Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q30201

- HFE_HUMAN

UniProt

Q30201 - HFE_HUMAN

Protein

Hereditary hemochromatosis protein

Gene

HFE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 162 (01 Oct 2014)
      Sequence version 1 (01 Nov 1997)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

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

    GO - Molecular functioni

    1. peptide antigen binding Source: InterPro
    2. protein binding Source: UniProtKB
    3. receptor binding Source: UniProtKB

    GO - Biological processi

    1. antigen processing and presentation of peptide antigen via MHC class I Source: UniProtKB-KW
    2. cellular iron ion homeostasis Source: ProtInc
    3. cellular response to iron ion starvation Source: Ensembl
    4. female pregnancy Source: Ensembl
    5. hormone biosynthetic process Source: Ensembl
    6. immune response Source: InterPro
    7. iron ion import into cell Source: UniProtKB
    8. multicellular organismal iron ion homeostasis Source: Ensembl
    9. positive regulation of T cell mediated cytotoxicity Source: InterPro
    10. protein complex assembly Source: ProtInc

    Keywords - Biological processi

    Immunity, Ion transport, Iron transport, Transport

    Keywords - Ligandi

    Iron

    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
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:4886. HFE.

    Subcellular locationi

    GO - Cellular componenti

    1. apical part of cell Source: UniProtKB
    2. basal part of cell Source: UniProtKB
    3. cytoplasmic vesicle Source: UniProtKB
    4. early endosome Source: UniProtKB
    5. integral component of plasma membrane Source: ProtInc
    6. MHC class I protein complex Source: UniProtKB-KW
    7. perinuclear region of cytoplasm Source: UniProtKB
    8. plasma membrane Source: ProtInc
    9. recycling endosome Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, MHC I

    Pathology & Biotechi

    Involvement in diseasei

    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.17 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61R → S in HFE1. 1 Publication
    VAR_042506
    Natural varianti43 – 431G → D in HFE1; associated with D-63 in one patient. 1 Publication
    VAR_042507
    Natural varianti65 – 651S → C in HFE1; mild form. 5 Publications
    Corresponds to variant rs1800730 [ dbSNP | Ensembl ].
    VAR_004397
    Natural varianti66 – 661R → C in HFE1. 1 Publication
    VAR_042508
    Natural varianti93 – 931G → R in HFE1. 1 Publication
    Corresponds to variant rs28934597 [ dbSNP | Ensembl ].
    VAR_008729
    Natural varianti105 – 1051I → T in HFE1. 1 Publication
    Corresponds to variant rs28934596 [ dbSNP | Ensembl ].
    VAR_008730
    Natural varianti127 – 1271Q → H in HFE1. 1 Publication
    Corresponds to variant rs28934595 [ dbSNP | Ensembl ].
    VAR_008113
    Natural varianti176 – 1761A → V in HFE1; uncertain pathological significance. 1 Publication
    VAR_042509
    Natural varianti224 – 2241R → G in HFE1. 1 Publication
    VAR_042510
    Natural varianti282 – 2821C → 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 Publications
    Corresponds to variant rs1800562 [ dbSNP | Ensembl ].
    VAR_004398
    Natural varianti283 – 2831Q → 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. 1 Publication
    VAR_037304
    Natural varianti295 – 2951V → A in HFE1. 2 Publications
    Corresponds to variant rs143175221 [ dbSNP | Ensembl ].
    VAR_042511
    Natural varianti330 – 3301R → M in HFE1. 1 Publication
    VAR_008114
    Variegate porphyria (VP) [MIM:176200]: A 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.
    Note: 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.
    Microvascular complications of diabetes 7 (MVCD7) [MIM:612635]: Pathological 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.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi176200. phenotype.
    235200. phenotype.
    612635. phenotype.
    614193. phenotype.
    Orphaneti139498. Hemochromatosis type 1.
    101330. Porphyria cutanea tarda.
    79473. Porphyria variegata.
    PharmGKBiPA29263.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Add
    BLAST
    Chaini23 – 348326Hereditary hemochromatosis proteinPRO_0000018892Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi124 ↔ 187
    Glycosylationi130 – 1301N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi225 ↔ 282
    Glycosylationi234 – 2341N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ30201.
    PaxDbiQ30201.
    PRIDEiQ30201.

