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Granulocyte-macrophage colony-stimulating factor receptor subunit alpha (GM-CSF-R-alpha) (GMCSFR-alpha) (GMR-alpha) (CDw116) (CD antigen CD116)

 CSF2R_HUMAN             Reviewed;         400 AA.
P15509; A7J003; A8KAM1; B4DW68; J3JS76; J3JS77; O00207; Q14429;
Q14430; Q14431; Q16564;
01-APR-1990, integrated into UniProtKB/Swiss-Prot.
01-APR-1990, sequence version 1.
25-OCT-2017, entry version 185.
RecName: Full=Granulocyte-macrophage colony-stimulating factor receptor subunit alpha;
Short=GM-CSF-R-alpha;
Short=GMCSFR-alpha;
Short=GMR-alpha;
AltName: Full=CDw116;
AltName: CD_antigen=CD116;
Flags: Precursor;
Name=CSF2RA; Synonyms=CSF2R, CSF2RY;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Placenta;
PubMed=2555171;
Gearing D.P., King J.A., Gough N.M., Nicola N.A.;
"Expression cloning of a receptor for human granulocyte-macrophage
colony-stimulating factor.";
EMBO J. 8:3667-3676(1989).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
PubMed=8144676;
Nakagawa Y., Kosugi H., Miyajima A., Arai K., Yokota T.;
"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.";
J. Biol. Chem. 269:10905-10912(1994).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
PubMed=1715577; DOI=10.1073/pnas.88.17.7744;
Crosier K.E., Wong G.G., Mathey-Prevot B., Nathan D.G., Sieff C.A.;
"A functional isoform of the human granulocyte/macrophage colony-
stimulating factor receptor has an unusual cytoplasmic domain.";
Proc. Natl. Acad. Sci. U.S.A. 88:7744-7748(1991).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
TISSUE=Placenta;
PubMed=2148207; DOI=10.1093/nar/18.23.7178;
Ashworth A., Kraft A.;
"Cloning of a potentially soluble receptor for human GM-CSF.";
Nucleic Acids Res. 18:7178-7178(1990).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
PubMed=1832774; DOI=10.1073/pnas.88.18.8203;
Raines M.A., Liu L., Quan S.G., Joe V., DiPersio J.F., Golde D.W.;
"Identification and molecular cloning of a soluble human granulocyte-
macrophage colony-stimulating factor receptor.";
Proc. Natl. Acad. Sci. U.S.A. 88:8203-8207(1991).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
TISSUE=Blood;
PubMed=8086503; DOI=10.1016/0167-4889(94)90241-0;
Hu X., Emanuel P.D., Zuckerman K.S.;
"Cloning and sequencing of the cDNAs encoding two alternative
splicing-derived variants of the alpha subunit of the granulocyte-
macrophage colony-stimulating factor receptor.";
Biochim. Biophys. Acta 1223:306-308(1994).
[7]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
Hu X., Zuckerman K.S.;
"Cloning and sequencing of the cDNA variant with 397 bp missing for
the GM-CSF receptor alpha subunit.";
Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
PubMed=17681666; DOI=10.1016/j.exphem.2007.06.008;
Pelley J.L., Nicholls C.D., Beattie T.L., Brown C.B.;
"Discovery and characterization of a novel splice variant of the GM-
CSF receptor alpha subunit.";
Exp. Hematol. 35:1483-1494(2007).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 8).
TISSUE=Synovium, and Uterus;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
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.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[11]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Placenta, and Uterus;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[12]
NUCLEOTIDE SEQUENCE OF 376-400.
PubMed=1358805; DOI=10.1016/S0888-7543(05)80241-1;
Rappold G., Willson T.A., Henke A., Gough N.M.;
"Arrangement and localization of the human GM-CSF receptor alpha chain
gene CSF2RA within the X-Y pseudoautosomal region.";
Genomics 14:455-461(1992).
[13]
INVOLVEMENT IN SMDP4.
PubMed=18955567; DOI=10.1084/jem.20080759;
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.;
"Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha
gene in the X chromosome pseudoautosomal region 1.";
J. Exp. Med. 205:2711-2716(2008).
[14]
X-RAY CRYSTALLOGRAPHY (3.3 ANGSTROMS) OF 218-320 IN COMPLEX WITH
CSF2RB AND CSF2, SUBUNIT, AND GLYCOSYLATION AT ASN-229.
PubMed=18692472; DOI=10.1016/j.cell.2008.05.053;
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.;
"The structure of the GM-CSF receptor complex reveals a distinct mode
of cytokine receptor activation.";
Cell 134:496-507(2008).
[15]
VARIANT SMDP4 ARG-196.
PubMed=18955570; DOI=10.1084/jem.20080990;
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.;
"Familial pulmonary alveolar proteinosis caused by mutations in
CSF2RA.";
J. Exp. Med. 205:2703-2710(2008).
-!- 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: 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.
{ECO:0000269|PubMed:18692472}.
-!- INTERACTION:
Q969F0:FATE1; NbExp=3; IntAct=EBI-1763264, EBI-743099;
-!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane
protein.
-!- SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.
-!- SUBCELLULAR LOCATION: Isoform 4: Secreted {ECO:0000305}.
-!- SUBCELLULAR LOCATION: Isoform 6: Secreted {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=8;
Name=1;
IsoId=P15509-1; Sequence=Displayed;
Name=2;
IsoId=P15509-2; Sequence=VSP_001670;
Name=3;
IsoId=P15509-3; Sequence=VSP_001668, VSP_001669;
Name=4;
IsoId=P15509-4; Sequence=VSP_001665, VSP_001666;
Name=5;
IsoId=P15509-5; Sequence=VSP_001667;
Name=6;
IsoId=P15509-6; Sequence=VSP_001663, VSP_001664;
Name=7; Synonyms=Alu-GMRalpha;
IsoId=P15509-7; Sequence=VSP_043715;
Name=8;
IsoId=P15509-8; Sequence=VSP_044272;
-!- DOMAIN: The WSXWS motif appears to be necessary for proper protein
folding and thereby efficient intracellular transport and cell-
surface receptor binding.
-!- DOMAIN: The box 1 motif is required for JAK interaction and/or
activation.
-!- 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.
{ECO:0000269|PubMed:18955567, ECO:0000269|PubMed:18955570}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- MISCELLANEOUS: The gene coding for this protein is located in the
pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
-!- SIMILARITY: Belongs to the type I cytokine receptor family. Type 5
subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAA60962.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};
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EMBL; X17648; CAA35638.1; -; mRNA.
EMBL; D26628; BAA05656.1; -; Genomic_DNA.
EMBL; M64445; AAA35908.1; -; mRNA.
EMBL; X54935; CAA38697.1; -; mRNA.
EMBL; M73832; AAA35909.1; -; mRNA.
EMBL; L29348; AAA60961.1; -; mRNA.
EMBL; L29349; AAA60962.1; ALT_SEQ; mRNA.
EMBL; U93096; AAB51535.1; -; mRNA.
EMBL; DQ841258; ABI32309.1; -; mRNA.
EMBL; AK293086; BAF85775.1; -; mRNA.
EMBL; AK301395; BAG62930.1; -; mRNA.
EMBL; BX649553; CAI95727.1; -; Genomic_DNA.
EMBL; BC002635; AAH02635.1; -; mRNA.
EMBL; BC071835; AAH71835.1; -; mRNA.
CCDS; CCDS35190.1; -. [P15509-5]
CCDS; CCDS35191.1; -. [P15509-1]
CCDS; CCDS35192.1; -. [P15509-3]
CCDS; CCDS35193.1; -. [P15509-6]
CCDS; CCDS55359.1; -. [P15509-7]
CCDS; CCDS55360.1; -. [P15509-2]
CCDS; CCDS55361.1; -. [P15509-8]
PIR; S06945; S06945.
PIR; S13684; S13684.
PIR; S50039; S50039.
PIR; S50040; S50040.
RefSeq; NP_001155001.1; NM_001161529.1. [P15509-1]
RefSeq; NP_001155002.1; NM_001161530.1. [P15509-7]
RefSeq; NP_001155003.1; NM_001161531.1. [P15509-2]
RefSeq; NP_001155004.1; NM_001161532.1. [P15509-8]
RefSeq; NP_006131.2; NM_006140.4. [P15509-1]
RefSeq; NP_758448.1; NM_172245.2. [P15509-1]
RefSeq; NP_758449.1; NM_172246.2. [P15509-5]
RefSeq; NP_758450.1; NM_172247.2. [P15509-3]
RefSeq; NP_758452.1; NM_172249.2. [P15509-6]
RefSeq; XP_011543920.1; XM_011545618.2. [P15509-2]
RefSeq; XP_011543921.1; XM_011545619.1. [P15509-1]
RefSeq; XP_011543928.1; XM_011545626.1. [P15509-3]
RefSeq; XP_011543929.1; XM_011545627.2. [P15509-3]
RefSeq; XP_011543930.1; XM_011545628.2. [P15509-3]
RefSeq; XP_011544467.1; XM_011546165.2. [P15509-2]
RefSeq; XP_011544468.1; XM_011546166.1. [P15509-1]
RefSeq; XP_011544475.1; XM_011546173.1. [P15509-3]
RefSeq; XP_011544476.1; XM_011546174.2. [P15509-3]
RefSeq; XP_011544477.1; XM_011546175.2. [P15509-3]
RefSeq; XP_016884777.1; XM_017029288.1. [P15509-3]
RefSeq; XP_016885518.1; XM_017030029.1. [P15509-3]
UniGene; Hs.520937; -.
PDB; 4NKQ; X-ray; 3.30 A; C=113-400.
PDB; 4RS1; X-ray; 2.68 A; B=35-315.
PDBsum; 4NKQ; -.
PDBsum; 4RS1; -.
ProteinModelPortal; P15509; -.
SMR; P15509; -.
BioGrid; 107825; 6.
CORUM; P15509; -.
DIP; DIP-635N; -.
IntAct; P15509; 5.
MINT; MINT-7242386; -.
ChEMBL; CHEMBL2364169; -.
DrugBank; DB05194; KB002.
DrugBank; DB05386; recombinant human GM-CSF.
DrugBank; DB00020; Sargramostim.
GuidetoPHARMACOLOGY; 1707; -.
iPTMnet; P15509; -.
PhosphoSitePlus; P15509; -.
BioMuta; CSF2RA; -.
DMDM; 121509; -.
MaxQB; P15509; -.
PeptideAtlas; P15509; -.
PRIDE; P15509; -.
DNASU; 1438; -.
Ensembl; ENST00000355432; ENSP00000347606; ENSG00000198223. [P15509-5]
Ensembl; ENST00000355805; ENSP00000348058; ENSG00000198223. [P15509-6]
Ensembl; ENST00000381500; ENSP00000370911; ENSG00000198223. [P15509-3]
Ensembl; ENST00000381509; ENSP00000370920; ENSG00000198223. [P15509-2]
Ensembl; ENST00000381524; ENSP00000370935; ENSG00000198223. [P15509-1]
Ensembl; ENST00000381529; ENSP00000370940; ENSG00000198223. [P15509-1]
Ensembl; ENST00000417535; ENSP00000394227; ENSG00000198223. [P15509-7]
Ensembl; ENST00000432318; ENSP00000416437; ENSG00000198223. [P15509-1]
Ensembl; ENST00000501036; ENSP00000440491; ENSG00000198223. [P15509-8]
GeneID; 1438; -.
KEGG; hsa:1438; -.
UCSC; uc004cpn.3; human. [P15509-1]
CTD; 1438; -.
DisGeNET; 1438; -.
EuPathDB; HostDB:ENSG00000198223.15; -.
GeneCards; CSF2RA; -.
HGNC; HGNC:2435; CSF2RA.
HPA; CAB016148; -.
MalaCards; CSF2RA; -.
MIM; 300770; phenotype.
MIM; 306250; gene.
MIM; 425000; gene.
neXtProt; NX_P15509; -.
OpenTargets; ENSG00000198223; -.
Orphanet; 264675; Congenital pulmonary alveolar proteinosis.
PharmGKB; PA26938; -.
GeneTree; ENSGT00520000055993; -.
HOGENOM; HOG000004539; -.
HOVERGEN; HBG103561; -.
InParanoid; P15509; -.
KO; K05066; -.
OMA; YLDFQYQ; -.
OrthoDB; EOG091G0935; -.
PhylomeDB; P15509; -.
TreeFam; TF331549; -.
Reactome; R-HSA-114604; GPVI-mediated activation cascade.
Reactome; R-HSA-392451; G beta:gamma signalling through PI3Kgamma.
Reactome; R-HSA-512988; Interleukin-3, 5 and GM-CSF signaling.
Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
Reactome; R-HSA-5683826; Surfactant metabolism.
Reactome; R-HSA-5688849; Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5).
Reactome; R-HSA-5688890; Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4).
Reactome; R-HSA-912526; Interleukin receptor SHC signaling.
SignaLink; P15509; -.
SIGNOR; P15509; -.
EvolutionaryTrace; P15509; -.
GenomeRNAi; 1438; -.
PRO; PR:P15509; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000198223; -.
CleanEx; HS_CSF2RA; -.
ExpressionAtlas; P15509; baseline and differential.
Genevisible; P15509; HS.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0005622; C:intracellular; IEA:GOC.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0004896; F:cytokine receptor activity; IEA:InterPro.
GO; GO:0004713; F:protein tyrosine kinase activity; TAS:Reactome.
GO; GO:0005088; F:Ras guanyl-nucleotide exchange factor activity; TAS:Reactome.
GO; GO:0004872; F:receptor activity; TAS:ProtInc.
GO; GO:0044267; P:cellular protein metabolic process; TAS:Reactome.
GO; GO:0000165; P:MAPK cascade; TAS:Reactome.
Gene3D; 2.60.40.10; -; 2.
InterPro; IPR003961; FN3_dom.
InterPro; IPR036116; FN3_sf.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR003532; Short_hematopoietin_rcpt_2_CS.
InterPro; IPR015321; TypeI_recpt_CBD.
Pfam; PF09240; IL6Ra-bind; 1.
SUPFAM; SSF49265; SSF49265; 2.
PROSITE; PS50853; FN3; 1.
PROSITE; PS01356; HEMATOPO_REC_S_F2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Complete proteome;
Disease mutation; Disulfide bond; Glycoprotein; Membrane; Receptor;
Reference proteome; Secreted; Signal; Transmembrane;
Transmembrane helix.
SIGNAL 1 22
CHAIN 23 400 Granulocyte-macrophage colony-stimulating
factor receptor subunit alpha.
/FTId=PRO_0000010872.
TOPO_DOM 23 320 Extracellular. {ECO:0000255}.
TRANSMEM 321 346 Helical. {ECO:0000255}.
TOPO_DOM 347 400 Cytoplasmic. {ECO:0000255}.
DOMAIN 220 320 Fibronectin type-III.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
MOTIF 306 310 WSXWS motif.
MOTIF 355 363 Box 1 motif.
CARBOHYD 46 46 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 54 54 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 99 99 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 123 123 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 135 135 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 182 182 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 195 195 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 223 223 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 229 229 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:18692472}.
CARBOHYD 272 272 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 305 305 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 126 136 {ECO:0000250}.
DISULFID 165 178 {ECO:0000250}.
VAR_SEQ 1 133 Missing (in isoform 8).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_044272.
VAR_SEQ 216 233 ERFNPPSNVTVRCNTTHC -> GSLGYSGCSRQFHRSKTN
(in isoform 6). {ECO:0000303|Ref.7}.
/FTId=VSP_001663.
VAR_SEQ 234 400 Missing (in isoform 6).
{ECO:0000303|Ref.7}.
/FTId=VSP_001664.
