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Protein

Granulocyte colony-stimulating factor receptor

Gene

CSF3R

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • cytokine receptor activity Source: InterPro
  • receptor activity Source: ProtInc

GO - Biological processi

  • amelogenesis Source: Ensembl
  • cell adhesion Source: UniProtKB-KW
  • defense response Source: ProtInc
  • neutrophil chemotaxis Source: Ensembl
  • regulation of myeloid cell differentiation Source: Ensembl
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000119535-MONOMER.
ReactomeiR-HSA-449147. Signaling by Interleukins.
SignaLinkiQ99062.
SIGNORiQ99062.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:2439. CSF3R.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini25 – 627ExtracellularSequence analysisAdd BLAST603
Transmembranei628 – 650HelicalSequence analysisAdd BLAST23
Topological domaini651 – 836CytoplasmicSequence analysisAdd BLAST186

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Hereditary neutrophilia (NEUTROPHILIA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood.
See also OMIM:162830

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1441.
MalaCardsiCSF3R.
MIMi162830. phenotype.
OpenTargetsiENSG00000119535.
Orphaneti98824. Atypical chronic myeloid leukemia.
86829. Chronic neutrophilic leukemia.
279943. Hereditary neutrophilia.
PharmGKBiPA26942.

Chemistry databases

ChEMBLiCHEMBL1996.
DrugBankiDB00099. Filgrastim.
DB00019. Pegfilgrastim.

Polymorphism and mutation databases

BioMutaiCSF3R.
DMDMi729564.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Add BLAST24
ChainiPRO_000001087425 – 836Granulocyte colony-stimulating factor receptorAdd BLAST812

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi26 ↔ 521 Publication
Disulfide bondi46 ↔ 1011 Publication
Glycosylationi51N-linked (GlcNAc...)Sequence analysis1
Glycosylationi93N-linked (GlcNAc...)Sequence analysis1
Glycosylationi128N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi131 ↔ 1421 Publication
Glycosylationi134N-linked (GlcNAc...)1 Publication1
Disulfide bondi167 ↔ 2181 Publication
Disulfide bondi177 ↔ 1861 Publication
Disulfide bondi248 ↔ 2951 Publication
Disulfide bondi266 ↔ 3091 Publication
Glycosylationi389N-linked (GlcNAc...)Sequence analysis1
Glycosylationi474N-linked (GlcNAc...)Sequence analysis1
Glycosylationi579N-linked (GlcNAc...)Sequence analysis1
Glycosylationi610N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ99062.
PeptideAtlasiQ99062.
PRIDEiQ99062.

PTM databases

iPTMnetiQ99062.
PhosphoSitePlusiQ99062.

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

BgeeiENSG00000119535.
CleanExiHS_CSF3R.
ExpressionAtlasiQ99062. baseline and differential.
GenevisibleiQ99062. HS.

Organism-specific databases

HPAiCAB017116.
HPA048086.

Interactioni

Subunit structurei

Homodimer. The dimeric receptor binds two CSF3 molecules. Interacts with CEACAM1; down-regulates the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity).By similarity1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi107828. 13 interactors.
DIPiDIP-5788N.
IntActiQ99062. 2 interactors.
MINTiMINT-4787360.
STRINGi9606.ENSP00000362195.

Chemistry databases

BindingDBiQ99062.

Structurei

Secondary structure

1836
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi29 – 32Combined sources4
Beta strandi34 – 36Combined sources3
Beta strandi42 – 46Combined sources5
Beta strandi62 – 67Combined sources6
Beta strandi79 – 81Combined sources3
Beta strandi85 – 90Combined sources6
Beta strandi94 – 119Combined sources26
Beta strandi127 – 134Combined sources8
Turni135 – 138Combined sources4
Beta strandi139 – 145Combined sources7
Beta strandi155 – 162Combined sources8
Beta strandi174 – 177Combined sources4
Beta strandi184 – 189Combined sources6
Helixi190 – 192Combined sources3
Beta strandi195 – 197Combined sources3
Beta strandi199 – 207Combined sources9
Beta strandi210 – 213Combined sources4
Beta strandi217 – 219Combined sources3
Helixi221 – 224Combined sources4
Beta strandi231 – 234Combined sources4
Beta strandi249 – 254Combined sources6
Helixi257 – 259Combined sources3
Beta strandi264 – 275Combined sources12
Beta strandi280 – 285Combined sources6
Beta strandi289 – 294Combined sources6
Beta strandi303 – 311Combined sources9
Beta strandi325 – 327Combined sources3

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiQ99062.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini25 – 117Ig-like C2-typeAdd BLAST93
Domaini125 – 230Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST106
Domaini233 – 332Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST100
Domaini334 – 430Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST97
Domaini431 – 528Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST98
Domaini530 – 623Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST94

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi318 – 322WSXWS motif5
Motifi658 – 666Box 1 motif9

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

eggNOGiENOG410IGHT. Eukaryota.
ENOG410XVIU. LUCA.
GeneTreeiENSGT00550000074436.
HOGENOMiHOG000231142.
HOVERGENiHBG051130.
InParanoidiQ99062.
KOiK05061.
OMAiYLRCDST.
OrthoDBiEOG091G01XM.
PhylomeDBiQ99062.
TreeFamiTF338122.

Family and domain databases

CDDicd00063. FN3. 4 hits.
Gene3Di2.60.40.10. 6 hits.
InterProiIPR003961. FN3_dom.
IPR003529. Hematopoietin_rcpt_Gp130_CS.
IPR007110. Ig-like_dom.
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]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF49265. 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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_062517229P → 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 PublicationCorresponds to variant rs764202764dbSNPEnsembl.1
Natural variantiVAR_014325231M → T.1 PublicationCorresponds to variant rs3917973dbSNPEnsembl.1
Natural variantiVAR_014326320D → N.1 PublicationCorresponds to variant rs3918018dbSNPEnsembl.1
Natural variantiVAR_014327346Q → R.1 PublicationCorresponds to variant rs3917974dbSNPEnsembl.1
Natural variantiVAR_014328405E → K.1 PublicationCorresponds to variant rs3918019dbSNPEnsembl.1
Natural variantiVAR_014329440R → Q.1 PublicationCorresponds to variant rs3918020dbSNPEnsembl.1
Natural variantiVAR_014330510D → H.1 PublicationCorresponds to variant rs3917991dbSNPEnsembl.1
Natural variantiVAR_014331562Y → H.1 PublicationCorresponds to variant rs3917996dbSNPEnsembl.1
Natural variantiVAR_014332583R → C.1 PublicationCorresponds to variant rs3917997dbSNPEnsembl.1
Natural variantiVAR_063065640T → N in neutrophilia. 1 PublicationCorresponds to variant rs121918426dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001674622 – 836EGSEL…ALGSF → APTGRIPSGQVSQTQLTAAW APGCPQSWRRMPSSCPALAR HPSPSSQCWRRMKRSRCPGS PITAQRPVASPLWSRPMCSR GTQEQFPPSPNPSLAPAIRS FMGSCWAAPQAQGQGTISAV TPLSPSWRASPPAPSPMRTS GSRPAPWGPW in isoform 2. 1 PublicationAdd BLAST215
Alternative sequenceiVSP_001673680E → ELPGPRQGQWLGQTSEMSRA LTPHPCVQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_001671750 – 783VLYGQ…GLTPS → AGPPRRSAYFKDQIMLHPAP PNGLLCLFPITSVL in isoform 4. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_001672784 – 836Missing in isoform 4. 1 PublicationAdd BLAST53

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]
XP_011539050.1. XM_011540748.2. [Q99062-3]
XP_016855859.1. XM_017000370.1. [Q99062-3]
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.3. human. [Q99062-1]

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.
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]
XP_011539050.1. XM_011540748.2. [Q99062-3]
XP_016855859.1. XM_017000370.1. [Q99062-3]
UniGeneiHs.524517.

3D structure databases

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

Protein-protein interaction databases

BioGridi107828. 13 interactors.
DIPiDIP-5788N.
IntActiQ99062. 2 interactors.
MINTiMINT-4787360.
STRINGi9606.ENSP00000362195.

Chemistry databases

BindingDBiQ99062.
ChEMBLiCHEMBL1996.
DrugBankiDB00099. Filgrastim.
DB00019. Pegfilgrastim.

PTM databases

iPTMnetiQ99062.
PhosphoSitePlusiQ99062.

Polymorphism and mutation databases

BioMutaiCSF3R.
DMDMi729564.

Proteomic databases

PaxDbiQ99062.
PeptideAtlasiQ99062.
PRIDEiQ99062.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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.3. human. [Q99062-1]

Organism-specific databases

CTDi1441.
DisGeNETi1441.
GeneCardsiCSF3R.
HGNCiHGNC:2439. CSF3R.
HPAiCAB017116.
HPA048086.
MalaCardsiCSF3R.
MIMi138971. gene.
162830. phenotype.
neXtProtiNX_Q99062.
OpenTargetsiENSG00000119535.
Orphaneti98824. Atypical chronic myeloid leukemia.
86829. Chronic neutrophilic leukemia.
279943. Hereditary neutrophilia.
PharmGKBiPA26942.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGHT. Eukaryota.
ENOG410XVIU. LUCA.
GeneTreeiENSGT00550000074436.
HOGENOMiHOG000231142.
HOVERGENiHBG051130.
InParanoidiQ99062.
KOiK05061.
OMAiYLRCDST.
OrthoDBiEOG091G01XM.
PhylomeDBiQ99062.
TreeFamiTF338122.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000119535-MONOMER.
ReactomeiR-HSA-449147. Signaling by Interleukins.
SignaLinkiQ99062.
SIGNORiQ99062.

Miscellaneous databases

ChiTaRSiCSF3R. human.
EvolutionaryTraceiQ99062.
GeneWikiiGranulocyte_colony-stimulating_factor_receptor.
GenomeRNAii1441.
PROiQ99062.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119535.
CleanExiHS_CSF3R.
ExpressionAtlasiQ99062. baseline and differential.
GenevisibleiQ99062. HS.

Family and domain databases

CDDicd00063. FN3. 4 hits.
Gene3Di2.60.40.10. 6 hits.
InterProiIPR003961. FN3_dom.
IPR003529. Hematopoietin_rcpt_Gp130_CS.
IPR007110. Ig-like_dom.
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]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF49265. SSF49265. 4 hits.
PROSITEiPS50853. FN3. 5 hits.
PS01353. HEMATOPO_REC_L_F2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 30, 2016
This is version 174 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.