Version 5.4
Homo sapiens Gene: PAX1
Summary
InnateDB Gene IDBG-59158.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAX1
Gene Name paired box 1
Synonyms HUP48; OFC2
Species Homo sapiens
Ensembl Gene ENSG00000125813
Encoded Proteins
IDBP-232980
paired box 1
IDBP-369045
paired box 1
IDBP-809251
paired box 1
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. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:21705659-21718486
Strand Forward strand
Band p11.22
Transcripts
ENST00000398485 ENSP00000381499
ENST00000444366 ENSP00000410355
ENST00000460221
ENST00000485038
ENST00000613128 ENSP00000481334
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
Biological Process
GO:0001501 skeletal system development
GO:0001756 somitogenesis
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007389 pattern specification process
GO:0008283 cell proliferation
GO:0043367 CD4-positive, alpha-beta T cell differentiation
GO:0043374 CD8-positive, alpha-beta T cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048538 thymus development
GO:0060017 parathyroid gland development
GO:0060349 bone morphogenesis
GO:0061056 sclerotome development
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000037034
View Gene Order
ENSBTAG00000006742
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.122310
RefSeq NM_001257096 NM_006192
HUGO
OMIM
CCDS CCDS13146 CCDS74709
HPRD 01332
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca