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Aliases for CSF1 Gene

Aliases for CSF1 Gene

  • Colony Stimulating Factor 1 2 3 5
  • Colony Stimulating Factor 1 (Macrophage) 2 3
  • Macrophage Colony Stimulating Factor 1 2 3
  • Lanimostim 3 4
  • CSF-1 3 4
  • MCSF 3 4
  • Macrophage Colony-Stimulating Factor 1 3
  • M-CSF 4

External Ids for CSF1 Gene

Previous GeneCards Identifiers for CSF1 Gene

  • GC01U990031
  • GC01P109555
  • GC01P109752
  • GC01P110165
  • GC01P110254
  • GC01P110453
  • GC01P108322

Summaries for CSF1 Gene

Entrez Gene Summary for CSF1 Gene

  • The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

CIViC summary for CSF1 Gene

GeneCards Summary for CSF1 Gene

CSF1 (Colony Stimulating Factor 1) is a Protein Coding gene. Diseases associated with CSF1 include Pigmented Villonodular Synovitis and Tenosynovial Giant Cell Tumor. Among its related pathways are Akt Signaling and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and growth factor activity.

UniProtKB/Swiss-Prot for CSF1 Gene

  • Cytokine that 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, 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 development. Required for normal male and female fertility. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance.

Gene Wiki entry for CSF1 Gene

Additional gene information for CSF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSF1 Gene

Genomics for CSF1 Gene

GeneHancer (GH) Regulatory Elements for CSF1 Gene

Promoters and enhancers for CSF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J109910 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.4 +2.6 2555 5.6 HDGF PKNOX1 SMAD1 ARNT SIN3A ZNF2 YY1 POLR2B ZNF213 ZNF416 CSF1 ENSG00000258634 ENSG00000235005 RPL17P7 NRBF2P3 RPS27P6 STRIP1 ENSG00000273373 GSTM2 GC01P109923
GH01J109908 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 650.7 -1.1 -1095 0.3 SOX6 ZNF395 NR2C2 CSF1 CYB561D1 ENSG00000261055
GH01J109788 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 40.1 -118.1 -118124 6.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZBTB7B ZNF143 FOS REST SMARCB1 CSF1 AHCYL1 GSTM3 ENSG00000235005 RBM15 UBL4B SYPL2 GSTM2 AMPD2 GNAI3
GH01J109796 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 26.3 -113.1 -113140 0.7 ATF1 ZBTB21 TSC22D4 ZNF644 FOSL1 CTBP1 MTA3 STAT2 ATF7 GATAD2A CSF1 PSRC1 ENSG00000235005 GSTM2 PIR57260 GC01M109813
GH01J109863 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -45.4 -45368 2.4 ATF1 RB1 BMI1 TCF12 EGR1 ZBTB11 ZNF592 SP1 MEF2D KLF16 CSF1 ENSG00000235005 ENSG00000258634 ENSG00000273373 RBM15 GSTM3 GNAI3 GC01P109862 LINC01768
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSF1 gene promoter:
  • AP-1
  • STAT3

Genomic Locations for CSF1 Gene

Genomic Locations for CSF1 Gene
chr1:109,910,242-109,930,994
(GRCh38/hg38)
Size:
20,753 bases
Orientation:
Plus strand
chr1:110,452,864-110,473,614
(GRCh37/hg19)
Size:
20,751 bases
Orientation:
Plus strand

Genomic View for CSF1 Gene

Genes around CSF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSF1 Gene

Proteins for CSF1 Gene

  • Protein details for CSF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09603-CSF1_HUMAN
    Recommended name:
    Macrophage colony-stimulating factor 1
    Protein Accession:
    P09603
    Secondary Accessions:
    • A8K6J5
    • Q13130
    • Q14086
    • Q14806
    • Q5VVF3
    • Q5VVF4
    • Q9UQR8

    Protein attributes for CSF1 Gene

    Size:
    554 amino acids
    Molecular mass:
    60179 Da
    Quaternary structure:
    • Homodimer or heterodimer; disulfide-linked. Interacts with CSF1R.

    Three dimensional structures from OCA and Proteopedia for CSF1 Gene

    Alternative splice isoforms for CSF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSF1 Gene

Post-translational modifications for CSF1 Gene

  • N- and O-glycosylated. Glycosylation and proteolytic cleavage yield different soluble forms. One high molecular weight soluble form is a proteoglycan containing chondroitin sulfate. O-glycosylated with core 1 or possibly core 8 glycans. Isoform 1 is N- and O-glycosylated. Isoform 3 is only N-glycosylated.
  • Glycosylation at Ser473, posLast=461461, posLast=451451, posLast=428428, posLast=391391, Thr383, posLast=376376, posLast=365365, posLast=363363, Thr266, posLast=257257, Ser256, posLast=172172, and Asn154
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CSF1 Gene

Domains & Families for CSF1 Gene

Gene Families for CSF1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for CSF1 Gene

Suggested Antigen Peptide Sequences for CSF1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CSF1: view

No data available for UniProtKB/Swiss-Prot for CSF1 Gene

Function for CSF1 Gene

Molecular function for CSF1 Gene

UniProtKB/Swiss-Prot Function:
Cytokine that 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, 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 development. Required for normal male and female fertility. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance.
GENATLAS Biochemistry:
colony-stimulating factor 1,60kDa,(macrophage),expressed in fibroblast,endothelium,epithelium with two alternatively spliced isoforms,homodimerizing

