PROZ (protein Z, vitamin K dependent plasma glycoprotein)

Gene

• Entrez ID: 8858
• Gene name: Protein Z, vitamin K dependent plasma glycoprotein
• Gene symbol: PROZ
• Synonyms (NCBI Gene): PZ
• Chromosome: 13
• Chromosome location: 13q34
• 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 directl

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	20427285
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 176895
• HGNC: 9460
• e!Ensembl: ENSG00000126231

Protein

• UniProt ID: P22891
• Protein name: Vitamin K-dependent protein Z
• Protein function: Appears to assist hemostasis by binding thrombin and promoting its association with phospholipid vesicles. Inhibits activity of the coagulation protease factor Xa in the presence of SERPINA10, calcium and phospholipids.
• PDB: 3F1S, 3H5C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00594	Gla	46 → 86	Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain	Domain
  PF00008	EGF	91 → 121	EGF-like domain	Domain
  PF00089	Trypsin	177 → 395	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Plasma.
• Sequence:

  MAGCVPLLQGLVLVLALHRVEPSVFLPASKANDVLVRWKRAGSYLLEELFEGNLEKECYE
  EICVYEEAREVFENEVVTDEFWRRYKGGSPCISQPCLHNGSCQDSIWGYTCTCSPGYEGS
  NCELAKNECHPERTDGCQHFCLPGQESYTCSCAQGYRLGEDHKQCVPHDQCACGVLTSEK
  RAPDLQDLPWQVKLTNSEGKDFCGGVIIRENFVLTTAKCSLLHRNITVKTYFNRTSQDPL
  MIKITHVHVHMRYDADAGENDLSLLELEWPIQCPGAGLPVCTPEKDFAEHLLIPRTRGLL
  SGWARNGTDLGNSLTTRPVTLVEGEECGQVLNVTVTTRTYCERSSVAAMHWMDGSVVTRE
  HRGSWFLTGVLGSQPVGGQAHMVLVTKVSRYSLWFKQIMN

• Sequence length: 400

Pathways

Reactome:

Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal bleeding	Uncertain significance	rs200554916	RCV001270541
Protein Z deficiency	Uncertain significance; Likely benign; Affects	rs760768749, rs146398692, rs148527063, rs3024778	RCV003388239 RCV003388262 RCV003444506 RCV000022728
PROZ-related disorder	Likely benign; Benign	rs757353205, rs372086805, rs3024772, rs114412052	RCV003909751 RCV003947031 RCV003972287 RCV003950462
Thrombocytopenia	Uncertain significance	rs200554916	RCV001270541

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Chest Syndrome	Associate	28548215
Anemia Sickle Cell	Associate	28548215
Carcinoma Hepatocellular	Associate	36140703
Neoplasms	Associate	36140703
Pre Eclampsia	Associate	35588731
Pulmonary Heart Disease	Associate	28548215
Status Asthmaticus	Associate	28548215
Thromboembolism	Associate	19050305
Thrombophilia	Associate	37098010