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FLASH GENE
Symbol JMJD6 contributors: mct - updated : 09-07-2018
HGNC name jumonji domain containing 6
HGNC id 19355
Location 17q25.1      Physical location : 74.708.913 - 74.722.881
Synonym name
  • phosphatidylserine receptor beta
  • JmjC domain-containing protein 6
  • protein PTDSR
  • Synonym symbol(s) PTDSR1, KIAA0585, PSR, PTDSR, PS-R
    EC.number 1.14.11.-
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 13.97 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 5445 47 414 - 2008 18564434
    7 splicing 1834 46 403 - 2008 18564434
    using an alternate splice site in the 3' coding region and an alternate polyadenylation site compared to variant 1
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   moderately
    Endocrinepancreas   moderately
    Lymphoid/Immunespleen   moderately
     thymus   moderately
    Nervousbrain   moderately
    Reproductivefemale systemplacenta  moderately
     female systemovary  moderately
     male systemprostate  moderately
     male systemtestis  moderately
    Respiratorylung   moderately
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines gastric cancer
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a JmJC domain
  • a large groove around the catalytic center, which should be accessible to elongated peptides, and may facilitate the access of lysine side chains of any flexible protein tails to the catalytic center
  • mono polymer homomer
    HOMOLOGY
    interspecies homolog to murine Jmjd6 (97.8pc)
    homolog to rattus Jmjd6 (98.0pc)
    Homologene
    FAMILY
  • JmjC protein family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • receptor for phosphatidylserine (PSR), which facilitates the phagocytosis of dead and dying cells by macrophages and fibroblasts
  • JmjC-containing iron and 2-oxoglutarate-dependent dioxygenase that demethylates histone H3 and histone H4
  • does not directly function in the clearance of apoptotic cells
  • plays a critical role in organ development and terminal differentiation of many cell types during embryogenesis
  • required for differentiation of organs during embryogenesis
  • lysine hydroxylase that specifically recognizes the protein tail of U2AF2, a mediator of RNA splicing
  • probably acts as a key regulator of hematopoietic differentiation
  • likely has a function as a nonheme-Fe(II)-2-oxoglutarate-dependent dioxygenase
  • has important role in vertebrate development (Webby 2009)
  • may have a role in the regulation of RNA splicing
  • may recognize substrates including nucleic acids in addition to the known peptide tails
  • may function as a component of the splicesome (including U2AF2) at the branch site to affect the alternative splicing of pre-mRNA
  • regulates the splicing of FLT1, thereby controlling angiogenic sprouting
  • may act as a molecular sensor coupling oxygen levels to coordinated endothelial responses in order to meet the metabolic demands of the hypoxic tissues
  • WHSC1L1 as well as JMJD6 is recruited to regulated genes in a BRD4-dependent manner
  • has a binding affinity to histone proteins and hydroxylates multiple lysyl residues of histone H3 and H4 tails
  • novel role for JMJD6 as an oxygen sensor in the human placenta, and alterations in the JMJD6-VHL-HIF1A feedback loop may indirectly contribute to elevated HIF1A found in preeclampsia
  • nuclear protein involved in histone modification, transcription and RNA processing
  • JMJD6 may play a role in regulating the production of FLT1 in the preeclamptic placenta
  • intimate link between JMJD6 and U2AF2 in alternative splicing regulation, which has important implications in development and disease processes
  • catalyze both lysyl hydroxylation and arginyl demethylation on diverse protein substrates
  • is a non-heme Fe(II) 2-oxoglutarate (2OG)-dependent oxygenase with arginine demethylase and lysyl hydroxylase activities
  • JMJD6 is a novel stress granules (SG) component that interacts with G3BP1 complexes, and its expression reduces G3BP1 monomethylation and asymmetric dimethylation at three Arg residues
  • JMJD6 functions directly or indirectly as an arginine demethylase of G3BP1 that promotes SG formation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • homomultimer might be playing an important function as a scaffolding protein in the nucleus
  • INTERACTION
    DNA
    RNA interacts directly with RNA
    small molecule
    protein
  • may bind and modify single-stand RNA rather than the previously reported peptide substrates
  • mediates splicing of FLT1 by interacting with U2AF2 (
  • interaction with BRD4 through its extraterminal (ET) domain
  • KDM8 may function as a protein hydroxylase given its structural homology with HIF1AN and JMJD6
  • interactions of both JMJD6 and BRD4 with the CDK9 complex permit its activation and pause release of regulated coding genes
  • JMJD6 antagonizes TP53 acetylation, promotes the association of TP53 with its negative regulator MDM4, and represses transcriptional activity of TP53
  • dual roles for JMJD6 in promoting adipogenic gene expression program by post-transcriptional regulation of CEBPB and CEBPD and direct transcriptional activation of PPARG and CEBPA during adipocyte differentiation
  • interacts with and hydroxylates multiple serine/arginine-rich (SR) proteins and SR related proteins, including U2AF2
  • JMJD6 enhances the MAPK signaling and promotes multiple cellular processes including melanogenesis, proliferation, invasion, and angiogenesis in melanoma cells 3)
  • JMJD6 regulates HOTAIR independent of ER status
  • JMJD6 is found to interact with MED12 in the mediator complex to regulate its recruitment
  • JMJD6 is required for estrogen/ESR1-induced breast cancer cell growth and tumorigenesis
  • cell & other
    REGULATION
    Other modified by an unusual post-translational modification, and might be playing an important function as a scaffolding protein in the nucleus
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer, both JMJD6 and HOTAIR RNAs increase tumor growth and associate with poor prognosis
    tumoral     --over  
    in melanoma, correlated with advanced clinicopathologic stage, aggressiveness, and poor prognosis of melanoma
    constitutional     --other  
    aberrant expression is implicated in various other processes such as impaired T-cell proliferation and maturation, inoculation, and virulence of foot-and-mouth disease virus (FMDV), and impaired methylation of innate immunity factor
    constitutional     --low  
    decreased placental JMJD6 expression may be an important component to the pathophysiology of preeclampsia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerskin 
    target for melanoma intervention
    cancerdigestivecolon
    potential target for colon cancer intervention
    ANIMAL & CELL MODELS
  • many developmental defects are observed in JMJD6 (-/-) knockout mice
  • Mice lacking Jmjd6 expression die perinatally and display cardiac developmental defects