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Q6ZVN8

- RGMC_HUMAN

UniProt

Q6ZVN8 - RGMC_HUMAN

Protein

Hemojuvelin

Gene

HFE2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. 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. Could represent the cellular receptor for hepcidin.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei172 – 1732Cleavage; by autolysisBy similarity

    GO - Molecular functioni

    1. coreceptor activity Source: Ensembl
    2. protein binding Source: UniProtKB

    GO - Biological processi

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

    Enzyme and pathway databases

    ReactomeiREACT_22237. Netrin-1 signaling.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hemojuvelin
    Alternative name(s):
    Hemochromatosis type 2 protein
    RGM domain family member C
    Gene namesi
    Name:HFE2
    Synonyms:HJV, RGMC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4887. 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: Ensembl
    3. extracellular space Source: Ensembl
    4. plasma membrane Source: MGI

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hemochromatosis 2A (HFE2A) [MIM:602390]: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti80 – 801C → R in HFE2A. 1 Publication
    Corresponds to variant rs28940586 [ dbSNP | Ensembl ].
    VAR_019617
    Natural varianti85 – 851S → P in HFE2A. 1 Publication
    VAR_019618
    Natural varianti99 – 991G → R in HFE2A. 1 Publication
    VAR_019619
    Natural varianti101 – 1011L → P in HFE2A. 1 Publication
    VAR_019620
    Natural varianti168 – 1681A → D in HFE2A. 1 Publication
    VAR_019621
    Natural varianti170 – 1701F → S in HFE2A. 1 Publication
    VAR_019622
    Natural varianti172 – 1721D → E in HFE2A. 1 Publication
    VAR_019623
    Natural varianti191 – 1911W → C in HFE2A. 1 Publication
    VAR_019624
    Natural varianti205 – 2051S → R in HFE2A. 1 Publication
    VAR_019625
    Natural varianti222 – 2221I → N in HFE2A. 2 Publications
    VAR_019626
    Natural varianti250 – 2501G → V in HFE2A. 1 Publication
    VAR_019627
    Natural varianti288 – 2881R → W in HFE2A. 1 Publication
    VAR_019628
    Natural varianti320 – 3201G → V in HFE2A. 4 Publications
    VAR_019629
    Natural varianti321 – 3211C → W in HFE2A. 1 Publication
    VAR_019927

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi602390. phenotype.
    Orphaneti79230. Hemochromatosis type 2.
    PharmGKBiPA29264.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3535Sequence AnalysisAdd
    BLAST
    Chaini36 – 400365HemojuvelinPRO_0000030398Add
    BLAST
    Propeptidei401 – 42626Removed in mature formSequence AnalysisPRO_0000030399Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi118 – 1181N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi148 ↔ 230By similarity
    Disulfide bondi167 ↔ 317By similarity
    Glycosylationi213 – 2131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi372 – 3721N-linked (GlcNAc...)Sequence Analysis
    Lipidationi400 – 4001GPI-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

    PaxDbiQ6ZVN8.
    PRIDEiQ6ZVN8.

    PTM databases

    PhosphoSiteiQ6ZVN8.

    Expressioni

    Tissue specificityi

    Adult and fetal liver, heart, and skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ6ZVN8.
    BgeeiQ6ZVN8.
    CleanExiHS_HFE2.
    GenevestigatoriQ6ZVN8.

    Organism-specific databases

    HPAiHPA014472.

    Interactioni

    Subunit structurei

    Interacts with BMP2 and BMP4 By similarity. Interacts with BMPR1B. Interacts with TMPRSS6.By similarity2 Publications

    Protein-protein interaction databases

    STRINGi9606.ENSP00000337014.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZVN8.
    SMRiQ6ZVN8. Positions 173-326.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi64 – 7815Poly-GlyAdd
    BLAST
    Compositional biasi127 – 1304Poly-Pro

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG87951.
    HOGENOMiHOG000013072.
    HOVERGENiHBG057627.
    InParanoidiQ6ZVN8.
    KOiK06847.
    OMAiPPGFLHC.
    PhylomeDBiQ6ZVN8.
    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 (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform a (identifier: Q6ZVN8-1) [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

    MGEPGQSPSP RSSHGSPPTL STLTLLLLLC GHAHSQCKIL RCNAEYVSST    50
    LSLRGGGSSG ALRGGGGGGR GGGVGSGGLC RALRSYALCT RRTARTCRGD 100
    LAFHSAVHGI EDLMIQHNCS RQGPTAPPPP RGPALPGAGS GLPAPDPCDY 150
    EGRFSRLHGR PPGFLHCASF GDPHVRSFHH HFHTCRVQGA WPLLDNDFLF 200
    VQATSSPMAL GANATATRKL TIIFKNMQEC IDQKVYQAEV DNLPVAFEDG 250
    SINGGDRPGG SSLSIQTANP GNHVEIQAAY IGTTIIIRQT AGQLSFSIKV 300
    AEDVAMAFSA EQDLQLCVGG CPPSQRLSRS ERNRRGAITI DTARRLCKEG 350
    LPVEDAYFHS CVFDVLISGD PNFTVAAQAA LEDARAFLPD LEKLHLFPSD 400
    AGVPLSSATL LAPLLSGLFV LWLCIQ 426
    Length:426
    Mass (Da):45,080
    Last modified:July 5, 2004 - v1
    Checksum:i031C835F9B6DC06C
    GO
    Isoform b (identifier: Q6ZVN8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-113: Missing.

