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

Summary

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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

NoName (e-PCR)
- UniSTS:484966

NoName (e-PCR)
- UniSTS:495493

Pax4 (e-PCR), detects polymorphism
- UniSTS:257233

Pax4 (e-PCR), detects polymorphism
- UniSTS:144126

Pax4 (e-PCR), detects polymorphism
- UniSTS:144127

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
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)

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
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
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