    PTM databases

    PhosphoSiteiQ30201.

    Expressioni

    Tissue specificityi

    Expressed in all tissues tested except brain.

    Gene expression databases

    ArrayExpressiQ30201.
    BgeeiQ30201.
    GenevestigatoriQ30201.

    Organism-specific databases

    HPAiHPA017276.

    Interactioni

    Subunit structurei

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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    B2MP617693EBI-1028850,EBI-714718

    Protein-protein interaction databases

    BioGridi109325. 5 interactions.
    DIPiDIP-2737N.
    IntActiQ30201. 8 interactions.
    MINTiMINT-7896047.

    Structurei

    Secondary structure

    1
    348
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi28 – 3811
    Beta strandi43 – 453
    Beta strandi48 – 536
    Beta strandi56 – 6510
    Beta strandi68 – 703
    Helixi75 – 784
    Turni79 – 824
    Helixi83 – 10725
    Turni108 – 1103
    Beta strandi112 – 1143
    Beta strandi117 – 12610
    Beta strandi132 – 1409
    Beta strandi143 – 1497
    Helixi150 – 1523
    Beta strandi154 – 1596
    Helixi160 – 1623
    Helixi163 – 1708
    Helixi174 – 18411
    Helixi186 – 19813
    Turni199 – 2013
    Beta strandi209 – 2168
    Beta strandi221 – 23313
    Beta strandi236 – 2416
    Helixi248 – 2503
    Beta strandi255 – 2584
    Beta strandi264 – 2729
    Helixi276 – 2794
    Beta strandi280 – 2856
    Beta strandi289 – 2913
    Beta strandi293 – 2964

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1A6ZX-ray2.60A/C23-297[»]
    1C42model-A26-293[»]
    1DE4X-ray2.80A/D/G23-297[»]
    ProteinModelPortaliQ30201.
    SMRiQ30201. Positions 26-297.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ30201.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini23 – 306284ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini331 – 34818CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei307 – 33024HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini207 – 29892Ig-like C1-typeAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni23 – 11492Alpha-1Add
    BLAST
    Regioni115 – 20591Alpha-2Add
    BLAST
    Regioni206 – 29792Alpha-3Add
    BLAST
    Regioni298 – 3069Connecting peptide

    Sequence similaritiesi

    Belongs to the MHC class I family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41118.
    HOGENOMiHOG000151270.
    HOVERGENiHBG016709.
    InParanoidiQ30201.
    OMAiVILGCEM.
    OrthoDBiEOG7JT6WQ.
    PhylomeDBiQ30201.
    TreeFamiTF336617.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    3.30.500.10. 1 hit.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003006. Ig/MHC_CS.
    IPR003597. Ig_C1-set.
    IPR011161. MHC_I-like_Ag-recog.
    IPR011162. MHC_I/II-like_Ag-recog.
    IPR027648. MHC_I_a.
    IPR001039. MHC_I_a_a1/a2.
    [Graphical view]
    PfamiPF07654. C1-set. 1 hit.
    PF00129. MHC_I. 1 hit.
    [Graphical view]
    PRINTSiPR01638. MHCCLASSI.
    SMARTiSM00407. IGc1. 1 hit.
    [Graphical view]
    SUPFAMiSSF54452. SSF54452. 1 hit.
    PROSITEiPS50835. IG_LIKE. 1 hit.
    PS00290. IG_MHC. 1 hit.
    [Graphical view]

    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. Align

    Note: Additional isoforms seem to exist.

