Homo sapiens Gene: SERPINA1
Summary
InnateDB Gene IDBG-18174.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SERPINA1
Gene Name serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Synonyms A1A; A1AT; AAT; alpha1AT; PI; PI1; PRO2275;
Species Homo sapiens
Ensembl Gene ENSG00000197249
Encoded Proteins
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:94376747-94390693
Strand Reverse strand
Band q32.13
Transcripts
ENST00000355814 ENSP00000348068
ENST00000393088 ENSP00000376803
ENST00000393087 ENSP00000376802
ENST00000404814 ENSP00000385960
ENST00000402629 ENSP00000386094
ENST00000448921 ENSP00000416066
ENST00000437397 ENSP00000408474
ENST00000449399 ENSP00000416354
ENST00000440909 ENSP00000390299
ENST00000489769 ENSP00000451525
ENST00000554720 ENSP00000450561
ENST00000556091 ENSP00000452169
ENST00000557492 ENSP00000452452
ENST00000556955 ENSP00000451098
ENST00000553327 ENSP00000452480
ENST00000557118 ENSP00000451826
ENST00000555289
ENST00000557361
ENST00000557093
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 45 [view]
Protein-Protein 37 [view]
Protein-DNA 8 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001948 glycoprotein binding
GO:0002020 protease binding
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0042802 identical protein binding
Biological Process
GO:0002576 platelet degranulation
GO:0006953 acute-phase response
GO:0007596 blood coagulation
GO:0010951 negative regulation of endopeptidase activity
GO:0030162 regulation of proteolysis
GO:0030168 platelet activation
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0031093 platelet alpha granule lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
REACTOME
Platelet degranulation pathway
Platelet activation, signaling and aggregation pathway
Response to elevated platelet cytosolic Ca2+ pathway
Hemostasis pathway
KEGG
Complement and coagulation cascades pathway
INOH
PID BIOCARTA
PID NCI
p73 transcription factor network
FOXA1 transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.525557
RefSeq NM_000295 NM_001002235 NM_001002236 NM_001127700 NM_001127701 NM_001127702 NM_001127703 NM_001127704 NM_001127705 NM_001127706 NM_001127707
HUGO
OMIM
CCDS CCDS9925
HPRD 02463
IMGT
EMBL
GenPept
RNA Seq Atlas