LOCUS       NM_021175                406 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.
ACCESSION   NM_021175
VERSION     NM_021175.4
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 406)
  AUTHORS   Dou,J., Chen,X., Zhang,J., Yang,L., Lin,J., Zhu,W., Huang,D. and
            Tan,X.
  TITLE     P. Gingivalis induce macrophage polarization by regulating hepcidin
            expression in chronic apical periodontitis
  JOURNAL   Int Immunopharmacol 142 (Pt A), 113139 (2024)
   PUBMED   39278061
  REMARK    GeneRIF: P. Gingivalis induce macrophage polarization by regulating
            hepcidin expression in chronic apical periodontitis.
REFERENCE   2  (bases 1 to 406)
  AUTHORS   Maltaneri,R.E., Chamorro,M.E., Gionco,S.E., Nesse,A.B. and
            Vittori,D.C.
  TITLE     Erythropoietin enhances iron bioavailability in HepG2 cells by
            downregulating hepcidin through mTOR, C/EBPalpha and HIF-1alpha
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (7), 119800 (2024)
   PUBMED   39047915
  REMARK    GeneRIF: Erythropoietin enhances iron bioavailability in HepG2
            cells by downregulating hepcidin through mTOR, C/EBPalpha and
            HIF-1alpha.
REFERENCE   3  (bases 1 to 406)
  AUTHORS   Appiah,S.K., Nkansah,C., Abbam,G., Osei-Boakye,F., Mensah,K.,
            Bani,S.B., Chemogo,S., Sarpong,L., Addae,T.G., Sefa,D.B.,
            Croffien,R.A., Adom,L., Rauf,R.O.A., Boadu,F., Amoah,G.A. and
            Chukwurah,E.F.
  TITLE     Molecular characterization of HAMP rs10421768 gene and phenotypic
            expression of hepcidin; a case-control study among sickle cell
            anaemia patients in Ghana
  JOURNAL   PLoS One 19 (6), e0306194 (2024)
   PUBMED   38935685
  REMARK    GeneRIF: Molecular characterization of HAMP rs10421768 gene and
            phenotypic expression of hepcidin; a case-control study among
            sickle cell anaemia patients in Ghana.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 406)
  AUTHORS   Alster,P., Otto-Slusarczyk,D., Wiercinska-Drapalo,A., Struga,M. and
            Madetko-Alster,N.
  TITLE     The potential significance of hepcidin evaluation in progressive
            supranuclear palsy
  JOURNAL   Brain Behav 14 (6), e3552 (2024)
   PUBMED   38953731
  REMARK    GeneRIF: The potential significance of hepcidin evaluation in
            progressive supranuclear palsy.
REFERENCE   5  (bases 1 to 406)
  AUTHORS   Kluver,E., Schulz,A., Forssmann,W.G. and Adermann,K.
  TITLE     Chemical synthesis of beta-defensins and LEAP-1/hepcidin
  JOURNAL   J Pept Res 59 (6), 241-248 (2002)
   PUBMED   12010514
REFERENCE   6  (bases 1 to 406)
  AUTHORS   Majore,S., Binni,F., Ricerca,B.M., Brioli,G. and Grammatico,P.
  TITLE     Absence of hepcidin gene mutations in 10 Italian patients with
            primary iron overload
  JOURNAL   Haematologica 87 (2), 221-222 (2002)
   PUBMED   11836175
  REMARK    GeneRIF: The sequencing of the whole hepcidin coding region,
            intron-exon junctions, 5' and partially 3'UTRs, did not reveal any
            alteration in the iron overload patients.
REFERENCE   7  (bases 1 to 406)
  AUTHORS   Pigeon,C., Ilyin,G., Courselaud,B., Leroyer,P., Turlin,B.,
            Brissot,P. and Loreal,O.
  TITLE     A new mouse liver-specific gene, encoding a protein homologous to
            human antimicrobial peptide hepcidin, is overexpressed during iron
            overload
  JOURNAL   J Biol Chem 276 (11), 7811-7819 (2001)
   PUBMED   11113132
REFERENCE   8  (bases 1 to 406)
  AUTHORS   Park,C.H., Valore,E.V., Waring,A.J. and Ganz,T.
