SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 [Homo sapiens] - Gene

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Summary

Official Symbol: SERPINC1provided by HGNC
Official Full Name: serpin peptidase inhibitor, clade C (antithrombin), member 1provided by HGNC
Primary source: HGNC:775
Locus tag: PRO0309
See related: Ensembl:ENSG00000117601; HPRD:00122; MIM:107300; Vega:OTTHUMG00000037276
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: AT3; AT3D; ATIII; THPH7; MGC22579
Summary: The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]

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Genomic context

Location :: 1q23-q25.1

Sequence :: Chromosome: 1; NC_000001.10 (173872942..173886516, complement)

See SERPINC1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 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?

Studies suggest that for test-order policy of thrombophilia screening for PC, PS, and AT should be limited to outpatients.
Title: Inappropriate use of protein C, protein S, and antithrombin testing for hereditary thrombophilia screening: an experience from a large university hospital.
Data suggest that antithrombin appears to play an active role in factor VIIa inhibition during cardiac surgery.
Title: Factor VIIa-Antithrombin complexes during cardiac surgery using cardiopulmonary bypass.
new AT gene mutation leading to type 1 AT deficiency manifested as venous and arterial thrombosis
Title: Arterial and venous thrombosis and prothrombotic fibrin clot phenotype in a Polish family with type 1 antithrombin deficiency (antithrombin Krakow).
The data suggested that normal epithelial cells use a dual mechanism involving hepatocyte growth factor activator inhibitor-1 and antithrombin to control matriptase and that the antithrombin-based mechanism is lost in the majority of carcinomas.
Title: Matriptase is inhibited by extravascular antithrombin in epithelial cells but not in most carcinoma cells.
Clinical manifestations of acute focal neurological deficits in stroke were associated with plasma AT-III and fibrinogen
Title: Antithrombin III associated with fibrinogen predicts the risk of cerebral ischemic stroke.
genetic polymorphism is associated with antithrombin deficiency and venous thromboembolism
Title: Molecular basis of antithrombin deficiency.
descriptions of and pedigrees for 2 cases of antithrombin deficiency in China: (1) frameshift mutation in SERPINC1 and (2) large deletion including all seven exons of SERPINC1
Title: Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods.
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.
In non-ST elevation-Acute Coronary Syndrome patientshe severity of culprit lesion may be associated with plasma D-dimer, thrombin-antithrombin III complex, and Prothrombin Factor 1 + 2 (PF1.2)levels
Title: Association of thrombotic and fibrinolytic factors with severity of culprit lesion in patients with acute coronary syndromes without ST elevation.
Letter: Used thrombinography to gain insight into the respective influence of SERPINC1 mutations responsible for different AT phenotypes on the coagulability level and on the risk of thrombosis.
Title: Influence of natural SERPINC1 mutations on ex vivo thrombin generation.

Submit: New GeneRIF Correction See all (56)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Thrombophilia due to antithrombin III deficiency

MIM: 613118

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Products	Interactant	Other Gene	Source	Pubs
P01008	P00734	F2	HPRD	PubMed
P01008	P20151	KLK2	HPRD	PubMed
P01008	Q92876	KLK6	HPRD	PubMed
P01008	P00747	PLG	HPRD	PubMed
P01008	P34741	SDC2	HPRD	PubMed
P01008	P01008	SERPINC1	HPRD	PubMed

Function	Evidence Code	Pubs
heparin binding	IEA Inferred from Electronic Annotation more info
peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
protease binding	IPI Inferred from Physical Interaction more info	PubMed
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	IEA Inferred from Electronic Annotation more info
serine-type endopeptidase inhibitor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
blood coagulation	TAS Traceable Author Statement more info
negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
regulation of proteolysis	IBA Inferred from Biological aspect of Ancestor more info
response to nutrient	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: antithrombin-III

Names: antithrombin-III; serpin C1; antithrombin III; serine-cysteine proteinase inhibitor clade C member 1; serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1

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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_012462.1 RefSeqGene

Range

5001..18575

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000488.3 → NP_000479.1 antithrombin-III precursor

Status: REVIEWED

Source sequence(s)

AL136170, H62671, H71210

Consensus CDS

CCDS1313.1

UniProtKB/Swiss-Prot

P01008

Related

ENSP00000356671, OTTHUMP00000035393, ENST00000367698, OTTHUMT00000090734

Conserved Domains (1) summary

cd02045
Location:79 – 458
Blast Score: 1715

antithrombin-III_like; Antithrombin is a serine proteinase inhibitor (serpin) which controls the process of coagulation. It is the most important anticoagulant molecule in mammalian circulation systems, controlled by its interaction with the co-factor, heparin, which ...

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_000001.10 Reference GRCh37.p5 Primary Assembly

Range

173872942..173886516, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

145098064..145111634, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB083701.1	BAC21173.1
genomic	AB083703.1	BAC21174.1
genomic	AB083704.1	BAC21175.1
genomic	AB083707.1	BAC21176.1
genomic	AF386078.2	AAK60337.1
genomic	AL136170.14	CAI19423.1
genomic	CH471067.1	EAW90969.1
		EAW90970.1
		EAW90971.1
genomic	CQ975467.1	CAI45858.1
genomic	HH713706.1	CBX54631.1
genomic	L00190.1	AAB40025.1
genomic	M21642.1	AAA51796.1
genomic	M21643.1	AAA51793.1
		AAA51794.1
genomic	M21644.1	AAA51794.1
genomic	M21645.1	AAA51795.1
genomic	U11270.1	AAA19930.1
genomic	X00237.1	CAA25059.1
genomic	X00238.1	CAA25060.1
genomic	X03203.1	CAA26951.1
genomic	X03204.1	CAA26952.1
genomic	X68793.1	CAA48690.1
mRNA	AF130100.1	AAG35525.1
mRNA	AK312654.1	BAG35537.1
mRNA	BC022309.1	AAH22309.1
mRNA	D29832.1	BAA06212.1
mRNA	H62671.1	None
mRNA	H65301.1	None
mRNA	H71210.1	None
mRNA	R84868.1	None

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P01008.1	GenPept	UniProtKB/Swiss-Prot:P01008
Q7KYQ5	GenPept	UniProtKB/TrEMBL:Q7KYQ5
Q7KYY4	GenPept	UniProtKB/TrEMBL:Q7KYY4
Q8IZZ8	GenPept	UniProtKB/TrEMBL:Q8IZZ8
Q8IZZ9	GenPept	UniProtKB/TrEMBL:Q8IZZ9
Q8J000	GenPept	UniProtKB/TrEMBL:Q8J000
Q8J001	GenPept	UniProtKB/TrEMBL:Q8J001
Q8TCE1	GenPept	UniProtKB/TrEMBL:Q8TCE1
Q9UBW9	GenPept	UniProtKB/TrEMBL:Q9UBW9
Q9UE54	GenPept	UniProtKB/TrEMBL:Q9UE54