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FLASH GENE

Symbol

PBX3

contributors: mct/npt - updated : 17-03-2010

HGNC name	pre-B-cell leukemia homeobox 3
HGNC id	8634

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	219.99 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006195 9 - 2911 NP_006186 - 434 - Monica (1991), Milech (2001) variant B - splicing 1190 isoform B - - - Milech (2001) lack exon 7 variant C - splicing 1190 isoform C - 277 ubiquitous Milech (2001) exon 1-2 and 4 to 9 interaction with MEIS1 not PREP1 variant D - splicing 950 isoform D - 194 ubiquitous Milech (2001) exon 1-2-4 to 6 and 9 interaction with MEIS1 not PREP1 NM_001134778 9 - 2825 NP_001128250 - 359 - Monica (1991)

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 Digestive liver         Nervous brain         Respiratory lung         Urinary kidney         Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone periosteum   predominantly

cells

System Cell Pubmed Species Stage Rna symbol Skeleton osteoblast

cell lineage	highly expressed in proliferating chondrocytes but is lost as chondrocytes become hypertrophic during endochondral ossification (Di Giacomo 2006)
cell lines
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	preferentially expressed in distinct cell populations in the developing striatum (Kaoru 2010)
	in the developing central nervous system (CNS), including a region of the medulla oblongata (Di Giacomo 2006)
	highly expressed in proliferating chondrocytes but is lost as chondrocytes become hypertrophic during endochondral ossification (Di Giacomo 2006)
	expressed only in the forelimb buds during early limb development (Di Giacomo 2006)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	helix-turn-helix, DNA binding domain
	an atypical homeo domain, three AA loop extension between helices

HOMOLOGY

interspecies

homolog to murine Pbx3

intraspecies

homolog to PBX1

Homologene

FAMILY

TALE/PBX homeobox family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transcriptional activator
	essential for respiration and, like its DNA-binding partner TLX3, is critical for proper development of medullary respiratory control mechanisms (Rhee 2004)
	in combination with FOXP2 and MEIS2, may play a pivotal role in the development of striosomal neurons of the striatum and the islands of Calleja (Takahashi 2008)
	critical for the function of hindbrain circuits controlling respiration in mammals, and may play in neural development and function (Rottkamp 2008)

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	PREP1
	MEIS1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   leads to PBX1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves (Stankunas 2008) constitutional       loss of function leads to the incorrect specification of some glutamatergic neurons in the dorsal horn and alters the integration of peripheral sensation into the spinal circuitry regulating locomotion (Rottkamp 2008)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Pbx3-deficient mice develop to term but die within a few hours of birth from central respiratory failure due to abnormal activity of inspiratory neurons in the medulla (Rhee 2004)