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Q7TQ32

- RGMC_MOUSE

UniProt

Q7TQ32 - RGMC_MOUSE

Protein

Hemojuvelin

Gene

Hfe2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    Functioni

    Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism By similarity. Acts as a bone morphogenetic protein (BMP) coreceptor By similarity. Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism By similarity. May cooperate with hepcidin to restrict iron absorption in the gut By similarity. Could represent the cellular receptor for hepcidin By similarity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei165 – 1662Cleavage; by autolysisBy similarity

    GO - Molecular functioni

    1. coreceptor activity Source: MGI
    2. protein binding Source: MGI

    GO - Biological processi

    1. BMP signaling pathway Source: MGI
    2. iron ion homeostasis Source: MGI
    3. positive regulation of transcription from RNA polymerase II promoter Source: MGI

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hemojuvelin
    Alternative name(s):
    Hemochromatosis type 2 protein homolog
    RGM domain family member C
    Gene namesi
    Name:Hfe2
    Synonyms:Rgmc
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 3

    Organism-specific databases

    MGIiMGI:1916835. Hfe2.

    Subcellular locationi

    Cell membrane By similarity; Lipid-anchorGPI-anchor By similarity

    GO - Cellular componenti

    1. anchored component of membrane Source: UniProtKB-KW
    2. cell surface Source: MGI
    3. extracellular space Source: MGI
    4. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3232Sequence AnalysisAdd
    BLAST
    Chaini33 – 393361HemojuvelinPRO_0000030400Add
    BLAST
    Propeptidei394 – 42027Removed in mature formSequence AnalysisPRO_0000030401Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi111 – 1111N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi141 ↔ 223By similarity
    Disulfide bondi160 ↔ 310By similarity
    Glycosylationi206 – 2061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi365 – 3651N-linked (GlcNAc...)Sequence Analysis
    Lipidationi393 – 3931GPI-anchor amidated aspartateSequence Analysis

    Post-translational modificationi

    Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds.By similarity

    Keywords - PTMi

    Autocatalytic cleavage, Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

    Proteomic databases

    PaxDbiQ7TQ32.
    PRIDEiQ7TQ32.

    PTM databases

    PhosphoSiteiQ7TQ32.

    Miscellaneous databases

    PMAP-CutDBQ7TQ32.

    Expressioni

    Tissue specificityi

    Muscle cell lineage.1 Publication

    Developmental stagei

    Expressed at low levels in somite derived structures. In the developing eye, marked the ocular musculature. Expressed in all differentiating muscles of the limb and the body wall, but not in migrating muscle precursor cells. Not detected in the nervous system, either at E9.5 or at any stage later during development.1 Publication

    Gene expression databases

    BgeeiQ7TQ32.
    CleanExiMM_HFE2.
    GenevestigatoriQ7TQ32.

    Interactioni

    Subunit structurei

    Interacts with BMP2 and BMP4. Interacts with BMPR1B By similarity. Interacts with TMPRSS6 By similarity.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliQ7TQ32.
    SMRiQ7TQ32. Positions 166-319.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG87951.
    GeneTreeiENSGT00390000008488.
    HOGENOMiHOG000013072.
    HOVERGENiHBG057627.
    InParanoidiQ7TQ32.
    KOiK06847.
    OMAiPPGFLHC.
    OrthoDBiEOG7VQJDC.
    PhylomeDBiQ7TQ32.
    TreeFamiTF329836.

    Family and domain databases

    InterProiIPR009496. RGM_C.
    IPR010536. RGM_N.
    [Graphical view]
    PfamiPF06534. RGM_C. 1 hit.
    PF06535. RGM_N. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7TQ32-1) [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

    MGQSPSPRSP HGSPPTLSTL TLLLLLCGQA HSQCKILRCN AEYVSSTLSL    50
    RGGGSPDTPR GGGRGGLASG GLCRALRSYA LCTRRTARTC RGDLAFHSAV 100
    HGIEDLMIQH NCSRQGPTAP PPARGPALPG AGPAPLTPDP CDYEARFSRL 150
    HGRAPGFLHC ASFGDPHVRS FHNQFHTCRV QGAWPLLDND FLFVQATSSP 200
    VSSGANATTI RKITIIFKNM QECIDQKVYQ AEVDNLPAAF EDGSINGGDR 250
    PGGSSLSIQT ANLGSHVEIR AAYIGTTIII RQTAGQLSFS IRVAEDVARA 300
    FSAEQDLQLC VGGCPPSQRL SRSERNRRGA IAIDTARRLC KEGLPVEDAY 350
    FQSCVFDVSV SGDPNFTVAA QTALDDARIF LTDLENLHLF PSDAGPPLSP 400
    AICLVPLLSA LFVLWLCFSK 420
    Length:420
    Mass (Da):44,848
    Last modified:October 1, 2003 - v1
    Checksum:iB336B0686EDFC938
    GO
    Isoform 2 (identifier: Q7TQ32-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-219: Missing.

