PROZ protein Z, vitamin K dependent plasma glycoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: PROZprovided by HGNC
Official Full Name: protein Z, vitamin K dependent plasma glycoproteinprovided by HGNC
Primary source: HGNC:HGNC:9460
See related: Ensembl:ENSG00000126231 MIM:176895; AllianceGenome:HGNC:9460
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: PZ
Summary: This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Expression: Biased expression in liver (RPKM 5.4), kidney (RPKM 4.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 13q34

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (113158648..113172386)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (112406247..112424058)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (113812962..113826700)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression and diagnostic value of plasma protein Z and protein Z-dependent protease inhibitor in fetal growth restriction.
Title: Expression and diagnostic value of plasma protein Z and protein Z-dependent protease inhibitor in fetal growth restriction.
The Proteolytic Inactivation of Protein Z-Dependent Protease Inhibitor by Neutrophil Elastase Might Promote the Procoagulant Activity of Neutrophil Extracellular Traps in Sepsis.
Title: The Proteolytic Inactivation of Protein Z-Dependent Protease Inhibitor by Neutrophil Elastase Might Promote the Procoagulant Activity of Neutrophil Extracellular Traps in Sepsis.
Association of Protein Z with Prediabetes and Type 2 Diabetes.
Title: Association of Protein Z with Prediabetes and Type 2 Diabetes.
Data show that women with intrauterine growth restriction (IUGR) had significantly higher mean plasma concentrations of protein Z compared to women with normal pregnancies.
Title: The Relationship between Z-Protein Level and other Parameters in Pregnant Women with Intrauterine Growth Retardation in Third Trimester.
Protein Z-79 G/A gene polymorphism may be of a protective value against thrombosis in antiphospholipid syndrome (APS). The G79A polymorphism of protein Z was not found to be an independent risk factor of thrombosis in APS.
Title: The relation between protein Z polymorphism and the risk of thrombosis in Egyptian patients with antiphospholipid syndrome.
Polymorphisms of F2, PROC, PROZ, and F13A1 Genes are Associated With Recurrent Spontaneous Abortion in Chinese Han Women.
Title: Polymorphisms of F2, PROC, PROZ, and F13A1 Genes are Associated With Recurrent Spontaneous Abortion in Chinese Han Women.
Low PZ appears to be an underestimated risk factor for perioperative bleeding. Determination of PZ plasma concentrations might be useful in the preoperative workup in patients with a bleeding history, when detailed clotting analyses remain inconclusive.
Title: Low plasma protein Z levels are associated with an increased risk for perioperative bleedings.
PZ/ZPI polymorphisms do not appear to play an active role in the development of prosthesis heart valve thrombosis.
Title: The Role of Protein Z and Protein Z-Dependent Protease Inhibitor Polymorphisms in the Development of Prosthetic Heart Valve Thrombosis.
Report evidence of a non-linear positive association between PZ level and unexplained stroke, with a directionally consistent association for genetic variants related to PZ levels and cryptogenic stroke.
Title: Circulating protein Z concentration, PROZ variants, and unexplained cerebral infarction in young and middle-aged adults.
Data suggest oxidized lipid vesicles with phosphatidylserine/polyunsaturated fatty acids promote inactivation of ZPI-PZ complex or free ZPI; binding of PZ-complexed or free ZPI to oxidized vesicles mediates inactivation of ZPI (an inhibitor of FXa); blocking heparin- (anticoagulant-)binding site on ZPI interferes with binding to lipid or PZ. (ZPI = protein Z-dependent protease inhibitor; PZ = protein Z; FXa = factor Xa)
Title: Lipid oxidation inactivates the anticoagulant function of protein Z-dependent protease inhibitor (ZPI).

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Protein Z deficiency MedGen: C3151465 OMIM: 614024 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M55671 (e-PCR)
- UniSTS:64521

NoName (e-PCR)
- UniSTS:489757

D13S1662 (e-PCR)
- UniSTS:20792

NoName (e-PCR)
- UniSTS:480649

NoName (e-PCR)
- UniSTS:482046

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in blood coagulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: vitamin K-dependent protein Z

NCBI Reference Sequences (RefSeq)

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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_031993.2 RefSeqGene

Range

4995..18733

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_573

mRNA and Protein(s)

NM_001256134.2 → NP_001243063.1 vitamin K-dependent protein Z isoform 1 precursor

See identical proteins and their annotated locations for NP_001243063.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL137002

Consensus CDS

CCDS58300.1

UniProtKB/TrEMBL

B0YJC6

Related

ENSP00000344458.4, ENST00000342783.5

Conserved Domains (5) summary

smart00069
Location:44 → 108

GLA; Domain containing Gla (gamma-carboxyglutamate) residues

cd00054
Location:117 → 145

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00089
Location:211 → 363

Trypsin; Trypsin

pfam14670
Location:158 → 187

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl21584
Location:211 → 363

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_003891.3 → NP_003882.1 vitamin K-dependent protein Z isoform 2 precursor

See identical proteins and their annotated locations for NP_003882.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AL137002

Consensus CDS

CCDS9531.1

UniProtKB/Swiss-Prot

A6NMB4, P22891, Q15213, Q5JVF5, Q5JVF6

UniProtKB/TrEMBL

B0YJC6

Related

ENSP00000364697.2, ENST00000375547.7

Conserved Domains (4) summary

smart00069
Location:22 → 86

GLA; Domain containing Gla (gamma-carboxyglutamate) residues

cd00054
Location:95 → 123

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00089
Location:189 → 341

Trypsin; Trypsin

pfam14670
Location:136 → 165

FXa_inhibition; Coagulation Factor Xa inhibitory site