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    THPO thrombopoietin [ Homo sapiens (human) ]

    Gene ID: 7066, updated on 9-Jun-2016
    Official Symbol
    THPOprovided by HGNC
    Official Full Name
    thrombopoietinprovided by HGNC
    Primary source
    HGNC:HGNC:11795
    See related
    Ensembl:ENSG00000090534 HPRD:02500; MIM:600044; Vega:OTTHUMG00000156745
    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
    ML; TPO; MGDF; MKCSF; MPLLG; THCYT1
    Summary
    Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014]
    Orthologs
    Location:
    3q27
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (184371935..184379688, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (184089773..184097368, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 131 member A Neighboring gene chloride voltage-gated channel 2 Neighboring gene polymerase (RNA) II subunit H Neighboring gene chordin Neighboring gene uncharacterized LOC105374250

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Essential thrombocythemia
    MedGen: C0040028 OMIM: 187950 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Platelet Aggregation (Plug Formation), organism-specific biosystem (from REACTOME)
      Platelet Aggregation (Plug Formation), organism-specific biosystemThe tethering of platelets to the site of vascular injury is the first step in the formation of a platelet thrombus. Firm adhesion of these tethered platelets, as well as the additional recruitment o...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC163194

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity IEA
    Inferred from Electronic Annotation
    more info
     
    growth factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    myeloid cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of hematopoietic stem cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of megakaryocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein kinase B signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    thrombopoietin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    thrombopoietin
    Names
    MPL ligand
    c-mpl ligand
    megakaryocyte colony-stimulating factor
    megakaryocyte growth and development factor
    megakaryocyte stimulating factor
    myeloproliferative leukemia virus oncogene ligand
    prepro-thrombopoietin

    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_012136.1 RefSeqGene

      Range
      3457..11210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000460.3NP_000451.1  thrombopoietin isoform 1 precursor

      See identical proteins and their annotated locations for NP_000451.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents use of the downstream promoter and comprises six exons. It encodes the main functional protein (isoform 1).
      Source sequence(s)
      AA479058, AC078797, BC136338, BC143982, L33410
      Consensus CDS
      CCDS3265.1
      UniProtKB/Swiss-Prot
      P40225
      Related
      ENSP00000204615, OTTHUMP00000210502, ENST00000204615, OTTHUMT00000345554
      Conserved Domains (1) summary
      pfam00758
      Location:24188
      EPO_TPO; Erythropoietin/thrombopoietin
    2. NM_001177597.2NP_001171068.1  thrombopoietin isoform 2 precursor

      See identical proteins and their annotated locations for NP_001171068.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of the downstream promoter and comprises six exons. It uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AA479058, AC078797, BC143982, L33410
      Consensus CDS
      CCDS54693.1
      UniProtKB/Swiss-Prot
      P40225
      Related
      ENSP00000410763, OTTHUMP00000210503, ENST00000445696, OTTHUMT00000345555
      Conserved Domains (1) summary
      pfam00758
      Location:24184
      EPO_TPO; Erythropoietin/thrombopoietin
    3. NM_001177598.2NP_001171069.1  thrombopoietin isoform 3 precursor

      See identical proteins and their annotated locations for NP_001171069.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of the downstream promoter and comprises six exons. It uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA479058, AA480029, AB102890, AC078797, BC143982
      UniProtKB/Swiss-Prot
      P40225
      UniProtKB/TrEMBL
      Q5FBX8
      Conserved Domains (1) summary
      pfam00758
      Location:24172
      EPO_TPO; Erythropoietin/thrombopoietin
    4. NM_001289997.1NP_001276926.1  thrombopoietin isoform 4 precursor

      See identical proteins and their annotated locations for NP_001276926.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of the downstream promoter and comprises six exons. It lacks an internal segment in the 3' exon, which results in a frameshift, compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA479058, AC078797, AK311002, BC143982, L33410, U11025
      Consensus CDS
      CCDS77867.1
      UniProtKB/Swiss-Prot
      P40225
      UniProtKB/TrEMBL
      F8W6L1
      Related
      ENSP00000411704, OTTHUMP00000210504, ENST00000421442, OTTHUMT00000345556
      Conserved Domains (1) summary
      pfam00758
      Location:24159
      EPO_TPO; Erythropoietin/thrombopoietin
    5. NM_001289998.1NP_001276927.1  thrombopoietin isoform 1 precursor

      See identical proteins and their annotated locations for NP_001276927.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of the upstream promoter and comprises seven exons. It is longer at the 5' end, compared to variant 1. This variant can initiate translation from two in-frame AUG sites. The isoform (1) represented in this Refseq is derived from the downstream AUG start codon and is identical to the isoform encoded by variant 1.
      Source sequence(s)
      AA479058, AC078797, BC136338, BC143982, L33410
      Consensus CDS
      CCDS3265.1
      UniProtKB/Swiss-Prot
      P40225
      Conserved Domains (1) summary
      pfam00758
      Location:24188
      EPO_TPO; Erythropoietin/thrombopoietin
    6. NM_001290003.1NP_001276932.1  thrombopoietin isoform 5

