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CSF1 (colony stimulating factor 1)

Identity

Alias_namescolony stimulating factor 1 (macrophage)
Alias_symbol (synonym)M-CSF
MCSF
MGC31930
Other aliasCSF-1
HGNC (Hugo) CSF1
LocusID (NCBI) 1435
Atlas_Id 40160
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 110453233 and ends at 110473616 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP5EP2 (13q12.2) / CSF1 (1p13.3)COL6A3 (2q37.3) / CSF1 (1p13.3)CSF1 (1p13.3) / COL6A3 (2q37.3)
CSF1 (1p13.3) / S100A10 (1q21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;5)(p21;q32) RBM6/CSF1R


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Soft tissue tumors: an overview


External links

Nomenclature
HGNC (Hugo)CSF1   2432
Cards
Entrez_Gene (NCBI)CSF1  1435  colony stimulating factor 1
AliasesCSF-1; MCSF
GeneCards (Weizmann)CSF1
Ensembl hg19 (Hinxton)ENSG00000184371 [Gene_View]  chr1:110453233-110473616 [Contig_View]  CSF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000184371 [Gene_View]  chr1:110453233-110473616 [Contig_View]  CSF1 [Vega]
ICGC DataPortalENSG00000184371
TCGA cBioPortalCSF1
AceView (NCBI)CSF1
Genatlas (Paris)CSF1
WikiGenes1435
SOURCE (Princeton)CSF1
Genetics Home Reference (NIH)CSF1
Genomic and cartography
GoldenPath hg19 (UCSC)CSF1  -     chr1:110453233-110473616 +  1p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CSF1  -     1p13.3   [Description]    (hg38-Dec_2013)
EnsemblCSF1 - 1p13.3 [CytoView hg19]  CSF1 - 1p13.3 [CytoView hg38]
Mapping of homologs : NCBICSF1 [Mapview hg19]  CSF1 [Mapview hg38]
OMIM120420   
Gene and transcription
Genbank (Entrez)AB208952 AI758702 AK291660 AK300401 AK311440
RefSeq transcript (Entrez)NM_000757 NM_172210 NM_172211 NM_172212
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_030008 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)CSF1
Cluster EST : UnigeneHs.173894 [ NCBI ]
CGAP (NCI)Hs.173894
Alternative Splicing GalleryENSG00000184371
Gene ExpressionCSF1 [ NCBI-GEO ]   CSF1 [ EBI - ARRAY_EXPRESS ]   CSF1 [ SEEK ]   CSF1 [ MEM ]
Gene Expression Viewer (FireBrowse)CSF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1435
GTEX Portal (Tissue expression)CSF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09603   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP09603  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09603
Splice isoforms : SwissVarP09603
PhosPhoSitePlusP09603
Domains : Interpro (EBI)4_helix_cytokine-like_core    MCSF-1   
Domain families : Pfam (Sanger)CSF-1 (PF05337)   
Domain families : Pfam (NCBI)pfam05337   
Conserved Domain (NCBI)CSF1
DMDM Disease mutations1435
Blocks (Seattle)CSF1
PDB (SRS)1HMC    3UEZ    3UF2    4ADF    4FA8    4WRL    4WRM   
PDB (PDBSum)1HMC    3UEZ    3UF2    4ADF    4FA8    4WRL    4WRM   
PDB (IMB)1HMC    3UEZ    3UF2    4ADF    4FA8    4WRL    4WRM   
PDB (RSDB)1HMC    3UEZ    3UF2    4ADF    4FA8    4WRL    4WRM   
Structural Biology KnowledgeBase1HMC    3UEZ    3UF2    4ADF    4FA8    4WRL    4WRM   
SCOP (Structural Classification of Proteins)1HMC    3UEZ    3UF2    4ADF    4FA8    4WRL    4WRM   
CATH (Classification of proteins structures)1HMC    3UEZ    3UF2    4ADF    4FA8    4WRL    4WRM   
SuperfamilyP09603
Human Protein AtlasENSG00000184371
Peptide AtlasP09603
HPRD00388
IPIIPI00015881   IPI00218201   IPI00218202   IPI00982601   IPI00983848   IPI00556665   IPI00984388   
Protein Interaction databases
DIP (DOE-UCLA)P09603
IntAct (EBI)P09603
FunCoupENSG00000184371
BioGRIDCSF1
STRING (EMBL)CSF1
ZODIACCSF1
Ontologies - Pathways
QuickGOP09603
Ontology : AmiGOossification  positive regulation of cell-matrix adhesion  osteoclast proliferation  developmental process involved in reproduction  cytokine activity  macrophage colony-stimulating factor receptor binding  macrophage colony-stimulating factor receptor binding  protein binding  extracellular space  plasma membrane  inflammatory response  transmembrane receptor protein tyrosine kinase signaling pathway  growth factor activity  growth factor activity  cell proliferation  positive regulation of cell proliferation  positive regulation of cell proliferation  positive regulation of gene expression  regulation of macrophage derived foam cell differentiation  positive regulation of macrophage derived foam cell differentiation  positive regulation of macrophage chemotaxis  membrane  integral component of membrane  hemopoiesis  cell differentiation  macrophage differentiation  regulation of ossification  osteoclast differentiation  positive regulation of cell migration  positive regulation of cellular protein metabolic process  positive regulation of mononuclear cell proliferation  macrophage colony-stimulating factor signaling pathway  positive regulation of multicellular organism growth  monocyte activation  odontogenesis  positive regulation of odontogenesis of dentin-containing tooth  protein homodimerization activity  innate immune response  positive regulation of macrophage differentiation  positive regulation of monocyte differentiation  positive regulation of osteoclast differentiation  positive regulation of protein kinase activity  positive regulation of Ras protein signal transduction  perinuclear region of cytoplasm  homeostasis of number of cells within a tissue  branching involved in mammary gland duct morphogenesis  mammary gland fat development  mammary duct terminal end bud growth  extracellular exosome  positive regulation of macrophage colony-stimulating factor signaling pathway  positive regulation of microglial cell migration  CSF1-CSF1R complex  