  TITLE     Hepcidin, a urinary antimicrobial peptide synthesized in the liver
  JOURNAL   J Biol Chem 276 (11), 7806-7810 (2001)
   PUBMED   11113131
REFERENCE   9  (bases 1 to 406)
  AUTHORS   Krause,A., Neitz,S., Magert,H.J., Schulz,A., Forssmann,W.G.,
            Schulz-Knappe,P. and Adermann,K.
  TITLE     LEAP-1, a novel highly disulfide-bonded human peptide, exhibits
            antimicrobial activity
  JOURNAL   FEBS Lett 480 (2-3), 147-150 (2000)
   PUBMED   11034317
  REMARK    GeneRIF: A highly disulfide-bonded human antimicrobial protein,
            LEAP1, is reported.
REFERENCE   10 (bases 1 to 406)
  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 AF309489.1 and AY358669.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_021175.3.
            
            Summary: The product encoded by this gene is involved in the
            maintenance of iron homeostasis, and it is necessary for the
            regulation of iron storage in macrophages, and for intestinal iron
            absorption. The preproprotein is post-translationally cleaved into
            mature peptides of 20, 22 and 25 amino acids, and these active
            peptides are rich in cysteines, which form intramolecular bonds
            that stabilize their beta-sheet structures. These peptides exhibit
            antimicrobial activity against bacteria and fungi. Mutations in
            this gene cause hemochromatosis type 2B, also known as juvenile
            hemochromatosis, a disease caused by severe iron overload that
            results in cardiomyopathy, cirrhosis, and endocrine failure.
            [provided by RefSeq, Oct 2014].
            
            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 :: BC020612.1, BP346863.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000222304.5/
                                                  ENSP00000222304.2
            Protein has antimicrobial activity :: PMID: 11034317
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-405               AF309489.1         22-426
            406-406             AY358669.1         396-396
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..406
                     /gene="HAMP"
                     /gene_synonym="HEPC; HFE2B; LEAP1; PLTR"
                     /note="hepcidin antimicrobial peptide"
                     /db_xref="GeneID:57817"
                     /db_xref="HGNC:HGNC:15598"
                     /db_xref="MIM:606464"
     exon            1..140
                     /gene="HAMP"
                     /gene_synonym="HEPC; HFE2B; LEAP1; PLTR"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..305
                     /gene="HAMP"
                     /gene_synonym="HEPC; HFE2B; LEAP1; PLTR"
                     /note="putative liver tumor regressor; liver-expressed
                     antimicrobial peptide 1"
                     /codon_start=1
                     /product="hepcidin preproprotein"
                     /protein_id="NP_066998.1"
                     /db_xref="CCDS:CCDS12454.1"
                     /db_xref="GeneID:57817"
                     /db_xref="HGNC:HGNC:15598"
                     /db_xref="MIM:606464"
                     /translation="MALSSQIWAACLLLLLLLASLTSGSVFPQQTGQLAELQPQDRAG
                     ARASWMPMFQRRRRRDTHFPICIFCCGCCHRSKCGMCCKT"
     exon            141..200
                     /gene="HAMP"
                     /gene_synonym="HEPC; HFE2B; LEAP1; PLTR"
                     /inference="alignment:Splign:2.1.0"
     exon            201..406
                     /gene="HAMP"
                     /gene_synonym="HEPC; HFE2B; LEAP1; PLTR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      376..381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAMP"
                     /gene_synonym="HEPC; HFE2B; LEAP1; PLTR"
                     /note="hexamer: AATAAA"
     polyA_site      406
                     /gene="HAMP"
                     /gene_synonym="HEPC; HFE2B; LEAP1; PLTR"
                     /note="major polyA site"
ORIGIN      
        1 accagagcaa gctcaagacc cagcagtggg acagccagac agacggcacg atggcactga
       61 gctcccagat ctgggccgct tgcctcctgc tcctcctcct cctcgccagc ctgaccagtg
      121 gctctgtttt cccacaacag acgggacaac ttgcagagct gcaaccccag gacagagctg
      181 gagccagggc cagctggatg cccatgttcc agaggcgaag gaggcgagac acccacttcc
      241 ccatctgcat tttctgctgc ggctgctgtc atcgatcaaa gtgtgggatg tgctgcaaga
      301 cgtagaacct acctgccctg cccccgtccc ctcccttcct tatttattcc tgctgcccca
      361 gaacataggt cttggaataa aatggctggt tcttttgttt tccaaa
//
