Paired box protein Pax-3

Function

Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10.

Classification

Family (Pfam)

PF00046 Homeodomain, PF00292 PAX, PF12360 Pax7

InterPro

HD, Homeobox_CS, Homeodomain-like_sf, PAIRED_DNA-bd_dom, Paired_dom, Pax7_C, PAX_fam, WH-like_DNA-bd_sf

Functional cluster

Homeobox & Zinc-Finger Transcription Factors

Experimental structures · PDB · 1

• 3CMY X-ray 1.95A

A predicted model is available from AlphaFold.

Gene Ontology · 16

• GO:0000785 chromatin
• GO:0005654 nucleoplasm
• GO:0003700 DNA-binding transcription factor activity
• GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
• GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
• GO:0043565 sequence-specific DNA binding
• GO:1990837 sequence-specific double-stranded DNA binding
• GO:0009887 animal organ morphogenesis
• GO:0006915 apoptotic process
• GO:0006351 DNA-templated transcription
• GO:0007517 muscle organ development
• GO:0007399 nervous system development
• GO:0045893 positive regulation of DNA-templated transcription
• GO:0045944 positive regulation of transcription by RNA polymerase II
• GO:0006357 regulation of transcription by RNA polymerase II
• GO:0007605 sensory perception of sound

Disease associations

• craniofacial-deafness-hand syndrome MONDO:0007395
• Waardenburg syndrome type 3 MONDO:0007862
• Waardenburg syndrome type 1 MONDO:0008670
• alveolar rhabdomyosarcoma MONDO:0009994

Neighborhood · nearest proteins

Related proteins · sequence + function similarity

• Paired box protein Pax-3 1.00
• Paired box protein Pax-3-B 0.98
• Paired box protein Pax-3-A 0.97
• Paired box protein Pax-7 0.97
• Paired box protein Pax-3 0.96
• Paired box protein Pax-7 0.96
• Paired box protein Pax-6 0.92
• Paired box protein Pax-6 0.91
• Paired box protein Pax-6 0.91
• Paired box protein Pax-6 0.91
• Paired box protein Pax-6 0.91
• Paired box protein Pax-6 0.91

Co-cited proteins · studied together in the literature

• Paired box protein Pax-1 2 shared papers
• Paired box protein Pax-7 2 shared papers
• Transcription factor SOX-10 1 shared papers
• Microphthalmia-associated transcription factor 1 shared papers
• Forkhead box protein O1 1 shared papers
• Nuclear receptor coactivator 1 1 shared papers
• Death domain-associated protein 6 1 shared papers

Literature · 36 cited papers

• Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. Hum. Genet. · 2012
• Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation. Int. J. Biochem. Cell Biol. · 2011
• Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. Biochem. Biophys. Res. Commun. · 2010
• Structural basis for DNA recognition by the human PAX3 homeodomain. Biochemistry · 2009
• A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. Mol. Vis. · 2006
• Functional analysis of alternative isoforms of the transcription factor PAX3 in melanocytes in vitro. Cancer Res. · 2006
• Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature · 2005
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
• Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. Cancer Res. · 2004
• Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
• Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin. Int. J. Cancer · 2004
• Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am. J. Med. Genet. A · 2003
• … and 24 more in the literature graph