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FLASH GENE

Symbol

DTNA

contributors: mct - updated : 10-09-2013

HGNC name	dystrobrevin, alpha
HGNC id	3057

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001390 22 - 6358 NP_001381 83 743 skeletal muscle (neuromuscular function) 2011 20111909 also called variant 1 or DTN1 lacking 3 exons NM_032975 22 - 6537 NP_116757 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 NM_001391 17 - 4374 NP_001382 64 570 - 2011 20111909 also called variant 3 or DTN2 lacking 2 exons NM_032978 17 - 4579 NP_116760 64 567 skeletal muscle 2011 20111909 also called variant 4 or beta transcript lacking 2 exons NM_032979 17 - 4553 NP_116761 57 513 - 2011 20111909 also called variant 5 or gamma transcript lacking 4 exons found in association with actin and myosin light chain NM_032980 14 - 5689 NP_116762 44 391 - 2011 20111909 also called variant 6 or epsilon transcript lacking 3 exons NM_001392 13 - 1763 NP_001383 42 374 - 2011 20111909 also called variant 7 or delta transcript or DTN3 lacking the syntrophin binding domain NM_032981 8 - 3627 NP_116763 21 192 - 2011 20111909 also called variant 8 or zeta transcript lacking 3 exons NM_001128175 12 - 1728 NP_001121647 - 371 - 2011 20111909 also called variant 9 NM_001198945 11 - 3974 NP_001185874 - 320 - 2011 20111909 NM_001198939 22 - 6530 NP_001185868 - 890 - 2011 20111909 NM_001198940 21 - 6509 NP_001185869 - 683 - 2011 20111909 NM_001198938 20 - 3941 NP_001185867 - 724 - 2011 20111909 NM_001198941 15 - 4399 NP_001185870 - 510 - 2011 20111909 NM_001198942 16 - 5912 NP_001185871 - 452 - 2011 20111909 NM_001198944 14 - 5741 NP_001185873 - 395 - 2011 20111909 NM_001198943 15 - 5655 NP_001185872 - 433 - 2011 20111909

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       lowly Endocrine pancreas       lowly   thyroid       highly Nervous brain       highly Homo sapiens Reproductive female system breast mammary gland   highly Respiratory lung       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Nervous glia 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