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FLASH GENE
Symbol MPL contributors: SGE - updated : 15-06-2009
HGNC name myeloproliferative leukemia virus oncogene
HGNC id 7217
Corresponding disease
CAMT congenital amegakaryocytic thrombocytopenia
Location 1p34.2      Physical location : 43.803.474 - 43.820.134
Synonym name
  • thrombopoietin receptor
  • CD110 antigen
    • Synonym symbol(s) TPOR, CD110, MPLV, CAMT, c-MPL
    DNA
    TYPE functioning gene
    STRUCTURE 16.66 kb     12 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    PPIH 1p34.1 peptidyl prolyl isomerase H (cyclophilin H) NSEP1 1p34 nuclease sensitive element binding protein 1 CLDN19 1p33-34.2 claudin 19 LEPRE1 1p34.1 leucine proline-enriched proteoglycan (leprecan) 1 MGC955 1p34.1 hypothetical protein MGC955 LOC388624 1 LOC388624 ERMAP 1p34.1 erythroblast membrane-associated protein LOC51058 1p34.1 hypothetical protein LOC51058 LOC391032 1 similar to EVIN1; expressed in activated T/LAK lymphocytes LOC391033 1 similar to Makorin 1 LOC343515 1p34.1 similar to ATPase, H+ transporting, lysosomal 31kD, V1 subunit E isoform 1; V-ATPase, subunit E; H(+)-transporting two-sector ATPase, 31kDa subunit; H+-transporting ATP synthase chain E, vacuolar; vacuolar proton pump, 31-kd subunit SLC2A1 1p35-p31.3 solute carrier family 2 (facilitated glucose transporter), member 1 EBNA1BP2 1p35-p33 EBNA1 binding protein 2 FLJ32000 1p34.1 hypothetical protein FLJ32000 LOC256339 1p34.1 similar to ENSANGP00000010412 MGC17299 1p34.1 hypothetical protein MGC17299 MGC52423 1p34.1 hypothetical protein MGC52423 TIE 1p34 tyrosine kinase with immunoglobulin and epidermal growth factor homology domains CDC20 9q13-q21 CDC20 cell division cycle 20 homolog (S. cerevisiae) MPL 1p34 myeloproliferative leukemia virus oncogene ELOVL1 1p34.1 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 MED8 1p34.1 mediator of RNA polymerase II transcription, subunit 8 homolog (yeast) LOC388625 1 similar to FLJ00408 protein HT036 1p34.1 hypothetical protein HT036 PTPRF 1p34 protein tyrosine phosphatase, receptor type, F JMJD2 1p34.1 jumonji domain containing 2 SIAT6 1p34.1 sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase) ARTN 1p32-p31.3 artemin IPO13 1p34.1 importin 13 DPH2L2 1p34 diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae) ATP6V0B 1p32.3 ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c'' B4GALT2 1p34-p33 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 MGC45441 1p34.1 hypothetical protein MGC45441 SLC6A9 1p33 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
    RNA
    TRANSCRIPTS type messenger
    text three alternatively spliced isoforms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3700 - 365 hematopoietic cells 1992 1608974
    - splicing 1800 - 579 hematopoietic cells 1992 1608974
  • also called MPL-K
  • last exon made of exon 10 and part of intron 10
    • - splicing - - - secreted -
  • also called MPL-S
  • lacking exons 9, 10
    • 12 - 3645 - 635 - 2000 10880227
    also called isoform DEL
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    cell lineage hematopoietic cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two intracellular cytokine receptor box motifs containing cysteine residues receptor, transducing exclusive signals in embryonic and fetal hematopoietic cells; within the Mpl-EC domain 1 (Mpl-EC-D1), AAs 102–251 were strongly involved in ligand binding (TPO and NUDC- binding to the AA region from 206 to 251)
  • the WSXWS motif, participating in the interaction between MPL and NUDC, and may play a role in stabilizing the conformation of the receptor during cytokine binding
  • two fibronectin type 3 domains
    • mono polymer dimer
    HOMOLOGY
    intraspecies homolog to virus myeloproliferative leukemia oncogene
    Homologene
    FAMILY
  • type I cytokine receptor family
  • type 1 subfamily
    • CATEGORY protooncogene , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type 1 membrane protein
    basic FUNCTION
  • may be a regulatory molecule specific for TPOR dependent immune responses
  • playing a specific role in early embryonic or fetal hematopoietic progenitors and stem cells
  • positive-selection marker for the isolation of cancer stem cells in some case of T-caute lymphoblastic leukemia (Yamazaki 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of transmembrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein . regulated by RUNX1, both positively and negatively by changing the binding partner according to cell types
  • receptor of thrombopoietin
  • interacts with NUDC
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CAMT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in polycythemia vera and idiopathic myelofibrosis
    tumoral     --over  
    in B precursor leukemia cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS