P15509 (CSF2R_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
Short name=GM-CSF-R-alpha
Short name=GMCSFR-alpha
Short name=GMR-alpha

Alternative name(s):
CDw116
CD_antigen=CD116

Gene names

Name:	CSF2RA
Synonyms:	CSF2R, CSF2RY

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	400 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	Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.
Subunit structure	Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSF receptors. The signaling GM-CSF receptor complex is a dodecamer of two head-to-head hexamers of two alpha, two beta, and two ligand subunits. Ref.14
Subcellular location	Cell membrane; Single-pass type I membrane protein. Isoform 3: Secreted Probable. Isoform 4: Secreted Probable. Isoform 6: Secreted Probable.
Domain	The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. The box 1 motif is required for JAK interaction and/or activation.
Involvement in disease	Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770]: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13 Ref.15
Miscellaneous	The gene encoding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
Sequence similarities	Belongs to the type I cytokine receptor family. Type 5 subfamily.

Ontologies

Keywords
Cellular component	Cell membrane Membrane Secreted
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Receptor
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cytokine-mediated signaling pathway Inferred from electronic annotation. Source: GOC
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc
Molecular_function	cytokine receptor activity Inferred from electronic annotation. Source: InterPro receptor activity Traceable author statement Ref.12. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P15509-1)

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: P15509-2)

The sequence of this isoform differs from the canonical sequence as follows:
     376-400: IIWEEFTPEEGKGYREEVLTVKEIT → MGPQRHHRCGWNLYPTPGPSPGSGSSPRLGSESSL

Isoform 3 (identifier: P15509-3)

The sequence of this isoform differs from the canonical sequence as follows:
     318-333: DDGNLGSVYIYVLLIV → LGYSGCSRQFHRSKTN
     334-400: Missing.

Isoform 4 (identifier: P15509-4)

The sequence of this isoform differs from the canonical sequence as follows:
     271-286: INVSGDLENRYNFPSS → VVLTTGTSALCTFMCS
     287-400: Missing.

Isoform 5 (identifier: P15509-5)

The sequence of this isoform differs from the canonical sequence as follows:
     316-400: GSDDGNLGSV...EEVLTVKEIT → DDHLGGIHPR...NLYIIFYVFI

Isoform 6 (identifier: P15509-6)

The sequence of this isoform differs from the canonical sequence as follows:
     216-233: ERFNPPSNVTVRCNTTHC → GSLGYSGCSRQFHRSKTN
     234-400: Missing.

Isoform 7 (identifier: P15509-7)

Also known as: Alu-GMRalpha;

The sequence of this isoform differs from the canonical sequence as follows:
     315-315: F → FGSHSVTQAGVQWHNLGSLQPPSPRLKRFSCLRLP

Isoform 8 (identifier: P15509-8)

The sequence of this isoform differs from the canonical sequence as follows:
     1-133: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 22

22

Chain

23 – 400

378

Granulocyte-macrophage colony-stimulating factor receptor subunit alpha

PRO_0000010872

Regions

Topological domain

23 – 320

298

Extracellular Potential

Transmembrane

321 – 346

26

Helical; Potential

Topological domain

347 – 400

54

Cytoplasmic Potential

Motif

306 – 310

5

WSXWS motif

Motif

355 – 363

9

Box 1 motif

Amino acid modifications

Glycosylation

46

1

N-linked (GlcNAc...) Potential

Glycosylation

54

1

N-linked (GlcNAc...) Potential

Glycosylation

99

1

N-linked (GlcNAc...) Potential

Glycosylation

123

1

N-linked (GlcNAc...) Potential

Glycosylation

135

1

N-linked (GlcNAc...) Potential

Glycosylation

182

1

N-linked (GlcNAc...) Potential

Glycosylation

195

1

N-linked (GlcNAc...) Potential

Glycosylation

223

1

N-linked (GlcNAc...) Potential

Glycosylation

229

1

N-linked (GlcNAc...) Ref.14

Glycosylation

272

1

N-linked (GlcNAc...) Potential

Glycosylation

305

1

N-linked (GlcNAc...) Potential

Disulfide bond

126 ↔ 136

By similarity

Disulfide bond

165 ↔ 178

By similarity

Natural variations

Alternative sequence

1 – 133

133

Missing in isoform 8.

VSP_044272

Alternative sequence

216 – 233

18

ERFNP…NTTHC → GSLGYSGCSRQFHRSKTN in isoform 6.

VSP_001663

Alternative sequence

234 – 400

167

Missing in isoform 6.

VSP_001664

Alternative sequence

271 – 286

16

INVSG…NFPSS → VVLTTGTSALCTFMCS in isoform 4.

