Q99062 (CSF3R_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Granulocyte colony-stimulating factor receptor
Short name=G-CSF receptor
Short name=G-CSF-R

Alternative name(s):
CD_antigen=CD114

Gene names

Name:	CSF3R
Synonyms:	GCSFR

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	836 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.8
Subunit structure	Homodimer. The dimeric receptor binds two CSF3 molecules. Ref.13
Subcellular location	Isoform 2: Secreted Probable. Cell membrane; Single-pass type I membrane protein.
Tissue specificity	One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U937 cell line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia U937 cells. Isoform GSCFR-3 is highly expressed in placenta.
Domain	The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. Ref.7 The box 1 motif is required for JAK interaction and/or activation. Ref.7
Involvement in disease	Defects in CSF3R are the cause of 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. Ref.15
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 treatement observed in some SCN patients.
Sequence similarities	Belongs to the type I cytokine receptor family. Type 2 subfamily. Contains 5 fibronectin type-III domains. Contains 1 Ig-like C2-type (immunoglobulin-like) domain.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell membrane Membrane Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Immunoglobulin domain Repeat Signal Transmembrane Transmembrane helix
Molecular function	Receptor
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW defense response Traceable author statement. Source: ProtInc
Cellular component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Traceable author statement. Source: ProtInc
Molecular function	cytokine receptor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

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

Isoform 1 (identifier: Q99062-1)

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.

Isoform 2 (identifier: Q99062-2)

Also known as: GCSFR-2;

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

Isoform 3 (identifier: Q99062-3)

Also known as: GCSFR-3;

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

Isoform 4 (identifier: Q99062-4)

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.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 24

24

Chain

25 – 836

812

Granulocyte colony-stimulating factor receptor

PRO_0000010874

Regions

Topological domain

25 – 627

603

Extracellular Potential

Transmembrane

628 – 650

23

Helical; Potential

Topological domain

651 – 836

186

Cytoplasmic Potential

Domain

25 – 117

93

Ig-like C2-type

Domain

122 – 222

101

Fibronectin type-III 1

Domain

237 – 330

94

Fibronectin type-III 2

Domain

334 – 426

93

Fibronectin type-III 3

Domain

430 – 522

93

Fibronectin type-III 4

Domain

527 – 618

92

Fibronectin type-III 5

Motif

318 – 322

5

WSXWS motif

Motif

658 – 666

9

Box 1 motif

Amino acid modifications

Glycosylation

51

1

N-linked (GlcNAc...) Potential

Glycosylation

93

1

N-linked (GlcNAc...) Potential

Glycosylation

128

1

N-linked (GlcNAc...) Potential

Glycosylation

134

1

N-linked (GlcNAc...) Ref.13

Glycosylation

389

1

N-linked (GlcNAc...) Potential

Glycosylation

474

1

N-linked (GlcNAc...) Potential

Glycosylation

579

1

N-linked (GlcNAc...) Potential

Glycosylation

610

1

N-linked (GlcNAc...) Potential

Disulfide bond

26 ↔ 52

Ref.13

Disulfide bond

46 ↔ 101

Ref.13

Disulfide bond

131 ↔ 142

Ref.13

Disulfide bond

167 ↔ 218

Ref.13

Disulfide bond

177 ↔ 186

Ref.13

Disulfide bond

248 ↔ 295

Ref.13

Disulfide bond

266 ↔ 309

Ref.13

Natural variations

Alternative sequence

622 – 836

215

EGSEL…ALGSF → APTGRIPSGQVSQTQLTAAW APGCPQSWRRMPSSCPALAR HPSPSSQCWRRMKRSRCPGS PITAQRPVASPLWSRPMCSR GTQEQFPPSPNPSLAPAIRS FMGSCWAAPQAQGQGTISAV TPLSPSWRASPPAPSPMRTS GSRPAPWGPW in isoform 2.

VSP_001674

Alternative sequence

680

1

E → ELPGPRQGQWLGQTSEMSRA LTPHPCVQ in isoform 3.

VSP_001673

Alternative sequence

750 – 783

34

VLYGQ…GLTPS → AGPPRRSAYFKDQIMLHPAP PNGLLCLFPITSVL in isoform 4.

VSP_001671

Alternative sequence

784 – 836

53

Missing in isoform 4.

VSP_001672

Natural variant

229

1

P → 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. Ref.14

VAR_062517

Natural variant

231

1

M → T. Ref.4
Corresponds to variant rs3917973 [ dbSNP | Ensembl ].

VAR_014325

Natural variant

320

1

D → N. Ref.4
Corresponds to variant rs3918018 [ dbSNP | Ensembl ].

VAR_014326

Natural variant

346

1

Q → R. Ref.4
Corresponds to variant rs3917974 [ dbSNP | Ensembl ].

VAR_014327

Natural variant

405

1

E → K. Ref.4
Corresponds to variant rs3918019 [ dbSNP | Ensembl ].

VAR_014328

Natural variant

440

1

R → Q. Ref.4
Corresponds to variant rs3918020 [ dbSNP | Ensembl ].

VAR_014329

Natural variant

510

1

D → H. Ref.4
Corresponds to variant rs3917991 [ dbSNP | Ensembl ].

VAR_014330

Natural variant

562

1

Y → H. Ref.4
Corresponds to variant rs3917996 [ dbSNP | Ensembl ].

VAR_014331

Natural variant

583

1

R → C. Ref.4
Corresponds to variant rs3917997 [ dbSNP | Ensembl ].

VAR_014332

Natural variant

640

1

T → N in neutrophilia. Ref.15

VAR_063065

Secondary structure

1

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836

Helix Strand Turn

Details...

Beta strand

29 – 32

4

Beta strand

34 – 36

3

Beta strand

42 – 46

5

Beta strand

62 – 67

6

Beta strand

79 – 81

3

Beta strand

85 – 90

6

Beta strand

94 – 119

26

Beta strand

127 – 134

8

Turn

135 – 138

4

Beta strand

139 – 145

7

Beta strand

155 – 162

8

Beta strand

174 – 177

4

Beta strand

184 – 189

6

Helix

190 – 192

3

Beta strand

195 – 197

3

Beta strand

199 – 207

9

Beta strand

210 – 213

4

Beta strand

217 – 219

3

Helix

221 – 224

4

Beta strand

231 – 234

4

Beta strand

249 – 254

6

Helix

257 – 259

3

Beta strand

264 – 275

12

Beta strand

280 – 285

6

Beta strand

289 – 294

6

Beta strand

303 – 311

9

Beta strand

325 – 327

3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (GCSFR-1) [UniParc]. Last modified February 1, 1995. Version 1. Checksum: 3531ADDC979D4BC3	FASTA	836	92,156
	10 20 30 40 50 60 MARLGNCSLT WAALIILLLP GSLEECGHIS VSAPIVHLGD PITASCIIKQ NCSHLDPEPQ 70 80 90 100 110 120 ILWRLGAELQ PGGRQQRLSD GTQESIITLP HLNHTQAFLS CCLNWGNSLQ ILDQVELRAG 130 140 150 160 170 180 YPPAIPHNLS CLMNLTTSSL ICQWEPGPET HLPTSFTLKS FKSRGNCQTQ GDSILDCVPK 190 200 210 220 230 240 DGQSHCCIPR KHLLLYQNMG IWVQAENALG TSMSPQLCLD PMDVVKLEPP MLRTMDPSPE 250 260 270 280 290 300 AAPPQAGCLQ LCWEPWQPGL HINQKCELRH KPQRGEASWA LVGPLPLEAL QYELCGLLPA 310 320 330 340 350 360 TAYTLQIRCI RWPLPGHWSD WSPSLELRTT ERAPTVRLDT WWRQRQLDPR TVQLFWKPVP 370 380 390 400 410 420 LEEDSGRIQG YVVSWRPSGQ AGAILPLCNT TELSCTFHLP SEAQEVALVA YNSAGTSRPT 430 440 450 460 470 480 PVVFSESRGP ALTRLHAMAR DPHSLWVGWE PPNPWPQGYV IEWGLGPPSA SNSNKTWRME 490 500 510 520 530 540 QNGRATGFLL KENIRPFQLY EIIVTPLYQD TMGPSQHVYA YSQEMAPSHA PELHLKHIGK 550 560 570 580 590 600 TWAQLEWVPE PPELGKSPLT HYTIFWTNAQ NQSFSAILNA SSRGFVLHGL EPASLYHIHL 610 620 630 640 650 660 MAASQAGATN STVLTLMTLT PEGSELHIIL GLFGLLLLLT CLCGTAWLCC SPNRKNPLWP 670 680 690 700 710 720 SVPDPAHSSL GSWVPTIMEE DAFQLPGLGT PPITKLTVLE EDEKKPVPWE SHNSSETCGL 730 740 750 760 770 780 PTLVQTYVLQ GDPRAVSTQP QSQSGTSDQV LYGQLLGSPT SPGPGHYLRC DSTQPLLAGL 790 800 810 820 830 TPSPKSYENL WFQASPLGTL VTPAPSQEDD CVFGPLLNFP LLQGIRVHGM EALGSF
	Isoform 2 (GCSFR-2) [UniParc]. Checksum: 2483E94E3A57322A	FASTA	771	85,120
	10 20 30 40 50 60 MARLGNCSLT WAALIILLLP GSLEECGHIS VSAPIVHLGD PITASCIIKQ NCSHLDPEPQ 70 80 90 100 110 120 ILWRLGAELQ PGGRQQRLSD GTQESIITLP HLNHTQAFLS CCLNWGNSLQ ILDQVELRAG 130 140 150 160 170 180 YPPAIPHNLS CLMNLTTSSL ICQWEPGPET HLPTSFTLKS FKSRGNCQTQ GDSILDCVPK 190 200 210 220 230 240 DGQSHCCIPR KHLLLYQNMG IWVQAENALG TSMSPQLCLD PMDVVKLEPP MLRTMDPSPE 250 260 270 280 290 300 AAPPQAGCLQ LCWEPWQPGL HINQKCELRH KPQRGEASWA LVGPLPLEAL QYELCGLLPA 310 320 330 340 350 360 TAYTLQIRCI RWPLPGHWSD WSPSLELRTT ERAPTVRLDT WWRQRQLDPR TVQLFWKPVP 370 380 390 400 410 420 LEEDSGRIQG YVVSWRPSGQ AGAILPLCNT TELSCTFHLP SEAQEVALVA YNSAGTSRPT 430 440 450 460 470 480 PVVFSESRGP ALTRLHAMAR DPHSLWVGWE PPNPWPQGYV IEWGLGPPSA SNSNKTWRME 490 500 510 520 530 540 QNGRATGFLL KENIRPFQLY EIIVTPLYQD TMGPSQHVYA YSQEMAPSHA PELHLKHIGK 550 560 570 580 590 600 TWAQLEWVPE PPELGKSPLT HYTIFWTNAQ NQSFSAILNA SSRGFVLHGL EPASLYHIHL 610 620 630 640 650 660 MAASQAGATN STVLTLMTLT PAPTGRIPSG QVSQTQLTAA WAPGCPQSWR RMPSSCPALA 670 680 690 700 710 720 RHPSPSSQCW RRMKRSRCPG SPITAQRPVA SPLWSRPMCS RGTQEQFPPS PNPSLAPAIR 730 740 750 760 770 SFMGSCWAAP QAQGQGTISA VTPLSPSWRA SPPAPSPMRT SGSRPAPWGP W
	Isoform 3 (GCSFR-3) [UniParc]. Checksum: 6951B4F2C9FED675	FASTA	863	95,114
