LOCUS       NM_213653               2126 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens hemojuvelin BMP co-receptor (HJV), transcript variant
            a, mRNA.
ACCESSION   NM_213653
VERSION     NM_213653.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2126)
  AUTHORS   Barton,J.C., Wiener,H.W. and Acton,R.T.
  TITLE     Estimates of West African Ancestry in African Americans Using
            Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2
  JOURNAL   Genet Test Mol Biomarkers 26 (2), 96-102 (2022)
   PUBMED   35225679
  REMARK    GeneRIF: Estimates of West African Ancestry in African Americans
            Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.
REFERENCE   2  (bases 1 to 2126)
  AUTHORS   Hernandez,G., Ferrer-Cortes,X., Venturi,V., Musri,M., Pilquil,M.F.,
            Torres,P.M.M., Rodriguez,I.H., Minguez,M.A.R., Kelleher,N.J.,
            Pelucchi,S., Piperno,A., Alberca,E.P., Ricos,G.G., Giro,E.C.,
            Perez-Montero,S., Tornador,C., Villa-Freixa,J. and Sanchez,M.
  TITLE     New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related
            Hereditary Hemochromatosis
  JOURNAL   Genes (Basel) 12 (12), 1980 (2021)
   PUBMED   34946929
  REMARK    GeneRIF: New Mutations in HFE2 and TFR2 Genes Causing Non
            HFE-Related Hereditary Hemochromatosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2126)
  AUTHORS   Young,G.H., Tang,S.C., Wu,V.C., Wang,K.C., Nong,J.Y., Huang,P.Y.,
            Hu,C.J., Chiou,H.Y., Jeng,J.S. and Hsu,C.Y.
  TITLE     The functional role of hemojuvelin in acute ischemic stroke
  JOURNAL   J Cereb Blood Flow Metab 40 (6), 1316-1327 (2020)
   PUBMED   31307288
  REMARK    GeneRIF: The functional role of hemojuvelin in acute ischemic
            stroke.
REFERENCE   4  (bases 1 to 2126)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2126)
  AUTHORS   Onofre,C., Tome,F., Barbosa,C., Silva,A.L. and Romao,L.
  TITLE     Expression of human Hemojuvelin (HJV) is tightly regulated by two
            upstream open reading frames in HJV mRNA that respond to iron
            overload in hepatic cells
  JOURNAL   Mol Cell Biol 35 (8), 1376-1389 (2015)
   PUBMED   25666510
  REMARK    GeneRIF: The study demonstrates that the two upstream open reading
            frames (with 28 and 19 codons) present in the 5' UTR of the human
            HJV mRNA have the ability to significantly decrease translational
            efficiency under normal conditions.
REFERENCE   6  (bases 1 to 2126)
  AUTHORS   Lee,P.L., Beutler,E., Rao,S.V. and Barton,J.C.
  TITLE     Genetic abnormalities and juvenile hemochromatosis: mutations of
            the HJV gene encoding hemojuvelin
  JOURNAL   Blood 103 (12), 4669-4671 (2004)
   PUBMED   14982867
  REMARK    GeneRIF: Various amino acid substitutions identified in
            hemochromatosis.
REFERENCE   7  (bases 1 to 2126)
  AUTHORS   Papanikolaou,G., Samuels,M.E., Ludwig,E.H., MacDonald,M.L.,
            Franchini,P.L., Dube,M.P., Andres,L., MacFarlane,J.,
            Sakellaropoulos,N., Politou,M., Nemeth,E., Thompson,J.,
            Risler,J.K., Zaborowska,C., Babakaiff,R., Radomski,C.C., Pape,T.D.,
            Davidas,O., Christakis,J., Brissot,P., Lockitch,G., Ganz,T.,
            Hayden,M.R. and Goldberg,Y.P.
  TITLE     Mutations in HFE2 cause iron overload in chromosome 1q-linked
            juvenile hemochromatosis
  JOURNAL   Nat Genet 36 (1), 77-82 (2004)
   PUBMED   14647275
  REMARK    GeneRIF: Here we report the positional cloning of the locus
            associated with juvenile hemochromatosis and the identification of
            a new gene crucial to iron metabolism.
