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FLASH GENE

Symbol

DIAPH3

contributors: mct - updated : 05-11-2010

HGNC name	diaphanous homolog 3 (Drosophila)
HGNC id	15480

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AUNA1 auditory neuropathy 1
Location	13q21.2      Physical location : 60.239.724 - 60.738.119
Synonym symbol(s)	DRF3, RP11-26P21.1, DKFZp434C0931, DKFZp686A13178, FLJ34705, diap3, mDia2

DNA

TYPE	functioning gene
STRUCTURE	498.42 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001042517 28 - 4812 136.9 1193 - 2004 14767582 variant 1 - splicing - isoform 1 128 1112 lymph node, erythroid progenitor cells and pancreatic cancer 2004 14767582 exons 1-27 NM_030932 21 splicing 2745 98.1 849 testis 2004 14767582 exons 1b and 8-27

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 Digestive mouth tongue     highly Reproductive male system testis     predominantly Urinary bladder       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular         Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a coiled coil domain
	a DAD (DRF autoregulatory) domain
	three formin homology domains (FH1, FH2, FH3)
	a GBD (GTPase-binding) domain

HOMOLOGY

interspecies	ortholog to murine Diap3
	ortholog to Drosophila diaphanous

Homologene

FAMILY	formin homology family
	diaphanous subfamily

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
text	localizes in the lamella of migrating epithelial cells, where it is involved in the formation of a stable pool of cortical actin and in maintenance of polymerization-competent free filament barbed ends at focal adhesions
	accumulates in the cleavage furrow during anaphase to telophase, and concentrates in the midbody at the end of cytokinesis
	entirely cytosolic

basic FUNCTION	may be playing a role in the assembly of cortical actin necessary for maintaining plasma-membrane integrity
	plays an important role in formation of lamellipodia by nucleating and/or protecting from capping lamellipodial actin filaments, which subsequently exhibit high tendency to converge into filopodia
	essential in mammalian cell cytokinesis and DIAPH3-induced F-actin forms a scaffold for the contractile ring and maintains its position in the middle of a dividing cell
	wwith FMN1 can help F-actin form highly elastic networks and mediate the formation of highly elastic F-actin networks as effectively and rapidly as alpha-actinin and filamin
	tight control of its expression and ubiquitin-mediated degradation is essential for the completion of cell division
	DIAPH1, DIAPH2, DIAPH3 are implicated in mitosis and cytokinesis
	related formin protein, actin nucleation factor involved in maintenance of cell polarity and cell shape, intracellular transport, and vesicular trafficking
	DIAPH2, DIAPH3 might be involved in the initiation stage of filopodium formation and not the elongation stage or that they might play an indirect role

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AUNA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     3DeltaDAD (lacking the C-terminal regulatory region) induced the formation of unusual, lamellipodia-like structures, which contained both lamellipodial markers and the prominent filopodial protein fascin

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS