CSF2R_HUMAN
ID CSF2R_HUMAN Reviewed; 400 AA.
AC P15509; A7J003; A8KAM1; B4DW68; J3JS76; J3JS77; O00207; Q14429; Q14430;
AC Q14431; Q16564;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
DT 01-APR-1990, sequence version 1.
DT 03-AUG-2022, entry version 214.
DE RecName: Full=Granulocyte-macrophage colony-stimulating factor receptor subunit alpha;
DE Short=GM-CSF-R-alpha;
DE Short=GMCSFR-alpha;
DE Short=GMR-alpha;
DE AltName: Full=CDw116;
DE AltName: CD_antigen=CD116;
DE Flags: Precursor;
GN Name=CSF2RA; Synonyms=CSF2R, CSF2RY;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=2555171; DOI=10.1002/j.1460-2075.1989.tb08541.x;
RA Gearing D.P., King J.A., Gough N.M., Nicola N.A.;
RT "Expression cloning of a receptor for human granulocyte-macrophage colony-
RT stimulating factor.";
RL EMBO J. 8:3667-3676(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RX PubMed=8144676; DOI=10.1016/s0021-9258(17)34144-3;
RA Nakagawa Y., Kosugi H., Miyajima A., Arai K., Yokota T.;
RT "Structure of the gene encoding the alpha subunit of the human granulocyte-
RT macrophage colony stimulating factor receptor. Implications for the
RT evolution of the cytokine receptor superfamily.";
RL J. Biol. Chem. 269:10905-10912(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RX PubMed=1715577; DOI=10.1073/pnas.88.17.7744;
RA Crosier K.E., Wong G.G., Mathey-Prevot B., Nathan D.G., Sieff C.A.;
RT "A functional isoform of the human granulocyte/macrophage colony-
RT stimulating factor receptor has an unusual cytoplasmic domain.";
RL Proc. Natl. Acad. Sci. U.S.A. 88:7744-7748(1991).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Placenta;
RX PubMed=2148207; DOI=10.1093/nar/18.23.7178;
RA Ashworth A., Kraft A.;
RT "Cloning of a potentially soluble receptor for human GM-CSF.";
RL Nucleic Acids Res. 18:7178-7178(1990).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RX PubMed=1832774; DOI=10.1073/pnas.88.18.8203;
RA Raines M.A., Liu L., Quan S.G., Joe V., DiPersio J.F., Golde D.W.;
RT "Identification and molecular cloning of a soluble human granulocyte-
RT macrophage colony-stimulating factor receptor.";
RL Proc. Natl. Acad. Sci. U.S.A. 88:8203-8207(1991).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
RC TISSUE=Blood;
RX PubMed=8086503; DOI=10.1016/0167-4889(94)90241-0;
RA Hu X., Emanuel P.D., Zuckerman K.S.;
RT "Cloning and sequencing of the cDNAs encoding two alternative splicing-
RT derived variants of the alpha subunit of the granulocyte-macrophage colony-
RT stimulating factor receptor.";
RL Biochim. Biophys. Acta 1223:306-308(1994).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
RA Hu X., Zuckerman K.S.;
RT "Cloning and sequencing of the cDNA variant with 397 bp missing for the GM-
RT CSF receptor alpha subunit.";
RL Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
RX PubMed=17681666; DOI=10.1016/j.exphem.2007.06.008;
RA Pelley J.L., Nicholls C.D., Beattie T.L., Brown C.B.;
RT "Discovery and characterization of a novel splice variant of the GM-CSF
RT receptor alpha subunit.";
RL Exp. Hematol. 35:1483-1494(2007).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 8).
RC TISSUE=Synovium, and Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [11]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [12]
RP NUCLEOTIDE SEQUENCE OF 376-400.
RX PubMed=1358805; DOI=10.1016/s0888-7543(05)80241-1;
RA Rappold G., Willson T.A., Henke A., Gough N.M.;
RT "Arrangement and localization of the human GM-CSF receptor alpha chain gene
RT CSF2RA within the X-Y pseudoautosomal region.";
RL Genomics 14:455-461(1992).
RN [13]
RP INVOLVEMENT IN SMDP4.
RX PubMed=18955567; DOI=10.1084/jem.20080759;
RA Martinez-Moczygemba M., Doan M.L., Elidemir O., Fan L.L., Cheung S.W.,
RA Lei J.T., Moore J.P., Tavana G., Lewis L.R., Zhu Y., Muzny D.M.,
RA Gibbs R.A., Huston D.P.;
RT "Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene
RT in the X chromosome pseudoautosomal region 1.";
RL J. Exp. Med. 205:2711-2716(2008).
