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P15509

- CSF2R_HUMAN

UniProt

P15509 - CSF2R_HUMAN

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Protein
Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
Gene
CSF2RA, CSF2R, CSF2RY
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.

GO - Molecular functioni

  1. cytokine receptor activity Source: InterPro
  2. receptor activity Source: ProtInc
Complete GO annotation...

GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_23837. Interleukin-3, 5 and GM-CSF signaling.
    REACT_23891. Interleukin receptor SHC signaling.
    SignaLinkiP15509.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
    Short name:
    GM-CSF-R-alpha
    Short name:
    GMCSFR-alpha
    Short name:
    GMR-alpha
    Alternative name(s):
    CDw116
    CD_antigen: CD116
    Gene namesi
    Name:CSF2RA
    Synonyms:CSF2R, CSF2RY
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:2435. CSF2RA.

    Subcellular locationi

    Isoform 3 : Secreted Inferred
    Isoform 4 : Secreted Inferred
    Isoform 6 : Secreted Inferred

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini23 – 320298Extracellular Reviewed prediction
    Add
    BLAST
    Transmembranei321 – 34626Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini347 – 40054Cytoplasmic Reviewed prediction
    Add
    BLAST

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell
    2. integral component of plasma membrane Source: ProtInc
    3. plasma membrane Source: Reactome
    Complete GO annotation...

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770]: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.
    Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti196 – 1961G → R in SMDP4. 1 Publication
    VAR_058507

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi300770. phenotype.
    Orphaneti264675. Congenital pulmonary alveolar proteinosis.
    PharmGKBiPA26938.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222
    Add
    BLAST
    Chaini23 – 400378Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
    PRO_0000010872Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi46 – 461N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi54 – 541N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi99 – 991N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi123 – 1231N-linked (GlcNAc...) Reviewed prediction
    Disulfide bondi126 ↔ 136 By similarity
    Glycosylationi135 – 1351N-linked (GlcNAc...) Reviewed prediction
    Disulfide bondi165 ↔ 178 By similarity
    Glycosylationi182 – 1821N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi195 – 1951N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi223 – 2231N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi229 – 2291N-linked (GlcNAc...)1 Publication
    Glycosylationi272 – 2721N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi305 – 3051N-linked (GlcNAc...) Reviewed prediction

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP15509.
    PaxDbiP15509.
    PRIDEiP15509.

    PTM databases

    PhosphoSiteiP15509.

    Expressioni

    Gene expression databases

    ArrayExpressiP15509.
    BgeeiP15509.
    CleanExiHS_CSF2RA.
    GenevestigatoriP15509.

    Organism-specific databases

    HPAiCAB016148.

    Interactioni

    Subunit structurei

    Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSF receptors. The signaling GM-CSF receptor complex is a dodecamer of two head-to-head hexamers of two alpha, two beta, and two ligand subunits.1 Publication

    Protein-protein interaction databases

    BioGridi107825. 4 interactions.
    DIPiDIP-635N.
    IntActiP15509. 2 interactions.
    MINTiMINT-7242386.
    STRINGi9606.ENSP00000370935.

    Structurei

    Secondary structure

    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi226 – 2283
    Beta strandi230 – 2356
    Beta strandi249 – 2546
    Beta strandi269 – 2713
    Beta strandi275 – 2773
    Beta strandi295 – 3006

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3CXEX-ray3.30C218-300[»]
    ProteinModelPortaliP15509.
    SMRiP15509. Positions 110-316.

    Miscellaneous databases

    EvolutionaryTraceiP15509.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini220 – 320101Fibronectin type-III
    Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi306 – 3105WSXWS motif
    Motifi355 – 3639Box 1 motif

    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

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG74889.
    HOGENOMiHOG000004539.
    HOVERGENiHBG103561.
    KOiK05066.
    OMAiNTTYLEC.
    OrthoDBiEOG73BVCJ.
    PhylomeDBiP15509.
    TreeFamiTF331549.

