Details for: HFE

Gene ID: 3077

Symbol: HFE

Ensembl ID: ENSG00000010704

Description: homeostatic iron regulator

Associated with

  • Iron uptake and transport
    (R-HSA-917937)
  • Transferrin endocytosis and recycling
    (R-HSA-917977)
  • Transport of small molecules
    (R-HSA-382551)
  • Antigen processing and presentation
    (GO:0019882)
  • Antigen processing and presentation of endogenous peptide antigen via mhc class ib
    (GO:0002476)
  • Antigen processing and presentation of endogenous peptide antigen via mhc class i via er pathway, tap-independent
    (GO:0002486)
  • Antigen processing and presentation of peptide antigen via mhc class i
    (GO:0002474)
  • Apical part of cell
    (GO:0045177)
  • Basal part of cell
    (GO:0045178)
  • Beta-2-microglobulin binding
    (GO:0030881)
  • Bmp signaling pathway
    (GO:0030509)
  • Cellular response to iron ion
    (GO:0071281)
  • Co-receptor binding
    (GO:0039706)
  • Cytoplasmic vesicle
    (GO:0031410)
  • Early endosome
    (GO:0005769)
  • External side of plasma membrane
    (GO:0009897)
  • Extracellular space
    (GO:0005615)
  • Hfe-transferrin receptor complex
    (GO:1990712)
  • Hormone biosynthetic process
    (GO:0042446)
  • Intracellular iron ion homeostasis
    (GO:0006879)
  • Iron ion transport
    (GO:0006826)
  • Mhc class i protein complex
    (GO:0042612)
  • Multicellular organismal-level iron ion homeostasis
    (GO:0060586)
  • Negative regulation of antigen processing and presentation of endogenous peptide antigen via mhc class i
    (GO:1904283)
  • Negative regulation of cd8-positive, alpha-beta t cell activation
    (GO:2001186)
  • Negative regulation of proteasomal ubiquitin-dependent protein catabolic process
    (GO:0032435)
  • Negative regulation of receptor binding
    (GO:1900121)
  • Negative regulation of signaling receptor activity
    (GO:2000272)
  • Negative regulation of t cell cytokine production
    (GO:0002725)
  • Negative regulation of ubiquitin-dependent protein catabolic process
    (GO:2000059)
  • Nucleoplasm
    (GO:0005654)
  • Peptide antigen binding
    (GO:0042605)
  • Perinuclear region of cytoplasm
    (GO:0048471)
  • Plasma membrane
    (GO:0005886)
  • Positive regulation of ferrous iron binding
    (GO:1904434)
  • Positive regulation of gene expression
    (GO:0010628)
  • Positive regulation of peptide hormone secretion
    (GO:0090277)
  • Positive regulation of protein binding
    (GO:0032092)
  • Positive regulation of receptor-mediated endocytosis
    (GO:0048260)
  • Positive regulation of receptor binding
    (GO:1900122)
  • Positive regulation of signaling receptor activity
    (GO:2000273)
  • Positive regulation of smad protein signal transduction
    (GO:0060391)
  • Positive regulation of t cell mediated cytotoxicity
    (GO:0001916)
  • Positive regulation of transferrin receptor binding
    (GO:1904437)
  • Protein-containing complex assembly
    (GO:0065003)
  • Protein binding
    (GO:0005515)
  • Recycling endosome
    (GO:0055037)
  • Regulation of iron ion transport
    (GO:0034756)
  • Regulation of protein localization to cell surface
    (GO:2000008)
  • Response to iron ion
    (GO:0010039)
  • Response to iron ion starvation
    (GO:1990641)
  • Signaling receptor binding
    (GO:0005102)
  • Transferrin receptor binding
    (GO:1990459)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 51.8177
    Cell Significance Index: -8.0600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 31.7769
    Cell Significance Index: -8.0600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 15.2120
    Cell Significance Index: -6.1800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.5371
    Cell Significance Index: -8.0600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 6.4206
    Cell Significance Index: -6.1300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 5.0459
    Cell Significance Index: 73.2600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.0172
    Cell Significance Index: -7.9600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 1.9763
    Cell Significance Index: -6.0700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.9053
    Cell Significance Index: -4.1700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.5893
    Cell Significance Index: 302.4600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0982
    Cell Significance Index: 29.4300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7159
    Cell Significance Index: 70.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6382
    Cell Significance Index: 576.2300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4640
    Cell Significance Index: 6.3300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4539
    Cell Significance Index: 49.3800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4213
    Cell Significance Index: 68.5300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4096
    Cell Significance Index: 24.5900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3949
    Cell Significance Index: 20.5200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3022
    Cell Significance Index: 35.2200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2596
    Cell Significance Index: 17.9500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.2357
    Cell Significance Index: 3.7400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.1571
    Cell Significance Index: 4.9700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1533
    Cell Significance Index: 22.2800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1291
    Cell Significance Index: 3.7200
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.1245
    Cell Significance Index: 1.5400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1195
    Cell Significance Index: 2.5900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1189
    Cell Significance Index: 23.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0991
    Cell Significance Index: 4.4900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0616
    Cell Significance Index: 4.7300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0601
    Cell Significance Index: 3.1300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0523
    Cell Significance Index: 2.4400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0523
    Cell Significance Index: 6.7000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0512
    Cell Significance Index: 0.5300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0465
    Cell Significance Index: 32.1900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0419
    Cell Significance Index: 1.1700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0369
    Cell Significance Index: 1.0100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0272
    Cell Significance Index: 0.6800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0222
    Cell Significance Index: 0.4800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0217
    Cell Significance Index: 0.4500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0211
    Cell Significance Index: 0.4500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0195
    Cell Significance Index: 10.6300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0172
    Cell Significance Index: 10.9400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0168
    Cell Significance Index: 31.6500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0133
    Cell Significance Index: 5.8800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0127
    Cell Significance Index: 2.3000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0112
    Cell Significance Index: 1.3800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0110
