ITIH3 Gene Summary [Human]
This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]
Details
| Type | Retained Intron |
| Official Symbol | ITIH3 |
| Official Name | inter-alpha-trypsin inhibitor heavy chain 3 [Source:HGNC Symbol;Acc:HGNC:6168] |
| Ensembl ID | ENSG00000162267 |
| Bio databases IDs | |
| Aliases | inter-alpha-trypsin inhibitor heavy chain 3, pre-alpha (globulin) inhibitor, H3 polypeptide, inter-alpha-trypsin inhibitor heavy chain H3 |
| Synonyms | H3P, inter-alpha trypsin inhibitor, heavy chain 3, inter-alpha-trypsin inhibitor heavy chain 3, inter-α trypsin inhibitor, heavy chain 3, inter-α-trypsin inhibitor heavy chain 3, Intin3, ITI-HC3, PAIHC3, SHAP |
| 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 ITIH3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Inter-alpha-trypsin inhibitor heavy chain C-terminus
- endopeptidase inhibitor
- Vault protein inter-alpha-trypsin domain
- von Willebrand factor (vWF) type A domain
- vWFA
- von Willebrand factor type A domain
- protein binding
Pathways
Biological processes and signaling networks where the ITIH3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- schizophrenia
- COVID-19
- pervasive developmental disorder
- metabolic syndrome X
- bipolar disorder
- nonalcoholic steatohepatitis
- Huntington disease
- attention deficit hyperactivity disorder
- proliferative diabetic retinopathy
role in cell
- autophagy
- autophagy in
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
- secretory granule lumen
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ITIH3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- hyaluronan metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- platelet dense granule lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity
- protein binding
- endopeptidase inhibitor activity