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HPMR

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176557

jumonji domain containing 6 OKDB#: 937
 Symbols: JMJD6 Species: human
 Synonyms: PSR, PTDSR, PTDSR1  Locus: 17q25 in Homo sapiens
HPMR


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment During apoptosis, the asymmetry of plasma membrane phospholipids is lost, which exposes phosphatidylserine externally. The phagocytosis of apoptotic cells can be inhibited stereospecifically by phosphatidylserine and its structural analogs, but not by other anionic phospholipids, suggesting that phosphatidylserine is specifically recognized. Fadok et al. (2000) used phage display to clone a gene that appeared to recognize phosphatidylserine on apoptotic cells. they showed that this gene, phosphatidylserine receptor or PSR, when transfected into B and T lymphocytes, enabled them to recognize and engulf apoptotic cells in a phosphatidylserine-specific manner.

NCBI Summary: This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins 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; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
General function Receptor, Cell death/survival, Apoptosis
Comment
Cellular localization Plasma membrane
Comment
Ovarian function Follicle atresia, Luteolysis
Comment
Expression regulated by
Comment
Ovarian localization
Comment Using RT-PCR, Nagase et al. (1998) found that expression was high in heart, skeletal muscle, and kidney, and moderate or low in brain, placenta, lung, liver, pancreas, spleen, thymus, prostate, testis, and ovary.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: May 30, 2000, midnight by: hsueh   email:
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last update: Nov. 4, 2015, 1:42 p.m. by: hsueh    email:



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