REFERENCE   8  (bases 1 to 2126)
  AUTHORS   Roetto,A., Totaro,A., Cazzola,M., Cicilano,M., Bosio,S.,
            D'Ascola,G., Carella,M., Zelante,L., Kelly,A.L., Cox,T.M.,
            Gasparini,P. and Camaschella,C.
  TITLE     Juvenile hemochromatosis locus maps to chromosome 1q
  JOURNAL   Am J Hum Genet 64 (5), 1388-1393 (1999)
   PUBMED   10205270
REFERENCE   9  (bases 1 to 2126)
  AUTHORS   Feder,J.N., Penny,D.M., Irrinki,A., Lee,V.K., Lebron,J.A.,
            Watson,N., Tsuchihashi,Z., Sigal,E., Bjorkman,P.J. and
            Schatzman,R.C.
  TITLE     The hemochromatosis gene product complexes with the transferrin
            receptor and lowers its affinity for ligand binding
  JOURNAL   Proc Natl Acad Sci U S A 95 (4), 1472-1477 (1998)
   PUBMED   9465039
REFERENCE   10 (bases 1 to 2126)
  AUTHORS   Piperno,A., Bertola,F. and Bentivegna,A.
  TITLE     Juvenile Hemochromatosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301349
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC243547.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 1, 2020 this sequence version replaced NM_213653.3.
            
            Summary: The product of this gene is involved in iron metabolism.
            It may be a component of the signaling pathway which activates
            hepcidin or it may act as a modulator of hepcidin expression. It
            could also represent the cellular receptor for hepcidin. Two uORFs
            in the 5' UTR negatively regulate the expression and activity of
            the encoded protein. Alternatively spliced transcript variants
            encoding different isoforms have been identified for this gene.
            Defects in this gene are the cause of hemochromatosis type 2A, also
            called juvenile hemochromatosis (JH). JH is an early-onset
            autosomal recessive disorder due to severe iron overload resulting
            in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis
            and cardiomyopathy, occurring typically before age of 30. [provided
            by RefSeq, Oct 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK124273.1, AK292742.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336751.11/ ENSP00000337014.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            regulatory uORF        :: PMID: 25666510
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-149               AC243547.1         13485-13633
            150-335             AC243547.1         14900-15085
            336-895             AC243547.1         15486-16045
            896-2126            AC243547.1         16520-17750
FEATURES             Location/Qualifiers
     source          1..2126
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.1"
     gene            1..2126
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /note="hemojuvelin BMP co-receptor"
                     /db_xref="GeneID:148738"
                     /db_xref="HGNC:HGNC:4887"
                     /db_xref="MIM:608374"
     exon            1..149
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      103..186
                     /regulatory_class="uORF"
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:25666510]"
                     /note="this uORF is known as uORF1 and is predicted to
                     encode a 28 aa peptide (PMID:25666510)"
     regulatory      130..186
                     /regulatory_class="uORF"
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:25666510]"
                     /note="this uORF is known as uORF2 and is predicted to
                     encode a 19 aa peptide (PMID:25666510)"
     exon            150..335
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /inference="alignment:Splign:2.1.0"
     CDS             239..1519
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /note="isoform a precursor is encoded by transcript
                     variant a; haemojuvelin; repulsive guidance molecule c;
                     hemochromatosis type 2 protein; hemochromatosis type 2
                     (juvenile); RGM domain family member C; hemojuvelin BMP
                     coreceptor"
