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Protein

Hereditary hemochromatosis protein

Gene

HFE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processIon transport, Iron transport, Transport
LigandIron

Enzyme and pathway databases

ReactomeiR-HSA-917977 Transferrin endocytosis and recycling

Names & Taxonomyi

Protein namesi
Recommended name:
Hereditary hemochromatosis protein
Alternative name(s):
HLA-H
Gene namesi
Name:HFE
Synonyms:HLAH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000010704.18
HGNCiHGNC:4886 HFE
MIMi613609 gene
neXtProtiNX_Q30201

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 306Extracellular1 PublicationAdd BLAST284
Transmembranei307 – 330HelicalSequence analysisAdd BLAST24
Topological domaini331 – 348Cytoplasmic1 PublicationAdd BLAST18

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hemochromatosis 1 (HFE1)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:235200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0425066R → S in HFE1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149342416EnsemblClinVar.1
Natural variantiVAR_04250743G → D in HFE1; associated with D-63 in one patient. 1 Publication1
Natural variantiVAR_00439765S → C in HFE1; mild form. 5 PublicationsCorresponds to variant dbSNP:rs1800730EnsemblClinVar.1
Natural variantiVAR_04250866R → C in HFE1. 1 PublicationCorresponds to variant dbSNP:rs747739169Ensembl.1
Natural variantiVAR_00872993G → R in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934597EnsemblClinVar.1
Natural variantiVAR_008730105I → T in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934596EnsemblClinVar.1
Natural variantiVAR_008113127Q → H in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934595EnsemblClinVar.1
Natural variantiVAR_042509176A → V in HFE1; uncertain pathological significance. 1 Publication1
Natural variantiVAR_042510224R → G in HFE1. 1 Publication1
Natural variantiVAR_004398282C → Y in HFE1; associated with susceptibility to porphyria cutanea tarda; associated with increased serum transferrin levels; higher frequency in patients with type 2 diabetes than in controls. 12 PublicationsCorresponds to variant dbSNP:rs1800562EnsemblClinVar.1
Natural variantiVAR_037304283Q → P in HFE1; destabilizing effect on the tertiary structure of the protein; prevents the normal interaction between HFE and B2M and between HFE and TFRC; decreases the capacity of HFE to reduce transferrin-mediated iron uptake. 2 PublicationsCorresponds to variant dbSNP:rs111033563EnsemblClinVar.1
Natural variantiVAR_042511295V → A in HFE1. 2 PublicationsCorresponds to variant dbSNP:rs143175221EnsemblClinVar.1
Natural variantiVAR_008114330R → M in HFE1. 1 PublicationCorresponds to variant dbSNP:rs111033558EnsemblClinVar.1
Variegate porphyria (VP)
Disease susceptibility is associated with variations affecting the gene represented in this entry. Iron overload due to HFE variants is a precipitating or exacerbating factor in variegate porphyria.
Disease descriptionA form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease.
See also OMIM:176200
Microvascular complications of diabetes 7 (MVCD7)
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionPathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis.
See also OMIM:612635

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3077
GeneReviewsiHFE
MalaCardsiHFE
MIMi176200 phenotype
235200 phenotype
612635 phenotype
614193 phenotype
OpenTargetsiENSG00000010704
Orphaneti443062 Familial porphyria cutanea tarda
139498 NON RARE IN EUROPE: Hemochromatosis type 1
443057 Sporadic porphyria cutanea tarda
465508 Symptomatic form of hemochromatosis type 1
PharmGKBiPA29263

Polymorphism and mutation databases

BioMutaiHFE
DMDMi2497915

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Add BLAST22
ChainiPRO_000001889223 – 348Hereditary hemochromatosis proteinAdd BLAST326

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi124 ↔ 187
Glycosylationi130N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi225 ↔ 282
Glycosylationi234N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ30201
PaxDbiQ30201
PeptideAtlasiQ30201
PRIDEiQ30201
ProteomicsDBi61558
61559 [Q30201-10]
61560 [Q30201-11]
61561 [Q30201-2]
61562 [Q30201-3]
61563 [Q30201-4]
61564 [Q30201-5]
61565 [Q30201-6]
61566 [Q30201-7]
61567 [Q30201-8]
61568 [Q30201-9]
TopDownProteomicsiQ30201-1 [Q30201-1]

PTM databases

iPTMnetiQ30201
PhosphoSitePlusiQ30201

Expressioni

Tissue specificityi

Expressed in all tissues tested except brain.

