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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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