Tbio SERPINA1 Alpha-1-antitrypsin

Protein Summary

Description

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. Short peptide from AAT: 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). 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]

Uniprot Accession IDs

• P01009
• A6PX14
• B2RDQ8
• Q0PVP5
• Q13672
• Q53XB8
• Q5U0M1
• Q7M4R2
• Q86U18
• Q86U19
• Q96BF9
• Q96ES1
• Q9P1P0
• Q9UCE6
• Q9UCM3

Gene Name

• SERPINA1

Ensembl ID

• ENST00000355814
• ENSP00000348068
• ENSG00000197249
• ENST00000393087
• ENSP00000376802
• ENST00000393088
• ENSP00000376803
• ENST00000402629
• ENSP00000386094
• ENST00000404814
• ENSP00000385960
• ENST00000437397
• ENSP00000408474
• ENST00000440909
• ENSP00000390299
• ENST00000448921
• ENSP00000416066
• ENST00000449399
• ENSP00000416354
• ENST00000489769
• ENSP00000451525
• ENST00000636712
• ENSP00000490054

Symbol

• AAT
• PI
• PI
• A1A
• AAT
• PI1
• A1AT
• nNIF
• PRO2275
• alpha1AT

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.95
kinase perturbation	0.88
cellular component	0.86
small molecule perturbation	0.83
gene perturbation	0.76

Protein Classes

PANTHER Classes

Protein / Enzyme Modulator / Protease Inhibitor / Serine Protease Inhibitor / Alpha-1-antitrypsin

DTO Classes

Protein / Enzyme Modulator / Protease Inhibitor / Serine Protease Inhibitor / Alpha-1-antitrypsin

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 7852.95   (req: < 5)

Gene RIFs: 363   (req: <= 3)

Antibodies: 1506   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 7852.95   (req: >= 5)

Gene RIFs: 363   (req: > 3)

Antibodies: 1506   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (387)

Explore Interacting Targets

1 – 10 of 387

• See Interactions on String-DB

DDX31

Tbio

Family:  Enzyme

Novelty:  2.84646195

p_int:  0.999995172

p_ni:  0.000004828

Data Source:  BioPlex

MAPK6

Tchem

Family:  Kinase

Novelty:  0.01012514

p_int:  0.999992378

p_ni:  0.000007622

Data Source:  BioPlex

SNX27

Tbio

Novelty:  0.02419724

p_int:  0.999822112

p_ni:  0.000177888

Data Source:  BioPlex

CA8

Tbio

Family:  Enzyme

Novelty:  0.0041859

p_int:  0.999795787

p_ni:  0.000204213

Score:  0.151

Data Source:  BioPlex,STRINGDB

DDX19B

Tbio

Family:  Enzyme

Novelty:  0.0504568

p_int:  0.999697321

p_ni:  0.000302675

p_wrong:  4e-9

Data Source:  BioPlex

ICE2

Tbio

Novelty:  0.03407933

p_int:  0.999387966

p_ni:  0.000612023

p_wrong:  1.1e-8

Score:  0.186

Data Source:  BioPlex,STRINGDB

GDPD1

Tbio

Family:  Enzyme

Novelty:  0.28722153

p_int:  0.998343119

p_ni:  0.001656881

Data Source:  BioPlex

GOT1L1

Tdark

Family:  Enzyme

Novelty:  0.52342415

p_int:  0.996449865

p_ni:  0.003527778

p_wrong:  0.000022357

Score:  0.207

Data Source:  BioPlex,STRINGDB

HSPA8

Tchem

Novelty:  0.00081014

p_int:  0.99187369

p_ni:  0.008126248

p_wrong:  6.2e-8

Score:  0.214

Data Source:  BioPlex,STRINGDB

ALDH2

Tclin

Family:  Enzyme

Novelty:  0.00077122

p_int:  0.991679777

p_ni:  0.008320109

p_wrong:  1.14e-7

Score:  0.273

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets (1)