LifeMap Function Summary for CSF1 Gene

CSF1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for CSF1 Gene

Gene Ontology (GO) - Molecular Function for CSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IDA 2460758
GO:0005157 macrophage colony-stimulating factor receptor binding TAS 2460758
GO:0005515 protein binding IPI 22153499
GO:0008083 growth factor activity IDA,NAS 1791839
GO:0042802 identical protein binding IPI 22153499
genes like me logo Genes that share ontologies with CSF1: view
genes like me logo Genes that share phenotypes with CSF1: view

Animal Models for CSF1 Gene

MGI Knock Outs for CSF1:
  • Csf1 Csf1<tm1.2Sabw>

Animal Model Products

Clone Products

  • Addgene plasmids for CSF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSF1 Gene

Localization for CSF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSF1 Gene

Cell membrane; Single-pass type I membrane protein.
Processed macrophage colony-stimulating factor 1: Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSF1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 4
cytoskeleton 2
nucleus 2
cytosol 2
lysosome 2
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for CSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 2460758
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane NAS 2460758
genes like me logo Genes that share ontologies with CSF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSF1 Gene

Pathways & Interactions for CSF1 Gene

genes like me logo Genes that share pathways with CSF1: view

SIGNOR curated interactions for CSF1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001954 positive regulation of cell-matrix adhesion ISS 18566389
GO:0002158 osteoclast proliferation IEA --
GO:0002376 immune system process IEA --
GO:0003006 developmental process involved in reproduction ISS 19017797
GO:0006954 inflammatory response IEA --
genes like me logo Genes that share ontologies with CSF1: view

Drugs & Compounds for CSF1 Gene

(82) Drugs for CSF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(60) Additional Compounds for CSF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CSF1: view

Transcripts for CSF1 Gene

Unigene Clusters for CSF1 Gene

Colony stimulating factor 1 (macrophage):
Representative Sequences:

Clone Products

  • Addgene plasmids for CSF1

Alternative Splicing Database (ASD) splice patterns (SP) for CSF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b
SP1: - -
SP2: - -
SP3: - - -
SP4: - - - - -
SP5: - -
SP6: -
SP7: - -
SP8:
SP9:
SP10: -
SP11:

Relevant External Links for CSF1 Gene

GeneLoc Exon Structure for
CSF1
ECgene alternative splicing isoforms for
CSF1

Expression for CSF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CSF1 Gene

This gene is overexpressed in Urine (53.7) and Cerebrospinal fluid (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CSF1 Gene



Protein tissue co-expression partners for CSF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CSF1 Gene:

CSF1

SOURCE GeneReport for Unigene cluster for CSF1 Gene:

Hs.173894

Evidence on tissue expression from TISSUES for CSF1 Gene

  • Blood(4.6)
  • Kidney(4.4)
  • Urine(4.2)
  • Nervous system(3.6)
  • Bone marrow(3.3)
  • Spleen(3)
  • Bone(2.9)
  • Lung(2.7)
  • Lymph node(2.7)
  • Liver(2.1)
  • Heart(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with CSF1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSF1 Gene

Orthologs for CSF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSF1 34 33
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CSF1 34 33
  • 84.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CSF1 34 33
  • 82.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Csf1 16 34 33
  • 80.58 (n)
rat
(Rattus norvegicus)
Mammalia Csf1 33
  • 78.85 (n)
oppossum
(Monodelphis domestica)
Mammalia CSF1 34
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSF1 34
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSF1 34
  • 25 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSF1 34
  • 37 (a)
OneToOne
Species where no ortholog for CSF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CSF1 Gene

ENSEMBL:
Gene Tree for CSF1 (if available)
TreeFam:
Gene Tree for CSF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSF1: view image

Paralogs for CSF1 Gene

Pseudogenes.org Pseudogenes for CSF1 Gene

genes like me logo Genes that share paralogs with CSF1: view

No data available for Paralogs for CSF1 Gene

Variants for CSF1 Gene

Sequence variations from dbSNP and Humsavar for CSF1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000070203 -- 109,919,463(+) A/G intron_variant
rs1000229088 -- 109,928,214(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000270428 -- 109,922,379(+) C/T intron_variant
rs1000448778 -- 109,909,050(+) A/G upstream_transcript_variant
rs1000530365 -- 109,928,526(+) T/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CSF1 Gene

Variant ID Type Subtype PubMed ID
esv2658285 CNV deletion 23128226
esv3567414 CNV deletion 23714750
esv3587160 CNV loss 21293372

Variation tolerance for CSF1 Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSF1 Gene

Human Gene Mutation Database (HGMD)
CSF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSF1 Gene

Disorders for CSF1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for CSF1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pigmented villonodular synovitis
  • testicular germ cell tumor
tenosynovial giant cell tumor
  • fibrous histiocytoma of tendon sheath
pulmonary alveolar proteinosis
giant cell tumor
  • giant cell neoplasm
acute non lymphoblastic leukemia
  • leukemia, myelocytic, acute
- elite association - COSMIC cancer census association via MalaCards
Search CSF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CSF1_HUMAN
  • 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.

Additional Disease Information for CSF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CSF1: view

No data available for Genatlas for CSF1 Gene

Publications for CSF1 Gene

  1. Three-dimensional structure of dimeric human recombinant macrophage colony-stimulating factor. (PMID: 1455231) Pandit J … Kim SH (Science (New York, N.Y.) 1992) 3 4 22 58
  2. Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. (PMID: 20436471) Albagha OM … Ralston SH (Nature genetics 2010) 3 44 58
  3. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PMID: 20452482) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 44 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty SE … Australian Cancer Study (Ovarian Cancer) (PLoS genetics 2010) 3 44 58

Products for CSF1 Gene

Sources for CSF1 Gene

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