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P81172

- HEPC_HUMAN

UniProt

P81172 - HEPC_HUMAN

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Protein

Hepcidin

Gene

HAMP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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).1 Publication
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).2 Publications

GO - Biological processi

  1. cellular iron ion homeostasis Source: Ensembl
  2. defense response to bacterium Source: UniProtKB-KW
  3. defense response to fungus Source: UniProtKB-KW
  4. immune response Source: UniProtKB
  5. killing of cells of other organism Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Antibiotic, Antimicrobial, Fungicide, Hormone

Protein family/group databases

TCDBi8.A.37.1.2. the hepcidin (hepcidin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Hepcidin
Alternative name(s):
Liver-expressed antimicrobial peptide 1
Short name:
LEAP-1
Putative liver tumor regressor
Short name:
PLTR
Cleaved into the following 2 chains:
Hepcidin-25
Short name:
Hepc25
Hepcidin-20
Short name:
Hepc20
Gene namesi
Name:HAMP
Synonyms:HEPC, LEAP1
ORF Names:UNQ487/PRO1003
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:15598. HAMP.

Subcellular locationi

GO - Cellular componenti

  1. apical cortex Source: Ensembl
  2. extracellular region Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591R → G in HFE2B. 1 Publication
VAR_042512
Natural varianti70 – 701C → R in HFE2B. 1 Publication
VAR_042513
Natural varianti71 – 711G → D in HFE2B. 3 Publications
Corresponds to variant rs104894696 [ dbSNP | Ensembl ].
VAR_026648
Natural varianti78 – 781C → Y in HFE2B. 1 Publication
VAR_042514

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi613313. phenotype.
Orphaneti79230. Hemochromatosis type 2.
PharmGKBiPA29182.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Sequence AnalysisAdd
BLAST
Propeptidei25 – 5430PRO_0000013378Add
BLAST
Peptidei60 – 8425Hepcidin-25PRO_0000013379Add
BLAST
Peptidei65 – 8420Hepcidin-20PRO_0000013380Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi66 ↔ 821 Publication
Disulfide bondi69 ↔ 721 Publication
Disulfide bondi70 ↔ 781 Publication
Disulfide bondi73 ↔ 811 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond

Proteomic databases

PaxDbiP81172.
PRIDEiP81172.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiP81172.
CleanExiHS_HAMP.
ExpressionAtlasiP81172. baseline and differential.
GenevestigatoriP81172.

Interactioni

Protein-protein interaction databases

BioGridi121776. 2 interactions.
IntActiP81172. 2 interactions.
STRINGi9606.ENSP00000222304.

Structurei

Secondary structure

1
84
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi66 – 716Combined sources
Beta strandi76 – 827Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1M4ENMR-A65-84[»]
1M4FNMR-A60-84[»]
2KEFNMR-A60-84[»]
3H0TX-ray1.89C60-84[»]
ProteinModelPortaliP81172.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP81172.

Family & Domainsi

Sequence similaritiesi

Belongs to the hepcidin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG45549.
GeneTreeiENSGT00390000003154.
HOGENOMiHOG000008666.
HOVERGENiHBG003716.
InParanoidiP81172.
OMAiGARAGWT.
OrthoDBiEOG7N8ZZ3.
PhylomeDBiP81172.
TreeFamiTF330932.

Family and domain databases

InterProiIPR010500. Hepcidin.
[Graphical view]
PfamiPF06446. Hepcidin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P81172-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MALSSQIWAA CLLLLLLLAS LTSGSVFPQQ TGQLAELQPQ DRAGARASWM
60 70 80
PMFQRRRRRD THFPICIFCC GCCHRSKCGM CCKT
Length:84
Mass (Da):9,408
Last modified:December 1, 2000 - v2
Checksum:i5F8DCA23D19D29F7
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311T → M in AAK14912. 1 PublicationCurated

Mass spectrometryi

Molecular mass is 2789.8 Da from positions 60 - 84. Determined by MALDI. 1 Publication

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591R → G in HFE2B. 1 Publication
VAR_042512
Natural varianti70 – 701C → R in HFE2B. 1 Publication
VAR_042513
Natural varianti71 – 711G → D in HFE2B. 3 Publications
Corresponds to variant rs104894696 [ dbSNP | Ensembl ].
VAR_026648
Natural varianti78 – 781C → Y in HFE2B. 1 Publication
VAR_042514

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF309489 mRNA. Translation: AAG23966.1.
AJ277280 mRNA. Translation: CAC09419.1.
AF131292 mRNA. Translation: AAK14912.1.
AY358669 mRNA. Translation: AAQ89032.1.
DQ496109 Genomic DNA. Translation: ABF47098.1.
AD000684 Genomic DNA. No translation available.
BC020612 mRNA. Translation: AAH20612.1.
CCDSiCCDS12454.1.
RefSeqiNP_066998.1. NM_021175.2.
UniGeneiHs.8821.

Genome annotation databases

EnsembliENST00000222304; ENSP00000222304; ENSG00000105697.
ENST00000598398; ENSP00000471894; ENSG00000105697.
GeneIDi57817.
KEGGihsa:57817.
UCSCiuc002nyw.3. human.

Polymorphism databases

DMDMi10720397.

