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Protein

Hepcidin

Gene

HAMP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 - Molecular functioni

  • hormone activity Source: BHF-UCL
  • iron channel inhibitor activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Antibiotic, Antimicrobial, Fungicide, Hormone

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105697-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:15598. HAMP.

Subcellular locationi

GO - Cellular componenti

  • apical cortex Source: Ensembl
  • cell Source: GOC
  • extracellular region Source: UniProtKB
  • extracellular space Source: BHF-UCL
  • intercalated disc Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hemochromatosis 2B (HFE2B)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613313
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04251259R → G in HFE2B. 1 PublicationCorresponds to variant rs779021719dbSNPEnsembl.1
Natural variantiVAR_04251370C → R in HFE2B. 1 Publication1
Natural variantiVAR_02664871G → D in HFE2B. 3 PublicationsCorresponds to variant rs104894696dbSNPEnsembl.1
Natural variantiVAR_04251478C → Y in HFE2B. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi57817.
MalaCardsiHAMP.
MIMi613313. phenotype.
OpenTargetsiENSG00000105697.
Orphaneti79230. Hemochromatosis type 2.
PharmGKBiPA29182.

Polymorphism and mutation databases

BioMutaiHAMP.
DMDMi10720397.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
PropeptideiPRO_000001337825 – 54Add BLAST30
PeptideiPRO_000001337960 – 84Hepcidin-25Add BLAST25
PeptideiPRO_000001338065 – 84Hepcidin-20Add BLAST20

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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.
PeptideAtlasiP81172.
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

BgeeiENSG00000105697.
CleanExiHS_HAMP.
GenevisibleiP81172. HS.

Interactioni

GO - Molecular functioni

  • hormone activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi121776. 2 interactors.
IntActiP81172. 2 interactors.
STRINGi9606.ENSP00000222304.

Structurei

Secondary structure

184
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi66 – 71Combined sources6
Beta strandi76 – 82Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M4ENMR-A65-84[»]
1M4FNMR-A60-84[»]
2KEFNMR-A60-84[»]
3H0TX-ray1.89C60-84[»]
4QAEX-ray2.10P/Q/R/S/T/U60-84[»]
ProteinModelPortaliP81172.
SMRiP81172.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP81172.

Family & Domainsi

Sequence similaritiesi

Belongs to the hepcidin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J3JD. Eukaryota.
ENOG4111C2J. LUCA.
GeneTreeiENSGT00390000003154.
HOGENOMiHOG000008666.
HOVERGENiHBG003716.
InParanoidiP81172.
OMAiCGICCKT.
OrthoDBiEOG091G1A4A.
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)DescriptionActionsGraphical viewLength
Sequence conflicti31T → M in AAK14912 (Ref. 3) Curated1

Mass spectrometryi

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04251259R → G in HFE2B. 1 PublicationCorresponds to variant rs779021719dbSNPEnsembl.1
Natural variantiVAR_04251370C → R in HFE2B. 1 Publication1
Natural variantiVAR_02664871G → D in HFE2B. 3 PublicationsCorresponds to variant rs104894696dbSNPEnsembl.1
Natural variantiVAR_04251478C → Y in HFE2B. 1 Publication1

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_021175.3.
UniGeneiHs.8821.

Genome annotation databases

EnsembliENST00000222304; ENSP00000222304; ENSG00000105697.
ENST00000598398; ENSP00000471894; ENSG00000105697.
GeneIDi57817.
KEGGihsa:57817.
UCSCiuc002nyw.4. human.

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.
CCDSiCCDS12454.1.
RefSeqiNP_066998.1. NM_021175.3.
UniGeneiHs.8821.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M4ENMR-A65-84[»]
1M4FNMR-A60-84[»]
2KEFNMR-A60-84[»]
3H0TX-ray1.89C60-84[»]
4QAEX-ray2.10P/Q/R/S/T/U60-84[»]
ProteinModelPortaliP81172.
SMRiP81172.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121776. 2 interactors.
IntActiP81172. 2 interactors.
STRINGi9606.ENSP00000222304.

Protein family/group databases

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

Polymorphism and mutation databases

BioMutaiHAMP.
DMDMi10720397.

Proteomic databases

PaxDbiP81172.
PeptideAtlasiP81172.
PRIDEiP81172.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222304; ENSP00000222304; ENSG00000105697.
ENST00000598398; ENSP00000471894; ENSG00000105697.
GeneIDi57817.
KEGGihsa:57817.
UCSCiuc002nyw.4. human.

Organism-specific databases

CTDi57817.
DisGeNETi57817.
GeneCardsiHAMP.
GeneReviewsiHAMP.
HGNCiHGNC:15598. HAMP.
MalaCardsiHAMP.
MIMi606464. gene.
613313. phenotype.
neXtProtiNX_P81172.
OpenTargetsiENSG00000105697.
Orphaneti79230. Hemochromatosis type 2.
PharmGKBiPA29182.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J3JD. Eukaryota.
ENOG4111C2J. LUCA.
GeneTreeiENSGT00390000003154.
HOGENOMiHOG000008666.
HOVERGENiHBG003716.
InParanoidiP81172.
OMAiCGICCKT.
OrthoDBiEOG091G1A4A.
PhylomeDBiP81172.
TreeFamiTF330932.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105697-MONOMER.

Miscellaneous databases

EvolutionaryTraceiP81172.
GeneWikiiHAMP.
GenomeRNAii57817.
PROiP81172.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105697.
CleanExiHS_HAMP.
GenevisibleiP81172. HS.

Family and domain databases

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

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 2, 2016
This is version 157 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.