ITIH1 Gene Summary [Human]
This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | ITIH1 |
| Official Name | inter-alpha-trypsin inhibitor heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:6166] |
| Ensembl ID | ENSG00000055957 |
| Bio databases IDs | |
| Aliases | inter-alpha-trypsin inhibitor heavy chain 1 |
| Synonyms | H1P, HC1, I alpha I HC1, IATIH, IGHEP1, inter-alpha trypsin inhibitor, heavy chain 1, inter-alpha-trypsin inhibitor heavy chain 1, inter-α trypsin inhibitor, heavy chain 1, inter-α-trypsin inhibitor heavy chain 1, Intin1, ITIH, ITI-HC1, I α I HC1, 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 ITIH1 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
- Vault protein inter-alpha-trypsin domain
- von Willebrand factor (vWF) type A domain
- vWFA
- calcium ion binding
- von Willebrand factor type A domain
- protein binding
- carbohydrate binding
- hyaluronic acid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteoarthritis
- hypertension
- anxiety disorder
- schizophrenia
- carpal tunnel syndrome
- bipolar disorder
- Parkinson disease
- hip or knee osteoarthritis
- open-angle glaucoma
- schizoaffective disorder
role in cell
- proliferation
- expression in
- apoptosis
- production in
- downregulation in
- phagocytosis
- cell spreading
- attachment
- phagocytosis by
- organization
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
- extracellular matrix
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ITIH1 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
- blood microparticle
- extracellular region
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity
- protein binding
- calcium ion binding
- hyaluronic acid binding
- carbohydrate binding