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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CSF1 Gene

protein-coding GIFtS: 63
GCID: GC01P110453

colony stimulating factor 1 (macrophage)

Explore 183 diseases affiliated with
CSF1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Colony Stimulating Factor 1 (Macrophage)¹ ²		MGC31930¹
MCSF¹ ² ³ ⁵		Lanimostim³
M-CSF¹ ³		Macrophage Colony-Stimulating Factor 1²
CSF-1² ³		Lanimostim³

External Ids:	HGNC: 2432¹	Entrez Gene: 1435²	Ensembl: ENSG00000184371⁷	OMIM: 120420⁵	UniProtKB: P09603³

Export aliases for CSF1 gene to outside databases

Previous GC identifers: GC01U990031 GC01P109555 GC01P109752 GC01P110165 GC01P110254 GC01P108322

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CSF1:

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)

UniProtKB/Swiss-Prot: CSF1_HUMAN, P09603

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

Gene Wiki entry for CSF1 (Macrophage colony-stimulating factor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CSF1 gene promoter:
AP-1 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CSF1 promoter sequence

Search SABiosciences Chromatin IP Primers for CSF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSF1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.3 Ensembl cytogenetic band: 1p13.3 HGNC cytogenetic band: 1p13.3

CSF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSF1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P110453: view genomic region (about GC identifiers)

Start:	110,452,864 bp from pter	End:	110,473,614 bp from pter
Size:	20,751 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CSF1_HUMAN, P09603 (See protein sequence)

Recommended Name: Macrophage colony-stimulating factor 1 precursor

Size: 554 amino acids; 60179 Da

Subunit: Homodimer or heterodimer; disulfide-linked. Interacts with CSF1R

Subcellular location: Cell membrane; Single-pass membrane protein

Subcellular location: Processed macrophage colony-stimulating factor 1: Secreted, extracellular space

5 PDB 3D structures from and Proteopedia for CSF1:

1HMC (3D)

3UEZ (3D)

3UF2 (3D)

4ADF (3D)

4FA8 (3D)

Secondary accessions: A8K6J5 Q13130 Q14086 Q14806 Q5VVF3 Q5VVF4 Q9UQR8

Alternative splicing: 3 isoforms: P09603-1 P09603-2 P09603-3

Explore the universe of human proteins at neXtProt for CSF1: NX_P09603

Post-translational modifications:

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-glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P09603

CSF1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_000748.3 NP_757349.1 NP_757350.1 NP_757351.1

ENSEMBL proteins:

ENSP00000434527 ENSP00000431547 ENSP00000349854 ENSP00000327513 ENSP00000433837

ENSP00000358817 ENSP00000407317 ENSP00000358816 ENSP00000342718

Human Recombinant Protein Products:

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	GenScript Purified and Recombinant Proteins for CSF1
	Novus Biologicals CSF1 Proteins Novus Biologicals CSF1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for CSF1
	Uscn Proteins for CSF1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IDA	2460758
GO:0005886	plasma membrane	IEA	--
GO:0016020	membrane	NAS	2460758
GO:0016021	integral to membrane	IEA	--
GO:0043235	receptor complex	ISS	19017797

CSF1 for ontologies About GeneDecksing

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Assay Products for CSF1:

	Browse Kits and Assays available from EMD Millipore
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	R&D Systems ELISAs for CSF1 (M-CSF)
	GenScript Custom Assay Services for CSF1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CSF1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CSF1 for domains About GeneDecksing

2 InterPro domains/families:

IPR008001 MCSF-1

IPR009079 4_helix_cytokine-like_core

Graphical View of Domain Structure for InterPro Entry P09603

ProtoNet protein and cluster: P09603

1 Blocks protein family: IPB008001 Macrophage colony stimulating factor-1

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CSF1_HUMAN, P09603

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 entry for CSF1:

colony-stimulating factor 1,60kDa,(macrophage),expressed in fibroblast,endothelium,epithelium with two alternatively

spliced isoforms,homodimerizing

Summary:

During embryonic development, CSF1 as signaling molecule

affects the following cells: Monocytes in Peripheral Blood, Osteoclasts in Bone Marrow

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

miRNA Products:		miRTarBase miRNAs that target CSF1: hsa-mir-130a (MIRT004575)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CSF1
		8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate CSF1 (see all 44):
		hsa-miR-4291 hsa-miR-1914* hsa-miR-513a-5p hsa-miR-128 hsa-miR-301a hsa-miR-28-5p hsa-miR-761 hsa-miR-130b

		SwitchGear 3'UTR luciferase reporter plasmid: CSF1 3' UTR sequence

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Gene Editing
Products:

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		GenScript: all cDNA clones in your preferred vector (see all 4): CSF1 (NM_000757)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CSF1
		Search LifeMap BioReagents cell lines for CSF1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

