GENE NAME | SERPINA1 |
CHROMOSOME | 14 |
ENSEMBL ID | ENSG00000197249 |
ENTREZ ID | 5265 |
UNIPROT ACCESSION NUMBER | P01009 |
GO MOLECULAR FUNCTION | protein binding; serine-type endopeptidase inhibitor activity; identical protein binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-199977; R-HSA-597592; R-HSA-381426; R-HSA-168249; R-HSA-392499; R-HSA-114608; R-HSA-5653656; R-HSA-6798695; R-HSA-204005; R-HSA-109582; R-HSA-199991; R-HSA-76005; R-HSA-948021; R-HSA-76002; R-HSA-8957275; hsa04610; hsa04610; R-HSA-446203; R-HSA-5694530; R-HSA-168256 |
3 combinations linked to SERPINA1 | OLI804; OLI803; OLI801 |
2 variants linked to SERPINA1 | SERPINA1:c.863A>T, p.Glu288Val; SERPINA1:c.1096G>A, p.Glu366Lys |
1 disease linked to SERPINA1 | Cystic fibrosis |