HFE

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]

HFE tertiary complex with beta2M

Plot in Protter[3] with UniProt accession: Q30201