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P40238

- TPOR_HUMAN

UniProt

P40238 - TPOR_HUMAN

Protein

Thrombopoietin receptor

Gene

MPL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 1 (01 Feb 1995)
      Previous versions | rss
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    Functioni

    Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune responses.

    GO - Molecular functioni

    1. cytokine receptor activity Source: InterPro
    2. transmembrane signaling receptor activity Source: ProtInc

    GO - Biological processi

    1. blood coagulation Source: Reactome
    2. cell proliferation Source: ProtInc
    3. cell surface receptor signaling pathway Source: ProtInc
    4. homeostasis of number of cells Source: Ensembl
    5. platelet activation Source: Reactome
    6. regulation of chemokine production Source: Ensembl

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_278. Platelet Aggregation (Plug Formation).
    SignaLinkiP40238.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Thrombopoietin receptor
    Short name:
    TPO-R
    Alternative name(s):
    Myeloproliferative leukemia protein
    Proto-oncogene c-Mpl
    CD_antigen: CD110
    Gene namesi
    Name:MPL
    Synonyms:TPOR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:7217. MPL.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]: Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Thrombocythemia 2 (THCYT2) [MIM:601977]: A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti505 – 5051S → N in THCYT2; activating mutation; induces MPL autonomous dimerization and signal activation in the absence of the ligand. 1 Publication
    Corresponds to variant rs121913614 [ dbSNP | Ensembl ].
    VAR_067559
    Natural varianti515 – 5151W → L in THCYT2 and MMM; somatic mutation in myelofibrosis with myeloid metaplasia; results in cytokine-independent growth and thrombopoietin hypersensitivity; results in constitutive activation of JAK-STAT signaling pathway. 2 Publications
    Corresponds to variant rs121913615 [ dbSNP | Ensembl ].
    VAR_067561
    Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450]: A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti515 – 5151W → K in MMM; somatic mutation; requires 2 nucleotide substitutions. 1 Publication
    VAR_067560
    Natural varianti515 – 5151W → L in THCYT2 and MMM; somatic mutation in myelofibrosis with myeloid metaplasia; results in cytokine-independent growth and thrombopoietin hypersensitivity; results in constitutive activation of JAK-STAT signaling pathway. 2 Publications
    Corresponds to variant rs121913615 [ dbSNP | Ensembl ].
    VAR_067561

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi254450. phenotype.
    601977. phenotype.
    604498. phenotype.
    Orphaneti3319. Congenital amegakaryocytic thrombocytopenia.
    3318. Essential thrombocythemia.
    71493. Familial thrombocytosis.
    824. Myelofibrosis with myeloid metaplasia.
    729. Polycythemia vera.
    PharmGKBiPA30923.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 635610Thrombopoietin receptorPRO_0000010987Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi40 ↔ 50By similarity
    Disulfide bondi77 ↔ 93By similarity
    Glycosylationi117 – 1171N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi178 – 1781N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi291 ↔ 301By similarity
    Glycosylationi298 – 2981N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi323 ↔ 334By similarity
    Glycosylationi358 – 3581N-linked (GlcNAc...)Sequence Analysis
    Cross-linki553 – 553Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
    Cross-linki573 – 573Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)

    Post-translational modificationi

    Ubiquitination at Lys-553 and Lys-573 targets MPL for degradation by both the lysosomal and proteasomal pathways. The E3 ubiquitin-protein ligase CBL significantly contributes to this ubiquitination.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Isopeptide bond, Ubl conjugation

    Proteomic databases

    PaxDbiP40238.
    PRIDEiP40238.

    PTM databases

    PhosphoSiteiP40238.

    Expressioni

    Tissue specificityi

    Expressed at a low level in a large number of cells of hematopoietic origin. Isoform 1 and isoform 2 are always found to be coexpressed.

    Gene expression databases

    ArrayExpressiP40238.
    BgeeiP40238.
    CleanExiHS_MPL.
    GenevestigatoriP40238.

    Organism-specific databases

    HPAiCAB002011.
    HPA007619.

