Human Gene SERPINA1 (ENST00000393087.9) from GENCODE V44
  Description: Homo sapiens serpin family A member 1 (SERPINA1), transcript variant 1, mRNA. (from RefSeq NM_000295)
RefSeq Summary (NM_000295): The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000393087.9
Gencode Gene: ENSG00000197249.14
Transcript (Including UTRs)
   Position: hg38 chr14:94,376,747-94,388,602 Size: 11,856 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr14:94,378,449-94,383,237 Size: 4,789 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:94,376,747-94,388,602)mRNA (may differ from genome)Protein (418 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: A1AT_HUMAN
DESCRIPTION: RecName: Full=Alpha-1-antitrypsin; AltName: Full=Alpha-1 protease inhibitor; AltName: Full=Alpha-1-antiproteinase; AltName: Full=Serpin A1; Contains: RecName: Full=Short peptide from AAT; Short=SPAAT; Flags: Precursor;
FUNCTION: Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.
FUNCTION: Short peptide from AAT (SPAAT) is a reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE).
INTERACTION: P00760:- (xeno); NbExp=3; IntAct=EBI-986224, EBI-986385; P00772:CELA1 (xeno); NbExp=2; IntAct=EBI-986224, EBI-986248; P71213:espB (xeno); NbExp=3; IntAct=EBI-986224, EBI-2615322;
SUBCELLULAR LOCATION: Secreted.
SUBCELLULAR LOCATION: Short peptide from AAT: Secreted, extracellular space, extracellular matrix.
TISSUE SPECIFICITY: Plasma.
DOMAIN: The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable.
PTM: N-glycosylated. Differential glycosylation produces a number of isoforms. N-linked glycan at Asn-107 is alternatively di- antennary, tri-antennary or tetra-antennary. The glycan at Asn-70 is di-antennary with trace amounts of tri-antennary. Glycan at Asn-271 is exclusively di-antennary. Structure of glycans at Asn- 70 and Asn-271 is Hex5HexNAc4. The structure of the antennae is Neu5Ac(alpha1-6)Gal(beta1-4)GlcNAc attached to the core structure Man(alpha1-6)[Man(alpha1-3)]Man(beta1-4)GlcNAc(beta1-4)GlcNAc. Some antennae are fucosylated, which forms a Lewis-X determinant.
PTM: Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-418.
POLYMORPHISM: The sequence shown is that of the M1V allele which is the most common form of PI (44 to 49%). Other frequent alleles are: M1A 20 to 23%; M2 10 to 11%; M3 14 to 19%.
DISEASE: Defects in SERPINA1 are the cause of alpha-1-antitrypsin deficiency (A1ATD) [MIM:613490]. A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.
MISCELLANEOUS: The aberrant form is found in the plasma of chronic smokers, and persists after smoking is ceased. It can still be found ten years after smoking has ceased.
SIMILARITY: Belongs to the serpin family.
SEQUENCE CAUTION: Sequence=CAD62334.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAD62585.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPINA1";
WEB RESOURCE: Name=Wikipedia; Note=Alpha-1 antitrypsin entry; URL="http://en.wikipedia.org/wiki/Alpha_1-antitrypsin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SERPINA1
Diseases sorted by gene-association score: emphysema due to aat deficiency* (1275), hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation* (750), alpha 1-antitrypsin deficiency* (577), liver disease (58), pulmonary disease, chronic obstructive* (39), pulmonary emphysema (37), viral meningitis (25), plasma protein metabolism disease (20), panniculitis (19), fibromuscular dysplasia (18), congenital disorder of glycosylation, type ib (18), pneumothorax (16), pancreatoblastoma (16), nodular nonsuppurative panniculitis (16), liver cirrhosis (16), malignant choroid melanoma (15), mucinous cystadenofibroma (15), mental retardation, x-linked, fraxe type (14), endodermal sinus tumor (14), lung disease (13), malignant fibroxanthoma (12), bronchitis (12), bronchiectasis (12), anca-associated vasculitis (11), polyembryoma (10), acinar cell carcinoma (10), viral hepatitis (9), congenital granular cell tumor (9), asbestosis (9), byssinosis (9), wegener granulomatosis (8), boutonneuse fever (8), fragile x syndrome (8), hepatitis a (8), siderosis (7), acinar cell cystadenocarcinoma (7), polyposis, skin pigmentation, alopecia, and fingernail changes (7), adult xanthogranuloma (7), radial neuropathy (7), vasculitis (7), phacolytic glaucoma (7), protein-losing enteropathy (7), constrictive pericarditis (7), granulosa cell tumor of the ovary (7), subendocardial myocardial infarction (6), parasitic ichthyosporea infectious disease (6), rhinosporidiosis (6), secretory meningioma (6), inflammatory mfh (6), hepatic tuberculosis (6), reticulohistiocytic granuloma (5), ovarian endodermal sinus tumor (5), cutaneous solitary mastocytoma (5), ovarian primitive germ cell tumor (5), retinitis pigmentosa 7 and digenic (5), mycobacterium abscessus (5), allergic urticaria (5), pancreatic cystadenocarcinoma (5), rhinoscleroma (5), geniculate herpes zoster (5), inherited metabolic disorder (5), cystadenofibroma (5), holoprosencephaly 1 (5), ancylostomiasis (5), congenital disorder of glycosylation, type ii (4), testicular yolk sac tumor (4), hennekam syndrome (4), respiratory system disease (4), epileptic encephalopathy, early infantile, 36 (4), diphyllobothriasis (4), cystic fibrosis (4), diffuse pulmonary fibrosis (4), lipid-rich carcinoma (4), histidinemia (4), histidine metabolism disease (4), transient arthritis (4), fibrosarcoma of bone (4), carotid artery dissection (4), cholesterol ester storage disease (4), hemochromatosis (4), tricuspid valve stenosis (3), in situ pulmonary adenocarcinoma (3), fructose intolerance, hereditary (3), hepatocellular carcinoma (3), gastrointestinal system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3741.40 RPKM in Liver
Total median expression: 4664.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.3047-0.198 Picture PostScript Text
3' UTR -563.101702-0.331 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023795 - Protease_inhib_I4_serpin_CS
IPR023796 - Serpin_dom
IPR000215 - Serpin_fam

Pfam Domains:
PF00079 - Serpin (serine protease inhibitor)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1ATU - X-ray MuPIT 1D5S - X-ray MuPIT 1EZX - X-ray MuPIT 1HP7 - X-ray MuPIT 1IZ2 - X-ray MuPIT 1KCT - X-ray MuPIT 1OO8 - X-ray MuPIT 1OPH - X-ray MuPIT 1PSI - X-ray MuPIT 1QLP - X-ray MuPIT 1QMB - X-ray 2D26 - X-ray MuPIT 2QUG - X-ray MuPIT 3CWL - X-ray MuPIT 3CWM - X-ray MuPIT 3DRM - X-ray MuPIT 3DRU - X-ray MuPIT 3NDD - X-ray MuPIT 3NDF - X-ray MuPIT 3NE4 - X-ray MuPIT 3T1P - X-ray MuPIT 7API - X-ray MuPIT 8API - X-ray 9API - X-ray


ModBase Predicted Comparative 3D Structure on P01009
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0030414 peptidase inhibitor activity
GO:0042802 identical protein binding

Biological Process:
GO:0002576 platelet degranulation
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006953 acute-phase response
GO:0007596 blood coagulation
GO:0007599 hemostasis
GO:0010466 negative regulation of peptidase activity
GO:0010951 negative regulation of endopeptidase activity
GO:0043312 neutrophil degranulation
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0048208 COPII vesicle coating

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0030134 ER to Golgi transport vesicle
GO:0031093 platelet alpha granule lumen
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  AF113676 - Homo sapiens clone FLB2803 PRO0684 mRNA, complete cds.
JC537036 - Sequence 6 from Patent EP2699680.
LQ717392 - Sequence 6 from Patent EP3318634.
LQ718346 - Sequence 6 from Patent EP3318635.
JC537037 - Sequence 7 from Patent EP2699680.
JC537038 - Sequence 8 from Patent EP2699680.
JC537039 - Sequence 9 from Patent EP2699680.
JC537040 - Sequence 10 from Patent EP2699680.
