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Pax1 paired box 1 [ Mus musculus (house mouse) ]

Gene ID: 18503, updated on 21-Apr-2024

Summary

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Official Symbol
Pax1provided by MGI
Official Full Name
paired box 1provided by MGI
Primary source
MGI:MGI:97485
See related
Ensembl:ENSMUSG00000037034 AllianceGenome:MGI:97485
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
un; wt; hbs; Pax-1; hunchback; undulated
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 positive regulation of transcription by RNA polymerase II. Acts upstream of or within animal organ development; cell population proliferation; and somitogenesis. Predicted to be located in nucleus. Predicted to be part of transcription regulator complex. Is expressed in several structures, including branchial pouch; central nervous system; embryo mesenchyme; limb; and musculoskeletal system. Human ortholog(s) of this gene implicated in branchiootorenal syndrome. Orthologous to human PAX1 (paired box 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in thymus adult (RPKM 22.9), testis adult (RPKM 3.3) and 2 other tissues See more
Orthologs
human all
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Genomic context

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Location:
2 G2; 2 72.63 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (147203850..147216972)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (147361930..147375049)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene NK2 homeobox 2, opposite strand Neighboring gene predicted gene, 39955 Neighboring gene STARR-seq mESC enhancer starr_05960 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene paired box 1 divergent transcript Neighboring gene STARR-seq mESC enhancer starr_05961 Neighboring gene STARR-seq mESC enhancer starr_05962 Neighboring gene predicted gene, 39956 Neighboring gene predicted gene, 35479

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
  • 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. Genetical studies on the skeleton of the mouse. II. Undulated and its 'modifiers'. GRUNEBERG H. J Genet, 1950 Jun. PMID 24538930
  2. Extensive glycosylation changes revealed by lectin histochemistry in morphologically normal prenatal tissues of the mouse mutant undulated (un/un). Quondamatteo F, et al. Anat Rec, 2000 Mar 1. PMID 10705344
  3. [Non-Mendelian inheritance of the Un(s) mutant gene in mice]. Sakharova NIu, et al. Genetika, 1998 Jun. PMID 9719926
  4. Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturation. Wallin J, et al. Development, 1996 Jan. PMID 8565834
  5. Assignment of the paired box gene Pax1 to rat chromosome 3. Otsen M, et al. Mamm Genome, 1995 Sep. PMID 8535079

See all (280) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.
    Title: Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.
  2. Pax1 and Pax9 can transactivate regulatory sequences in the Bapx1 promoter to induce chondrogenic differentiation in the sclerotome.
    Title: Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome.
  3. Adult mice which carry a new allele of Pax1 have a lumbar scoliosis and kinky tails, a models for scoliosis
    Title: The scoliosis (sco) mouse: a new allele of Pax1.
  4. In addition to Hoxa3, this protein is required for both epithelial cell growth and differentiation throughout thymus and parathyroid organogenesis.
    Title: Hoxa3 and pax1 regulate epithelial cell death and proliferation during thymus and parathyroid organogenesis.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC175950

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
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 IMP
Inferred from Mutant Phenotype
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 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 IMP
Inferred from Mutant Phenotype
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 CD4-positive, alpha-beta T cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within CD8-positive, alpha-beta T cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within animal organ morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within parathyroid gland development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within pattern specification process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sclerotome development IEP
Inferred from Expression Pattern
more info
 PubMed 
acts_upstream_of_or_within skeletal system development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within skeletal system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within somitogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within thymus development IGI
Inferred from Genetic Interaction
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-1
Names
paired box gene 1
wavy tail

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_008780.2 → NP_032806.2  paired box protein Pax-1

    See identical proteins and their annotated locations for NP_032806.2

    Status: VALIDATED

    Source sequence(s)
    AL805918
    Consensus CDS
    CCDS16835.2
    UniProtKB/Swiss-Prot
    A2ALJ9, P09084, Q9R2B1
    UniProtKB/TrEMBL
    Q548R5
    Related
    ENSMUSP00000105594.3, ENSMUST00000109968.3
    Conserved Domains (1) summary
    cd00131
    Location:89 → 216
    PAX; Paired Box 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_000068.8 Reference GRCm39 C57BL/6J

    Range
    147203850..147216972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006498911.5 → XP_006498974.1  paired box protein Pax-1 isoform X1

    Conserved Domains (1) summary
    cd00131
    Location:177 → 304
    PAX; Paired Box domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P09084.4 GenPept UniProtKB/Swiss-Prot:P09084

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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