    Show »
    Length:313
    Mass (Da):33,679
    Checksum:i0B056ED5D92B26E6
    GO
    Isoform c (identifier: Q6ZVN8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-226: Missing.

    Show »
    Length:200
    Mass (Da):21,463
    Checksum:i7A7F39D3AD7F8CC5
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti69 – 691G → GG in ABC40718. 1 PublicationCurated
    Sequence conflicti299 – 2991K → E in BAC03944. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti80 – 801C → R in HFE2A. 1 Publication
    Corresponds to variant rs28940586 [ dbSNP | Ensembl ].
    VAR_019617
    Natural varianti85 – 851S → P in HFE2A. 1 Publication
    VAR_019618
    Natural varianti99 – 991G → R in HFE2A. 1 Publication
    VAR_019619
    Natural varianti101 – 1011L → P in HFE2A. 1 Publication
    VAR_019620
    Natural varianti168 – 1681A → D in HFE2A. 1 Publication
    VAR_019621
    Natural varianti170 – 1701F → S in HFE2A. 1 Publication
    VAR_019622
    Natural varianti172 – 1721D → E in HFE2A. 1 Publication
    VAR_019623
    Natural varianti191 – 1911W → C in HFE2A. 1 Publication
    VAR_019624
    Natural varianti205 – 2051S → R in HFE2A. 1 Publication
    VAR_019625
    Natural varianti222 – 2221I → N in HFE2A. 2 Publications
    VAR_019626
    Natural varianti250 – 2501G → V in HFE2A. 1 Publication
    VAR_019627
    Natural varianti288 – 2881R → W in HFE2A. 1 Publication
    VAR_019628
    Natural varianti310 – 3101A → G.
    Corresponds to variant rs7540883 [ dbSNP | Ensembl ].
    VAR_053636
    Natural varianti320 – 3201G → V in HFE2A. 4 Publications
    VAR_019629
    Natural varianti321 – 3211C → W in HFE2A. 1 Publication
    VAR_019927

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 226226Missing in isoform c. 1 PublicationVSP_011320Add
    BLAST
    Alternative sequencei1 – 113113Missing in isoform b. 2 PublicationsVSP_011319Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY372521 mRNA. Translation: AAR22390.1.
    AK092682 mRNA. Translation: BAC03944.1.
    AK124273 mRNA. Translation: BAC85823.1.
    AK092692 mRNA. Translation: BAC03947.1.
    AK096905 mRNA. Translation: BAC04890.1.
    DQ309445 Genomic DNA. Translation: ABC40718.1.
    AL355505, AL138842 Genomic DNA. Translation: CAI22091.1.
    AL138842, AL355505 Genomic DNA. Translation: CAI22349.1.
    CH471244 Genomic DNA. Translation: EAW71408.1.
    BC017926 mRNA. Translation: AAH17926.1.
    BC085604 mRNA. Translation: AAH85604.1.
    CCDSiCCDS910.1. [Q6ZVN8-1]
    CCDS911.1. [Q6ZVN8-2]
    CCDS912.1. [Q6ZVN8-3]
    RefSeqiNP_660320.3. NM_145277.4. [Q6ZVN8-2]
    NP_973733.1. NM_202004.3. [Q6ZVN8-3]
    NP_998817.1. NM_213652.3. [Q6ZVN8-3]
    NP_998818.1. NM_213653.3. [Q6ZVN8-1]
    XP_005272989.1. XM_005272932.1. [Q6ZVN8-1]
    UniGeneiHs.632436.

    Genome annotation databases

    EnsembliENST00000336751; ENSP00000337014; ENSG00000168509. [Q6ZVN8-1]
    ENST00000357836; ENSP00000350495; ENSG00000168509. [Q6ZVN8-2]
    ENST00000475797; ENSP00000425716; ENSG00000168509. [Q6ZVN8-3]
    ENST00000497365; ENSP00000421820; ENSG00000168509. [Q6ZVN8-3]
    GeneIDi148738.
    KEGGihsa:148738.
    UCSCiuc001eni.2. human. [Q6ZVN8-1]
    uc001enj.2. human. [Q6ZVN8-3]