Gene expression databases

BgeeiENSG00000010704 Expressed in 196 organ(s), highest expression level in mononuclear cell
ExpressionAtlasiQ30201 baseline and differential
GenevisibleiQ30201 HS

Organism-specific databases

HPAiHPA017276
HPA053470

Interactioni

Subunit structurei

Binds TFR through the extracellular domain in a pH-dependent manner.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109325, 95 interactors
DIPiDIP-2737N
IntActiQ30201, 8 interactors
MINTiQ30201
STRINGi9606.ENSP00000417404

Structurei

Secondary structure

1348
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ30201
SMRiQ30201
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ30201

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini207 – 298Ig-like C1-typeAdd BLAST92

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni23 – 114Alpha-1Add BLAST92
Regioni115 – 205Alpha-2Add BLAST91
Regioni206 – 297Alpha-3Add BLAST92
Regioni298 – 306Connecting peptide9

Sequence similaritiesi

Belongs to the MHC class I family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFNV Eukaryota
ENOG4111CQR LUCA
GeneTreeiENSGT00740000114936
HOGENOMiHOG000151270
HOVERGENiHBG016709
InParanoidiQ30201
OMAiQLFVSYD
OrthoDBiEOG091G0K1X
PhylomeDBiQ30201
TreeFamiTF336617

Family and domain databases

Gene3Di2.60.40.10, 1 hit
3.30.500.10, 1 hit
InterProiView protein in InterPro
IPR031092 HFE
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR003597 Ig_C1-set
IPR011161 MHC_I-like_Ag-recog
IPR037055 MHC_I-like_Ag-recog_sf
IPR011162 MHC_I/II-like_Ag-recog
IPR001039 MHC_I_a_a1/a2
PANTHERiPTHR16675:SF172 PTHR16675:SF172, 1 hit
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PF00129 MHC_I, 1 hit
PRINTSiPR01638 MHCCLASSI
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
SSF54452 SSF54452, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 1 hit

Sequences (11+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 11 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 11 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q30201-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL
60 70 80 90 100
GYVDDQLFVF YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV
110 120 130 140 150
DFWTIMENHN HSKESHTLQV ILGCEMQEDN STEGYWKYGY DGQDHLEFCP
160 170 180 190 200
DTLDWRAAEP RAWPTKLEWE RHKIRARQNR AYLERDCPAQ LQQLLELGRG
210 220 230 240 250
VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL KDKQPMDAKE
260 270 280 290 300
FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
310 320 330 340
PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERE
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Length:348
Mass (Da):40,108
Last modified:November 1, 1997 - v1
Checksum:i432EB9A314A55BEA
GO
Isoform 2 (identifier: Q30201-2) [UniParc]FASTAAdd to basket
Also known as: delE2

The sequence of this isoform differs from the canonical sequence as follows:
     26-114: RSHSLHYLFM...IMENHNHSKE → Q

Show »
Length:260
Mass (Da):29,633
Checksum:iC30AC94F06A81AAA
GO
Isoform 3 (identifier: Q30201-3) [UniParc]FASTAAdd to basket
Also known as: del14E4

The sequence of this isoform differs from the canonical sequence as follows:
     207-220: Missing.

Show »
Length:334
Mass (Da):38,625
Checksum:i811D9D68BB9D7F3A
GO
Isoform 4 (identifier: Q30201-4) [UniParc]FASTAAdd to basket
Also known as: delE214E4

The sequence of this isoform differs from the canonical sequence as follows:
     26-114: RSHSLHYLFM...IMENHNHSKE → Q
     207-220: Missing.

Show »
Length:246
Mass (Da):28,151
Checksum:i47B79FE7B8B49A0A
GO
Isoform 5 (identifier: Q30201-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-49: RSHSLHYLFMGASEQDLGLSLFEA → P

Show »
Length:325
Mass (Da):37,514
Checksum:i626343ACFAA862EF
GO
Isoform 6 (identifier: Q30201-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-26: R → L
     27-206: Missing.

