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Q99062

- CSF3R_HUMAN

UniProt

Q99062 - CSF3R_HUMAN

Protein

Granulocyte colony-stimulating factor receptor

Gene

CSF3R

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 1 (01 Feb 1995)
      Previous versions | rss
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    Functioni

    Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.1 Publication

    GO - Molecular functioni

    1. cytokine receptor activity Source: InterPro
    2. protein binding Source: IntAct
    3. receptor activity Source: ProtInc

    GO - Biological processi

    1. cell adhesion Source: UniProtKB-KW
    2. defense response Source: ProtInc
    3. neutrophil chemotaxis Source: Ensembl
    4. odontogenesis of dentin-containing tooth Source: Ensembl
    5. signal transduction Source: ProtInc

    Keywords - Molecular functioni

    Receptor

    Keywords - Biological processi

    Cell adhesion

    Enzyme and pathway databases

    SignaLinkiQ99062.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Granulocyte colony-stimulating factor receptor
    Short name:
    G-CSF receptor
    Short name:
    G-CSF-R
    Alternative name(s):
    CD_antigen: CD114
    Gene namesi
    Name:CSF3R
    Synonyms:GCSFR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2439. CSF3R.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell
    2. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi162830. phenotype.
    Orphaneti98824. Atypical chronic myeloid leukemia.
    86829. Chronic neutrophilic leukemia.
    279943. Hereditary neutrophilia.
    PharmGKBiPA26942.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Add
    BLAST
    Chaini25 – 836812Granulocyte colony-stimulating factor receptorPRO_0000010874Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi26 ↔ 521 Publication
    Disulfide bondi46 ↔ 1011 Publication
    Glycosylationi51 – 511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi93 – 931N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi128 – 1281N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi131 ↔ 1421 Publication
    Glycosylationi134 – 1341N-linked (GlcNAc...)1 Publication
    Disulfide bondi167 ↔ 2181 Publication
    Disulfide bondi177 ↔ 1861 Publication
    Disulfide bondi248 ↔ 2951 Publication
    Disulfide bondi266 ↔ 3091 Publication
    Glycosylationi389 – 3891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi474 – 4741N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi579 – 5791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi610 – 6101N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ99062.
    PRIDEiQ99062.

    PTM databases

    PhosphoSiteiQ99062.

    Expressioni

    Tissue specificityi

    One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U-937 cell line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia U-937 cells. Isoform GCSFR-3 is highly expressed in placenta.

    Gene expression databases

    ArrayExpressiQ99062.
    BgeeiQ99062.
    CleanExiHS_CSF3R.
    GenevestigatoriQ99062.

    Organism-specific databases

    HPAiCAB017116.
    HPA048086.

    Interactioni

    Subunit structurei

    Homodimer. The dimeric receptor binds two CSF3 molecules.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    STAT3P407634EBI-7331284,EBI-518675
    UBCP0CG482EBI-7331284,EBI-3390054

    Protein-protein interaction databases

    BioGridi107828. 14 interactions.
    DIPiDIP-5788N.
    IntActiQ99062. 2 interactions.
    MINTiMINT-4787360.
    STRINGi9606.ENSP00000342623.

    Structurei

    Secondary structure

    1
    836
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi29 – 324
    Beta strandi34 – 363
    Beta strandi42 – 465
    Beta strandi62 – 676
    Beta strandi79 – 813
    Beta strandi85 – 906
    Beta strandi94 – 11926
    Beta strandi127 – 1348
    Turni135 – 1384
    Beta strandi139 – 1457
    Beta strandi155 – 1628
    Beta strandi174 – 1774
    Beta strandi184 – 1896
    Helixi190 – 1923
    Beta strandi195 – 1973
    Beta strandi199 – 2079
    Beta strandi210 – 2134
    Beta strandi217 – 2193
    Helixi221 – 2244
    Beta strandi231 – 2344
    Beta strandi249 – 2546
    Helixi257 – 2593
    Beta strandi264 – 27512
    Beta strandi280 – 2856
    Beta strandi289 – 2946
    Beta strandi303 – 3119
    Beta strandi325 – 3273

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1AZ7model-A125-331[»]
    2D9QX-ray2.80B25-332[»]
    ProteinModelPortaliQ99062.
    SMRiQ99062. Positions 23-618.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ99062.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini25 – 627603ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini651 – 836186CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei628 – 65023HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini25 – 11793Ig-like C2-typeAdd
    BLAST
    Domaini125 – 230106Fibronectin type-III 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini233 – 332100Fibronectin type-III 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini334 – 43097Fibronectin type-III 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini431 – 52898Fibronectin type-III 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini530 – 62394Fibronectin type-III 5PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi318 – 3225WSXWS motif
    Motifi658 – 6669Box 1 motif

    Domaini

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

    Sequence similaritiesi

    Contains 5 fibronectin type-III domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG29566.
    HOGENOMiHOG000231142.
    HOVERGENiHBG051130.
    KOiK05061.
    OMAiYLRCDST.
    OrthoDBiEOG7FXZXN.
    PhylomeDBiQ99062.
    TreeFamiTF338122.