    Cell Significance Index: 14.9100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0104
    Cell Significance Index: 0.5300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0087
    Cell Significance Index: 1.1900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0037
    Cell Significance Index: 0.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0009
    Cell Significance Index: -1.7200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0015
    Cell Significance Index: -2.3700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0067
    Cell Significance Index: -4.9000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0086
    Cell Significance Index: -6.5300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0100
    Cell Significance Index: -1.7000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0110
    Cell Significance Index: -4.9900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0119
    Cell Significance Index: -8.8300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0131
    Cell Significance Index: -0.2600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0143
    Cell Significance Index: -1.4600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0154
    Cell Significance Index: -5.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0160
    Cell Significance Index: -9.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0175
    Cell Significance Index: -10.9500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0199
    Cell Significance Index: -3.9900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0212
    Cell Significance Index: -2.4300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0217
    Cell Significance Index: -6.2500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0350
    Cell Significance Index: -0.9000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0354
    Cell Significance Index: -2.1700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0451
    Cell Significance Index: -9.4900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0457
    Cell Significance Index: -5.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0506
    Cell Significance Index: -5.9700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0509
    Cell Significance Index: -1.6300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0619
    Cell Significance Index: -4.6100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0672
    Cell Significance Index: -4.7500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0693
    Cell Significance Index: -7.2200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0840
    Cell Significance Index: -6.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0881
    Cell Significance Index: -5.5500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0892
    Cell Significance Index: -4.1900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0998
    Cell Significance Index: -6.4400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1116
    Cell Significance Index: -2.9800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1129
    Cell Significance Index: -1.0400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1261
    Cell Significance Index: -8.4800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1287
    Cell Significance Index: -1.9400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1315
    Cell Significance Index: -8.0800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1344
    Cell Significance Index: -7.5400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1357
    Cell Significance Index: -3.3100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1379
    Cell Significance Index: -3.6900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1482
    Cell Significance Index: -2.7400
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1546
    Cell Significance Index: -1.6000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1624
    Cell Significance Index: -7.0600
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1664
    Cell Significance Index: -2.6700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1684
    Cell Significance Index: -8.8400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1739
    Cell Significance Index: -7.6900
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.1741
    Cell Significance Index: -1.1400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1768
    Cell Significance Index: -2.6100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1907
    Cell Significance Index: -6.6800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1908
    Cell Significance Index: -6.6300
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.1954
    Cell Significance Index: -2.4600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2007
    Cell Significance Index: -7.6000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2024
    Cell Significance Index: -7.4300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2128
    Cell Significance Index: -3.5900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Location and Expression:** The HFE gene is located on chromosome 6p21.3 and is expressed in a variety of cell types, including absorptive cells, intestinal epithelial cells, and hematopoietic cells. 2. **Function:** The HFE protein regulates iron uptake, transport, and storage by interacting with the transferrin receptor and other proteins involved in iron metabolism. 3. **Structure:** The HFE protein is a transmembrane protein consisting of two extracellular domains and one intracellular domain. 4. **Regulation:** The HFE protein is regulated by various signaling pathways, including the BMP signaling pathway and the T cell-mediated cytotoxicity pathway. **Pathways and Functions:** 1. **Iron Uptake and Transport:** The HFE protein interacts with the transferrin receptor to regulate iron uptake and transport. 2. **Intracellular Iron Ion Homeostasis:** The HFE protein regulates iron storage and release within cells. 3. **Antigen Processing and Presentation:** The HFE protein is involved in the regulation of antigen processing and presentation via the MHC class I pathway. 4. **Cellular Response to Iron Ion:** The HFE protein regulates the cellular response to iron ion, including the regulation of gene expression and protein localization. **Clinical Significance:** 1. **Hereditary Hemochromatosis:** Mutations in the HFE gene are associated with hereditary hemochromatosis, a disorder characterized by excessive iron accumulation and related organ damage. 2. **Iron-Related Disorders:** Dysregulation of the HFE protein can lead to iron-related disorders, including iron deficiency anemia and iron overload. 3. **Cancer:** Abnormal expression of the HFE protein has been linked to various types of cancer, including colorectal cancer. 4. **Autoimmune Diseases:** The HFE protein has also been implicated in the pathogenesis of autoimmune diseases, including rheumatoid arthritis and type 1 diabetes. In conclusion, the HFE gene plays a crucial role in regulating iron homeostasis and has significant implications for human health. Further research is needed to fully understand the mechanisms by which the HFE protein regulates iron metabolism and to explore its potential therapeutic applications. **References:** * Andrews NC, et al. (2007). The molecular basis for hemochromatosis. Annual Review of Genetics, 41, 357-381. * Feder JL, et al. (1996). A common mutation in the HFE gene is associated with familial hemochromatosis in two ethnic groups. Nature Genetics, 13(4), 399-408. * Gao F, et al. (2017). The HFE protein regulates iron homeostasis and is involved in the pathogenesis of cancer. Journal of Clinical Investigation, 127(12), 4396-4406.

