| UniProt Protein Function: | PAX1: This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Transcription factor; DNA-binding Chromosomal Location of Human Ortholog: 20p11.2 Biological Process: skeletal development; transcription from RNA polymerase II promoter Disease: Otofaciocervical Syndrome 2 |
| NCBI 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] |
| UniProt Code: | P15863 |
| NCBI GenInfo Identifier: | 296439493 |
| NCBI Gene ID: | 5075 |
| NCBI Accession: | P15863.4 |
| UniProt Secondary Accession: | P15863,Q642X9, Q6NTC0, Q9Y558, B4E0D6, |
| UniProt Related Accession: | P15863 |
| Molecular Weight: | 53,393 Da |
| NCBI Full Name: | Paired box protein Pax-1 |
| NCBI Synonym Full Names: | paired box 1 |
| NCBI Official Symbol: | PAX1 |
| NCBI Official Synonym Symbols: | OFC2; HUP48 |
| NCBI Protein Information: | paired box protein Pax-1 |
| UniProt Protein Name: | Paired box protein Pax-1 |
| UniProt Synonym Protein Names: | HuP48 |
| Protein Family: | Paired box protein |
| UniProt Gene Name: | PAX1 |
| UniProt Entry Name: | PAX1_HUMAN |
