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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.12
Chromosome location (bp)
35280716 - 35285143
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin/SLC40A1, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma 1,2,3. 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 4....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Antibiotic, Antimicrobial, Fungicide, Hormone
Gene summary (Entrez)i
Useful information about the gene from 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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Transporters Accessory Factors Involved in Transport MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of ion transport and metabolism Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0002262[myeloid cell homeostasis] GO:0005179[hormone activity] GO:0005507[copper ion binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0006366[transcription by RNA polymerase II] GO:0006879[cellular iron ion homeostasis] GO:0006953[acute-phase response] GO:0006954[inflammatory response] GO:0006955[immune response] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007568[aging] GO:0010039[response to iron ion] GO:0010043[response to zinc ion] GO:0014704[intercalated disc] GO:0030163[protein catabolic process] GO:0031640[killing of cells of another organism] GO:0033189[response to vitamin A] GO:0034755[iron ion transmembrane transport] GO:0034760[negative regulation of iron ion transmembrane transport] GO:0036017[response to erythropoietin] GO:0042116[macrophage activation] GO:0042742[defense response to bacterium] GO:0043032[positive regulation of macrophage activation] GO:0045179[apical cortex] GO:0045471[response to ethanol] GO:0045732[positive regulation of protein catabolic process] GO:0045779[negative regulation of bone resorption] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050728[negative regulation of inflammatory response] GO:0050832[defense response to fungus] GO:0051649[establishment of localization in cell] GO:0055072[iron ion homeostasis] GO:0060586[multicellular organismal iron ion homeostasis] GO:0061051[positive regulation of cell growth involved in cardiac muscle cell development] GO:0071222[cellular response to lipopolysaccharide] GO:0071354[cellular response to interleukin-6] GO:0071356[cellular response to tumor necrosis factor] GO:0071481[cellular response to X-ray] GO:0097421[liver regeneration] GO:1903413[cellular response to bile acid] GO:1904479[negative regulation of intestinal absorption] GO:1990641[response to iron ion starvation]
Transporters Accessory Factors Involved in Transport MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of ion transport and metabolism Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0005179[hormone activity] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006879[cellular iron ion homeostasis] GO:0006955[immune response] GO:0010039[response to iron ion] GO:0031640[killing of cells of another organism] GO:0034760[negative regulation of iron ion transmembrane transport] GO:0042742[defense response to bacterium] GO:0050832[defense response to fungus] GO:0060586[multicellular organismal iron ion homeostasis] GO:1904479[negative regulation of intestinal absorption]
The Human Protein Atlas project is funded
