| Gene Information | |
|---|---|
| Gene Name | PI |
| Organism | Homo sapiens (Human) |
| Gene Length | 418 |
| Protein Names | Alpha-1-antitrypsin (Alpha-1 protease inhibitor) (Alpha-1-antiproteinase) (Serpin A1) [Cleaved into: Short peptide from AAT (SPAAT)] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P01009 |
| Gene Card | SERPINA1 |
| Uniprot ID | P01009 |
| Pfam | PF00079 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Ubiquitous. Expressed in leukocytes and plasma. {ECO:0000269|PubMed:23826168}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1ATU (X-ray 2.70A ) 1D5S (X-ray 3.00A ) 1EZX (X-ray 2.60A ) 1HP7 (X-ray 2.10A ) 1IZ2 (X-ray 2.20A ) 1KCT (X-ray 3.46A ) 1OO8 (X-ray 2.65A ) 1OPH (X-ray 2.30A ) 1PSI (X-ray 2.92A ) 1QLP (X-ray 2.00A ) 1QMB (X-ray 2.60A ) 2D26 (X-ray 3.30A ) 2QUG (X-ray 2.00A ) 3CWL (X-ray 2.44A ) 3CWM (X-ray 2.51A ) 3DRM (X-ray 2.20A ) 3DRU (X-ray 3.20A ) 3NDD (X-ray 1.50A ) 3NDF (X-ray 2.70A ) 3NE4 (X-ray 1.81A ) 3T1P (X-ray 3.90A ) 4PYW (X-ray 1.91A ) 5IO1 (X-ray 3.34A ) 5NBU (X-ray 1.67A ) 5NBV (X-ray 1.73A ) 6HX4 (X-ray 2.95A ) 6I4V (X-ray 1.78A ) 6I7U (X-ray 1.55A ) 6IAY (X-ray 1.90A ) 6ROD (X-ray 1.85A ) 7AEL (X-ray 1.76A ) 7API (X-ray 3.00A ) 7NPK (X-ray 1.83A ) 7NPL (X-ray 1.82A ) 8API (X-ray 3.10A ) 9API (X-ray 3.00A ) |
| DBSNP | rs199422212 rs11558262 rs149319176 rs28931570 rs28931569 rs199687431 rs55819880 rs111850950 rs28931568 rs1490133295 rs199422213 rs886044322 rs28931572 rs709932 rs11558261 rs112030253 rs112030253 rs864622051 rs199422208 rs6647 rs28929470 rs121912714 rs17580 rs201788603 rs1802959 rs143370956 rs28929474 rs121912713 rs569384943 rs12233 rs121912712 rs199422209 rs1303 |
| Subcellular location [CC] | Secreted. Endoplasmic reticulum. Note=The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.; [Short peptide from AAT]: Secreted, extracellular space, extracellular matrix. |
| Mouse PG classification | NA |
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