Human Gene PROZ (uc010agr.2) Description and Page Index
  Description: Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 1, mRNA.
RefSeq Summary (NM_001256134): 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].
Transcript (Including UTRs)
   Position: hg19 chr13:113,812,968-113,826,698 Size: 13,731 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr13:113,812,975-113,826,419 Size: 13,445 Coding Exon Count: 9 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:113,812,968-113,826,698)mRNA (may differ from genome)Protein (422 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCLynxMGIOMIMPubMedReactome
Stanford SOURCEUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PROZ
CDC HuGE Published Literature: PROZ
Positive Disease Associations: cerebral ischemia , Factor VII
Related Studies:
  1. cerebral ischemia
    Lichy C 2004, A common polymorphism of the protein Z gene is associated with protein Z plasma levels and with risk of cerebral ischemia in the young., Stroke; a journal of cerebral circulation. 2004 Jan;35(1):40-5. [PubMed 14671240]
    The A allele of an intron F polymorphism of the PZ gene appears to be a novel protective genetic marker for the risk of cerebral ischemia in young adults. In the context of juvenile stroke, high PZ plasma levels may represent a prothrombotic condition.
  2. cerebral ischemia
    Lichy, C. et al. 2003, A common polymorphism of the protein Z gene is associated with protein Z plasma levels and with risk of cerebral ischemia in the young., Stroke; a journal of cerebral circulation. 2004 Jan;35(1):40-5. [PubMed 14671240]
    The A allele of an intron F polymorphism of the PZ gene appears to be a novel protective genetic marker for the risk of cerebral ischemia in young adults. In the context of juvenile stroke, high PZ plasma levels may represent a prothrombotic condition.
  3. Factor VII
    Yang ,et al. 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study, BMC medical genetics 2007 8 Suppl 1 : S12. [PubMed 17903294]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: PROZ
Diseases sorted by gene-association score: cerebral sinovenous thrombosis* (14), stroke, ischemic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.19 RPKM in Liver
Total median expression: 52.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -72.26279-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00008 - EGF-like domain
PF00089 - Trypsin
PF00594 - Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
PF12661 - Human growth factor-like EGF
PF14670 - Coagulation Factor Xa inhibitory site

SCOP Domains:
50494 - Trypsin-like serine proteases
57567 - Serine proterase inhibitors
57196 - EGF/Laminin
57630 - GLA-domain

ModBase Predicted Comparative 3D Structure on P22891-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  M55670 - Human protein Z mRNA, complete cds.
M55671 - Human protein Z (plus 66 bp insertion) mRNA, complete cds.
BC074906 - Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein, mRNA (cDNA clone MGC:103872 IMAGE:30915254), complete cds.
BC074907 - Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein, mRNA (cDNA clone MGC:104039 IMAGE:30915483), complete cds.
KJ892640 - Synthetic construct Homo sapiens clone ccsbBroadEn_02034 PROZ gene, encodes complete protein.
KR712087 - Synthetic construct Homo sapiens clone CCSBHm_00035697 PROZ (PROZ) mRNA, encodes complete protein.
KR712088 - Synthetic construct Homo sapiens clone CCSBHm_00035698 PROZ (PROZ) mRNA, encodes complete protein.
KR712089 - Synthetic construct Homo sapiens clone CCSBHm_00035699 PROZ (PROZ) mRNA, encodes complete protein.
KR712090 - Synthetic construct Homo sapiens clone CCSBHm_00035700 PROZ (PROZ) mRNA, encodes complete protein.
M59303 - Human vitamin K-dependent protein Z mRNA, 3' end.
JD063247 - Sequence 44271 from Patent EP1572962.
JD357804 - Sequence 338828 from Patent EP1572962.
JD176867 - Sequence 157891 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P22891 (Reactome details) participates in the following event(s):

R-HSA-163798 Furin cleaves pro-protein Z to protein Z
R-HSA-163820 GGCX gamma-carboxylates PROZ(24-400) (pro-protein Z)
R-HSA-159782 Removal of aminoterminal propeptides from gamma-carboxylated proteins
R-HSA-159740 Gamma-carboxylation of protein precursors
R-HSA-159763 Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
R-HSA-159854 Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
R-HSA-163841 Gamma carboxylation, hypusine formation and arylsulfatase activation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001256134, NP_001243063, P22891-2, uc010agr.1
UCSC ID: uc010agr.2
RefSeq Accession: NM_001256134
Protein: P22891-2, splice isoform of P22891 CCDS: CCDS58300.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001256134.1
exon count: 9CDS single in 3' UTR: no RNA size: 1555
ORF size: 1269CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 2738.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.