SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [Homo sapiens] - Gene

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Summary

Official Symbol: SERPINA3provided by HGNC
Official Full Name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3provided by HGNC
Primary source: HGNC:16
Locus tag: GIG24
See related: Ensembl:ENSG00000196136; HPRD:00120; MIM:107280; Vega:OTTHUMG00000029851
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACT; AACT; GIG24; GIG25; MGC88254
Summary: The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. 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, Jul 2008]

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Genomic context

Location :: 14q32.1

Sequence :: Chromosome: 14; NC_000014.8 (95078714..95090390)

See SERPINA3 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Pivotal role for alpha1-antichymotrypsin in skin repair
Title: Pivotal role for alpha1-antichymotrypsin in skin repair.
alpha-1 antichymotrypsin C-terminal fragment and Apo A1 provide a plasma molecular profile, and this is associated with acute cellular renal allograft rejection.
Title: Apolipoprotein A1 and C-terminal fragment of α-1 antichymotrypsin are candidate plasma biomarkers associated with acute renal allograft rejection.
human plasma serine protease inhibitor alpha(1)-antichymotrypsin inhibits staphopain C
Title: α1-Antichymotrypsin inactivates staphylococcal cysteine protease in cross-class inhibition.
The Alpha 1 antichymotrypsin is an independent histological prognostic marker for patients with Melanoma, especially those with Stage III melanoma.
Title: Alpha 1 antichymotrypsin is aberrantly expressed during melanoma progression and predicts poor survival for patients with metastatic melanoma.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Found a marked and persistent coronary artery bypass grafting (CABG) postoperative increase in the levels of the serpin-protease inhibitor alpha(1)-antichymotrypsin that fully maintains the inhibitory activity blunting its protease substrate cathepsin G.
Title: Proteomic analysis of plasma from patients undergoing coronary artery bypass grafting reveals a protease/antiprotease imbalance in favor of the serpin alpha1-antichymotrypsin.
The study concluded that the effect of the variations in the alpha-1-antichymotrypsin regulatory region must be very limited.
Title: Is there an association of regulatory region polymorphism in the alpha-1-antichymotrypsin gene with sporadic Alzheimer's disease in the northern Han-Chinese population?
The ANTICHYMOTRYPSIN genotype and allele frequency are not different in Indian cerebral hemorrhage and cerebral ischemia compared to controls.
Title: A study of alpha1 antichymotrypsin gene polymorphism in Indian stroke patients.
No cirrhosis secondary to ACT deficiency has been reported in children.
Title: alpha(1)-Antichymotrypsin deficiency associated with liver cirrhosis.
AAT efficiently inhibits both heat- and chemical-induced aggregation of various test proteins.
Title: Inhibition of heat- and chemical-induced aggregation of various proteins reveals chaperone-like activity of the acute-phase component and serine protease inhibitor human alpha(1)-antitrypsin.

Submit: New GeneRIF Correction See all (44)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Alpha-1-antichymotrypsin deficiency

MIM: 107280

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001076.1	NP_001902.1	CTSG	BIND	PubMed	Alpha-1 ACT interacts with and inhibits cathepsin G.
NP_001076.1	NP_002323.1	LRP1	BIND	PubMed	LRP interacts with alpha-1-ACT.
P01011	O75173	ADAMTS4	HPRD	PubMed
P01011	P05067	APP	HPRD	PubMed
P01011	Q9UNI1	CELA1	HPRD	PubMed
P01011	P23946	CMA1	HPRD	PubMed
P01011	P17538	CTRB1	HPRD	PubMed
P01011	Q99895	CTRC	HPRD	PubMed
P01011	P40313	CTRL	HPRD	PubMed
P01011	P08311	CTSG	HPRD	PubMed
P01011	Q96KC8	DNAJC1	HPRD	PubMed
P01011	P08246	ELANE	HPRD	PubMed
P01011	P04626	ERBB2	HPRD	PubMed
P01011	P12259	F5	HPRD	PubMed
P01011	P14653	HOXB1	HPRD	PubMed
P01011	P20151	KLK2	HPRD	PubMed
P01011	P07288	KLK3	HPRD	PubMed
P01011	P03956	MMP1	HPRD	PubMed
P01011	P26927	MST1	HPRD	PubMed
P01011	P09884	POLA1	HPRD	PubMed
P01011	P01011	SERPINA3	HPRD	PubMed
BioGRID:106530	BioGRID:122105	DNAJC1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:106530	BioGRID:108306	ELANE	BioGRID	PubMed	Biochemical Activity
BioGRID:106530	BioGRID:110017	KLK2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106530	BioGRID:111657	PSMA3	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
DNA binding	TAS Traceable Author Statement more info	PubMed
peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
serine-type endopeptidase inhibitor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acute-phase response	IEA Inferred from Electronic Annotation more info
inflammatory response	NAS Non-traceable Author Statement more info	PubMed
maintenance of gastrointestinal epithelium	NAS Non-traceable Author Statement more info	PubMed
negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
regulation of lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
regulation of proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
extracellular region	IBA Inferred from Biological aspect of Ancestor more info
extracellular region	NAS Non-traceable Author Statement more info	PubMed
intracellular	NAS Non-traceable Author Statement more info	PubMed
nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: alpha-1-antichymotrypsin

Names: alpha-1-antichymotrypsin; serpin A3; growth-inhibiting protein 24; growth-inhibiting protein 25; cell growth-inhibiting gene 24/25 protein; serine (or cysteine) proteinase inhibitor, clade A, member 3

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012879.1 RefSeqGene

Range

5001..16677

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001085.4 → NP_001076.2 alpha-1-antichymotrypsin precursor

Status: REVIEWED

Source sequence(s)

BC003559, CB111903

Consensus CDS

CCDS32150.1

UniProtKB/Swiss-Prot

P01011

Related

ENSP00000376793, ENST00000393078

Conserved Domains (2) summary

cd02056
Location:52 – 417
Blast Score: 1367

alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

PHA02660
Location:53 – 420
Blast Score: 149

PHA02660; serpin-like protein; Provisional

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

95078714..95090390

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

75259097..75270773

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL049839.3 (57478..69154)	None
genomic	CH471061.1	EAW81587.1
		EAW81588.1
		EAW81589.1
		EAW81590.1
genomic	CS081989.1	CAI95958.1
genomic	X00947.1	CAA25459.1
genomic	X68733.1	CAA48671.1
mRNA	AB209060.1	BAD92297.1
mRNA	AF089747.1	AAD08810.1
mRNA	AK093049.1	BAG52641.1
mRNA	AK096120.1	None
mRNA	AK123091.1	BAG53869.1
mRNA	AY513275.1	AAT08028.1
mRNA	AY513276.1	AAT08029.1
mRNA	BC003559.1	AAH03559.3
mRNA	BC010530.1	AAH10530.1
mRNA	BC013189.1	AAH13189.1
mRNA	BC034554.1	AAH34554.1
mRNA	BC070265.1	AAH70265.1
mRNA	BG565041.1	None
mRNA	CB111903.1	None
mRNA	J05176.1	AAA51560.1
mRNA	K01500.1	AAA51543.1
mRNA	M18906.1	AAA51559.1
other-genetic	HQ448280.1	ADQ32760.1