    Interactioni

    Subunit structurei

    Interacts with ATXN2L.1 Publication

    Protein-protein interaction databases

    BioGridi110492. 6 interactions.
    DIPiDIP-5730N.
    IntActiP40238. 1 interaction.
    STRINGi9606.ENSP00000361548.

    Structurei

    3D structure databases

    ProteinModelPortaliP40238.
    SMRiP40238. Positions 22-169.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini26 – 491466ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini514 – 635122CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei492 – 51322HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini172 – 281110Fibronectin type-III 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini392 – 48695Fibronectin type-III 2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi474 – 4785WSXWS motif
    Motifi528 – 5369Box 1 motif

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi335 – 3384Poly-Glu
    Compositional biasi508 – 5136Poly-Leu

    Domaini

    The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
    The box 1 motif is required for JAK interaction and/or activation.

    Sequence similaritiesi

    Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG39882.
    HOGENOMiHOG000138191.
    HOVERGENiHBG000085.
    InParanoidiP40238.
    KOiK05082.
    OMAiQETCYQL.
    PhylomeDBiP40238.
    TreeFamiTF336573.

    Family and domain databases

    Gene3Di2.60.40.10. 4 hits.
    InterProiIPR003961. Fibronectin_type3.
    IPR015152. Growth/epo_recpt_lig-bind.
    IPR013783. Ig-like_fold.
    IPR003528. Long_hematopoietin_rcpt_CS.
    [Graphical view]
    PfamiPF09067. EpoR_lig-bind. 1 hit.
    PF00041. fn3. 1 hit.
    [Graphical view]
    SMARTiSM00060. FN3. 2 hits.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 4 hits.
    PROSITEiPS50853. FN3. 2 hits.
    PS01352. HEMATOPO_REC_L_F1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P40238-1) [UniParc]FASTAAdd to Basket

    Also known as: C-mpl-P

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPSWALFMVT SCLLLAPQNL AQVSSQDVSL LASDSEPLKC FSRTFEDLTC    50
    FWDEEEAAPS GTYQLLYAYP REKPRACPLS SQSMPHFGTR YVCQFPDQEE 100
    VRLFFPLHLW VKNVFLNQTR TQRVLFVDSV GLPAPPSIIK AMGGSQPGEL 150
    QISWEEPAPE ISDFLRYELR YGPRDPKNST GPTVIQLIAT ETCCPALQRP 200
    HSASALDQSP CAQPTMPWQD GPKQTSPSRE ASALTAEGGS CLISGLQPGN 250
    SYWLQLRSEP DGISLGGSWG SWSLPVTVDL PGDAVALGLQ CFTLDLKNVT 300
    CQWQQQDHAS SQGFFYHSRA RCCPRDRYPI WENCEEEEKT NPGLQTPQFS 350
    RCHFKSRNDS IIHILVEVTT APGTVHSYLG SPFWIHQAVR LPTPNLHWRE 400
    ISSGHLELEW QHPSSWAAQE TCYQLRYTGE GHQDWKVLEP PLGARGGTLE 450
    LRPRSRYRLQ LRARLNGPTY QGPWSSWSDP TRVETATETA WISLVTALHL 500
    VLGLSAVLGL LLLRWQFPAH YRRLRHALWP SLPDLHRVLG QYLRDTAALS 550
    PPKATVSDTC EEVEPSLLEI LPKSSERTPL PLCSSQAQMD YRRLQPSCLG 600
    TMPLSVCPPM AESGSCCTTH IANHSYLPLS YWQQP 635
    Length:635
    Mass (Da):71,245
    Last modified:February 1, 1995 - v1
    Checksum:iD25D8D8959359DDC
    GO
    Isoform 2 (identifier: P40238-2) [UniParc]FASTAAdd to Basket

    Also known as: C-mpl-K

    The sequence of this isoform differs from the canonical sequence as follows:
         523-579: RLRHALWPSL...ILPKSSERTP → YRPRQAGDWR...LWDSPRLLTL
         580-635: Missing.

