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P70387

- HFE_MOUSE

UniProt

P70387 - HFE_MOUSE

Protein

Hereditary hemochromatosis protein homolog

Gene

Hfe

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (27 Jul 2011)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. peptide antigen binding Source: InterPro

    GO - Biological processi

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

    Keywords - Biological processi

    Immunity

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hereditary hemochromatosis protein homolog
    Gene namesi
    Name:Hfe
    Synonyms:Mr2
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 13

    Organism-specific databases

    MGIiMGI:109191. Hfe.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane, MHC I

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Chaini25 – 359335Hereditary hemochromatosis protein homologPRO_0000018894Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi114 – 1141N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi136 ↔ 199PROSITE-ProRule annotation
    Glycosylationi142 – 1421N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi166 – 1661N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi237 ↔ 294PROSITE-ProRule annotation
    Glycosylationi246 – 2461N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP70387.
    PRIDEiP70387.

    PTM databases

    PhosphoSiteiP70387.

    Expressioni

    Gene expression databases

    ArrayExpressiP70387.
    BgeeiP70387.
    CleanExiMM_HFE.
    GenevestigatoriP70387.

    Interactioni

    Subunit structurei

    Binds TFR through the extracellular domain.

    Protein-protein interaction databases

    STRINGi10090.ENSMUSP00000089298.

    Structurei

    3D structure databases

    ProteinModelPortaliP70387.
    SMRiP70387. Positions 30-309.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini25 – 318294ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini340 – 35920CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei319 – 33921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini219 – 30890Ig-like C1-typeAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni25 – 126102Alpha-1Add
    BLAST
    Regioni127 – 21791Alpha-2Add
    BLAST
    Regioni218 – 30992Alpha-3Add
    BLAST
    Regioni310 – 3189Connecting peptide

    Sequence similaritiesi

    Belongs to the MHC class I family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41118.
    GeneTreeiENSGT00750000117285.
    HOGENOMiHOG000296917.
    HOVERGENiHBG016709.
    InParanoidiQ9D754.
    OMAiNHSKVTK.
    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]

    Sequencei

    Sequence statusi: Complete.

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

    P70387-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSLSAGLPVR PLLLLLLLLW SVAPQALPPR SHSLRYLFMG ASEPDLGLPL    50
    FEARGYVDDQ LFVSYNHESR RAEPRAPWIL EQTSSQLWLH LSQSLKGWDY 100
    MFIVDFWTIM GNYNHSKVTK LGVVSESHIL QVVLGCEVHE DNSTSGFWRY 150
    GYDGQDHLEF CPKTLNWSAA EPGAWATKVE WDEHKIRAKQ NRDYLEKDCP 200
    EQLKRLLELG RGVLGQQVPT LVKVTRHWAS TGTSLRCQAL DFFPQNITMR 250
    WLKDNQPLDA KDVNPEKVLP NGDETYQGWL TLAVAPGDET RFTCQVEHPG 300
    LDQPLTASWE PLQSQAMIIG IISGVTVCAI FLVGILFLIL RKRKASGGTM 350
    GGYVLTDCE 359
    Length:359
    Mass (Da):40,534
    Last modified:July 27, 2011 - v2
    Checksum:i586657B7F9FF20B4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti327 – 3271V → I in AAC03447. (PubMed:9396865)Curated
    Sequence conflicti327 – 3271V → I in AAB07525. 1 PublicationCurated
    Sequence conflicti327 – 3271V → I in AAI16745. (PubMed:15489334)Curated
    Sequence conflicti327 – 3271V → I in AAI16747. (PubMed:15489334)Curated
    Sequence conflicti327 – 3271V → I in CAA73197. 1 PublicationCurated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF007558 Genomic DNA. Translation: AAC03447.1.
    U66849 mRNA. Translation: AAB07525.1.
    AK009581 mRNA. Translation: BAB26373.1.
    AK150697 mRNA. Translation: BAE29776.1.
    AL590388 Genomic DNA. Translation: CAI25849.2.
    CH466561 Genomic DNA. Translation: EDL32544.1.
    BC116744 mRNA. Translation: AAI16745.1.
    BC116746 mRNA. Translation: AAI16747.1.
    Y12650 Genomic DNA. Translation: CAA73197.1.
    U80604 Genomic DNA. Translation: AAB51504.1.
    CCDSiCCDS26360.1.
    PIRiJC5382.
    RefSeqiNP_034554.2. NM_010424.4.
    UniGeneiMm.2681.

    Genome annotation databases

    EnsembliENSMUST00000091706; ENSMUSP00000089298; ENSMUSG00000006611.
    GeneIDi15216.
    KEGGimmu:15216.
    UCSCiuc007pup.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF007558 Genomic DNA. Translation: AAC03447.1 .
    U66849 mRNA. Translation: AAB07525.1 .
    AK009581 mRNA. Translation: BAB26373.1 .
    AK150697 mRNA. Translation: BAE29776.1 .
    AL590388 Genomic DNA. Translation: CAI25849.2 .
    CH466561 Genomic DNA. Translation: EDL32544.1 .
    BC116744 mRNA. Translation: AAI16745.1 .
    BC116746 mRNA. Translation: AAI16747.1 .
    Y12650 Genomic DNA. Translation: CAA73197.1 .
    U80604 Genomic DNA. Translation: AAB51504.1 .
    CCDSi CCDS26360.1.
    PIRi JC5382.
    RefSeqi NP_034554.2. NM_010424.4.
    UniGenei Mm.2681.

    3D structure databases

    ProteinModelPortali P70387.
    SMRi P70387. Positions 30-309.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 10090.ENSMUSP00000089298.

    PTM databases

    PhosphoSitei P70387.

    Proteomic databases

    PaxDbi P70387.
    PRIDEi P70387.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000091706 ; ENSMUSP00000089298 ; ENSMUSG00000006611 .
    GeneIDi 15216.
    KEGGi mmu:15216.
    UCSCi uc007pup.1. mouse.

    Organism-specific databases

    CTDi 3077.
    MGIi MGI:109191. Hfe.

    Phylogenomic databases

    eggNOGi NOG41118.
    GeneTreei ENSGT00750000117285.
    HOGENOMi HOG000296917.
    HOVERGENi HBG016709.
    InParanoidi Q9D754.
    OMAi NHSKVTK.
    TreeFami TF336617.

    Miscellaneous databases

    NextBioi 287795.
    PROi P70387.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P70387.
    Bgeei P70387.
    CleanExi MM_HFE.
    Genevestigatori P70387.

    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 [GENOMIC DNA].
      Strain: 129/SvJ.
    2. Hashimoto K.
      Submitted (SEP-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: BALB/c.
      Tissue: Lung.
    3. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Bone marrow and Tongue.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    5. Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
      Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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].
      Tissue: Brain.
    7. "Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene."
      Hashimoto K., Hirai M., Kurosawa Y.
      Biochem. Biophys. Res. Commun. 230:35-39(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 37-211.
      Strain: BALB/c.
      Tissue: Liver.
    8. Albig W., Drabent B., Doenecke D.
      Submitted (MAY-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 79-359.
      Strain: 129.

    Entry informationi

    Entry nameiHFE_MOUSE
    AccessioniPrimary (citable) accession number: P70387
    Secondary accession number(s): Q14AQ5, Q5SZ90, Q9D754
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 27, 2011
    Last modified: October 1, 2014
    This is version 113 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3