JC537041 - Sequence 11 from Patent EP2699680.
JC537042 - Sequence 12 from Patent EP2699680.
JC537043 - Sequence 13 from Patent EP2699680.
JC537044 - Sequence 14 from Patent EP2699680.
JC537045 - Sequence 15 from Patent EP2699680.
JC537046 - Sequence 16 from Patent EP2699680.
LQ717393 - Sequence 7 from Patent EP3318634.
LQ717394 - Sequence 8 from Patent EP3318634.
LQ717395 - Sequence 9 from Patent EP3318634.
LQ717396 - Sequence 10 from Patent EP3318634.
LQ717397 - Sequence 11 from Patent EP3318634.
LQ717398 - Sequence 12 from Patent EP3318634.
LQ717399 - Sequence 13 from Patent EP3318634.
LQ717400 - Sequence 14 from Patent EP3318634.
LQ717401 - Sequence 15 from Patent EP3318634.
LQ717402 - Sequence 16 from Patent EP3318634.
LQ718347 - Sequence 7 from Patent EP3318635.
LQ718348 - Sequence 8 from Patent EP3318635.
LQ718349 - Sequence 9 from Patent EP3318635.
LQ718350 - Sequence 10 from Patent EP3318635.
LQ718351 - Sequence 11 from Patent EP3318635.
LQ718352 - Sequence 12 from Patent EP3318635.
LQ718353 - Sequence 13 from Patent EP3318635.
LQ718354 - Sequence 14 from Patent EP3318635.
LQ718355 - Sequence 15 from Patent EP3318635.
LQ718356 - Sequence 16 from Patent EP3318635.
BC015642 - Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1, mRNA (cDNA clone MGC:23330 IMAGE:4644658), complete cds.
BC070163 - Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1, mRNA (cDNA clone IMAGE:4733519).
LF655831 - JP 2016520312-A/79: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655832 - JP 2016520312-A/80: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176899 - KR 1020160011660-A/83: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176900 - KR 1020160011660-A/84: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
X02920 - Human mRNA for alpha 1-antitrypsin carboxyterminal region (aa 268-394).
M11465 - Human alpha-1-antitrypsin mRNA, complete cds.
BX248002 - human full-length cDNA clone CS0DM003YH10 of Fetal liver of Homo sapiens (human).
K01396 - Human alpha-1-antitrypsin mRNA, complete cds.
X01683 - Human mRNA for alpha 1-antitrypsin.
E00195 - cDNA encoding human antitrypsin.
E00631 - DNA encoding human alpha-1 antitrypsin mutain.
AK026174 - Homo sapiens cDNA: FLJ22521 fis, clone HRC12386, highly similar to AF113676 Homo sapiens clone FLB2803 PRO0684 mRNA.
AF130068 - Homo sapiens clone FLB8226 PRO2209 mRNA, complete cds.
BC011991 - Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1, mRNA (cDNA clone MGC:9222 IMAGE:3859644), complete cds.
GQ891404 - Homo sapiens clone HEL-S-122 epididymis secretory sperm binding protein mRNA, complete cds.
LF655823 - JP 2016520312-A/71: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655824 - JP 2016520312-A/72: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176891 - KR 1020160011660-A/75: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176892 - KR 1020160011660-A/76: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655859 - JP 2016520312-A/107: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655860 - JP 2016520312-A/108: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176927 - KR 1020160011660-A/111: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176928 - KR 1020160011660-A/112: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
BX161449 - human full-length cDNA clone CS0DI028YP15 of Placenta of Homo sapiens (human).
BX247968 - human full-length cDNA clone CS0DE007YP21 of Placenta of Homo sapiens (human).
JD191109 - Sequence 172133 from Patent EP1572962.
V00496 - Human messenger RNA for alpha-1-antitrypsin (serine protease inhibitor).
A14743 - H.sapiens mRNA for antitrypsin-alpha 1 (partial).
JD246218 - Sequence 227242 from Patent EP1572962.
M26123 - Human alpha-1-antitrypsin (alpha-1-AT) mRNA, 3' end.
JD412281 - Sequence 393305 from Patent EP1572962.
JD241187 - Sequence 222211 from Patent EP1572962.