RN [14]
RP X-RAY CRYSTALLOGRAPHY (3.3 ANGSTROMS) OF 218-320 IN COMPLEX WITH CSF2RB AND
RP CSF2, SUBUNIT, AND GLYCOSYLATION AT ASN-229.
RX PubMed=18692472; DOI=10.1016/j.cell.2008.05.053;
RA Hansen G., Hercus T.R., McClure B.J., Stomski F.C., Dottore M., Powell J.,
RA Ramshaw H., Woodcock J.M., Xu Y., Guthridge M., McKinstry W.J., Lopez A.F.,
RA Parker M.W.;
RT "The structure of the GM-CSF receptor complex reveals a distinct mode of
RT cytokine receptor activation.";
RL Cell 134:496-507(2008).
RN [15]
RP VARIANT SMDP4 ARG-196.
RX PubMed=18955570; DOI=10.1084/jem.20080990;
RA Suzuki T., Sakagami T., Rubin B.K., Nogee L.M., Wood R.E., Zimmerman S.L.,
RA Smolarek T., Dishop M.K., Wert S.E., Whitsett J.A., Grabowski G.,
RA Carey B.C., Stevens C., van der Loo J.C., Trapnell B.C.;
RT "Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.";
RL J. Exp. Med. 205:2703-2710(2008).
CC -!- FUNCTION: Low affinity receptor for granulocyte-macrophage colony-
CC stimulating factor. Transduces a signal that results in the
CC proliferation, differentiation, and functional activation of
CC hematopoietic cells.
CC -!- SUBUNIT: Heterodimer of an alpha and a beta subunit. The beta subunit
CC is common to the IL3, IL5 and GM-CSF receptors. The signaling GM-CSF
CC receptor complex is a dodecamer of two head-to-head hexamers of two
CC alpha, two beta, and two ligand subunits.
CC {ECO:0000269|PubMed:18692472}.
CC -!- INTERACTION:
CC P15509; Q969F0: FATE1; NbExp=3; IntAct=EBI-1763264, EBI-743099;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane
CC protein.
CC -!- SUBCELLULAR LOCATION: [Isoform 3]: Secreted {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: [Isoform 4]: Secreted {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: [Isoform 6]: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=8;
CC Name=1;
CC IsoId=P15509-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P15509-2; Sequence=VSP_001670;
CC Name=3;
CC IsoId=P15509-3; Sequence=VSP_001668, VSP_001669;
CC Name=4;
CC IsoId=P15509-4; Sequence=VSP_001665, VSP_001666;
CC Name=5;
CC IsoId=P15509-5; Sequence=VSP_001667;
CC Name=6;
CC IsoId=P15509-6; Sequence=VSP_001663, VSP_001664;
CC Name=7; Synonyms=Alu-GMRalpha;
CC IsoId=P15509-7; Sequence=VSP_043715;
CC Name=8;
CC IsoId=P15509-8; Sequence=VSP_044272;
CC -!- DOMAIN: The WSXWS motif appears to be necessary for proper protein
CC folding and thereby efficient intracellular transport and cell-surface
CC receptor binding.
CC -!- DOMAIN: The box 1 motif is required for JAK interaction and/or
CC activation.
CC -!- DISEASE: Pulmonary surfactant metabolism dysfunction 4 (SMDP4)
CC [MIM:300770]: A rare lung disorder due to impaired surfactant
CC homeostasis. It is characterized by alveolar filling with floccular
CC material that stains positive using the periodic acid-Schiff method and
CC is derived from surfactant phospholipids and protein components.
CC Excessive lipoproteins accumulation in the alveoli results in severe
CC respiratory distress. {ECO:0000269|PubMed:18955567,
CC ECO:0000269|PubMed:18955570}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: The gene coding for this protein is located in the
CC pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
CC -!- SIMILARITY: Belongs to the type I cytokine receptor family. Type 5
CC subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA60962.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};
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DR EMBL; X17648; CAA35638.1; -; mRNA.
DR EMBL; D26628; BAA05656.1; -; Genomic_DNA.
DR EMBL; M64445; AAA35908.1; -; mRNA.
DR EMBL; X54935; CAA38697.1; -; mRNA.
DR EMBL; M73832; AAA35909.1; -; mRNA.
DR EMBL; L29348; AAA60961.1; -; mRNA.
DR EMBL; L29349; AAA60962.1; ALT_SEQ; mRNA.
DR EMBL; U93096; AAB51535.1; -; mRNA.
DR EMBL; DQ841258; ABI32309.1; -; mRNA.
DR EMBL; AK293086; BAF85775.1; -; mRNA.
DR EMBL; AK301395; BAG62930.1; -; mRNA.
DR EMBL; BX649553; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC002635; AAH02635.1; -; mRNA.
DR EMBL; BC071835; AAH71835.1; -; mRNA.
DR CCDS; CCDS35190.1; -. [P15509-5]
DR CCDS; CCDS35191.1; -. [P15509-1]
DR CCDS; CCDS35192.1; -. [P15509-3]
DR CCDS; CCDS35193.1; -. [P15509-6]
DR CCDS; CCDS55359.1; -. [P15509-7]
DR CCDS; CCDS55360.1; -. [P15509-2]
DR CCDS; CCDS55361.1; -. [P15509-8]
DR PIR; S06945; S06945.
DR PIR; S13684; S13684.
DR PIR; S50039; S50039.
DR PIR; S50040; S50040.
DR RefSeq; NP_001155001.1; NM_001161529.1. [P15509-1]
DR RefSeq; NP_001155002.1; NM_001161530.1. [P15509-7]
DR RefSeq; NP_001155003.1; NM_001161531.1. [P15509-2]
DR RefSeq; NP_001155004.1; NM_001161532.1. [P15509-8]
DR RefSeq; NP_006131.2; NM_006140.4. [P15509-1]
DR RefSeq; NP_758448.1; NM_172245.2. [P15509-1]
DR RefSeq; NP_758449.1; NM_172246.2. [P15509-5]
DR RefSeq; NP_758450.1; NM_172247.2. [P15509-3]
DR RefSeq; NP_758452.1; NM_172249.2. [P15509-6]
DR RefSeq; XP_011543920.1; XM_011545618.2. [P15509-2]
DR RefSeq; XP_011543921.1; XM_011545619.1.
DR RefSeq; XP_011543928.1; XM_011545626.1.
DR RefSeq; XP_011543929.1; XM_011545627.2. [P15509-3]
DR RefSeq; XP_011543930.1; XM_011545628.2. [P15509-3]
DR RefSeq; XP_011544467.1; XM_011546165.2. [P15509-2]
DR RefSeq; XP_011544468.1; XM_011546166.1.
DR RefSeq; XP_011544475.1; XM_011546173.1.
DR RefSeq; XP_011544476.1; XM_011546174.2. [P15509-3]
DR RefSeq; XP_011544477.1; XM_011546175.2. [P15509-3]
DR RefSeq; XP_016884777.1; XM_017029288.1.
DR RefSeq; XP_016885518.1; XM_017030029.1.
DR PDB; 4NKQ; X-ray; 3.30 A; C=113-400.
DR PDB; 4RS1; X-ray; 2.68 A; B=35-315.
DR PDBsum; 4NKQ; -.
DR PDBsum; 4RS1; -.
DR AlphaFoldDB; P15509; -.
DR SMR; P15509; -.
DR BioGRID; 107825; 8.
DR ComplexPortal; CPX-512; Granulocyte-macrophage colony-stimulating factor-receptor complex.
DR CORUM; P15509; -.
DR DIP; DIP-635N; -.
DR IntAct; P15509; 5.
DR STRING; 9606.ENSP00000394227; -.
DR ChEMBL; CHEMBL2364169; -.
DR DrugBank; DB11338; Clove oil.
DR DrugBank; DB10770; Foreskin fibroblast (neonatal).
DR DrugBank; DB10772; Foreskin keratinocyte (neonatal).
DR DrugBank; DB05194; KB002.
DR DrugBank; DB05386; Regramostim.
DR DrugBank; DB00020; Sargramostim.
DR DrugCentral; P15509; -.
DR GuidetoPHARMACOLOGY; 1707; -.
DR GlyGen; P15509; 11 sites.
DR iPTMnet; P15509; -.
DR PhosphoSitePlus; P15509; -.
DR BioMuta; CSF2RA; -.
DR DMDM; 121509; -.
DR jPOST; P15509; -.
DR MassIVE; P15509; -.
DR MaxQB; P15509; -.
DR PeptideAtlas; P15509; -.
DR PRIDE; P15509; -.
DR ProteomicsDB; 5314; -.
DR ProteomicsDB; 53157; -. [P15509-1]
DR ProteomicsDB; 53158; -. [P15509-2]
DR ProteomicsDB; 53159; -. [P15509-3]
DR ProteomicsDB; 53160; -. [P15509-4]
DR ProteomicsDB; 53161; -. [P15509-5]
DR ProteomicsDB; 53162; -. [P15509-6]
DR ProteomicsDB; 53163; -. [P15509-7]
DR ABCD; P15509; 20 sequenced antibodies.
DR Antibodypedia; 4251; 755 antibodies from 42 providers.
DR CPTC; P15509; 1 antibody.
DR DNASU; 1438; -.
DR Ensembl; ENST00000355432.8; ENSP00000347606.3; ENSG00000198223.17. [P15509-5]
DR Ensembl; ENST00000355805.7; ENSP00000348058.2; ENSG00000198223.17. [P15509-6]
DR Ensembl; ENST00000381500.6; ENSP00000370911.1; ENSG00000198223.17. [P15509-3]
DR Ensembl; ENST00000381509.8; ENSP00000370920.3; ENSG00000198223.17. [P15509-2]
DR Ensembl; ENST00000381524.8; ENSP00000370935.3; ENSG00000198223.17. [P15509-1]
DR Ensembl; ENST00000381529.9; ENSP00000370940.3; ENSG00000198223.17. [P15509-1]
DR Ensembl; ENST00000417535.7; ENSP00000394227.2; ENSG00000198223.17. [P15509-7]
DR Ensembl; ENST00000432318.8; ENSP00000416437.2; ENSG00000198223.17. [P15509-1]
DR Ensembl; ENST00000501036.7; ENSP00000440491.1; ENSG00000198223.17. [P15509-8]
DR GeneID; 1438; -.
DR KEGG; hsa:1438; -.
DR MANE-Select; ENST00000381529.9; ENSP00000370940.3; NM_172245.4; NP_758448.1.
DR UCSC; uc004cpn.3; human. [P15509-1]
DR CTD; 1438; -.
DR DisGeNET; 1438; -.
DR GeneCards; CSF2RA; -.
DR HGNC; HGNC:2435; CSF2RA.
DR HPA; ENSG00000198223; Tissue enhanced (placenta).
DR MalaCards; CSF2RA; -.
DR MIM; 300770; phenotype.
DR MIM; 306250; gene.
DR MIM; 425000; gene.
DR neXtProt; NX_P15509; -.
DR OpenTargets; ENSG00000198223; -.
DR Orphanet; 264675; Hereditary pulmonary alveolar proteinosis.
DR PharmGKB; PA26938; -.
DR VEuPathDB; HostDB:ENSG00000198223; -.
DR eggNOG; ENOG502RZVR; Eukaryota.
DR GeneTree; ENSGT00520000055993; -.
DR HOGENOM; CLU_039627_2_0_1; -.
DR InParanoid; P15509; -.
DR OMA; DIQTEYV; -.
DR OrthoDB; 1201451at2759; -.
DR PhylomeDB; P15509; -.
DR TreeFam; TF331549; -.
DR PathwayCommons; P15509; -.
DR Reactome; R-HSA-512988; Interleukin-3, Interleukin-5 and GM-CSF signaling.
DR Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
DR Reactome; R-HSA-5683826; Surfactant metabolism.
DR Reactome; R-HSA-5688849; Defective CSF2RB causes SMDP5.
DR Reactome; R-HSA-5688890; Defective CSF2RA causes SMDP4.
DR Reactome; R-HSA-912526; Interleukin receptor SHC signaling.
DR SignaLink; P15509; -.
DR SIGNOR; P15509; -.
DR BioGRID-ORCS; 1438; 6 hits in 567 CRISPR screens.
DR ChiTaRS; CSF2RA; human.
DR EvolutionaryTrace; P15509; -.
DR GenomeRNAi; 1438; -.
DR Pharos; P15509; Tclin.
DR PRO; PR:P15509; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P15509; protein.
DR Bgee; ENSG00000198223; Expressed in monocyte and 121 other tissues.
DR ExpressionAtlas; P15509; baseline and differential.
DR Genevisible; P15509; HS.
DR GO; GO:0009897; C:external side of plasma membrane; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0030526; C:granulocyte macrophage colony-stimulating factor receptor complex; IDA:ComplexPortal.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0005886; C:plasma membrane; EXP:ComplexPortal.
DR GO; GO:0043235; C:receptor complex; IBA:GO_Central.
DR GO; GO:0019955; F:cytokine binding; IBA:GO_Central.
DR GO; GO:0004896; F:cytokine receptor activity; IBA:GO_Central.
DR GO; GO:0038023; F:signaling receptor activity; TAS:ProtInc.
DR GO; GO:0019221; P:cytokine-mediated signaling pathway; IBA:GO_Central.
DR GO; GO:0038157; P:granulocyte-macrophage colony-stimulating factor signaling pathway; IDA:ComplexPortal.
DR GO; GO:0070665; P:positive regulation of leukocyte proliferation; IDA:ComplexPortal.
