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FLASH GENE

Symbol

SERPINA1

contributors: mct/npt/pgu - updated : 10-01-2015

HGNC name	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
HGNC id	8941

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       predominantly Lymphoid/Immune spleen       highly   thymus       highly Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Homo sapiens Epithelial       highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic neutrophil Homo sapiens Lymphoid/Immune macrophage

cell lineage
cell lines	hepatoma cells
fluid/secretion

at STAGE

physiological period

embryo, fetal

Text

liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

attachment sites for N-linked oligosaccharides

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

serpin family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic,granule
	intracellular,nucleus,nucleolus
text	associated with azurophile granules in neutrophils indicative of SERPINA1 expression being restricted to the promyelocyte stage

basic FUNCTION	serine protease inhibitor
	inhibiting elastase
	involved in the regulation of gene activity and chromatin structure by the complex HNF1A - HNF4
	entry and cell association of SERPINA1 is dependent on lipid raft cholesterol and SERPINA1 depletes lipid raft cholesterol
	regulates human neutrophil chemotaxis induced by soluble immune complexes and IL8
	provides an antiprotease protective screen throughout the body
	protective of tissue damage induced by enzymes of inflammatory cell source
	contributes to the pathogenesis of ankylosing spondylitis by up-regulating the gene expression in the synovial tissues

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

LMAN2/SERPINA1 complex localized to Golgi and endoplasmic reticulum (ER)

INTERACTION

DNA

RNA

small molecule

protein	interacting with LMAN1 (intracellular transport receptor of alpha1-antitrypsin)
	LMAN2 bound exclusively to the high-mannose form of SERPINA1 (function of LMAN2 in post-ER quality control of SERPINA1)
	important inhibitor of neutrophil proteases including elastase, cathepsin G, and proteinase 3
	TMPRSS11B is a catalytically active serine protease that is inhibited by the two Kunitz type serine protease inhibitors, hepatocyte growth factor activator inhibitor SPINT1 and SPINT2, as well as by SERPINA1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

COPD1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function AAT activity was decreased in amnions from cases with premature rupture of the membranes, regardless of gestational age constitutional     --over   in synovial membranes of patients with ankylosing spondylitis constitutional     --low   in preterm premature rupture of membrane (PPROM)

Susceptibility

to Wegener granulomatosis to chronic obstructive pulmonary disease to liver cancer to liver disease

Variant & Polymorphism SNP , other	linkage desequilibrium
	SNP increasing the risk of chronic obstructive pulmonary disease
	AAT deficiency variants, besides increasing the risk of lung disease, may predispose to liver disease, particularly if associated with the common Z variant

Candidate gene
Marker	SERPINA1 and autoantibodies against SERPINA1 may be useful serum biomarkers for early-stage breast cancer screening and diagnosis
	peptide regions of SERPINA1 and ENOSF1 expression are potential serum biomarkers for gastric cancer
Therapy target

ANIMAL & CELL MODELS