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FLASH GENE

Symbol

PDLIM3

contributors: mct - updated : 22-10-2011

HGNC name	PDZ and LIM domain 3
HGNC id	20767

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	4q35.1      Physical location : 186.421.816 - 186.456.712
Synonym name	alpha-actinin-2-associated LIM protein
	enigma homolog
	atinin-associated LIM protein
Synonym symbol(s)	ALP, ACTNBLIM

DNA

TYPE	functioning gene
STRUCTURE	34.90 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	PDLIM3 splicing was regulated during development and in a tissue-specific manner, regulated in a muscle-specific manner (PMID: 21549096)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014476 6 splicing 2853 - 364 predominantly detected after birth, in muscle (heart and skeletal muscles), predominantly 2011 21549096 PDLIM3a exons 5 and 6 inclusion and exon 4 exclusion predominate in non-DM1 muscles NM_001114107 4 splicing 2709 - 316 fetal skeletal muscle isoform, adult brain, and liver 2011 21549096 PDLIM3b splicing is abnormal in patients with DM1 (isoform increased in DM1 muscles) exon 4 inclusion and exons 5 and 6 exclusion it is possible that the PDLIM3b proteins are unable to bind sufficiently to ACTN2, resulting in the symptoms of DM1 muscle PDLIM3c 4 splicing - - 276 predominantly detected after birth, in muscle (heart and skeletal muscles), predominantly 2011 21549096 predominate in non-DM1 muscles exon 5 inclusion and exons 4 and 6 exclusion

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 Homo sapiens Digestive liver       highly   stomach         Lymphoid/Immune spleen         Reproductive male system testis     lowly Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   predominantly Homo sapiens Muscular striatum cardiac   predominantly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one LIM zinc-binding domain
	one PDZ/DHR domain
	a ZASP-like motif, between PDZ and LIM domains, required for the interaction of PDLIM3 internal region with the alpha-actinin rod and for targeting to the Z-line

HOMOLOGY

interspecies	ortholog to rattus pdlim3
	ortholog to murine Pdlim3

Homologene

FAMILY

ALP subfamily of PDZ-LIM proteins

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	may be acting as an adapter that brings other proteins to the cytoskeleton
	critical role on muscle differentiation, likely via cytoskeletal regulation of SRF

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein

binds ACTN2 in the Z-discs of muscle, and the ZASP-like motif is needed for this interaction

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in gastric cancer constitutional germinal mutation       abnormal PDLIM3 splicing affects the heart more than the skeletal muscles in patients with DM1

Susceptibility

to dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

PDLIM3-/- mice develop cardiomyopathy that resembles human arrhythmogenic right ventricular cardiomyopathy (ARVD/C) with mild left ventricular involvement