InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PAX3

Summary

InnateDB Gene

IDBG-82144.6

Last Modified

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

Gene Symbol

PAX3

Gene Name

paired box 3

Synonyms

CDHS; HUP2; WS1; WS3

Species

Homo sapiens

Ensembl Gene

ENSG00000135903

Encoded Proteins

IDBP-82146

paired box 3

IDBP-82148

paired box 3

IDBP-82150

paired box 3

IDBP-82152

paired box 3

IDBP-246408

paired box 3

IDBP-246410

paired box 3

IDBP-292984

paired box 3

IDBP-292986

paired box 3

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 2:222199888-222298996

Strand

Reverse strand

Band

q36.1

Transcripts

ENST00000344493	ENSP00000342092
ENST00000350526	ENSP00000343052
ENST00000336840	ENSP00000338767
ENST00000258387	ENSP00000258387
ENST00000392070	ENSP00000375922
ENST00000392069	ENSP00000375921
ENST00000409551	ENSP00000386750
ENST00000409828	ENSP00000386817
ENST00000464706
ENST00000555548

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.

Experimentally validated
Total	29 [view]
Protein-Protein	24 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	18 [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:0006915	apoptotic process
GO:0007507	heart development
GO:0007517	muscle organ development
GO:0007605	sensory perception of sound
GO:0008283	cell proliferation
GO:0008284	positive regulation of cell proliferation
GO:0009887	organ morphogenesis
GO:0014807	regulation of somitogenesis
GO:0016477	cell migration
GO:0021527	spinal cord association neuron differentiation
GO:0021915	neural tube development
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:0060594	mammary gland specification

Cellular Component

GO:0005634

nucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000004872

View Gene Order

ENSBTAG00000009950

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

rb_1pathway

Regulation of retinoblastoma protein

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.42146

RefSeq

NM_000438 NM_001127366 NM_013942 NM_181457 NM_181458 NM_181459 NM_181460 NM_181461 XM_006712559

HUGO

OMIM

CCDS

CCDS2448 CCDS2449 CCDS2450 CCDS2451 CCDS42825 CCDS42826 CCDS46522 CCDS46523

HPRD

09421

IMGT

EMBL

GenPept

RNA Seq Atlas