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	--	--
GO:0008083	growth factor activity	NAS	1791839
GO:0042803	protein homodimerization activity	IDA	3264878

CSF1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Csf1^tm1.2Sabw for CSF1
     15/23 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Csf1) (see all 23):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism
immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging

CSF1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

PEDF Induced Signaling

8/9 pathways (see all 9)
PEDF Induced Signaling	1.00	RAR-Gamma-RXR-Alpha Degradation	0.54
MIF Mediated Glucocorticoid Regulation	0.73	STAT3 Pathway	0.47
MIF Regulation of Innate Immune Cells	0.71	Endothelin-1 Signaling Pathway	0.44
IL-6 Pathway	0.61	Cytokine-cytokine receptor interaction	0.26

Rho Family GTPases

	Rho Family GTPases	1.00			Molecular Mechanisms of Cancer	0.51
	ERK Signaling	0.61

PAK Pathway

PAK Pathway

1.00

Antioxidant Action of Vitamin-C

0.56

Akt Signaling

Akt Signaling

1.00

p38 Signaling

0.60

MSP-RON Signaling

MSP-RON Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/18 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CSF1 (see all 18)

	MSP-RON Signaling
	Endothelin-1 Signaling Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	Rho Family GTPases

4 BioSystems Pathways for CSF1

	Cytokines and Inflammatory Response
	Signaling events mediated by PTP1B
	Integrins in angiogenesis
	Signaling events mediated by TCPTP

4 Kegg Pathways (Kegg details for CSF1):

	Cytokine-cytokine receptor interaction
	Osteoclast differentiation
	Hematopoietic cell lineage
	Rheumatoid arthritis

CSF1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CSF1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/56 Interacting proteins for CSF1 (P09603³ ENSP00000327513⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HLA-B	P01889³, ENSP00000399168⁴	I2D: score=1 STRING: ENSP00000399168
MAPK8IP2	Q13387³, ENSP00000330572⁴	I2D: score=1 STRING: ENSP00000330572
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
PIK3R1	P27986³, ENSP00000274335⁴	I2D: score=1 STRING: ENSP00000274335
RGS14	O43566³, ENSP00000386229⁴	I2D: score=1 STRING: ENSP00000386229

About this table

Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001503	ossification	IEA	--
GO:0001954	positive regulation of cell-matrix adhesion	ISS	18566389
GO:0003006	developmental process involved in reproduction	ISS	19017797
GO:0006954	inflammatory response	IEA	--
GO:0008283	cell proliferation	NAS	1791839

CSF1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CSF1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CSF1
10/142 Novoseek chemical compound relationships for CSF1 gene (see all 142) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rantes	62.2	52	17659436 (5), 14693736 (2), 9950608 (2), 7545059 (1) (see all 36)
tyrosine	61.6	213	11372744 (5), 1851549 (3), 2160591 (3), 15894167 (3) (see all 99)
tartrate	53.2	3	8976638 (1), 17203230 (1)
gm-csf	50.7	15	9272647 (2), 7738650 (2), 1729261 (1), 12494899 (1) (see all 9)
pixy321	50.2	5	7527667 (1), 8692093 (1), 7535842 (1)
dexamethasone	45.2	65	8359233 (4), 1370208 (2), 11880043 (2), 10673396 (2) (see all 39)
pge2	43.7	82	12678371 (5), 12010778 (4), 20001844 (4), 17342254 (4) (see all 31)
molgramostim	42.1	1	15280930 (1)
vegf	41.7	120	16443190 (10), 18724005 (7), 12890905 (6), 18852899 (6) (see all 43)
thymidine	41.7	24	2159762 (2), 8567816 (2), 8336080 (1), 10382942 (1) (see all 14)

Search CenterWatch for drugs/clinical trials and news about CSF1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CSF1 gene (4 alternative transcripts):

NM_000757.5 NM_172210.2 NM_172211.3 NM_172212.2

Unigene Cluster for CSF1:

Colony stimulating factor 1 (macrophage)

Hs.173894 [show with all ESTs]

Unigene Representative Sequence: NM_000757

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000527192 ENST00000525659 ENST00000357302 ENST00000329608(uc001dyw.4 uc021orj.1)

ENST00000488198 ENST00000369802(uc001dyu.2) ENST00000420111 ENST00000369801

ENST00000526001 ENST00000344188(uc001dyt.2 uc021ori.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): CSF1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CSF1
		8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate CSF1 (see all 44):
		hsa-miR-4291 hsa-miR-1914* hsa-miR-513a-5p hsa-miR-128 hsa-miR-301a hsa-miR-28-5p hsa-miR-761 hsa-miR-130b