Show »
Length:168
Mass (Da):18,734
Checksum:i525C7094CEE850F9
GO
Isoform 7 (identifier: Q30201-7) [UniParc]FASTAAdd to basket
Also known as: delE3

The sequence of this isoform differs from the canonical sequence as follows:
     114-205: Missing.

Show »
Length:256
Mass (Da):29,194
Checksum:i0E810B1BBACDF0BF
GO
Isoform 8 (identifier: Q30201-8) [UniParc]FASTAAdd to basket
Also known as: 1043-2283del,intron6ins

The sequence of this isoform differs from the canonical sequence as follows:
     275-276: GE → KY
     277-348: Missing.

Show »
Length:276
Mass (Da):32,243
Checksum:i3E0D2762D7476B82
GO
Isoform 9 (identifier: Q30201-9) [UniParc]FASTAAdd to basket
Also known as: delE3-7

The sequence of this isoform differs from the canonical sequence as follows:
     144-161: DHLEFCPDTLDWRAAEPR → VLQDTIYSSEVSSLGIKF
     162-348: Missing.

Show »
Length:161
Mass (Da):18,651
Checksum:i5E288C5835DC3784
GO
Isoform 10 (identifier: Q30201-10) [UniParc]FASTAAdd to basket
Also known as: 562-878del

The sequence of this isoform differs from the canonical sequence as follows:
     114-219: Missing.

Show »
Length:242
Mass (Da):27,711
Checksum:iE423FF903128DB74
GO
Isoform 11 (identifier: Q30201-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-26: R → Q
     27-298: Missing.

Note: No experimental confirmation available.
Show »
Length:76
Mass (Da):8,208
Checksum:iB56810C036B9BEE9
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W7W8F8W7W8_HUMAN
Hereditary hemochromatosis protein
HFE
337Annotation score:
Q6B0J5Q6B0J5_HUMAN
HFE protein
HFE
345Annotation score:
H7C4K4H7C4K4_HUMAN
Hereditary hemochromatosis protein
HFE
55Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti230Y → H in AAG29342 (PubMed:11358357).Curated1
Sequence conflicti248A → T in AAG29575 (PubMed:11358357).Curated1
Sequence conflicti256V → A in AAG29577 (PubMed:11358357).Curated1
Sequence conflicti275G → E in AAG29342 (PubMed:11358357).Curated1
Sequence conflicti311S → R in AAG29342 (PubMed:11358357).Curated1
Sequence conflicti339M → V in AAG29577 (PubMed:11358357).Curated1

