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 | + | HFE is named after '''H'''igh '''Fe''' (iron). The gene products known function is to regulate iron absorption by interacting with the transferrin receptor (TfR). When the normal function is disrupted by mutation the result can be HFE hereditary [[hemochromatosis]] or iron overload. |
=DNA Sequence= | =DNA Sequence= | ||
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=Protein Sequence= | =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. | + | The protein has a signal sequence and transmembrane domain. It forms a tertiary complex with beta2-microglobulin (beta2M) and TfR. HFE has sequence and structural similarity to MHC class I-type proteins. |
NCBI Protein[http://www.ncbi.nlm.nih.gov/protein/NP_000401] | NCBI Protein[http://www.ncbi.nlm.nih.gov/protein/NP_000401] | ||
Revision as of 10:06, 18 July 2014
HFE is named after High Fe (iron). The gene products known function is to regulate iron absorption by interacting with the transferrin receptor (TfR). 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) and TfR. 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]
HFE (magenta) tertiary complex with beta2M (blue)
HFE (magenta and green) tertiary complex with beta2M (blue and gray) and TfR (yellow and brown)
Plot in Protter[3] with UniProt accession: Q30201