    Polymorphism databases

    DMDMi51316254.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY372521 mRNA. Translation: AAR22390.1 .
    AK092682 mRNA. Translation: BAC03944.1 .
    AK124273 mRNA. Translation: BAC85823.1 .
    AK092692 mRNA. Translation: BAC03947.1 .
    AK096905 mRNA. Translation: BAC04890.1 .
    DQ309445 Genomic DNA. Translation: ABC40718.1 .
    AL355505 , AL138842 Genomic DNA. Translation: CAI22091.1 .
    AL138842 , AL355505 Genomic DNA. Translation: CAI22349.1 .
    CH471244 Genomic DNA. Translation: EAW71408.1 .
    BC017926 mRNA. Translation: AAH17926.1 .
    BC085604 mRNA. Translation: AAH85604.1 .
    CCDSi CCDS910.1. [Q6ZVN8-1 ]
    CCDS911.1. [Q6ZVN8-2 ]
    CCDS912.1. [Q6ZVN8-3 ]
    RefSeqi NP_660320.3. NM_145277.4. [Q6ZVN8-2 ]
    NP_973733.1. NM_202004.3. [Q6ZVN8-3 ]
    NP_998817.1. NM_213652.3. [Q6ZVN8-3 ]
    NP_998818.1. NM_213653.3. [Q6ZVN8-1 ]
    XP_005272989.1. XM_005272932.1. [Q6ZVN8-1 ]
    UniGenei Hs.632436.

    3D structure databases

    ProteinModelPortali Q6ZVN8.
    SMRi Q6ZVN8. Positions 173-326.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000337014.

    PTM databases

    PhosphoSitei Q6ZVN8.

    Polymorphism databases

    DMDMi 51316254.

    Proteomic databases

    PaxDbi Q6ZVN8.
    PRIDEi Q6ZVN8.

    Protocols and materials databases

    DNASUi 148738.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000336751 ; ENSP00000337014 ; ENSG00000168509 . [Q6ZVN8-1 ]
    ENST00000357836 ; ENSP00000350495 ; ENSG00000168509 . [Q6ZVN8-2 ]
    ENST00000475797 ; ENSP00000425716 ; ENSG00000168509 . [Q6ZVN8-3 ]
    ENST00000497365 ; ENSP00000421820 ; ENSG00000168509 . [Q6ZVN8-3 ]
    GeneIDi 148738.
    KEGGi hsa:148738.
    UCSCi uc001eni.2. human. [Q6ZVN8-1 ]
    uc001enj.2. human. [Q6ZVN8-3 ]

    Organism-specific databases

    CTDi 148738.
    GeneCardsi GC01P145413.
    GeneReviewsi HFE2.
    HGNCi HGNC:4887. HFE2.
    HPAi HPA014472.
    MIMi 602390. phenotype.
    608374. gene.
    neXtProti NX_Q6ZVN8.
    Orphaneti 79230. Hemochromatosis type 2.
    PharmGKBi PA29264.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG87951.
    HOGENOMi HOG000013072.
    HOVERGENi HBG057627.
    InParanoidi Q6ZVN8.
    KOi K06847.
    OMAi PPGFLHC.
    PhylomeDBi Q6ZVN8.
    TreeFami TF329836.

    Enzyme and pathway databases

    Reactomei REACT_22237. Netrin-1 signaling.

    Miscellaneous databases

    GeneWikii Hemojuvelin.
    GenomeRNAii 148738.
    NextBioi 85978.
    PROi Q6ZVN8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6ZVN8.
    Bgeei Q6ZVN8.
    CleanExi HS_HFE2.
    Genevestigatori Q6ZVN8.

    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), ALTERNATIVE SPLICING, TISSUE SPECIFICITY, VARIANTS HFE2A ASN-222 AND VAL-320.
      Tissue: Liver.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B).
      Tissue: Liver and Skeletal muscle.
    3. NIEHS SNPs program
      Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. 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] (ISOFORMS B AND C).
      Tissue: PNS and Skeletal muscle.
    7. Cited for: INTERACTION WITH BMPR1B.
    8. "Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia."
      Silvestri L., Guillem F., Pagani A., Nai A., Oudin C., Silva M., Toutain F., Kannengiesser C., Beaumont C., Camaschella C., Grandchamp B.
      Blood 113:5605-5608(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TMPRSS6.
    9. Cited for: VARIANTS HFE2A PRO-85; ARG-99; ASP-168; SER-170; GLU-172; CYS-191; ARG-205; VAL-250; TRP-288 AND VAL-320.
    10. "Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin."
      Lee P.L., Beutler E., Rao S.V., Barton J.C.
      Blood 103:4669-4671(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HFE2A ARG-80; PRO-101; ASN-222 AND VAL-320.
    11. "Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis."
      Lee P.L., Barton J.C., Brandhagen D., Beutler E.
      Br. J. Haematol. 127:224-229(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HFE2A VAL-320 AND TRP-321.

    Entry informationi

    Entry nameiRGMC_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZVN8
    Secondary accession number(s): B1ALI7
    , Q2PQ63, Q6IMF6, Q8NAH2, Q8WVJ5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2004
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 102 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3