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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169613
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 784
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71814
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48039
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 500
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 453
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.91
    Marker Score: 366
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5206
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5283
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.85
    Marker Score: 780
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.78
    Marker Score: 1583.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1253
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 388
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2964
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 643
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.68
    Marker Score: 206
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.65
    Marker Score: 1637
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.63
    Marker Score: 9921
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 441
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.54
    Marker Score: 144
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5
    Marker Score: 320
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.45
    Marker Score: 858.5
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.45
    Marker Score: 446
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.39
    Marker Score: 2356
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.39
    Marker Score: 214
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.38
    Marker Score: 224
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.37
    Marker Score: 224
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.37
    Marker Score: 116
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.33
    Marker Score: 777
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.33
    Marker Score: 105
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.32
    Marker Score: 100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3
    Marker Score: 1254
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.29
    Marker Score: 194
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.28
    Marker Score: 189
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.28
    Marker Score: 117
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.28
    Marker Score: 444
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.27
    Marker Score: 131
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.27
    Marker Score: 78
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.26
    Marker Score: 661
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.25
    Marker Score: 199
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.25
    Marker Score: 361
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.24
    Marker Score: 160
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.23
    Marker Score: 116
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.23
    Marker Score: 240
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.22
    Marker Score: 129
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.21
    Marker Score: 2861
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 72
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.21
    Marker Score: 720.5
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.21
    Marker Score: 48
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.21
    Marker Score: 85
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.21
    Marker Score: 54
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.2
    Marker Score: 221
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.2
    Marker Score: 115
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.2
    Marker Score: 63
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.2
    Marker Score: 111
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.19
    Marker Score: 85
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.19
    Marker Score: 103
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.19
    Marker Score: 349
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.19
    Marker Score: 54
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.19
    Marker Score: 111
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.18
    Marker Score: 45
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.18
    Marker Score: 4063
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.18
    Marker Score: 329
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.18
    Marker Score: 640
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.18
    Marker Score: 195
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.17
    Marker Score: 51
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.17
    Marker Score: 166
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.17
    Marker Score: 361
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.17
    Marker Score: 242
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.17
    Marker Score: 62
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.17
    Marker Score: 1078
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.17
    Marker Score: 384
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.16
    Marker Score: 80
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.16
    Marker Score: 85
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.16
    Marker Score: 56
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.16
    Marker Score: 4199
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.16
    Marker Score: 413
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.16
    Marker Score: 191
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.16
    Marker Score: 172
  • Cell Name: activated CD8-positive, alpha-beta T cell, human (CL0001049)
    Fold Change: 0.16
    Marker Score: 37
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.16
    Marker Score: 2893
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.16
    Marker Score: 165
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.16
    Marker Score: 3459
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.16
    Marker Score: 58
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.16
    Marker Score: 125
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.16
    Marker Score: 65
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.16
    Marker Score: 380
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.16
    Marker Score: 41
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.16
    Marker Score: 107
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.16
    Marker Score: 8766
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.16
    Marker Score: 35
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.16
    Marker Score: 34
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.16
    Marker Score: 35
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.16
    Marker Score: 156

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Other Information

**Key characteristics:** - HFE is a multi-functional protein that is involved in multiple cellular processes. - It is a key regulator of iron homeostasis, and its expression is controlled by a variety of factors, including iron levels, cytokines, and hormones. - It is also involved in the processing and presentation of peptides derived from iron-rich proteins. - It is a key regulator of the immune response, and its expression is upregulated in inflammatory diseases. **Pathways and functions:** - The HFE gene is involved in the processing and presentation of peptides derived from iron-rich proteins. - It does this by binding to the iron-loaded protein and facilitating its degradation into smaller peptides. - These peptides are then presented on the surface of antigen-presenting cells, such as macrophages and dendritic cells. - The HFE protein is also involved in the regulation of the immune response. It is expressed in immune cells, and its expression is upregulated in inflammatory diseases. - This suggests that HFE plays a role in the regulation of immune responses to iron. **Clinical significance:** - Mutations in the HFE gene have been linked to several human diseases, including hereditary hemochromatosis, which is characterized by excessive iron absorption and storage in the body. - The HFE protein is also involved in the regulation of inflammation, and mutations in the gene have been linked to inflammatory diseases such as rheumatoid arthritis and Crohn's disease. - Therefore, the HFE gene is an important target for the treatment of human diseases that are characterized by abnormal iron homeostasis.

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 EPD 1 Ensembl 9 EvolutionaryTrace 1 ExpressionAtlas 1 GO 45 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 4 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: 3918685013

Symbol: B4DV50_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DV50

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 GO 1 Gene3D 2 GenomeRNAi 1 InterPro 9 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

Genular Protein ID: 3624605256

Symbol: F8W7W8_HUMAN

Name: N/A

UniProtKB Accession Codes:

F8W7W8

Database IDs:

ARBA 10 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 2 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 9 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 3 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 2 SMART 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 14574404

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

PubMed ID: 14574404

DOI: 10.1038/nature02055

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

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. For the full schema, download it here.