pax3.L paired box 3 L homeolog [Xenopus laevis (African clawed frog)] - Gene

Summary

Official Symbol: pax3.L
Official Full Name: paired box 3 L homeolog
Primary source: Xenbase:XB-GENE-6252072
Locus tag: XELAEV_18027783mg
See related: EnsemblRapid:ENSXLAG00005015565 AllianceGenome:Xenbase:XB-GENE-6252072
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Xenopus laevis
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Amphibia; Batrachia; Anura; Pipoidea; Pipidae; Xenopodinae; Xenopus; Xenopus
Also known as: ws1; Pax3; cdhs; hup2; pax3; pax-3; pax3b; xpax3; pax3-a; pax3-b; pax3.S; xPax3-B
Summary: Predicted to enable DNA binding activity and DNA-binding transcription factor activity, RNA polymerase II-specific. Acts upstream of or within cell surface receptor signaling pathway; hatching gland development; and neural crest cell fate commitment. Predicted to be located in nucleus. Is expressed in ectoderm; musculoskeletal system; and nervous system. Human ortholog(s) of this gene implicated in Waardenburg syndrome; Waardenburg syndrome type 1; Waardenburg syndrome type 3; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3). [provided by Alliance of Genome Resources, Jan 2025]
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Genomic context

Location:: chromosome: 5L

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
101	current	Xenopus_laevis_v10.1 (GCF_017654675.1)	5L	NC_054379.1 (133741552..133788541, complement)
100	previous assembly	Xenopus_laevis_v2 (GCF_001663975.1)	5L	NC_030732.1 (122954448..123012900, complement)

Chromosome 5L - NC_054379.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The pax3 and Pax7 paralogs cooperate in neural and neural crest patterning using distinct molecular mechanisms, in Xenopus laevis embryos.
Title: The Pax3 and Pax7 paralogs cooperate in neural and neural crest patterning using distinct molecular mechanisms, in Xenopus laevis embryos.

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General gene information

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Gene Ontology Provided by Xenbase

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anatomical structure morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hatching gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neural crest cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neural crest formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: paired box protein Pax-3-B

Names: Waardenburg syndrome 1; paired box 3 S homeolog; paired box 3 b; paired-domain transcription factor Pax3-B

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_001095525.1 → NP_001088994.1 paired box protein Pax-3-B

See identical proteins and their annotated locations for NP_001088994.1

Status: PROVISIONAL

Source sequence(s)

AY725268

UniProtKB/Swiss-Prot

Q0IH87, Q5UCU0, Q645N5

UniProtKB/TrEMBL

A0A974CX03

Conserved Domains (4) summary

COG5576
Location:146 → 256

COG5576; Homeodomain-containing transcription factor [Transcription]

pfam00046
Location:200 → 253

Homeobox; Homeobox domain

pfam12360
Location:324 → 368

Pax7; Paired box protein 7

cl21459
Location:35 → 138

HTH; Helix-turn-helix domains

RefSeqs of Annotated Genomes: Xenopus laevis Annotation Release 101 details...

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

Reference Xenopus_laevis_v10.1 Primary Assembly

Genomic

NC_054379.1 Reference Xenopus_laevis_v10.1 Primary Assembly

Range

133741552..133788541 complement

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GenBank, FASTA, Sequence Viewer (Graphics)