VSP_001665

Alternative sequence

287 – 400

114

Missing in isoform 4.

VSP_001666

Alternative sequence

315

1

F → FGSHSVTQAGVQWHNLGSLQ PPSPRLKRFSCLRLP in isoform 7.

VSP_043715

Alternative sequence

316 – 400

85

GSDDG…VKEIT → DDHLGGIHPRGRERLPRRGL DREGNYLRPRGCRNGMDISA SATRGNCFLDDAVNLYIIFY VFI in isoform 5.

VSP_001667

Alternative sequence

318 – 333

16

DDGNL…VLLIV → LGYSGCSRQFHRSKTN in isoform 3.

VSP_001668

Alternative sequence

334 – 400

67

Missing in isoform 3.

VSP_001669

Alternative sequence

376 – 400

25

IIWEE…VKEIT → MGPQRHHRCGWNLYPTPGPS PGSGSSPRLGSESSL in isoform 2.

VSP_001670

Natural variant

196

1

G → R in SMDP4. Ref.15

VAR_058507

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

400

Helix Strand Turn

Details...

Beta strand

226 – 228

3

Beta strand

230 – 235

6

Beta strand

249 – 254

6

Beta strand

269 – 271

3

Beta strand

275 – 277

3

Beta strand

295 – 303

9

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 1, 1990. Version 1. Checksum: D9025B981E41311D	FASTA	400	46,207
	10 20 30 40 50 60 MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC 70 80 90 100 110 120 FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA 130 140 150 160 170 180 AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL 190 200 210 220 230 240 DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP 250 260 270 280 290 300 RTYQKLSYLD FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD 310 320 330 340 350 360 VRILNWSSWS EAIEFGSDDG NLGSVYIYVL LIVGTLVCGI VLGFLFKRFL RIQRLFPPVP 370 380 390 400 QIKDKLNDNH EVEDEIIWEE FTPEEGKGYR EEVLTVKEIT
	Isoform 2 [UniParc]. Checksum: C95FD645760C19DB	FASTA	410	46,901
	10 20 30 40 50 60 MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC 70 80 90 100 110 120 FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA 130 140 150 160 170 180 AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL 190 200 210 220 230 240 DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP 250 260 270 280 290 300 RTYQKLSYLD FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD 310 320 330 340 350 360 VRILNWSSWS EAIEFGSDDG NLGSVYIYVL LIVGTLVCGI VLGFLFKRFL RIQRLFPPVP 370 380 390 400 410 QIKDKLNDNH EVEDEMGPQR HHRCGWNLYP TPGPSPGSGS SPRLGSESSL
	Isoform 3 [UniParc]. Checksum: 8F13C90D460D6255	FASTA	333	38,439
	10 20 30 40 50 60 MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC 70 80 90 100 110 120 FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA 130 140 150 160 170 180 AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL 190 200 210 220 230 240 DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP 250 260 270 280 290 300 RTYQKLSYLD FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD 310 320 330 VRILNWSSWS EAIEFGSLGY SGCSRQFHRS KTN
	Isoform 4 [UniParc]. Checksum: 4222498F3A1F31F1	FASTA	286	32,915
	10 20 30 40 50 60 MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC 70 80 90 100 110 120 FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA 130 140 150 160 170 180 AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL 190 200 210 220 230 240 DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP 250 260 270 280 RTYQKLSYLD FQYQLDVHRK NTQPGTENLL VVLTTGTSAL CTFMCS
	Isoform 5 [UniParc]. Checksum: 67422662E59020D0	FASTA	378	43,661
	10 20 30 40 50 60 MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC 70 80 90 100 110 120 FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA 130 140 150 160 170 180 AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL 190 200 210 220 230 240 DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP 250 260 270 280 290 300 RTYQKLSYLD FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD 310 320 330 340 350 360 VRILNWSSWS EAIEFDDHLG GIHPRGRERL PRRGLDREGN YLRPRGCRNG MDISASATRG 370 NCFLDDAVNL YIIFYVFI
	Isoform 6 [UniParc]. Checksum: E73741ADEDD70478	FASTA	233	26,648
	10 20 30 40 50 60 MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC 70 80 90 100 110 120 FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA 130 140 150 160 170 180 AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL 190 200 210 220 230 DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIGSLGY SGCSRQFHRS KTN
	Isoform 7 (Alu-GMRalpha) [UniParc]. Checksum: 8190BD7AF28C93EC	FASTA	434	49,944
	10 20 30 40 50 60 MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC 70 80 90 100 110 120 FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA 130 140 150 160 170 180 AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL 190 200 210 220 230 240 DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP 250 260 270 280 290 300 RTYQKLSYLD FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD 310 320 330 340 350 360 VRILNWSSWS EAIEFGSHSV TQAGVQWHNL GSLQPPSPRL KRFSCLRLPG SDDGNLGSVY 370 380 390 400 410 420 IYVLLIVGTL VCGIVLGFLF KRFLRIQRLF PPVPQIKDKL NDNHEVEDEI IWEEFTPEEG 430 KGYREEVLTV KEIT
	Isoform 8 [UniParc]. Checksum: FBF60C31AC0E0B3A	FASTA	267	31,101
	10 20 30 40 50 60 MNCTWARGPT APRDVQYFLY IRNSKRRREI RCPYYIQDSG THVGCHLDNL SGLTSRNYFL 70 80 90 100 110 120 VNGTSREIGI QFFDSLLDTK KIERFNPPSN VTVRCNTTHC LVRWKQPRTY QKLSYLDFQY 130 140 150 160 170 180 QLDVHRKNTQ PGTENLLINV SGDLENRYNF PSSEPRAKHS VKIRAADVRI LNWSSWSEAI 190 200 210 220 230 240 EFGSDDGNLG SVYIYVLLIV GTLVCGIVLG FLFKRFLRIQ RLFPPVPQIK DKLNDNHEVE 250 260 DEIIWEEFTP EEGKGYREEV LTVKEIT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Expression cloning of a receptor for human granulocyte-macrophage colony-stimulating factor." Gearing D.P., King J.A., Gough N.M., Nicola N.A. EMBO J. 8:3667-3676(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Placenta.
[2]	"Structure of the gene encoding the alpha subunit of the human granulocyte-macrophage colony stimulating factor receptor. Implications for the evolution of the cytokine receptor superfamily." Nakagawa Y., Kosugi H., Miyajima A., Arai K., Yokota T. J. Biol. Chem. 269:10905-10912(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[3]	"A functional isoform of the human granulocyte/macrophage colony-stimulating factor receptor has an unusual cytoplasmic domain." Crosier K.E., Wong G.G., Mathey-Prevot B., Nathan D.G., Sieff C.A. Proc. Natl. Acad. Sci. U.S.A. 88:7744-7748(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[4]	"Cloning of a potentially soluble receptor for human GM-CSF." Ashworth A., Kraft A. Nucleic Acids Res. 18:7178-7178(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Placenta.
[5]	"Identification and molecular cloning of a soluble human granulocyte-macrophage colony-stimulating factor receptor." Raines M.A., Liu L., Quan S.G., Joe V., DiPersio J.F., Golde D.W. Proc. Natl. Acad. Sci. U.S.A. 88:8203-8207(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[6]	"Cloning and sequencing of the cDNAs encoding two alternative splicing-derived variants of the alpha subunit of the granulocyte-macrophage colony-stimulating factor receptor." Hu X., Emanuel P.D., Zuckerman K.S. Biochim. Biophys. Acta 1223:306-308(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5). Tissue: Blood.
[7]	"Cloning and sequencing of the cDNA variant with 397 bp missing for the GM-CSF receptor alpha subunit." Hu X., Zuckerman K.S. Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
[8]	"Discovery and characterization of a novel splice variant of the GM-CSF receptor alpha subunit." Pelley J.L., Nicholls C.D., Beattie T.L., Brown C.B. Exp. Hematol. 35:1483-1494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
[9]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 8). Tissue: Synovium and Uterus.
[10]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]	"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: Placenta and Uterus.
[12]	"Arrangement and localization of the human GM-CSF receptor alpha chain gene CSF2RA within the X-Y pseudoautosomal region." Rappold G., Willson T.A., Henke A., Gough N.M. Genomics 14:455-461(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 376-400.
[13]	"Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1." Martinez-Moczygemba M., Doan M.L., Elidemir O., Fan L.L., Cheung S.W., Lei J.T., Moore J.P., Tavana G., Lewis L.R., Zhu Y., Muzny D.M., Gibbs R.A., Huston D.P. J. Exp. Med. 205:2711-2716(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SMDP4.
[14]	"The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation." Hansen G., Hercus T.R., McClure B.J., Stomski F.C., Dottore M., Powell J., Ramshaw H., Woodcock J.M., Xu Y., Guthridge M., McKinstry W.J., Lopez A.F., Parker M.W. Cell 134:496-507(2008) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (3.3 ANGSTROMS) OF 218-320 IN COMPLEX WITH CSF2RB AND CSF2, SUBUNIT, GLYCOSYLATION AT ASN-229.
[15]	"Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA." Suzuki T., Sakagami T., Rubin B.K., Nogee L.M., Wood R.E., Zimmerman S.L., Smolarek T., Dishop M.K., Wert S.E., Whitsett J.A., Grabowski G., Carey B.C., Stevens C., van der Loo J.C., Trapnell B.C. J. Exp. Med. 205:2703-2710(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMDP4 ARG-196.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