    Show »
    Length:579
    Mass (Da):65,521
    Checksum:i7A1431E9F64E21D4
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391K → N Functional polymorphism associated with thrombocytosis; results in altered MPL expression. 1 Publication
    Corresponds to variant rs17292650 [ dbSNP | Ensembl ].
    VAR_049173
    Natural varianti58 – 581A → V.1 Publication
    Corresponds to variant rs6087 [ dbSNP | Ensembl ].
    VAR_011988
    Natural varianti114 – 1141V → M.
    Corresponds to variant rs12731981 [ dbSNP | Ensembl ].
    VAR_049174
    Natural varianti168 – 1681E → K.1 Publication
    Corresponds to variant rs6088 [ dbSNP | Ensembl ].
    VAR_011989
    Natural varianti505 – 5051S → N in THCYT2; activating mutation; induces MPL autonomous dimerization and signal activation in the absence of the ligand. 1 Publication
    Corresponds to variant rs121913614 [ dbSNP | Ensembl ].
    VAR_067559
    Natural varianti515 – 5151W → K in MMM; somatic mutation; requires 2 nucleotide substitutions. 1 Publication
    VAR_067560
    Natural varianti515 – 5151W → L in THCYT2 and MMM; somatic mutation in myelofibrosis with myeloid metaplasia; results in cytokine-independent growth and thrombopoietin hypersensitivity; results in constitutive activation of JAK-STAT signaling pathway. 2 Publications
    Corresponds to variant rs121913615 [ dbSNP | Ensembl ].
    VAR_067561

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei523 – 57957RLRHA…SERTP → YRPRQAGDWRWTRWSRTCKQ AFLVRSVTPDLRPPPVRTYG FALPARHLWDSPRLLTL in isoform 2. 1 PublicationVSP_001734Add
    BLAST
    Alternative sequencei580 – 63556Missing in isoform 2. 1 PublicationVSP_001735Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M90102 mRNA. Translation: AAA69971.1.
    M90103 mRNA. Translation: AAA69972.1.
    U68162
    , U68159, U68160, U68161 Genomic DNA. Translation: AAB08424.1.
    U68162
    , U68159, U68160, U68161 Genomic DNA. Translation: AAB08425.1.
    AL139289 Genomic DNA. Translation: CAI23380.1.
    CH471059 Genomic DNA. Translation: EAX07103.1.
    CCDSiCCDS483.1. [P40238-1]
    PIRiA45266.
    B45266.
    RefSeqiNP_005364.1. NM_005373.2. [P40238-1]
    UniGeneiHs.82906.

    Genome annotation databases

    EnsembliENST00000372470; ENSP00000361548; ENSG00000117400. [P40238-1]
    GeneIDi4352.
    KEGGihsa:4352.
    UCSCiuc001ciw.3. human. [P40238-1]

    Polymorphism databases

    DMDMi730980.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M90102 mRNA. Translation: AAA69971.1 .
    M90103 mRNA. Translation: AAA69972.1 .
    U68162
    , U68159 , U68160 , U68161 Genomic DNA. Translation: AAB08424.1 .
    U68162
    , U68159 , U68160 , U68161 Genomic DNA. Translation: AAB08425.1 .
    AL139289 Genomic DNA. Translation: CAI23380.1 .
    CH471059 Genomic DNA. Translation: EAX07103.1 .
    CCDSi CCDS483.1. [P40238-1 ]
    PIRi A45266.
    B45266.
    RefSeqi NP_005364.1. NM_005373.2. [P40238-1 ]
    UniGenei Hs.82906.

    3D structure databases

    ProteinModelPortali P40238.
    SMRi P40238. Positions 22-169.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110492. 6 interactions.
    DIPi DIP-5730N.
    IntActi P40238. 1 interaction.
    STRINGi 9606.ENSP00000361548.

    Chemistry

    BindingDBi P40238.
    ChEMBLi CHEMBL1864.
    GuidetoPHARMACOLOGYi 1722.

    PTM databases

    PhosphoSitei P40238.

    Polymorphism databases

    DMDMi 730980.

    Proteomic databases

    PaxDbi P40238.
    PRIDEi P40238.

