U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 18503, updated on 28-Dec-2022

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Pax1 in Genome Data Viewer
Location:
2 G2; 2 72.63 cM
Exon count:
6
Annotation release Status Assembly Chr Location
109 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 glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene expressed sequence AI646519 Neighboring gene predicted gene, 39956 Neighboring gene predicted gene, 35479

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC175950

Gene Ontology Provided by MGI

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
PubMed 
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
PubMed 
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

Preferred Names
paired box protein Pax-1
Names
paired box gene 1
wavy tail

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_008780.2NP_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
    P09084, Q9R2B1
    Related
    ENSMUSP00000105594.3, ENSMUST00000109968.3
    Conserved Domains (1) summary
    cd00131
    Location:89216
    PAX; Paired Box domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_006498911.5XP_006498974.1  paired box protein Pax-1 isoform X1

    Conserved Domains (1) summary
    cd00131
    Location:177304
    PAX; Paired Box domain