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MGP000695

UniProt Annotations

Entry Information
Gene Namecolony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
Protein EntryCSF2R_HUMAN
UniProt IDP15509
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=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;
DiseasePulmonary 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.
DomainThe box 1 motif is required for JAK interaction and/or activation.
DomainThe WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding.
FunctionLow affinity receptor for granulocyte-macrophage colony- stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.
MiscellaneousThe gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
Sequence CautionSequence=AAA60962.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};
SimilarityBelongs to the type I cytokine receptor family. Type 5 subfamily. {ECO:0000305}.
SimilarityContains 1 fibronectin type-III domain. {ECO:0000255|PROSITE-ProRule:PRU00316}.
Subcellular LocationCell membrane; Single-pass type I membrane protein.
Subcellular LocationIsoform 3: Secreted {ECO:0000305}.
Subcellular LocationIsoform 4: Secreted {ECO:0000305}.
Subcellular LocationIsoform 6: Secreted {ECO:0000305}.
SubunitHeterodimer 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}.
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