InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HFE

Summary

InnateDB Protein

IDBP-67376.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HFE

Protein Name

hemochromatosis

Synonyms

HFE1; HH; HLA-H; MVCD7; TFQTL2;

Species

Homo sapiens

Ensembl Protein

ENSP00000259699

InnateDB Gene

IDBG-67372 (HFE)

Protein Structure

UniProt Annotation

Function

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. {ECO:0000269PubMed:9465039}.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Hemochromatosis 1 (HFE1) [MIM:235200]: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO:0000269PubMed:10094552, ECO:0000269PubMed:10194428, ECO:0000269PubMed:10401000, ECO:0000269PubMed:10575540, ECO:0000269PubMed:11423500, ECO:0000269PubMed:11446670, ECO:0000269PubMed:12542741, ECO:0000269PubMed:12584229, ECO:0000269PubMed:12737937, ECO:0000269PubMed:14633868, ECO:0000269PubMed:15046077, ECO:0000269PubMed:18157833, ECO:0000269PubMed:8696333, ECO:0000269PubMed:9024376, ECO:0000269PubMed:9106528, ECO:0000269PubMed:9620340, ECO:0000269Ref.25}. Note=The disease is caused by mutations affecting the gene represented in this entry.Variegate porphyria (VP) [MIM:176200]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Iron overload due to HFE variants is a precipitating or exacerbating factor in variegate porphyria.Microvascular complications of diabetes 7 (MVCD7) [MIM:612635]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end- stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed in all tissues tested except brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.

Experimentally validated
Total	16 [view]
Protein-Protein	16 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005515	protein binding
GO:0042605	peptide antigen binding

Biological Process

GO:0001916	positive regulation of T cell mediated cytotoxicity
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I
GO:0006461	protein complex assembly
GO:0006879	cellular iron ion homeostasis
GO:0006955	immune response
GO:0019882	antigen processing and presentation
GO:0097459	iron ion import into cell

Cellular Component

GO:0005769	early endosome
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0031410	cytoplasmic vesicle
GO:0042612	MHC class I protein complex
GO:0045177	apical part of cell
GO:0045178	basal part of cell
GO:0048471	perinuclear region of cytoplasm
GO:0055037	recycling endosome

Protein Structure and Domains

PDB ID

InterPro

IPR001039 MHC class I alpha chain, alpha1 alpha2 domains
IPR003597 Immunoglobulin C1-set
IPR007110 Immunoglobulin-like domain
IPR011162 MHC classes I/II-like antigen recognition protein
IPR027648 MHC class I alpha chain

PFAM

PF00129
PF07654

PRINTS

PR01638

PIRSF

SMART

SM00407

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt