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

Gene ID: 8858, updated on 15-Mar-2020

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
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

Genomic context

See PROZ in Genome Data Viewer
Location:
13q34
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (113155864..113172386)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113812968..113826698)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene lysyl-tRNA synthetase 1 pseudogene 2 Neighboring gene coagulation factor X Neighboring gene WAS/WASL-interacting protein family member 2-like Neighboring gene PCI domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 3704 Neighboring gene uncharacterized LOC107984583 Neighboring gene cullin 4A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
blood coagulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
vitamin K-dependent protein Z
Names
vitamin K-dependent protein Z precursor variant 1

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

  1. NG_031993.1 RefSeqGene

    Range
    5001..18731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256134.1NP_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)
    AI492996, M55671
    Consensus CDS
    CCDS58300.1
    UniProtKB/Swiss-Prot
    P22891
    Related
    ENSP00000344458.4, ENST00000342783.5
    Conserved Domains (5) summary
    smart00069
    Location:44108
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:117145
    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:211363
    Trypsin; Trypsin
    pfam14670
    Location:158187
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl21584
    Location:211363
    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 ...
  2. NM_003891.3NP_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
    P22891
    Related
    ENSP00000364697.2, ENST00000375547.6
    Conserved Domains (4) summary
    smart00069
    Location:2286
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:95123
    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:189341
    Trypsin; Trypsin
    pfam14670
    Location:136165
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    113155864..113172386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020812.1XP_016876301.1  vitamin K-dependent protein Z isoform X1

  2. XM_017020813.1XP_016876302.1  vitamin K-dependent protein Z isoform X2

RNA

  1. XR_001749709.1 RNA Sequence

  2. XR_001749708.1 RNA Sequence

  3. XR_001749707.1 RNA Sequence

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