Ontology : EGO-EBIossification  positive regulation of cell-matrix adhesion  osteoclast proliferation  developmental process involved in reproduction  cytokine activity  macrophage colony-stimulating factor receptor binding  macrophage colony-stimulating factor receptor binding  protein binding  extracellular space  plasma membrane  inflammatory response  transmembrane receptor protein tyrosine kinase signaling pathway  growth factor activity  growth factor activity  cell proliferation  positive regulation of cell proliferation  positive regulation of cell proliferation  positive regulation of gene expression  regulation of macrophage derived foam cell differentiation  positive regulation of macrophage derived foam cell differentiation  positive regulation of macrophage chemotaxis  membrane  integral component of membrane  hemopoiesis  cell differentiation  macrophage differentiation  regulation of ossification  osteoclast differentiation  positive regulation of cell migration  positive regulation of cellular protein metabolic process  positive regulation of mononuclear cell proliferation  macrophage colony-stimulating factor signaling pathway  positive regulation of multicellular organism growth  monocyte activation  odontogenesis  positive regulation of odontogenesis of dentin-containing tooth  protein homodimerization activity  innate immune response  positive regulation of macrophage differentiation  positive regulation of monocyte differentiation  positive regulation of osteoclast differentiation  positive regulation of protein kinase activity  positive regulation of Ras protein signal transduction  perinuclear region of cytoplasm  homeostasis of number of cells within a tissue  branching involved in mammary gland duct morphogenesis  mammary gland fat development  mammary duct terminal end bud growth  extracellular exosome  positive regulation of macrophage colony-stimulating factor signaling pathway  positive regulation of microglial cell migration  CSF1-CSF1R complex  
Pathways : BIOCARTARegulation of hematopoiesis by cytokines [Genes]    Low-density lipoprotein (LDL) pathway during atherogenesis [Genes]    Cytokines and Inflammatory Response [Genes]    METS affect on Macrophage Differentiation [Genes]    Msp/Ron Receptor Signaling Pathway [Genes]   
Pathways : KEGGRas signaling pathway    Rap1 signaling pathway    Cytokine-cytokine receptor interaction    PI3K-Akt signaling pathway    Osteoclast differentiation    Hematopoietic cell lineage    TNF signaling pathway    Rheumatoid arthritis   
NDEx NetworkCSF1
Atlas of Cancer Signalling NetworkCSF1
Wikipedia pathwaysCSF1
Orthology - Evolution
OrthoDB1435
GeneTree (enSembl)ENSG00000184371
Phylogenetic Trees/Animal Genes : TreeFamCSF1
HOVERGENP09603
HOGENOMP09603
Homologs : HomoloGeneCSF1
Homology/Alignments : Family Browser (UCSC)CSF1
Gene fusions - Rearrangements
Fusion : MitelmanCOL6A3/CSF1 [2q37.3/1p13.3]  [t(1;2)(p13;q37)]  
Fusion : MitelmanCSF1/S100A10 [1p13.3/1q21.3]  [t(1;1)(p13;q21)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSF1
dbVarCSF1
ClinVarCSF1
1000_GenomesCSF1 
Exome Variant ServerCSF1
ExAC (Exome Aggregation Consortium)CSF1 (select the gene name)
Genetic variants : HAPMAP1435
Genomic Variants (DGV)CSF1 [DGVbeta]
DECIPHER (Syndromes)1:110453233-110473616  ENSG00000184371
CONAN: Copy Number AnalysisCSF1 
Mutations
ICGC Data PortalCSF1 
TCGA Data PortalCSF1 
Broad Tumor PortalCSF1
OASIS PortalCSF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CSF1
DgiDB (Drug Gene Interaction Database)CSF1
DoCM (Curated mutations)CSF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSF1 (select a term)
intoGenCSF1
Cancer3DCSF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120420   
Orphanet
MedgenCSF1
Genetic Testing Registry CSF1
NextProtP09603 [Medical]
TSGene1435
GENETestsCSF1
Huge Navigator CSF1 [HugePedia]
snp3D : Map Gene to Disease1435
BioCentury BCIQCSF1
ClinGenCSF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1435
Chemical/Pharm GKB GenePA26935
Clinical trialCSF1
Miscellaneous
canSAR (ICR)CSF1 (select the gene name)
Probes
Litterature
PubMed197 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSF1
EVEXCSF1
GoPubMedCSF1
iHOPCSF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:01:51 CET 2017

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