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FLASH GENE
Symbol DTNA contributors: mct - updated : 10-09-2013
HGNC name dystrobrevin, alpha
HGNC id 3057
Corresponding disease
BTHS2 noncompaction of left ventricular myocardium with congenital heart defects
LVNC noncompaction of left ventricular myocardium, familial isolated
Location 18q12.1      Physical location : 32.073.253 - 32.471.808
Synonym name dystrophin related protein 3
Synonym symbol(s) DBVA, DRP3, DTN, D18S892E, DTN-1, DTN-2, DTN-3, FLJ96209
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 398.56 kb     22 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
KIAA1012 18q11.2 solute carrier family 39 (zinc transporter), member 6 LOC342705 18q12.1 similar to 6-phosphogluconate dehydrogenase, decarboxylating LOC390847 18 similar to epsin 2 isoform a; Eps15 binding protein RNF125 18q12.1 ring finger protein 125 LOC390848 18 similar to 40S ribosomal protein S15a RNF138 18q12.1 ring finger protein 138 MEP1B 18q12.2-q12.3 meprin A, beta FLJ21610 KIAA1384 18q12.1 KIAA1384 protein LOC374864 18q12.1 hypothetical protein LOC374864 LOC147354 18q12.1 similar to additional sex combs like 2; polycomb group protein ASXH2 KIAA1713 18q11 KIAA1713 protein NOL4 18q12 nucleolar protein 4 DTNA 18q12.1-q12.2 dystrobrevin, alpha LOC390849 18 similar to ribosomal protein L10a MAPRE2 18q12 microtubule-associated protein, RP/EB family, member 2 ZNF397 18q12.1 zinc finger protein 397 ZNF271 18q12 zinc finger protein 271 ZNF24 18q12 zinc finger protein 24 (KOX 17) ZNF396 18p12 zinc finger protein 396 LOC125476 18q12.2 hypothetical protein LOC125476 GALNT1 18q12.1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) LOC388473 18 LOC388473 PNAS-131 18q12.2 hypothetical protein PNAS-131 P15RS 18q12.2 hypothetical protein FLJ10656 SLC39A6 18q12.2 solute carrier family 39 (zinc transporter), member 6 STATIP1 18q12.1 signal transducer and activator of transcription 3 interacting protein 1 MOCOS 18q12 molybdenum cofactor sulfurase RNU4P3 18q12.2 RNA, U4 small nuclear pseudogene 3 LOC390850 18 similar to RIKEN cDNA 0610008N23 KIAA1695 DKFZP586M1523 KIAA1328 18q12.2 KIAA1328 protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 6358 83 743 skeletal muscle (neuromuscular function) 2011 20111909
  • also called variant 1 or DTN1
  • lacking 3 exons
  • 22 - 6537 77 686 not in cardiac muscleskeletal muscle (neuromuscular function) 2011 20111909
  • also called variant 2 or alpha transcript
  • lacking 5 exons and the syntrophin binding region
  • 17 - 4374 64 570 - 2011 20111909
  • also called variant 3 or DTN2
  • lacking 2 exons
  • 17 - 4579 64 567 skeletal muscle 2011 20111909
  • also called variant 4 or beta transcript
  • lacking 2 exons
  • 17 - 4553 57 513 - 2011 20111909
  • also called variant 5 or gamma transcript
  • lacking 4 exons
  • found in association with actin and myosin light chain
  • 14 - 5689 44 391 - 2011 20111909
  • also called variant 6 or epsilon transcript
  • lacking 3 exons
  • 13 - 1763 42 374 - 2011 20111909
  • also called variant 7 or delta transcript or DTN3
  • lacking the syntrophin binding domain
  • 8 - 3627 21 192 - 2011 20111909
  • also called variant 8 or zeta transcript
  • lacking 3 exons
  • 12 - 1728 - 371 - 2011 20111909
    also called variant 9
    11 - 3974 - 320 - 2011 20111909
    22 - 6530 - 890 - 2011 20111909
    21 - 6509 - 683 - 2011 20111909
    20 - 3941 - 724 - 2011 20111909
    15 - 4399 - 510 - 2011 20111909
    16 - 5912 - 452 - 2011 20111909
    14 - 5741 - 395 - 2011 20111909
    15 - 5655 - 433 - 2011 20111909
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   lowly
    Endocrinepancreas   lowly
     thyroid   highly
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systembreastmammary gland highly
    Respiratorylung   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte
    Nervousglia Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • zinc binding domain
  • CREB binding domain
  • coiled coil domain
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to the Torpedo Californica post-synaptic 87kDa phosphoprotein
    intraspecies homolog to dystrophin,to DTNB
    Homologene
    FAMILY
  • dystrophin family
  • dystrobrevin subfamily
  • CATEGORY motor/contractile , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • sarcolemma
  • specifically associated with the tight junctions during their reorganization
  • basic FUNCTION
  • maintenance of muscles integrity during the mechanical stresses of contraction and relaxation
  • involved in the formation and stability of the synapses
  • may be involved in signal transduction in myeloid cells during induction of granulocytic differentiation at the commitment stage of the phagocytic cells. required for anchorage of the syntrophin-dystrobrevin subcomplex and suggest that expression of the syntrophin-dystrobrevin complex may be independently regulated through neuromuscular transmission
  • possibility that effects on DTNA splicing may influence signaling in DM1 muscle cells
  • plays a role in a structure or regulation mechanism unique to melanin-concentrating hormone-expressing neurons
  • protein contributing to dystrophin-associated protein scaffolds in astrocytic endfeet, essential for the formation and functioning of blood-brain barrier
  • central organizer of dystrophin-associated protein in glial endfeet and a rare example of a glial protein with a role in maintaining blood-brain barrier
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS locomotion
    text muscle action
    PATHWAY
    metabolism
    signaling neurotransmission , signal transduction
    a component
  • component of the dystrophin glycoprotein complex with dystrophin, syntrophins and DTNBP1 (expression of the syntrophin-dystrobrevin complex may be independently regulated through neuromuscular transmission)
  • interacting directly by its N terminus to sarcoglycan-sarcospan complex and so linking SGC-SNP complex to NOS via SNTA1 (alpha syntrophin)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to dystrophin, utrophin, syntrophin, dysbindin (in the brain)
  • bind directly to dystrophin and are components of a transmembrane dystrophin-glycoprotein complex (DGC) that links the cytoskeleton to extracellular proteins in many tissues
  • recruits alpha-catulin (CTNNAL1) to the ADRA1D/dystrophin-associated protein complex signalosome
  • NRG/ERBB signaling maintains high efficacy of synaptic transmission by stabilizing the postsynaptic apparatus via phosphorylation of DTNA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BTHS2 , LVNC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • synaptic and behavioral abnormalities are minimal in mice lacking either Dtna or Dtnb