Human Gene CSF1 (ENST00000329608.11_11) from GENCODE V45lift37
Description: Homo sapiens colony stimulating factor 1 (CSF1), transcript variant 1, mRNA. (from RefSeq NM_000757) RefSeq Summary (NM_000757): 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]. Gencode Transcript: ENST00000329608.11_11 Gencode Gene: ENSG00000184371.14_15 Transcript (Including UTRs) Position: hg19 chr1:110,453,471-110,473,614 Size: 20,144 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr1:110,453,646-110,467,811 Size: 14,166 Coding Exon Count: 8
ID:CSF1_HUMAN DESCRIPTION: RecName: Full=Macrophage colony-stimulating factor 1; Short=CSF-1; Short=M-CSF; Short=MCSF; AltName: Full=Lanimostim; AltName: Full=Proteoglycan macrophage colony-stimulating factor ; Short=PG-M-CSF ; Contains: RecName: Full=Processed macrophage colony-stimulating factor 1; Contains: RecName: Full=Macrophage colony-stimulating factor 1 43 kDa subunit ; Flags: Precursor; 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-inflammatory 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. SUBUNIT: Homodimer or heterodimer; disulfide-linked (PubMed:1531650, PubMed:3264877, PubMed:8422357). Likely to exist in multiple forms: homodimer consisting of 2 identical 150-200 kDa proteoglycan subunits, heterodimer consisting of a 150-200 kDa proteoglycan subunit and a truncated 43 kDa subunit, and homodimer consisting of 2 identical 43 kDa subunits (PubMed:8051056). Interacts with CSF1R (PubMed:20504948). INTERACTION: P09603; P09603: CSF1; NbExp=8; IntAct=EBI-2872294, EBI-2872294; P09603; P07333: CSF1R; NbExp=13; IntAct=EBI-2872294, EBI-2835440; P09603; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-2872294, EBI-3867333; P09603; Q13643: FHL3; NbExp=3; IntAct=EBI-2872294, EBI-741101; P09603; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-2872294, EBI-11959885; P09603; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-2872294, EBI-10171774; P09603; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-2872294, EBI-11522433; P09603; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-2872294, EBI-945833; P09603; O43765: SGTA; NbExp=6; IntAct=EBI-2872294, EBI-347996; P09603; P03228: BARF1; Xeno; NbExp=9; IntAct=EBI-2872294, EBI-16007073; P09603; P0CW72: BARF1; Xeno; NbExp=3; IntAct=EBI-2872294, EBI-2620133; P09603; P09581: Csf1r; Xeno; NbExp=2; IntAct=EBI-2872294, EBI-6305373; SUBCELLULAR LOCATION: Cell membrane ingle-pass type I membrane protein SUBCELLULAR LOCATION: [Processed macrophage colony-stimulating factor 1]: Secreted, extracellular space. PTM: N-glycosylated. PTM: [Isoform 1]: N-glycosylated. PTM: [Isoform 3]: N-glycosylated. PTM: O-glycosylated; contains chondroitin sulfate (PubMed:8051056, PubMed:1531650). O-glycosylated with core 1 or possibly core 8 glycans (PubMed:22171320, PubMed:23234360, PubMed:3264877). PTM: [Isoform 1]: O-glycosylated. DISEASE: 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. DISEASE: Note=Aberrant expression of CSF1 or CSF1R may play a role in inflammatory diseases, such as rheumatoid arthritis, glomerulonephritis, atherosclerosis, and allograft rejection.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P09603
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Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005125 cytokine activity GO:0005157 macrophage colony-stimulating factor receptor binding GO:0005515 protein binding GO:0008083 growth factor activity GO:0042802 identical protein binding GO:0042803 protein homodimerization activity
Biological Process: GO:0001954 positive regulation of cell-matrix adhesion GO:0002158 osteoclast proliferation GO:0002376 immune system process GO:0002931 response to ischemia GO:0003006 developmental process involved in reproduction GO:0006954 inflammatory response GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway GO:0008283 cell proliferation GO:0008284 positive regulation of cell proliferation GO:0010628 positive regulation of gene expression GO:0010743 regulation of macrophage derived foam cell differentiation GO:0010744 positive regulation of macrophage derived foam cell differentiation GO:0010759 positive regulation of macrophage chemotaxis GO:0019221 cytokine-mediated signaling pathway GO:0030097 hemopoiesis GO:0030154 cell differentiation GO:0030225 macrophage differentiation GO:0030278 regulation of ossification GO:0030316 osteoclast differentiation GO:0030335 positive regulation of cell migration GO:0032270 positive regulation of cellular protein metabolic process GO:0032946 positive regulation of mononuclear cell proliferation GO:0038145 macrophage colony-stimulating factor signaling pathway GO:0040018 positive regulation of multicellular organism growth GO:0042117 monocyte activation GO:0042488 positive regulation of odontogenesis of dentin-containing tooth GO:0043687 post-translational protein modification GO:0044267 cellular protein metabolic process GO:0045087 innate immune response GO:0045651 positive regulation of macrophage differentiation GO:0045657 positive regulation of monocyte differentiation GO:0045672 positive regulation of osteoclast differentiation GO:0045860 positive regulation of protein kinase activity GO:0046579 positive regulation of Ras protein signal transduction GO:0048873 homeostasis of number of cells within a tissue GO:0060444 branching involved in mammary gland duct morphogenesis GO:0060611 mammary gland fat development GO:0060763 mammary duct terminal end bud growth GO:0061518 microglial cell proliferation GO:1901215 negative regulation of neuron death GO:1902228 positive regulation of macrophage colony-stimulating factor signaling pathway GO:1904141 positive regulation of microglial cell migration
LF211919 - JP 2014500723-A/19422: Polycomb-Associated Non-Coding RNAs. LF206295 - JP 2014500723-A/13798: Polycomb-Associated Non-Coding RNAs. BC021117 - Homo sapiens colony stimulating factor 1 (macrophage), mRNA (cDNA clone MGC:31930 IMAGE:4586312), complete cds. E03219 - DNA encoding human M-CSF(macrophage colony stimulating factor). E03235 - cDNA encoding human M-CSF. AK291660 - Homo sapiens cDNA FLJ75722 complete cds, highly similar to Homo sapiens colony stimulating factor 1 (CSF1), transcript variant 1, mRNA. AB208952 - Homo sapiens mRNA for colony stimulating factor 1 isoform a precursor variant protein. M37435 - Human macrophage-specific colony-stimulating factor (CSF-1) mRNA, complete cds. M27087 - Homo sapiens macrophage colony-stimulating factor (M-CSF1) cDNA to mRNA, complete cds. E01949 - cDNA encoding human M-CSF. E01950 - cDNA encoding human M-CSF. E02182 - DNA encoding human M-CSF (colony Stimulating factor). E02183 - DNA encoding human M-CSF (colony Stimulating factor). E09614 - Human cDNA encoding M-CSF. E09615 - Human cDNA encoding M-CSF. JD395963 - Sequence 376987 from Patent EP1572962. U22386 - Human macrophage-colony stimulating factor gamma precursor mRNA, complete cds. AB527768 - Synthetic construct DNA, clone: pF1KB9973, Homo sapiens CSF1 gene for colony stimulating factor 1, without stop codon, in Flexi system. KJ896655 - Synthetic construct Homo sapiens clone ccsbBroadEn_06049 CSF1 gene, encodes complete protein. KR710585 - Synthetic construct Homo sapiens clone CCSBHm_00014149 CSF1 (CSF1) mRNA, encodes complete protein. M64592 - Human macrophage colony stimulating factor (M-CSF-1) mRNA, complete cds. M76453 - Homo sapiens colony stimulating factor 1 (CSF1) mRNA, partial cds. X05825 - Human mRNA for colony stimulating factor CSF-4. JF803735 - Homo sapiens macrophage colony-stimulating factor 1 mRNA, partial cds. E02184 - DNA encoding human M-CSF. E02185 - DNA encoding human M-CSF. E02187 - DNA encoding human M-CSF. E02188 - DNA encoding human