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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]
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 Ras signaling pathway and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and growth factor activity.
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 | 2460758 |
GO:0042802 | identical protein binding | IPI | 22153499 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA,IDA | 2460758 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | NAS | 2460758 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PEDF Induced Signaling |
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
|
IL-6 Pathway
.61
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
|
2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
|
Molecular Mechanisms of Cancer
.51
|
3 | Ras signaling pathway | ||
4 | Akt Signaling |
Akt Signaling
.60
|
p38 Signaling
.60
|
5 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
|
PAK Pathway
.56
|
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:0002931 | response to ischemia | IDA | 8922060 |
GO:0003006 | developmental process involved in reproduction | ISS | 19017797 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CSF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CSF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CSF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Csf1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Csf1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CSF1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CSF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CSF1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CSF1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720256 | Benign: not provided | 109,924,154(+) | C/T | SYNONYMOUS_VARIANT | |
736032 | Benign: not provided | 109,923,833(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
745764 | Likely Benign: not provided | 109,924,798(+) | C/T | MISSENSE_VARIANT | |
775573 | Benign: not provided | 109,923,497(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
rs1058885 | - | p.Leu408Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2658285 | CNV | deletion | 23128226 |
esv3567414 | CNV | deletion | 23714750 |
esv3587160 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pigmented villonodular synovitis |
|
|
tenosynovial giant cell tumor |
|
|
benign giant cell tumor |
|
|
pulmonary alveolar proteinosis |
|
|
rheumatoid arthritis |
|