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PAX3 paired box 3 [ Equus caballus (horse) ]

Gene ID: 100056517, updated on 18-Dec-2024

Summary

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Official Symbol
PAX3provided by VGNC
Official Full Name
paired box 3provided by VGNC
Primary source
VGNC:VGNC:49515
See related
Ensembl:ENSECAG00000014549
Gene type
protein coding
RefSeq status
MODEL
Organism
Equus caballus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus
Orthologs
human mouse all
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Genomic context

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See PAX3 in Genome Data Viewer
Location:
chromosome: 6
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_12 current TB-T2T (GCF_041296265.1) 6 NC_091689.1 (11345164..11437620, complement)
RS_2024_08 previous assembly EquCab3.0 (GCF_002863925.1) 6 NC_009149.3 (11108461..11200892, complement)

Chromosome 6 - NC_091689.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC111773786 Neighboring gene uncharacterized LOC138924881 Neighboring gene uncharacterized LOC138924569 Neighboring gene ring finger protein 228

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Thoroughbred Stallion gene expression
  • BioProject: PRJEB53382
  • Analysis date: Mon Jan 06 09:53:19 2025

Bibliography

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Related articles in PubMed

  1. Novel insights into Sabino1 and splashed white coat color patterns in horses. Druml T, et al. Anim Genet, 2018 Jun. PMID 29635692, Free PMC Article
  2. Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. Hauswirth R, et al. Anim Genet, 2013 Dec. PMID 23659293
  3. Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses. Hauswirth R, et al. PLoS Genet, 2012. PMID 22511888, Free PMC Article
  4. Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses. Negro S, et al. Anim Genet, 2017 Jun. PMID 28084638
  5. Annotation of the Protein Coding Regions of the Equine Genome. Hestand MS, et al. PLoS One, 2015. PMID 26107351, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pax3 and SB1 gene interact to create different coat color patterns
    Title: Novel insights into Sabino1 and splashed white coat color patterns in horses.
  2. No significant associations with coat color were found for PAX3 variants
    Title: Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses.
  3. A novel missense variant, PAX3:p.Pro32Arg, in Appaloosa horses with a splashed white phenotype in addition to their leopard complex spotting patterns.
    Title: Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
  4. several independent mutations in MITF and PAX3 together with known variants in the EDNRB and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes
    Title: Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in anatomical structure development IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
paired box protein Pax-3

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_041296265.1-RS_2024_12

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

Reference TB-T2T Primary Assembly

Genomic

  1. NC_091689.1 Reference TB-T2T Primary Assembly

    Range
    11345164..11437620 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_001494972.7 → XP_001495022.3  paired box protein Pax-3 isoform X2

    See identical proteins and their annotated locations for XP_001495022.3

    UniProtKB/TrEMBL
    A0A5F5PEY1
    Conserved Domains (3) summary
    pfam00046
    Location:221 → 274
    Homeobox; Homeobox domain
    pfam00292
    Location:34 → 158
    PAX; 'Paired box' domain
    pfam12360
    Location:346 → 390
    Pax7; Paired box protein 7

  2. XM_005610643.4 → XP_005610700.1  paired box protein Pax-3 isoform X1

    See identical proteins and their annotated locations for XP_005610700.1

    UniProtKB/TrEMBL
    A0A5F5PEY1, F7DM34
    Related
    ENSECAP00000012896.2
    Conserved Domains (3) summary
    smart00351
    Location:34 → 159
    PAX; Paired Box domain
    pfam00046
    Location:222 → 276
    Homeobox; Homeobox domain
    pfam12360
    Location:347 → 391
    Pax7; Paired box protein 7

  3. XM_001495160.5 → XP_001495210.1  paired box protein Pax-3 isoform X3

    See identical proteins and their annotated locations for XP_001495210.1

    UniProtKB/TrEMBL
    F7DM34
    Conserved Domains (3) summary
    pfam00046
    Location:222 → 275
    Homeobox; Homeobox domain
    pfam00292
    Location:34 → 159
    PAX; 'Paired box' domain
    pfam12360
    Location:347 → 391
    Pax7; Paired box protein 7
Nucleotide Protein
Heading Accession and Version

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