9API

THE S VARIANT OF HUMAN ALPHA1-ANTITRYPSIN, STRUCTURE AND IMPLICATIONS FOR FUNCTION AND METABOLISM

External Resource: Annotation

Domain Annotation: SCOP/SCOPe Classification
Domain Annotation: SCOP2 Classification
Domain Annotation: CATH
Protein Family Annotation
Gene Ontology: Gene Product Annotation
InterPro: Protein Family Classification
Pharos: Disease Associations

Domain Annotation: SCOP/SCOPe Classification SCOP-e Database Homepage

Chains	Domain Info	Class	Fold	Superfamily	Family	Domain	Species	Provenance Source (Version)
A	d9api.1	Multi-domain proteins (alpha and beta)	Serpins	Serpins	Serpins	Antitrypsin, alpha-1	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
B	d9api.1	Multi-domain proteins (alpha and beta)	Serpins	Serpins	Serpins	Antitrypsin, alpha-1	(Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)

Domain Annotation: SCOP2 Classification SCOP2 Database Homepage

Chains	Type	Family Name	Domain Identifier	Family Identifier	Provenance Source (Version)
A	SCOP2B Superfamily	Serpins	8037305	3001563	SCOP2B (2022-06-29)

Domain Annotation: CATH CATH Database Homepage

Chain	Domain	Class	Architecture	Topology	Homology	Provenance Source (Version)
A	2.30.39.10	Mainly Beta	Roll	Alpha-1-antitrypsin	domain 1	CATH (4.3.0)
A	3.30.497.10	Alpha Beta	2-Layer Sandwich	Antithrombin	Chain I, domain 2	CATH (4.3.0)

Protein Family Annotation Pfam Database Homepage

Chains	Accession	Name	Description	Comments	Source
A	PF00079	Serpin (serine protease inhibitor) (Serpin)	Serpin (serine protease inhibitor)	Structure is a multi-domain fold containing a bundle of helices and a beta sandwich.	Domain

