Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol L3MBTL3 contributors: mct - updated : 02-05-2018
HGNC name l(3)mbt-like 3 (Drosophila)
HGNC id 23035
Location 6q23.1      Physical location : 130.339.727 - 130.462.593
Synonym name
  • Lethal(3)malignant brain tumor-like 3 protein
  • H-l(3)mbt-like protein
  • Synonym symbol(s) KIAA1798, MBT1, RP11-73O6.1, H-l, MBT-1
    DNA
    TYPE functioning gene
    STRUCTURE 123.08 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC246737 6q23.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene LOC389428 6 similar to ribosomal protein L5; 60S ribosomal protein L5 KIAA0408 6q22.33 KIAA0408 LOC389429 6 similar to RIKEN cDNA 2310057J18 MRPS17P5 6q22.33 mitochondrial ribosomal protein S17 pseudogene 5 PTPRK 6q22.2-q22.3 protein tyrosine phosphatase, receptor type, K LOC391970 6 similar to eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) LAMA2 6q22-q23 laminin, alpha 2 (merosin, congenital muscular dystrophy) LOC338470 6q22-q23 mesoderm specific transcript homolog (mouse) pseudogene ARHGAP18 6q23.1 Rho GTPase activating protein 18 C6orf191 6q23.1 chromosome 6 open reading frame 191 L3MBTL3 6q23 l(3)mbt-like 3 (Drosophila) SAMD3 6q23.1 sterile alpha motif domain containing 3 KIAA1913 6q23.1 KIAA1913 EPB41L2 6q23 erythrocyte membrane protein band 4.1-like 2 AKAP7 6q22-q23 a kinase (PRKA) anchor protein 7 ARG1 6q22.3-q23.1 arginase, liver CRSP3 6q22.33-q24.1 cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa ENPP3 6q22 ectonucleotide pyrophosphatase/phosphodiesterase 3 OR2A4 6q33-q35 olfactory receptor, family 2, subfamily A, member 4 ENPP1 6q22-q23 ectonucleotide pyrophosphatase/phosphodiesterase 1 CTGF 6q23.1 connective tissue growth factor MOXD1 6q22-q23 monooxygenase, DBH-like 1 STX7 6q22.3-q24 syntaxin 7 TAR3 6q23.1 trace amine receptor 3 GPR102 6q23.2 G protein-coupled receptor 102 TA4 6q23.1 trace amine receptor 4 PNR 6q23 putative neurotransmitter receptor GPR57 6q23-q24 G protein-coupled receptor 57 GPR58 6q23-q24 G protein-coupled receptor 58 TAR1 6q23.1 trace amine receptor 1 VNN1 6q23-q24 vanin 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 4429 88.2 780 - 2017 29030483
  • isoform a
  • 22 - 4354 85 755 - 2017 29030483
  • lacking an alternate in-frame exon
  • isoform b has the same N- and C-termini but is shorter
  • 22 - 4236 - 755 - 2017 29030483
    22 - 4128 - 755 - 2017 29030483
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     intestinesmall intestine  highly
    Endocrineadrenal gland    
    Nervousnervecranial nerve  highly
    Reproductivemale systemtestis   
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three MBT repeats
  • one SAM (sterile alpha motif) domain
  • HOMOLOGY
    interspecies homolog to murine L3mbtl3 (88.0pc)
    Homologene
    FAMILY
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • Polycomb group protein specifically regulating the maturational advancement of myeloid progenitor cells during transitions between two developmental stages
  • may be influencing myelopoiesis by transiently enhancing p57(KIP2) expression levels
  • recognizes mono- and dimethylated lysine residues on histone tails
  • L3MBTL3 engages likely methylated histone tails as a dimer while carrying out its normal function, providing an explanation for the presence of repeated MBT domains within L3MBTL3
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • in the absence of NOTCH intracellular domain (NOTCH ICD), RBPJ recruits L3MBTL3 and the histone demethylase KDM1A (also known as LSD1) to the enhancers of Notch target genes, leading to H3K4me2 demethylation and to transcriptional repression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS