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HAMP Gene

protein-coding   GIFtS: 57

GC19P040465
hepcidin antimicrobial peptide
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
HEPC 1, 2, 3, 5
HEPCIDIN 2
HFE2 5
HFE2B 1, 2
LEAP-1 1, 2, 3
LEAP1 1, 2, 3, 5
PLTR 2, 3
Descriptions
Liver-expressed antimicrobial peptide 2, 3
Putative liver tumor regressor 2, 3
hepcidin antimicrobial peptide 2
External Ids
HGNC: 155981
Entrez Gene: 578172
UniProtKB: P811723
Ensembl: ENSG000001056977
Search outside databases for aliases for HAMP gene

Previous GC identifers: GC19P036390 GC19P036222 GC19P040447

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for HAMP:
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. 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]

UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172
Function: Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against
S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans.
No activity against P.aeruginosa

Gene Wiki entry for HAMP

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HAMP gene  

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.1

HAMP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P040465:     (about GC identifiers)

Start:
40,465,250 bp from pter
End:
40,467,886 bp from pter
Size:
2,637 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000019.8  NT_011109.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172 (See protein sequence)
Recommended Name: Hepcidin precursor  
Size: 84 amino acids; 9408 Da
Subcellular location: Secreted
Mass spectrometry: Mass=2789.8; Method=MALDI; Range=60-84; Source=PubMed:11034317;
PDB structure from and Proteopedia :
1M4E (3D)    1M4F (3D)    
Secondary accessions: Q1HE14 Q9BY68

REFSEQ proteins: NP_066998.1  

ENSEMBL proteins: 
ENSP00000222304 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Hepcidin-25)
Human Recombinant Proteins from Abnova (HAMP)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005576 extracellular region NAS11034317
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Antibodies for HAMP: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for HAMP
Browse R&D Systems for Antibodies
Antibodies from Abcam (Hepcidin-25), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (HAMP)
Novus Biologicals Antibodies for HAMP

Assays for HAMP: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR010500 Hepcidin


   GeneDecks  HAMP for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P81172

ProtoNet protein and cluster: P81172

1 Blocks protein family: IPB010500 Hepcidin

UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172
Similarity: Belongs to the hepcidin family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HAMP)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HAMP)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021175

              Applied Biosystems Silencer® siRNAs for HAMP

              Sigma-Aldrich siRNA for HAMP  
                     Sigma-Aldrich shRNA for HAMP  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for HAMP
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_021175
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_021175
                                 untagged cDNA clone in CMV expression vector: NM_021175 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_021175

UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172
Function: Seems to act as a signaling molecule involved in the maintenance of iron homeostasis.
Seems to be required in conjunction with HFE to regulate both intestinal iron absorption and iron
storage in macrophages (By similarity)
Function: Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against
S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans.
No activity against P.aeruginosa

4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hamp):

growth/sizehematopoietic systemhomeostasis/metabolismimmune system

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005179 hormone activity IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  HAMP  (Your Favorite Gene powered by Ingenuity) 
 Acute Phase Response Signaling

   GeneDecks  HAMP for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  HAMP 


5/39 Interacting proteins for HAMP (ENSP000002223043) via UniProtKB, MINT, and/or STRING (see all 39 )
InteractantInteraction Details
GeneCardExternal ID(s)
SLC40A1ENSP000002610243STRING (score=.997)
HFEENSP000003116983STRING (score=.993)
HFE2ENSP000003370143STRING (score=.993)
TFENSP000002649983STRING (score=.993)
TFR2ENSP000002230513STRING (score=.992)
About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006805 xenobiotic metabolic process IEA--
GO:0006879 cellular iron ion homeostasis IEA--
GO:0006955 immune response TAS11113131
GO:0042742 defense response to bacterium IEA--
GO:0050832 defense response to fungus IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HAMP
3 Novoseek chemical compound relationships for HAMP gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
iron 82.92 119 16103673 (6), 16629180 (4), 12606179 (4), 15725899 (4) (see all 53)
oxygen 0.00 1 16460831 (1)
ethanol 0.00 1 16737972 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HAMP)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HAMP)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021175

              Sigma-Aldrich siRNA for HAMP  
                     Sigma-Aldrich shRNA for HAMP  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_021175  

REFSEQ mRNAs for HAMP gene: 

NM_021175.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_021175  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_021175
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_021175
                                 untagged cDNA clone in CMV expression vector: NM_021175 

Additional cDNA sequence: 

AF131292.1 AF147355.1 AF309489.1 AJ277280.1 AY358669.1 BC020612.1 

3 DOTS entries:

DT.104663  DT.100018766  DT.100018767 

20 AceView cDNA sequences:

AJ277280 AF309489 AF147355 AI797446 BM719679 AY358669 BC020612 BM684049 
NM_021175 BX089371 T48277 T48278 AK096110 AF131292 CB116625 BG562482 
AI937227 AI829866 BU587812 BP346863 

highest scoring ESTs for HAMP:

AI937227 AF131292 AF309489 AI797446 AI829866 AJ277280 AY358669 BC020612 BG562482 BG568102 

Unigene Cluster for HAMP:

Hepcidin antimicrobial peptide
Hs.8821  [show with all ESTs]
Unigene Representative Sequence: DR004094


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000222304  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HAMP expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for HAMP

1 / 2 / 3

3 probe-sets matching HAMP gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
56641_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 AI937227 1.00 1.00 1.00 1

220491_at2, 3 U133-A 1 1.00 1.00 -- -- NM_021175 0.60 1.00 0.82 1

220491_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  HAMP for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TTCCAGAGGC

SOURCE GeneReport for Unigene cluster: Hs.8821

UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172
Tissue specificity: Highest expression in liver and to a lesser extent in heart and brain. Low
levels in lung, tonsils, salivary gland, trachea, prostate gland, adrenal gland and thyroid gland.
Secreted into the urine

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for HAMP gene from 4 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
HAMP1   -- hepcidin antimicrobial peptide 80.32(n)
71.08(a)
492281  NM_001007140.1  NP_001007141.1 
chimpanzee
(Pan troglodytes)
HAMP1   -- hepcidin antimicrobial peptide 99.6(n)
98.81(a)
744861  XM_001158692.1  XP_001158692.1 
cow
(Bos taurus)
HAMP1   -- hepcidin antimicrobial peptide 78.05(n)
70.73(a)
512301  XM_589792.3  XP_589792.2 
mouse
(Mus musculus)
Hamp5 7 (11.00 cM) hepcidin antimicrobial peptide   -- BC021587 
About this table        Species with no ortholog for HAMP

ENSEMBL Gene Tree for HAMP
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/18 NCBI SNPs in HAMP are shown (see all 18 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 35)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 19 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs104217681,2
A,C,F,H40464739(+) ACACCA/GCGTGC 1 -- ng51 tfbs38Minor allele frequency- G:0.08EU EA WA 832
rs104148461,2
A,C,F,H40464311(+) ATGTAC/TTCATC 1 -- ng518Minor allele frequency- T:0.08EU EA WA 838
rs38176231,2
F,H40464986(+) AGGGGG/TAACTT 1 -- ng51 trp35Minor allele frequency- T:0.03EA EU WA 1918
--
rs18826951,2
A,C40463357(+) ACACAA/GTCACG 1 -- ng51 tfbs30--------
rs72514321,2
A,C,F,H40467281(+) catccA/Gggcag 1 -- int17Minor allele frequency- G:0.35EU EA WA NA 560
rs81016061,2
C,F,H40466396(+) GGACAA/Cgccag 1 -- int112Minor allele frequency- C:0.08EU EA WA NA 1190
rs22936891,2
C,F,H40467466(+) GTTGCC/TGGGAG 1 -- int18Minor allele frequency- T:0.10EA NA EU WA 2014
--
rs104095031,2
A,C40466666(+) ccgagC/Tagctg 1 -- int10--------
rs126088681,2
H40465937(+) GACAGT/CGGGGA 1 -- int14Minor allele frequency- C:0.00EU EA WA 418
--
rs104167951,2
H40467105(+) atcgcT/Ctgagc 1 -- int14Minor allele frequency- C:0.00EU EA WA 410
About this table

HapMap Linkage Disequilibrium images for HAMP (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 606464   disorders: 602390  602390  

UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172

  • Defects in HAMP are the cause of hemochromatosis type 2B (HFE2B) [MIM:602390]; 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. It is the consequence of intestinal iron
    hyperabsorption associated with macrophages that do not load iron
  • 7 Novoseek disease relationships for HAMP gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemochromatosis, juvenile 94.34 14 15099344 (1), 16234038 (1), 16493621 (1), 18762941 (1) (see all 13)
    iron overload 91.23 22 12915468 (2), 12183449 (2), 16103673 (2), 18809758 (2) (see all 15)
    hemochromatosis 87.36 25 16103673 (4), 16234038 (1), 15198949 (1), 15701302 (1) (see all 10)
    hereditary hemochromatosis 84.81 5 15024747 (2), 14670915 (1), 16103673 (1), 17373275 (1)
    anemia 51.99 4 16838333 (2), 18544472 (1), 17218383 (1)
    response acute phase 34.00 2 15725899 (1), 15973703 (1)
    inflammation 30.24 4 18775801 (1), 15315977 (1), 17218383 (1), 18936232 (1)
    About this table

    GeneTests: HAMP
    Juvenile Hemochromatosis

    Human Gene Mutation Database: HAMP
    Genetic Association Database: HAMP
    Human Genome Epidemiology Navigator: HAMP (9 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/178 PubMed articles for HAMP gene (see all 178 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 57817 HGNC: 15598 AceView: HAMP Ensembl:ENSG00000105697 euGenes: HUgn57817
    ECgene: HAMP H-InvDB: HAMP
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=HAMP
    Wikipedia http://en.wikipedia.org/wiki/Hepcidin
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for HAMP:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for HAMP Antibodies for HAMP
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for HAMP Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search for Antibodies & Assays

     Recombinant Proteins
    (Hepcidin-25)
     Antibodies (Hepcidin-25)
     Search OriGene for HAMP
     Search Tocris compounds for HAMP




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for HAMP

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