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
A	ALPHA 1-ANTITRYPSIN	enzyme regulator activity molecular function inhibitor activity peptidase regulator activity serine-type endopeptidase inhibitor activity molecular function regulator activity enzyme inhibitor activity peptidase inhibitor activity endopeptidase regulator activity endopeptidase inhibitor activity protein binding binding enzyme binding protease binding identical protein binding	multicellular organismal process regulation of body fluid levels wound healing response to stimulus hemostasis biological regulation blood coagulation response to stress coagulation regulation of biological quality response to wounding acute-phase response defense response inflammatory response multicellular organismal process regulation of body fluid levels wound healing response to stimulus hemostasis biological regulation blood coagulation response to stress coagulation regulation of biological quality response to wounding acute-phase response defense response inflammatory response acute inflammatory response	membrane-bounded organelle intracellular organelle intracellular anatomical structure Golgi apparatus organelle cytoplasm cellular anatomical entity intracellular membrane-bounded organelle endomembrane system membrane-enclosed lumen intracellular organelle lumen endoplasmic reticulum lumen organelle lumen endoplasmic reticulum membrane-bounded organelle intracellular organelle intracellular anatomical structure Golgi apparatus organelle cytoplasm cellular anatomical entity intracellular membrane-bounded organelle endomembrane system membrane-enclosed lumen intracellular organelle lumen endoplasmic reticulum lumen organelle lumen endoplasmic reticulum extracellular region membrane bounding membrane of organelle endoplasmic reticulum-Golgi intermediate compartment membrane endoplasmic reticulum-Golgi intermediate compartment organelle membrane extracellular exosome extracellular vesicle extracellular organelle extracellular space vesicle extracellular membrane-bounded organelle cell periphery extracellular matrix external encapsulating structure collagen-containing extracellular matrix vesicle lumen intracellular vesicle cytoplasmic vesicle lumen secretory granule lumen cytoplasmic vesicle secretory granule secretory vesicle platelet alpha granule platelet alpha granule lumen COPII-coated ER to Golgi transport vesicle coated vesicle ficolin-1-rich granule ficolin-1-rich granule lumen
B	ALPHA 1-ANTITRYPSIN	enzyme regulator activity molecular function inhibitor activity peptidase regulator activity serine-type endopeptidase inhibitor activity molecular function regulator activity enzyme inhibitor activity peptidase inhibitor activity endopeptidase regulator activity endopeptidase inhibitor activity protein binding binding enzyme binding protease binding identical protein binding	multicellular organismal process regulation of body fluid levels wound healing response to stimulus hemostasis biological regulation blood coagulation response to stress coagulation regulation of biological quality response to wounding acute-phase response defense response inflammatory response multicellular organismal process regulation of body fluid levels wound healing response to stimulus hemostasis biological regulation blood coagulation response to stress coagulation regulation of biological quality response to wounding acute-phase response defense response inflammatory response acute inflammatory response	membrane-bounded organelle intracellular organelle intracellular anatomical structure Golgi apparatus organelle cytoplasm cellular anatomical entity intracellular membrane-bounded organelle endomembrane system membrane-enclosed lumen intracellular organelle lumen endoplasmic reticulum lumen organelle lumen endoplasmic reticulum membrane-bounded organelle intracellular organelle intracellular anatomical structure Golgi apparatus organelle cytoplasm cellular anatomical entity intracellular membrane-bounded organelle endomembrane system membrane-enclosed lumen intracellular organelle lumen endoplasmic reticulum lumen organelle lumen endoplasmic reticulum extracellular region membrane bounding membrane of organelle endoplasmic reticulum-Golgi intermediate compartment membrane endoplasmic reticulum-Golgi intermediate compartment organelle membrane extracellular exosome extracellular vesicle extracellular organelle extracellular space vesicle extracellular membrane-bounded organelle cell periphery extracellular matrix external encapsulating structure collagen-containing extracellular matrix vesicle lumen intracellular vesicle cytoplasmic vesicle lumen secretory granule lumen cytoplasmic vesicle secretory granule secretory vesicle platelet alpha granule platelet alpha granule lumen COPII-coated ER to Golgi transport vesicle coated vesicle ficolin-1-rich granule ficolin-1-rich granule lumen

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
A	IPR023795	Serpin, conserved site	Conserved Site
A	IPR000215	Serpin family	Family
A	IPR023796	Serpin domain	Domain
A	IPR042178	Serpin superfamily, domain 1	Homologous Superfamily
A	IPR042185	Serpin superfamily, domain 2	Homologous Superfamily
A	IPR036186	Serpin superfamily	Homologous Superfamily
B	IPR023795	Serpin, conserved site	Conserved Site
B	IPR000215	Serpin family	Family
B	IPR023796	Serpin domain	Domain
B	IPR042178	Serpin superfamily, domain 1	Homologous Superfamily
B	IPR042185	Serpin superfamily, domain 2	Homologous Superfamily
B	IPR036186	Serpin superfamily	Homologous Superfamily

