Homo sapiens Protein: HFE | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-481393.4 | ||||||||||||||||||
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 | ENSP00000420559 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00129
PF07654 |
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PRINTS |
PR01638
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PIRSF | |||||||||||||||||||
SMART |
SM00407
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q30201 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q30201 | ||||||||||||||||||
TrEMBL | I1VA72 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 3077 | ||||||||||||||||||
UniGene | Hs.738117 | ||||||||||||||||||
RefSeq | NP_620577 | ||||||||||||||||||
HUGO | HGNC:4886 | ||||||||||||||||||
OMIM | 613609 | ||||||||||||||||||
CCDS | CCDS54975 | ||||||||||||||||||
HPRD | 01993 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF079407 AF079408 AF079409 AF115264 AF115265 AF144240 AF144242 AF149804 AJ249335 AJ249336 AJ249337 AJ249338 AJ250635 BC117201 BC117203 CH471087 EU523119 JN375756 JN375757 JN375758 JN375759 JN858967 JN858968 JN858969 JN858970 JN858971 JN858972 JN858974 JN858975 JN987865 JN987866 JN987867 JN987868 JN987869 JN987870 JQ886465 JQ886466 JQ886467 JQ886468 JQ886475 JQ886488 U60319 U91328 Y09799 Y09800 Y09801 Y09803 Z92910 | ||||||||||||||||||
GenPept | AAB82083 AAC51823 AAC62646 AAC62647 AAC62648 AAG29342 AAG29571 AAG29572 AAG29575 AAG29577 AAI17202 AAI17204 ACB21042 AEO50369 AEO50370 AEO50371 AEO50372 AEX30801 AEX30802 AEX30803 AEX30804 AEX30805 AEX30806 AEX30808 AEX30809 AEX91880 AEX91881 AEX91882 AEX91883 AEX91884 AEX91885 AFI39663 AFI39664 AFI39665 AFI39666 AFI39673 AFI39686 CAA70934 CAB07442 CAC67792 CAC67793 CAC67794 CAC67795 CAC80805 EAW55524 EAW55526 | ||||||||||||||||||