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HFE
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  • HFE
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

HFE
Synonyms HFE1, HLA-H
Gene descriptioni

Full gene name according to HGNC.

Homeostatic iron regulator
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Read more
Membrane
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 6
Cytoband p22.2
Chromosome location (bp) 26087281 - 26098343
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

12
Ensembl ENSG00000010704 (version 103.38)
Entrez gene 3077
HGNC HGNC:4886
UniProt Q30201 (UniProt - Evidence at protein level)
neXtProt NX_Q30201
Antibodypedia HFE antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 10      # Population variants: 195

Antigens:

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On

Variants:

Off
Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

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On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
HFE-201
HFE-202
HFE-203
HFE-204
HFE-205
HFE-206
HFE-207
HFE-208
HFE-209
HFE-210
HFE-212
HFE-214
»


PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
HFE-201
ENSP00000311698
ENST00000309234
F8W7W8 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0005654 [nucleoplasm]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0055072 [iron ion homeostasis]
GO:0098711 [iron ion import across plasma membrane]
GO:1990459 [transferrin receptor binding]
GO:1990712 [HFE-transferrin receptor complex]
Show all
337 aa
38.9 kDa
Yes 1
HFE-202
ENSP00000313776
ENST00000317896
Q30201 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005654 [nucleoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0009897 [external side of plasma membrane]
GO:0010039 [response to iron ion]
GO:0010628 [positive regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030509 [BMP signaling pathway]
GO:0030881 [beta-2-microglobulin binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032092 [positive regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033572 [transferrin transport]
GO:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0045177 [apical part of cell]
GO:0045178 [basal part of cell]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055037 [recycling endosome]
GO:0055072 [iron ion homeostasis]
GO:0065003 [protein-containing complex assembly]
GO:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0098711 [iron ion import across plasma membrane]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1904283 [negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I]
GO:1904434 [positive regulation of ferrous iron binding]
GO:1904437 [positive regulation of transferrin receptor binding]
GO:1990459 [transferrin receptor binding]
GO:1990641 [response to iron ion starvation]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000008 [regulation of protein localization to cell surface]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of signaling receptor activity]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
256 aa
29.2 kDa
Yes 1
HFE-203
ENSP00000337819
ENST00000336625
Q30201 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005654 [nucleoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0009897 [external side of plasma membrane]
GO:0010039 [response to iron ion]
GO:0010628 [positive regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030509 [BMP signaling pathway]
GO:0030881 [beta-2-microglobulin binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032092 [positive regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033572 [transferrin transport]
GO:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0045177 [apical part of cell]
GO:0045178 [basal part of cell]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055037 [recycling endosome]
GO:0055072 [iron ion homeostasis]
GO:0065003 [protein-containing complex assembly]
GO:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0098711 [iron ion import across plasma membrane]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1904283 [negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I]
GO:1904434 [positive regulation of ferrous iron binding]
GO:1904437 [positive regulation of transferrin receptor binding]
GO:1990459 [transferrin receptor binding]
GO:1990641 [response to iron ion starvation]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000008 [regulation of protein localization to cell surface]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of signaling receptor activity]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
242 aa
27.7 kDa
Yes 1
HFE-204
ENSP00000259699
ENST00000349999
Q30201 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005654 [nucleoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0009897 [external side of plasma membrane]
GO:0010039 [response to iron ion]
GO:0010628 [positive regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030509 [BMP signaling pathway]
GO:0030881 [beta-2-microglobulin binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032092 [positive regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033572 [transferrin transport]
GO:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0045177 [apical part of cell]
GO:0045178 [basal part of cell]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055037 [recycling endosome]
GO:0055072 [iron ion homeostasis]
GO:0065003 [protein-containing complex assembly]
GO:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0098711 [iron ion import across plasma membrane]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1904283 [negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I]
GO:1904434 [positive regulation of ferrous iron binding]
GO:1904437 [positive regulation of transferrin receptor binding]
GO:1990459 [transferrin receptor binding]
GO:1990641 [response to iron ion starvation]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000008 [regulation of protein localization to cell surface]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of signaling receptor activity]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
260 aa
29.6 kDa
Yes 1
HFE-205
ENSP00000315936
ENST00000352392
Q30201 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005654 [nucleoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0009897 [external side of plasma membrane]
GO:0010039 [response to iron ion]
GO:0010628 [positive regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030509 [BMP signaling pathway]
GO:0030881 [beta-2-microglobulin binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032092 [positive regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033572 [transferrin transport]
GO:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0045177 [apical part of cell]
GO:0045178 [basal part of cell]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055037 [recycling endosome]
GO:0055072 [iron ion homeostasis]
GO:0065003 [protein-containing complex assembly]
GO:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0098711 [iron ion import across plasma membrane]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1904283 [negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I]
GO:1904434 [positive regulation of ferrous iron binding]
GO:1904437 [positive regulation of transferrin receptor binding]
GO:1990459 [transferrin receptor binding]
GO:1990641 [response to iron ion starvation]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000008 [regulation of protein localization to cell surface]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of signaling receptor activity]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
76 aa
8.2 kDa
Yes 1
HFE-206
ENSP00000312342
ENST00000353147
Q30201 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005654 [nucleoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0009897 [external side of plasma membrane]
GO:0010039 [response to iron ion]
GO:0010628 [positive regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030509 [BMP signaling pathway]
GO:0030881 [beta-2-microglobulin binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032092 [positive regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033572 [transferrin transport]
