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

Gene ID: 18514, updated on 18-Apr-2024

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
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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_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_02952 Neighboring gene retinoid X receptor gamma Neighboring gene LIM homeobox transcription factor 1 alpha Neighboring gene STARR-seq mESC enhancer starr_02953 Neighboring gene STARR-seq mESC enhancer starr_02954 Neighboring gene STARR-seq mESC enhancer starr_02955 Neighboring gene STARR-seq mESC enhancer starr_02957 Neighboring gene STARR-seq mESC enhancer starr_02958 Neighboring gene STARR-seq mESC enhancer starr_02965 Neighboring gene predicted gene, 51671 Neighboring gene predicted gene, 39696 Neighboring gene microRNA 6348

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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 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 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_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
 
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
 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
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 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
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 regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within 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 
acts_upstream_of_or_within 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 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
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
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

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)

  1. NM_001291508.1NP_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:234294
    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:40232
    PBC; PBC domain
  2. NM_001291509.1NP_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:40232
    PBC; PBC domain
    pfam05920
    Location:252282
    Homeobox_KN; Homeobox KN domain
  3. NM_008783.3NP_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:234294
    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:40232
    PBC; PBC domain
  4. NM_183355.3NP_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:234294
    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:40232
    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

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    167946933..168259898 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006496700.4XP_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:234294
    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:40232
    PBC; PBC domain
  2. XM_006496699.4XP_006496762.1  pre-B-cell leukemia transcription factor 1 isoform X1

    Conserved Domains (2) summary
    cd00086
    Location:234294
    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:40232
    PBC; PBC domain