		SwitchGear 3'UTR luciferase reporter plasmid: CSF1 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSF1

Additional cDNA sequence:

AB208952.1 AK291660.1 AK300401.1 AK311440.1 BC021117.1 JF803735.1 M64592.1 M76453.1

U22386.1 X05825.1

14 DOTS entries:

DT.440766 DT.86846409 DT.100772555 DT.100784442 DT.99929429 DT.100784435 DT.100651564 DT.100687792

DT.95272910 DT.100044148 DT.100784438 DT.100784439 DT.121352239 DT.121352242

24/159 AceView cDNA sequences (see all 159):

BI792860 CA308049 T29176 BM740834 AL596617 CD672012 CB122151 CD365995

CA306421 CD516732 BQ879077 BQ446818 NM_172210 NM_000757 BQ008155 CD370464

BM273288 CD368307 NM_172211 CA307991 CA309061 BI793126 BF724253 BU633480

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CSF1 (see all 11) About this scheme

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:			-		-

ECgene alternative splicing isoforms for CSF1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CSF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTTTTTTCA

About this image

CSF1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Early Embryo (Zygote)

Morula

8-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Early Embryo

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CSF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CSF1

SOURCE GeneReport for Unigene cluster: Hs.173894

SABiosciences Expression via Pathway-Focused PCR Arrays including CSF1 (see all 19):

Multiple Sclerosis in human mouse rat

T-cell & B-cell Activation in human mouse rat

Cell Motility in human mouse rat

Breast Cancer in human mouse rat

NFKB Signaling Pathway in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSF1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CSF1 gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Csf1^{1 , 5}	colony stimulating factor 1 (macrophage)^{1, 5}	80.58(n)¹ 70.6(a)¹		3 (46.83 cM)⁵ 12977¹ NM_001113530.1¹ NP_001107002.1¹ 107741048⁵
lizard (Anolis carolinensis)	Reptilia	CSF1⁶	--	39(a)	1 ↔ 1	4(106203282-106211361)

ENSEMBL Gene Tree for CSF1 (if available)
TreeFam Gene Tree for CSF1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs186696420^1,2		--	110451319(+)	`TGGGAC/GTAAAA`	4	--	us2k¹		0	--	--	--	--
rs7537956^1,2	C,F,A,H,	--	110451320(+)	`GGGACT/AAAAAT`	4	--	us2k¹ tfbs³		10		NA EA NS WA	582
rs148979989^1,2		--	110451485(+)	`CTTGGC/TCAGAG`	4	--	us2k¹		0	--	--	--	--
rs191525151^1,2		--	110451521(+)	`AGACAC/TGGGAA`	4	--	us2k¹		0	--	--	--	--
rs116350032^1,2	F,	--	110451580(+)	`ACCAAG/AGTCAA`	4	--	us2k¹		1		WA	118
rs143738106^1,2		--	110451590(+)	`AATCAC/TTTGTA`	4	--	us2k¹		0	--	--	--	--
rs75719165^1,2	F,	--	110451598(+)	`GTAAGT/CAGTGG`	4	--	us2k¹		1		WA	118
rs148115961^1,2		--	110451606(+)	`TGGAGA/TCAGGT`	4	--	us2k¹		0	--	--	--	--
rs333951^1,2	C,F,H,	--	110451690(-)	`GAGGAG/ACGTAA`	4	--	us2k¹		35		NS EA NA WA CSA	3210
rs140971374^1,2		--	110451857(+)	`ACTGTA/GGTGTC`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CSF1 (110452864 - 110473614 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CSF1: --
Human Gene Mutation Database (HGMD): CSF1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CSF1

DNA2.0 Custom Variant and Variant Library Synthesis for CSF1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CSF1 for disorders About GeneDecksing

OMIM gene information: 120420 OMIM disorders: --

UniProtKB/Swiss-Prot: CSF1_HUMAN, P09603

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

20/183 diseases for CSF1 (see all 183): About MalaCards

petit mal status langerhans-cell histiocytosis pulmonary alveolar proteinosis adult-onset still's disease

pigmented villonodular synovitis multicentric reticulohistiocytosis stachybotrys chartarum ocular cicatricial pemphigoid

cicatricial pemphigoid tenosynovial giant cell tumor chronic inflammatory demyelinating polyneuropathy severe combined immunodeficiency

demyelinating polyneuropathy giant cell tumor amyotrophic lateral sclerosis monocytic leukemia

acute monocytic leukemia villonodular synovitis pre-eclampsia abdominal aortic aneurysm

3 diseases from the University of Copenhagen DISEASES database for CSF1:

