RBCC Red Blood Cell Collection

CSF1R_HUMAN

Source: BD_CD
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: CSF1R , FMS
Protein names and data: CSF1R_HUMAN , Macrophage colony-stimulating factor 1 receptor , CSF-1 receptor; CSF-1-R; CSF-1R; M-CSF-R; 2.7.10.1; Proto-oncogene c-Fms; CD115; Flags: Precursor Lenght: 972 a.a.
Mass: 107984 Da
fasta formatted sequence
Function: Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone and tooth development. Required for normal male and female fertility, and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding. Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5- trisphosphate, that then lead to the activation of protein kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1. Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP- 1. Receptor signaling is down-regulated by protein phosphatases, such as INPP5D/SHIP-1, that dephosphorylate the receptor and its downstream effectors, and by rapid internalization of the activated receptor.
Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
Disease: ( OMIM: 164770 221820 ) Note=Aberrant expression of CSF1 or CSF1R can promote cancer cell proliferation, invasion and formation of metastases. Overexpression of CSF1 or CSF1R is observed in a significant percentage of breast, ovarian, prostate, and endometrial cancers. Note=Aberrant expression of CSF1 or CSF1R may play a role in inflammatory diseases, such as rheumatoid arthritis, glomerulonephritis, atherosclerosis, and allograft rejection. Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]: An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Single-pass type I membrane protein.
Tissue specificity: Expressed in bone marrow and in differentiated blood mononuclear cells.

Genetic variants

32 - 32 V -> G (in dbSNP:rs56048668). VAR_042038 56048668
245 - 245 A -> S (in dbSNP:rs41338945). VAR_061290 41338945
279 - 279 V -> M (in dbSNP:rs3829986). VAR_049718 3829986
362 - 362 H -> R (in dbSNP:rs10079250). VAR_042039 10079250
413 - 413 G -> S (in dbSNP:rs34951517). VAR_042040 34951517
536 - 536 L -> V (in dbSNP:rs55942044). VAR_042041 55942044
585 - 619 GKTLGAGAFGKVVEATAFGLGKEDAVLKVAVKMLK -> A (in HDLS). VAR_067396
589 - 589 G -> E (in HDLS). VAR_067397
633 - 633 E -> K (in HDLS; impairs autophosphorylation upon stimulation with CSF1). VAR_067398
693 - 693 P -> H (in a lung squamous cell carcinoma sample; somatic mutation). VAR_042042
710 - 710 R -> H. VAR_067399
747 - 747 G -> R (in dbSNP:rs41355444). VAR_067400 41355444
766 - 766 M -> T (in HDLS; impairs autophosphorylation upon stimulation with CSF1). VAR_067401
770 - 770 A -> P (in HDLS). VAR_067402
774 - 814 Missing (in HDLS). VAR_067403
775 - 775 I -> N (in HDLS; impairs autophosphorylation upon stimulation with CSF1). VAR_067404
794 - 794 I -> T (in HDLS). VAR_067405
837 - 837 D -> Y (in HDLS). VAR_067406
849 - 849 F -> S (in HDLS). VAR_067407
849 - 849 Missing (in HDLS). VAR_067408
868 - 868 L -> P (in HDLS). VAR_067409
875 - 875 M -> T (in HDLS). VAR_067410
878 - 878 P -> T (in HDLS). VAR_067411
920 - 920 E -> D (in dbSNP:rs34030164). VAR_042043 34030164
921 - 921 R -> Q (in dbSNP:rs56059682). VAR_042044 56059682
969 - 969 Y -> C (in dbSNP:rs1801271). VAR_011953 1801271

Database cross-references

UniProt: P07333
Ensembl: ENST00000286301
Ensembl: ENST00000543093
MIM: 164770
MIM: 221820
neXtProt: NX_P07333
Antibodypedia: P07333 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2