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Defective CSF2RA causes SMDP4

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5688890

PubChem

R-HSA-5688890

Description

Surfactant catabolism by alveolar macrophages plays a small but critical part in surfactant recycling and metabolism. Upon ligand binding, granulocyte-macrophage colony-stimulating factor receptor (GM-CSFR), a heterodimer of alpha (CSF2RA) and beta (CSF2RB) subunits, initiates a signalling process that not only induces proliferation, differentiation and functional activation of hematopoietic cells but can also determine surfactant uptake into alveolar macrophages and its degradation via clathrin-coated vesicles. Defects in human CSF2RA can cause pulmonary surfactant metabolism dysfunction 4 (SMDP4; MIM:300770, aka congenital pulmonary alveolar proteinosis, (PAP)), a rare lung disorder due to impaired surfactant homeostasis characterised by alveoli filling with floccular material. Cellular responses to the misfolded pro-SFTPC products include ER stress, the activation of reactive oxygen species and autophagy. Excessive lipoprotein accumulation in the alveoli results in a form of respiratory distress syndrome in premature infants (RDS; MIM:267450) (Whitsett et al. 2015).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying **all 6** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P07988	Pulmonary surfactant-associated protein B	SFTP3 SFTPB	view
P15509	Granulocyte-macrophage colony-stimulating factor receptor subunit alpha	CSF2R CSF2RA CSF2RY	view
P32927	Cytokine receptor common subunit beta	CSF2RB IL3RB IL5RB	view
P35247	Pulmonary surfactant-associated protein D	COLEC7 PSPD SFTP4 SFTPD	view
Q8IWL1	Pulmonary surfactant-associated protein A2	COLEC5 PSAP SFTP1 SFTPA SFTPA2 SFTPA2B	view
Q8IWL2	Pulmonary surfactant-associated protein A1	COLEC4 PSAP SFTP1 SFTPA SFTPA1 SFTPA1B	view

Displaying **all 3** entries
GlyCosmos Lectin	UniProt ID	Lectin Name	Pathway Viewer
GL_001020	Q8IWL2	Pulmonary surfactant-associated protein A1	view
GL_001021	Q8IWL1	Pulmonary surfactant-associated protein A2	view
GL_001022	P35247	Pulmonary surfactant-associated protein D	view

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