Free for academic non-profit institutions. Other users need a Commercial license
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]
SERPINA1 (Serpin Family A Member 1) is a Protein Coding gene. Diseases associated with SERPINA1 include Alpha-1-Antitrypsin Deficiency and Hemorrhagic Disease Due To Alpha-1-Antitrypsin Pittsburgh Mutation. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include identical protein binding and protease binding. An important paralog of this gene is SERPINA3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 15853774 |
GO:0004867 | serine-type endopeptidase inhibitor activity | IDA,NAS | 12878203 |
GO:0005515 | protein binding | IPI | 11057674 |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO:0042802 | identical protein binding | IPI | 11057674 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA,IMP | 16192646 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 20477988 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport to the Golgi and subsequent modification | ||
2 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
3 | Innate Immune System |
.61
|
|
4 | Complement and coagulation cascades | ||
5 | Vesicle-mediated transport |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002576 | platelet degranulation | TAS | -- |
GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
GO:0006953 | acute-phase response | IEA | -- |
GO:0007596 | blood coagulation | IEA | -- |
GO:0007599 | hemostasis | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Pentetic acid | Approved | Pharma | Carrier, substrate | 148 | ||
Zinc | Approved, Investigational | Pharma | Target | 1594 | ||
zinc acetate | Approved, Investigational | Pharma | Target | 0 | ||
Zinc chloride | Approved, Investigational | Pharma | Target, ligand | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
alpha-1 antitrypsin fragment | Protease inhibitor | |
alpha-1 antitrypsin fragment 235-243 [Homo sapiens]/[Papio hamadryas]/[Cercopithecus aethiops] |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | · | 6f | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP17: | - | - | - | - | - | - | - |
ExUns: | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | - | - | |||||||||||
SP3: | |||||||||||||
SP4: | |||||||||||||
SP5: | |||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | |||||||||||||
SP10: | |||||||||||||
SP11: | |||||||||||||
SP12: | |||||||||||||
SP13: | |||||||||||||
SP14: | |||||||||||||
SP15: | |||||||||||||
SP16: | |||||||||||||
SP17: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SERPINA1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SERPINA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SERPINA1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Serpina1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Serpina1c 30 17 31 |
|
OneToMany | |
Serpina1a 17 31 |
|
OneToMany | |||
Serpina1b 17 31 |
|
OneToMany | |||
Serpina1d 17 31 |
|
OneToMany | |||
Serpina1e 17 31 |
|
OneToMany | |||
Serpina1f 31 |
|
OneToMany | |||
Gm46 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | SERPINA1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SERPINA1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SERPINA5 30 |
|
||
SERPINA4 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | SERPINA1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | serpina1 30 |
|
||
Str.4915 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397792 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | serpina1l 30 31 |
|
ManyToMany | |
serpina1 31 |
|
ManyToMany | |||
zgc:174260 31 |
|
ManyToMany | |||
zgc:174259 31 |
|
ManyToMany | |||
serpina7 31 |
|
ManyToMany | |||
si:ch211-186e20.7 31 |
|
ManyToMany | |||
si:ch211-186e20.2 31 |
|
ManyToMany | |||
CR559930.2 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | srp-1 32 |
|
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
692115 | Likely Benign: Alpha-1-antitrypsin deficiency | 94,381,009(-) | G/A | MISSENSE_VARIANT | |
692116 | Likely Pathogenic: Alpha-1-antitrypsin deficiency | 94,379,571(-) | T/G | MISSENSE_VARIANT | |
692117 | Likely Benign: Alpha-1-antitrypsin deficiency | 94,382,769(-) | C/T | MISSENSE_VARIANT | |
698143 | Likely Benign: Alpha-1-antitrypsin deficiency | 94,378,548(-) | G/A | SYNONYMOUS_VARIANT | |
698676 | Likely Benign: not provided | 94,380,915(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3447303 | CNV | insertion | 20981092 |
nsv1120301 | CNV | tandem duplication | 24896259 |
nsv1406 | CNV | insertion | 18451855 |
nsv470662 | CNV | gain | 18288195 |
nsv509545 | CNV | insertion | 20534489 |
nsv512370 | CNV | loss | 21212237 |
nsv513750 | CNV | insertion | 21212237 |
nsv832863 | CNV | gain | 17160897 |
nsv832864 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alpha-1-antitrypsin deficiency |
|
|
hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation |
|
|
pulmonary disease, chronic obstructive |
|
|
congenital disorder of glycosylation, type ib |
|
|
mental retardation, x-linked, associated with fragile site fraxe |
|
|