HEPH Gene Summary [Human]
This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | HEPH |
| Official Name | hephaestin [Source:HGNC Symbol;Acc:HGNC:4866] |
| Ensembl ID | ENSG00000089472 |
| Bio databases IDs | |
| Aliases | hephaestin |
| Synonyms | C130006F04Rik, CPL, hephaestin, Hp, image:5368562, mKIAA0698, sla |
| 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 HEPH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- copper ion binding
- Multicopper oxidase
- Cupredoxin superfamily
- protein binding
- ferroxidase
- transporter
Pathways
Biological processes and signaling networks where the HEPH 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
- neurodegeneration
- anemia
- androgenic alopecia
- focal cortical dysplasia of Taylor
- gestational diabetes mellitus
- autosomal dominant polycystic kidney disease
- motor dysfunction
- uterine serous papillary cancer
- experimental systemic lupus erythematosus
role in cell
- expression in
- accumulation 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.
- Plasma Membrane
- perinuclear region
- cellular membrane
- cytosol
- basolateral membrane
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HEPH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- copper ion transport
- iron ion transport
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- copper ion binding
- oxidoreductase activity
- ferrous iron binding
- ferroxidase activity