Version 5.4
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
IDBP-67374
hemochromatosis
IDBP-67376
hemochromatosis
IDBP-67378
hemochromatosis
IDBP-67380
hemochromatosis
IDBP-67382
hemochromatosis
IDBP-67384
hemochromatosis
IDBP-476172
hemochromatosis
IDBP-236289
hemochromatosis
IDBP-479926
hemochromatosis
IDBP-481329
hemochromatosis
IDBP-481393
hemochromatosis
IDBP-474555
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
ENSMUSG00000006611
View Gene Order
ENSBTAG00000013065
Not yet available
Cross-References
SwissProt Q30201
TrEMBL G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA60 I1VA63 I1VA66 I1VA72 Q86WL1 Q8MH46 Q9BXI5 Q9UK37
UniProt Splice Variant
Entrez Gene 3077
UniGene Hs.233325 Hs.738117
RefSeq NM_139009 NM_000410 NM_001300749 NM_139003 NM_139004 NM_139006 NM_139007 NM_139008 NM_139010 NM_139011 XM_006715075
HUGO HGNC:4886
OMIM 613609
CCDS CCDS47387 CCDS4578 CCDS4579 CCDS4580 CCDS4581 CCDS4582 CCDS47386 CCDS54974 CCDS54975 CCDS75412
HPRD 01993
IMGT
EMBL AF079407 AF079408 AF079409 AF115264 AF115265 AF144240 AF144242 AF149804 AF184234 AF331065 AF525359 AF525499 AJ249335 AJ249336 AJ249337 AJ249338 AJ250635 AY205604 BC117201 BC117203 CH471087 EU523119 JN375756 JN375757 JN375758 JN375759 JN858967 JN858968 JN858969 JN858970 JN858971 JN858972 JN858974 JN858975 JN987865 JN987866 JN987867 JN987868 JN987869 JN987870 JQ886465 JQ886466 JQ886467 JQ886468 JQ886471 JQ886472 JQ886475 JQ886476 JQ886477 JQ886478 JQ886479 JQ886480 JQ886482 JQ886488 U60319 U91328 Y09799 Y09800 Y09801 Y09803 Z92910
GenPept AAB82083 AAC51823 AAC62646 AAC62647 AAC62648 AAF01222 AAG29342 AAG29571 AAG29572 AAG29575 AAG29577 AAI17202 AAI17204 AAK16502 AAM82608 AAM91950 AAO47091 ACB21042 AEO50369 AEO50370 AEO50371 AEO50372 AEX30801 AEX30802 AEX30803 AEX30804 AEX30805 AEX30806 AEX30808 AEX30809 AEX91880 AEX91881 AEX91882 AEX91883 AEX91884 AEX91885 AFI39663 AFI39664 AFI39665 AFI39666 AFI39669 AFI39670 AFI39673 AFI39674 AFI39675 AFI39676 AFI39677 AFI39678 AFI39680 AFI39686 CAA70934 CAB07442 CAC67792 CAC67793 CAC67794 CAC67795 CAC80805 EAW55524 EAW55526
RNA Seq Atlas 3077

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca