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Aliases & Descriptions for HAMP
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for HAMP genePrevious GC identifers: GC19P036390 GC19P036222 GC19P040447 |
Summaries for HAMP(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, P81172Function: 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.aeruginosaGene Wiki entry for HAMP |
Genomic Location 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: 19q13.1HAMP 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
| Proteins for HAMP
(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)
About This Section
| 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 Q9BY68REFSEQ proteins: NP_066998.1
ENSEMBL proteins: ENSP00000222304
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for HAMP: Assays for HAMP: | Protein
Domains/ Families for HAMP(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P81172Similarity: Belongs to the hepcidin family | Gene Function for HAMP
(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.)
About This Section
|               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 
              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, P81172Function: 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.aeruginosa4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Hamp):
1 Gene Ontology (GO) molecular function term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005179 | hormone activity |
IEA | -- | About this table | Pathways & Interactions for HAMP
(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.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for HAMP (Your Favorite Gene powered by Ingenuity) 
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
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for HAMP(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 Tocris compounds for HAMP 3 Novoseek chemical compound relationships for HAMP gene
About this table
|
Transcripts for HAMP(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
|               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
|
Expression for HAMP
(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 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, P81172Tissue 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 for HAMP
(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
About this table Species with no ortholog for HAMP
ENSEMBL Gene Tree for HAMP | Paralogs for HAMP(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for HAMP(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for HAMP (up to first 250kb)
|
Disorders & Mutations for HAMP
(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 iron7 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)
|
Medical News for HAMP(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for HAMP (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
):- HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. (PubMed id 14670915)1, 3, 4, 6 Jacolot S.... Ferec C. (2004)
- LEAP-1, a novel highly disulfide-bonded human peptide exhibits antimicrobial activity. (PubMed id 11034317)2, 3, 4 Krause A.... Adermann K. (2000)
- Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. (PubMed id 12915468)1, 3, 4 Merryweather-Clarke A.T....Robson K.J. (2003)
- The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis. (PubMed id 12138110)1, 3, 4 Hunter H.N.... Vogel H.J. (2002)
- A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. (PubMed id 11113132)1, 2, 3 Pigeon C....Loreal O. (2001)
- Hepcidin: a urinary antimicrobial peptide synthesized in the liver. (PubMed id 11113131)1, 3, 4 Park C.H.... Ganz T. (2001)
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)3, 4 Grimwood J.... Lucas S.M. (2004)
- Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). (PubMed id 14630809)3, 4 Roetto A.... Camaschella C. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)3, 4 Clark H.F....Gray A. (2003)
|
Search for HAMP
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HAMP
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing HAMP
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HAMP(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=HAMP | | Wikipedia | http://en.wikipedia.org/wiki/Hepcidin |
|
| | | About This Section
| --
| Services for HAMP(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:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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