Property Summary

NCBI Gene PubMed Count 77
Grant Count 77
R01 Count 47
Funding $6,715,225.54
PubMed Score 140.39
PubTator Score 97.54

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q6ZVN8 B1ALI7 Q2PQ63 Q6IMF6 Q8NAH2 Q8WVJ5
Symbols JH
HJV
RGMC
HFE2A

Gene

PDB

4UI1  

Gene RIF (63)

PMID Text
26405701 HJV levels are low in NAFLD and even lower in iron overloaded NAFLD.
25704252 Data show that transmembrane serine protease TMPRSS6 cleaves both the heterodimeric and the full-length mutant hemojuvelin (m-HJV).
25666510 The study demonstrates that the two upstream open reading frames (with 28 and 19 codons) present in the 5' UTR of the human HJV mRNA have the ability to significantly decrease translational efficiency under normal conditions.
25567873 suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with hemochromatosis
25152992 Case Reports: juvenile hemochromatosis associated with simple heterozygosity for novel HJV mutations and unknown genetic factors.
24635876 Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.
24356769 In dialysis patients, hemojuvelin levels are significantly increased but obesity does not have an additional impact.
23901875 Membrane bound hemojuvelin (HJV) is associated with decreasing total kidney iron, secreting hepcidin, and promoting the degradation of ferroportin during acute kidney injury, whereas soluble HJV does the opposite.
23375327 Hemojuvelin and hepcidin affect iron metabolism and are elevated in kidney and heart allograft recipients
22893705 neogenin forms a ternary complex with both MT2 and HJV at the plasma membrane. The complex facilitates HJV cleavage by MT2, and release of the cleaved HJV from the cell occurs after a retrograde trafficking through the TGN/Golgi compartments.
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AA Sequence

MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSGALRGGGGGGR      1 - 70
GGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPALPGAGS     71 - 140
GLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMAL    141 - 210
GANATATRKLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAY    211 - 280
IGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEG    281 - 350
LPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFV    351 - 420
LWLCIQ                                                                    421 - 426
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Text Mined References (77)

PMID Year Title
26405701 2015 The Relationship of Serum Hemojuvelin and Hepcidin Levels with Iron Overload in Nonalcoholic Fatty Liver Disease.
25704252 2015 Identification of TMPRSS6 cleavage sites of hemojuvelin.
25666510 2015 Expression of human Hemojuvelin (HJV) is tightly regulated by two upstream open reading frames in HJV mRNA that respond to iron overload in hepatic cells.
25567873 2014 [Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].
25156943 2014 Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
25152992 Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.
24635876 2015 Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.
24356769 2013 Obesity does not influence hepcidin and hemojuvelin levels in hemodialysis patients.
23901875 2014 Hemojuvelin modulates iron stress during acute kidney injury: improved by furin inhibitor.
23375327 Hemojuvelin and iron metabolism in kidney and heart allograft recipients.
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