SERPINA3 (serpin family A member 3)

Gene

• Entrez ID: 12
• Gene name: Serpin family A member 3
• Gene symbol: SERPINA3
• Synonyms: AACT, ACT, GIG24, GIG25
• Chromosome: 14
• Chromosome location: 14q32.13
• Summary: The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein`s sequence have been implicated in Alzheimer`s disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17473	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1800463	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs116929575	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016786	hsa-miR-335-5p	Microarray	18185580
MIRT437804	hsa-miR-137	Luciferase reporter assay	23640964
MIRT610040	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT610041	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610042	hsa-miR-3909	HITS-CLIP	23824327
MIRT610043	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT610044	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT610045	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT610046	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT610047	hsa-miR-3183	HITS-CLIP	23824327
MIRT613731	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613732	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613733	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613734	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT618446	hsa-miR-4776-3p	HITS-CLIP	23824327
MIRT618447	hsa-miR-4659b-5p	HITS-CLIP	23824327
MIRT618448	hsa-miR-4659a-5p	HITS-CLIP	23824327
MIRT618449	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT618450	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT618450	hsa-miR-197-3p	qRT-PCR	28418912
MIRT618451	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT644599	hsa-miR-5096	HITS-CLIP	23824327
MIRT644600	hsa-miR-499b-5p	HITS-CLIP	23824327

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Repression	11027208
RELA	Repression	11027208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002576	Process	Platelet degranulation	TAS
GO:0003677	Function	DNA binding	TAS	14668352
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA	21873635
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	2404007
GO:0005515	Function	Protein binding	IPI	12709365, 14668352, 14687906, 32814053
GO:0005576	Component	Extracellular region	NAS	8647626, 9880565, 14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005634	Component	Nucleus	TAS	14668352
GO:0006953	Process	Acute-phase response	IEA
GO:0006954	Process	Inflammatory response	NAS	12475184
GO:0010951	Process	Negative regulation of endopeptidase activity	IBA	21873635
GO:0019216	Process	Regulation of lipid metabolic process	NAS	11835318
GO:0030277	Process	Maintenance of gastrointestinal epithelium	NAS	8647626
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28344315, 28675934
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 107280
• HGNC: 16
• e!Ensembl: ENSG00000196136

Protein

• UniProt ID: P01011
• Protein name: Alpha-1-antichymotrypsin (ACT) (Cell growth-inhibiting gene 24/25 protein) (Serpin A3) [Cleaved into: Alpha-1-antichymotrypsin His-Pro-less]
• Protein function: Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.
• PDB: 1AS4, 1QMN, 2ACH, 3CAA, 3DLW, 4CAA, 6HGE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00079	Serpin	51 → 420	Serpin (serine protease inhibitor)	Domain

• Sequence:

  MERMLPLLALGLLAAGFCPAVLCHPNSPLDEENLTQENQDRGTHVDLGLASANVDFAFSL
  YKQLVLKAPDKNVIFSPLSISTALAFLSLGAHNTTLTEILKGLKFNLTETSEAEIHQSFQ
  HLLRTLNQSSDELQLSMGNAMFVKEQLSLLDRFTEDAKRLYGSEAFATDFQDSAAAKKLI
  NDYVKNGTRGKITDLIKDLDSQTMMVLVNYIFFKAKWEMPFDPQDTHQSRFYLSKKKWVM
  VPMMSLHHLTIPYFRDEELSCTVVELKYTGNASALFILPDQDKMEEVEAMLLPETLKRWR
  DSLEFREIGELYLPKFSISRDYNLNDILLQLGIEEAFTSKADLSGITGARNLAVSQVVHK
  AVLDVFEEGTEASAATAVKITLLSALVETRTIVRFNRPFLMIIVPTDTQNIFFMSKVTNP
  KQA

• Sequence length: 423

Pathways

Reactome:

Platelet degranulation
Neutrophil degranulation

Associated diseases

Disease name	Disease term	References
	OBSOLETE: Alpha-1-antichymotrypsin deficiency
	Lipoidosis	15342952, 16919414, 17175557
	Prostatic Neoplasms	18383875
	Malignant neoplasm of prostate	18383875