SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 [Homo sapiens] - Gene

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Summary

Official Symbol: SERPINA5provided by HGNC
Official Full Name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5provided by HGNC
Primary source: HGNC:8723
See related: Ensembl:ENSG00000188488; HPRD:03503; MIM:601841; Vega:OTTHUMG00000170860
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PCI; PAI3; PAI-3; PROCI; PLANH3

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Genomic context

Location :: 14q32.1

Sequence :: Chromosome: 14; NC_000014.8 (95047731..95059457)

See SERPINA5 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?

the effects of N-glycans and the NH-terminus on a PCI function
Title: N-glycans of human protein C inhibitor: tissue-specific expression and function.
SerpinA5 expression is significantly reduced in advanced-stage serous borderline tumors and serous carcinomas.
Title: Loss of SerpinA5 protein expression is associated with advanced-stage serous ovarian tumors.
This study was undertaken to further understand the structural micro-heterogeneity of PCI. Individuals of two different ethnicities possess a similar PCI pattern, verifying that the micro-heterogeneity is conserved among humans.
Title: Further insight into the roles of the glycans attached to human blood protein C inhibitor.
APC-PCI complex levels were higher in peripheral arterial disease patients than in controls, but did not predict the clinical outcome.
Title: Activated protein C-protein C inhibitor complex in peripheral arterial disease.
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.
function for PCI in innate immunity
Title: Protein C inhibitor--a novel antimicrobial agent.
In men involved in total fertilization failure, a heterozygous adenosine/guanine (A/G) base combination in position 1389 (rs2069990) (exon 6) in the protein C inhibitor gene was significantly more common compared with controls (10.9% vs. 0).
Title: Polymorphisms in the protein C inhibitor gene in in vitro fertilization failure.
The heparin binding site of protein C inhibitor is protease-dependent.
Title: The heparin binding site of protein C inhibitor is protease-dependent.
Patients with abdominal aortic aneurysm have increased thrombin generation reflected by an increase in the activated protein C-protein C inhibitor complex, which correlates with aneurysm size.
Title: Activated protein C-protein C inhibitor complex in patients with abdominal aortic aneurysms: is it associated with diameter and growth rate?
A crystallographic structure of the Michaelis complex of PCI, thrombin, and heparin to 1.6 A resolution, was determined.
Title: Molecular basis of thrombin recognition by protein C inhibitor revealed by the 1.6-A structure of the heparin-bridged complex.

Submit: New GeneRIF Correction See all (19)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Protein C inhibitor deficiency

MIM: 601841

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Products	Interactant	Other Gene	Source	Pubs	Description
P05154	P10323	ACR	HPRD	PubMed
P05154	Q7L5N1	COPS6	HPRD	PubMed
P05154	P00742	F10	HPRD	PubMed
P05154	P03951	F11	HPRD	PubMed
P05154	P00734	F2	HPRD	PubMed
P05154	P02671	FGA	HPRD	PubMed
P05154	P02675	FGB	HPRD	PubMed
P05154	P02679	FGG	HPRD	PubMed
P05154	P06870	KLK1	HPRD	PubMed
P05154	P20151	KLK2	HPRD	PubMed
P05154	P07288	KLK3	HPRD	PubMed
P05154	P03952	KLKB1	HPRD	PubMed
P05154	P00750	PLAT	HPRD	PubMed
P05154	P00749	PLAU	HPRD	PubMed
P05154	P04070	PROC	HPRD	PubMed
P05154	Q02383	SEMG2	HPRD	PubMed
P05154	P05154	SERPINA5	HPRD	PubMed
P05154	P07204	THBD	HPRD	PubMed
BioGRID:111135	BioGRID:106565	ACR	BioGRID	PubMed	Reconstituted Complex
BioGRID:111135	BioGRID:116176	COPS6	BioGRID	PubMed	Two-hybrid
BioGRID:111135	BioGRID:108458	F11	BioGRID	PubMed	Reconstituted Complex
BioGRID:111135	BioGRID:110017	KLK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111135	BioGRID:106850	KLK3	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:111135	BioGRID:110018	KLKB1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111135	BioGRID:111343	PLAT	BioGRID	PubMed	Reconstituted Complex
BioGRID:111135	BioGRID:111344	PLAU	BioGRID	PubMed	Reconstituted Complex
BioGRID:111135	BioGRID:111608	PROC	BioGRID	PubMed	Co-purification; Reconstituted Complex

Function	Evidence Code	Pubs
acrosin binding	IPI Inferred from Physical Interaction more info	PubMed
glycosaminoglycan binding	TAS Traceable Author Statement more info	PubMed
heparin binding	TAS Traceable Author Statement more info	PubMed
peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
protease binding	IPI Inferred from Physical Interaction more info	PubMed
retinoic acid binding	IDA Inferred from Direct Assay more info	PubMed
serine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
fusion of sperm to egg plasma membrane	NAS Non-traceable Author Statement more info	PubMed
lipid transport	IEA Inferred from Electronic Annotation more info
negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
regulation of proteolysis	IBA Inferred from Biological aspect of Ancestor more info
spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
acrosomal membrane	IDA Inferred from Direct Assay more info	PubMed
external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
extracellular region	IBA Inferred from Biological aspect of Ancestor more info
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular region	TAS Traceable Author Statement more info	PubMed
extracellular space	IDA Inferred from Direct Assay more info	PubMed
membrane	IDA Inferred from Direct Assay more info	PubMed
platelet alpha granule	IDA Inferred from Direct Assay more info	PubMed
platelet dense tubular network	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-KLK3 complex	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-PLAT complex	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-PLAU complex	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-TMPRSS11E complex	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-TMPRSS7 complex	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-coagulation factor V complex	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-coagulation factor XI complex	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-coagulation factor Xa complex	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-plasma kallikrein complex	IDA Inferred from Direct Assay more info	PubMed
protein C inhibitor-thrombin complex	IDA Inferred from Direct Assay more info	PubMed
protein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: plasma serine protease inhibitor

Names: plasma serine protease inhibitor; serpin A5; plasminogen activator inhibitor 3; plasminogen activator inhibitor-3; acrosomal serine protease inhibitor; plasminogen activator inhibitor III; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5

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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.

mRNA and Protein(s)

NM_000624.4 → NP_000615.3 plasma serine protease inhibitor precursor

Status: VALIDATED

Source sequence(s)

AL049839

Consensus CDS

CCDS9928.1

UniProtKB/Swiss-Prot

P05154

Related

ENSP00000333203, ENST00000329597

Conserved Domains (1) summary

cd02056
Location:44 – 403
Blast Score: 1260

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, ...

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

95047731..95059457

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

75228158..75239873

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF361796.1	AAK27240.1
genomic	AL049839.3 (26496..38222)	None
genomic	CH471061.1	EAW81582.1
		EAW81583.1
		EAW81584.1
		EAW81585.1
		EAW81586.1
genomic	M68516.1	AAA02811.1
genomic	S69366.1	AAB30461.1
mRNA	AK096131.1	BAG53218.1
mRNA	AK293192.1	BAG56732.1
mRNA	AK298279.1	BAG60539.1
mRNA	AK310869.1	None
mRNA	AL080185.1	CAB45766.1
mRNA	BC008915.2	AAH08915.1
mRNA	J02639.1	AAA35688.1
mRNA	S58545.1	AAB26244.2
mRNA	U35464.1	AAB60386.1
other-genetic	DQ893527.2	ABM84453.1
other-genetic	DQ896552.2	ABM87551.1