    Family and domain databases

    Gene3Di2.60.40.10. 2 hits.
    InterProiIPR003961. Fibronectin_type3.
    IPR013783. Ig-like_fold.
    IPR015321. IL-6_rcpt_alpha-bd.
    IPR003532. Short_hematopoietin_rcpt_2_CS.
    [Graphical view]
    PfamiPF09240. IL6Ra-bind. 1 hit.
    [Graphical view]
    SMARTiSM00060. FN3. 1 hit.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 2 hits.
    PROSITEiPS50853. FN3. 1 hit.
    PS01356. HEMATOPO_REC_S_F2. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

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

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P15509-1) [UniParc]FASTAAdd to Basket

    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

    MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD    50
    CQENTTFSKC FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT 100
    SQRGFQQKLL YPNSGREGTA AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY 150
    FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL DNLSGLTSRN YFLVNGTSRE 200
    IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP RTYQKLSYLD 250
    FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD 300
    VRILNWSSWS EAIEFGSDDG NLGSVYIYVL LIVGTLVCGI VLGFLFKRFL 350
    RIQRLFPPVP QIKDKLNDNH EVEDEIIWEE FTPEEGKGYR EEVLTVKEIT 400
    Length:400
    Mass (Da):46,207
    Last modified:April 1, 1990 - v1
    Checksum:iD9025B981E41311D
    GO
    Isoform 2 (identifier: P15509-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         376-400: IIWEEFTPEEGKGYREEVLTVKEIT → MGPQRHHRCGWNLYPTPGPSPGSGSSPRLGSESSL

    Show »
    Length:410
    Mass (Da):46,901
    Checksum:iC95FD645760C19DB
    GO
    Isoform 3 (identifier: P15509-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         318-333: DDGNLGSVYIYVLLIV → LGYSGCSRQFHRSKTN
         334-400: Missing.

    Show »
    Length:333
    Mass (Da):38,439
    Checksum:i8F13C90D460D6255
    GO
    Isoform 4 (identifier: P15509-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         271-286: INVSGDLENRYNFPSS → VVLTTGTSALCTFMCS
         287-400: Missing.

    Show »
    Length:286
    Mass (Da):32,915
    Checksum:i4222498F3A1F31F1
    GO
    Isoform 5 (identifier: P15509-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         316-400: GSDDGNLGSV...EEVLTVKEIT → DHLGGIHPRG...NLYIIFYVFI

    Show »
    Length:377
    Mass (Da):43,545
    Checksum:iCAC52B3055225400
    GO
    Isoform 6 (identifier: P15509-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         216-233: ERFNPPSNVTVRCNTTHC → GSLGYSGCSRQFHRSKTN
         234-400: Missing.

    Show »
    Length:233
    Mass (Da):26,648
    Checksum:iE73741ADEDD70478
    GO
    Isoform 7 (identifier: P15509-7) [UniParc]FASTAAdd to Basket

    Also known as: Alu-GMRalpha

    The sequence of this isoform differs from the canonical sequence as follows:
         315-315: F → FGSHSVTQAGVQWHNLGSLQPPSPRLKRFSCLRLP

    Show »
    Length:434
    Mass (Da):49,944
    Checksum:i8190BD7AF28C93EC
    GO
    Isoform 8 (identifier: P15509-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-133: Missing.

    Show »
    Length:267
    Mass (Da):31,101
    Checksum:iFBF60C31AC0E0B3A
    GO

    Sequence cautioni

    The sequence AAA60962.1 differs from that shown. Reason:

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti196 – 1961G → R in SMDP4. 1 Publication
    VAR_058507

