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Q99062

- CSF3R_HUMAN

UniProt

Q99062 - CSF3R_HUMAN

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Protein
Granulocyte colony-stimulating factor receptor
Gene
CSF3R, GCSFR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Isoform 2 : Secreted Inferred

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 627603Extracellular Reviewed prediction
Add
BLAST
Transmembranei628 – 65023Helical; Reviewed prediction
Add
BLAST
Topological domaini651 – 836186Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 – 2424
Add
BLAST
Chaini25 – 836812Granulocyte colony-stimulating factor receptor
PRO_0000010874Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi26 ↔ 521 Publication
Disulfide bondi46 ↔ 1011 Publication
Glycosylationi51 – 511N-linked (GlcNAc...) Reviewed prediction
Glycosylationi93 – 931N-linked (GlcNAc...) Reviewed prediction
Glycosylationi128 – 1281N-linked (GlcNAc...) Reviewed prediction
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...) Reviewed prediction
Glycosylationi474 – 4741N-linked (GlcNAc...) Reviewed prediction
Glycosylationi579 – 5791N-linked (GlcNAc...) Reviewed prediction
Glycosylationi610 – 6101N-linked (GlcNAc...) Reviewed prediction

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

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.

Miscellaneous databases

EvolutionaryTraceiQ99062.

Family & Domainsi

Domains and Repeats

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

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.
VSP_001674Add
BLAST
Alternative sequencei680 – 6801E → ELPGPRQGQWLGQTSEMSRA LTPHPCVQ in isoform 3.
VSP_001673
Alternative sequencei750 – 78334VLYGQ…GLTPS → AGPPRRSAYFKDQIMLHPAP PNGLLCLFPITSVL in isoform 4.
VSP_001671Add
BLAST
Alternative sequencei784 – 83653Missing in isoform 4.
VSP_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]
ENST00000418048; ENSP00000401588; ENSG00000119535. [Q99062-1]
ENST00000440588; ENSP00000397568; ENSG00000119535. [Q99062-3]
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 ]
ENST00000418048 ; ENSP00000401588 ; ENSG00000119535 . [Q99062-1 ]
ENST00000440588 ; ENSP00000397568 ; ENSG00000119535 . [Q99062-3 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 155 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

Dasty 3

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