      See identical proteins and their annotated locations for NP_001276932.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of the upstream promoter and comprises seven exons. It is longer at the 5' end, compared to variant 1. This variant can initiate translation from two in-frame AUG sites. The isoform (5) represented in this Refseq is derived from the upstream AUG start codon and is longer at the N-terminus, compared to isoform 1. This isoform was described as a uAUG4 product in PMID: 9834204 and had no thrombopoietin bioactivity.
      Source sequence(s)
      AA479058, AC078797, BC136338, BC143982, L33410
      UniProtKB/Swiss-Prot
      P40225
      Conserved Domains (1) summary
      pfam00758
      Location:164328
      EPO_TPO; Erythropoietin/thrombopoietin
    7. NM_001290022.1NP_001276951.1  thrombopoietin isoform 2 precursor

      See identical proteins and their annotated locations for NP_001276951.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents use of the upstream promoter and comprises seven exons. This variant is longer at the 5' end and has an alternate in-frame splice site in the 3' coding region, compared to variant 1. This variant includes two main in-frame AUG sites, but translation initiated from the upstream AUG codon for this variant is not reported in literature. The isoform (2) represented in this RefSeq is derived from the downstream AUG start codon; it is identical to the isoform encoded by variant 2 and lacks an internal segment, as compared to isoform 1. This variant was reported in PMID: 7822271.
      Source sequence(s)
      AA479058, AC078797, BC143982, L33410
      Consensus CDS
      CCDS54693.1
      UniProtKB/Swiss-Prot
      P40225
      Conserved Domains (1) summary
      pfam00758
      Location:24184
      EPO_TPO; Erythropoietin/thrombopoietin
    8. NM_001290026.1NP_001276955.1  thrombopoietin isoform 3 precursor

      See identical proteins and their annotated locations for NP_001276955.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents use of the upstream promoter and comprises seven exons. This variant is longer at the 5' end and has an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. This variant includes two main in-frame AUG sites, but translation initiated from the upstream AUG codon for this variant is not reported in literature. The isoform (3) represented in this RefSeq is derived from the downstream AUG start codon; it is identical to the isoform encoded by variant 3 and lacks an internal segment, as compared to isoform 1. This variant was reported in PMID: 7822271.
      Source sequence(s)
      AA479058, AA480029, AB102890, AC078797, BC143982
      UniProtKB/Swiss-Prot
      P40225
      UniProtKB/TrEMBL
      Q5FBX8
      Conserved Domains (1) summary
      pfam00758
      Location:24172
      EPO_TPO; Erythropoietin/thrombopoietin
    9. NM_001290027.1NP_001276956.1  thrombopoietin isoform 4 precursor

      See identical proteins and their annotated locations for NP_001276956.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents use of the upstream promoter and comprises seven exons. It includes two main in-frame AUG sites, but translation initiated from the upstream AUG codon for this variant is not reported in literature. The isoform (4) represented in this RefSeq is derived from the downstream AUG start codon; it is identical to the isoform encoded by variant 4 and lacks an internal segment, as compared to isoform 1. This variant was reported in PMID: 7822271.
      Source sequence(s)
      AA479058, AC078797, AK311002, BC143982, L33410, U11025
      Consensus CDS
      CCDS77867.1
      UniProtKB/Swiss-Prot
      P40225
      UniProtKB/TrEMBL
      F8W6L1
      Conserved Domains (1) summary
      pfam00758
      Location:24159
      EPO_TPO; Erythropoietin/thrombopoietin
    10. NM_001290028.1NP_001276957.1  thrombopoietin isoform 1 precursor

      See identical proteins and their annotated locations for NP_001276957.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) represents use of the upstream promoter, but lacks an internal exon, compared to other transcripts with the same upstream promoter usage. This variant has an alternate 5' UTR exon and encodes the same isoform (1), compared to variant 1. This variant was reported in PMID: 9834204.
      Source sequence(s)
      AA479058, AC078797, BC136338, BC143982, L33410
      Consensus CDS
      CCDS3265.1
      UniProtKB/Swiss-Prot
      P40225
      Conserved Domains (1) summary
      pfam00758
      Location:24188
      EPO_TPO; Erythropoietin/thrombopoietin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      184371935..184379688 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007107.1XP_016862596.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      184054180..184061933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199228.1: Suppressed sequence

      Description
      NM_199228.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_199356.1: Suppressed sequence

      Description
      NM_199356.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.