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 133133Missing in isoform 8.
    VSP_044272Add
    BLAST
    Alternative sequencei216 – 23318ERFNP…NTTHC → GSLGYSGCSRQFHRSKTN in isoform 6.
    VSP_001663Add
    BLAST
    Alternative sequencei234 – 400167Missing in isoform 6.
    VSP_001664Add
    BLAST
    Alternative sequencei271 – 28616INVSG…NFPSS → VVLTTGTSALCTFMCS in isoform 4.
    VSP_001665Add
    BLAST
    Alternative sequencei287 – 400114Missing in isoform 4.
    VSP_001666Add
    BLAST
    Alternative sequencei315 – 3151F → FGSHSVTQAGVQWHNLGSLQ PPSPRLKRFSCLRLP in isoform 7.
    VSP_043715
    Alternative sequencei316 – 40085GSDDG…VKEIT → DHLGGIHPRGRERLPRRGLD REGNYLRPRGCRNGMDISAS ATRGNCFLDDAVNLYIIFYV FI in isoform 5.
    VSP_001667Add
    BLAST
    Alternative sequencei318 – 33316DDGNL…VLLIV → LGYSGCSRQFHRSKTN in isoform 3.
    VSP_001668Add
    BLAST
    Alternative sequencei334 – 40067Missing in isoform 3.
    VSP_001669Add
    BLAST
    Alternative sequencei376 – 40025IIWEE…VKEIT → MGPQRHHRCGWNLYPTPGPS PGSGSSPRLGSESSL in isoform 2.
    VSP_001670Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X17648 mRNA. Translation: CAA35638.1.
    D26628 Genomic DNA. Translation: BAA05656.1.
    M64445 mRNA. Translation: AAA35908.1.
    X54935 mRNA. Translation: CAA38697.1.
    M73832 mRNA. Translation: AAA35909.1.
    L29348 mRNA. Translation: AAA60961.1.
    L29349 mRNA. Translation: AAA60962.1. Sequence problems.
    U93096 mRNA. Translation: AAB51535.1.
    DQ841258 mRNA. Translation: ABI32309.1.
    AK293086 mRNA. Translation: BAF85775.1.
    AK301395 mRNA. Translation: BAG62930.1.
    BX649553 Genomic DNA. Translation: CAI95727.1.
    BC002635 mRNA. Translation: AAH02635.1.
    BC071835 mRNA. Translation: AAH71835.1.
    CCDSiCCDS35190.1. [P15509-5]
    CCDS35191.1. [P15509-1]
    CCDS35192.1. [P15509-3]
    CCDS35193.1. [P15509-6]
    CCDS55359.1. [P15509-7]
    CCDS55360.1. [P15509-2]
    CCDS55361.1. [P15509-8]
    PIRiS06945.
    S13684.
    S50039.
    S50040.
    RefSeqiNP_001155001.1. NM_001161529.1. [P15509-1]
    NP_001155002.1. NM_001161530.1. [P15509-7]
    NP_001155003.1. NM_001161531.1. [P15509-2]
    NP_001155004.1. NM_001161532.1. [P15509-8]
    NP_006131.2. NM_006140.4. [P15509-1]
    NP_758448.1. NM_172245.2. [P15509-1]
    NP_758449.1. NM_172246.2. [P15509-5]
    NP_758450.1. NM_172247.2. [P15509-3]
    NP_758452.1. NM_172249.2. [P15509-6]
    UniGeneiHs.520937.

    Genome annotation databases

    EnsembliENST00000355432; ENSP00000347606; ENSG00000198223. [P15509-5]
    ENST00000355805; ENSP00000348058; ENSG00000198223. [P15509-6]
    ENST00000361536; ENSP00000354836; ENSG00000198223. [P15509-3]
    ENST00000381500; ENSP00000370911; ENSG00000198223. [P15509-3]
    ENST00000381509; ENSP00000370920; ENSG00000198223. [P15509-2]
    ENST00000381524; ENSP00000370935; ENSG00000198223. [P15509-1]
    ENST00000381529; ENSP00000370940; ENSG00000198223. [P15509-1]
    ENST00000417535; ENSP00000394227; ENSG00000198223. [P15509-7]
    ENST00000432318; ENSP00000416437; ENSG00000198223. [P15509-1]
    ENST00000501036; ENSP00000440491; ENSG00000198223. [P15509-8]
    GeneIDi1438.
    KEGGihsa:1438.
    UCSCiuc004cpn.2. human. [P15509-1]
    uc010ncv.2. human. [P15509-7]
    uc011mhb.1. human. [P15509-2]