DR GO; GO:0006468; P:protein phosphorylation; IDA:ComplexPortal.
DR GO; GO:0007259; P:receptor signaling pathway via JAK-STAT; IDA:ComplexPortal.
DR Gene3D; 2.60.40.10; -; 2.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR040907; IL3Ra_N.
DR InterPro; IPR003532; Short_hematopoietin_rcpt_2_CS.
DR InterPro; IPR015321; TypeI_recpt_CBD.
DR Pfam; PF18611; IL3Ra_N; 1.
DR Pfam; PF09240; IL6Ra-bind; 1.
DR SUPFAM; SSF49265; SSF49265; 2.
DR PROSITE; PS50853; FN3; 1.
DR PROSITE; PS01356; HEMATOPO_REC_S_F2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell membrane; Disease variant;
KW Disulfide bond; Glycoprotein; Membrane; Receptor; Reference proteome;
KW Secreted; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..22
FT CHAIN 23..400
FT /note="Granulocyte-macrophage colony-stimulating factor
FT receptor subunit alpha"
FT /id="PRO_0000010872"
FT TOPO_DOM 23..320
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 321..346
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 347..400
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 220..320
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT MOTIF 306..310
FT /note="WSXWS motif"
FT MOTIF 355..363
FT /note="Box 1 motif"
FT CARBOHYD 46
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 54
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 99
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 123
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 135
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 182
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 195
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 223
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 229
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:18692472"
FT CARBOHYD 272
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 305
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 126..136
FT /evidence="ECO:0000250"
FT DISULFID 165..178
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..133
FT /note="Missing (in isoform 8)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044272"
FT VAR_SEQ 216..233
FT /note="ERFNPPSNVTVRCNTTHC -> GSLGYSGCSRQFHRSKTN (in isoform
FT 6)"
FT /evidence="ECO:0000303|Ref.7"
FT /id="VSP_001663"
FT VAR_SEQ 234..400
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|Ref.7"
FT /id="VSP_001664"
FT VAR_SEQ 271..286
FT /note="INVSGDLENRYNFPSS -> VVLTTGTSALCTFMCS (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:8086503"
FT /id="VSP_001665"
FT VAR_SEQ 287..400
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:8086503"
FT /id="VSP_001666"
FT VAR_SEQ 315
FT /note="F -> FGSHSVTQAGVQWHNLGSLQPPSPRLKRFSCLRLP (in isoform
FT 7)"
FT /evidence="ECO:0000303|PubMed:17681666"
FT /id="VSP_043715"
FT VAR_SEQ 316..400
FT /note="GSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVPQIKDKLN
FT DNHEVEDEIIWEEFTPEEGKGYREEVLTVKEIT -> DHLGGIHPRGRERLPRRGLDRE
FT GNYLRPRGCRNGMDISASATRGNCFLDDAVNLYIIFYVFI (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:8086503"
FT /id="VSP_001667"
FT VAR_SEQ 318..333
FT /note="DDGNLGSVYIYVLLIV -> LGYSGCSRQFHRSKTN (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:1832774,
FT ECO:0000303|PubMed:2148207"
FT /id="VSP_001668"
FT VAR_SEQ 334..400
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:1832774,
FT ECO:0000303|PubMed:2148207"
FT /id="VSP_001669"
FT VAR_SEQ 376..400
FT /note="IIWEEFTPEEGKGYREEVLTVKEIT -> MGPQRHHRCGWNLYPTPGPSPGS
FT GSSPRLGSESSL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:1715577"
FT /id="VSP_001670"
FT VARIANT 196
FT /note="G -> R (in SMDP4; dbSNP:rs137852353)"
FT /evidence="ECO:0000269|PubMed:18955570"
FT /id="VAR_058507"
FT STRAND 42..44
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 46..48
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 59..67
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 69..72
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 80..82
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 89..97
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 122..129
FT /evidence="ECO:0007829|PDB:4RS1"
FT TURN 130..132
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 133..139
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 149..155
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 166..181
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 188..197
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 199..201
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 206..211
FT /evidence="ECO:0007829|PDB:4RS1"
FT HELIX 212..215
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 222..227
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 233..238
FT /evidence="ECO:0007829|PDB:4RS1"
FT HELIX 248..250
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 251..259
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 260..262
FT /evidence="ECO:0007829|PDB:4NKQ"
FT STRAND 268..274
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 280..283
FT /evidence="ECO:0007829|PDB:4RS1"
FT STRAND 292..300
FT /evidence="ECO:0007829|PDB:4RS1"
FT TURN 301..303
FT /evidence="ECO:0007829|PDB:4RS1"
SQ 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
