UniProt functional annotation for P32927



	UniProt functional annotation for P32927

UniProt code: P32927.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor.

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. Interacts with TMEM102; this interaction occurs preferentially in the absence of CSF2. Interacts with FCER1G; this interaction is direct. Interacts with LYN. {ECO:0000250|UniProtKB:P26955}.

Subcellular location: Membrane; Single-pass type I membrane protein.

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.

Ptm: May be phosphorylated by LYN. {ECO:0000250}.

Disease: Pulmonary surfactant metabolism dysfunction 5 (SMDP5) [MIM:614370]: 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:21075760}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the type I cytokine receptor family. Type 4 subfamily. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor.


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. Interacts with TMEM102; this interaction occurs preferentially in the absence of CSF2. Interacts with FCER1G; this interaction is direct. Interacts with LYN. {ECO:0000250\|UniProtKB:P26955}.
Subcellular location:		Membrane; Single-pass type I membrane protein.
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.
Ptm:		May be phosphorylated by LYN. {ECO:0000250}.
Disease:		Pulmonary surfactant metabolism dysfunction 5 (SMDP5) [MIM:614370]: 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:21075760}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the type I cytokine receptor family. Type 4 subfamily. {ECO:0000305}.