    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

    MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL    50
    GYVDDQLFVF YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV 100
    DFWTIMENHN HSKESHTLQV ILGCEMQEDN STEGYWKYGY DGQDHLEFCP 150
    DTLDWRAAEP RAWPTKLEWE RHKIRARQNR AYLERDCPAQ LQQLLELGRG 200
    VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL KDKQPMDAKE 250
    FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS 300
    PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERE 348

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti230 – 2301Y → H in AAG29342. (PubMed:11358357)Curated
    Sequence conflicti248 – 2481A → T in AAG29575. (PubMed:11358357)Curated
    Sequence conflicti256 – 2561V → A in AAG29577. (PubMed:11358357)Curated
    Sequence conflicti275 – 2751G → E in AAG29342. (PubMed:11358357)Curated
    Sequence conflicti311 – 3111S → R in AAG29342. (PubMed:11358357)Curated
    Sequence conflicti339 – 3391M → V in AAG29577. (PubMed:11358357)Curated

    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61R → S in HFE1. 1 Publication
    VAR_042506
    Natural varianti43 – 431G → D in HFE1; associated with D-63 in one patient. 1 Publication
    VAR_042507
    Natural varianti53 – 531V → M.2 Publications
    Corresponds to variant rs28934889 [ dbSNP | Ensembl ].
    VAR_008111
    Natural varianti59 – 591V → M.1 Publication
    Corresponds to variant rs28934890 [ dbSNP | Ensembl ].
    VAR_008112
    Natural varianti63 – 631H → D Polymorphism associated with hemochromatosis and variegate porphyria; increased frequency among patients with diabetic nephropathy. 11 Publications
    Corresponds to variant rs1799945 [ dbSNP | Ensembl ].
    VAR_004396
    Natural varianti65 – 651S → C in HFE1; mild form. 5 Publications
    Corresponds to variant rs1800730 [ dbSNP | Ensembl ].
    VAR_004397
    Natural varianti66 – 661R → C in HFE1. 1 Publication
    VAR_042508
    Natural varianti93 – 931G → R in HFE1. 1 Publication
    Corresponds to variant rs28934597 [ dbSNP | Ensembl ].
    VAR_008729
    Natural varianti105 – 1051I → T in HFE1. 1 Publication
    Corresponds to variant rs28934596 [ dbSNP | Ensembl ].
    VAR_008730
    Natural varianti127 – 1271Q → H in HFE1. 1 Publication
    Corresponds to variant rs28934595 [ dbSNP | Ensembl ].
    VAR_008113
    Natural varianti176 – 1761A → V in HFE1; uncertain pathological significance. 1 Publication
    VAR_042509
    Natural varianti217 – 2171T → I.
    Corresponds to variant rs4986950 [ dbSNP | Ensembl ].
    VAR_020270
    Natural varianti224 – 2241R → G in HFE1. 1 Publication
    VAR_042510
    Natural varianti224 – 2241R → Q.1 Publication
    Corresponds to variant rs62625346 [ dbSNP | Ensembl ].
    VAR_062279
    Natural varianti277 – 2771E → K Rare polymorphism. 1 Publication
    Corresponds to variant rs140080192 [ dbSNP | Ensembl ].
    VAR_008731
    Natural varianti282 – 2821C → 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 Publications
    Corresponds to variant rs1800562 [ dbSNP | Ensembl ].
    VAR_004398
    Natural varianti283 – 2831Q → 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. 1 Publication
    VAR_037304
    Natural varianti295 – 2951V → A in HFE1. 2 Publications
    Corresponds to variant rs143175221 [ dbSNP | Ensembl ].
    VAR_042511
    Natural varianti330 – 3301R → M in HFE1. 1 Publication
    VAR_008114

