InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Pax3

Summary

InnateDB Gene

IDBG-172194.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Pax3

Gene Name

paired box gene 3

Synonyms

Pax-3; Sp; splotch

Species

Mus musculus

Ensembl Gene

ENSMUSG00000004872

Encoded Proteins

IDBP-172196

paired box gene 3

IDBP-172198

paired box gene 3

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000135903:
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:78101267-78197134

Strand

Reverse strand

Band

Transcripts

ENSMUST00000087086	ENSMUSP00000084320
ENSMUST00000004994	ENSMUSP00000004994
ENSMUST00000172555

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
They are also associated with 21 interaction(s) predicted by orthology.

Experimentally validated
Total	45 [view]
Protein-Protein	37 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	4 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	21 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding
GO:0071837	HMG box domain binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001755	neural crest cell migration
GO:0001843	neural tube closure
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007507	heart development
GO:0007517	muscle organ development
GO:0008283	cell proliferation
GO:0008284	positive regulation of cell proliferation
GO:0014807	regulation of somitogenesis
GO:0016477	cell migration
GO:0021527	spinal cord association neuron differentiation
GO:0021915	neural tube development
GO:0035914	skeletal muscle cell differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048066	developmental pigmentation
GO:0048663	neuron fate commitment
GO:0055007	cardiac muscle cell differentiation
GO:0060594	mammary gland specification

Cellular Component

GO:0005634	nucleus
GO:0005667	transcription factor complex

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000135903

View Gene Order

ENSBTAG00000009950

Not yet available

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

KEGG

INOH

PID NCI

rb_1pathway

Regulation of retinoblastoma protein

Cross-References

SwissProt

P24610

TrEMBL

Q8BRF1

UniProt Splice Variant

Entrez Gene

18505

UniGene

Mm.1371 Mm.472239

RefSeq

NM_001159520 NM_008781 XM_006496442

OMIM

CCDS

CCDS15082 CCDS48294

HPRD

IMGT

MGI ID

MGI:97487

MGI Symbol

Pax3

EMBL

AC115893 AC118213 AK014337 AK044985 AK045018 AK148354 BC048699 S66429 S66433 X59358

GenPept

AAB20359 AAB20360 AAH48699 BAB29280 BAC32170 BAC32185 BAE28501 CAA42008

RNA Seq Atlas

18505