M-CSF. E02186 - DNA encoding human M-CSF. E02189 - DNA encoding human M-CSF. AK300401 - Homo sapiens cDNA FLJ60891 complete cds, highly similar to Macrophage colony-stimulating factor 1 precursor. LF353041 - JP 2014500723-A/160544: Polycomb-Associated Non-Coding RNAs. AK311440 - Homo sapiens cDNA, FLJ18482. LF353039 - JP 2014500723-A/160542: Polycomb-Associated Non-Coding RNAs. LF353038 - JP 2014500723-A/160541: Polycomb-Associated Non-Coding RNAs. LF353037 - JP 2014500723-A/160540: Polycomb-Associated Non-Coding RNAs. LF353036 - JP 2014500723-A/160539: Polycomb-Associated Non-Coding RNAs. LF353035 - JP 2014500723-A/160538: Polycomb-Associated Non-Coding RNAs. LF353034 - JP 2014500723-A/160537: Polycomb-Associated Non-Coding RNAs. JD204702 - Sequence 185726 from Patent EP1572962. JD393180 - Sequence 374204 from Patent EP1572962. JD464305 - Sequence 445329 from Patent EP1572962. JD163723 - Sequence 144747 from Patent EP1572962. JD140743 - Sequence 121767 from Patent EP1572962. JD193404 - Sequence 174428 from Patent EP1572962. JD157738 - Sequence 138762 from Patent EP1572962. JD173073 - Sequence 154097 from Patent EP1572962. JD493861 - Sequence 474885 from Patent EP1572962. JD157450 - Sequence 138474 from Patent EP1572962. JD270994 - Sequence 252018 from Patent EP1572962. JD372740 - Sequence 353764 from Patent EP1572962. JD182431 - Sequence 163455 from Patent EP1572962. JD067909 - Sequence 48933 from Patent EP1572962. LF353030 - JP 2014500723-A/160533: Polycomb-Associated Non-Coding RNAs. JD382550 - Sequence 363574 from Patent EP1572962. JD373260 - Sequence 354284 from Patent EP1572962. JD208916 - Sequence 189940 from Patent EP1572962. JD361276 - Sequence 342300 from Patent EP1572962. JD148154 - Sequence 129178 from Patent EP1572962. LF353029 - JP 2014500723-A/160532: Polycomb-Associated Non-Coding RNAs. JD060919 - Sequence 41943 from Patent EP1572962. JD396541 - Sequence 377565 from Patent EP1572962. LF353028 - JP 2014500723-A/160531: Polycomb-Associated Non-Coding RNAs. LF353027 - JP 2014500723-A/160530: Polycomb-Associated Non-Coding RNAs. LF353026 - JP 2014500723-A/160529: Polycomb-Associated Non-Coding RNAs. LF353025 - JP 2014500723-A/160528: Polycomb-Associated Non-Coding RNAs. MA588618 - JP 2018138019-A/160544: Polycomb-Associated Non-Coding RNAs. MA588616 - JP 2018138019-A/160542: Polycomb-Associated Non-Coding RNAs. MA588615 - JP 2018138019-A/160541: Polycomb-Associated Non-Coding RNAs. MA588614 - JP 2018138019-A/160540: Polycomb-Associated Non-Coding RNAs. MA588613 - JP 2018138019-A/160539: Polycomb-Associated Non-Coding RNAs. MA588612 - JP 2018138019-A/160538: Polycomb-Associated Non-Coding RNAs. MA588611 - JP 2018138019-A/160537: Polycomb-Associated Non-Coding RNAs. MA588607 - JP 2018138019-A/160533: Polycomb-Associated Non-Coding RNAs. MA588606 - JP 2018138019-A/160532: Polycomb-Associated Non-Coding RNAs. MA588605 - JP 2018138019-A/160531: Polycomb-Associated Non-Coding RNAs. MA588604 - JP 2018138019-A/160530: Polycomb-Associated Non-Coding RNAs. MA588603 - JP 2018138019-A/160529: Polycomb-Associated Non-Coding RNAs. MA588602 - JP 2018138019-A/160528: Polycomb-Associated Non-Coding RNAs. MA447496 - JP 2018138019-A/19422: Polycomb-Associated Non-Coding RNAs. MA441872 - JP 2018138019-A/13798: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P09603 (Reactome details) participates in the following event(s):
R-HSA-9009488 IL34 binds CSF1 R-HSA-8952289 FAM20C phosphorylates FAM20C substrates R-HSA-449836 Other interleukin signaling R-HSA-6783783 Interleukin-10 signaling R-HSA-449147 Signaling by Interleukins R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-8957275 Post-translational protein phosphorylation R-HSA-1280215 Cytokine Signaling in Immune system R-HSA-392499 Metabolism of proteins R-HSA-597592 Post-translational protein modification R-HSA-168256 Immune System