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei26 – 11489RSHSL…NHSKE → Q in isoform 2 and isoform 4. 2 PublicationsVSP_003218Add
    BLAST
    Alternative sequencei26 – 4924RSHSL…SLFEA → P in isoform 5. 1 PublicationVSP_003219Add
    BLAST
    Alternative sequencei26 – 261R → Q in isoform 11. 1 PublicationVSP_043477
    Alternative sequencei26 – 261R → L in isoform 6. 1 PublicationVSP_047336
    Alternative sequencei27 – 298272Missing in isoform 11. 1 PublicationVSP_043478Add
    BLAST
    Alternative sequencei27 – 206180Missing in isoform 6. 1 PublicationVSP_003220Add
    BLAST
    Alternative sequencei114 – 219106Missing in isoform 10. 1 PublicationVSP_003222Add
    BLAST
    Alternative sequencei114 – 20592Missing in isoform 7. 2 PublicationsVSP_003221Add
    BLAST
    Alternative sequencei144 – 16118DHLEF…AAEPR → VLQDTIYSSEVSSLGIKF in isoform 9. 1 PublicationVSP_003223Add
    BLAST
    Alternative sequencei162 – 348187Missing in isoform 9. 1 PublicationVSP_003224Add
    BLAST
    Alternative sequencei207 – 22014Missing in isoform 3 and isoform 4. 1 PublicationVSP_003225Add
    BLAST
    Alternative sequencei275 – 2762GE → KY in isoform 8. 1 PublicationVSP_003226
    Alternative sequencei277 – 34872Missing in isoform 8. 1 PublicationVSP_003227Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_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.1. human. [Q30201-1]
    uc003nfy.1. human. [Q30201-5]
    uc003nfz.1. human. [Q30201-2]
    uc003nga.1. human. [Q30201-3]
    uc003ngb.1. human. [Q30201-10]
    uc003ngc.1. human. [Q30201-7]
    uc003ngd.1. human. [Q30201-4]
    uc003nge.1. human. [Q30201-6]
    uc003ngf.1. human. [Q30201-11]

    Polymorphism databases

    DMDMi2497915.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

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

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS4578.1. [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 ]
    RefSeqi NP_000401.1. NM_000410.3. [Q30201-1 ]
    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 ]
    UniGenei Hs.233325.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1A6Z X-ray 2.60 A/C 23-297 [» ]
    1C42 model - A 26-293 [» ]
    1DE4 X-ray 2.80 A/D/G 23-297 [» ]
    ProteinModelPortali Q30201.
    SMRi Q30201. Positions 26-297.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109325. 5 interactions.
    DIPi DIP-2737N.
    IntActi Q30201. 8 interactions.
    MINTi MINT-7896047.

    PTM databases

    PhosphoSitei Q30201.

    Polymorphism databases

    DMDMi 2497915.

    Proteomic databases

    MaxQBi Q30201.
    PaxDbi Q30201.
    PRIDEi Q30201.

    Protocols and materials databases

    DNASUi 3077.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317896 ; 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 ]
    GeneIDi 3077.
    KEGGi hsa:3077.
    UCSCi uc003nfx.1. human. [Q30201-1 ]
    uc003nfy.1. human. [Q30201-5 ]
    uc003nfz.1. human. [Q30201-2 ]
    uc003nga.1. human. [Q30201-3 ]
    uc003ngb.1. human. [Q30201-10 ]
    uc003ngc.1. human. [Q30201-7 ]
    uc003ngd.1. human. [Q30201-4 ]
    uc003nge.1. human. [Q30201-6 ]
    uc003ngf.1. human. [Q30201-11 ]

    Organism-specific databases

    CTDi 3077.
    GeneCardsi GC06P026087.
    GeneReviewsi HFE.
    H-InvDB HIX0025100.
    HGNCi HGNC:4886. HFE.
    HPAi HPA017276.
    MIMi 176200. phenotype.
    235200. phenotype.
    612635. phenotype.
    613609. gene.
    614193. phenotype.
    neXtProti NX_Q30201.
    Orphaneti 139498. Hemochromatosis type 1.
    101330. Porphyria cutanea tarda.
    79473. Porphyria variegata.
    PharmGKBi PA29263.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41118.
    HOGENOMi HOG000151270.
    HOVERGENi HBG016709.
    InParanoidi Q30201.
    OMAi VILGCEM.
    OrthoDBi EOG7JT6WQ.
    PhylomeDBi Q30201.
    TreeFami TF336617.

