Human Gene HAMP (ENST00000222304.5) from GENCODE V44
Description: Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA. (from RefSeq NM_021175) RefSeq Summary (NM_021175): 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]. Gencode Transcript: ENST00000222304.5 Gencode Gene: ENSG00000105697.9 Transcript (Including UTRs) Position: hg38 chr19:35,282,528-35,285,143 Size: 2,616 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr19:35,282,578-35,285,042 Size: 2,465 Coding Exon Count: 3
ID:HEPC_HUMAN DESCRIPTION: RecName: Full=Hepcidin; AltName: Full=Liver-expressed antimicrobial peptide 1; Short=LEAP-1; AltName: Full=Putative liver tumor regressor; Short=PLTR; Contains: RecName: Full=Hepcidin-25; Short=Hepc25; Contains: RecName: Full=Hepcidin-20; Short=Hepc20; Flags: Precursor; FUNCTION: 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.aeruginosa. SUBCELLULAR LOCATION: Secreted. 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. MASS SPECTROMETRY: Mass=2789.8; Method=MALDI; Range=60-84; Source=PubMed:11034317; DISEASE: Defects in HAMP are the cause of hemochromatosis type 2B (HFE2B) [MIM:613313]; also known as juvenile hemochromatosis (JH). HFE2B is a disorder of iron metabolism with excess deposition of iron in the tissues, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of hemochromatosis type 2 at presentation are hypogonadism and cardiomyopathy. SIMILARITY: Belongs to the hepcidin family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HAMP"; WEB RESOURCE: Name=Wikipedia; Note=Hepcidin entry; URL="http://en.wikipedia.org/wiki/Hepcidin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P81172
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0002092 positive regulation of receptor internalization GO:0006879 cellular iron ion homeostasis GO:0006953 acute-phase response GO:0006955 immune response GO:0007568 aging GO:0010039 response to iron ion GO:0010043 response to zinc ion GO:0010469 regulation of receptor activity GO:0031640 killing of cells of other organism GO:0032413 negative regulation of ion transmembrane transporter activity GO:0033189 response to vitamin A GO:0034760 negative regulation of iron ion transmembrane transport GO:0036017 response to erythropoietin GO:0042742 defense response to bacterium GO:0045471 response to ethanol GO:0050829 defense response to Gram-negative bacterium GO:0050830 defense response to Gram-positive bacterium GO:0050832 defense response to fungus 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:1902916 positive regulation of protein polyubiquitination GO:1903413 cellular response to bile acid GO:1904039 negative regulation of ferrous iron export GO:1904255 negative regulation of iron channel activity GO:1904479 negative regulation of intestinal absorption GO:1990641 response to iron ion starvation GO:2000646 positive regulation of receptor catabolic process
AF309489 - Homo sapiens prohepcidin (HEPC) mRNA, complete cds. AK096110 - Homo sapiens cDNA FLJ38791 fis, clone LIVER2003008. BC020612 - Homo sapiens hepcidin antimicrobial peptide, mRNA (cDNA clone MGC:22220 IMAGE:4715540), complete cds. AF131292 - Homo sapiens putative liver tumor regressor (PLTR) mRNA, complete cds. AY358669 - Homo sapiens clone DNA58846 LEAP-1 (UNQ487) mRNA, complete cds. AJ277280 - Homo sapiens mRNA for liver-expressed antimicrobial peptide (leap-1 gene). JD063827 - Sequence 44851 from Patent EP1572962. HZ504212 - WO 2016027469-A/1: Hepcidin mRNA spricing variant and a method for diagnosing a cancer using the same. HZ504213 - WO 2016027469-A/2: Hepcidin mRNA spricing variant and a method for diagnosing a cancer using the same. JD347582 - Sequence 328606 from Patent EP1572962. AF147355 - Homo sapiens full length insert cDNA clone YB44E08. JD389383 - Sequence 370407 from Patent EP1572962. JD200217 - Sequence 181241 from Patent EP1572962.
US Server
