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FLASH GENE

Symbol

PRRX1

contributors: mct - updated : 22-08-2012

HGNC name	paired related homeobox 1
HGNC id	9142

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_006902 5 splicing 4071 NP_008833 - 217 - 2003 23355395 five exons encoding the longest transcript but shortest isoform pmx-1a regulate migration, in pancreatic cancer cells NM_022716 4 splicing 3999 NP_073207 27 245 enriched in circulating pancreatic cells 2003 23355395 pmx-1b four exons, lacks a segment in the coding region, leading to the frameshift a distinct C-terminus compared to isoform pmx-1b having a repressor domain regulate invasion, in pancreatic cancer cells

EXPRESSION

Rna function	mRNA is expressed in activated hepatic stellate cells, but not in quiescent hepatic stellate cells
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 Hearing/Equilibrium ear inner cochlea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose white   highly Mus musculus Muscular smooth       Muscular striatum cardiac     Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Skeleton osteoblast Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one homeobox domain
	a regulatory otp, aristaless and rax (OAR) domain

HOMOLOGY

interspecies	homolog to murine Prrx1
	homolog to rattus Pmx1

Homologene

FAMILY	paired homeobox family
	aristaless-related homeobox genes family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transcription coactivator, enhancing the DNA-binding activity of serum response factor
	regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types
	required for pulmonary vascular development
	PRRX1, and PRRX2, encode transcription factors critical for orofacial development and are critical for mesenchymal-epithelial signaling during tooth morphogenesis
	PRRX1 and PRRX2 cooperatively regulate the morphogenesis of the medial region of the mandibular process
	have a critical role in limb bud formation and skeletal patterning
	obligate mediator of TNF inhibition of SP7 and differentiation of osteoblasts progenitors
	involvement of PRRX1 and PRRX2 in organogenesis of tissue originating from the ectoderm other than the mesoderm
	is an inhibitor of adipogenesis that may impact adipose tissue function in obesity
	restrains adipogenesis by regulating expression of TGFB1 ligands and thereby activating TGFB1 signaling
	impacts adipose tissue formation and function in the context of obesity and other metabolic diseases
	plays an important role as a key switch for neural cell lineage determination and the maintenance of the self-renewal of adult neural stem cells (NSCs) at several stages in the adult brain

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to an A/T-rich element in the muscle creatine enhancer

RNA

small molecule

protein

regulates TGFB1 ligand expression in preadipocytes and thereby modulates adipogenesis

cell & other

REGULATION

activated by

TNF (TNF may contribute to reduced bone formation in inflammatory arthritis, menopause, and aging)

inhibited by

HIV-1 Tat in immature dendritic cells

ASSOCIATED DISORDERS

corresponding disease(s)

AGOTC

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       NUP98-PRRX1, had potent ability to impair differentiation, promote proliferation of myeloid progenitors, induce lethal myeloproliferative disease and to activate a number of genes previously linked to leukemic stem cells constitutional     --over   may promote TGF&946; activity in adipose tissue and thereby contribute to aberrant adipocyte function during obesity

Susceptibility

Variant & Polymorphism

Candidate gene	potential candidate for the non syndromic deafness modifier locus; for brachydactyly type E in del 1q24q25
Marker	uncouples EMT and stemness, and is a biomarker associated with patient survival and lack of metastasis in cancer
Therapy target

ANIMAL & CELL MODELS

	loss of function mutation in the mouse Pmx1 gene
	Homozygous for the mutant allele died soon after birth and exhibited defects of skeletogenesis
	mice lacking Prrx1 die postnatally and have impaired formation of osteogenic and chondrogenic progenitors, resulting in defective skeletogenesis