GU727620 - Homo sapiens epididymis secretory sperm binding protein Li 44a mRNA, complete cds.
DQ682455 - Homo sapiens alpha-1 antitrypsin variant (AAT) mRNA, complete cds, alternatively spliced.
HW649497 - JP 2014523411-A/5: LIPID NANOPARTICLE COMPOSITIONS AND METHODS FOR MRNA DELIVERY.
JB074622 - Sequence 5 from Patent WO2012170930.
JC537035 - Sequence 5 from Patent EP2699680.
JC570531 - Sequence 5 from Patent WO2014089486.
LQ717391 - Sequence 5 from Patent EP3318634.
LQ718345 - Sequence 5 from Patent EP3318635.
MA155779 - JP 2017014278-A/5: LIPID NANOPARTICLE COMPOSITIONS AND METHODS FOR MRNA DELIVERY.
KU535895 - Homo sapiens alpha-1-antitrypsin short transcript variant 1C4 (SERPINA1) mRNA, complete cds, alternatively spliced.
KU535894 - Homo sapiens alpha-1-antitrypsin short transcript variant 1C5 (SERPINA1) mRNA, complete cds, alternatively spliced.
KU755450 - Homo sapiens serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1 (SERPINA1) mRNA, complete cds, alternatively spliced.
KU755451 - Homo sapiens serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1 (SERPINA1) mRNA, complete cds, alternatively spliced.
AK315637 - Homo sapiens cDNA, FLJ96724, highly similar to Homo sapiens serine (or cysteine) proteinase inhibitor, clade A(alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), mRNA.
BT019455 - Homo sapiens serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 mRNA, complete cds.
HQ448245 - Synthetic construct Homo sapiens clone IMAGE:100071646; CCSB000571_01 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) gene, encodes complete protein.
KJ897327 - Synthetic construct Homo sapiens clone ccsbBroadEn_06721 SERPINA1 gene, encodes complete protein.
AB527565 - Synthetic construct DNA, clone: pF1KB6637, Homo sapiens SERPINA1 gene for serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1, without stop codon, in Flexi system.
KU178257 - Homo sapiens serpin peptidase inhibitor clade A member 1 isoform 1 (SERPINA1) mRNA, partial cds.
KU178258 - Homo sapiens serpin peptidase inhibitor clade A member 1 isoform 2 (SERPINA1) mRNA, partial cds, alternatively spliced.
LF655855 - JP 2016520312-A/103: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655856 - JP 2016520312-A/104: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176923 - KR 1020160011660-A/107: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176924 - KR 1020160011660-A/108: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655813 - JP 2016520312-A/61: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655814 - JP 2016520312-A/62: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176881 - KR 1020160011660-A/65: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176882 - KR 1020160011660-A/66: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655809 - JP 2016520312-A/57: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655810 - JP 2016520312-A/58: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176877 - KR 1020160011660-A/61: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176878 - KR 1020160011660-A/62: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655795 - JP 2016520312-A/43: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655796 - JP 2016520312-A/44: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176863 - KR 1020160011660-A/47: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176864 - KR 1020160011660-A/48: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655839 - JP 2016520312-A/87: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655840 - JP 2016520312-A/88: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176907 - KR 1020160011660-A/91: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176908 - KR 1020160011660-A/92: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655819 - JP 2016520312-A/67: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655820 - JP 2016520312-A/68: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176887 - KR 1020160011660-A/71: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176888 - KR 1020160011660-A/72: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655791 - JP 2016520312-A/39: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655792 - JP 2016520312-A/40: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176859 - KR 1020160011660-A/43: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176860 - KR 1020160011660-A/44: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655797 - JP 2016520312-A/45: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655798 - JP 2016520312-A/46: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176865 - KR 1020160011660-A/49: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176866 - KR 1020160011660-A/50: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655801 - JP 2016520312-A/49: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655802 - JP 2016520312-A/50: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176869 - KR 1020160011660-A/53: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176870 - KR 1020160011660-A/54: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655807 - JP 2016520312-A/55: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655808 - JP 2016520312-A/56: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176875 - KR 1020160011660-A/59: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176876 - KR 1020160011660-A/60: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655799 - JP 2016520312-A/47: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655800 - JP 2016520312-A/48: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176867 - KR 1020160011660-A/51: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176868 - KR 1020160011660-A/52: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655811 - JP 2016520312-A/59: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655812 - JP 2016520312-A/60: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176879 - KR 1020160011660-A/63: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176880 - KR 1020160011660-A/64: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655817 - JP 2016520312-A/65: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655818 - JP 2016520312-A/66: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176885 - KR 1020160011660-A/69: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176886 - KR 1020160011660-A/70: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655847 - JP 2016520312-A/95: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655848 - JP 2016520312-A/96: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176915 - KR 1020160011660-A/99: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176916 - KR 1020160011660-A/100: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655861 - JP 2016520312-A/109: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655862 - JP 2016520312-A/110: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176929 - KR 1020160011660-A/113: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176930 - KR 1020160011660-A/114: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
FJ830375 - Homo sapiens alpha-1-antitrypsin null variant (AAT) mRNA, partial cds.