VAR_SEQ 271 286 INVSGDLENRYNFPSS -> VVLTTGTSALCTFMCS (in
isoform 4). {ECO:0000303|PubMed:8086503}.
/FTId=VSP_001665.
VAR_SEQ 287 400 Missing (in isoform 4).
{ECO:0000303|PubMed:8086503}.
/FTId=VSP_001666.
VAR_SEQ 315 315 F -> FGSHSVTQAGVQWHNLGSLQPPSPRLKRFSCLRLP
(in isoform 7).
{ECO:0000303|PubMed:17681666}.
/FTId=VSP_043715.
VAR_SEQ 316 400 GSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLF
PPVPQIKDKLNDNHEVEDEIIWEEFTPEEGKGYREEVLTVK
EIT -> DHLGGIHPRGRERLPRRGLDREGNYLRPRGCRNG
MDISASATRGNCFLDDAVNLYIIFYVFI (in isoform
5). {ECO:0000303|PubMed:8086503}.
/FTId=VSP_001667.
VAR_SEQ 318 333 DDGNLGSVYIYVLLIV -> LGYSGCSRQFHRSKTN (in
isoform 3). {ECO:0000303|PubMed:1832774,
ECO:0000303|PubMed:2148207}.
/FTId=VSP_001668.
VAR_SEQ 334 400 Missing (in isoform 3).
{ECO:0000303|PubMed:1832774,
ECO:0000303|PubMed:2148207}.
/FTId=VSP_001669.
VAR_SEQ 376 400 IIWEEFTPEEGKGYREEVLTVKEIT -> MGPQRHHRCGWN
LYPTPGPSPGSGSSPRLGSESSL (in isoform 2).
{ECO:0000303|PubMed:1715577}.
/FTId=VSP_001670.
VARIANT 196 196 G -> R (in SMDP4; dbSNP:rs137852353).
{ECO:0000269|PubMed:18955570}.
/FTId=VAR_058507.
STRAND 42 44 {ECO:0000244|PDB:4RS1}.
STRAND 46 48 {ECO:0000244|PDB:4RS1}.
STRAND 59 67 {ECO:0000244|PDB:4RS1}.
STRAND 69 72 {ECO:0000244|PDB:4RS1}.
STRAND 80 82 {ECO:0000244|PDB:4RS1}.
STRAND 89 97 {ECO:0000244|PDB:4RS1}.
STRAND 122 129 {ECO:0000244|PDB:4RS1}.
TURN 130 132 {ECO:0000244|PDB:4RS1}.
STRAND 133 139 {ECO:0000244|PDB:4RS1}.
STRAND 149 155 {ECO:0000244|PDB:4RS1}.
STRAND 166 181 {ECO:0000244|PDB:4RS1}.
STRAND 188 197 {ECO:0000244|PDB:4RS1}.
STRAND 199 201 {ECO:0000244|PDB:4RS1}.
STRAND 206 211 {ECO:0000244|PDB:4RS1}.
HELIX 212 215 {ECO:0000244|PDB:4RS1}.
STRAND 222 227 {ECO:0000244|PDB:4RS1}.
STRAND 233 238 {ECO:0000244|PDB:4RS1}.
HELIX 248 250 {ECO:0000244|PDB:4RS1}.
STRAND 251 259 {ECO:0000244|PDB:4RS1}.
STRAND 260 262 {ECO:0000244|PDB:4NKQ}.
STRAND 268 274 {ECO:0000244|PDB:4RS1}.
STRAND 280 283 {ECO:0000244|PDB:4RS1}.
STRAND 292 300 {ECO:0000244|PDB:4RS1}.
TURN 301 303 {ECO:0000244|PDB:4RS1}.
SEQUENCE 400 AA; 46207 MW; D9025B981E41311D CRC64;
MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC
FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA
AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL
DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP
RTYQKLSYLD FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD
VRILNWSSWS EAIEFGSDDG NLGSVYIYVL LIVGTLVCGI VLGFLFKRFL RIQRLFPPVP
QIKDKLNDNH EVEDEIIWEE FTPEEGKGYR EEVLTVKEIT


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