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Aliases for HAMP Gene

Subcategory (RNA class) for HAMP Gene

lncRNA

Aliases for HAMP Gene

  • Hepcidin Antimicrobial Peptide 2 3
  • LEAP1 3 4 6
  • HEPC 3 4 6
  • Liver-Expressed Antimicrobial Peptide 1 3 4
  • Putative Liver Tumor Regressor 3 4
  • HFE2B 3 6
  • PLTR 3 4
  • Hepcidin 3
  • LEAP-1 4

External Ids for HAMP Gene

ORGUL Members for HAMP Gene

Summaries for HAMP Gene

Entrez Gene Summary for HAMP Gene

  • 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]

GeneCards Summary for HAMP Gene

HAMP (Hepcidin Antimicrobial Peptide) is a Protein Coding gene, and belongs to the lncRNA class. Diseases associated with HAMP include hemochromatosis, type 2b and hamp-related juvenile hemochromatosis. Among its related pathways are Iron metabolism in placenta. GO annotations related to this gene include hormone activity.

UniProtKB/Swiss-Prot for HAMP Gene

  • Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005).

  • 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 (PubMed:11113131, PubMed:11034317).

Gene Wiki entry for HAMP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAMP Gene

Genomics for HAMP Gene

Genomic Location for HAMP Gene

Start:
35,280,716 bp from pter
End:
35,285,143 bp from pter
Size:
4,428 bases
Orientation:
Plus strand

Genomic View for HAMP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HAMP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAMP Gene

Regulatory Elements for HAMP Gene

ORGUL Member Location for HAMP Gene

ORGUL Member Location for HAMP gene

Proteins for HAMP Gene

  • Protein details for HAMP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P81172-HEPC_HUMAN
    Recommended name:
    Hepcidin
    Protein Accession:
    P81172
    Secondary Accessions:
    • Q1HE14
    • Q9BY68

    Protein attributes for HAMP Gene

    Size:
    84 amino acids
    Molecular mass:
    9408 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HAMP Gene

neXtProt entry for HAMP Gene

Proteomics data for HAMP Gene at MOPED

Post-translational modifications for HAMP Gene

No Post-translational modifications

Other Protein References for HAMP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HAMP Gene

Domains for HAMP Gene

Protein Domains for HAMP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HAMP Gene

Graphical View of Domain Structure for InterPro Entry

P81172

UniProtKB/Swiss-Prot:

HEPC_HUMAN
Family:
  • Belongs to the hepcidin family.:
    • P81172
genes like me logo Genes that share domains with HAMP: view

No data available for Gene Families for HAMP Gene

Function for HAMP Gene

Molecular function for HAMP Gene

UniProtKB/Swiss-Prot Function: Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005).
UniProtKB/Swiss-Prot 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 (PubMed:11113131, PubMed:11034317).

Gene Ontology (GO) - Molecular Function for HAMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 15514116
GO:0005179 hormone activity IEA --
GO:0008200 ion channel inhibitor activity IDA 15514116
genes like me logo Genes that share ontologies with HAMP: view
genes like me logo Genes that share phenotypes with HAMP: view

Animal Models for HAMP Gene

MGI Knock Outs for HAMP:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for HAMP Gene

Localization for HAMP Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAMP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAMP Gene COMPARTMENTS Subcellular localization image for HAMP gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 1
endosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HAMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 11034317
GO:0005737 cytoplasm --
GO:0045179 apical cortex IEA --
genes like me logo Genes that share ontologies with HAMP: view

Pathways for HAMP Gene

SuperPathways for HAMP Gene

Superpath Contained pathways
1 Iron metabolism in placenta
genes like me logo Genes that share pathways with HAMP: view

Pathways by source for HAMP Gene

1 BioSystems pathway for HAMP Gene

Interacting Proteins for HAMP Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000222304%0d%0a9606.ENSP00000261024%0d%0a9606.ENSP00000378426%0d%0a9606.ENSP00000367265%0d%0a
Selected Interacting proteins: ENSP00000222304 P81172-HEPC_HUMAN for HAMP Gene via STRING I2D

Gene Ontology (GO) - Biological Process for HAMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis IDA 15514116
GO:0006955 immune response TAS 11113131
GO:0031640 killing of cells of other organism IEA --
GO:0032413 negative regulation of ion transmembrane transporter activity IDA 15514116
GO:0042742 defense response to bacterium IEA --
genes like me logo Genes that share ontologies with HAMP: view

Compounds for HAMP Gene

(1) HMDB Compounds for HAMP Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6