                     /codon_start=1
                     /product="hemojuvelin isoform a precursor"
                     /protein_id="NP_998818.1"
                     /db_xref="CCDS:CCDS72879.1"
                     /db_xref="GeneID:148738"
                     /db_xref="HGNC:HGNC:4887"
                     /db_xref="MIM:608374"
                     /translation="MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNA
                     EYVSSTLSLRGGGSSGALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLA
                     FHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGR
                     PPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATR
                     KLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEI
                     QAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNR
                     RGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLE
                     KLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ"
     exon            336..895
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /inference="alignment:Splign:2.1.0"
     exon            896..2126
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2101..2106
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /note="hexamer: ATTAAA"
     polyA_site      2126
                     /gene="HJV"
                     /gene_synonym="HFE2; HFE2A; JH; RGMC"
                     /note="major polyA site"
ORIGIN      
        1 cttctctggt tccctgacct cagtgagaca gcagccggcc tggggacctg ggggagacac
       61 ggaggacccc ctggctggag ctgacccaca gagtagggaa tcatggctgg agaattggat
      121 agcagagtaa tgtttgacct ctggaaacat cacttacagg gcttccggtc aaaattcact
      181 aggtaggagg gtcatcagct gggaagaacc ggcgcctggg aaacctggct ggataggtat
      241 gggggagcca ggccagtccc ctagtcccag gtcctcccat ggcagtcccc caactctaag
      301 cactctcact ctcctgctgc tcctctgtgg acatgctcat tctcaatgca agatcctccg
      361 ctgcaatgct gagtacgtat cgtccactct gagccttaga ggtgggggtt catcaggagc
      421 acttcgagga ggaggaggag gaggccgggg tggaggggtg ggctctggcg gcctctgtcg
      481 agccctccgc tcctatgcgc tctgcactcg gcgcaccgcc cgcacctgcc gcggggacct
      541 cgccttccat tcggcggtac atggcatcga agacctgatg atccagcaca actgctcccg
      601 ccagggccct acagcccctc ccccgccccg gggccccgcc cttccaggcg cgggctccgg
      661 cctccctgcc ccggaccctt gtgactatga aggccggttt tcccggctgc atggtcgtcc
      721 cccggggttc ttgcattgcg cttccttcgg ggacccccat gtgcgcagct tccaccatca
      781 ctttcacaca tgccgtgtcc aaggagcttg gcctctactg gataatgact tcctctttgt
      841 ccaagccacc agctccccca tggcgttggg ggccaacgct accgccaccc ggaagctcac
      901 catcatattt aagaacatgc aggaatgcat tgatcagaag gtgtatcagg ctgaggtgga
      961 taatcttcct gtagcctttg aagatggttc tatcaatgga ggtgaccgac ctgggggatc
     1021 cagtttgtcg attcaaactg ctaaccctgg gaaccatgtg gagatccaag ctgcctacat
     1081 tggcacaact ataatcattc ggcagacagc tgggcagctc tccttctcca tcaaggtagc
     1141 agaggatgtg gccatggcct tctcagctga acaggacctg cagctctgtg ttggggggtg
     1201 ccctccaagt cagcgactct ctcgatcaga gcgcaatcgt cggggagcta taaccattga
     1261 tactgccaga cggctgtgca aggaagggct tccagtggaa gatgcttact tccattcctg
     1321 tgtctttgat gttttaattt ctggtgatcc caactttacc gtggcagctc aggcagcact
     1381 ggaggatgcc cgagccttcc tgccagactt agagaagctg catctcttcc cctcagatgc
     1441 tggggttcct ctttcctcag caaccctctt agctccactc ctttctgggc tctttgttct
     1501 gtggctttgc attcagtaag gggaccatca gtcccattac tagtttggaa atgatttgga
     1561 gatacagatt ggcatagaag aatgtaaaga atcattaaag gaagcagggc ctaggagaca
     1621 cgtgaaacaa tgacattatc cagagtcaga tgaggctgca gtccagggtt gaaattatca
     1681 cagaataagg attctgggca aggttactgc attccggatc tctgtggggc tcttcaccaa
     1741 tttttccagc ctcatttata gtaaacaaat tgttctaatc catttactgc agatttcacc
     1801 cttataagtt tagaggtcat gaaggtttta atgatcagta aagatttaag ggttgagatt
     1861 tttaagaggc aagagctgaa agcagaagac atgatcatta gccataagaa actcaaagga
     1921 ggaagacata attagggaaa gaagtctatt tgatgaatat gtgtgtgtaa ggtatgttct
     1981 gctttcttga ttcaaaaatg aagcaggcat tgtctagctc ttaggtgaag ggagtctctg
     2041 cttttgaaga atggcacagg taggacagaa gtatcatccc taccccctaa ctaatctgtt
     2101 attaaagcta caaattcttc acacca
//