    Protocols and materials databases

    DNASUi 4352.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372470 ; ENSP00000361548 ; ENSG00000117400 . [P40238-1 ]
    GeneIDi 4352.
    KEGGi hsa:4352.
    UCSCi uc001ciw.3. human. [P40238-1 ]

    Organism-specific databases

    CTDi 4352.
    GeneCardsi GC01P043803.
    HGNCi HGNC:7217. MPL.
    HPAi CAB002011.
    HPA007619.
    MIMi 159530. gene.
    254450. phenotype.
    601977. phenotype.
    604498. phenotype.
    neXtProti NX_P40238.
    Orphaneti 3319. Congenital amegakaryocytic thrombocytopenia.
    3318. Essential thrombocythemia.
    71493. Familial thrombocytosis.
    824. Myelofibrosis with myeloid metaplasia.
    729. Polycythemia vera.
    PharmGKBi PA30923.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39882.
    HOGENOMi HOG000138191.
    HOVERGENi HBG000085.
    InParanoidi P40238.
    KOi K05082.
    OMAi QETCYQL.
    PhylomeDBi P40238.
    TreeFami TF336573.

    Enzyme and pathway databases

    Reactomei REACT_278. Platelet Aggregation (Plug Formation).
    SignaLinki P40238.

    Miscellaneous databases

    GeneWikii Thrombopoietin_receptor.
    GenomeRNAii 4352.
    NextBioi 17122.
    PROi P40238.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P40238.
    Bgeei P40238.
    CleanExi HS_MPL.
    Genevestigatori P40238.

    Family and domain databases

    Gene3Di 2.60.40.10. 4 hits.
    InterProi IPR003961. Fibronectin_type3.
    IPR015152. Growth/epo_recpt_lig-bind.
    IPR013783. Ig-like_fold.
    IPR003528. Long_hematopoietin_rcpt_CS.
    [Graphical view ]
    Pfami PF09067. EpoR_lig-bind. 1 hit.
    PF00041. fn3. 1 hit.
    [Graphical view ]
    SMARTi SM00060. FN3. 2 hits.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 4 hits.
    PROSITEi PS50853. FN3. 2 hits.
    PS01352. HEMATOPO_REC_L_F1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of MPL, the human homolog of the v-mpl oncogene: identification of a member of the hematopoietic growth factor receptor superfamily."
      Vigon I., Mornon J.-P., Cocault L., Mitjavila M.-T., Tambourin P., Gisselbrecht S., Souyri M.
      Proc. Natl. Acad. Sci. U.S.A. 89:5640-5644(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    2. Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 2).
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Ubiquitination and degradation of the thrombopoietin receptor c-Mpl."
      Saur S.J., Sangkhae V., Geddis A.E., Kaushansky K., Hitchcock I.S.
      Blood 115:1254-1263(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION AT LYS-553 AND LYS573.
    6. Cited for: VARIANTS VAL-58 AND LYS-168.
    7. "Cloning and characterization of a family of proteins associated with Mpl."
      Meunier C.F., Bordereaux D., Porteu F., Gisselbrecht S., Chretien S., Courtois G.
      J. Biol. Chem. 277:9139-9147(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ATXN2L.
    8. "Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin."
      Ding J., Komatsu H., Wakita A., Kato-Uranishi M., Ito M., Satoh A., Tsuboi K., Nitta M., Miyazaki H., Iida S., Ueda R.
      Blood 103:4198-4200(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT THCYT2 ASN-505.
    9. Cited for: VARIANT ASN-39, CHARACTERIZATION OF VARIANT ASN-39.
    10. Cited for: VARIANT MMM LYS-515.
    11. Cited for: VARIANT MMM LEU-515, CHARACTERIZATION OF VARIANT MMM LEU-515.
    12. "The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity."
      Ding J., Komatsu H., Iida S., Yano H., Kusumoto S., Inagaki A., Mori F., Ri M., Ito A., Wakita A., Ishida T., Nitta M., Ueda R.
      Blood 114:3325-3328(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT THCYT2 ASN-505.
    13. Cited for: VARIANT THCYT2 LEU-515.

    Entry informationi

    Entry nameiTPOR_HUMAN
    AccessioniPrimary (citable) accession number: P40238
    Secondary accession number(s): Q5JUZ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: February 1, 1995
    Last modified: October 1, 2014
    This is version 150 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Caution

    It is uncertain whether Met-1 or Met-8 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3