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
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
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
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
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