    Miscellaneous databases

    EvolutionaryTracei Q30201.
    GeneWikii HFE_(gene).
    GenomeRNAii 3077.
    NextBioi 12169.
    PROi Q30201.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q30201.
    Bgeei Q30201.
    Genevestigatori Q30201.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    3.30.500.10. 1 hit.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003006. Ig/MHC_CS.
    IPR003597. Ig_C1-set.
    IPR011161. MHC_I-like_Ag-recog.
    IPR011162. MHC_I/II-like_Ag-recog.
    IPR027648. MHC_I_a.
    IPR001039. MHC_I_a_a1/a2.
    [Graphical view ]
    Pfami PF07654. C1-set. 1 hit.
    PF00129. MHC_I. 1 hit.
    [Graphical view ]
    PRINTSi PR01638. MHCCLASSI.
    SMARTi SM00407. IGc1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54452. SSF54452. 1 hit.
    PROSITEi PS50835. IG_LIKE. 1 hit.
    PS00290. IG_MHC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT HFE1 TYR-282, VARIANT ASP-63.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
    3. "The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is located in syntenic regions within the histone gene."
      Albig W., Drabent B., Burmester N., Bode C., Doenecke D.
      J. Cell. Biochem. 69:117-126(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    4. "Hereditary hemochromatosis genomic structure and organization of HLA-H gene."
      Gasparini P.
      Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    5. "Alternate splice variants of the hemochromatosis gene Hfe."
      Rhodes D.A., Trowsdale J.
      Immunogenetics 49:357-359(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4).
    6. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 7; 8; 9 AND 10).
    7. "Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms."
      Sanchez M., Bruguera M., Rodos J., Oliva R.
      Blood Cells Mol. Dis. 27:35-43(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 5; 6; 7 AND 11).
    8. NIEHS SNPs program
      Submitted (FEB-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MET-53; ASP-63; GLN-224 AND TYR-282.
    9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Colon.
    11. "The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding."
      Feder J.N., Penny D.M., Irrinki A., Lee V.K., Lebron J.A., Watson N., Tsuchihashi Z., Sigal E., Bjorkman P.J., Schatzman R.C.
      Proc. Natl. Acad. Sci. U.S.A. 95:1472-1477(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    12. "Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels."
      Benyamin B., McRae A.F., Zhu G., Gordon S., Henders A.K., Palotie A., Peltonen L., Martin N.G., Montgomery G.W., Whitfield J.B., Visscher P.M.
      Am. J. Hum. Genet. 84:60-65(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN TFQTL2.
    13. "Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor."
      Lebron J.A., Bennett M.J., Vaughn D.E., Chirino A.J., Snow P.M., Mintier G.A., Feder J.N., Bjorkman P.J.
      Cell 93:111-123(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 23-297 IN COMPLEX WITH TFR.
    14. "A 3-dimensional model building by homology of the HFE protein: molecular consequences and application to antibody development."
      Dupradeau F., Altenberg-Greulich B., Warin R., Fuentes V., Monti J., Rochette J.
      Biochim. Biophys. Acta 1481:213-221(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: 3D-STRUCTURE MODELING OF 26-293 IN COMPLEX WITH B2MG.
    15. "Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor."
      Bennett M.J., Lebron J.A., Bjorkman P.J.
      Nature 403:46-53(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 26-297 IN COMPLEX WITH TFR.
    16. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
    17. "Mutation analysis of the HLA-H gene in Italian hemochromatosis patients."
      Carella M., D'Ambrosio L., Totaro A., Grifa A., Valentino M.A., Piperno A., Girelli D., Roetto A., Franco B., Gasparini P., Camaschella C.
      Am. J. Hum. Genet. 60:828-832(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE1 TYR-282, VARIANT ASP-63.
    18. "Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda."
      Roberts A.G., Whatley S.D., Morgan R.R., Worwood M., Elder G.H.
      Lancet 349:321-323(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE1 TYR-282, ASSOCIATION WITH PORPHYRIA CUTANEA TARDA.
    19. "High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda."