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Downstream (1)

1 – 1 of 1

PLG

Tclin

Family:  Enzyme

KEGG Distance:  1

Common Pathways:  1

1: Complement and coagulation cascades

Pathways (49)

Reactome (18)

KEGG (1)

PathwayCommons (3)

WikiPathways (27)

Asparagine N-linked glycosylation (R-HSA-446203)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Reactome	COPII-mediated vesicle transport	68 targets	R-HSA-204005
Reactome	Cargo concentration in the ER	33 targets	R-HSA-5694530
Reactome	ER to Golgi Anterograde Transport	136 targets	R-HSA-199977
Reactome	Hemostasis	666 targets	R-HSA-109582

Name	Explore in Pharos	Explore in Source
Asparagine N-linked glycosylation	286 targets	R-HSA-446203
COPII-mediated vesicle transport	68 targets	R-HSA-204005
Cargo concentration in the ER	33 targets	R-HSA-5694530
ER to Golgi Anterograde Transport	136 targets	R-HSA-199977
Hemostasis	666 targets	R-HSA-109582

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (25)

Functions (3)

Components (13)

Processes (9)

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1 – 3 of 3

GO Term	Evidence	Assigned by
serine-type endopeptidase inhibitor activity	Inferred from Direct Assay (IDA)	MGI
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct
protease binding	Inferred from Physical Interaction (IPI)	UniProtKB

Disease Associations (null)

No disease associations found

GWAS Traits (68)

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 5 of 68

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
testosterone measurement	EFO_0004908	7	4	10	1.5	97.8
serum alanine aminotransferase measurement	EFO_0004735	4	2	3	6.9	97
blood protein measurement	EFO_0007937	20	12	23	1.1	96.8
low density lipoprotein cholesterol measurement	EFO_0004611	10	4	11		96.8
alpha fetoprotein measurement	EFO_0010583	1	3	3		95.5

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
testosterone measurement	EFO_0004908	10	1.5	97.8
serum alanine aminotransferase measurement	EFO_0004735	3	6.9	97
blood protein measurement	EFO_0007937	23	1.1	96.8
low density lipoprotein cholesterol measurement	EFO_0004611	11		96.8
alpha fetoprotein measurement	EFO_0010583	3		95.5

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acute phase
Alternative splicing
Blood coagulation
Complete proteome
Direct protein sequencing
Endoplasmic reticulum
Extracellular matrix
Glycoprotein
Hemostasis

GWAS Trait Find Similar Targets

No Header	No Header
3-hydroxybutyrate measurement
age at first sexual intercourse measurement
alcohol consumption measurement
alcohol use disorder measurement
alcoholic liver cirrhosis
alkaline phosphatase measurement
alpha fetoprotein measurement
alpha-1-antitrypsin measurement
amino acid measurement
anti-neutrophil antibody associated vasculitis

MGI Phenotype Find Similar Targets

No Header	No Header
mortality/aging

IDG Resources

No IDG generated resources found

Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	serpin family A member 1		467541
Macaque	serpin family A member 1		701361
Mouse	serine (or cysteine) peptidase inhibitor, clade A, member 1E	MGI:891967	20704
Mouse	serine (or cysteine) peptidase inhibitor, clade A, member 1C	MGI:891969	20702
Rat	serpin family A member 1	RGD:3326	24648

Species	Name	OMA	EggNOG	Inparanoid
Chimp	serpin family A member 1
Macaque	serpin family A member 1
Mouse	serine (or cysteine) peptidase inhibitor, clade A, member 1E
Mouse	serine (or cysteine) peptidase inhibitor, clade A, member 1C
Rat	serpin family A member 1

Publication Statistics

PubMed Score 7852.95

PubMed score by year

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PubTator Score 6647.99

PubTator score by year

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Related Publications

Text Mined References (537)

GeneRif Annotations (363)

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PMID	Year	Title