    Polymorphism databases

    DMDMi121509.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X17648 mRNA. Translation: CAA35638.1 .
    D26628 Genomic DNA. Translation: BAA05656.1 .
    M64445 mRNA. Translation: AAA35908.1 .
    X54935 mRNA. Translation: CAA38697.1 .
    M73832 mRNA. Translation: AAA35909.1 .
    L29348 mRNA. Translation: AAA60961.1 .
    L29349 mRNA. Translation: AAA60962.1 . Sequence problems.
    U93096 mRNA. Translation: AAB51535.1 .
    DQ841258 mRNA. Translation: ABI32309.1 .
    AK293086 mRNA. Translation: BAF85775.1 .
    AK301395 mRNA. Translation: BAG62930.1 .
    BX649553 Genomic DNA. Translation: CAI95727.1 .
    BC002635 mRNA. Translation: AAH02635.1 .
    BC071835 mRNA. Translation: AAH71835.1 .
    CCDSi CCDS35190.1. [P15509-5 ]
    CCDS35191.1. [P15509-1 ]
    CCDS35192.1. [P15509-3 ]
    CCDS35193.1. [P15509-6 ]
    CCDS55359.1. [P15509-7 ]
    CCDS55360.1. [P15509-2 ]
    CCDS55361.1. [P15509-8 ]
    PIRi S06945.
    S13684.
    S50039.
    S50040.
    RefSeqi NP_001155001.1. NM_001161529.1. [P15509-1 ]
    NP_001155002.1. NM_001161530.1. [P15509-7 ]
    NP_001155003.1. NM_001161531.1. [P15509-2 ]
    NP_001155004.1. NM_001161532.1. [P15509-8 ]
    NP_006131.2. NM_006140.4. [P15509-1 ]
    NP_758448.1. NM_172245.2. [P15509-1 ]
    NP_758449.1. NM_172246.2. [P15509-5 ]
    NP_758450.1. NM_172247.2. [P15509-3 ]
    NP_758452.1. NM_172249.2. [P15509-6 ]
    UniGenei Hs.520937.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3CXE X-ray 3.30 C 218-300 [» ]
    ProteinModelPortali P15509.
    SMRi P15509. Positions 110-316.
    ModBasei Search...

    Protein-protein interaction databases

    BioGridi 107825. 4 interactions.
    DIPi DIP-635N.
    IntActi P15509. 2 interactions.
    MINTi MINT-7242386.
    STRINGi 9606.ENSP00000370935.

    Chemistry

    ChEMBLi CHEMBL2364169.
    DrugBanki DB00020. Sargramostim.
    GuidetoPHARMACOLOGYi 1707.

    PTM databases

    PhosphoSitei P15509.

    Polymorphism databases

    DMDMi 121509.

    Proteomic databases

    MaxQBi P15509.
    PaxDbi P15509.
    PRIDEi P15509.

    Protocols and materials databases

    DNASUi 1438.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000355432 ; ENSP00000347606 ; ENSG00000198223 . [P15509-5 ]
    ENST00000355805 ; ENSP00000348058 ; ENSG00000198223 . [P15509-6 ]
    ENST00000361536 ; ENSP00000354836 ; ENSG00000198223 . [P15509-3 ]
    ENST00000381500 ; ENSP00000370911 ; ENSG00000198223 . [P15509-3 ]
    ENST00000381509 ; ENSP00000370920 ; ENSG00000198223 . [P15509-2 ]
    ENST00000381524 ; ENSP00000370935 ; ENSG00000198223 . [P15509-1 ]
    ENST00000381529 ; ENSP00000370940 ; ENSG00000198223 . [P15509-1 ]
    ENST00000417535 ; ENSP00000394227 ; ENSG00000198223 . [P15509-7 ]
    ENST00000432318 ; ENSP00000416437 ; ENSG00000198223 . [P15509-1 ]
    ENST00000501036 ; ENSP00000440491 ; ENSG00000198223 . [P15509-8 ]
    GeneIDi 1438.
    KEGGi hsa:1438.
    UCSCi uc004cpn.2. human. [P15509-1 ]
    uc010ncv.2. human. [P15509-7 ]
    uc011mhb.1. human. [P15509-2 ]

    Organism-specific databases

    CTDi 1438.
    GeneCardsi GC0XP001347.
    HGNCi HGNC:2435. CSF2RA.
    HPAi CAB016148.
    MIMi 300770. phenotype.
    306250. gene.
    425000. gene.
    neXtProti NX_P15509.
    Orphaneti 264675. Congenital pulmonary alveolar proteinosis.
    PharmGKBi PA26938.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG74889.
    HOGENOMi HOG000004539.
    HOVERGENi HBG103561.
    KOi K05066.
    OMAi NTTYLEC.
    OrthoDBi EOG73BVCJ.
    PhylomeDBi P15509.
    TreeFami TF331549.

    Enzyme and pathway databases

    Reactomei REACT_23837. Interleukin-3, 5 and GM-CSF signaling.
    REACT_23891. Interleukin receptor SHC signaling.
    SignaLinki P15509.

    Miscellaneous databases

    EvolutionaryTracei P15509.
    GenomeRNAii 1438.
    NextBioi 35534741.
    PROi P15509.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P15509.
    Bgeei P15509.
    CleanExi HS_CSF2RA.
    Genevestigatori P15509.

