SERPINA1 - serpin family A member 1 Gene
Also Known as PI; A1A; AAT; PI1; A1AT; nNIF; PRO2275; alpha1AT
Species: Homo sapiens
About SERPINA1
This gene has 20 transcripts (splice variants), 1 gene allele, 126 orthologues, 36 paralogues and is associated with 4 phenotypes. Biased expression in liver (RPKM 3603.5) and small intestine (RPKM 158.3).
Summary
The protein encoded by this gene is a Serine Protease Inhibitor belonging to the Serpin superfamily whose targets include Elastase, plasmin, Thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
SERPINA1 Products (11)
| mRNA | Protein | Name |
|---|---|---|
| NM_000295.5 | NP_000286.3 | alpha-1-antitrypsin precursor |
| NM_001002235.3 | NP_001002235.1 | alpha-1-antitrypsin precursor |
| NM_001002236.3 | NP_001002236.1 | alpha-1-antitrypsin precursor |
| NM_001127700.2 | NP_001121172.1 | alpha-1-antitrypsin precursor |
| NM_001127701.2 | NP_001121173.1 | alpha-1-antitrypsin precursor |
| NM_001127702.2 | NP_001121174.1 | alpha-1-antitrypsin precursor |
| NM_001127703.2 | NP_001121175.1 | alpha-1-antitrypsin precursor |
| NM_001127704.2 | NP_001121176.1 | alpha-1-antitrypsin precursor |
| NM_001127705.2 | NP_001121177.1 | alpha-1-antitrypsin precursor |
| NM_001127706.2 | NP_001121178.1 | alpha-1-antitrypsin precursor |
| NM_001127707.2 | NP_001121179.1 | alpha-1-antitrypsin precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
11057674 | GOA |
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
15853774 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11057674 | GOA |
| enables serine-type endopeptidase inhibitor activity |
IDA
IDA: Inferred from direct assay
|
15795238 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
20477988 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
20477988 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
6980881 | GOA |
| located in extracellular space |
IMP
IMP: Inferred from mutant phenotype
|
16192646 | GOA |
SERPINA1 Protein Structure
Serpin: Serpin (serine protease inhibitor) (54 - 415)
- 0
- 100
- 200
- 300
- 400
- 418 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
alpha-1-antitrypsin |
|
SERPINA1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Cross
|
SERPINA1 | P01009 | espB | Escherichia coli | P71213 | 15271889 | |
|
Intra
|
SERPINA1 | P01009 | SSR1 | Homo sapiens | P43307 | 17380188 | |
|
Intra
|
SERPINA1 | P01009 | SSR1 | Homo sapiens | P43307 | 17380188 | |
|
Intra
|
SERPINA1 | P01009 | ERGIC3 | Homo sapiens | Q9Y282 | 31142615 | |
|
Intra
|
SERPINA1 | P01009 | SERPINA1 | Homo sapiens | P01009 | 21909074 | |
|
Intra
|
SERPINA1 | P01009 | SERPINA1 | Homo sapiens | P01009 | 18923394 | |
|
Intra
|
SERPINA1 | P01009 | SERPINA1 | Homo sapiens | P01009 | 22405009 | |
|
Intra
|
SERPINA1 | P01009 | SERPINA1 | Homo sapiens | P01009 | 21909074 | |
|
Intra
|
SERPINA1 | P01009 | SERPINA1 | Homo sapiens | P01009 | 21909074 | |
|
Intra
|
SERPINA1 | P01009 | SERPINA1 | Homo sapiens | P01009 | 11057674 | |
|
Cross
|
SERPINA1 | P01009 | PRSS1 | Bos taurus | P00760 | 11057674 | |
|
Cross
|
SERPINA1 | P01009 | PRSS1 | Bos taurus | P00760 | 22115549 | |
|
Cross
|
SERPINA1 | P01009 | PRSS1 | Bos taurus | P00760 | 16321984 | |
|
Cross
|
SERPINA1 | P01009 | CELA1 | Sus scrofa | P00772 | 16321984 |
Recombinant SERPINA1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7542 | Serpin A1 Protein, Human (HEK293, His) | AAH11991.1 (E25-K418) | ≥ 90%, as determined by reducing SDS-PAGE. |
SERPINA1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81377 | alpha 1 Antitrypsin Antibody (YA1122) | IHC-P | Human |
| HY-P81377A | alpha 1 Antitrypsin Antibody (YA1122)(PBS only) | IHC-P | Human |
| HY-P83894 | alpha 1 Antitrypsin Antibody (YA3591) | WB, IHC-P, ELISA | Human, Mouse |
| HY-P83894A | alpha 1 Antitrypsin Antibody (YA3591)(PBS only) | WB, IHC-P, ELISA | Human, Mouse |
