SERPINA1 (serpin family A member 1)

2007-02-01  

Identity

HGNC
LOCATION
14q32.13
LOCUSID
ALIAS
A1A,A1AT,AAT,PI,PI1,PRO2275,alpha1AT,nNIF
FUSION GENES

Other Information

Locus ID:

NCBI: 5265
MIM: 107400
HGNC: 8941
Ensembl: ENSG00000197249

Variants:

dbSNP: 5265
ClinVar: 5265
TCGA: ENSG00000197249
COSMIC: SERPINA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197249ENST00000355814P01009
ENSG00000197249ENST00000355814E9KL23
ENSG00000197249ENST00000393087P01009
ENSG00000197249ENST00000393087E9KL23
ENSG00000197249ENST00000393088P01009
ENSG00000197249ENST00000393088E9KL23
ENSG00000197249ENST00000402629P01009
ENSG00000197249ENST00000404814P01009
ENSG00000197249ENST00000404814E9KL23
ENSG00000197249ENST00000437397P01009
ENSG00000197249ENST00000437397E9KL23
ENSG00000197249ENST00000440909P01009
ENSG00000197249ENST00000440909E9KL23
ENSG00000197249ENST00000448921P01009
ENSG00000197249ENST00000448921E9KL23
ENSG00000197249ENST00000449399P01009
ENSG00000197249ENST00000449399E9KL23
ENSG00000197249ENST00000489769P01009
ENSG00000197249ENST00000553327G3V5R8
ENSG00000197249ENST00000554720G3V2B9
ENSG00000197249ENST00000556091G3V544
ENSG00000197249ENST00000556955G3V387
ENSG00000197249ENST00000557118G3V4I7
ENSG00000197249ENST00000557492A0A0B4J278
ENSG00000197249ENST00000636712P01009
ENSG00000197249ENST00000636712E9KL23

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
161836492005Accumulation of mutant alpha1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and -12, NFkappaB, and BAP31 but not the unfolded protein response.77
210601502010α-1 Antitrypsin regulates human neutrophil chemotaxis induced by soluble immune complexes and IL-8.77
124646602002Alpha1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy.70
229160372012Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.70
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
233819572013Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.59
151003182004Activation of endoplasmic reticulum-specific stress responses associated with the conformational disease Z alpha 1-antitrypsin deficiency.57
191970722009Alpha-1-antitrypsin is an endogenous inhibitor of proinflammatory cytokine production in whole blood.55

Citation

Dessen P

SERPINA1 (serpin family A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46442/serpina1