BX248257 - human full-length cDNA clone CS0DM003YH14 of Fetal liver of Homo sapiens (human).
X17122 - Human mRNA for alpha-1 antitrypsin variant.
LF655821 - JP 2016520312-A/69: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655822 - JP 2016520312-A/70: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176889 - KR 1020160011660-A/73: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176890 - KR 1020160011660-A/74: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655827 - JP 2016520312-A/75: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655828 - JP 2016520312-A/76: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176895 - KR 1020160011660-A/79: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176896 - KR 1020160011660-A/80: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
CU680152 - Synthetic construct Homo sapiens gateway clone IMAGE:100017223 5' read SERPINA1 mRNA.
LF655849 - JP 2016520312-A/97: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655850 - JP 2016520312-A/98: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176917 - KR 1020160011660-A/101: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176918 - KR 1020160011660-A/102: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655843 - JP 2016520312-A/91: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655844 - JP 2016520312-A/92: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176911 - KR 1020160011660-A/95: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176912 - KR 1020160011660-A/96: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655803 - JP 2016520312-A/51: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655804 - JP 2016520312-A/52: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176871 - KR 1020160011660-A/55: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176872 - KR 1020160011660-A/56: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655863 - JP 2016520312-A/111: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655864 - JP 2016520312-A/112: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176931 - KR 1020160011660-A/115: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176932 - KR 1020160011660-A/116: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655853 - JP 2016520312-A/101: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655854 - JP 2016520312-A/102: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176921 - KR 1020160011660-A/105: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176922 - KR 1020160011660-A/106: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655805 - JP 2016520312-A/53: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655806 - JP 2016520312-A/54: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176873 - KR 1020160011660-A/57: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176874 - KR 1020160011660-A/58: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655815 - JP 2016520312-A/63: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655816 - JP 2016520312-A/64: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176883 - KR 1020160011660-A/67: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176884 - KR 1020160011660-A/68: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655829 - JP 2016520312-A/77: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655830 - JP 2016520312-A/78: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176897 - KR 1020160011660-A/81: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176898 - KR 1020160011660-A/82: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655835 - JP 2016520312-A/83: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655836 - JP 2016520312-A/84: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176903 - KR 1020160011660-A/87: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176904 - KR 1020160011660-A/88: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655871 - JP 2016520312-A/119: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655872 - JP 2016520312-A/120: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176939 - KR 1020160011660-A/123: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176940 - KR 1020160011660-A/124: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655873 - JP 2016520312-A/121: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655874 - JP 2016520312-A/122: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176941 - KR 1020160011660-A/125: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176942 - KR 1020160011660-A/126: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655825 - JP 2016520312-A/73: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655826 - JP 2016520312-A/74: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176893 - KR 1020160011660-A/77: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176894 - KR 1020160011660-A/78: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655851 - JP 2016520312-A/99: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655852 - JP 2016520312-A/100: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176919 - KR 1020160011660-A/103: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176920 - KR 1020160011660-A/104: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655837 - JP 2016520312-A/85: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655838 - JP 2016520312-A/86: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176905 - KR 1020160011660-A/89: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176906 - KR 1020160011660-A/90: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
JD025794 - Sequence 6818 from Patent EP1572962.
