Pbx3 pre B cell leukemia homeobox 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pbx3provided by MGI
Official Full Name: pre B cell leukemia homeobox 3provided by MGI
Primary source: MGI:MGI:97496
See related: Ensembl:ENSMUSG00000038718 AllianceGenome:MGI:97496
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including adult locomotory behavior; nervous system development; and regulation of respiratory gaseous exchange by nervous system process. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; branchial arch; genitourinary system; nervous system; and sensory organ. Orthologous to human PBX3 (PBX homeobox 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in whole brain E14.5 (RPKM 32.9), CNS E14 (RPKM 31.9) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 22.84 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (34061469..34264168, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (34171457..34372045, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Low expression of miR-182 caused by DNA hypermethylation accelerates acute lymphocyte leukemia development by targeting PBX3 and BCL2: miR-182 promoter methylation is a predictive marker for hypomethylation agents + BCL2 inhibitor venetoclax.
Title: Low expression of miR-182 caused by DNA hypermethylation accelerates acute lymphocyte leukemia development by targeting PBX3 and BCL2: miR-182 promoter methylation is a predictive marker for hypomethylation agents + BCL2 inhibitor venetoclax.
results indicate Pbx genes act in parallel genetic pathways to orchestrate neuronal subtype differentiation, connectivity, and organization. I
Title: Parallel Pbx-Dependent Pathways Govern the Coalescence and Fate of Motor Columns.
Pbx3 contributes to Hoxa9 leukemogenesis through stabilization of the Meis1 protein.
Title: Pbx3 and Meis1 cooperate through multiple mechanisms to support Hox-induced murine leukemia.
Collectively, our data suggest that PBX3 is a critical cofactor of HOXA9 in leukemogenesis.
Title: PBX3 is an important cofactor of HOXA9 in leukemogenesis.
Data have demonstrated the presence of Meis, Pbx, and Prep proteins during early lineage segregation in mammals: Meis1, Meis3, Pbx1, Pbx2, Pbx3, and Prep1 in the mouse.
Title: Characterization of TALE genes expression during the first lineage segregation in mammalian embryos.
Reduction or absence of Pbx2 or Pbx3 leads to Pbx1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves.
Title: Pbx/Meis deficiencies demonstrate multigenetic origins of congenital heart disease.
Loss of Pbx3 function thus 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.
Title: Pbx3 is required for normal locomotion and dorsal horn development.
TALE proteins are critical downstream effectors within an essential homeoprotein network that serves a rate-limiting regulatory role in MLL leukemogenesis.
Title: Meis1 is an essential and rate-limiting regulator of MLL leukemia stem cell potential.
This protein was found to have elevated levels in limb buds after treatment with retinoic acid.
Title: PBX, MEIS, and IGF-I are potential mediators of retinoic acid-induced proximodistal limb reduction defects.
During early organogenesis Pbx3 expression is found mostly in the embryonic head, forelimbs, and septum transversum, conversely, later in organogenesis, Pbx3 expression becomes more widely detectable throughout the developing embryo.
Title: Spatio-temporal expression of Pbx3 during mouse organogenesis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:225028

G07093 (e-PCR)
- UniSTS:274

MHAa61d12.seq (e-PCR)
- UniSTS:125244

NoName (e-PCR)
- UniSTS:234373

NoName (e-PCR)
- UniSTS:234374

34.MMHAP8FRD10.seq (e-PCR)
- UniSTS:124116

RH126740 (e-PCR)
- UniSTS:207320

AU024573 (e-PCR)
- UniSTS:158953

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within dorsal spinal cord development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in eye development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of respiratory gaseous exchange by nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within respiratory gaseous exchange by respiratory system	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pre-B-cell leukemia transcription factor 3

Names: homeobox protein PBX3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001290576.2 → NP_001277505.1 pre-B-cell leukemia transcription factor 3 isoform PBX3b

See identical proteins and their annotated locations for NP_001277505.1

Status: VALIDATED

Description

Transcript Variant: This variant (b) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant a. The encoded isoform (PBX3b) has a distinct C-terminus and is shorter than isoform PBX3a.

Source sequence(s)

AL808102, AL845165, AL954347

Consensus CDS

CCDS71033.1

UniProtKB/Swiss-Prot

O35317

Related

ENSMUSP00000108757.3, ENSMUST00000113132.9

Conserved Domains (2) summary

cd00086
Location:236 → 296

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03792
Location:43 → 234

PBC; PBC domain
NM_001420519.1 → NP_001407448.1 pre-B-cell leukemia transcription factor 3 isoform c

Status: VALIDATED

Source sequence(s)

AL808102, AL845165, AL954347
NM_001420520.1 → NP_001407449.1 pre-B-cell leukemia transcription factor 3 isoform c

Status: VALIDATED

Source sequence(s)

AL808102, AL845165, AL954347
NM_001420521.1 → NP_001407450.1 pre-B-cell leukemia transcription factor 3 isoform d

Status: VALIDATED

Source sequence(s)

AL808102, AL845165, AL954347
NM_001420522.1 → NP_001407451.1 pre-B-cell leukemia transcription factor 3 isoform e

Status: VALIDATED

Source sequence(s)

AL808102, AL845165, AL954347
NM_016768.3 → NP_058048.1 pre-B-cell leukemia transcription factor 3 isoform PBX3a

See identical proteins and their annotated locations for NP_058048.1

Status: VALIDATED

Description

Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (PBX3a).

Source sequence(s)

AL808102, AL845165, AL954347

Consensus CDS

CCDS15947.1

UniProtKB/Swiss-Prot

O35317, Q925W2

Related

ENSMUSP00000045281.8, ENSMUST00000040638.15

Conserved Domains (2) summary

cd00086
Location:236 → 296

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03792
Location:43 → 234

PBC; PBC domain

RNA

NR_185189.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL808102, AL954347
NR_185190.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL808102, AL954347

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

34061469..34264168 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036159522.1 → XP_036015415.1 pre-B-cell leukemia transcription factor 3 isoform X3

Conserved Domains (2) summary

cd00086
Location:55 → 115

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03792
Location:1 → 53

PBC; PBC domain