U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Pitx3 paired-like homeodomain transcription factor 3 [ Mus musculus (house mouse) ]

    Gene ID: 18742, updated on 9-Dec-2024

    Summary

    Official Symbol
    Pitx3provided by MGI
    Official Full Name
    paired-like homeodomain transcription factor 3provided by MGI
    Primary source
    MGI:MGI:1100498
    See related
    Ensembl:ENSMUSG00000025229 AllianceGenome:MGI:1100498
    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
    Also known as
    ak; Ptx3; aphakia
    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 lens development in camera-type eye; nervous system development; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within locomotory behavior; neuron development; and regulation of gene expression. Located in nucleus. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and musculoskeletal system. Used to study Parkinson's disease and anterior segment dysgenesis. Human ortholog(s) of this gene implicated in anterior segment dysgenesis; anterior segment dysgenesis 1; cataract; cataract 11 multiple types; and cataract 9 multiple types. Orthologous to human PITX3 (paired like homeodomain 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in limb E14.5 (RPKM 3.9), mammary gland adult (RPKM 1.8) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Pitx3 in Genome Data Viewer
    Location:
    19 C3; 19 38.75 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (46123720..46136764, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (46135281..46148325, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1527 Neighboring gene STARR-positive B cell enhancer ABC_E7666 Neighboring gene peroxisome proliferative activated receptor, gamma, coactivator-related 1 Neighboring gene nucleolar and coiled-body phosphoprotein 1 Neighboring gene STARR-positive B cell enhancer ABC_E11034 Neighboring gene STARR-positive B cell enhancer ABC_E101 Neighboring gene ELOVL fatty acid elongase 3 Neighboring gene golgi-specific brefeldin A-resistance factor 1 Neighboring gene U1 small nuclear ribonucleoprotein C pseudogene Neighboring gene STARR-seq mESC enhancer starr_46298 Neighboring gene STARR-positive B cell enhancer ABC_E11035 Neighboring gene STARR-seq mESC enhancer starr_46300 Neighboring gene RIKEN cDNA 4833438C02 gene Neighboring gene STARR-positive B cell enhancer ABC_E9457 Neighboring gene nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100

    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

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to glial cell derived neurotrophic factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopaminergic neuron differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dopaminergic neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dopaminergic neuron differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lens fiber cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lens morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within midbrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in midbrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of gliogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gliogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of neurogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell proliferation in midbrain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell proliferation in midbrain ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression 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
     
    involved_in response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to immobilization stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to methamphetamine hydrochloride IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin ISO
    Inferred from Sequence Orthology
    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 

    General protein information

    Preferred Names
    pituitary homeobox 3
    Names
    homeobox protein PITX3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008852.4NP_032878.1  pituitary homeobox 3

      See identical proteins and their annotated locations for NP_032878.1

      Status: VALIDATED

      Source sequence(s)
      AC140233
      Consensus CDS
      CCDS29872.1
      UniProtKB/Swiss-Prot
      O35160, Q0VB03
      Related
      ENSMUSP00000026259.10, ENSMUST00000026259.16
      Conserved Domains (3) summary
      PTZ00395
      Location:142236
      PTZ00395; Sec24-related protein; Provisional
      pfam00046
      Location:66119
      Homeobox; Homeobox domain
      pfam03826
      Location:258275
      OAR; OAR 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_000085.7 Reference GRCm39 C57BL/6J

      Range
      46123720..46136764 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526764.4XP_006526827.1  pituitary homeobox 3 isoform X1

      Conserved Domains (3) summary
      PTZ00395
      Location:228322
      PTZ00395; Sec24-related protein; Provisional
      pfam00046
      Location:152205
      Homeobox; Homeobox domain
      pfam03826
      Location:344361
      OAR; OAR domain