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

    Gene ID: 8858, updated on 2-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See PROZ in Genome Data Viewer
    Location:
    13q34
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113158648..113172386)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112406247..112424058)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113812962..113826700)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene WAS/WASL-interacting protein family member 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5538 Neighboring gene uncharacterized LOC124903216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113812445-113813022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113813599-113814176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113825981-113826504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113827099-113827599 Neighboring gene PCI domain containing 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:113841395-113842594 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113862038-113862688 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113862689-113863338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113874723-113875286 Neighboring gene cullin 4A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113876707-113877556 Neighboring gene microRNA 8075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113928297-113928796 Neighboring gene Sharpr-MPRA regulatory region 2925 Neighboring gene lactate dehydrogenase B pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    vitamin K-dependent protein Z

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_031993.2 RefSeqGene

      Range
      4995..18733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_573

    mRNA and Protein(s)

    1. NM_001256134.2NP_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: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
      A6NMB4, P22891, Q15213, Q5JVF5, Q5JVF6
      UniProtKB/TrEMBL
      B0YJC6
      Related
      ENSP00000364697.2, ENST00000375547.7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      113158648..113172386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020813.2XP_016876302.1  vitamin K-dependent protein Z isoform X1

    2. XM_047430720.1XP_047286676.1  vitamin K-dependent protein Z isoform X2

    3. XM_047430721.1XP_047286677.1  vitamin K-dependent protein Z isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      112406247..112424058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375111.1XP_054231086.1  vitamin K-dependent protein Z isoform X5

    2. XM_054375110.1XP_054231085.1  vitamin K-dependent protein Z isoform X4

    RNA

    1. XR_008488790.1 RNA Sequence

    2. XR_008488791.1 RNA Sequence