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THPO thrombopoietin [ Homo sapiens (human) ]

Gene ID: 7066, updated on 16-Apr-2014
Official Symbol
THPOprovided by HGNC
Official Full Name
thrombopoietinprovided by HGNC
Primary source
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]
Location :
3q27
Sequence :
Chromosome: 3; NC_000003.12 (184371985..184379625, complement)
See THPO in Epigenomics, MapViewer

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 131, member A Neighboring gene chloride channel, voltage-sensitive 2 Neighboring gene polymerase (RNA) II (DNA directed) polypeptide H Neighboring gene chordin Neighboring gene transmembrane epididymal protein 1 pseudogene

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
  • 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...
  • 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

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
blood coagulation TAS
Traceable Author Statement
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal development TAS
Traceable Author Statement
more info
PubMed 
myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
positive regulation of ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
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
thrombopoietin
MPL ligand
c-mpl ligand
prepro-thrombopoietin
megakaryocyte stimulating factor
megakaryocyte colony-stimulating factor
megakaryocyte growth and development factor
myeloproliferative leukemia virus oncogene ligand

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
    5001..11160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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
    Blast Score: 504
    EPO_TPO; Erythropoietin/thrombopoietin
  2. NM_001177597.2NP_001171068.1  thrombopoietin isoform 2 precursor

    See proteins identical to 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
    Blast Score: 476
    EPO_TPO; Erythropoietin/thrombopoietin
  3. NM_001177598.2NP_001171069.1  thrombopoietin isoform 3 precursor

    See proteins identical to 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/TrEMBL
    Q5FBX8
    Conserved Domains (1) summary
    pfam00758
    Location:24172
    Blast Score: 350
    EPO_TPO; Erythropoietin/thrombopoietin
  4. NM_001289997.1NP_001276926.1  thrombopoietin isoform 4 precursor

    See proteins identical to 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
    Conserved Domains (1) summary
    pfam00758
    Location:24159
    Blast Score: 435
    EPO_TPO; Erythropoietin/thrombopoietin
  5. NM_001289998.1NP_001276927.1  thrombopoietin isoform 1 precursor

    See proteins identical to 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
    Conserved Domains (1) summary
    pfam00758
    Location:24188
    Blast Score: 504
    EPO_TPO; Erythropoietin/thrombopoietin
  6. NM_001290003.1NP_001276932.1  thrombopoietin isoform 5

    See proteins identical to 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
    Conserved Domains (1) summary
    pfam00758
    Location:164328
    Blast Score: 508
    EPO_TPO; Erythropoietin/thrombopoietin
  7. NM_001290022.1NP_001276951.1  thrombopoietin isoform 2 precursor

    See proteins identical to 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
    Conserved Domains (1) summary
    pfam00758
    Location:24184
    Blast Score: 476
    EPO_TPO; Erythropoietin/thrombopoietin
  8. NM_001290026.1NP_001276955.1  thrombopoietin isoform 3 precursor

    See proteins identical to 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
    Conserved Domains (1) summary
    pfam00758
    Location:24172
    Blast Score: 350
    EPO_TPO; Erythropoietin/thrombopoietin
  9. NM_001290027.1NP_001276956.1  thrombopoietin isoform 4 precursor

    See proteins identical to 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
    Conserved Domains (1) summary
    pfam00758
    Location:24159
    Blast Score: 435
    EPO_TPO; Erythropoietin/thrombopoietin
  10. NM_001290028.1NP_001276957.1  thrombopoietin isoform 1 precursor

    See proteins identical to 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
    Conserved Domains (1) summary
    pfam00758
    Location:24188
    Blast Score: 504
    EPO_TPO; Erythropoietin/thrombopoietin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12

    Range
    184371985..184379625, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247737.2XP_005247794.1  

    Conserved Domains (1) summary
    pfam00758
    Location:189353
    Blast Score: 511
    EPO_TPO; Erythropoietin/thrombopoietin
  2. XM_006713739.1XP_006713802.1  

    See proteins identical to XP_006713802.1

    Conserved Domains (1) summary
    pfam00758
    Location:191355
    Blast Score: 507
    EPO_TPO; Erythropoietin/thrombopoietin
  3. XM_006713738.1XP_006713801.1  

    See proteins identical to XP_006713801.1

    Conserved Domains (1) summary
    pfam00758
    Location:191355
    Blast Score: 507
    EPO_TPO; Erythropoietin/thrombopoietin

Alternate HuRef

Genomic

  1. AC_000135.1 Alternate HuRef

    Range
    181496308..181502467, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    184054230..184060389, 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.

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