JMJD6

Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 is an enzyme that in humans is encoded by the JMJD6 gene.[5][6]

JMJD6
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesJMJD6, PSR, PTDSR, PTDSR1, arginine demethylase and lysine hydroxylase, jumonji domain containing 6, arginine demethylase and lysine hydroxylase
External IDsOMIM: 604914 MGI: 1858910 HomoloGene: 9046 GeneCards: JMJD6
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q25.1Start76,712,832 bp[1]
End76,726,799 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

23210

107817

Ensembl

ENSG00000070495

ENSMUSG00000056962

UniProt

Q6NYC1

Q9ERI5

RefSeq (mRNA)

NM_001081461
NM_015167

NM_033398
NM_001363363

RefSeq (protein)

NP_001074930
NP_055982

NP_203971
NP_001350292

Location (UCSC)Chr 17: 76.71 – 76.73 MbChr 11: 116.84 – 116.84 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins belong to the alpha-ketoglutarate-dependent hydroxylase superfamily. They are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells. Subsequent studies suggest that the protein may cross-react with a monoclonal antibody that recognizes the phosphatidylserine receptor and does not directly function in the clearance of apoptotic cells. Multiple transcript variants encoding different isoforms have been found for this gene.[6] On a physiological level JMJD6 has a role in angiogenesis, the process of vessel formation, whereas further roles of JMJD6 in pathophysiological processes were implicated, such as mammary tumorigenesis.[7] Here, elevated JMJD6 level were found in breast cancer associated with aggressiveness and metastasis in mice.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000070495 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000056962 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Vandivier RW, Fadok VA, Hoffmann PR, Bratton DL, Penvari C, Brown KK, Brain JD, Accurso FJ, Henson PM (March 2002). "Elastase-mediated phosphatidylserine receptor cleavage impairs apoptotic cell clearance in cystic fibrosis and bronchiectasis". The Journal of Clinical Investigation. 109 (5): 661–70. doi:10.1172/JCI13572. PMC 150889. PMID 11877474.
  6. "Entrez Gene: JMJD6 jumonji domain containing 6".
  7. Boeckel JN, Guarani V, Koyanagi M, Roexe T, Lengeling A, Schermuly RT, Gellert P, Braun T, Zeiher A, Dimmeler S (February 2011). "Jumonji domain-containing protein 6 (Jmjd6) is required for angiogenic sprouting and regulates splicing of VEGF-receptor 1". Proceedings of the National Academy of Sciences of the United States of America. 108 (8): 3276–81. doi:10.1073/pnas.1008098108. PMC 3044381. PMID 21300889.
  8. Aprelikova O, Chen K, El Touny LH, Brignatz-Guittard C, Han J, Qiu T, Yang HH, Lee MP, Zhu M, Green JE (14 Apr 2016). "The epigenetic modifier JMJD6 is amplified in mammary tumors and cooperates with c-Myc to enhance cellular transformation, tumor progression, and metastasis". Clin Epigenetics. 8 (38): 38. doi:10.1186/s13148-016-0205-6. PMC 4831179. PMID 27081402.

Further reading


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