Pbx1 pre B cell leukemia homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pbx1provided by MGI
Official Full Name: pre B cell leukemia homeobox 1provided by MGI
Primary source: MGI:MGI:97495
See related: Ensembl:ENSMUSG00000052534 AllianceGenome:MGI:97495
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pbx-1; 2310056B04Rik; D230003C07Rik
Summary: This gene encodes a homeobox protein that belongs to the three-amino-acid loop extension/Pre-B cell leukemia transcription factor (TALE/PBX) family of proteins. The encoded protein is involved in several biological processes during embryogenesis including steroidogenesis, sexual development and the maintenance of hematopoietic stem cells. This protein functions in the development of several organ systems and plays a role in skeletal patterning and programming. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Expression: Broad expression in whole brain E14.5 (RPKM 20.5), frontal lobe adult (RPKM 20.5) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H2.3; 1 75.95 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (167946933..168259898, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (168119364..168432365, complement)

Chromosome 1 - NC_000067.7 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
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?

Loss of PBX1 function in Leydig cells causes testicular dysgenesis and male sterility.
Title: Loss of PBX1 function in Leydig cells causes testicular dysgenesis and male sterility.
Lupus susceptibility gene Pbx1 controls the development, stability, and function of regulatory T cells via Rtkn2 expression.
Title: Lupus susceptibility gene Pbx1 controls the development, stability, and function of regulatory T cells via Rtkn2 expression.
Regulation of the STAT3 pathway by lupus susceptibility gene Pbx1 in T cells.
Title: Regulation of the STAT3 pathway by lupus susceptibility gene Pbx1 in T cells.
Involvement of Transcriptional Factor Pbx1 in Peripheral B Cell Homeostasis to Constrain Lupus Autoimmunity.
Title: Involvement of Transcriptional Factor Pbx1 in Peripheral B Cell Homeostasis to Constrain Lupus Autoimmunity.
A spatio-temporally constrained gene regulatory network directed by PBX1/2 acquires limb patterning specificity via HAND2.
Title: A spatio-temporally constrained gene regulatory network directed by PBX1/2 acquires limb patterning specificity via HAND2.
Overexpression of lipocalin 2 in PBX1-deficient decidual NK cells promotes inflammation at the maternal-fetal interface.
Title: Overexpression of lipocalin 2 in PBX1-deficient decidual NK cells promotes inflammation at the maternal-fetal interface.
PBX1-directed stem cell transcriptional program drives tumor progression in myeloproliferative neoplasm.
Title: PBX1-directed stem cell transcriptional program drives tumor progression in myeloproliferative neoplasm.
Transcriptional cooperation of PBX1 and PAX6 in adult neural progenitor cells.
Title: Transcriptional cooperation of PBX1 and PAX6 in adult neural progenitor cells.
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Title: Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
T cells expressing the lupus susceptibility allele Pbx1d enhance autoimmunity and atherosclerosis in dyslipidemic mice.
Title: T cells expressing the lupus susceptibility allele Pbx1d enhance autoimmunity and atherosclerosis in dyslipidemic mice.

Submit: New GeneRIF Correction See all GeneRIFs (65)

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Targeted (8) 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:234263

AU048745 (e-PCR)
- UniSTS:145195

AI848790 (e-PCR)
- UniSTS:178501

09.MMHAP76FLC3.seq (e-PCR)
- UniSTS:122993

AU015730 (e-PCR)
- UniSTS:207244

Pbx1 (e-PCR), detects polymorphism
- UniSTS:528306

G49227 (e-PCR)
- UniSTS:108983

D1Mit15 (e-PCR), detects polymorphism
- UniSTS:116696

AL033591 (e-PCR)
- UniSTS:93438

AI593012 (e-PCR)
- UniSTS:165118

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription coregulator binding	ISO Inferred from Sequence Orthology more info
enables transcription corepressor binding	IEA Inferred from Electronic Annotation more info
enables transcription corepressor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of G2/M transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adrenal gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within branching involved in ureteric bud morphogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic organ development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within embryonic organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye development	IBA Inferred from Biological aspect of Ancestor more info
involved_in natural killer cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of G2/M transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay 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 proximal/distal pattern formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within proximal/distal pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sex differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spleen development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within spleen development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within thymus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within urogenital system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IEA Inferred from Electronic Annotation more info
part_of RNA polymerase II transcription regulator complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
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 1

Names: homeobox protein PBX1

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_001291508.1 → NP_001278437.1 pre-B-cell leukemia transcription factor 1 isoform b

See identical proteins and their annotated locations for NP_001278437.1

Status: REVIEWED

Description

Transcript Variant: This variant (c) lacks an alternate exon in the 3' coding region resulting in a frameshift compared to variant a. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a. Variants b and c encode the same isoform.

Source sequence(s)

AC093320, AC096625, AC116129

Consensus CDS

CCDS15462.1

UniProtKB/TrEMBL

Q71VB4

Related

ENSMUSP00000134925.2, ENSMUST00000176790.8

Conserved Domains (2) summary

cd00086
Location:234 → 294

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:40 → 232

PBC; PBC domain
NM_001291509.1 → NP_001278438.1 pre-B-cell leukemia transcription factor 1 isoform d

See identical proteins and their annotated locations for NP_001278438.1

Status: REVIEWED

Description

Transcript Variant: This variant (d) lacks two alternate in-frame exons in the 3' coding region compared to variant a. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AC096625, AC116129, AK083616, AK144346

Consensus CDS

CCDS78739.1

UniProtKB/TrEMBL

D9J2V6

Related

ENSMUSP00000066385.5, ENSMUST00000064438.11

Conserved Domains (2) summary

pfam03792
Location:40 → 232

PBC; PBC domain

pfam05920
Location:252 → 282

Homeobox_KN; Homeobox KN domain
NM_008783.3 → NP_032809.1 pre-B-cell leukemia transcription factor 1 isoform b

See identical proteins and their annotated locations for NP_032809.1

Status: REVIEWED

Description

Transcript Variant: This variant (b) has a different 3' structure and lacks an alternate exon in the 3' coding region resulting in a frameshift compared to variant a. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a. Variants b and c encode the same isoform.

Source sequence(s)

AK144346, BC054376

Consensus CDS

CCDS15462.1

UniProtKB/TrEMBL

Q71VB4

Related

ENSMUSP00000140606.2, ENSMUST00000188912.7

Conserved Domains (2) summary

cd00086
Location:234 → 294

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:40 → 232

PBC; PBC domain
NM_183355.3 → NP_899198.1 pre-B-cell leukemia transcription factor 1 isoform a

See identical proteins and their annotated locations for NP_899198.1

Status: REVIEWED

Description

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

Source sequence(s)

AC116129, AK083616, AK144346, BC058390

Consensus CDS

CCDS15461.1

UniProtKB/Swiss-Prot

P41778

Related

ENSMUSP00000135516.2, ENSMUST00000176540.8

Conserved Domains (2) summary

cd00086
Location:234 → 294

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:40 → 232

PBC; PBC domain

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_000067.7 Reference GRCm39 C57BL/6J

Range

167946933..168259898 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006496700.4 → XP_006496763.1 pre-B-cell leukemia transcription factor 1 isoform X2

See identical proteins and their annotated locations for XP_006496763.1

Conserved Domains (2) summary

cd00086
Location:234 → 294

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:40 → 232

PBC; PBC domain
XM_006496699.4 → XP_006496762.1 pre-B-cell leukemia transcription factor 1 isoform X1

Conserved Domains (2) summary

cd00086
Location:234 → 294

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:40 → 232

PBC; PBC domain