(5) Novoseek inferred chemical compound relationships for HAMP Gene

Compound -log(P) Hits PubMed IDs
iron 84.2 96
anti-fungal 4.44 2
ethanol 0 1
oxygen 0 1
creatinine 0 1
genes like me logo Genes that share compounds with HAMP: view

Transcripts for HAMP Gene

mRNA/cDNA for HAMP Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HAMP Gene

Hepcidin antimicrobial peptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HAMP Gene

No ASD Table

Relevant External Links for HAMP Gene

GeneLoc Exon Structure for
HAMP
ECgene alternative splicing isoforms for
HAMP

Expression for HAMP Gene

mRNA expression in normal human tissues for HAMP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAMP Gene

This gene is overexpressed in Liver (35.4) and Heart - Atrial Appendage (9.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HAMP Gene

SOURCE GeneReport for Unigene cluster for HAMP Gene Hs.8821

mRNA Expression by UniProt/SwissProt for HAMP Gene

P81172-HEPC_HUMAN
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.
genes like me logo Genes that share expressions with HAMP: view

Orthologs for HAMP Gene

This gene was present in the common ancestor of mammals.

Orthologs for HAMP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAMP 35
  • 99.6 (n)
  • 98.81 (a)
HAMP 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HAMP 35
  • 76.02 (n)
  • 68.29 (a)
HAMP 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAMP 35
  • 77.78 (n)
  • 68.42 (a)
HAMP 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hamp 16
Hamp 36
  • 59 (a)
OneToMany
Hamp2 36
  • 52 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HAMP 36
  • 46 (a)
OneToOne
Species with no ortholog for HAMP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HAMP Gene

ENSEMBL:
Gene Tree for HAMP (if available)
TreeFam:
Gene Tree for HAMP (if available)

Paralogs for HAMP Gene

No data available for Paralogs for HAMP Gene

Variants for HAMP Gene

Sequence variations from dbSNP and Humsavar for HAMP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1882695 -- 35,280,614(+) ACACA(A/G)TCACG upstream-variant-2KB
rs2293689 -- 35,284,723(+) GTTGC(C/T)GGGAG intron-variant
rs3817623 -- 35,282,243(+) AGGGG(G/T)AACTT upstream-variant-2KB
rs7251432 -- 35,284,538(+) catcc(A/G)ggcag intron-variant
rs8101606 -- 35,283,653(+) GGACA(A/C)gccag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HAMP Gene

Variant ID Type Subtype PubMed ID
nsv510765 CNV Loss 20534489
dgv1080e1 CNV Complex 17122850
nsv911618 CNV Loss 21882294
dgv3850n71 CNV Loss 21882294

Relevant External Links for HAMP Gene

HapMap Linkage Disequilibrium report
HAMP
Human Gene Mutation Database (HGMD)
HAMP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAMP Gene

Disorders for HAMP Gene

(1) OMIM Diseases for HAMP Gene (606464)

UniProtKB/Swiss-Prot

HEPC_HUMAN
  • Hemochromatosis 2B (HFE2B) [MIM:613313]: 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. {ECO:0000269 PubMed:12915468, ECO:0000269 PubMed:14630809, ECO:0000269 PubMed:14633868, ECO:0000269 PubMed:14670915, ECO:0000269 PubMed:15099344}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for HAMP Gene

Disease -log(P) Hits PubMed IDs
hemochromatosis, juvenile 93.8 14
iron overload 90.9 20
hemochromatosis 87.4 15
hereditary hemochromatosis 86.8 6
anemia 54.1 6

Relevant External Links for HAMP

GeneTests
HAMP
GeneReviews
HAMP
Genetic Association Database (GAD)
HAMP
Human Genome Epidemiology (HuGE) Navigator
HAMP
genes like me logo Genes that share disorders with HAMP: view

Publications for HAMP Gene

  1. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. (PMID: 14670915) Jacolot S. … Ferec C. (Blood 2004) 3 4 23 48
  2. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. (PMID: 12915468) Merryweather-Clarke A.T. … Robson K.J. (Hum. Mol. Genet. 2003) 3 4 23
  3. Hepcidin: a urinary antimicrobial peptide synthesized in the liver. (PMID: 11113131) Park C.H. … Ganz T. (J. Biol. Chem. 2001) 3 4 23
  4. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. (PMID: 11113132) Pigeon C. … LorAcal O. (J. Biol. Chem. 2001) 2 3 23
  5. The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis. (PMID: 12138110) Hunter H.N. … Vogel H.J. (J. Biol. Chem. 2002) 3 4 23

Products for HAMP Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cardiotoxicity in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate HAMP
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for HAMP
    • Block miRNA regulation of HAMP using miScript Target Protectors

    Sources for HAMP Gene

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