    Family and domain databases

    Gene3Di2.60.40.10. 6 hits.
    InterProiIPR003961. Fibronectin_type3.
    IPR003529. Hematopoietin_rcpt_Gp130_CS.
    IPR013783. Ig-like_fold.
    IPR010457. IgC2-like_lig-bd.
    [Graphical view]
    PfamiPF00041. fn3. 1 hit.
    PF06328. Lep_receptor_Ig. 1 hit.
    [Graphical view]
    SMARTiSM00060. FN3. 5 hits.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 4 hits.
    PROSITEiPS50853. FN3. 5 hits.
    PS01353. HEMATOPO_REC_L_F2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.

    Isoform 1 (identifier: Q99062-1) [UniParc]FASTAAdd to Basket

    Also known as: GCSFR-1

    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

    MARLGNCSLT WAALIILLLP GSLEECGHIS VSAPIVHLGD PITASCIIKQ    50
    NCSHLDPEPQ ILWRLGAELQ PGGRQQRLSD GTQESIITLP HLNHTQAFLS 100
    CCLNWGNSLQ ILDQVELRAG YPPAIPHNLS CLMNLTTSSL ICQWEPGPET 150
    HLPTSFTLKS FKSRGNCQTQ GDSILDCVPK DGQSHCCIPR KHLLLYQNMG 200
    IWVQAENALG TSMSPQLCLD PMDVVKLEPP MLRTMDPSPE AAPPQAGCLQ 250
    LCWEPWQPGL HINQKCELRH KPQRGEASWA LVGPLPLEAL QYELCGLLPA 300
    TAYTLQIRCI RWPLPGHWSD WSPSLELRTT ERAPTVRLDT WWRQRQLDPR 350
    TVQLFWKPVP LEEDSGRIQG YVVSWRPSGQ AGAILPLCNT TELSCTFHLP 400
    SEAQEVALVA YNSAGTSRPT PVVFSESRGP ALTRLHAMAR DPHSLWVGWE 450
    PPNPWPQGYV IEWGLGPPSA SNSNKTWRME QNGRATGFLL KENIRPFQLY 500
    EIIVTPLYQD TMGPSQHVYA YSQEMAPSHA PELHLKHIGK TWAQLEWVPE 550
    PPELGKSPLT HYTIFWTNAQ NQSFSAILNA SSRGFVLHGL EPASLYHIHL 600
    MAASQAGATN STVLTLMTLT PEGSELHIIL GLFGLLLLLT CLCGTAWLCC 650
    SPNRKNPLWP SVPDPAHSSL GSWVPTIMEE DAFQLPGLGT PPITKLTVLE 700
    EDEKKPVPWE SHNSSETCGL PTLVQTYVLQ GDPRAVSTQP QSQSGTSDQV 750
    LYGQLLGSPT SPGPGHYLRC DSTQPLLAGL TPSPKSYENL WFQASPLGTL 800
    VTPAPSQEDD CVFGPLLNFP LLQGIRVHGM EALGSF 836
    Length:836
    Mass (Da):92,156
    Last modified:February 1, 1995 - v1
    Checksum:i3531ADDC979D4BC3
    GO
    Isoform 2 (identifier: Q99062-2) [UniParc]FASTAAdd to Basket

    Also known as: GCSFR-2

    The sequence of this isoform differs from the canonical sequence as follows:
         622-836: EGSELHIILG...VHGMEALGSF → APTGRIPSGQ...GSRPAPWGPW

    Show »
    Length:771
    Mass (Da):85,120
    Checksum:i2483E94E3A57322A
    GO
    Isoform 3 (identifier: Q99062-3) [UniParc]FASTAAdd to Basket

    Also known as: GCSFR-3

    The sequence of this isoform differs from the canonical sequence as follows:
         680-680: E → ELPGPRQGQWLGQTSEMSRALTPHPCVQ

    Show »
    Length:863
    Mass (Da):95,114
    Checksum:i6951B4F2C9FED675
    GO
    Isoform 4 (identifier: Q99062-4) [UniParc]FASTAAdd to Basket

    Also known as: GCSFR-4, D7

    The sequence of this isoform differs from the canonical sequence as follows:
         750-783: VLYGQLLGSPTSPGPGHYLRCDSTQPLLAGLTPS → AGPPRRSAYFKDQIMLHPAPPNGLLCLFPITSVL
         784-836: Missing.

