CSF1R

Also known as C-FMS, CD115, CSF-1R, CSFR, FIM2, FMS, HDLS, M-CSF-R

protein-coding gene in the species Homo sapiens

Gene data

CSF1R

Name: colony stimulating factor 1 receptor
Type: protein-coding
Position: 150,053,291–150,113,372 (−)
Aliases: BANDDOS, C-FMS, CD115, CSF-1R, CSFR, FIM2, FMS, GPSC, HDLS, HDLS1
Ensembl: ENSG00000182578
RefSeq RNA: NM_001288705.3, NM_001349736.2, NM_001375320.1, NM_001375321.1, NM_005211.4
RefSeq protein: NP_001275634.1, NP_001336665.1, NP_001362249.1, NP_001362250.1, NP_005202.2

The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017].