GO:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0045177 [apical part of cell]
GO:0045178 [basal part of cell]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055037 [recycling endosome]
GO:0055072 [iron ion homeostasis]
GO:0065003 [protein-containing complex assembly]
GO:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0098711 [iron ion import across plasma membrane]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1904283 [negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I]
GO:1904434 [positive regulation of ferrous iron binding]
GO:1904437 [positive regulation of transferrin receptor binding]
GO:1990459 [transferrin receptor binding]
GO:1990641 [response to iron ion starvation]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000008 [regulation of protein localization to cell surface]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of signaling receptor activity]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
168 aa
18.7 kDa
Yes 1
HFE-207
ENSP00000417404
ENST00000357618
Q30201 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005654 [nucleoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0006953 [acute-phase response]
GO:0007565 [female pregnancy]
GO:0009897 [external side of plasma membrane]
GO:0010039 [response to iron ion]
GO:0010106 [cellular response to iron ion starvation]
GO:0010628 [positive regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030509 [BMP signaling pathway]
GO:0030881 [beta-2-microglobulin binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032092 [positive regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033572 [transferrin transport]
GO:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0045177 [apical part of cell]
GO:0045178 [basal part of cell]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055037 [recycling endosome]
GO:0055072 [iron ion homeostasis]
GO:0065003 [protein-containing complex assembly]
GO:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097421 [liver regeneration]
GO:0098711 [iron ion import across plasma membrane]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1904283 [negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I]
GO:1904434 [positive regulation of ferrous iron binding]
GO:1904437 [positive regulation of transferrin receptor binding]
GO:1990357 [terminal web]
GO:1990459 [transferrin receptor binding]
GO:1990641 [response to iron ion starvation]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000008 [regulation of protein localization to cell surface]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of signaling receptor activity]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
348 aa
40.1 kDa
Yes 1
HFE-208
ENSP00000380217
ENST00000397022
Q30201 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005654 [nucleoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0009897 [external side of plasma membrane]
GO:0010039 [response to iron ion]
GO:0010628 [positive regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030509 [BMP signaling pathway]
GO:0030881 [beta-2-microglobulin binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032092 [positive regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033572 [transferrin transport]
GO:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0045177 [apical part of cell]
GO:0045178 [basal part of cell]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055037 [recycling endosome]
GO:0055072 [iron ion homeostasis]
GO:0065003 [protein-containing complex assembly]
GO:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0098711 [iron ion import across plasma membrane]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1904283 [negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I]
GO:1904434 [positive regulation of ferrous iron binding]
GO:1904437 [positive regulation of transferrin receptor binding]
GO:1990459 [transferrin receptor binding]
GO:1990641 [response to iron ion starvation]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000008 [regulation of protein localization to cell surface]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of signaling receptor activity]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
325 aa
37.5 kDa
Yes 1
HFE-209
ENSP00000420802
ENST00000461397
Q30201 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005654 [nucleoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0009897 [external side of plasma membrane]
GO:0010039 [response to iron ion]
GO:0010628 [positive regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030509 [BMP signaling pathway]
GO:0030881 [beta-2-microglobulin binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032092 [positive regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033572 [transferrin transport]
GO:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0045177 [apical part of cell]
GO:0045178 [basal part of cell]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055037 [recycling endosome]
GO:0055072 [iron ion homeostasis]
GO:0065003 [protein-containing complex assembly]
GO:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0098711 [iron ion import across plasma membrane]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1904283 [negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I]
GO:1904434 [positive regulation of ferrous iron binding]
GO:1904437 [positive regulation of transferrin receptor binding]
GO:1990459 [transferrin receptor binding]
GO:1990641 [response to iron ion starvation]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000008 [regulation of protein localization to cell surface]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of signaling receptor activity]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
334 aa
38.6 kDa
Yes 1
HFE-210
ENSP00000419725
ENST00000470149
Q6B0J5 [Direct mapping]
HFE protein; Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0005654 [nucleoplasm]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0055072 [iron ion homeostasis]
GO:0098711 [iron ion import across plasma membrane]
GO:1990459 [transferrin receptor binding]
GO:1990712 [HFE-transferrin receptor complex]
Show all
345 aa
39.7 kDa
Yes 1
HFE-212
ENSP00000417534
ENST00000485729
H7C4K4 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
55 aa
6 kDa
No 1
HFE-214
ENSP00000420559
ENST00000488199
Q30201 [Direct mapping]
Hereditary hemochromatosis protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of ion transport and metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002626 [negative regulation of T cell antigen processing and presentation]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005654 [nucleoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0009897 [external side of plasma membrane]
GO:0010039 [response to iron ion]
GO:0010628 [positive regulation of gene expression]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030509 [BMP signaling pathway]
GO:0030881 [beta-2-microglobulin binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032092 [positive regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033572 [transferrin transport]
GO:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0045177 [apical part of cell]
GO:0045178 [basal part of cell]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055037 [recycling endosome]
GO:0055072 [iron ion homeostasis]
GO:0065003 [protein-containing complex assembly]
GO:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0098711 [iron ion import across plasma membrane]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1904283 [negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I]
GO:1904434 [positive regulation of ferrous iron binding]
GO:1904437 [positive regulation of transferrin receptor binding]
GO:1990459 [transferrin receptor binding]
GO:1990641 [response to iron ion starvation]
GO:1990712 [HFE-transferrin receptor complex]
GO:2000008 [regulation of protein localization to cell surface]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of signaling receptor activity]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
246 aa
28.2 kDa
Yes 1

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