InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PAX7

Summary

InnateDB Gene

IDBG-92024.6

Last Modified

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

Gene Symbol

PAX7

Gene Name

paired box 7

Synonyms

HUP1; PAX7B; RMS2

Species

Homo sapiens

Ensembl Gene

ENSG00000009709

Encoded Proteins

IDBP-92026

paired box 7

IDBP-227691

paired box 7

IDBP-372625

paired box 7

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 this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:18631006-18748866

Strand

Forward strand

Band

p36.13

Transcripts

ENST00000375375	ENSP00000364524
ENST00000400661	ENSP00000383502
ENST00000420770	ENSP00000403389

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000983	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0006338	chromatin remodeling
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007519	skeletal muscle tissue development
GO:0009653	anatomical structure morphogenesis
GO:0010453	regulation of cell fate commitment
GO:0010468	regulation of gene expression
GO:0014813	satellite cell commitment
GO:0021527	spinal cord association neuron differentiation
GO:0021904	dorsal/ventral neural tube patterning
GO:0031062	positive regulation of histone methylation
GO:0043066	negative regulation of apoptotic process
GO:0043393	regulation of protein binding
GO:0043403	skeletal muscle tissue regeneration
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048663	neuron fate commitment
GO:0048706	embryonic skeletal system development
GO:0051216	cartilage development
GO:0060415	muscle tissue morphogenesis
GO:2000288	positive regulation of myoblast proliferation

Cellular Component

GO:0005634

nucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028736

View Gene Order

ENSBTAG00000014967

Not yet available

Cross-References

SwissProt

P23759

TrEMBL

UniProt Splice Variant

Entrez Gene

5081

UniGene

Hs.113253

RefSeq

NM_001135254 XM_005245884 NM_002584 NM_013945

HUGO

HGNC:8621

OMIM

167410

CCDS

CCDS44074 CCDS186 CCDS44075

HPRD

01331

IMGT

EMBL

AL021528 BC121165 BC121166 CH471134 DQ322591 X15042 X15250 X15251 X96743 X96744 X96745 X96746 X96747 X96748 Z35141

GenPept

AAI21166 AAI21167 ABC48797 CAA16432 CAA65520 CAA65521 CAA65522 CAA84513 EAW94853

RNA Seq Atlas

5081