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

Summary

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 sclerotome 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, Dec 2024]
Expression: Restricted expression toward (RPKM 54.5) See more
Orthologs: human mouse all
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Genomic context

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_086021.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Pax1 (e-PCR), detects polymorphism
- UniSTS:238145

PMC21138P1 (e-PCR)
- UniSTS:272012

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)

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

NC_086021.1 Reference GRCr8

Range

155244961..155254836

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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.