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Pax4 paired box 4 [ Mus musculus (house mouse) ]

Gene ID: 18506, updated on 2-Nov-2024

Summary

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Official Symbol
Pax4provided by MGI
Official Full Name
paired box 4provided by MGI
Primary source
MGI:MGI:97488
See related
Ensembl:ENSMUSG00000029706 AllianceGenome:MGI:97488
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
Pax-4
Summary
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within positive regulation of epithelial cell differentiation. Predicted to be located in nucleus. Predicted to be part of transcription regulator complex. Is expressed in several structures, including central nervous system; dorsal root ganglion; gut; and urinary system. Human ortholog(s) of this gene implicated in diabetic ketoacidosis; maturity-onset diabetes of the young type 9; type 1 diabetes mellitus; and type 2 diabetes mellitus. Orthologous to human PAX4 (paired box 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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See Pax4 in Genome Data Viewer
Location:
6 A3.3; 6 11.99 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (28442333..28449339, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (28442334..28449340, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene Pax4 5' regulatory region Neighboring gene golgi coiled coil 1 Neighboring gene fascin actin-bundling protein 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:28430124-28430311 Neighboring gene ADP-ribosylation factor 5 Neighboring gene staphylococcal nuclease and tudor domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_15418 Neighboring gene leucine rich repeat containing 4 Neighboring gene STARR-seq mESC enhancer starr_15424 Neighboring gene predicted gene, 53277

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Proteasome gene expression is controlled by coordinated functions of multiple transcription factors. Gilda JE, et al. J Cell Biol, 2024 Aug 5. PMID 38767572,
  2. Adult duct-lining cells can reprogram into β-like cells able to counter repeated cycles of toxin-induced diabetes. Al-Hasani K, et al. Dev Cell, 2013 Jul 15. PMID 23810513
  3. Pax4 Expression does not Transduce Pancreatic Alpha Cells to Beta Cells. Chen L, et al. Cell Physiol Biochem, 2015. PMID 26183751
  4. Generation of animals allowing the conditional inactivation of the Pax4 gene. Kordowich S, et al. Transgenic Res, 2012 Dec. PMID 22717987, Free PMC Article
  5. PAX4 preserves endoplasmic reticulum integrity preventing beta cell degeneration in a mouse model of type 1 diabetes mellitus. Mellado-Gil JM, et al. Diabetologia, 2016 Apr. PMID 26813254, Free PMC Article

See all (108) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Proteasome gene expression is controlled by coordinated functions of multiple transcription factors.
    Title: Proteasome gene expression is controlled by coordinated functions of multiple transcription factors.
  2. Conversion of Gastrointestinal Somatostatin-Expressing D Cells Into Insulin-Producing Beta-Like Cells Upon Pax4 Misexpression.
    Title: Conversion of Gastrointestinal Somatostatin-Expressing D Cells Into Insulin-Producing Beta-Like Cells Upon Pax4 Misexpression.
  3. Down-regulation of PAX4 or its target gene encoding the p97/VCP ATPase reduced myofibril disassembly.
    Title: Myofibril breakdown during atrophy is a delayed response requiring the transcription factor PAX4 and desmin depolymerization.
  4. Ectopic expression of Pax4 in pancreatic delta cells results in beta-like cell neogenesis.
    Title: Ectopic expression of Pax4 in pancreatic δ cells results in β-like cell neogenesis.
  5. The coordinated regulation of distinct cellular pathways particularly related to ER homeostasis by PAX4 not achieved by the mutant variant PAX4R129W alleviates beta cell degeneration and protects against diabetes mellitus.
    Title: PAX4 preserves endoplasmic reticulum integrity preventing beta cell degeneration in a mouse model of type 1 diabetes mellitus.
  6. This work establishes the existence of a bona fide PAX4-enriched cell subpopulation nested within pancreatic islets that can expand in periods of increased functional demands, and exhibit improved viability in response to pathophysiological situations.
    Title: PAX4 Defines an Expandable β-Cell Subpopulation in the Adult Pancreatic Islet.
  7. Pax4 expression is not sufficient to transduce pancreatic alpha cells into beta cells. Overexpression of Pax4 in alpha cells may not increase functional beta cell number in diabetic patients
    Title: Pax4 Expression does not Transduce Pancreatic Alpha Cells to Beta Cells.
  8. Adult glucagon producing cells can be converted into beta-like cells upon Pax4 misexpression.
    Title: Adult duct-lining cells can reprogram into β-like cells able to counter repeated cycles of toxin-induced diabetes.
  9. RBM4 promoted insulin gene expression by altering the isoform balance of the transcription factors Isl1 and Pax4 via alternative splicing control.
    Title: RBM4 promotes pancreas cell differentiation and insulin expression.
  10. these finding demonstrate that, downstream of Neurog3, the specification of a subset of enteroendocrine subtypes relies on both Arx and Pax4, while others depend only on Arx or Pax4.
    Title: The homeodomain-containing transcription factors Arx and Pax4 control enteroendocrine subtype specification in mice.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 
  • Targeted (5)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
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 double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables sequence-specific double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within animal organ morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in brain development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in circadian rhythm IEA
Inferred from Electronic Annotation
more info
  
involved_in forebrain development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within positive regulation of epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within regulation of cell differentiation 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 cAMP IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in retina development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
involved_in sensory organ development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in type B pancreatic cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of type B pancreatic cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
part_of transcription regulator complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
paired box protein Pax-4
Names
paired box gene 4

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_001159925.1 → NP_001153397.1  paired box protein Pax-4 isoform 2

    See identical proteins and their annotated locations for NP_001153397.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AF031150, AF145233, BC145168
    Consensus CDS
    CCDS51732.1
    UniProtKB/TrEMBL
    G3UZE8
    Related
    ENSMUSP00000131301.2, ENSMUST00000164519.9
    Conserved Domains (2) summary
    smart00351
    Location:5 → 129
    PAX; Paired Box domain
    pfam00046
    Location:174 → 226
    Homeobox; Homeobox domain

  2. NM_001159926.1 → NP_001153398.1  paired box protein Pax-4 isoform 3

    See identical proteins and their annotated locations for NP_001153398.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses alternate in-frame splice sites in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AF031150, AF145233, BC145169
    Consensus CDS
    CCDS51731.1
    UniProtKB/TrEMBL
    B7ZNC8, G3UZE8
    Related
    ENSMUSP00000126000.2, ENSMUST00000171089.9
    Conserved Domains (2) summary
    smart00351
    Location:5 → 129
    PAX; Paired Box domain
    pfam00046
    Location:174 → 226
    Homeobox; Homeobox domain

  3. NM_011038.2 → NP_035168.1  paired box protein Pax-4 isoform 1

    See identical proteins and their annotated locations for NP_035168.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF031150, AF145233
    Consensus CDS
    CCDS39447.1
    UniProtKB/Swiss-Prot
    B7ZNC7, P32115, P97341, Q9QUR1, Q9R091
    UniProtKB/TrEMBL
    A2RRY5, G3UZE8
    Related
    ENSMUSP00000031718.8, ENSMUST00000031718.14
    Conserved Domains (2) summary
    smart00351
    Location:5 → 129
    PAX; Paired Box domain
    pfam00046
    Location:174 → 226
    Homeobox; Homeobox 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_000072.7 Reference GRCm39 C57BL/6J

    Range
    28442333..28449339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P32115.2 GenPept UniProtKB/Swiss-Prot:P32115

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