Homo sapiens Gene: HFE
Summary
InnateDB Gene IDBG-67372.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HFE
Gene Name hemochromatosis
Synonyms HFE1; HH; HLA-H; MVCD7; TFQTL2;
Species Homo sapiens
Ensembl Gene ENSG00000010704
Encoded Proteins
hemochromatosis
hemochromatosis
hemochromatosis
hemochromatosis
hemochromatosis
hemochromatosis
hemochromatosis
hemochromatosis
hemochromatosis
hemochromatosis
hemochromatosis
hemochromatosis
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:26087281-26098343
Strand Forward strand
Band p22.2
Transcripts
ENST00000309234 ENSP00000311698
ENST00000349999 ENSP00000259699
ENST00000317896 ENSP00000313776
ENST00000353147 ENSP00000312342
ENST00000352392 ENSP00000315936
ENST00000336625 ENSP00000337819
ENST00000357618 ENSP00000417404
ENST00000397022 ENSP00000380217
ENST00000483782
ENST00000470149 ENSP00000419725
ENST00000486147
ENST00000461397 ENSP00000420802
ENST00000488199 ENSP00000420559
ENST00000485729 ENSP00000417534
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0042605 peptide antigen binding
Biological Process
GO:0001916 positive regulation of T cell mediated cytotoxicity
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0006461 protein complex assembly
GO:0006879 cellular iron ion homeostasis
GO:0006955 immune response
GO:0007565 female pregnancy
GO:0010106 cellular response to iron ion starvation
GO:0019882 antigen processing and presentation
GO:0042446 hormone biosynthetic process
GO:0055072 iron ion homeostasis
GO:0060586 multicellular organismal iron ion homeostasis
GO:0097459 iron ion import into cell
Cellular Component
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
GO:0031410 cytoplasmic vesicle
GO:0042612 MHC class I protein complex
GO:0045177 apical part of cell
GO:0045178 basal part of cell
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.233325 Hs.738117
RefSeq NM_000410 NM_001300749 NM_139003 NM_139004 NM_139006 NM_139007 NM_139008 NM_139009 NM_139010 NM_139011 XM_006715075
HUGO
OMIM
CCDS CCDS4578 CCDS4579 CCDS4580 CCDS4581 CCDS4582 CCDS47386 CCDS47387 CCDS54974 CCDS54975 CCDS75412
HPRD 01993
IMGT
EMBL
GenPept
RNA Seq Atlas