    Show »
    Length:783
    Mass (Da):86,609
    Checksum:i9D85EC2298D42BF3
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti229 – 2291P → H in a patient with severe congenital neutropenia hyporesponsive to CSF3 treatment; affects CSF3 mediated proliferation and survival of myeloid cells; abrogates receptor signaling by altering ligand binding. 1 Publication
    VAR_062517
    Natural varianti231 – 2311M → T.1 Publication
    Corresponds to variant rs3917973 [ dbSNP | Ensembl ].
    VAR_014325
    Natural varianti320 – 3201D → N.1 Publication
    Corresponds to variant rs3918018 [ dbSNP | Ensembl ].
    VAR_014326
    Natural varianti346 – 3461Q → R.1 Publication
    Corresponds to variant rs3917974 [ dbSNP | Ensembl ].
    VAR_014327
    Natural varianti405 – 4051E → K.1 Publication
    Corresponds to variant rs3918019 [ dbSNP | Ensembl ].
    VAR_014328
    Natural varianti440 – 4401R → Q.1 Publication
    Corresponds to variant rs3918020 [ dbSNP | Ensembl ].
    VAR_014329
    Natural varianti510 – 5101D → H.1 Publication
    Corresponds to variant rs3917991 [ dbSNP | Ensembl ].
    VAR_014330
    Natural varianti562 – 5621Y → H.1 Publication
    Corresponds to variant rs3917996 [ dbSNP | Ensembl ].
    VAR_014331
    Natural varianti583 – 5831R → C.1 Publication
    Corresponds to variant rs3917997 [ dbSNP | Ensembl ].
    VAR_014332
    Natural varianti640 – 6401T → N in neutrophilia. 1 Publication
    Corresponds to variant rs121918426 [ dbSNP | Ensembl ].
    VAR_063065

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei622 – 836215EGSEL…ALGSF → APTGRIPSGQVSQTQLTAAW APGCPQSWRRMPSSCPALAR HPSPSSQCWRRMKRSRCPGS PITAQRPVASPLWSRPMCSR GTQEQFPPSPNPSLAPAIRS FMGSCWAAPQAQGQGTISAV TPLSPSWRASPPAPSPMRTS GSRPAPWGPW in isoform 2. 1 PublicationVSP_001674Add
    BLAST
    Alternative sequencei680 – 6801E → ELPGPRQGQWLGQTSEMSRA LTPHPCVQ in isoform 3. 1 PublicationVSP_001673
    Alternative sequencei750 – 78334VLYGQ…GLTPS → AGPPRRSAYFKDQIMLHPAP PNGLLCLFPITSVL in isoform 4. 1 PublicationVSP_001671Add
    BLAST
    Alternative sequencei784 – 83653Missing in isoform 4. 1 PublicationVSP_001672Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X55721 mRNA. Translation: CAA39253.1.
    X55720 mRNA. Translation: CAA39252.1.
    M59818 mRNA. Translation: AAA63176.1.
    M59819 mRNA. Translation: AAA63177.1.
    M59820 mRNA. Translation: AAA63178.1.
    S71484 Genomic DNA. Translation: AAB20660.1.
    AY148100 Genomic DNA. Translation: AAN05790.1.
    BC053585 mRNA. Translation: AAH53585.1.
    CCDSiCCDS412.1. [Q99062-4]
    CCDS413.1. [Q99062-1]
    CCDS414.1. [Q99062-3]
    PIRiB38252.
    C38252.
    JH0329.
    RefSeqiNP_000751.1. NM_000760.3. [Q99062-1]
    NP_724781.1. NM_156039.3. [Q99062-3]
    NP_758519.1. NM_172313.2. [Q99062-4]
    UniGeneiHs.524517.

