• Gene id: 5265

Gene Summary

• Gene Symbol: SERPINA1   Gene   UCSC   Ensembl
• Aliases: A1A, A1AT, AAT, PI, PI1, PRO2275, alpha1AT, nNIF
• Gene name: serpin family A member 1
• Alternate names: alpha-1-antitrypsin, alpha-1 antitrypsin, alpha-1 protease inhibitor, alpha-1-antiproteinase, alpha-1-antitrypsin null, alpha-1-antitrypsin short transcript variant 1C4, alpha-1-antitrypsin short transcript variant 1C5, protease inhibitor 1 (anti-elastase,
• Gene location: 14q32.13 (94390691: 94376746)     Exons: 7     NC_000014.9
• Gene summary(Entrez): 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 transcr
• OMIM: 107400

Protein Summary

• Protein general information: P01009  
  • Name: Alpha 1 antitrypsin (Alpha 1 protease inhibitor) (Alpha 1 antiproteinase) (Serpin A1) [Cleaved into: Short peptide from AAT (SPAAT)]
  • Length: 418  
  • Mass: 46737
  • Tissue specificity: Ubiquitous. Expressed in leukocytes and plasma. {ECO
• Sequence:

  MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIF
  FSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKL
  VDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVK
  DTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFL
  ENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKAVLTIDEKGTEAAGAM
  FLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK

• Structural information:
  • Interpro: IPR023795  IPR023796  IPR000215  IPR036186  IPR042178   IPR042185  
  • Prosite: PS00284
  • PDB: 1ATU 1D5S 1EZX 1HP7 1IZ2 1KCT 1OO8 1OPH 1PSI 1QLP 1QMB 2D26 2QUG 3CWL 3CWM 3DRM 3DRU 3NDD 3NDF 3NE4 3T1P 4PYW 5IO1 5NBU 5NBV 6HX4 6I4V 6I7U 6IAY 7API 8API 9API
  • PDBsum: 1ATU 1D5S 1EZX 1HP7 1IZ2 1KCT 1OO8 1OPH 1PSI 1QLP 1QMB 2D26 2QUG 3CWL 3CWM 3DRM 3DRU 3NDD 3NDF 3NE4 3T1P 4PYW 5IO1 5NBU 5NBV 6HX4 6I4V 6I7U 6IAY 7API 8API 9API
  • DIP: 35493
  • STRING: ENSP00000416066
• Other Databases: GeneCards:  SERPINA1  Malacards:  SERPINA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IEA	cellular component
GO:0001948	glycoprotein binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IMP	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0006953	acute-phase response	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0001948	glycoprotein binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IMP	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0006953	acute-phase response	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0001948	glycoprotein binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IMP	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	ER to Golgi transport vesicle	TAS	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007599	hemostasis	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0006953	acute-phase response	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	TAS	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005615	extracellular space	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Cancer	GAD: 19853488
Cancer (colorectal)	GAD: 19853488
Cancer (Hepatocellular)	GAD: 18164971
Cancer (lung)	GAD: 16971227
Atherosclerosis	GAD: 19948975
Cardiovascular disease	GAD: 11887471
Fibromuscular dysplasia	GAD: 16531799
Hemochromatosis	GAD: 3486552
Cystic fibrosis	GAD: 12689922
Liver disease	GAD: 11131449
Sarcoidosis	GAD: 16608528
Asthma	GAD: 11295654
Rheumatoid arthritis	GAD: 2786461
Psoriasis	GAD: 6155027
Stroke	GAD: 16179568
Alzheimer's disease	GAD: 14523999
Pregnancy loss	GAD: 19628210
Follicular development	INFBASE: 25595538
Polycystic ovary syndrome (PCOS)	INFBASE: 22904171
Female infertility	INFBASE: 25595538
Male factor infertility	MIK: 10526649
Lung disease	GAD: 15271689
Pulmonary emphysema	GAD: 21067581
Chronic obstructive pulmonary disease (COPD)	KEGG: H01714
Alpha 1-antitrypsin deficiency	GAD: 20226649
Bronchiectasis	GAD: 12528263
Peyronie's disease	GAD: 15474273
Alpha-1-antitrypsin deficiency	KEGG:H01103
Chronic obstructive pulmonary disease	KEGG:H01714
Alpha-1-antitrypsin deficiency	KEGG:H01103
Chronic obstructive pulmonary disease	KEGG:H01714
Pre-eclampsia	PMID:1852102
Hypertension	PMID:10353322
Alpha 1-antitrypsin deficiency	PMID:29641323
pancreatic cancer	PMID:2323846
Arteriosclerosis	PMID:12692006
Chronic obstructive pulmonary disease	PMID:20298391
Coronary artery disease	PMID:7832094
pancreatic ductal carcinoma	PMID:12488200
Liver disease	PMID:19738092
Pulmonary hypertension	PMID:17444595
Osteoarthritis	PMID:20434574
colorectal cancer	PMID:24886427
Pulmonary emphysema	PMID:19941265
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 10526649
Male subfertility	MIK: 25248658
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
10526649	Male infertility				Male infertility
25248658	Male subfertility			126 (67 normozoospermia, 14 oligozoospermia, 25 asthenozoospermia, 20 oligoasthenozoospermia)	Male infertility	Fibronectin ?1 -acid glycoprotein ?1 -antitrypsin immunoglobulin G and antithrombin III
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R