ID:CSF2R_HUMAN DESCRIPTION: 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; 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. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform 3: Secreted (Probable). SUBCELLULAR LOCATION: Isoform 4: Secreted (Probable). SUBCELLULAR LOCATION: 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. DOMAIN: The box 1 motif is required for JAK interaction and/or activation. DISEASE: Defects in CSF2RA are the cause of pulmonary surfactant metabolism dysfunction type 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. MISCELLANEOUS: The gene encoding 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15509
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
