Prrx1 paired related homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prrx1provided by MGI
Official Full Name: paired related homeobox 1provided by MGI
Primary source: MGI:MGI:97712
See related: Ensembl:ENSMUSG00000026586 AllianceGenome:MGI:97712
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: K-2; Pmx; Pmx1; Prx1; mHox; MHox1; A230024N07Rik
Summary: Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; HMG box domain binding activity; and RNA polymerase II general transcription initiation factor activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including embryonic morphogenesis; neuronal stem cell population maintenance; and positive regulation of cell population proliferation. Located in nucleus. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; heart and pericardium; and sensory organ. Human ortholog(s) of this gene implicated in agnathia-otocephaly complex. Orthologous to human PRRX1 (paired related homeobox 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 22.0), CNS E11.5 (RPKM 6.8) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H2.1; 1 70.53 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (163072688..163142714, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (163245119..163315145, complement)

Chromosome 1 - NC_000067.7 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 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?

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Title: Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
PRRX1 is a master transcription factor of stromal fibroblasts for myofibroblastic lineage progression.
Title: PRRX1 is a master transcription factor of stromal fibroblasts for myofibroblastic lineage progression.
Age-Progressive and Gender-Dependent Bone Phenotype in Mice Lacking Both Ebf1 and Ebf2 in Prrx1-Expressing Mesenchymal Cells.
Title: Age-Progressive and Gender-Dependent Bone Phenotype in Mice Lacking Both Ebf1 and Ebf2 in Prrx1-Expressing Mesenchymal Cells.
Prrx1 Fibroblasts Represent a Pro-fibrotic Lineage in the Mouse Ventral Dermis.
Title: Prrx1 Fibroblasts Represent a Pro-fibrotic Lineage in the Mouse Ventral Dermis.
Genetic association and characterization of FSTL5 in isolated clubfoot.
Title: Genetic association and characterization of FSTL5 in isolated clubfoot.
Isolation of PRRX1-positive adult pituitary stem/progenitor cells from the marginal cell layer of the mouse anterior lobe.
Title: Isolation of PRRX1-positive adult pituitary stem/progenitor cells from the marginal cell layer of the mouse anterior lobe.
PRRX1 deficiency induces mesenchymal-epithelial transition through PITX2/miR-200-dependent SLUG/CTNNB1 regulation in hepatocellular carcinoma.
Title: PRRX1 deficiency induces mesenchymal-epithelial transition through PITX2/miR-200-dependent SLUG/CTNNB1 regulation in hepatocellular carcinoma.
Cambium layer osteochondroprogenitors cells expressing Prx1, are programmed to rapidly populate distant tissues and produce bone via a primary cilium-mediated mechanism in the postnatal skeleton.
Title: Primary cilia are necessary for Prx1-expressing cells to contribute to postnatal skeletogenesis.
Postnatal PRX1-expressing stem cells of the calvaria are required for bone regeneration.
Title: Postnatal Calvarial Skeletal Stem Cells Expressing PRX1 Reside Exclusively in the Calvarial Sutures and Are Required for Bone Regeneration.
Data show that p38alpha mitogen-activated protein kinase (MAPK) in paired related homeobox 1 protein (Prx1+) bone marrow-derived mesenchymal stromal cells acts to preserve the bone by sustaining osteoprotegerin (OPG) production.
Title: p38α MAPK Regulates Lineage Commitment and OPG Synthesis of Bone Marrow Stromal Cells to Prevent Bone Loss under Physiological and Pathological Conditions.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

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

Endonuclease-mediated (5)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AA755424 (e-PCR)
- UniSTS:178492

AI843499 (e-PCR)
- UniSTS:178495

D1Mit506 (e-PCR), detects polymorphism
- UniSTS:128876

Prrx1 (e-PCR), detects polymorphism
- UniSTS:477294

NoName (e-PCR)
- UniSTS:482178

Prrx1 (e-PCR), detects polymorphism
- UniSTS:525268

Prrx1 (e-PCR), detects polymorphism
- UniSTS:498399

AI385634 (e-PCR)
- UniSTS:165113

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay 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 activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology 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 repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables HMG box domain binding	IPI Inferred from Physical Interaction 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 RNA polymerase II general transcription initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within artery morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic skeletal system morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of mesenchymal cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within middle ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within middle ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron fate determination	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuronal stem cell population maintenance	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of stem cell proliferation	IGI Inferred from Genetic Interaction 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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of neuron projection regeneration	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 roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	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

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Preferred Names: paired mesoderm homeobox protein 1

Names: homeobox protein K-2; homeobox protein mHox; muscle homeobox protein; paired-related homeobox protein 1

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.