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SERPINA1

Chr 14q32.13

serpin family A member 1

Aliases:
AAT, A1A, PI1, alpha-1-antitrypsin, A1AT
MANE:
ENST00000393087.9
OMIM: 107400 ↗NCBI: 5265 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cholestasis

    BIALLELIC, autosomal or pseudoautosomal

  • Pneumothorax - familial

    BIALLELIC, autosomal or pseudoautosomal

  • COVID-19 research

  • Familial pulmonary fibrosis

  • Iron metabolism disorders - NOT common HFE mutations

    BIALLELIC, autosomal or pseudoautosomal

  • Neonatal cholestasis

    BIALLELIC, autosomal or pseudoautosomal

  • Ehlers Danlos syndrome with a likely monogenic cause

Disease associations (Open Targets)

  • Alpha-1-antitrypsin deficiency

    0.76

  • chronic obstructive pulmonary disease

    0.69

  • alpha 1-antitrypsin deficiency

    0.61

  • cholelithiasis

    0.57

  • pulmonary emphysema

    0.56

  • cirrhosis of liver

    0.56

  • coronary artery disorder

    0.56

  • Abnormality of the skeletal system

    0.56

  • liver disorder

    0.54

  • gallstones

    0.54

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Alpha-1-antitrypsin

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

Diseases associated with SERPINA1

Curated MONDO disease pages that list SERPINA1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.