    Genome annotation databases

    EnsembliENST00000331941; ENSP00000332180; ENSG00000119535. [Q99062-4]
    ENST00000361632; ENSP00000355406; ENSG00000119535. [Q99062-1]
    ENST00000373103; ENSP00000362195; ENSG00000119535. [Q99062-3]
    ENST00000373104; ENSP00000362196; ENSG00000119535. [Q99062-4]
    ENST00000373106; ENSP00000362198; ENSG00000119535. [Q99062-1]
    GeneIDi1441.
    KEGGihsa:1441.
    UCSCiuc001cav.2. human. [Q99062-4]
    uc001caw.2. human. [Q99062-1]
    uc001cax.2. human. [Q99062-3]

    Polymorphism databases

    DMDMi729564.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X55721 mRNA. Translation: CAA39253.1 .
    X55720 mRNA. Translation: CAA39252.1 .
    M59818 mRNA. Translation: AAA63176.1 .
    M59819 mRNA. Translation: AAA63177.1 .
    M59820 mRNA. Translation: AAA63178.1 .
    S71484 Genomic DNA. Translation: AAB20660.1 .
    AY148100 Genomic DNA. Translation: AAN05790.1 .
    BC053585 mRNA. Translation: AAH53585.1 .
    CCDSi CCDS412.1. [Q99062-4 ]
    CCDS413.1. [Q99062-1 ]
    CCDS414.1. [Q99062-3 ]
    PIRi B38252.
    C38252.
    JH0329.
    RefSeqi NP_000751.1. NM_000760.3. [Q99062-1 ]
    NP_724781.1. NM_156039.3. [Q99062-3 ]
    NP_758519.1. NM_172313.2. [Q99062-4 ]
    UniGenei Hs.524517.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1AZ7 model - A 125-331 [» ]
    2D9Q X-ray 2.80 B 25-332 [» ]
    ProteinModelPortali Q99062.
    SMRi Q99062. Positions 23-618.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107828. 14 interactions.
    DIPi DIP-5788N.
    IntActi Q99062. 2 interactions.
    MINTi MINT-4787360.
    STRINGi 9606.ENSP00000342623.

    Chemistry

    BindingDBi Q99062.
    ChEMBLi CHEMBL1996.
    DrugBanki DB00099. Filgrastim.
    DB00019. Pegfilgrastim.
    GuidetoPHARMACOLOGYi 1719.

    PTM databases

    PhosphoSitei Q99062.

    Polymorphism databases

    DMDMi 729564.

    Proteomic databases

    PaxDbi Q99062.
    PRIDEi Q99062.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331941 ; ENSP00000332180 ; ENSG00000119535 . [Q99062-4 ]
    ENST00000361632 ; ENSP00000355406 ; ENSG00000119535 . [Q99062-1 ]
    ENST00000373103 ; ENSP00000362195 ; ENSG00000119535 . [Q99062-3 ]
    ENST00000373104 ; ENSP00000362196 ; ENSG00000119535 . [Q99062-4 ]
    ENST00000373106 ; ENSP00000362198 ; ENSG00000119535 . [Q99062-1 ]
    GeneIDi 1441.
    KEGGi hsa:1441.
    UCSCi uc001cav.2. human. [Q99062-4 ]
    uc001caw.2. human. [Q99062-1 ]
    uc001cax.2. human. [Q99062-3 ]

    Organism-specific databases

    CTDi 1441.
    GeneCardsi GC01M036931.
    HGNCi HGNC:2439. CSF3R.
    HPAi CAB017116.
    HPA048086.
    MIMi 138971. gene.
    162830. phenotype.
    neXtProti NX_Q99062.
    Orphaneti 98824. Atypical chronic myeloid leukemia.
    86829. Chronic neutrophilic leukemia.
    279943. Hereditary neutrophilia.
    PharmGKBi PA26942.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG29566.
    HOGENOMi HOG000231142.
    HOVERGENi HBG051130.
    KOi K05061.
    OMAi YLRCDST.
    OrthoDBi EOG7FXZXN.
    PhylomeDBi Q99062.
    TreeFami TF338122.

    Enzyme and pathway databases

    SignaLinki Q99062.

    Miscellaneous databases

    ChiTaRSi CSF3R. human.
    EvolutionaryTracei Q99062.
    GeneWikii Granulocyte_colony-stimulating_factor_receptor.
    GenomeRNAii 1441.
    NextBioi 5901.
    PROi Q99062.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99062.
    Bgeei Q99062.
    CleanExi HS_CSF3R.
    Genevestigatori Q99062.

