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FLASH GENE

Symbol

PDLIM5

contributors: mct - updated : 28-06-2016

HGNC name	PDZ and LIM domain 5
HGNC id	17468

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

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 Respiratory respiratory tract larynx     highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 100-amino acid PDZ domain in the N terminus
	3 LIM domains in the C terminus, which bind to the helix-loop-helix domain of ID proteins

HOMOLOGY

Homologene

FAMILY

ENIGMA protein family

CATEGORY

protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	involved in cytoskeleton organization, cell lineage specification, organ development, and oncogenesis
	actin-associated protein acting as a cytoplasmic retention factor for ID2
	contributing to differentiation of the nervous system through cytoplasmic sequestration of ID2 and acting as a restraining factor of the oncogenic activity of ID proteins in neural tumors
	plays an important role in linking protein kinase C with calcium channel
	acts as a scaffold to tether various functional proteins at subcellular sites via PDZ and three LIM domains
	LDB3 and PDLIM5 redundantly play an essential role in sustaining Z-line structure from the earliest stages of cardiac function, and are redundantly required to maintain normal embryonic heart function and embryonic viability

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting specifically with protein kinase C-epsilon (PRKCE) and the C terminus of the N-type calcium channel alpha-1B subunit (CACNA1B) to form a macromolecular complex
	interacting with ID proteins
	PDLIM5 could selectively recruit PRKCE to its specific substrate in neurons

cell & other

REGULATION

Phosphorylated by

PRKAA1 and its phosphorylation on Ser177 by PRKAA1 mediates inhibition of cell migration by suppressing the RAC1-Arp2/3 signalling pathway

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   during neural differentiation

Susceptibility

to bipolar disorder, and schizophrenia

Variant & Polymorphism SNP	nonsynonymous rs7690296 polymorphism could play an important role in the pathophysiology of both bipolar disorder and schizophrenia

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS