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HFE

GENERAL INFORMATION

Gene name

 HFE

Gene description

 Hemochromatosis

Protein class

 Disease related genes
Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 12
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA017276 , HPA053470
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 HFE (HGNC Symbol)

Synonyms

 HLA-H

Description

 Hemochromatosis (HGNC Symbol)

Entrez gene summary

 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. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Chromosome

 6

Cytoband

 p22.2

Chromosome location (bp)

 26087281 - 26098343

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000010704 (version 83.38)

Entrez gene

 3077

UniProt

 Q30201 (UniProt - Evidence at protein level)

neXtProt

 NX_Q30201

Antibodypedia

 HFE antibodies

PROTEIN BROWSER
«
HFE-001
HFE-003
HFE-004
HFE-005
HFE-006
HFE-007
HFE-011
HFE-012
HFE-014
HFE-015
HFE-019
HFE-024
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HFE-001
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006461 [protein complex assembly]
GO:0006879 [cellular iron ion homeostasis]
GO:0006953 [acute-phase response]
GO:0006955 [immune 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: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: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:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097421 [liver regeneration]
GO:0097459 [iron ion import into cell]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1903991 [positive regulation of ferrous iron import into cell]
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:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of receptor activity]
GO:2000273 [positive regulation of receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
 348 aa
40.1 kDa 		Yes 1
HFE-003
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006461 [protein complex assembly]
GO:0006879 [cellular iron ion homeostasis]
GO:0006955 [immune response]
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: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: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:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097459 [iron ion import into cell]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1903991 [positive regulation of ferrous iron import into cell]
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:1990712 [HFE-transferrin receptor complex]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of receptor activity]
GO:2000273 [positive regulation of receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
 76 aa
8.2 kDa 		Yes 1
HFE-004
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006461 [protein complex assembly]
GO:0006879 [cellular iron ion homeostasis]
GO:0006955 [immune response]
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: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: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:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097459 [iron ion import into cell]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1903991 [positive regulation of ferrous iron import into cell]
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:1990712 [HFE-transferrin receptor complex]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of receptor activity]
GO:2000273 [positive regulation of receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
 260 aa
29.6 kDa 		Yes 1
HFE-005
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006461 [protein complex assembly]
GO:0006879 [cellular iron ion homeostasis]
GO:0006955 [immune response]
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: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: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:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097459 [iron ion import into cell]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1903991 [positive regulation of ferrous iron import into cell]
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:1990712 [HFE-transferrin receptor complex]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of receptor activity]
GO:2000273 [positive regulation of receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
 325 aa
37.5 kDa 		Yes 1
HFE-006
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006461 [protein complex assembly]
GO:0006879 [cellular iron ion homeostasis]
GO:0006955 [immune response]
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: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: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:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097459 [iron ion import into cell]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1903991 [positive regulation of ferrous iron import into cell]
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:1990712 [HFE-transferrin receptor complex]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of receptor activity]
GO:2000273 [positive regulation of receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
 256 aa
29.2 kDa 		Yes 1
HFE-007
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006461 [protein complex assembly]
GO:0006879 [cellular iron ion homeostasis]
GO:0006955 [immune response]
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: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: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:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097459 [iron ion import into cell]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1903991 [positive regulation of ferrous iron import into cell]
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:1990712 [HFE-transferrin receptor complex]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of receptor activity]
GO:2000273 [positive regulation of receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
 168 aa
18.7 kDa 		Yes 1
HFE-011
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I]
GO:0005515 [protein binding]
GO:0006955 [immune response]
GO:0016021 [integral component of membrane]
Show all
 345 aa
39.7 kDa 		Yes 1
HFE-012
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006461 [protein complex assembly]
GO:0006879 [cellular iron ion homeostasis]
GO:0006955 [immune response]
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: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: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:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097459 [iron ion import into cell]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1903991 [positive regulation of ferrous iron import into cell]
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:1990712 [HFE-transferrin receptor complex]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of receptor activity]
GO:2000273 [positive regulation of receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
 242 aa
27.7 kDa 		Yes 1
HFE-014
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006461 [protein complex assembly]
GO:0006879 [cellular iron ion homeostasis]
GO:0006955 [immune response]
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: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: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:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097459 [iron ion import into cell]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1903991 [positive regulation of ferrous iron import into cell]
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:1990712 [HFE-transferrin receptor complex]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of receptor activity]
GO:2000273 [positive regulation of receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
Show all
 334 aa
38.6 kDa 		Yes 1
HFE-015
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002725 [negative regulation of T cell cytokine production]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006461 [protein complex assembly]
GO:0006879 [cellular iron ion homeostasis]
GO:0006955 [immune response]
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: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: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:0071281 [cellular response to iron ion]
GO:0090277 [positive regulation of peptide hormone secretion]
GO:0097459 [iron ion import into cell]
GO:1900121 [negative regulation of receptor binding]
GO:1900122 [positive regulation of receptor binding]
GO:1903991 [positive regulation of ferrous iron import into cell]
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:1990712 [HFE-transferrin receptor complex]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2000272 [negative regulation of receptor activity]
GO:2000273 [positive regulation of receptor activity]
GO:2001186 [negative regulation of CD8-positive, alpha-beta T cell activation]
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 246 aa
28.2 kDa 		Yes 1
HFE-019
ENSP00000311698
ENST00000309234
F8W7W8 [Direct mapping]
Hereditary hemochromatosis protein
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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
Protein evidence (Ezkurdia et al 2014)
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GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I]
GO:0005515 [protein binding]
GO:0006955 [immune response]
GO:0016021 [integral component of membrane]
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 337 aa
38.9 kDa 		Yes 1
HFE-024
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016021 [integral component of membrane]
Show all
 55 aa
6 kDa 		No 1

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The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.