    Family and domain databases

    Gene3Di 2.60.40.10. 6 hits.
    InterProi IPR003961. Fibronectin_type3.
    IPR003529. Hematopoietin_rcpt_Gp130_CS.
    IPR013783. Ig-like_fold.
    IPR010457. IgC2-like_lig-bd.
    [Graphical view ]
    Pfami PF00041. fn3. 1 hit.
    PF06328. Lep_receptor_Ig. 1 hit.
    [Graphical view ]
    SMARTi SM00060. FN3. 5 hits.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 4 hits.
    PROSITEi PS50853. FN3. 5 hits.
    PS01353. HEMATOPO_REC_L_F2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression cloning of a human granulocyte colony-stimulating factor receptor: a structural mosaic of hematopoietin receptor, immunoglobulin, and fibronectin domains."
      Larsen A., Davis T., Curtis B.M., Gimpel S., Sims J.E., Cosman D., Park L., Sorensen E., March C.J., Smith C.A.
      J. Exp. Med. 172:1559-1570(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4).
      Tissue: Placenta.
    2. "Three different mRNAs encoding human granulocyte colony-stimulating factor receptor."
      Fukunaga R., Seto Y., Mizushima S., Nagata S.
      Proc. Natl. Acad. Sci. U.S.A. 87:8702-8706(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
      Tissue: Placenta.
    3. "Chromosomal gene organization of the human granulocyte colony-stimulating factor receptor."
      Seto Y., Fukunaga R., Nagata S.
      J. Immunol. 148:259-266(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. SeattleSNPs variation discovery resource
      Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-231; ASN-320; ARG-346; LYS-405; GLN-440; HIS-510; HIS-562 AND CYS-583.
    5. "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: Blood.
    6. "Extracellular domain of granulocyte-colony stimulating factor receptor. Interaction with its ligand and identification of a domain in close proximity of ligand-binding region."
      Haniu M., Horan T., Arakawa T., Le J., Katta V., Rohde M.F.
      Arch. Biochem. Biophys. 324:344-356(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 234-269.
    7. "Functional domains of the granulocyte colony-stimulating factor receptor."
      Fukunaga R., Ishizaka-Ikeda E., Pan C.-X., Seto Y., Nagata S.
      EMBO J. 10:2855-2865(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: DOMAINS.
    8. "Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia."
      Dong F., Hoefsloot L.H., Schelen A.M., Broeders C.A., Meijer Y., Veerman A.J., Touw I.P., Lowenberg B.
      Proc. Natl. Acad. Sci. U.S.A. 91:4480-4484(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, POSSIBLE ASSOCIATION WITH SCN.
    9. "Granulocyte colony-stimulating factor and its receptor in normal myeloid cell development, leukemia and related blood cell disorders."
      Touw I.P., van de Geijn G.J.
      Front. Biosci. 12:800-815(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    10. "Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia."
      Zeidler C., Germeshausen M., Klein C., Welte K.
      Br. J. Haematol. 144:459-467(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: POSSIBLE ASSOCIATION WITH SCN.
    11. "Solution structure of an extracellular domain containing the WSxWS motif of the granulocyte colony-stimulating factor receptor and its interaction with ligand."
      Yamasaki K., Naito S., Anaguchi H., Ohkubo T., Ota Y.
      Nat. Struct. Biol. 4:498-504(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 227-334.
    12. "Identification of a ligand-binding site on the granulocyte colony-stimulating factor receptor by molecular modeling and mutagenesis."
      Layton J.E., Iaria J., Smith D.K., Treutlein H.R.
      J. Biol. Chem. 272:29735-29741(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: 3D-STRUCTURE MODELING OF 125-331.
    13. "Homodimeric cross-over structure of the human granulocyte colony-stimulating factor (GCSF) receptor signaling complex."
      Tamada T., Honjo E., Maeda Y., Okamoto T., Ishibashi M., Tokunaga M., Kuroki R.
      Proc. Natl. Acad. Sci. U.S.A. 103:3135-3140(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 25-333 IN COMPLEX WITH CSF3, GLYCOSYLATION AT ASN-134, DISULFIDE BONDS, SUBUNIT.
    14. "Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment."
      Ward A.C., van Aesch Y.M., Gits J., Schelen A.M., de Koning J.P., van Leeuwen D., Freedman M.H., Touw I.P.
      J. Exp. Med. 190:497-507(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HIS-229, CHARACTERIZATION OF VARIANT HIS-229, POSSIBLE ASSOCIATION WITH SCN.
    15. Cited for: VARIANT NEUTROPHILIA ASN-640.

    Entry informationi

    Entry nameiCSF3R_HUMAN
    AccessioniPrimary (citable) accession number: Q99062
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: February 1, 1995
    Last modified: October 1, 2014
    This is version 156 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

    Mutations in CSF3R acquired in multipotent hematopoietic progenitor cells and resulting in truncated hyper-responsive forms of the receptor, have been identified in most cases of severe congenital neutropenia (SCN). Patients carrying these mutations are at risk for developing myelodysplastic syndromes and/or acute myeloid leukemia. Constitutive mutations leading to hyporesponsive forms of the receptor are responsible for the refractoriness to CSF3 treatment observed in some SCN patients.

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

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