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
A	Pharos: P01009	alpha 1-antitrypsin deficiency vasculitis chronic obstructive pulmonary disease nodular non-suppurative panniculitis pulmonary fibrosis cirrhosis of liver liver disease asbestosis bronchiectasis cholestasis pulmonary emphysema tubular adenocarcinoma Hemorrhage adenocarcinoma arteriosclerosis disorder alpha 1-antitrypsin deficiency vasculitis chronic obstructive pulmonary disease nodular non-suppurative panniculitis pulmonary fibrosis cirrhosis of liver liver disease asbestosis bronchiectasis cholestasis pulmonary emphysema tubular adenocarcinoma Hemorrhage adenocarcinoma arteriosclerosis disorder lung disease granular cell carcinoma hepatocellular carcinoma HIV infectious disease bipolar disorder hypoglycemia B-cell chronic lymphocytic leukemia gastric cancer breast carcinoma glioblastoma MALT lymphoma head and neck cancer medulloblastoma acute kidney failure nephrosclerosis cribriform carcinoma idiopathic interstitial pneumonia ovarian cancer cutaneous lupus erythematosus invasive ductal breast carcinoma protein-losing enteropathy endogenous depression lung benign neoplasm autism spectrum disorder ulcerative colitis FRAXE intellectual disability malignant ependymoma Barrett esophagus gastric carcinoma breast fibroadenoma cerebrovascular disorder heart disease neurodegenerative disease non-small cell lung carcinoma cribriform carcinoma of breast cystic fibrosis inborn errors of metabolism alcoholic liver cirrhosis anxiety disorder periodontitis psoriasis esophageal adenocarcinoma lung cancer tuberculosis Finnish type amyloidosis autoimmune disease gallbladder disease malignant glioma gastric neoplasm malignant pancreatic neoplasm hemochromatosis type 1 hereditary diffuse gastric adenocarcinoma COPD, severe early onset osteosarcoma Crohn disease interstitial cystitis pancreatic ductal adenocarcinoma digestive system neuroendocrine neoplasm large cell medulloblastoma pilocytic astrocytoma Ehlers-Danlos syndrome lung carcinoma atypical teratoid rhabdoid tumor
B	Pharos: P01009	alpha 1-antitrypsin deficiency vasculitis chronic obstructive pulmonary disease nodular non-suppurative panniculitis pulmonary fibrosis cirrhosis of liver liver disease asbestosis bronchiectasis cholestasis pulmonary emphysema tubular adenocarcinoma Hemorrhage adenocarcinoma arteriosclerosis disorder alpha 1-antitrypsin deficiency vasculitis chronic obstructive pulmonary disease nodular non-suppurative panniculitis pulmonary fibrosis cirrhosis of liver liver disease asbestosis bronchiectasis cholestasis pulmonary emphysema tubular adenocarcinoma Hemorrhage adenocarcinoma arteriosclerosis disorder lung disease granular cell carcinoma hepatocellular carcinoma HIV infectious disease bipolar disorder hypoglycemia B-cell chronic lymphocytic leukemia gastric cancer breast carcinoma glioblastoma MALT lymphoma head and neck cancer medulloblastoma acute kidney failure nephrosclerosis cribriform carcinoma idiopathic interstitial pneumonia ovarian cancer cutaneous lupus erythematosus invasive ductal breast carcinoma protein-losing enteropathy endogenous depression lung benign neoplasm autism spectrum disorder ulcerative colitis FRAXE intellectual disability malignant ependymoma Barrett esophagus gastric carcinoma breast fibroadenoma cerebrovascular disorder heart disease neurodegenerative disease non-small cell lung carcinoma cribriform carcinoma of breast cystic fibrosis inborn errors of metabolism alcoholic liver cirrhosis anxiety disorder periodontitis psoriasis esophageal adenocarcinoma lung cancer tuberculosis Finnish type amyloidosis autoimmune disease gallbladder disease malignant glioma gastric neoplasm malignant pancreatic neoplasm hemochromatosis type 1 hereditary diffuse gastric adenocarcinoma COPD, severe early onset osteosarcoma Crohn disease interstitial cystitis pancreatic ductal adenocarcinoma digestive system neuroendocrine neoplasm large cell medulloblastoma pilocytic astrocytoma Ehlers-Danlos syndrome lung carcinoma atypical teratoid rhabdoid tumor

RCSB PDB Core Operations are funded by the U.S. National Science Foundation (DBI-2321666), the US Department of Energy (DE-SC0019749), and the National Cancer Institute, National Institute of Allergy and Infectious Diseases, and National Institute of General Medical Sciences of the National Institutes of Health under grant R01GM157729.