PRRX1 - paired related homeobox 1 Gene
Also Known as PMX1; PRX1; AGOTC; PHOX1; PRX-1
生物種: Homo sapiens
About PRRX1
This gene has 8 transcripts (splice variants), 222 orthologues, 50 paralogues and is associated with 62 phenotypes. Broad expression in endometrium (RPKM 34.6), fat (RPKM 27.9) and 17 other tissues.
Summary
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle Creatine Kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]
PRRX1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_006902.5 | NP_008833.1 | paired mesoderm homeobox protein 1 isoform pmx-1a |
| NM_022716.4 | NP_073207.1 | paired mesoderm homeobox protein 1 isoform pmx-1b |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables DNA-binding transcription activator activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
9334314 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
1509260 | GOA |
| enables RNA polymerase II-specific DNA-binding transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
9334314 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
9334314 | GOA |
PRRX1 Protein Structure
Homeobox: Homeobox domain (95 - 151)
OAR: OAR domain (219 - 236)
- 0
- 100
- 200
- 245 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
paired mesoderm homeobox protein 1 |
|
関連疾患
| Diseases | Alias | |
|---|---|---|
| Agnathia-Otocephaly Complex |
|
|
| Holoprosencephaly |
|
|
| Situs Inversus |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Mus musculus | PRRX1 | MGD | MGI:97712 |
| Rattus norvegicus | PRRX1 | RGD | RGD:628884 |
| Felis catus | PRRX1 | VGNC | VGNC:68929 |
| Canis familiaris | PRRX1 | VGNC | VGNC:45061 |
| Bos taurus | PRRX1 | VGNC | VGNC:33412 |
| Macaca mulatta | PRRX1 | VGNC | VGNC:106475 |
| Others | PRRX1 | NCBI |