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FLASH GENE

Symbol

DST

contributors: mct - updated : 24-04-2012

HGNC name	dystonin
HGNC id	1090

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EBS6 Epidermolysis bullosa simplex on chromosome 6
Location	6p12.1      Physical location : 56.322.786 - 56.507.694
Synonym name	hemidesmosomal plaque protein
	bullous pemphigoid antigen 1, 230/240kDa
	dystonin, neural isoforms of the hemidesmosomal protein bullous antigen 1 (BPAG1), homolog of mouse
	spectraplakin
Synonym symbol(s)	BPA, BP240, CATX-15, D6S1101, BPAG1, FLJ13425, FLJ32235, FLJ30627, CATX-15, DKFZp564B2416, KIAA0465, KIAA1470, MACF2

DNA

TYPE	functioning gene
STRUCTURE	496.64 kb     86 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	3' exons of the dystonin (see DMH) transcripts are identical to some of the 5' exons of the BPAG1 transcripts

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001723 24 splicing 9006 NP_001714 - 2649 - 2009 19403692 variant (1e) is required for efficient regulation of keratinocyte polarity and migration by determining the activation of RAC1 NM_015548 86 splicing 16652 NP_056363 590.9 5171 - 2002 11751855 isoform 1eA precursor two EF-hand calcium-binding domains,a SH3 domain and 29 spectrin repeats BPAG1eB (isoform 7) - splicing 9348 345 3062 - 2002 11751855 NM_183380 94 splicing 18048 NP_899236 - 5497 neural tissues and muscles 2002 11751855 isoform 1 (BPAG1n1) partial see DMH having an actin binding domain at the N-terminal NM_001144769 97 splicing 18103 NP_001138241 - 5675 neural tissues and muscles 2012 22190742 isoform 2 (BPAG1n2) see DMH having an actin binding domain at the N-terminal role for dystonin-a2 as a mediator of normal ER structure and function variant 4 - splicing - - 2704 - 2002 11751855 variant 5 - splicing - - 2950 - 2002 11751855 partial isoform 8 - splicing - - 2586 pancreas,epidermis 2002 11751855 partial isoform 9 - splicing - - 5138 - 2002 11751855 isoform 10 - splicing - - 1788 - 2002 11751855 NM_001144770 95 - 17774 NP_001138242 - 5537 - -

EXPRESSION

Type

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       highly Endocrine pancreas         Nervous ganglia sensory ganglia       Homo sapiens Reproductive male system prostate       Respiratory lung         Skin/Tegument skin         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	globular N terminus with an acting binding domain
	a central alpha helical coiled coil (rod) domain
	a C-terminal tail consisiting of characteristic repeat sequences
	eleven plectin repeats
	a SH3 domain
	four spectrin repeats
	binding sites for both F-actin via its calponin homology (CH) domains and MTs via its GAS2-related (GAR) domain and/or GSR repeats

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to murine dystonia musculorum gene (Dst)
	ortholog to murine cytoskeletal linker Bpag1
	homolog to C.elegans C50C3.2

Homologene

FAMILY	plakin protein family of adhesion junction plaque proteins
	cytolinker family

CATEGORY

adhesion , antigen

SUBCELLULAR LOCALIZATION	plasma membrane,junction,desmosome
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,cytoplasm,cytoskeleton,intermed filament
	intracellular,nuclear envelope
text	hemidesmosomes
	in sensory neurons localized in association with the ER and nuclear envelope (NE)

basic FUNCTION	acting as a cytoskeletal linker protein
	cytoskeletal interacting proteins play important roles in maintaining cytoarchitecture integrity in skin and in the neuromuscular system
	is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons
	large multidomain cytoskeletal-associated protein that plays an essential role in the nervous system

CELLULAR PROCESS	cell cycle
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	cytoskeleton organization and biogenesis, cell cycle arrest

PATHWAY

metabolism

signaling

a component	constituent of cutaneous basement membrane zone
	component of hemidesmosome plaque
	forming filaments or a two-dimensional meshwork by self-aggregation

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein	binding to keratin intermediate filaments, actin
	interacting with COL17A1 (may help to anchor elements of the rod photoreceptor cytomatrix to the extracellular matrix)
	MAP1B, a microtubule stabilizing protein, and CLTC, the major component of the clathrin triskelion, are interaction partners for DST

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBS6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function           -

Susceptibility

Variant & Polymorphism

Candidate gene	coding a glycoprotein that serves as an autoantigen in the blistering disease bullous pemphigoid
Marker
Therapy target

ANIMAL & CELL MODELS

	mice defective for this protein have sensory neurodegeneration
	protein level of BPAG1-b was reduced in muscle tissues from plectin-null mutant mice versus wild-type mice