| HY-P83895 | alpha 1 Antitrypsin Antibody (YA3592) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P83895A | alpha 1 Antitrypsin Antibody (YA3592)(PBS only) | IHC-P, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Alpha-1-Antitrypsin Deficiency |
|
|
| Hemorrhagic Disease Due To Alpha-1-Antitrypsin Pittsburgh Mutation |
|
|
| Pulmonary Disease, Chronic Obstructive |
|
|
| Intellectual Developmental Disorder, X-Linked 109 |
|
|
| Pulmonary Emphysema |
|
|
| Liver Disease |
|
|
| Cystic Fibrosis |
|
|
| Panniculitis |
|
|
| Viral Meningitis |
|
|
| Lung Disease |
|
|
| Bronchitis |
|
|
| Bronchiectasis |
|
|
| Liver Cirrhosis |
|
|
| Plasma Protein Metabolism Disease |
|
|
| Pneumothorax |
|
|
| Granulomatosis With Polyangiitis |
|
|
| Nodular Nonsuppurative Panniculitis |
|
|
| Viral Hepatitis |
|
|
| Siderosis |
|
|
| Acinar Cell Carcinoma |
|
|
| Hepatitis A |
|
|
| Vasculitis |
|
|
| Perforation Of Bile Duct |
|
|
| Purpura Fulminans |
|
|
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
|
| Asbestosis |
|
|
| Pneumoconiosis |
|
|
| Fibromyalgia |
|
|
| Fibromuscular Dysplasia |
|
|
| Hepatitis |
|
|
| Hemochromatosis, Type 1 |
|
|
| Protein-Losing Enteropathy |
|
|
| Boutonneuse Fever |
|
|
| Respiratory Failure |
|
|
| Cholestasis |
|
|
| Pulmonary Eosinophilia |
|
|
| Cholelithiasis |
|
|
| Congenital Granular Cell Tumor |
|
|
| Pancreatitis |
|
|
| Hyperlucent Lung |
|
|
| Cutis Laxa |
|
|
| Exfoliation Syndrome |
|
|
| Pneumonia |
|
|
| Gastritis, Familial Giant Hypertrophic |
|
|
| Bacterial Meningitis |
|
|
| Hepatoid Adenocarcinoma |
|
|
| Byssinosis |
|
|
| Liver Sarcoma |
|
|
| Constrictive Pericarditis |
|
|
| Pulmonary Hypertension |
|
|
| Pneumothorax, Primary Spontaneous |
|
|
| Pancreatoblastoma |
|
|
| Fibrosarcoma Of Bone |
|
|
| Mucinous Cystadenofibroma |
|
|
| Non-Alcoholic Fatty Liver Disease |
|
|
| Tyrosinemia, Type I |
|
|
| Pulmonary Talcosis |
|
|
| Situs Inversus |
|
|
| Acinar Cell Cystadenocarcinoma |
|
|
| Nephrotic Syndrome |
|
|
| Esophageal Varix |
|
|
| Ovarian Mixed Germ Cell Neoplasm |
|
|
| Iga Glomerulonephritis |
|
|
| Diarrhea |
|
|
| Tyrosinemia |
|
|
| Common Variable Immunodeficiency |
|
|
| Diverticulitis |
|
|
| Asthma |
|
|
| Urea Cycle Disorder |
|
|
| Restless Legs Syndrome |
|
|
| Alagille Syndrome 1 |
|
|
| Metal Metabolism Disorder |
|
|
| Hepatic Vascular Disease |
|
|
| Hepatocellular Carcinoma |
|
|
| Fructose Intolerance, Hereditary |
|
|
| Wilson Disease |
|
|
| Bile Duct Cysts |
|
|
| Crigler-Najjar Syndrome, Type I |
|
|
| Whipple Disease |
|
|
| Tobacco Addiction |
|
|
| Hemophilia B |
|
|
| Puerperal Pulmonary Embolism |
|
|
| Frontotemporal Dementia |
|
|
| Diabetes Mellitus |
|
|
| Disease By Infectious Agent |
|
|
| Complement Component 2 Deficiency |
|
|
| Colorectal Cancer |
|
|
| Sclerosing Cholangitis |
|
|
| Gastric Cancer |
|
|
| Anaerobic Pneumonia |
|
|
| Scoliosis |
|
|
| Mycobacterium Tuberculosis 1 |
|
|
| Viral Laryngitis |
|
|
| Progressive Familial Intrahepatic Cholestasis |
|
|
| Pleural Lipoma |
|
|
| Malaria |
|
|
| Pancreatic Cancer |
|
|
| Factor Viii Deficiency |
|
|
| Hematuria, Benign Familial |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Cholangitis, Primary Sclerosing |
|
|
| Lung Clear Cell Carcinoma |
|
|
| Polycystic Liver Disease |
|
|
| Bronchiectasis 1 |
|
|
| Eye Disease |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Celiac Disease 1 |
|
|
| Primary Biliary Cholangitis |
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
|
| Interstitial Lung Disease 2 |
|
|
| Primary Ciliary Dyskinesia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SERPINA1 | VGNC | VGNC:51681 |
| Rattus norvegicus | SERPINA1 | RGD | RGD:3326 |
| Bos taurus | SERPINA1 | VGNC | VGNC:53953 |
| Macaca mulatta | SERPINA1 | VGNC | VGNC:99237 |
| Others | SERPINA1 | NCBI |