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Hereditary hemochromatosis protein; HLA-H (HFE HLAH)
Function:
- binds to transferrin receptor (TFR) & reduces its affinity for iron-loaded transferrin
- binds TFR through the extracellular domain (pH-dependent)
Structure:
- belongs to the MHC class I family
- contains 1 Ig-like C1-type (immunoglobulin-like) domain
Compartment:
- membrane; single-pass type 1 membrane protein
Alternative splicing:
- named isoforms=10
- at least some isoforms may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay
Expression:
- expressed within crypt enterocytes of duodenum
- expressed in all tissues except brain
Pathology:
- defective protein in
a) hereditary hemochromatosis
b) porphyria cutanea tarda
c) variegate porphyria
d) susceptibility to diabetic nephropathy
Laboratory:
- HFE gene mutation
Interactions
molecular events
General
glycoprotein
membrane protein
Properties
SIZE: entity length = 348 aa
MW = 40 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-22}
Alpha-1 {23-114}
MOTIF: N-glycosylation site {N110}
Alpha-2 {115-205}
MOTIF: cysteine residue {C124}
MODIFICATION: cysteine residue {C187}
N-glycosylation site {N130}
cysteine residue {C187}
MODIFICATION: cysteine residue {C124}
Alpha-3 {206-297}
immunoglobulin superfamily domain {207-298}
MOTIF: cysteine residue {C225}
MODIFICATION: cysteine residue {C282}
N-glycosylation site {N234}
cysteine residue {C282}
MODIFICATION: cysteine residue {C225}
Connecting peptide {298-306}
transmembrane domain {307-330}
Database Correlations
OMIM correlations
UniProt Q30201
PFAM correlations
Entrez Gene 3077
Kegg hsa:3077
References
- UniProt :accession Q30201
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/HFEID44099ch6p22.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/HFE
- NIEHS-SNPs
http://egp.gs.washington.edu/data/hfe/
Component-of
molecular complex