Property Summary

NCBI Gene PubMed Count 470
Grant Count 610
R01 Count 310
Funding $155,120,634.97
PubMed Score 5495.01
PubTator Score 2342.79

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (83)

Disease Z-score Confidence
Alpha 1-antitrypsin deficiency 10 8.297 4.0
Chronic obstructive pulmonary disease 146 6.157 3.1
protein-losing enteropathy 11 5.997 3.0
Liver disease 219 5.914 3.0
Cancer 2,346 4.991 2.5
Bronchitis 44 4.718 2.4
cystic fibrosis 1,665 4.647 2.3
Fibromyalgia 22 4.532 2.3
Bronchiectasis 29 4.403 2.2
Pancreatitis 97 4.234 2.1
Vascular disease 281 4.034 2.0
Cholestasis 93 3.979 2.0
Histiocytosis 12 3.978 2.0
Skin disease 65 3.935 2.0
Rheumatoid Arthritis 1,160 3.831 1.9
Asthma 349 3.807 1.9
Crohn's disease 304 3.787 1.9
Adult respiratory distress syndrome 3 3.775 1.9
Hypersensitivity reaction type II diseas... 235  3.595 1.8
interstitial lung disease 291 3.544 1.8
Diarrhea 155 3.448 1.7
Kidney disease 396 3.446 1.7
Pneumonia 133 3.267 1.6
Hepatitis B 103 3.26 1.6
Colitis 46 3.212 1.6
Pneumothorax 17 3.204 1.6
Constrictive pericarditis 4 3.11 1.6
Disseminated intravascular coagulation 32 3.066 1.5
Adenocarcinoma 115
Anxiety Disorders 37
Arteriosclerosis 5
Asbestosis 10
Barrett's esophagus 183
Bipolar Disorder 266
Chronic Obstructive Airway Disease 47
FRAXE Syndrome 2
HIV Infections 100
Hemorrhage 18
Hypoglycemia 81
Liver Cirrhosis 101
Liver carcinoma 217
Liver diseases 66
Lung Neoplasms 171
Lung diseases 48
Neoplasm Metastasis 138
Neurodegenerative Disorders 37
Panniculitis, Nodular Nonsuppurative 1
Pathological accumulation of air in tiss... 11 
Pulmonary Fibrosis 66
Pulmonary emphysema 34
Stomach Neoplasms 282
Thiamine Deficiency 1
Vasculitis 64
active Crohn's disease 918
atypical teratoid / rhabdoid tumor 4,369
breast carcinoma 1,614
chronic lymphosyte leukemia 232
cutaneous lupus erythematosus 1,056
esophageal adenocarcinoma 737
fibroadenoma 557
gastric carcinoma 832
glioblastoma 5,572
group 3 medulloblastoma 2,254
head and neck cancer and chronic obstruc... 237 
interstitial cystitis 2,299
invasive ductal carcinoma 2,950
lung cancer 4,466
lung carcinoma 2,844
medulloblastoma, large-cell 6,234
mucosa-associated lymphoid tissue lympho... 480 
nephrosclerosis 329
non-small cell lung cancer 2,798
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
pancreatic ductal adenocarcinoma liver m... 1,795 
pediatric high grade glioma 2,712
periodontitis 269
pilocytic astrocytoma 3,086
posterior fossa group A ependymoma 1,511
psoriasis 6,685
tuberculosis 1,557
ulcerative colitis 2,087

Expression

Synonym

Accession P01009 A6PX14 B2RDQ8 Q0PVP5 Q13672 Q53XB8 Q5U0M1 Q7M4R2 Q86U18 Q86U19 Q96BF9 Q96ES1 Q9P1P0 Q9UCE6 Q9UCM3
Symbols PI
A1A
AAT
PI1
A1AT
PRO2275
alpha1AT

Gene

PDB

1ATU   1D5S   1EZX   1HP7   1IZ2   1KCT   1OO8   1OPH   1PSI   1QLP   1QMB   2D26   2QUG   3CWL   3CWM   3DRM   3DRU   3NDD   3NDF   3NE4   3T1P   4PYW   5IO1   7API   8API   9API  

Gene RIF (384)

PMID Text
26797521 We conclude that API M358R inhibits FVIIa by forming inhibitory complexes of the serpin type more rapidly than AT in the absence of heparin.
26772976 Urinary CD59 and alpha-1 antitrypsin are significantly altered in hypertensive patients developing albuminuria.
26634430 low serum levels of AAT in patients with HSAP are correlated with disease severity and AAT may represent a potential target for therapies aiming to improve pancreatitis.
26444279 An increased NE: A1 AT ratio is closely associated with liver Inflammation in patients with NASH and could serve as a novel marker to predict NASH in humans
26371243 The BLT1 Inhibitory Function of alpha-1 Antitrypsin Augmentation Therapy Disrupts Leukotriene B4 Neutrophil Signaling.
26363050 A1AT binds to FA, and it is this form of A1AT that induces Angptl4 and FABP4 expression via a PPAR-dependent pathway.
26321041 In the title.
26310624 findings show that alpha-1-antitrypsin induces the expression of hepcidin in hepatocytes probably via inhibition of alpha-1-antitrypsin.
26295339 FBG1 degrades A1AT-Z through a Beclin1-dependent arm of autophagy.
26243289 In patients with alpha-1-antitrypsin deficiency disease a method to quantify A1AT allele protein expression was developed.
More...

AA Sequence

MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSN      1 - 70
STNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGN     71 - 140
GLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVN    141 - 210
YIFFKGKWERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPD    211 - 280
EGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAP    281 - 350
LKLSKAVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK      351 - 418
//

Text Mined References (480)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26797521 2016 The M358R variant of ?(1)-proteinase inhibitor inhibits coagulation factor VIIa.
26772976 2016 Urinary alpha-1 antitrypsin and CD59 glycoprotein predict albuminuria development in hypertensive patients under chronic renin-angiotensin system suppression.
26634430 2015 Hepatic steatosis depresses alpha-1-antitrypsin levels in human and rat acute pancreatitis.
26444279 2016 Increased ratio of neutrophil elastase to ?1-antitrypsin is closely associated with liver inflammation in patients with nonalcoholic steatohepatitis.
26371243 2015 The BLT1 Inhibitory Function of ?-1 Antitrypsin Augmentation Therapy Disrupts Leukotriene B4 Neutrophil Signaling.
26363050 2015 ?1-Antitrypsin Combines with Plasma Fatty Acids and Induces Angiopoietin-like Protein 4 Expression.
26321041 2015 SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.
26310624 2015 Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.
26295339 2015 FBG1 Is the Final Arbitrator of A1AT-Z Degradation.
More...