X17648 mRNA. Translation: CAA35638.1.
D26628 Genomic DNA. Translation: BAA05656.1.
M64445 mRNA. Translation: AAA35908.1.
X54935 mRNA. Translation: CAA38697.1.
M73832 mRNA. Translation: AAA35909.1.
L29348 mRNA. Translation: AAA60961.1.
L29349 mRNA. Translation: AAA60962.1.
U93096 mRNA. Translation: AAB51535.1.
DQ841258 mRNA. Translation: ABI32309.1.
AK293086 mRNA. Translation: BAF85775.1.
AK301395 mRNA. Translation: BAG62930.1.
BX649553 Genomic DNA. Translation: CAI95727.1.
BC002635 mRNA. Translation: AAH02635.1.
BC071835 mRNA. Translation: AAH71835.1.

IPI

IPI00012009.
IPI00172409.
IPI00219208.
IPI00219210.
IPI00219211.
IPI00219212.
IPI00855945.

PIR

S06945.
S13684.
S50039.
S50040.

RefSeq

NP_001155001.1. NM_001161529.1.
NP_001155002.1. NM_001161530.1.
NP_001155003.1. NM_001161531.1.
NP_001155004.1. NM_001161532.1.
NP_006131.2. NM_006140.4.
NP_758448.1. NM_172245.2.
NP_758449.1. NM_172246.2.
NP_758450.1. NM_172247.2.
NP_758452.1. NM_172249.2.

UniGene

Hs.520937.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3CXE	X-ray	3.30	C	218-320	[»]

ProteinModelPortal

P15509.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-635N.

IntAct

P15509. 2 interactions.

MINT

MINT-7242386.

STRING

9606.ENSP00000370935.

PTM databases

PhosphoSite

P15509.

Polymorphism databases

DMDM

121509.

Proteomic databases

PaxDb

P15509.

PRIDE

P15509.

Protocols and materials databases

DNASU

1438.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000355805; ENSP00000348058; ENSG00000198223.
ENST00000361536; ENSP00000354836; ENSG00000198223.
ENST00000381500; ENSP00000370911; ENSG00000198223.
ENST00000381509; ENSP00000370920; ENSG00000198223.
ENST00000381524; ENSP00000370935; ENSG00000198223.
ENST00000381529; ENSP00000370940; ENSG00000198223.
ENST00000417535; ENSP00000394227; ENSG00000198223.
ENST00000432318; ENSP00000416437; ENSG00000198223.
ENST00000501036; ENSP00000440491; ENSG00000198223.

GeneID

1438.

KEGG

hsa:1438.

UCSC

uc004cpn.2. human.
uc004cpp.2. human.
uc004cpq.2. human.
uc004cpr.2. human.
uc011mhb.1. human.

Organism-specific databases

CTD

1438.

GeneCards

GC0XP001347.

HGNC

HGNC:2435. CSF2RA.

HPA

CAB016148.

MIM

300770. phenotype.
306250. gene.
425000. gene.

neXtProt

NX_P15509.

Orphanet

264675. Congenital pulmonary alveolar proteinosis.

PharmGKB

PA26938.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG74889.

HOGENOM

HOG000004539.

HOVERGEN

HBG103561.

KO

K05066.

OMA

CKENTTY.

OrthoDB

EOG46Q6T8.

Enzyme and pathway databases

Reactome

REACT_6900. Immune System.

Gene expression databases

ArrayExpress

P15509.

Bgee

P15509.

CleanEx

HS_CSF2RA.

Genevestigator

P15509.

GermOnline

ENSG00000198223. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.10. 2 hits.

InterPro

IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR015321. IL6_recept-bd.
IPR003532. Short_hematopoietin_rcpt_2_CS.
[Graphical view]

Pfam

PF09240. IL6Ra-bind. 1 hit.
[Graphical view]

SMART

SM00060. FN3. 1 hit.
[Graphical view]

SUPFAM

SSF49265. FN_III-like. 2 hits.

PROSITE

PS01356. HEMATOPO_REC_S_F2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChEMBL

CHEMBL2020.

DrugBank

DB00020. Sargramostim.

EvolutionaryTrace

P15509.

GenomeRNAi

1438.

NextBio

35534741.

SOURCE

Search...

Entry information

Entry name

CSF2R_HUMAN

Accession

Primary (citable) accession number: P15509
Secondary accession number(s): A7J003 , A8KAM1, B4DW68, J3JS76, O00207, Q14429, Q14430, Q14431, Q16564

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	April 1, 1990
Last modified:	May 1, 2013
This is version 142 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.