      Sampietro M., Piperno A., Lupica L., Arosio C., Vergani A., Corbetta N., Malosio I., Mattioli M., Fracanzani A.L., Cappellini M.D., Fiorelli G., Fargion S.
      Hepatology 27:181-184(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASP-63.
    20. Cited for: VARIANT HFE1 TYR-282, VARIANT ASP-63.
    21. "HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis."
      Mura C., Raguenes O., Ferec C.
      Blood 93:2502-2505(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HFE1 CYS-65 AND TYR-282, VARIANT ASP-63.
    22. "Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands."
      Barton J.C., Sawada-Hirai R., Rothenberg B.E., Acton R.T.
      Blood Cells Mol. Dis. 25:147-155(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HFE1 CYS-65; ARG-93 AND THR-105.
    23. "Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria."
      de Villiers J.N.P., Hillermann R., Loubser L., Kotze M.J.
      Hum. Mol. Genet. 8:1517-1522(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HFE1 HIS-127 AND MET-330, VARIANTS MET-53; MET-59 AND ASP-63.
    24. "A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations."
      Merryweather-Clarke A.T., Simonsen H., Shearman J.D., Pointon J.J., Norgaard-Pedersen B., Robson K.J.H.
      Hum. Mutat. 13:154-159(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE1 TYR-282, VARIANT ASP-63.
    25. "A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis."
      Fagan E., Payne S.J.
      Hum. Mutat. 13:507-508(1999)
      Cited for: VARIANT HFE1 CYS-65.
    26. "Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE."
      Bradbury R., Fagan E., Payne S.J.
      Hum. Mutat. 15:120-120(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LYS-277.
    27. "Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda."
      Brady J.J., Jackson H.A., Roberts A.G., Morgan R.R., Whatley S.D., Rowlands G.L., Darby C., Shudell E., Watson R., Paiker J., Worwood M.W., Elder G.H.
      J. Invest. Dermatol. 115:868-874(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ASP-63 AND TYR-282.
    28. "Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy."
      Moczulski D.K., Grzeszczak W., Gawlik B.
      Diabetes Care 24:1187-1191(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE1 TYR-282, VARIANT ASP-63, ASSOCIATION WITH DIABETIC NEPHROPATHY SUSCEPTIBILITY.
    29. "Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene."
      Imanishi H., Liu W., Cheng J., Ikeda N., Amuro Y., Hada T.
      Intern. Med. 40:479-483(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE1 VAL-176.
    30. Cited for: VARIANTS HFE1 CYS-65; TYR-282 AND ALA-295.
    31. "Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect."
      Le Gac G., Dupradeau F.-Y., Mura C., Jacolot S., Scotet V., Esnault G., Mercier A.-Y., Rochette J., Ferec C.
      Blood Cells Mol. Dis. 30:231-237(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE1 PRO-283, CHARACTERIZATION OF VARIANT HFE1 PRO-283.
    32. "Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload."
      Biasiotto G., Belloli S., Ruggeri G., Zanella I., Gerardi G., Corrado M., Gobbi E., Albertini A., Arosio P.
      Clin. Chem. 49:1981-1988(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HFE1 CYS-65; CYS-66; GLY-224 AND TYR-282.
    33. "Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation."
      Wigg A.J., Harley H., Casey G.
      Gut 52:433-435(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE1 SER-6.
    34. "Gene symbol: HFE. Disease: haemochromatosis."
      Bento M.C., Ribeiro M.L., Relvas L.
      Hum. Genet. 114:405-405(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE1 ALA-295.
    35. "The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein."
      Ka C., Le Gac G., Dupradeau F.-Y., Rochette J., Ferec C.
      Hum. Genet. 117:467-475(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT HFE1 PRO-283.
    36. "An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1."
      Dupradeau F.-Y., Pissard S., Coulhon M.-P., Cadet E., Foulon K., Fourcade C., Goossens M., Case D.A., Rochette J.
      Hum. Mutat. 29:206-206(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HFE1 ASP-43 AND TYR-282, VARIANT ASP-63.

    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 historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 162 of the entry and version 1 of the sequence. [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. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3