We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
HFE
HPA
RESOURCES
  • TISSUE
  • BRAIN
  • SINGLE CELL
  • SUBCELLULAR
  • CANCER
  • BLOOD
  • CELL LINE
  • STRUCTURE & INTERACTION
ABOUT
  • INTRODUCTION
  • HISTORY
  • ORGANIZATION
  • PUBLICATIONS
  • ANTIBODY SUBMISSION
  • ANTIBODY AVAILABILITY
  • ACKNOWLEDGMENTS
  • CONTACT
NEWS
  • NEWS ARTICLES
  • PRESS ROOM
LEARN
  • DICTIONARY
  • PROTEIN CLASSES
  • PROTEIN EVIDENCE
  • METHODS
  • EDUCATIONAL VIDEOS
DATA
  • DOWNLOADABLE DATA
  • PUBLICATION DATA
  • RELEASE HISTORY
HELP
  • ANTIBODY VALIDATION
  • ASSAYS & ANNOTATION
  • DISCLAIMER
  • HELP & FAQ
  • PRIVACY STATEMENT
  • LICENCE & CITATION
Fields »
Search result

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • HFE
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
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).

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.

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 109)
Entrez gene 3077
HGNC HGNC:4886
UniProt Q30201 (UniProt - Evidence at protein level)
neXtProt NX_Q30201
GeneCards HFE
Antibodypedia HFE antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.... show less
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Ion transport, Iron transport, Transport
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Iron
Gene summary (Entrez)i

Useful information about the gene from Entrez

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]... show less
PROTEIN INFORMATIONi

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

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL 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
   Endocrine and metabolic diseases
   Diabetes
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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: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: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
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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: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: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
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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: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: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
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
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: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: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: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: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
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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: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: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
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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: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:0034756 [regulation of iron ion transport]
GO:0039706 [co-receptor binding]
GO:0042446 [hormone biosynthetic process]
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:0060586 [multicellular organismal 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
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
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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: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: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
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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: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: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
   Endocrine and metabolic diseases
   Diabetes
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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
   Endocrine and metabolic diseases
   Diabetes
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0016020 [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
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
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: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: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: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

Contact

  • NEWS ARTICLES
  • PRESS ROOM

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS

The Human Protein Atlas

  • DOWNLOADABLE DATA
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


contact@proteinatlas.org