InnateDB Protein
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IDBP-244328.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SERPINA1
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Protein Name
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serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
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Synonyms
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A1A; A1AT; AAT; alpha1AT; PI; PI1; PRO2275;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000376802
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InnateDB Gene
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IDBG-18174 (SERPINA1)
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Protein Structure
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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).
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Subcellular Localization |
Secreted. Endoplasmic reticulum. Note=The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.Short peptide from AAT: Secreted, extracellular space, extracellular matrix.
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Disease Associations |
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. {ECO:0000269PubMed:1905728, ECO:0000269PubMed:2227940, ECO:0000269PubMed:2390072}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous. Expressed in leukocytes and plasma. {ECO:0000269PubMed:23826168}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
37
[view]
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Protein-DNA |
8
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR023796
Serpin domain
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PFAM |
PF00079
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PRINTS |
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PIRSF |
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SMART |
SM00093
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TIGRFAMs |
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Modification |
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SwissProt |
P01009
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PhosphoSite |
PhosphoSite-P01009
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TrEMBL |
Q3I0J7
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UniProt Splice Variant |
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Entrez Gene |
5265
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UniGene |
Hs.525557
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RefSeq |
NP_000286
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HUGO |
HGNC:8941
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OMIM |
107400
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CCDS |
CCDS9925
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HPRD |
02463
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IMGT |
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EMBL |
AF113676
AF130068
AK315637
AL132708
AM048838
BC011991
BC015642
BT019455
BX161449
BX247968
BX248002
BX248257
DQ174461
DQ682455
EF638807
GU727620
J00064
J00065
J00066
J00067
J02619
K01396
K02212
M11465
M26123
V00496
X01683
X02920
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GenPept |
AAA51545
AAA51546
AAA51547
AAB59369
AAB59370
AAB59371
AAB59375
AAB59495
AAF29581
AAG35496
AAH11991
AAH15642
AAV38262
ABA41642
ABG73380
ABR29795
ADU87622
BAG38005
CAA23755
CAA25838
CAA26677
CAD61914
CAD62306
CAD62334
CAD62585
CAJ15161
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