	10 20 30 40 50 60 MARLGNCSLT WAALIILLLP GSLEECGHIS VSAPIVHLGD PITASCIIKQ NCSHLDPEPQ 70 80 90 100 110 120 ILWRLGAELQ PGGRQQRLSD GTQESIITLP HLNHTQAFLS CCLNWGNSLQ ILDQVELRAG 130 140 150 160 170 180 YPPAIPHNLS CLMNLTTSSL ICQWEPGPET HLPTSFTLKS FKSRGNCQTQ GDSILDCVPK 190 200 210 220 230 240 DGQSHCCIPR KHLLLYQNMG IWVQAENALG TSMSPQLCLD PMDVVKLEPP MLRTMDPSPE 250 260 270 280 290 300 AAPPQAGCLQ LCWEPWQPGL HINQKCELRH KPQRGEASWA LVGPLPLEAL QYELCGLLPA 310 320 330 340 350 360 TAYTLQIRCI RWPLPGHWSD WSPSLELRTT ERAPTVRLDT WWRQRQLDPR TVQLFWKPVP 370 380 390 400 410 420 LEEDSGRIQG YVVSWRPSGQ AGAILPLCNT TELSCTFHLP SEAQEVALVA YNSAGTSRPT 430 440 450 460 470 480 PVVFSESRGP ALTRLHAMAR DPHSLWVGWE PPNPWPQGYV IEWGLGPPSA SNSNKTWRME 490 500 510 520 530 540 QNGRATGFLL KENIRPFQLY EIIVTPLYQD TMGPSQHVYA YSQEMAPSHA PELHLKHIGK 550 560 570 580 590 600 TWAQLEWVPE PPELGKSPLT HYTIFWTNAQ NQSFSAILNA SSRGFVLHGL EPASLYHIHL 610 620 630 640 650 660 MAASQAGATN STVLTLMTLT PEGSELHIIL GLFGLLLLLT CLCGTAWLCC SPNRKNPLWP 670 680 690 700 710 720 SVPDPAHSSL GSWVPTIMEE LPGPRQGQWL GQTSEMSRAL TPHPCVQDAF QLPGLGTPPI 730 740 750 760 770 780 TKLTVLEEDE KKPVPWESHN SSETCGLPTL VQTYVLQGDP RAVSTQPQSQ SGTSDQVLYG 790 800 810 820 830 840 QLLGSPTSPG PGHYLRCDST QPLLAGLTPS PKSYENLWFQ ASPLGTLVTP APSQEDDCVF 850 860 GPLLNFPLLQ GIRVHGMEAL GSF
	Isoform 4 (GCSFR-4) (D7) [UniParc]. Checksum: 9D85EC2298D42BF3	FASTA	783	86,609
	10 20 30 40 50 60 MARLGNCSLT WAALIILLLP GSLEECGHIS VSAPIVHLGD PITASCIIKQ NCSHLDPEPQ 70 80 90 100 110 120 ILWRLGAELQ PGGRQQRLSD GTQESIITLP HLNHTQAFLS CCLNWGNSLQ ILDQVELRAG 130 140 150 160 170 180 YPPAIPHNLS CLMNLTTSSL ICQWEPGPET HLPTSFTLKS FKSRGNCQTQ GDSILDCVPK 190 200 210 220 230 240 DGQSHCCIPR KHLLLYQNMG IWVQAENALG TSMSPQLCLD PMDVVKLEPP MLRTMDPSPE 250 260 270 280 290 300 AAPPQAGCLQ LCWEPWQPGL HINQKCELRH KPQRGEASWA LVGPLPLEAL QYELCGLLPA 310 320 330 340 350 360 TAYTLQIRCI RWPLPGHWSD WSPSLELRTT ERAPTVRLDT WWRQRQLDPR TVQLFWKPVP 370 380 390 400 410 420 LEEDSGRIQG YVVSWRPSGQ AGAILPLCNT TELSCTFHLP SEAQEVALVA YNSAGTSRPT 430 440 450 460 470 480 PVVFSESRGP ALTRLHAMAR DPHSLWVGWE PPNPWPQGYV IEWGLGPPSA SNSNKTWRME 490 500 510 520 530 540 QNGRATGFLL KENIRPFQLY EIIVTPLYQD TMGPSQHVYA YSQEMAPSHA PELHLKHIGK 550 560 570 580 590 600 TWAQLEWVPE PPELGKSPLT HYTIFWTNAQ NQSFSAILNA SSRGFVLHGL EPASLYHIHL 610 620 630 640 650 660 MAASQAGATN STVLTLMTLT PEGSELHIIL GLFGLLLLLT CLCGTAWLCC SPNRKNPLWP 670 680 690 700 710 720 SVPDPAHSSL GSWVPTIMEE DAFQLPGLGT PPITKLTVLE EDEKKPVPWE SHNSSETCGL 730 740 750 760 770 780 PTLVQTYVLQ GDPRAVSTQP QSQSGTSDQA GPPRRSAYFK DQIMLHPAPP NGLLCLFPIT SVL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 2147944] [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: 1701053] [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: 1530796] [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: 15489334] [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: 8554326] [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: 1717255] [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: 7514305] [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: 17127321] [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: 19120359] [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: 9187659] [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: 9368043] [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: 16492764] [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: 10449521] [Abstract] Cited for: VARIANT HIS-229, CHARACTERIZATION OF VARIANT HIS-229, POSSIBLE ASSOCIATION WITH SCN.
[15]	"An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia." Plo I., Zhang Y., Le Couedic J.P., Nakatake M., Boulet J.M., Itaya M., Smith S.O., Debili N., Constantinescu S.N., Vainchenker W., Louache F., de Botton S. J. Exp. Med. 206:1701-1707(2009) [PubMed: 19620628] [Abstract] Cited for: VARIANT NEUTROPHILIA ASN-640.
+	Additional computationally mapped references.

Web resources

SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00012936.
IPI00216363.
IPI00216365.
IPI00216367.

PIR

B38252.
C38252.
JH0329.

RefSeq

NP_000751.1. NM_000760.3.
NP_724781.1. NM_156039.3.
NP_758519.1. NM_172313.2.

UniGene

Hs.524517.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1AZ7	model	-	A	125-331	[»]
2D9Q	X-ray	2.80	B	25-333	[»]

ProteinModelPortal

Q99062.

SMR

Q99062. Positions 23-620.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-5788N.

MINT

MINT-4787360.

STRING

Q99062.

PTM databases

PhosphoSite

Q99062.

Polymorphism databases

DMDM

729564.

Proteomic databases

PRIDE

Q99062.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000361632; ENSP00000355406; ENSG00000119535.
ENST00000373106; ENSP00000362198; ENSG00000119535.
ENST00000418048; ENSP00000401588; ENSG00000119535.

GeneID

1441.

KEGG

hsa:1441.

UCSC

uc001cav.1. human.
uc001caw.1. human.
uc001cax.1. human.
uc001cay.1. human.

Organism-specific databases

CTD

1441.

GeneCards

GC01M036931.

HGNC

HGNC:2439. CSF3R.

HPA

CAB017116.

MIM

138971. gene.
162830. phenotype.

neXtProt

NX_Q99062.

Orphanet

42738. Severe congenital neutropenia.

PharmGKB

PA26942.

GenAtlas

Search...

Phylogenomic databases

GeneTree

ENSGT00550000074436.

HOVERGEN

HBG051130.

OMA

DDCVFGP.

OrthoDB

EOG495ZRM.

Gene expression databases

ArrayExpress

Q99062.

Bgee

Q99062.

CleanEx

HS_CSF3R.

Genevestigator

Q99062.

GermOnline

ENSG00000119535. Homo sapiens.

Family and domain databases

InterPro

IPR003961. Fibronectin_type3.
IPR003529. Hematopoietin_rcpt_Gp130_CS.
IPR013783. Ig-like_fold.
IPR010457. IgC2-like_lig-bd.
[Graphical view]

Gene3D

G3DSA:2.60.40.10. Ig-like_fold. 6 hits.

KO

K05061.

Pfam

PF00041. fn3. 1 hit.
PF06328. Lep_receptor_Ig. 1 hit.
[Graphical view]

SMART

SM00060. FN3. 5 hits.
[Graphical view]

SUPFAM

SSF49265. FN_III-like. 5 hits.

PROSITE

PS50853. FN3. 5 hits.
PS01353. HEMATOPO_REC_L_F2. 1 hit.
[Graphical view]

ProtoNet

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Other

DrugBank

DB00099. Filgrastim.
DB00019. Pegfilgrastim.

NextBio

5901.

SOURCE

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Entry information

Entry name

CSF3R_HUMAN

Accession

Primary (citable) accession number: Q99062

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	February 1, 1995
Last modified:	January 25, 2012
This is version 130 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.