pax3a paired box 3a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: pax3aprovided by ZNC
Official Full Name: paired box 3aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-980526-52
See related: Ensembl:ENSDARG00000010192 AllianceGenome:ZFIN:ZDB-GENE-980526-52
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: pax3; zgc:92547
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within enteric nervous system development; neural crest cell migration; and xanthophore differentiation. Located in nucleus. Is expressed in several structures, including muscle; nervous system; neural crest; neural tube; and paraxial mesoderm. Human ortholog(s) of this gene implicated in Waardenburg syndrome type 1; Waardenburg syndrome type 3; Waardenburg's syndrome; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	2	NC_007113.7 (47373241..47431284, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	2	NC_007113.6 (47520844..47578861, complement)

Chromosome 2 - NC_007113.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A gene regulatory network combining Pax3/7, Sox10 and Mitf generates diverse pigment cell types in medaka and zebrafish.
Title: A gene regulatory network combining Pax3/7, Sox10 and Mitf generates diverse pigment cell types in medaka and zebrafish.
BMP, Wnt and FGF signaling are needed for expression of the neural plate border specifiers pax3a and zic3 in zebrafish
Title: BMP, Wnt and FGF signals are integrated through evolutionarily conserved enhancers to achieve robust expression of Pax3 and Zic genes at the zebrafish neural plate border.
evidence of YAP's role in regulating pax3 neural crest expression
Title: Yes-associated protein 65 (YAP) expands neural progenitors and regulates Pax3 expression in the neural plate border zone.
Pax3 in zebrafish is required for specification of two specific lineages of neural crest, xanthophores and enteric neurons.
Title: Sequential actions of Pax3 and Pax7 drive xanthophore development in zebrafish neural crest.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within enteric nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within xanthophore differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: paired box protein Pax-3; paired box protein Pax-3a

Names: etID309899.2; paired box gene 3; paired box gene 3a; paired box homeotic gene 3

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_131277.1 → NP_571352.1 paired box protein Pax-3a

See identical proteins and their annotated locations for NP_571352.1

Status: PROVISIONAL

Source sequence(s)

AF014366

UniProtKB/TrEMBL

A0A8M1PB17, O57416

Related

ENSDARP00000037761.6, ENSDART00000038828.7

Conserved Domains (3) summary

smart00351
Location:34 → 159

PAX; Paired Box domain

pfam00046
Location:223 → 276

Homeobox; Homeobox domain

pfam12360
Location:350 → 394

Pax7; Paired box protein 7

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

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

Reference GRCz11 Primary Assembly

Genomic

NC_007113.7 Reference GRCz11 Primary Assembly

Range

47373241..47431284 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017357648.2 → XP_017213137.1 paired box protein Pax-3 isoform X1

UniProtKB/TrEMBL

A0A8M6Z068
XM_017357647.2 → XP_017213136.2 paired box protein Pax-3 isoform X2

UniProtKB/TrEMBL

A0A8M6Z8D2

Conserved Domains (4) summary

smart00351
Location:34 → 158

PAX; Paired Box domain

pfam12360
Location:349 → 393

Pax7; Paired box protein 7

pfam00046
Location:222 → 275

Homeobox; Homeobox domain

pfam15991
Location:273 → 427

G_path_suppress; G-protein pathway suppressor