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Pax1 paired box 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 311505, updated on 4-Jan-2025

Summary

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Official Symbol
Pax1provided by RGD
Official Full Name
paired box 1provided by RGD
Primary source
RGD:1588548
See related
EnsemblRapid:ENSRNOG00000024882 AllianceGenome:RGD:1588548
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
Pax-1
Summary
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in several processes, including regulation of transcription by RNA polymerase II; sclerotome development; and skeletal system development. Predicted to act upstream of or within several processes, including alpha-beta T cell differentiation; parathyroid gland development; and thymus development. Predicted to be located in nucleus. Human ortholog(s) of this gene implicated in branchiootorenal syndrome. Orthologous to human PAX1 (paired box 1). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Restricted expression toward (RPKM 54.5) See more
Orthologs
human mouse all
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Genomic context

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See Pax1 in Genome Data Viewer
Location:
3q41
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (155244961..155254836)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (134792330..134801637)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (141577124..141589849)

Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene NK2 homeobox 2 Neighboring gene uncharacterized LOC108350489 Neighboring gene uncharacterized LOC108350490 Neighboring gene enolase 1, pseudogene 30

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Aberrant Epigenetic Alteration of PAX1 Expression Contributes to Parathyroid Tumorigenesis. Singh P, et al. J Clin Endocrinol Metab, 2022 Jan 18. PMID 34453169, Free PMC Article
  2. The molecular basis of the undulated/Pax-1 mutation. Chalepakis G, et al. Cell, 1991 Sep 6. PMID 1889089
  3. Expression and function of Pax 1 during development of the pectoral girdle. Timmons PM, et al. Development, 1994 Oct. PMID 7607069
  4. The scoliosis (sco) mouse: a new allele of Pax1. Adham IM, et al. Cytogenet Genome Res, 2005. PMID 16093716
  5. Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome. Rodrigo I, et al. Development, 2003 Feb. PMID 12490554

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Aberrant Epigenetic Alteration of PAX1 Expression Contributes to Parathyroid Tumorigenesis.
    Title: Aberrant Epigenetic Alteration of PAX1 Expression Contributes to Parathyroid Tumorigenesis.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
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 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 ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within CD8-positive, alpha-beta T cell differentiation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within bone morphogenesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cell population proliferation ISO
Inferred from Sequence Orthology
more info
  
involved_in embryo development ending in birth or egg hatching IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within parathyroid gland development ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within pattern specification process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sclerotome development ISO
Inferred from Sequence Orthology
more info
  
involved_in skeletal system development IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within skeletal system development ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within somitogenesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within thymus development ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
paired box protein Pax-1
Names
Paired box homeotic gene 1
paired box gene 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.

mRNA and Protein(s)

  1. NM_001401899.1 → NP_001388828.1  paired box protein Pax-1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    Related
    ENSRNOP00000062281.3, ENSRNOT00000067983.3

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

  1. NC_086021.1 Reference GRCr8

    Range
    155244961..155254836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_063283810.1 → XP_063139880.1  paired box protein Pax-1 isoform X1

    UniProtKB/TrEMBL
    A0A8I6GM82

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001107787.1: Suppressed sequence

    Description
    NM_001107787.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version

Gene LinkOut

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

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