Polymorphismi

Genetic variations in HFE define the transferrin serum level quantitative trait locus 2 (TFQTL2) [MIMi:614193]. Iron is essential for biochemical functions such as oxygen transport and oxidative phosphorylation. Excessive iron can cause iron-overload-related liver diseases, whereas iron deficiency can lead to anemia. Iron status can be assessed by measuring the levels of serum iron, serum transferrin, transferrin saturation with iron, and serum ferritin.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0425066R → S in HFE1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149342416EnsemblClinVar.1
Natural variantiVAR_04250743G → D in HFE1; associated with D-63 in one patient. 1 Publication1
Natural variantiVAR_00811153V → M2 PublicationsCorresponds to variant dbSNP:rs28934889EnsemblClinVar.1
Natural variantiVAR_00811259V → M1 PublicationCorresponds to variant dbSNP:rs111033557EnsemblClinVar.1
Natural variantiVAR_00439663H → D Polymorphism associated with hemochromatosis and variegate porphyria; increased frequency among patients with diabetic nephropathy. 11 PublicationsCorresponds to variant dbSNP:rs1799945EnsemblClinVar.1
Natural variantiVAR_00439765S → C in HFE1; mild form. 5 PublicationsCorresponds to variant dbSNP:rs1800730EnsemblClinVar.1
Natural variantiVAR_04250866R → C in HFE1. 1 PublicationCorresponds to variant dbSNP:rs747739169Ensembl.1
Natural variantiVAR_00872993G → R in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934597EnsemblClinVar.1
Natural variantiVAR_008730105I → T in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934596EnsemblClinVar.1
Natural variantiVAR_008113127Q → H in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934595EnsemblClinVar.1
Natural variantiVAR_042509176A → V in HFE1; uncertain pathological significance. 1 Publication1
Natural variantiVAR_020270217T → I. Corresponds to variant dbSNP:rs4986950Ensembl.1
Natural variantiVAR_042510224R → G in HFE1. 1 Publication1
Natural variantiVAR_062279224R → Q1 PublicationCorresponds to variant dbSNP:rs62625346Ensembl.1
Natural variantiVAR_008731277E → K Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs140080192EnsemblClinVar.1
Natural variantiVAR_004398282C → Y in HFE1; associated with susceptibility to porphyria cutanea tarda; associated with increased serum transferrin levels; higher frequency in patients with type 2 diabetes than in controls. 12 PublicationsCorresponds to variant dbSNP:rs1800562EnsemblClinVar.1
Natural variantiVAR_037304283Q → P in HFE1; destabilizing effect on the tertiary structure of the protein; prevents the normal interaction between HFE and B2M and between HFE and TFRC; decreases the capacity of HFE to reduce transferrin-mediated iron uptake. 2 PublicationsCorresponds to variant dbSNP:rs111033563EnsemblClinVar.1
Natural variantiVAR_042511295V → A in HFE1. 2 PublicationsCorresponds to variant dbSNP:rs143175221EnsemblClinVar.1
Natural variantiVAR_008114330R → M in HFE1. 1 PublicationCorresponds to variant dbSNP:rs111033558EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00321826 – 114RSHSL…NHSKE → Q in isoform 2 and isoform 4. 2 PublicationsAdd BLAST89
Alternative sequenceiVSP_00321926 – 49RSHSL…SLFEA → P in isoform 5. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_04347726R → Q in isoform 11. 1 Publication1
Alternative sequenceiVSP_04733626R → L in isoform 6. 1 Publication1
Alternative sequenceiVSP_04347827 – 298Missing in isoform 11. 1 PublicationAdd BLAST272
Alternative sequenceiVSP_00322027 – 206Missing in isoform 6. 1 PublicationAdd BLAST180
Alternative sequenceiVSP_003222114 – 219Missing in isoform 10. 1 PublicationAdd BLAST106
Alternative sequenceiVSP_003221114 – 205Missing in isoform 7. 2 PublicationsAdd BLAST92
Alternative sequenceiVSP_003223144 – 161DHLEF…AAEPR → VLQDTIYSSEVSSLGIKF in isoform 9. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_003224162 – 348Missing in isoform 9. 1 PublicationAdd BLAST187
Alternative sequenceiVSP_003225207 – 220Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_003226275 – 276GE → KY in isoform 8. 1 Publication2
Alternative sequenceiVSP_003227277 – 348Missing in isoform 8. 1 PublicationAdd BLAST72

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60319 mRNA Translation: AAC51823.1
U91328 Genomic DNA Translation: AAB82083.1
Z92910 Genomic DNA Translation: CAB07442.1
Y09801
, Y09800, Y09803, Y09799 Genomic DNA Translation: CAA70934.1
AF079407 mRNA Translation: AAC62646.1
AF079408 mRNA Translation: AAC62647.1
AF079409 mRNA Translation: AAC62648.1
AF115264 mRNA Translation: AAG29571.1
AF115265 mRNA Translation: AAG29572.1
AF144240 mRNA Translation: AAG29575.1
AF144242 mRNA Translation: AAG29577.1
AF149804 mRNA Translation: AAG29342.1
AJ249335 mRNA Translation: CAC67792.1
AJ249336 mRNA Translation: CAC67793.1
AJ249337 mRNA Translation: CAC67794.1
AJ249338 mRNA Translation: CAC67795.1
AJ250635 mRNA Translation: CAC80805.1
EU523119 Genomic DNA Translation: ACB21042.1
CH471087 Genomic DNA Translation: EAW55524.1
CH471087 Genomic DNA Translation: EAW55526.1
BC117201 mRNA Translation: AAI17202.1
BC117203 mRNA Translation: AAI17204.1
CCDSiCCDS4578.1 [Q30201-1]
CCDS4579.1 [Q30201-7]
CCDS4580.1 [Q30201-2]
CCDS4581.1 [Q30201-6]
CCDS4582.1 [Q30201-11]
CCDS47386.1 [Q30201-10]
CCDS47387.1 [Q30201-5]
CCDS54974.1 [Q30201-3]
CCDS54975.1 [Q30201-4]
RefSeqiNP_000401.1, NM_000410.3 [Q30201-1]
NP_001287678.1, NM_001300749.1
NP_620572.1, NM_139003.2 [Q30201-10]
NP_620573.1, NM_139004.2 [Q30201-7]
NP_620575.1, NM_139006.2 [Q30201-3]
NP_620576.1, NM_139007.2 [Q30201-2]
NP_620577.1, NM_139008.2 [Q30201-4]
NP_620578.1, NM_139009.2 [Q30201-5]
NP_620579.1, NM_139010.2 [Q30201-6]
NP_620580.1, NM_139011.2 [Q30201-11]
UniGeneiHs.233325

