SERPINA1: Polycystic Ovarian Syndrome Database

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SERPINA1

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

SERPINA1

Aliases

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

Entrez Gene ID

5265

Gene Name

Serpin family A member 1

Chromosomal Location

14q32.13

HGNC ID

HGNC:8941

Summary

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]

RefSeq DNA

NG_008290.1

RefSeq mRNA

NM_000295.5, NM_001002235.3, NM_001002236.3, NM_001127700.2, NM_001127701.2, NM_001127702.2, NM_001127703.2, NM_001127704.2, NM_001127705.2, NM_001127706.2, NM_001127707.2

e!Ensembl

Gene	ENSG00000277377, ENSG00000197249
Transcript	ENST00000627595, ENST00000628155, ENST00000627096, ENST00000627178, ENST00000627097, ENST00000625467, ENST00000629711, ENST00000629092, ENST00000626480, ENST00000631256, ENST00000625866, ENST00000618636, ENST00000620666, ENST00000614317, ENST00000440909, ENST00000393087, ENST00000489769, ENST00000636712, ENST00000393088, ENST00000404814, ENST00000449399, ENST00000402629, ENST00000554720, ENST00000556091, ENST00000557492, ENST00000556955, ENST00000553327, ENST00000557118, ENST00000437397, ENST00000448921, ENST00000355814
Protein	ENSP00000486067, ENSP00000487579, ENSP00000486957, ENSP00000486302, ENSP00000485908, ENSP00000486935, ENSP00000487269, ENSP00000486654, ENSP00000486117, ENSP00000486467, ENSP00000487293, ENSP00000480231, ENSP00000477615, ENSP00000479923, ENSP00000390299, ENSP00000376802, ENSP00000451525, ENSP00000490054, ENSP00000376803, ENSP00000385960, ENSP00000416354, ENSP00000386094, ENSP00000450561, ENSP00000452169, ENSP00000452452, ENSP00000451098, ENSP00000452480, ENSP00000451826, ENSP00000408474, ENSP00000416066, ENSP00000348068

Gene Ontology (GO)

Show/Hide all(16 )

GO ID	Ontology	Function	Evidence	Reference
GO:0010951	Biological process	Negative regulation of endopeptidase activity	IBA	21873635
GO:0005576	Cellular component	Extracellular region	NAS	14718574
GO:0005615	Cellular component	Extracellular space	HDA	16502470, 23580065
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0005615	Cellular component	Extracellular space	IDA	6980881, 25645918
GO:0005615	Cellular component	Extracellular space	IMP	16192646
GO:0005783	Cellular component	Endoplasmic reticulum	IDA	20477988, 23826168
GO:0005794	Cellular component	Golgi apparatus	IDA	20477988
GO:0062023	Cellular component	Collagen-containing extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 23533145
GO:0002020	Molecular function	Protease binding	IPI	15853774
GO:0004867	Molecular function	Serine-type endopeptidase inhibitor activity	IBA	21873635
GO:0004867	Molecular function	Serine-type endopeptidase inhibitor activity	IDA	15795238
GO:0004867	Molecular function	Serine-type endopeptidase inhibitor activity	NAS	12878203
GO:0005515	Molecular function	Protein binding	IPI	11057674, 12860985, 12878203, 15271889, 15845869, 16192646, 16321984, 17380188, 20477988, 22115549, 23826168
GO:0042802	Molecular function	Identical protein binding	IPI	11057674, 18923394, 21909074, 22405009

Protein Information

Protein Name

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, epididymis secretory sperm binding protein, protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin, serine (or cysteine) proteinase inhibitor, clade A, member 1, serpin A1, serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1, serpin peptidase inhibitor clade A member 1, serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

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.; [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)

Refseq Proteins

NP_000286.3, NP_001002235.1, NP_001002236.1, NP_001121172.1, NP_001121173.1, NP_001121174.1, NP_001121175.1, NP_001121176.1, NP_001121177.1, NP_001121178.1, NP_001121179.1

UniProt

P01009

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, 7API, 8API, 9API

Pathways
	KEGG	Reactome
	Complement and coagulation cascades	Platelet degranulation COPII-mediated vesicle transport Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Cargo concentration in the ER Neutrophil degranulation Post-translational protein phosphorylation

Interactions

STRING	MINT	IntAct
ENSP00000311127		P49765

View interactions

Associated Diseases

Show/Hide all(12 )

Disease group	Disease Name	References
Cardiovascular Diseases
	Vasculitis	1684994
	Arteriosclerosis	12692006
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	alpha 1-Antitrypsin Deficiency	22975760, 26141072, 27296815, 12034572, 24713750, 15978931, 1967187, 1889260, 18565211, 8364536, 19437508, 24969923, 2339709, 12220457, 8970361, 19654085, 23632999, 9070606, 23858502, 25181470, 6093867, 24328305, 6306478, 6600898, 2539391, 21474916, 2787118, 28492532, 22291048, 23891
	Genetic Diseases	6306478, 15115878, 18682522, 26310624, 23632999, 9041988
	Fragile X Syndrome	18414213
Digestive System Diseases
	Liver Fibrosis	20511674, 3485248, 25579632
	Liver Diseases	6600583, 5095241, 4117996, 3485248, 17659342, 17006946
	Liver Cirrhosis	3485248, 25579632, 20511674
	Cholestasis	24750955, 26126923, 26003074, 4117022
Endocrine System Diseases
Endocrine System Diseases	PCOS	29729850, 22935150
Immune System Diseases
	HIV Infections	17448989
	HIV Coinfection	17448989
Neoplasms
	Liver Cancer	6258829, 21472284
	Carcinoma	15378696
	Adenocarcinoma	15378696
	Cribriform Carcinoma	15378696
	Stomach Cancer	15378696
	Lung Cancer	17902193
	Gastric Cancer	15378696
Nervous System Diseases
Nervous System Diseases	Degenerative Diseases Central Nervous System	17659342
Nutritional and Metabolic Diseases
	Hypoglycemia	17659342
	Thiamine Deficiency	17659342
Psychiatric/Brain disorders
	Anxiety Disorders	17659342
	Bipolar Disorder	17659342, 16870258
	Mood Disorders	17659342, 16870258
	Manic Disorder	17659342
	Mental Depression	17659342
Renal Disorder
	Kidney Insufficiency	28885000
	Kidney Failure	28885000
Respiratory Tract Diseases
	Chronic Obstructive Pulmonary Disease	25579632, 16278826
	Emphysema	3485249
	Airway Obstruction	25579632, 16278826
	Pulmonary Fibrosis	72955, 12368052
	Pulmonary Emphysema	3485249
	Bronchiectasis	7785020
	Pulmonary asbestosis	12368052
Skin and Connective Tissue Diseases
Skin and Connective Tissue Diseases	Panniculitis	6982619, 3259592

References

Show/Hide all(1)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
22935150	CK-9, A1AT, CK-1, APOA-1, ATTR, DBP, HP, DRAM2, APOA-4, IL12-A, SIRT2, FGG, FGB, ZAG, RBP, A1BG, GLUT4, TF, SPTLC2, MAK	PCOS, increased risk of insulin resistance, abnormal glucose metabolism, type II diabetes, abnormal lipid metabolism, hyperinsulinemia		Rotterdam consensus criteria	Related	30 PCOS and 30 normal	Thirty-two protein spots were shown to be significantly differentially expressed between PCOS and normal follicular fluids, of which 20 unique proteins were identified to be associated with cellular metabolism and physiological processes; 13 of these proteins were upregulated while seven were downregulated in PCOS follicular fluids. Semiquantitative reverse transcription-polymerase chain reaction (RTPCR) analyses revealed that mRNA levels of serine palmitoyltransferase 2, serine/threonine-protein kinase male germ cell-associated kinase (MAK) and DNA damage-regulated autophagy modulator protein 2 decreased significantly in granulosa cells of PCOS patients compared with normal samples.