Difference between revisions of "HFE"
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| − | ''HFE'' is named after '''H'''igh '''Fe''' (iron). The gene products known function is to regulate iron absorption by interacting with transferrin and its receptor. | + | ''HFE'' is named after '''H'''igh '''Fe''' (iron). The gene products known function is to regulate iron absorption by interacting with transferrin and its receptor. When the normal function is disrupted by mutation the result can be HFE hereditary [[hemochromatosis]] or iron overload. |
=DNA Sequence= | =DNA Sequence= | ||
Revision as of 09:31, 18 July 2014
HFE is named after High Fe (iron). The gene products known function is to regulate iron absorption by interacting with transferrin and its receptor. When the normal function is disrupted by mutation the result can be HFE hereditary hemochromatosis or iron overload.
DNA Sequence
HFE is located on chromosome 6 in humans.
RNA Sequence
There are several alternatively spliced variants of HFE.
Protein Sequence
The protein has a signal sequence and transmembrane domain. It forms a tertiary complex with beta2-microglobulin (beta2M). HFE has sequence and structural similarity to MHC class I-type proteins.
NCBI Protein[1]
>gi|4504377|ref|NP_000401.1| hereditary hemochromatosis protein isoform 1 precursor [Homo sapiens] MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEP RTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGY DGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLV KVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRY TCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE
NCBI Structure[2]
UniProt protein accession: Q30201
Plot in Protter[3]
