HFE: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

HFE

Aliases

HFE1, HH, HLA-H, MVCD7, TFQTL2

Entrez Gene ID

3077

Gene Name

Homeostatic iron regulator

Chromosomal Location

6p22.2

HGNC ID

HGNC:4886

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]

RefSeq DNA

NG_008720.2

RefSeq mRNA

NM_139003.3, NM_139004.3, NM_139006.3, NM_139007.3, NM_139008.3, NM_139009.3, NM_139010.3, NM_139011.3, NM_001300749.2, NM_000410.3

e!Ensembl

Gene	ENSG00000010704
Transcript	ENST00000397022, ENST00000353147, ENST00000352392, ENST00000349999, ENST00000317896, ENST00000357618, ENST00000470149, ENST00000336625, ENST00000461397, ENST00000488199, ENST00000309234, ENST00000485729
Protein	ENSP00000380217, ENSP00000312342, ENSP00000315936, ENSP00000259699, ENSP00000313776, ENSP00000417404, ENSP00000419725, ENSP00000337819, ENSP00000420802, ENSP00000420559, ENSP00000311698, ENSP00000417534

Gene Ontology (GO)

Show/Hide all(50 )

GO ID	Ontology	Function	Evidence	Reference
GO:0002474	Biological process	Antigen processing and presentation of peptide antigen via MHC class I	IKR	8696333
GO:0002725	Biological process	Negative regulation of T cell cytokine production	IGI	24643698
GO:0006879	Biological process	Cellular iron ion homeostasis	IDA	10085150
GO:0010039	Biological process	Response to iron ion	IMP	21173098
GO:0010862	Biological process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	24904118
GO:0019882	Biological process	Antigen processing and presentation	IC	9546397
GO:0030509	Biological process	BMP signaling pathway	IDA	24904118
GO:0032092	Biological process	Positive regulation of protein binding	IGI	18353247
GO:0032435	Biological process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IC	24904118
GO:0034756	Biological process	Regulation of iron ion transport	IGI	18353247
GO:0048260	Biological process	Positive regulation of receptor-mediated endocytosis	IGI	18353247
GO:0055072	Biological process	Iron ion homeostasis	IC	18353247
GO:0055072	Biological process	Iron ion homeostasis	IMP	21173098
GO:0065003	Biological process	Protein-containing complex assembly	TAS	10638746
GO:0071281	Biological process	Cellular response to iron ion	IGI	18353247
GO:0090277	Biological process	Positive regulation of peptide hormone secretion	IMP	21173098
GO:1900121	Biological process	Negative regulation of receptor binding	IDA	9465039
GO:1900122	Biological process	Positive regulation of receptor binding	IGI	18353247
GO:1904283	Biological process	Negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	IGI	24643698
GO:1904434	Biological process	Positive regulation of ferrous iron binding	IGI	18353247
GO:1904437	Biological process	Positive regulation of transferrin receptor binding	IGI	18353247
GO:1990641	Biological process	Response to iron ion starvation	IBA	21873635
GO:2000008	Biological process	Regulation of protein localization to cell surface	IMP	12704209
GO:2000059	Biological process	Negative regulation of ubiquitin-dependent protein catabolic process	IDA	24904118
GO:2000272	Biological process	Negative regulation of signaling receptor activity	IDA	9465039
GO:2000273	Biological process	Positive regulation of signaling receptor activity	IGI	18353247
GO:2001186	Biological process	Negative regulation of CD8-positive, alpha-beta T cell activation	IGI	24643698
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0005615	Cellular component	Extracellular space	IDA	21173098
GO:0005769	Cellular component	Early endosome	IDA	15880641
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0005887	Cellular component	Integral component of plasma membrane	TAS	10638746
GO:0009897	Cellular component	External side of plasma membrane	IBA	21873635
GO:0009897	Cellular component	External side of plasma membrane	IDA	24904118
GO:0031410	Cellular component	Cytoplasmic vesicle	IDA	12704209, 15880641
GO:0042612	Cellular component	MHC class I protein complex	IDA	9546397
GO:0042612	Cellular component	MHC class I protein complex	IKR	8696333
GO:0045177	Cellular component	Apical part of cell	IDA	15880641
GO:0045178	Cellular component	Basal part of cell	IDA	15880641
GO:0048471	Cellular component	Perinuclear region of cytoplasm	IDA	9990067, 15880641
GO:0055037	Cellular component	Recycling endosome	IDA	15880641
GO:1990712	Cellular component	HFE-transferrin receptor complex	IDA	9465039, 9546397, 9990067, 12704209, 22728873
GO:0005102	Molecular function	Signaling receptor binding	IPI	10638746, 24904118
GO:0005515	Molecular function	Protein binding	IPI	15880641, 15965644, 20618438
GO:0030881	Molecular function	Beta-2-microglobulin binding	IPI	9465039, 9546397, 9990067
GO:0039706	Molecular function	Co-receptor binding	IPI	22728873
GO:0042605	Molecular function	Peptide antigen binding	IDA	9546397
GO:0042605	Molecular function	Peptide antigen binding	IKR	8696333
GO:1990459	Molecular function	Transferrin receptor binding	IBA	21873635
GO:1990459	Molecular function	Transferrin receptor binding	IPI	9465039, 9546397, 9990067, 18353247, 22728873

Protein Information

Protein Name

Hereditary hemochromatosis protein, MHC class I-like protein HFE, hereditary hemochromatosis protein HLA-H, high Fe

Function

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.

Refseq Proteins

NP_620572.1, NP_620573.1, NP_620575.1, NP_620576.1, NP_620577.1, NP_620578.1, NP_620579.1, NP_620580.1, NP_001287678.1, NP_000401.1

UniProt

Q30201

PDB

1A6Z, 1DE4, 1C42