HFE
entrez
3077
canonical
uniprot
Q30201
canonical
ensembl
ENSG00000010704
resolver
ensp
ENSP00000259699
resolver
ensp
ENSP00000311698
resolver
ensp
ENSP00000312342
resolver
ensp
ENSP00000313776
resolver
ensp
ENSP00000315936
resolver
ensp
ENSP00000337819
resolver
ensp
ENSP00000380217
resolver
ensp
ENSP00000417404
resolver
ensp
ENSP00000417534
resolver
ensp
ENSP00000419725
resolver
ensp
ENSP00000420559
resolver
ensp
ENSP00000420802
resolver
enst
ENST00000309234
resolver
enst
ENST00000470149
resolver
enst
ENST00000485729
resolver
genesymbol
HFE
resolver
genesymbol_syn
HLAH
resolver
hgnc
HGNC:4886
resolver
uniprot
B2CKL0
resolver
uniprot
B4DV50
resolver
uniprot
F6WCE3
resolver
uniprot
F8W7W8
resolver
uniprot
H7C4K4
resolver
uniprot
O75929
resolver
uniprot
O75930
resolver
uniprot
O75931
resolver
uniprot
Q17RT0
resolver
uniprot
Q6B0J5
resolver
uniprot
Q96KU5
resolver
uniprot
Q96KU6
resolver
uniprot
Q96KU7
resolver
uniprot
Q96KU8
resolver
uniprot
Q9HC64
resolver
uniprot
Q9HC68
resolver
uniprot
Q9HC70
resolver
uniprot
Q9HC83
resolver
uniprot_entry
B4DV50_HUMAN
resolver
uniprot_entry
F6WCE3_HUMAN
resolver
uniprot_entry
F8W7W8_HUMAN
resolver
uniprot_entry
H7C4K4_HUMAN
resolver
uniprot_entry
HFE_HUMAN
resolver
uniprot_entry
Q6B0J5_HUMAN
resolver
uniprot_sec
B2CKL0
resolver
uniprot_sec
O75929
resolver
uniprot_sec
O75930
resolver
uniprot_sec
O75931
resolver
uniprot_sec
Q17RT0
resolver
uniprot_sec
Q96KU5
resolver
uniprot_sec
Q96KU6
resolver
uniprot_sec
Q96KU7
resolver
uniprot_sec
Q96KU8
resolver
uniprot_sec
Q9HC64
resolver
uniprot_sec
Q9HC68
resolver
uniprot_sec
Q9HC70
resolver
uniprot_sec
Q9HC83
resolver
amino_acid_sequence
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE
uniprot
proteins
disease_involvement
DISEASE: Hemochromatosis 1 (HFE1) [MIM:235200]: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO:0000269|PubMed:10094552, ECO:0000269|PubMed:10194428, ECO:0000269|PubMed:10401000, ECO:0000269|PubMed:10575540, ECO:0000269|PubMed:11423500, ECO:0000269|PubMed:11446670, ECO:0000269|PubMed:12542741, ECO:0000269|PubMed:12584229, ECO:0000269|PubMed:12737937, ECO:0000269|PubMed:14633868, ECO:0000269|PubMed:15046077, ECO:0000269|PubMed:15965644, ECO:0000269|PubMed:18157833, ECO:0000269|PubMed:8696333, ECO:0000269|PubMed:9024376, ECO:0000269|PubMed:9106528, ECO:0000269|PubMed:9620340, ECO:0000269|Ref.25}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. {ECO:0000269|PubMed:9465039}.
uniprot
proteins
mass_dalton
40108
uniprot
proteins
protein_family
MHC class I family
uniprot
proteins
pubmed
10079302
uniprot
proteins
pubmed
10094552
uniprot
proteins
pubmed
10194428
uniprot
proteins
pubmed
10401000
uniprot
proteins
pubmed
10575540
uniprot
proteins
pubmed
10612845
uniprot
proteins
pubmed
10638746
uniprot
proteins
pubmed
11001625
uniprot
proteins
pubmed
11018711
uniprot
proteins
pubmed
11069625
uniprot
proteins
pubmed
11358357
uniprot
proteins
pubmed
11423500
uniprot
proteins
pubmed
11446670
uniprot
proteins
pubmed
12542741
uniprot
proteins
pubmed
12584229
uniprot
proteins
pubmed
12737937
uniprot
proteins
pubmed
14633868
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15046077
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15965644
uniprot
proteins
pubmed
18157833
uniprot
proteins
pubmed
19084217
uniprot
proteins
pubmed
8696333
uniprot
proteins
pubmed
9024376
uniprot
proteins
pubmed
9106528
uniprot
proteins
pubmed
9149941
uniprot
proteins
pubmed
9425935
uniprot
proteins
pubmed
9465039
uniprot
proteins
pubmed
9546397
uniprot
proteins
pubmed
9548560
uniprot
proteins
pubmed
9620340
uniprot
proteins
sequence_length
348
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9465039}; Single-pass type I membrane protein {ECO:0000305|PubMed:8696333}.
uniprot
proteins
transmembrane_region
TRANSMEM 307..330; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins