Pax7 paired box 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pax7provided by MGI
Official Full Name: paired box 7provided by MGI
Primary source: MGI:MGI:97491
See related: Ensembl:ENSMUSG00000028736 AllianceGenome:MGI:97491
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-7
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in skeletal muscle satellite cell differentiation. Acts upstream of or within several processes, including nervous system development; positive regulation of myoblast proliferation; and skeletal system development. Is active in nucleus. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; sensory organ; and skeletal musculature. Human ortholog(s) of this gene implicated in alveolar rhabdomyosarcoma and congenital myopathy 19. Orthologous to human PAX7 (paired box 7). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in whole brain E14.5 (RPKM 2.5), CNS E11.5 (RPKM 2.3) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 70.83 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (139464357..139560841, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (139737059..139833530, complement)

Chromosome 4 - NC_000070.7 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?

A dual-color PAX7 and MYF5 in vivo reporter to investigate muscle stem cell heterogeneity in regeneration and aging.
Title: A dual-color PAX7 and MYF5 in vivo reporter to investigate muscle stem cell heterogeneity in regeneration and aging.
Interplay between Pitx2 and Pax7 temporally governs specification of extraocular muscle stem cells.
Title: Interplay between Pitx2 and Pax7 temporally governs specification of extraocular muscle stem cells.
High-mobility group box-1 impedes skeletal muscle regeneration via downregulation of Pax-7 synthesis by increasing miR-342-5p expression.
Title: High-mobility group box-1 impedes skeletal muscle regeneration via downregulation of Pax-7 synthesis by increasing miR-342-5p expression.
Melatonin improves muscle injury and differentiation by increasing Pax7 expression.
Title: Melatonin improves muscle injury and differentiation by increasing Pax7 expression.
PAX7 Balances the Cell Cycle Progression via Regulating Expression of Dnmt3b and Apobec2 in Differentiating PSCs.
Title: PAX7 Balances the Cell Cycle Progression via Regulating Expression of Dnmt3b and Apobec2 in Differentiating PSCs.
Synthetic essentiality between PTEN and core dependency factor PAX7 dictates rhabdomyosarcoma identity.
Title: Synthetic essentiality between PTEN and core dependency factor PAX7 dictates rhabdomyosarcoma identity.
Epigenetic effects induced by the ectopic expression of Pax7 in 3T3-L1.
Title: Epigenetic effects induced by the ectopic expression of Pax7 in 3T3-L1.
Pax7 pioneer factor action requires both paired and homeo DNA binding domains.
Title: Pax7 pioneer factor action requires both paired and homeo DNA binding domains.
Pax7 as molecular switch regulating early and advanced stages of myogenic mouse ESC differentiation in teratomas.
Title: Pax7 as molecular switch regulating early and advanced stages of myogenic mouse ESC differentiation in teratomas.
Acetylation of PAX7 controls muscle stem cell self-renewal and differentiation potential in mice.
Title: Acetylation of PAX7 controls muscle stem cell self-renewal and differentiation potential in mice.

Submit: New GeneRIF Correction See all GeneRIFs (77)

Variation

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Alleles

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

Endonuclease-mediated (6) 1 citation
Targeted (19) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pax7 (e-PCR), detects polymorphism
- UniSTS:144129

Pax7 (e-PCR), detects polymorphism
- UniSTS:144130

Pax7 (e-PCR), detects polymorphism
- UniSTS:144131

Pax7 (e-PCR), detects polymorphism
- UniSTS:144132

Pax7 (e-PCR), detects polymorphism
- UniSTS:265734

Pax7 (e-PCR), detects polymorphism
- UniSTS:532322

Pax7 (e-PCR), detects polymorphism
- UniSTS:507883

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
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 factor 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 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 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
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within embryonic skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle tissue morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron fate commitment	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of myoblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA binding	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 fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of chromatin organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of chromatin organization	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
acts_upstream_of_or_within skeletal muscle satellite cell commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle satellite cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord association neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
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-7

Names: paired box gene 7; paired box transcription factor PAX7

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_011039.3 → NP_035169.1 paired box protein Pax-7

See identical proteins and their annotated locations for NP_035169.1

Status: VALIDATED

Source sequence(s)

AL831790, AL844480

Consensus CDS

CCDS18850.1

UniProtKB/Swiss-Prot

P47239, Q9ES16

Related

ENSMUSP00000030508.7, ENSMUST00000030508.14

Conserved Domains (3) summary

smart00351
Location:34 → 159

PAX; Paired Box domain

pfam00046
Location:218 → 272

Homeobox; Homeobox domain

pfam12360
Location:345 → 383

Pax7; Paired box protein 7

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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

139464357..139560841 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006538630.2 → XP_006538693.1 paired box protein Pax-7 isoform X2

Conserved Domains (3) summary

smart00351
Location:34 → 160

PAX; Paired Box domain

pfam00046
Location:219 → 273

Homeobox; Homeobox domain

pfam12360
Location:346 → 384

Pax7; Paired box protein 7
XM_006538629.2 → XP_006538692.1 paired box protein Pax-7 isoform X1

UniProtKB/TrEMBL

G3UX36

Related

ENSMUSP00000133536.2, ENSMUST00000174681.2

Conserved Domains (3) summary

smart00351
Location:34 → 161

PAX; Paired Box domain

pfam00046
Location:220 → 274

Homeobox; Homeobox domain

pfam12360
Location:347 → 385

Pax7; Paired box protein 7
XM_006538631.2 → XP_006538694.1 paired box protein Pax-7 isoform X3

Conserved Domains (3) summary

smart00351
Location:34 → 158

PAX; Paired Box domain

pfam00046
Location:217 → 271

Homeobox; Homeobox domain

pfam12360
Location:344 → 382

Pax7; Paired box protein 7