|HFE_HUMAN » Hereditary hemochromatosis protein » HLA-H;|
|Hydrophobic Thickness||34.8 ± 5.0 Å|
|Tilt Angle||30 ± 0°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB|
|TM Segments||303-329 (301-332)|
|PDB||1a6z (A/C=23-297), 1de4 (A/D/G=23-297)|
AA: 26-202, PDBID: 1A6Z, Subunit A, Seq Identity:100%, Class I Histocompatibility antigen, domains alpha 1 and 2
|UniProt annotation for HFE_HUMAN » Hereditary hemochromatosis protein|
|FUNCTION: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. SUBUNIT: Binds TFR through the extracellular domain in a pH- dependent manner. TISSUE SPECIFICITY: Expressed in all tissues tested except brain. DISEASE: Hemochromatosis 1 (HFE1) OMIM: 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. affecting the gene represented in this entry. DISEASE: Variegate porphyria (VP) OMIM: 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. DISEASE: Microvascular complications of diabetes 7 (MVCD7) OMIM: 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.|
|UniProt features for HFE_HUMAN » Hereditary hemochromatosis protein|
SIGNAL 1 22 |
CHAIN 23 348 Hereditary hemochromatosis protein.
DOMAIN 207 298 Ig-like C1-type.
REGION 23 114 Alpha-1.
REGION 115 205 Alpha-2.
REGION 206 297 Alpha-3.
REGION 298 306 Connecting peptide.
DISULFID 124 187
DISULFID 225 282
|Amino Acid Sequence for HFE_HUMAN » Hereditary hemochromatosis protein|
|MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERE|