Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 57817
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol HAMP   Gene   UCSC   Ensembl
Aliases HEPC, HFE2B, LEAP1, PLTR
Gene name hepcidin antimicrobial peptide
Alternate names hepcidin, liver-expressed antimicrobial peptide 1, putative liver tumor regressor,
Gene location 19q13.12 (35282345: 35285142)     Exons: 3     NC_000019.10
Gene summary(Entrez) 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]
OMIM 606464

Protein Summary

Protein general information P81172  

Name: Hepcidin (Liver expressed antimicrobial peptide 1) (LEAP 1) (Putative liver tumor regressor) (PLTR) [Cleaved into: Hepcidin 25 (Hepc25); Hepcidin 20 (Hepc20)]

Length: 84  Mass: 9,408

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. {ECO

Sequence MALSSQIWAACLLLLLLLASLTSGSVFPQQTGQLAELQPQDRAGARASWMPMFQRRRRRDTHFPICIFCCGCCHR
SKCGMCCKT
Structural information
Interpro:  IPR010500

Pfam:  
PF06446

PDB:  
1M4E 1M4F 2KEF 3H0T 4QAE
PDBsum:   1M4E 1M4F 2KEF 3H0T 4QAE
STRING:   ENSP00000222304;
Other Databases GeneCards:  HAMP;  Malacards:  HAMP

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0002092 positive regulation of re
ceptor internalization
IDA biological_process
GO:0005102 receptor binding
IPI molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005179 hormone activity
IEA molecular_function
GO:0005179 hormone activity
IDA molecular_function
GO:0005179 hormone activity
IDA molecular_function
GO:0005576 extracellular region
NAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005623 cell
IEA cellular_component
GO:0006879 cellular iron ion homeost
asis
IDA biological_process
GO:0006879 cellular iron ion homeost
asis
IDA biological_process
GO:0006955 immune response
TAS biological_process
GO:0010039 response to iron ion
IMP biological_process
GO:0031640 killing of cells of other
organism
IEA biological_process
GO:0032413 negative regulation of io
n transmembrane transport
er activity
IDA biological_process
GO:0042742 defense response to bacte
rium
IBA biological_process
GO:0045179 apical cortex
IEA cellular_component
GO:0050832 defense response to fungu
s
IEA biological_process
GO:0060586 multicellular organismal
iron ion homeostasis
IMP biological_process
GO:0097690 iron channel inhibitor ac
tivity
IDA molecular_function
GO:1902916 positive regulation of pr
otein polyubiquitination
IDA biological_process
GO:1904039 negative regulation of fe
rrous iron export
IDA biological_process
GO:1904255 negative regulation of ir
on channel activity
IDA biological_process
GO:1904479 negative regulation of in
testinal absorption
IMP biological_process
GO:2000646 positive regulation of re
ceptor catabolic process
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0002092 positive regulation of re
ceptor internalization
IDA biological_process
GO:0005102 receptor binding
IPI molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005179 hormone activity
IEA molecular_function
GO:0005179 hormone activity
IDA molecular_function
GO:0005179 hormone activity
IDA molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
NAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005623 cell
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0006879 cellular iron ion homeost
asis
IEA biological_process
GO:0006879 cellular iron ion homeost
asis
IEA biological_process
GO:0006879 cellular iron ion homeost
asis
IDA biological_process
GO:0006879 cellular iron ion homeost
asis
IDA biological_process
GO:0006955 immune response
TAS biological_process
GO:0010039 response to iron ion
IMP biological_process
GO:0031640 killing of cells of other
organism
IEA biological_process
GO:0032413 negative regulation of io
n transmembrane transport
er activity
IDA biological_process
GO:0042742 defense response to bacte
rium
IBA biological_process
GO:0042742 defense response to bacte
rium
IEA biological_process
GO:0045179 apical cortex
IEA cellular_component
GO:0050832 defense response to fungu
s
IEA biological_process
GO:0060586 multicellular organismal
iron ion homeostasis
IMP biological_process
GO:0097690 iron channel inhibitor ac
tivity
IDA molecular_function
GO:1902916 positive regulation of pr
otein polyubiquitination
IDA biological_process
GO:1904039 negative regulation of fe
rrous iron export
IDA biological_process
GO:1904255 negative regulation of ir
on channel activity
IDA biological_process
GO:1904479 negative regulation of in
testinal absorption
IMP biological_process
GO:2000646 positive regulation of re
ceptor catabolic process
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0002092 positive regulation of re
ceptor internalization
IDA biological_process
GO:0005102 receptor binding
IPI molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005179 hormone activity
IDA molecular_function
GO:0005179 hormone activity
IDA molecular_function
GO:0005576 extracellular region
NAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0006879 cellular iron ion homeost
asis
IDA biological_process
GO:0006879 cellular iron ion homeost
asis
IDA biological_process
GO:0006955 immune response
TAS biological_process
GO:0010039 response to iron ion
IMP biological_process
GO:0032413 negative regulation of io
n transmembrane transport
er activity
IDA biological_process
GO:0042742 defense response to bacte
rium
IBA biological_process
GO:0060586 multicellular organismal
iron ion homeostasis
IMP biological_process
GO:0097690 iron channel inhibitor ac
tivity
IDA molecular_function
GO:1902916 positive regulation of pr
otein polyubiquitination
IDA biological_process
GO:1904039 negative regulation of fe
rrous iron export
IDA biological_process
GO:1904255 negative regulation of ir
on channel activity
IDA biological_process
GO:1904479 negative regulation of in
testinal absorption
IMP biological_process
GO:2000646 positive regulation of re
ceptor catabolic process
IDA biological_process

Diseases

Associated diseases References
Endometriosis PMID: 26137768
Hemochromatosis PMID: 17847004, OMIM: 606464, KEGG: H00211
Endometriosis INFBASE26137768

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26137768 Endometrio
sis

53 (women with
endometriosis (
EM), a control
group)
Female infertility
Show abstract