Cross-referencesi

Web resourcesi

Wikipedia

Hepcidin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF309489 mRNA. Translation: AAG23966.1 .
AJ277280 mRNA. Translation: CAC09419.1 .
AF131292 mRNA. Translation: AAK14912.1 .
AY358669 mRNA. Translation: AAQ89032.1 .
DQ496109 Genomic DNA. Translation: ABF47098.1 .
AD000684 Genomic DNA. No translation available.
BC020612 mRNA. Translation: AAH20612.1 .
CCDSi CCDS12454.1.
RefSeqi NP_066998.1. NM_021175.2.
UniGenei Hs.8821.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1M4E NMR - A 65-84 [» ]
1M4F NMR - A 60-84 [» ]
2KEF NMR - A 60-84 [» ]
3H0T X-ray 1.89 C 60-84 [» ]
ProteinModelPortali P81172.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121776. 2 interactions.
IntActi P81172. 2 interactions.
STRINGi 9606.ENSP00000222304.

Protein family/group databases

TCDBi 8.A.37.1.2. the hepcidin (hepcidin) family.

Polymorphism databases

DMDMi 10720397.

Proteomic databases

PaxDbi P81172.
PRIDEi P81172.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000222304 ; ENSP00000222304 ; ENSG00000105697 .
ENST00000598398 ; ENSP00000471894 ; ENSG00000105697 .
GeneIDi 57817.
KEGGi hsa:57817.
UCSCi uc002nyw.3. human.

Organism-specific databases

CTDi 57817.
GeneCardsi GC19P035955.
GeneReviewsi HAMP.
HGNCi HGNC:15598. HAMP.
MIMi 606464. gene.
613313. phenotype.
neXtProti NX_P81172.
Orphaneti 79230. Hemochromatosis type 2.
PharmGKBi PA29182.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG45549.
GeneTreei ENSGT00390000003154.
HOGENOMi HOG000008666.
HOVERGENi HBG003716.
InParanoidi P81172.
OMAi GARAGWT.
OrthoDBi EOG7N8ZZ3.
PhylomeDBi P81172.
TreeFami TF330932.

Miscellaneous databases

EvolutionaryTracei P81172.
GeneWikii HAMP.
GenomeRNAii 57817.
NextBioi 64762.
PROi P81172.
SOURCEi Search...

Gene expression databases

Bgeei P81172.
CleanExi HS_HAMP.
ExpressionAtlasi P81172. baseline and differential.
Genevestigatori P81172.

Family and domain databases

InterProi IPR010500. Hepcidin.
[Graphical view ]
Pfami PF06446. Hepcidin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Hepcidin: a urinary antimicrobial peptide synthesized in the liver."
    Park C.H., Valore E.V., Waring A.J., Ganz T.
    J. Biol. Chem. 276:7806-7810(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 60-84.
    Tissue: Liver and Urine.
  2. "LEAP-1, a novel highly disulfide-bonded human peptide exhibits antimicrobial activity."
    Krause A., Neitz S., Maegert H.-J., Schulz A., Forssmann W.-G., Schulz-Knappe P., Adermann K.
    FEBS Lett. 480:147-150(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 60-84, TISSUE SPECIFICITY, MASS SPECTROMETRY.
    Tissue: Blood and Liver.
  3. Jung J.-W., Shin W.-S., Yoon Y., Lee S.-T.
    Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. NHLBI resequencing and genotyping service (RS&G)
    Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Liver.
  8. "Chemical synthesis of beta-defensins and LEAP-1/hepcidin."
    Kluever E., Schulz A., Forssmann W.-G., Adermann K.
    J. Pept. Res. 59:241-248(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SYNTHESIS OF 60-84.
  9. Cited for: REVIEW.
  10. "The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis."
    Hunter H.N., Fulton D.B., Ganz T., Vogel H.J.
    J. Biol. Chem. 277:37597-37603(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 60-84, PRELIMINARY DISULFIDE BONDS.
  11. Cited for: X-RAY CRYSTALLOGRAPHY (1.89 ANGSTROMS) OF 60-84, DISULFIDE BONDS.
  12. "Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload."
    Biasiotto G., Belloli S., Ruggeri G., Zanella I., Gerardi G., Corrado M., Gobbi E., Albertini A., Arosio P.
    Clin. Chem. 49:1981-1988(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HFE2B ASP-71.
  13. Cited for: VARIANT HFE2B ASP-71.
  14. "Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)."
    Roetto A., Daraio F., Porporato P., Caruso R., Cox T.M., Cazzola M., Gasparini P., Piperno A., Camaschella C.
    Blood 103:2407-2409(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HFE2B ARG-70.
  15. "HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype."
    Jacolot S., Le Gac G., Scotet V., Quere I., Mura C., Ferec C.
    Blood 103:2835-2840(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HFE2B GLY-59 AND ASP-71.
  16. "A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis."
    Delatycki M.B., Allen K.J., Gow P., MacFarlane J., Radomski C., Thompson J., Hayden M.R., Goldberg Y.P., Samuels M.E.
    Clin. Genet. 65:378-383(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HFE2B TYR-78.

Entry informationi

Entry nameiHEPC_HUMAN
AccessioniPrimary (citable) accession number: P81172
Secondary accession number(s): Q1HE14, Q9BY68
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 1, 2000
Last modified: November 26, 2014
This is version 141 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3