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Q99062

- CSF3R_HUMAN

UniProt

Q99062 - CSF3R_HUMAN

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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

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. 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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 627603ExtracellularSequence AnalysisAdd
BLAST
Transmembranei628 – 65023HelicalSequence AnalysisAdd
BLAST
Topological domaini651 – 836186CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-KW
  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.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

BgeeiQ99062.
CleanExiHS_CSF3R.
ExpressionAtlasiQ99062. baseline and differential.
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 – 324Combined sources
Beta strandi34 – 363Combined sources
Beta strandi42 – 465Combined sources
Beta strandi62 – 676Combined sources
Beta strandi79 – 813Combined sources
Beta strandi85 – 906Combined sources
Beta strandi94 – 11926Combined sources
Beta strandi127 – 1348Combined sources
Turni135 – 1384Combined sources
Beta strandi139 – 1457Combined sources
Beta strandi155 – 1628Combined sources
Beta strandi174 – 1774Combined sources
Beta strandi184 – 1896Combined sources
Helixi190 – 1923Combined sources
Beta strandi195 – 1973Combined sources
Beta strandi199 – 2079Combined sources
Beta strandi210 – 2134Combined sources
Beta strandi217 – 2193Combined sources
Helixi221 – 2244Combined sources
Beta strandi231 – 2344Combined sources
Beta strandi249 – 2546Combined sources
Helixi257 – 2593Combined sources
Beta strandi264 – 27512Combined sources
Beta strandi280 – 2856Combined sources
Beta strandi289 – 2946Combined sources
Beta strandi303 – 3119Combined sources
Beta strandi325 – 3273Combined sources

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiQ99062.

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.
GeneTreeiENSGT00550000074436.
HOGENOMiHOG000231142.
HOVERGENiHBG051130.
InParanoidiQ99062.
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

        10         20         30         40         50
MARLGNCSLT WAALIILLLP GSLEECGHIS VSAPIVHLGD PITASCIIKQ
60 70 80 90 100
NCSHLDPEPQ ILWRLGAELQ PGGRQQRLSD GTQESIITLP HLNHTQAFLS
110 120 130 140 150
CCLNWGNSLQ ILDQVELRAG YPPAIPHNLS CLMNLTTSSL ICQWEPGPET
160 170 180 190 200
HLPTSFTLKS FKSRGNCQTQ GDSILDCVPK DGQSHCCIPR KHLLLYQNMG
210 220 230 240 250
IWVQAENALG TSMSPQLCLD PMDVVKLEPP MLRTMDPSPE AAPPQAGCLQ
260 270 280 290 300
LCWEPWQPGL HINQKCELRH KPQRGEASWA LVGPLPLEAL QYELCGLLPA
310 320 330 340 350
TAYTLQIRCI RWPLPGHWSD WSPSLELRTT ERAPTVRLDT WWRQRQLDPR
360 370 380 390 400
TVQLFWKPVP LEEDSGRIQG YVVSWRPSGQ AGAILPLCNT TELSCTFHLP
410 420 430 440 450
SEAQEVALVA YNSAGTSRPT PVVFSESRGP ALTRLHAMAR DPHSLWVGWE
460 470 480 490 500
PPNPWPQGYV IEWGLGPPSA SNSNKTWRME QNGRATGFLL KENIRPFQLY
510 520 530 540 550
EIIVTPLYQD TMGPSQHVYA YSQEMAPSHA PELHLKHIGK TWAQLEWVPE
560 570 580 590 600
PPELGKSPLT HYTIFWTNAQ NQSFSAILNA SSRGFVLHGL EPASLYHIHL
610 620 630 640 650
MAASQAGATN STVLTLMTLT PEGSELHIIL GLFGLLLLLT CLCGTAWLCC
660 670 680 690 700
SPNRKNPLWP SVPDPAHSSL GSWVPTIMEE DAFQLPGLGT PPITKLTVLE
710 720 730 740 750
EDEKKPVPWE SHNSSETCGL PTLVQTYVLQ GDPRAVSTQP QSQSGTSDQV
760 770 780 790 800
LYGQLLGSPT SPGPGHYLRC DSTQPLLAGL TPSPKSYENL WFQASPLGTL
810 820 830
VTPAPSQEDD CVFGPLLNFP LLQGIRVHGM EALGSF
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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.
GeneTreei ENSGT00550000074436.
HOGENOMi HOG000231142.
HOVERGENi HBG051130.
InParanoidi Q99062.
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

Bgeei Q99062.
CleanExi HS_CSF3R.
ExpressionAtlasi Q99062. baseline and differential.
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: November 26, 2014
This is version 158 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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