    Family and domain databases

    Gene3Di 2.60.40.10. 2 hits.
    InterProi IPR003961. Fibronectin_type3.
    IPR013783. Ig-like_fold.
    IPR015321. IL-6_rcpt_alpha-bd.
    IPR003532. Short_hematopoietin_rcpt_2_CS.
    [Graphical view ]
    Pfami PF09240. IL6Ra-bind. 1 hit.
    [Graphical view ]
    SMARTi SM00060. FN3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 2 hits.
    PROSITEi PS50853. FN3. 1 hit.
    PS01356. HEMATOPO_REC_S_F2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    « Hide 'large scale' publications
    1. "Expression cloning of a receptor for human granulocyte-macrophage colony-stimulating factor."
      Gearing D.P., King J.A., Gough N.M., Nicola N.A.
      EMBO J. 8:3667-3676(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Placenta.
    2. "Structure of the gene encoding the alpha subunit of the human granulocyte-macrophage colony stimulating factor receptor. Implications for the evolution of the cytokine receptor superfamily."
      Nakagawa Y., Kosugi H., Miyajima A., Arai K., Yokota T.
      J. Biol. Chem. 269:10905-10912(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    3. "A functional isoform of the human granulocyte/macrophage colony-stimulating factor receptor has an unusual cytoplasmic domain."
      Crosier K.E., Wong G.G., Mathey-Prevot B., Nathan D.G., Sieff C.A.
      Proc. Natl. Acad. Sci. U.S.A. 88:7744-7748(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    4. "Cloning of a potentially soluble receptor for human GM-CSF."
      Ashworth A., Kraft A.
      Nucleic Acids Res. 18:7178-7178(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Placenta.
    5. "Identification and molecular cloning of a soluble human granulocyte-macrophage colony-stimulating factor receptor."
      Raines M.A., Liu L., Quan S.G., Joe V., DiPersio J.F., Golde D.W.
      Proc. Natl. Acad. Sci. U.S.A. 88:8203-8207(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    6. "Cloning and sequencing of the cDNAs encoding two alternative splicing-derived variants of the alpha subunit of the granulocyte-macrophage colony-stimulating factor receptor."
      Hu X., Emanuel P.D., Zuckerman K.S.
      Biochim. Biophys. Acta 1223:306-308(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
      Tissue: Blood.
    7. "Cloning and sequencing of the cDNA variant with 397 bp missing for the GM-CSF receptor alpha subunit."
      Hu X., Zuckerman K.S.
      Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
    8. "Discovery and characterization of a novel splice variant of the GM-CSF receptor alpha subunit."
      Pelley J.L., Nicholls C.D., Beattie T.L., Brown C.B.
      Exp. Hematol. 35:1483-1494(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
    9. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 8).
      Tissue: Synovium and Uterus.
    10. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    11. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Placenta and Uterus.
    12. "Arrangement and localization of the human GM-CSF receptor alpha chain gene CSF2RA within the X-Y pseudoautosomal region."
      Rappold G., Willson T.A., Henke A., Gough N.M.
      Genomics 14:455-461(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE OF 376-400.
    13. "Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1."
      Martinez-Moczygemba M., Doan M.L., Elidemir O., Fan L.L., Cheung S.W., Lei J.T., Moore J.P., Tavana G., Lewis L.R., Zhu Y., Muzny D.M., Gibbs R.A., Huston D.P.
      J. Exp. Med. 205:2711-2716(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SMDP4.
    14. "The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation."
      Hansen G., Hercus T.R., McClure B.J., Stomski F.C., Dottore M., Powell J., Ramshaw H., Woodcock J.M., Xu Y., Guthridge M., McKinstry W.J., Lopez A.F., Parker M.W.
      Cell 134:496-507(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.3 ANGSTROMS) OF 218-320 IN COMPLEX WITH CSF2RB AND CSF2, SUBUNIT, GLYCOSYLATION AT ASN-229.
    15. Cited for: VARIANT SMDP4 ARG-196.

    Entry informationi

    Entry nameiCSF2R_HUMAN
    AccessioniPrimary (citable) accession number: P15509
    Secondary accession number(s): A7J003
    , A8KAM1, B4DW68, J3JS76, J3JS77, O00207, Q14429, Q14430, Q14431, Q16564
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: April 1, 1990
    Last modified: September 3, 2014
    This is version 157 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

    Miscellaneous

    The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.

    Keywords - Technical termi

    3D-structure, 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 X
      Human chromosome X: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3

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