    Show »
    Length:201
    Mass (Da):21,648
    Checksum:iB37DB2624D621C28
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti264 – 2641G → W in BAC25423. (PubMed:16141072)Curated
    Sequence conflicti379 – 3791I → V in AAH22603. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 219219Missing in isoform 2. 2 PublicationsVSP_011321Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ557515 mRNA. Translation: CAD89720.1.
    AK009636 mRNA. Translation: BAB26407.1.
    AK014082 mRNA. Translation: BAC25423.1.
    BC022603 mRNA. Translation: AAH22603.1.
    CCDSiCCDS51003.1. [Q7TQ32-1]
    RefSeqiNP_081402.3. NM_027126.4. [Q7TQ32-1]
    XP_006502099.1. XM_006502036.1. [Q7TQ32-1]
    XP_006502100.1. XM_006502037.1. [Q7TQ32-1]
    UniGeneiMm.171314.

    Genome annotation databases

    EnsembliENSMUST00000049208; ENSMUSP00000046659; ENSMUSG00000038403. [Q7TQ32-1]
    GeneIDi69585.
    KEGGimmu:69585.
    UCSCiuc008qna.2. mouse. [Q7TQ32-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ557515 mRNA. Translation: CAD89720.1 .
    AK009636 mRNA. Translation: BAB26407.1 .
    AK014082 mRNA. Translation: BAC25423.1 .
    BC022603 mRNA. Translation: AAH22603.1 .
    CCDSi CCDS51003.1. [Q7TQ32-1 ]
    RefSeqi NP_081402.3. NM_027126.4. [Q7TQ32-1 ]
    XP_006502099.1. XM_006502036.1. [Q7TQ32-1 ]
    XP_006502100.1. XM_006502037.1. [Q7TQ32-1 ]
    UniGenei Mm.171314.

    3D structure databases

    ProteinModelPortali Q7TQ32.
    SMRi Q7TQ32. Positions 166-319.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q7TQ32.

    Proteomic databases

    PaxDbi Q7TQ32.
    PRIDEi Q7TQ32.

    Protocols and materials databases

    DNASUi 69585.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000049208 ; ENSMUSP00000046659 ; ENSMUSG00000038403 . [Q7TQ32-1 ]
    GeneIDi 69585.
    KEGGi mmu:69585.
    UCSCi uc008qna.2. mouse. [Q7TQ32-1 ]

    Organism-specific databases

    CTDi 148738.
    MGIi MGI:1916835. Hfe2.

    Phylogenomic databases

    eggNOGi NOG87951.
    GeneTreei ENSGT00390000008488.
    HOGENOMi HOG000013072.
    HOVERGENi HBG057627.
    InParanoidi Q7TQ32.
    KOi K06847.
    OMAi PPGFLHC.
    OrthoDBi EOG7VQJDC.
    PhylomeDBi Q7TQ32.
    TreeFami TF329836.

    Miscellaneous databases

    NextBioi 329852.
    PMAP-CutDB Q7TQ32.
    PROi Q7TQ32.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q7TQ32.
    CleanExi MM_HFE2.
    Genevestigatori Q7TQ32.

    Family and domain databases

    InterProi IPR009496. RGM_C.
    IPR010536. RGM_N.
    [Graphical view ]
    Pfami PF06534. RGM_C. 1 hit.
    PF06535. RGM_N. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and expression pattern of three mouse homologues of chick Rgm."
      Schmidtmer J., Engelkamp D.
      Gene Expr. Patterns 4:105-110(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
    2. "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] (ISOFORM 2).
      Strain: C57BL/6J.
      Tissue: Head and Tongue.
    3. "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 2).
      Strain: FVB/N.
      Tissue: Liver.
    4. Cited for: FUNCTION, INTERACTION WITH BMP2 AND BMP4.

    Entry informationi

    Entry nameiRGMC_MOUSE
    AccessioniPrimary (citable) accession number: Q7TQ32
    Secondary accession number(s): Q8CEU7, Q8K1D4, Q9D741
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2004
    Last sequence update: October 1, 2003
    Last modified: October 1, 2014
    This is version 85 of the entry and version 1 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