Hfe - homeostatic iron regulator Gene
Also Known as MR2
Species: Mus musculus
Summary
Enables Transferrin Receptor binding activity. Involved in positive regulation of gene expression. Acts upstream of or within hormone biosynthetic process and multicellular organismal iron ion homeostasis. Part of HFE-transferrin receptor complex. Is expressed in brain; choroid invagination; diencephalon roof plate; medulla oblongata part of 4th ventricle choroid plexus; and metencephalon part of 4th ventricle choroid plexus. Used to study hemochromatosis type 1. Human ortholog(s) of this gene implicated in several diseases, including acute porphyria (multiple); arthritis (multiple); bone marrow Cancer (multiple); hemochromatosis (multiple); and liver disease (multiple). Orthologous to human HFE (homeostatic iron regulator). [provided by Alliance of Genome Resources, Apr 2022]
Hfe Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001347493.1 | NP_001334422.1 | hereditary hemochromatosis protein homolog isoform b precursor |
| NM_010424.5 | NP_034554.2 | hereditary hemochromatosis protein homolog isoform a precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables transferrin receptor binding |
IPI
IPI: Inferred from physical interaction
|
16893896 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within hormone biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
15914561 | MGI |
| acts upstream of or within multicellular organismal-level iron ion homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
10077651 | MGI |
| involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
24904118 | MGI |
| involved in positive regulation of gene expression |
IMP
IMP: Inferred from mutant phenotype
|
24904118 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of HFE-transferrin receptor complex |
IDA
IDA: Inferred from direct assay
|
16893896 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hereditary hemochromatosis protein homolog |
|