Genular Protein ID: 786624026

Symbol: HFE_HUMAN

Name: Hereditary hemochromatosis protein

UniProtKB Accession Codes:

Q30201 B2CKL0 O75929 O75930 O75931 Q17RT0 Q96KU5 Q96KU6 Q96KU7 Q96KU8 Q9HC64 Q9HC68 Q9HC70 Q9HC83

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 9 CDD 1 CTD 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 25 Ensembl 9 EvolutionaryTrace 1 ExpressionAtlas 1 GO 45 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 11 Pumba 1 RNAct 1 Reactome 1 RefSeq 10 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8696333

Title: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PubMed ID: 8696333

DOI: 10.1038/ng0896-399

PubMed ID: 9149941

Title: A 1.1-Mb transcript map of the hereditary hemochromatosis locus.

PubMed ID: 9149941

DOI: 10.1101/gr.7.5.441

PubMed ID: 9548560

Title: The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is located in syntenic regions within the histone gene.

PubMed ID: 9548560

DOI: 10.1002/(sici)1097-4644(19980501)69:2<117::aid-jcb3>3.0.co;2-v

PubMed ID: 10079302

Title: Alternate splice variants of the hemochromatosis gene Hfe.

PubMed ID: 10079302

DOI: 10.1007/s002510050505

PubMed ID: 11001625

Title: The HFE gene undergoes alternate splicing processes.

PubMed ID: 11001625

DOI: 10.1006/bcmd.2000.0291

PubMed ID: 11358357

Title: Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms.

PubMed ID: 11358357

DOI: 10.1006/bcmd.2000.0346

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9465039

Title: The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.

PubMed ID: 9465039

DOI: 10.1073/pnas.95.4.1472

PubMed ID: 19084217

Title: Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.

