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MPL MPL proto-oncogene, thrombopoietin receptor [ Homo sapiens (human) ]

Gene ID: 4352, updated on 18-Aug-2020

Summary

Official Symbol
MPLprovided by HGNC
Official Full Name
MPL proto-oncogene, thrombopoietin receptorprovided by HGNC
Primary source
HGNC:HGNC:7217
See related
Ensembl:ENSG00000117400 MIM:159530
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MPLV; TPOR; C-MPL; CD110; THPOR; THCYT2
Summary
In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See MPL in Genome Data Viewer
Location:
1p34.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (43336875..43354466)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43803475..43820135)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 210 Neighboring gene tyrosine kinase with immunoglobulin like and EGF like domains 1 Neighboring gene uncharacterized LOC105378687 Neighboring gene cell division cycle 20

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thrombopoietin receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
basophil homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
eosinophil homeostasis IEA
Inferred from Electronic Annotation
more info
 
monocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
neutrophil homeostasis IEA
Inferred from Electronic Annotation
more info
 
platelet aggregation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lymphocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of platelet formation IEA
Inferred from Electronic Annotation
more info
 
thrombopoietin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
thrombopoietin receptor
Names
TPO-R
myeloproliferative leukemia protein
myeloproliferative leukemia virus oncogene
proto-oncogene c-Mpl

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007525.1 RefSeqGene

    Range
    5001..21661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_510

mRNA and Protein(s)

  1. NM_005373.3NP_005364.1  thrombopoietin receptor precursor

    See identical proteins and their annotated locations for NP_005364.1

    Status: REVIEWED

    Source sequence(s)
    AL139289, M90102
    Consensus CDS
    CCDS483.1
    UniProtKB/Swiss-Prot
    P40238
    Related
    ENSP00000361548.3, ENST00000372470.9
    Conserved Domains (2) summary
    cd00063
    Location:395485
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam09067
    Location:25128
    EpoR_lig-bind; Erythropoietin receptor, ligand binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    43336875..43354466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001320.1XP_016856809.1  thrombopoietin receptor isoform X1

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