Gene Gene information from NCBI Gene database.
Entrez ID 1435
Gene name Colony stimulating factor 1
Gene symbol CSF1
Synonyms (NCBI Gene)
CSF-1MCSFPG-M-CSF
Chromosome 1
Chromosome location 1p13.3
Summary 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 proteolyti
miRNA miRNA information provided by mirtarbase database.
178
miRTarBase ID miRNA Experiments Reference
MIRT004575 hsa-miR-130a-3p Luciferase reporter assayWestern blot 18823650
MIRT004575 hsa-miR-130a-3p Luciferase reporter assayWestern blot 18823650
MIRT004575 hsa-miR-130a-3p Luciferase reporter assay 18823650
MIRT004575 hsa-miR-130a-3p Luciferase reporter assay 18823650
MIRT004575 hsa-miR-130a-3p Luciferase reporter assay 14697198
Transcription factors Transcription factors information provided by TRRUST V2 database.
11
Transcription factor Regulation Reference
ABL1 Activation 23418320
ABL1 Unknown 18619508
CEBPA Unknown 9632776
JUN Activation 7642615
NFKB1 Activation 18566389
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
84
GO ID Ontology Definition Evidence Reference
GO:0001780 Process Neutrophil homeostasis IEA
GO:0001954 Process Positive regulation of cell-matrix adhesion IEA
GO:0001954 Process Positive regulation of cell-matrix adhesion ISS 18566389
GO:0002158 Process Osteoclast proliferation IEA
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
120420 2432 ENSG00000184371
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09603
Protein name Macrophage colony-stimulating factor 1 (CSF-1) (M-CSF) (MCSF) (Lanimostim) (Proteoglycan macrophage colony-stimulating factor) (PG-M-CSF) [Cleaved into: Processed macrophage colony-stimulating factor 1; Macrophage colony-stimulating factor 1 43 kDa subuni
Protein 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 pro-inflammato
PDB 1HMC , 3UEZ , 3UF2 , 4ADF , 4FA8 , 4WRL , 4WRM , 5LXF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05337 CSF-1 41 180 Macrophage colony stimulating factor-1 (CSF-1) Domain
Sequence
MTAPGAAGRCPPTTWLGSLLLLVCLLASRSITEEVSEYCSHMIGSGHLQSLQRLIDSQME
TSCQITFEFVDQEQLKDPVCYLKKAFLLVQDIMEDTMRFRDNTPNAIAIVQLQELSLRLK
SCFTKDYEEHDKACVRTFYETPLQLLEKVKNVFNETKNLLDKDWNIFSKNCNNSFAECSS

QDVVTKPDCNCLYPKAIPSSDPASVSPHQPLAPSMAPVAGLTWEDSEGTEGSSLLPGEQP
LHTVDPGSAKQRPPRSTCQSFEPPETPVVKDSTIGGSPQPRPSVGAFNPGMEDILDSAMG
TNWVPEEASGEASEIPVPQGTELSPSRPGGGSMQTEPARPSNFLSASSPLPASAKGQQPA
DVTGTALPRVGPVRPTGQDWNHTPQKTDHPSALLRDPPEPGSPRISSLRPQGLSNPSTLS
AQPQLSRSHSSGSVLPLGELEGRRSTRDRRSPAEPEGGPASEGAARPLPRFNSVPLTDTG
HERQSEGSFSPQLQESVFHLLVPSVILVLLAVGGLLFYRWRRRSHQEPQRADSPLEQPEG
SPLTQDDRQVELPV
Sequence length 554
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
PI3K-Akt signaling pathway
Osteoclast differentiation
Hematopoietic cell lineage
TNF signaling pathway
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Rheumatoid arthritis
  Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Other interleukin signaling
Interleukin-10 signaling
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTERSTITIAL CYSTITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 31924656 Associate
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 30580386
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 2465043
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 2154646
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 1695482, 23870818, 7965406, 9815987
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 31731509
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 16844084, 28753101
★☆☆☆☆
Found in Text Mining only
Alveolitis Extrinsic Allergic Extrinsic allergic alveolitis Pubtator 37833889 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21942811, 32255787 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 18389210 Associate
★☆☆☆☆
Found in Text Mining only