Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

PDLIM7

contributors: mct - updated : 24-02-2015

HGNC name	PDZ and LIM domain 7 (enigma)
HGNC id	22958

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005451 13 - 1709 - 457 - 1999 10359609 NM_203352 13 - 1607 - 423 - 1999 10359609 PDLIM7 I3 - - 1726 - 153 - Liu NM_213636 - - 1005 - 222 - 1999 10359609

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         Mus musculus   vessel         Mus musculus Skin/Tegument skin         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular smooth vessel     Mus musculus Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	skeletal muscle during embryogenesis

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one N terminal PDZ (PSD95/disc large/Zo-1) domain
	a motif that interacts with COPS5 which targets a common SMAD, SMAD4, shared by both the BMP and TGFB1 pathways, for proteasomal degradation
	three C terminal LIM/double zinc finger motifs

HOMOLOGY

Homologene

FAMILY

UPF0140 (CGI-51) family

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus

basic FUNCTION	involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling
	putative adapter localizing LIM-binding proteins, via its PDZ domain,to actin filaments of both skeletal muscle and non muscle tissues
	essential positive regulator of osteoblast differentiation and maturation and bone formation
	potentially plays a role in odontoblast differentiation and dentin matrix mineralization of human teeth with normal and pathologic conditions
	has multiple functions including regulating mesenchymal stem cell (MSC) osteogenesis
	downstream gene of TGF-beta1, involved in periodontal ligament cell proliferation
	is involved in the premature calvarial ossification in sporadic craniosynostoses
	is a positive regulator of RET through blocking of CBLC-mediated ubiquitination and degradation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	beta tropomyosin,(skeletal/TPM2) through the PDZ domain of enigma
	actin filament
	interacts with SMURF1 (Smad ubiquitin regulatory factor 1) and prevents ubiquitination of Smads
	IGFBP6 binding partner
	interacting with IGFBP6 (increased promoter activity while IGFBP6 reduced promoter activity, and coexpression of PDLIM7 with IGFBP6 abrogated IGFBP6 suppression)
	directly interacts with MDM2 to form a ternary complex with TP53 in human hepatoma and colon carcinoma cell lines
	binding to COPS5 prevents the binding and subsequent degradation of SMAD4, SMAD5, and SMAD7 causing increased accumulation of osteogenic SMADs in cells
	CBLC interacting protein, and binding of PDLIM7 to RET prevents CBLC recruitment to RET

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in lung carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

inactivation of Pdlim7 does not disrupt cardiac development, but causes mild cardiac dysfunction in adult mice