| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... |
cpath:CPATH-LOCAL-134372,
cpath:CPATH-LOCAL-134373,
cpath:CPATH-LOCAL-134374,
cpath:CPATH-LOCAL-134375,
cpath:CPATH-LOCAL-134376,
cpath:CPATH-LOCAL-134377,
cpath:CPATH-LOCAL-134378,
cpath:CPATH-LOCAL-134379,
cpath:CPATH-LOCAL-134380,
cpath:CPATH-LOCAL-134381,
cpath:CPATH-LOCAL-134382,
cpath:CPATH-LOCAL-134383,
cpath:CPATH-LOCAL-134384,
cpath:CPATH-LOCAL-134385,
cpath:CPATH-LOCAL-134386,
cpath:CPATH-LOCAL-134387,
cpath:CPATH-LOCAL-134388,
cpath:CPATH-LOCAL-134389,
cpath:CPATH-LOCAL-139276
|
| http://www.biopax.org/relea... |
Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
|
| http://www.biopax.org/relea... |
CSF2R_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
CD116,
CDw116,
GM-CSF-R-alpha,
GMCSFR-alpha,
GMR-alpha
|
| http://www.biopax.org/relea... |
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. 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). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=6; 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; 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. GENE SYNONYMS: CSF2R CSF2RY. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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| skos:exactMatch | |
| skos:closeMatch |