| GENE NAME | SMAD1 |
| CHROMOSOME | 4 |
| ENSEMBL ID | ENSG00000170365 |
| ENTREZ ID | 4086 |
| UNIPROT ACCESSION NUMBER | Q15797 |
| GO MOLECULAR FUNCTION | protein binding; DNA-binding transcription activator activity, RNA polymerase II-specific; I-SMAD binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-597592; R-HSA-9006936; R-HSA-74160; R-HSA-8941326; hsa05202; R-HSA-392499; R-HSA-8878166; hsa04350; R-HSA-162582; hsa04550; R-HSA-5688426; R-HSA-5689880; hsa04390; R-HSA-201451; R-HSA-73857; R-HSA-212436 |
| 1 combination linked to SMAD1 | OLI006 |
| 1 variant linked to SMAD1 | SMAD1:c.738G>C, p.Met246Ile |
| 1 disease linked to SMAD1 | Pulmonary arterial hypertension associated with congenital heart disease |