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FLASH GENE

Symbol

PBX1

contributors: Shn - updated : 20-01-2020

HGNC name	pre-B-cell leukemia homeobox 1
HGNC id	8632

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Reproductive female system ovary     highly   female system breast mammary gland   highly Respiratory respiratory tract larynx     highly

cell lineage
cell lines	human bone-derived cells and murine MC3T3-E1 pre-osteoblasts
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	most tissues
	strongly associated with skeletal patterning during embryonic development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	helix-turn-helix
	DNA binding domain with an atypical homeo domain
	TALE (three AA loop extension between helices) subfamily

HOMOLOGY

interspecies	ortholog to Pbx1, Mus musculus
	ortholog to PBX1, Pan troglodytes
	ortholog to Pbx1, Rattus norvegicus

Homologene

FAMILY

TALE (three-amino acid loop extension) class of homeodomain transcription factors

CATEGORY

transcription factor , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
text	localized in the nucleus compartment

basic FUNCTION	converted into a potent transcriptional activator by the (1;19) translocation
	may be playing a role in steroidogenesis and sexual development
	in skeletal patterning and programming chondrocyte proliferation and differentiation
	play an important role in megakaryocytic gene expression
	direct Notch3-regulated gene that mediates the survival signal of Notch3 in ovarian cancer
	specifically required for the maintenance of bone marrow transformation mediated by MECOM
	involved in MECOM-mediated leukemogenesis
	associated with bone mineral density variation
	up-regulating SOX3 gene expression with MEIS1
	essential role in corneal morphogenesis
	plays a central role in attenuating the ability of HOXA10 to activate osteoblast-related genes in order to establish temporal regulation of gene expression during osteogenesis
	has a role in attenuating osteogenesis by repressing osteoblast gene expression at several stages
	involvement of PBX1, MEIS1, PKNOX1 during the early development in mammals
	regulates the lineage-specific output of multipotent and oligopotent progenitors
	role for PBX1 in restraining myeloid maturation while maintaining lymphoid potential to appropriately regulate progenitor reservoirs
	novel roles for PBX1 and its transcriptional network in midbrain dopaminergic neurons (mDAn) development and Parkinson disease (PD)
	PKNOX1 and PBX1 are homeodomain (HD) transcription factors that play crucial roles in embryonic development
	displays oncogenic activity in several different types of cells,

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding (atypical homeodomain)
	binding cooperatively with the heterodimer E2A/myogenic transcription factors

RNA

small molecule

protein	homeobox A5, HOXA5
	Pbx regulating protein-1, PREP1 (Berthelsen et al, 1998)
	homeobox B1, HOXB1
	Meis homeobox 1, MEIS1; homeobox D9, HOXD9
	regulates the activity of insulin promoter factor 1, Ipf1
	homeobox B8, HOXB8
	essential for normal pancreatic development and function
	glucocorticoid receptor, GR
	interaction with HOXA10 (acting to reduce HOXA10-mediated transcriptional activation at bone-specific promoters)
	PBX1 was found to bind directly to the EPHA7 promoter in the developing cortex
	PKNOX1 posttranslationally controls the level of MEIS1, decreasing its stability by sequestering PBX1
	PBX1, a homeodomain transcription factor, is required in the lung mesenchyme for the expression of FGF10
	PBX1 directly binds to the FGF10 promoter and cooperates with MEIS and HOX proteins to transcriptionally activate FGF10
	PBX1 plays a central role in regulating the ESR1 transcriptional response to epidermal growth factor (EGF) signaling
	PTBP1 controls the activity of PBX1 to suppress its neuronal transcriptional program prior to induction of neuronal progenitor cells (NPC) development
	PBX1 regulates adult neural cell fate determination in a manner beyond that of its heterodimerization partner MEIS2
	USP9X is a deubiquitinase of PBX1
	MN1 participates in transcriptional regulation of target genes through interaction with the transcription factors PBX1, PKNOX1, and ZBTB24

cell & other

REGULATION

induced by

MECOM

repressed by

during osteoblast maturation

ASSOCIATED DISORDERS

corresponding disease(s)

CAKUTHED

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with TCF3 t(1;19) (q23;p13.3)in acute lymphoid leukemia tumoral fusion       with EWSR1 in (1;22)(q23;q12) in myoepithelioma tumoral         silencing decreased the expression of RUNX2 and OSTERIX, the critical transcription factors for osteogenesis, but accelerated cell proliferation and bone nodule formation constitutional       loss of function results in persistent truncus arteriosus tumoral   amplification     in ESR1-positive breast cancer patients are characterized by poor survival

Susceptibility

to bone mineral density variation

Variant & Polymorphism

Candidate gene	promising candidate gene for non-syndromic cleft lip/palate
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate targeting the USP9X/PBX1 axis could be a potential therapeutic strategy for managing advanced prostate cancer

ANIMAL & CELL MODELS

	Pbx1-deficient mice die at embryonic day 15/16 with severe hypoplasia or aplasia of multiple organs and widespread patterning defects of the axial and appendicular skeleton
	Pbx-dependent EMT programs mediate murine upper lip/primary palate morphogenesis and fusion via regulation of Snail1
	Pbx1-/- mouse embryos have pancreatic hypoplasia and marked defects in exocrine and endocrine cell differentiation prior to death at embryonic day (E) 15 or E16
	Pbx1+/- adult mice have pancreatic islet malformations, impaired glucose tolerance and hypoinsulinemia
	Silencing of PBX1 by RNAi in MC3T3-E1 cells decreased the expression of Runx2 and Osterix, the critical transcription factors for osteogenesis, but accelerated cell proliferation and bone nodule formation
	tissue-specific deletion of Pbx1 in mice corneal epithelium results in corneal dystrophy