PROZ Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PROZ |
| Official Name | protein Z, vitamin K dependent plasma glycoprotein [Source:HGNC Symbol;Acc:HGNC:9460] |
| Ensembl ID | ENSG00000126231 |
| Bio databases IDs | |
| Aliases | protein Z, vitamin K dependent plasma glycoprotein |
| Synonyms | 1300015B06Rik, Protein Z, protein Z, vitamin K-dependent plasma glycoprotein, PZ, Vitamin K-dependent protein Z |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PROZ often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Trypsin-like serine protease
- Tryp_SPc
- peptidase
- Human growth factor-like EGF
- calcium ion binding
- protein binding
- Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
- Coagulation Factor Xa inhibitory site
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- liver cancer
- hepatocellular carcinoma
- organismal death
- diabetic nephropathy
- hepatitis B virus-related hepatocellular carcinoma
- aortic valve calcification
- thrombosis
- bleeding
- deficiency of protein z
phenotypes
- Cerebral sinovenous thrombosis
- NON RARE IN EUROPE: Non rare thrombophilia
- PROTEIN Z DEFICIENCY
role in cell
- expression in
- proliferation
- migration
- phosphorylation in
- invasion by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Golgi lumen
- endoplasmic reticulum lumen
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PROZ gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- proteolysis
- blood coagulation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- extracellular vesicular exosome
- Golgi lumen
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- serine-type endopeptidase activity