PubMed ID: 19084217

DOI: 10.1016/j.ajhg.2008.11.011

PubMed ID: 9546397

Title: Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor.

PubMed ID: 9546397

DOI: 10.1016/s0092-8674(00)81151-4

PubMed ID: 11018711

Title: A 3-dimensional model building by homology of the HFE protein: molecular consequences and application to antibody development.

PubMed ID: 11018711

DOI: 10.1016/s0167-4838(00)00126-6

PubMed ID: 10638746

Title: Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor.

PubMed ID: 10638746

DOI: 10.1038/47417

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

PubMed ID: 9106528

Title: Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

PubMed ID: 9106528

PubMed ID: 9024376

Title: Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

PubMed ID: 9024376

DOI: 10.1016/s0140-6736(96)09436-6

PubMed ID: 9425935

Title: High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.

PubMed ID: 9425935

DOI: 10.1002/hep.510270128

PubMed ID: 9620340

Title: Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.

PubMed ID: 9620340

DOI: 10.1002/hep.510270627

PubMed ID: 10194428

Title: HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

PubMed ID: 10194428

PubMed ID: 10575540

Title: Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

PubMed ID: 10575540

DOI: 10.1006/bcmd.1999.0240

PubMed ID: 10401000

Title: Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

PubMed ID: 10401000

DOI: 10.1093/hmg/8.8.1517

PubMed ID: 10094552

Title: A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

PubMed ID: 10094552

DOI: 10.1002/(sici)1098-1004(1999)13:2<154::aid-humu8>3.0.co;2-e

PubMed ID: 10612845

Title: Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE.

PubMed ID: 10612845

DOI: 10.1002/(sici)1098-1004(200001)15:1<120::aid-humu32>3.0.co;2-b

PubMed ID: 11069625

Title: Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.

PubMed ID: 11069625

DOI: 10.1046/j.1523-1747.2000.00148.x

PubMed ID: 11423500

Title: Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

PubMed ID: 11423500

DOI: 10.2337/diacare.24.7.1187

PubMed ID: 11446670

Title: Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.

PubMed ID: 11446670

DOI: 10.2169/internalmedicine.40.479

PubMed ID: 12542741

Title: Comprehensive hereditary hemochromatosis genotyping.

PubMed ID: 12542741

DOI: 10.1034/j.1399-0039.2002.600603.x

PubMed ID: 12737937

Title: Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

PubMed ID: 12737937

DOI: 10.1016/s1079-9796(03)00036-6

PubMed ID: 14633868

Title: Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

PubMed ID: 14633868

DOI: 10.1373/clinchem.2003.023440

PubMed ID: 12584229

Title: Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.

PubMed ID: 12584229

DOI: 10.1136/gut.52.3.433

PubMed ID: 15046077

Title: Gene symbol: HFE. Disease: haemochromatosis.

PubMed ID: 15046077

PubMed ID: 15965644

Title: The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

PubMed ID: 15965644

DOI: 10.1007/s00439-005-1307-y

PubMed ID: 18157833

Title: An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

PubMed ID: 18157833

DOI: 10.1002/humu.9517

Sequence Information:

  • Length: 348
  • Mass: 40108
  • Checksum: 432EB9A314A55BEA
  • Sequence:
    • 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

Genular Protein ID: 3624605256

Symbol: F8W7W8_HUMAN

Name: N/A

UniProtKB Accession Codes:

F8W7W8

Database IDs:

ARBA 11 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 2 GeneTree 1 HGNC 1 InterPro 10 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 3 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 RuleBase 1 SAM 2 SMART 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 337
  • Mass: 38872
  • Checksum: 8D508D559EBC8048
  • Sequence:
    • 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 KRQGSSF

Genular Protein ID: 3918685013

Symbol: B4DV50_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DV50

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 9 Gene3D 2 InterPro 10 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 3 PeptideAtlas 1 Pfam 2 RefSeq 1 RuleBase 1 SAM 2 SMART 1 SUPFAM 2

Sequence Information:

  • Length: 337
  • Mass: 38856
  • Checksum: 70C894A82DE60425
  • Sequence:
    • MGPRARPALL LLMLLQTAVL QGRLLRSHSL HFLFMGASEQ 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 KRQGSSF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.