Osteopetrosis Pigmented villonodular synovitis Giant cell tumor

10/90 Novoseek disease relationships for CSF1 gene (see all 90) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
necrosis	76.4	416	1809376 (2), 8336080 (2), 2009973 (2), 18668547 (2) (see all 99)
osteopetrosis	67.5	23	1577090 (4), 16294279 (2), 8182336 (1), 11792569 (1) (see all 11)
tumors	65.1	686	16631152 (8), 15944252 (6), 8981366 (5), 8271294 (5) (see all 99)
bone destruction	56	2	16927019 (1), 16320327 (1)
leukemia	55.8	89	10897214 (5), 7685751 (2), 2293419 (1), 7686393 (1) (see all 61)
bone diseases	55.7	3	2146111 (1), 18045304 (1), 10962353 (1)
myeloid leukemia	55.6	13	8405241 (2), 1373742 (2), 1381238 (1), 7515098 (1) (see all 10)
osteolysis	55.4	7	17684931 (1), 18056041 (1), 20307736 (1), 10671521 (1) (see all 6)
pulmonary alveolar proteinosis	55.1	8	16565598 (2), 16275889 (1), 10499925 (1), 18955570 (1) (see all 6)
osteolytic	50.3	9	15101727 (1), 15550550 (1), 17200191 (1), 16927019 (1) (see all 6)

Human Genome Epidemiology (HuGE) Navigator: CSF1 (17 documents)

Export disorders for CSF1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CSF1 gene, integrated from 9 sources (see all 1952):
(articles sorted by number of sources associating them with CSF1)

Utopia: connect your pdf to the dynamic
world of online information

Three-dimensional structure of dimeric human recombinant macrophage colony-stimulating factor. (PubMed id 1455231)^{1, 2, 9} Pandit J.... Kim S.H. (1992)
Functional overlap but differential expression of CSF -1 and IL-34 in their CSF-1 receptor-mediated regulation of myeloid cells. (PubMed id 20504948)^{1, 2} Wei S....Stanley E.R. (2010)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The structure of recombinant human carboxy-terminal-truncated macrophage colony-stimulating factor derived from mammalian cells. (PubMed id 8262907)^{1, 2} Yamanishi K.... Adachi M. (1993)
Assignment of the inter- and intramolecular disulfide linkages in recombinant human macrophage colony stimulating factor using fast atom bombardment mass spectrometry. (PubMed id 8422357)^{1, 2} Glocker M.O.... Deinzer M.L. (1993)
Reassignment of the human macrophage colony stimulating factor gene to chromosome 1p13-21. (PubMed id 1540160)^{1, 3} Saltman D.L....Lovett M. (1992)
Identification of a high molecular weight macrophage colony- stimulating factor as a glycosaminoglycan-containing species. (PubMed id 1531650)^{1, 2} Suzu S.... Motoyoshi K. (1992)
Expression of colony-stimulating factor-1 (CSF-1) messenger RNA in human endometrial glands during the menstrual cycle: molecular cloning of a novel transcript that predicts a cell surface form of CSF-1. (PubMed id 1791839)^{1, 2} Pampfer S.... Pollard J.W. (1991)
Amino-terminal region of human macrophage colony-stimulating factor (M-CSF) is sufficient for its in vitro biological activity: molecular cloning and expression of carboxyl-terminal deletion mutants of human M-CSF. (PubMed id 2660794)^{1, 2} Takahashi M.... Hirai Y. (1989)
Human macrophage-colony stimulating factor: alternative RNA and protein processing from a single gene. (PubMed id 2460758)^{1, 2} Cerretti D.P.... Cosman D. (1988)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1435	HGNC: 2432	AceView: CSF1	Ensembl:ENSG00000184371	euGenes: HUgn1435
ECgene: CSF1	Kegg: 1435	H-InvDB: CSF1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CSF1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CSF1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CSF1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CSF1 gene:
Search GeneIP for patents involving CSF1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSF1
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CSF1 Gene

colony stimulating factor 1 (macrophage)

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Osteopetrosis
Measles
Leukemia Myelomonocytic Chronic
Bone Diseases
CONJUNCTIVAL SCARRING
Atherosclerosis
Breast Cancer
Aspergillosis
Asthma
stage I ovarian cancer
Cancer
Thrombocytopenia
bone loss
mammary tumor
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DEPRESSION BONE MARROW
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OVARIAN TUMOR BENIGN
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atherosclerotic plaque
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ACUTE LEUKEMIA
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LANGERHANS CELL HISTIOCYTOSIS
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Carcinoma Renal Cell
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NEUTROPENIA CYCLIC
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cytopenia
Ascites
Eosinophilia
ovarian cancer metastatic
OVARIAN CARCINOMA
Giant Cell Tumors
solid tumor
Histopathology
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BLADDER CARCINOMA
neoplastic disease
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leukemogenesis
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CSF1 Gene

colony stimulating factor 1 (macrophage)

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