Version 5.4
Bos taurus Gene: BT.37142
Summary
InnateDB Gene IDBG-635416.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BT.37142
Gene Name hereditary hemochromatosis protein precursor
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000013065
Encoded Proteins
IDBP-687248
hemochromatosis
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000010704:
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 23:31614238-31621350
Strand Forward strand
Band
Transcripts
ENSBTAT00000017371 ENSBTAP00000017371
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Predicted by orthology
Total 7 [view]
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:0006955 immune response
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:0016020 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
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000010704
View Gene Order
ENSMUSG00000006611
View Gene Order
Cross-References
SwissProt
TrEMBL Q5EEZ1
UniProt Splice Variant
Entrez Gene 497622
UniGene Bt.37142
RefSeq NM_001012399
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL AY898807 DAAA02055498
GenPept AAW82001
RNA Seq Atlas 497622

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