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

Gene ID: 4352, updated on 27-Dec-2024

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; AllianceGenome:HGNC:7217
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
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Genomic context

See MPL in Genome Data Viewer
Location:
1p34.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43337818..43354466)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43208365..43225013)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43803489..43820137)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43751233-43751791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43751792-43752349 Neighboring gene chromosome 1 open reading frame 210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 915 Neighboring gene tyrosine kinase with immunoglobulin like and EGF like domains 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:43813871-43814842 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:43814843-43815813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43823421-43823929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 916 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43824440-43824948 Neighboring gene CDC20 divergent transcript Neighboring gene cell division cycle 20

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Congenital amegakaryocytic thrombocytopenia 1
MedGen: C5882667 OMIM: 604498 GeneReviews: Not available
not available
Primary myelofibrosis
MedGen: C0001815 OMIM: 254450 GeneReviews: Not available
Compare labs
Thrombocythemia 2
MedGen: C3275998 OMIM: 601977 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding PubMed 
enables thrombopoietin receptor activity  
enables thrombopoietin receptor activity PubMed 
Process Evidence Code Pubs
involved_in basophil homeostasis  
involved_in cellular response to hypoxia  
involved_in eosinophil homeostasis  
involved_in monocyte homeostasis  
involved_in neutrophil homeostasis  
involved_in positive regulation of lymphocyte proliferation  
involved_in positive regulation of platelet formation  
involved_in thrombopoietin-mediated signaling pathway  
involved_in thrombopoietin-mediated signaling pathway PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus PubMed 
located_in cell surface PubMed 
is_active_in external side of plasma membrane  
located_in neuronal cell body  
located_in nuclear membrane  
is_active_in plasma membrane PubMed 
located_in plasma membrane  
located_in plasma membrane  

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)

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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, Q5JUZ0
    UniProtKB/TrEMBL
    Q5JUY5
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    43337818..43354466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    43208365..43225013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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