Genome annotation databases

EnsembliENST00000317896; ENSP00000313776; ENSG00000010704 [Q30201-7]
ENST00000336625; ENSP00000337819; ENSG00000010704 [Q30201-10]
ENST00000349999; ENSP00000259699; ENSG00000010704 [Q30201-2]
ENST00000352392; ENSP00000315936; ENSG00000010704 [Q30201-11]
ENST00000353147; ENSP00000312342; ENSG00000010704 [Q30201-6]
ENST00000357618; ENSP00000417404; ENSG00000010704 [Q30201-1]
ENST00000397022; ENSP00000380217; ENSG00000010704 [Q30201-5]
ENST00000461397; ENSP00000420802; ENSG00000010704 [Q30201-3]
ENST00000488199; ENSP00000420559; ENSG00000010704 [Q30201-4]
GeneIDi3077
KEGGihsa:3077
UCSCiuc003nfx.2 human [Q30201-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60319 mRNA Translation: AAC51823.1
U91328 Genomic DNA Translation: AAB82083.1
Z92910 Genomic DNA Translation: CAB07442.1
Y09801
, Y09800, Y09803, Y09799 Genomic DNA Translation: CAA70934.1
AF079407 mRNA Translation: AAC62646.1
AF079408 mRNA Translation: AAC62647.1
AF079409 mRNA Translation: AAC62648.1
AF115264 mRNA Translation: AAG29571.1
AF115265 mRNA Translation: AAG29572.1
AF144240 mRNA Translation: AAG29575.1
AF144242 mRNA Translation: AAG29577.1
AF149804 mRNA Translation: AAG29342.1
AJ249335 mRNA Translation: CAC67792.1
AJ249336 mRNA Translation: CAC67793.1
AJ249337 mRNA Translation: CAC67794.1
AJ249338 mRNA Translation: CAC67795.1
AJ250635 mRNA Translation: CAC80805.1
EU523119 Genomic DNA Translation: ACB21042.1
CH471087 Genomic DNA Translation: EAW55524.1
CH471087 Genomic DNA Translation: EAW55526.1
BC117201 mRNA Translation: AAI17202.1
BC117203 mRNA Translation: AAI17204.1
CCDSiCCDS4578.1 [Q30201-1]
CCDS4579.1 [Q30201-7]
CCDS4580.1 [Q30201-2]
CCDS4581.1 [Q30201-6]
CCDS4582.1 [Q30201-11]
CCDS47386.1 [Q30201-10]
CCDS47387.1 [Q30201-5]
CCDS54974.1 [Q30201-3]
CCDS54975.1 [Q30201-4]
RefSeqiNP_000401.1, NM_000410.3 [Q30201-1]
NP_001287678.1, NM_001300749.1
NP_620572.1, NM_139003.2 [Q30201-10]
NP_620573.1, NM_139004.2 [Q30201-7]
NP_620575.1, NM_139006.2 [Q30201-3]
NP_620576.1, NM_139007.2 [Q30201-2]
NP_620577.1, NM_139008.2 [Q30201-4]
NP_620578.1, NM_139009.2 [Q30201-5]
NP_620579.1, NM_139010.2 [Q30201-6]
NP_620580.1, NM_139011.2 [Q30201-11]
UniGeneiHs.233325

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A6ZX-ray2.60A/C23-297[»]
1C42model-A26-293[»]
1DE4X-ray2.80A/D/G23-297[»]
ProteinModelPortaliQ30201
SMRiQ30201
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109325, 95 interactors
DIPiDIP-2737N
IntActiQ30201, 8 interactors
MINTiQ30201
STRINGi9606.ENSP00000417404

PTM databases

iPTMnetiQ30201
PhosphoSitePlusiQ30201

Polymorphism and mutation databases

BioMutaiHFE
DMDMi2497915

Proteomic databases

MaxQBiQ30201
PaxDbiQ30201
PeptideAtlasiQ30201
PRIDEiQ30201
ProteomicsDBi61558
61559 [Q30201-10]
61560 [Q30201-11]
61561 [Q30201-2]
61562 [Q30201-3]
61563 [Q30201-4]
61564 [Q30201-5]
61565 [Q30201-6]
61566 [Q30201-7]
61567 [Q30201-8]
61568 [Q30201-9]
TopDownProteomicsiQ30201-1 [Q30201-1]

Protocols and materials databases

DNASUi3077
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317896; ENSP00000313776; ENSG00000010704 [Q30201-7]
ENST00000336625; ENSP00000337819; ENSG00000010704 [Q30201-10]
ENST00000349999; ENSP00000259699; ENSG00000010704 [Q30201-2]
ENST00000352392; ENSP00000315936; ENSG00000010704 [Q30201-11]
ENST00000353147; ENSP00000312342; ENSG00000010704 [Q30201-6]
ENST00000357618; ENSP00000417404; ENSG00000010704 [Q30201-1]
ENST00000397022; ENSP00000380217; ENSG00000010704 [Q30201-5]
ENST00000461397; ENSP00000420802; ENSG00000010704 [Q30201-3]
ENST00000488199; ENSP00000420559; ENSG00000010704 [Q30201-4]
GeneIDi3077
KEGGihsa:3077
UCSCiuc003nfx.2 human [Q30201-1]

Organism-specific databases

CTDi3077
DisGeNETi3077
EuPathDBiHostDB:ENSG00000010704.18
GeneCardsiHFE
GeneReviewsiHFE
H-InvDBiHIX0025100
HGNCiHGNC:4886 HFE
HPAiHPA017276
HPA053470
MalaCardsiHFE
MIMi176200 phenotype
235200 phenotype
612635 phenotype
613609 gene
614193 phenotype
neXtProtiNX_Q30201
OpenTargetsiENSG00000010704
Orphaneti443062 Familial porphyria cutanea tarda
139498 NON RARE IN EUROPE: Hemochromatosis type 1
443057 Sporadic porphyria cutanea tarda
465508 Symptomatic form of hemochromatosis type 1
PharmGKBiPA29263
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFNV Eukaryota
ENOG4111CQR LUCA
GeneTreeiENSGT00740000114936
HOGENOMiHOG000151270
HOVERGENiHBG016709
InParanoidiQ30201
OMAiQLFVSYD
OrthoDBiEOG091G0K1X
PhylomeDBiQ30201
TreeFamiTF336617

Enzyme and pathway databases

ReactomeiR-HSA-917977 Transferrin endocytosis and recycling

Miscellaneous databases

EvolutionaryTraceiQ30201
GeneWikiiHFE_(gene)
GenomeRNAii3077
PROiPR:Q30201
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000010704 Expressed in 196 organ(s), highest expression level in mononuclear cell
ExpressionAtlasiQ30201 baseline and differential
GenevisibleiQ30201 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
3.30.500.10, 1 hit
InterProiView protein in InterPro
IPR031092 HFE
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR003597 Ig_C1-set
IPR011161 MHC_I-like_Ag-recog
IPR037055 MHC_I-like_Ag-recog_sf
IPR011162 MHC_I/II-like_Ag-recog
IPR001039 MHC_I_a_a1/a2
PANTHERiPTHR16675:SF172 PTHR16675:SF172, 1 hit
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PF00129 MHC_I, 1 hit
PRINTSiPR01638 MHCCLASSI
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
SSF54452 SSF54452, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHFE_HUMAN
AccessioniPrimary (citable) accession number: Q30201
Secondary accession number(s): B2CKL0
, O75929, O75930, O75931, Q17RT0, Q96KU5, Q96KU6, Q96KU7, Q96KU8, Q9HC64, Q9HC68, Q9HC70, Q9HC83
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 7, 2018
This is version 200 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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