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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]

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 Immune System and Integrins in angiogenesis. 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

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

Genomics for CSF1 Gene

Regulatory Elements for CSF1 Gene

Enhancers for CSF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F109785 0.8 FANTOM5 Ensembl ENCODE 40.1 -119.8 -119824 10.0 HDGF PKNOX1 ARNT CREB3L1 ARID4B FEZF1 YY1 ZNF766 CBX5 ZNF143 CSF1 STRIP1 AMPD2 AHCYL1 GSTM3 ENSG00000228703 ENSG00000235005 MIR197 AMIGO1 UBL4B
GH01F109796 1.6 FANTOM5 Ensembl ENCODE 26.3 -112.7 -112742 1.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CSF1 RPL17P7 ENSG00000258634 RPS27P6 GSTM2 ENSG00000235005 PIR57260 GC01M109813
GH01F109910 1.2 FANTOM5 Ensembl ENCODE 19.4 +2.6 2555 5.6 HDGF PKNOX1 SIN3A ZNF2 ZNF416 ZNF548 SP3 REST MEF2D SMARCA4 ENSG00000235005 CSF1 NRBF2P3 ENSG00000258634 RPL17P7 GSTM2 GC01P109923
GH01F109863 1.1 FANTOM5 Ensembl ENCODE 17.1 -45.4 -45368 2.4 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC RPL17P7 RPS27P6 GSTM2 GSTM3 CSF1 ENSG00000235005 ENSG00000258634 GSTM5 GNAI3 GC01P109862
GH01F109953 1.1 Ensembl ENCODE 16.5 +43.8 43800 2.1 CTCF TBL1XR1 ZNF175 RAD21 ZNF101 ZBTB48 FOXK2 SCRT2 ZNF143 SMC3 CSF1 GSTM3 EPS8L3 ENSG00000235005 GC01P109974 GC01P109923
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CSF1 on UCSC Golden Path with GeneCards custom track

Promoters for CSF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000166133 1658 3001 HDGF SIN3A FEZF1 GLI4 ZNF48 ZNF2 ZNF121 GLIS2 ZNF416 KLF7

Genomic Location for CSF1 Gene

Chromosome:
1
Start:
109,910,242 bp from pter
End:
109,930,994 bp from pter
Size:
20,753 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 Asn 154, Asn 172, Ser 256, Thr 257, Thr 266, Thr 363, Thr 365, Thr 376, Thr 383, Ser 391, Ser 428, Ser 451, Ser 461, and Ser 473
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CSF1

No data available for DME Specific Peptides for CSF1 Gene

Domains & Families for CSF1 Gene

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 Gene Families and UniProtKB/Swiss-Prot for CSF1 Gene

Function for CSF1 Gene

Molecular function for CSF1 Gene

GENATLAS Biochemistry:
colony-stimulating factor 1,60kDa,(macrophage),expressed in fibroblast,endothelium,epithelium with two alternatively spliced isoforms,homodimerizing
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.

LifeMap Function Summary for CSF1 Gene

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

Gene Ontology (GO) - Molecular Function for CSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IEA,IDA 2460758
GO:0005157 macrophage colony-stimulating factor receptor binding ISS,TAS 2460758
GO:0005515 protein binding IPI 25416956
GO:0008083 growth factor activity NAS 1791839
GO:0042803 protein homodimerization activity IDA 3264878
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:

Animal Model Products

Flow Cytometry Products

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
Jensen Localization Image for CSF1 Gene COMPARTMENTS Subcellular localization image for CSF1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 2
cytosol 2
lysosome 2
nucleus 2
vacuole 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IDA 2460758
GO:0005886 plasma membrane IEA --
GO:0016020 membrane NAS 2460758
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CSF1: view

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

(80) Drugs for CSF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(62) 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:

Flow Cytometry Products

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 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, PaxDb, 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
genes like me logo Genes that share expression patterns with CSF1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia CSF1 34 35
  • 84.39 (n)
dog
(Canis familiaris)
Mammalia CSF1 34 35
  • 82.07 (n)
mouse
(Mus musculus)
Mammalia Csf1 34 16 35
  • 80.58 (n)
rat
(Rattus norvegicus)
Mammalia Csf1 34
  • 78.85 (n)
oppossum
(Monodelphis domestica)
Mammalia CSF1 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSF1 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSF1 35
  • 25 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSF1 35
  • 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)

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 Sequence Context AA Info Type
rs1058885 -- 109,923,844(+) ATCAC(C/T)GCGCC intron-variant, reference, missense
rs1064527 -- 109,917,338(+) TACAA(G/T)ACATA reference, missense
rs11102029 -- 109,917,931(+) ATATG(C/T)AAGTA intron-variant
rs11102030 -- 109,918,102(+) ACAAG(A/G)AAGGC intron-variant
rs111265324 -- 109,910,258(+) GAAGC(C/T)GGCCG upstream-variant-2KB

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)

Relevant External Links for CSF1 Gene

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

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

Disorders for CSF1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pigmented villonodular synovitis
  • diffuse giant cell tumor of tenosynovium
tenosynovial giant cell tumor
  • fibrous histiocytoma of tendon sheath
pulmonary alveolar proteinosis
giant cell tumor
  • giant cell neoplasm
rheumatoid arthritis
  • rheumatoid arthritis, progression of
- 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.

Relevant External Links for CSF1

Genetic Association Database (GAD)
CSF1
Human Genome Epidemiology (HuGE) Navigator
CSF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSF1
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 S.H. (Science 1992) 3 4 22 64
  2. 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. (Am. J. Obstet. Gynecol. 2010) 3 46 64
  3. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PMID: 20485444) Wang Y. … Huang W. (J. Hum. Genet. 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  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 S.E. … . (PLoS Genet. 2010) 3 46 64

Products for CSF1 Gene

Sources for CSF1 Gene

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