs) size without affecting adipogenesis
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with the dystroglycan complex
  • interacting with SYNM, an important IF protein in muscle cells that helps fortify the linkage between the peripheral layer of cellular myofibrils and the costameric regions located along the sarcolemma
  • SSPN directly interacts with the utrophin-glycoprotein complex (UGC) and functions to stabilize UTRN without increasing UTRN transcription
  • with dystrophin, bind to actin with similar affinities, and both stabilize actin filaments against depolymerization, but dystrophin and utrophin differ in their effects on the extent of lateral association with actin and in the ionic strength dependence of actin binding
  • plays potentially a central role in the regulation of SCN5A
  • UTRN and DMD interact with actin through their N-terminal actin-binding domain (N-ABD)
  • SSPN regulates AKT1 signaling to control UTRN expression
  • SSPN is a necessary component of DMD and UTRN function
  • NFATC1-mediated transcription regulates UTRN expression and FHL1 which promotes muscle hypertrophy, is a transcriptional activator of NFATC1
  • DMD and UTRN are highly similar proteins that both link cortical actin filaments with a complex of sarcolemmal glycoproteins, yet localize to different subcellular domains within normal muscle cells
  • SNTB2 controls signaling events by recruiting distinct membrane and cytoskeletal proteins, and binds to UTRN
  • cell & other
    REGULATION
    Other developmentally regulated: it is distributed throughout the sarcolemma of fetal and regenerating muscle but is down-regulated in normal adult muscle
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    inactivation mutations in 21/62 breast cancers
    tumoral     --other  
    expressed in B-chronic lymphocytic leukemia (B-CLL) cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate tumor suppressor gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    FHL1-NFATC1-UTRN signaling axis that can functionally compensate for dystrophin and treat DMD
    ANIMAL & CELL MODELS
  • mice lacking utrophin and dystrophin (mdx/utrn -/-) are severely affected and die prematurely