JD035048 - Sequence 16072 from Patent EP1572962.
LF655869 - JP 2016520312-A/117: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655870 - JP 2016520312-A/118: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176937 - KR 1020160011660-A/121: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176938 - KR 1020160011660-A/122: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655845 - JP 2016520312-A/93: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655846 - JP 2016520312-A/94: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176913 - KR 1020160011660-A/97: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176914 - KR 1020160011660-A/98: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655857 - JP 2016520312-A/105: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655858 - JP 2016520312-A/106: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176925 - KR 1020160011660-A/109: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176926 - KR 1020160011660-A/110: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655833 - JP 2016520312-A/81: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655834 - JP 2016520312-A/82: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176901 - KR 1020160011660-A/85: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176902 - KR 1020160011660-A/86: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655875 - JP 2016520312-A/123: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655876 - JP 2016520312-A/124: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176943 - KR 1020160011660-A/127: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176944 - KR 1020160011660-A/128: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655789 - JP 2016520312-A/37: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LF655790 - JP 2016520312-A/38: SERPINA1 IRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176857 - KR 1020160011660-A/41: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
LG176858 - KR 1020160011660-A/42: SERPINA1 iRNA COMPOSITIONS AND METHODS OF USE THEREOF.
JD451411 - Sequence 432435 from Patent EP1572962.
X05826 - Human macrophage alpha1-antitrypsin (alpha1-AT) mRNA 5'-end (L17).
X05827 - Human macrophage alpha1-antitrypsin (alpha1-AT) mRNA 5'-end (L25).
JD131787 - Sequence 112811 from Patent EP1572962.
JD470122 - Sequence 451146 from Patent EP1572962.
MA890448 - JP 2017203045-A/5: LIPID NANOPARTICLE COMPOSITIONS AND METHODS FOR MRNA DELIVERY.
LY694919 - KR 1020190042660-A/6: CHEMICALLY MODIFIED SINGLE-STRANDED RNA-EDITING OLIGONUCLEOTIDES.
LY694914 - KR 1020190042660-A/1: CHEMICALLY MODIFIED SINGLE-STRANDED RNA-EDITING OLIGONUCLEOTIDES.
MP440718 - Sequence 5 from Patent EP3586861.
MP559899 - Sequence 5 from Patent EP3628335.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04610 - Complement and coagulation cascades

Reactome (by CSHL, EBI, and GO)

Protein P01009 (Reactome details) participates in the following event(s):

R-HSA-481007 Exocytosis of platelet alpha granule contents
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-5694428 LMAN family proteins bind glycosylated cargo
R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-5694522 Inner coat assembly and cargo binding
R-HSA-5694527 Loss of SAR1B GTPase
R-HSA-5694446 BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle
R-HSA-5694417 SEC16 complex binds SAR1B:GTP:SEC23:SEC24
R-HSA-5694441 CSNK1D phosphorylates SEC23
R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP
R-HSA-203973 Vesicle budding
R-HSA-204008 SEC31:SEC13 and v-SNARE recruitment
R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2
R-HSA-5694409 Nucleotide exchange on RAB1
R-HSA-114608 Platelet degranulation
R-HSA-6798695 Neutrophil degranulation
R-HSA-5694530 Cargo concentration in the ER
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-168249 Innate Immune System
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-168256 Immune System
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-109582 Hemostasis
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation

-  Other Names for This Gene
  Alternate Gene Symbols: A1AT_HUMAN, A6PX14, AAT, B2RDQ8, ENST00000393087.1, ENST00000393087.2, ENST00000393087.3, ENST00000393087.4, ENST00000393087.5, ENST00000393087.6, ENST00000393087.7, ENST00000393087.8, NM_000295, P01009, PI, PRO0684, PRO2209, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3, uc001ycx.1, uc001ycx.2, uc001ycx.3, uc001ycx.4, uc001ycx.5, uc001ycx.6
UCSC ID: ENST00000393087.9
RefSeq Accession: NM_000295
Protein: P01009 (aka A1AT_HUMAN)
CCDS: CCDS9925.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SERPINA1:
alpha1-a (Alpha-1 Antitrypsin Deficiency)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.