CSF1 colony stimulating factor 1 (macrophage) [Homo sapiens] - Gene

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Summary

Official Symbol: CSF1provided by HGNC
Official Full Name: colony stimulating factor 1 (macrophage)provided by HGNC
Primary source: HGNC:2432
Locus tag: RP11-195M16.2
See related: Ensembl:ENSG00000184371; HPRD:00388; MIM:120420; Vega:OTTHUMG00000011646
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MCSF; CSF-1; MGC31930
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 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]

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Genomic context

Location :: 1p21-p13

Sequence :: Chromosome: 1; NC_000001.10 (110453233..110472355)

See CSF1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

findings demonstrate that NF-kappaB induces M-CSF expression on a promoter level via multiple functional NF-kappaB binding sites
Title: Macrophage colony stimulating factor regulation by nuclear factor kappa B: a relevant pathway in human immunodeficiency virus type 1 infected macrophages.
Macrophage Colony Stimulating Factor and Monocyte Chemoattractant Protein are elevated in sera of intrinsic asthmatics compared to normal controls.
Title: Macrophage colony stimulating factor and monocyte chemoattractant protein 2 are elevated in intrinsic asthmatics.
CSF-1 dependent Erk activation and proliferation are regulated differentially in progenitors and differentiated cells
Title: The role of atypical protein kinase C in CSF-1-dependent Erk activation and proliferation in myeloid progenitors and macrophages.
results suggest that budding RCC stimulates the proximal adjacent microenvironment in the kidney to release mediators of CSF-1, CSF-1R, and epidermal growth factor expression in RCCs
Title: Autocrine CSF-1 and CSF-1 receptor coexpression promotes renal cell carcinoma growth.
These findings suggest an important role for CSF1 and the resulting tumor-associated macrophage infiltration in the pathological neovascularization of leiomyosarcoma.
Title: CSF1 expression in nongynecological leiomyosarcoma is associated with increased tumor angiogenesis.
In this review, shedding of macrophage-CSF receptor c-Fms inhibits osteoclastogenesis.
Title: Feedback inhibition of osteoclastogenesis during inflammation by IL-10, M-CSF receptor shedding, and induction of IRF8.
Humanized CSF-1 mice will be a valuable experimental model to study human myeloid cell biology.
Title: Efficient differentiation and function of human macrophages in humanized CSF-1 mice.
CSF-1, in an autocrine fashion, has a direct effect on endometrial epithelial cell proliferation and attachment to peritoneal mesothelial cells, early steps in endometriosis lesion formation on the peritoneum.
Title: Colony-stimulating factor-1 exerts direct effects on the proliferation and invasiveness of endometrial epithelial cells.
M-CSF enhances dendritic cell DC-SIGN (CD209) expression on in vitro derived anti-inflammatory macrophages; M-CSF mediates induction of DC-SIGN by fibroblast- and tumor cell-conditioned media.
Title: Dendritic cell-specific ICAM-3-grabbing nonintegrin expression on M2-polarized and tumor-associated macrophages is macrophage-CSF dependent and enhanced by tumor-derived IL-6 and IL-10.
Macrophage colony-stimulating factor in CSF appears to be a biomarker for diagnosis of mild cognition disorder.
Title: Macrophage colony-stimulating factor (M-CSF) in plasma and CSF of patients with mild cognitive impairment and Alzheimer's disease.

Submit: New GeneRIF Correction See all (100)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

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Products	Interactant	Other Gene	Source	Pubs	Description
NC_000001.8	NP_003063.2	SMARCA4	BIND	PubMed	BRG1 interacts with CSF1 promoter.
P09603	P09603	CSF1	HPRD	PubMed
P09603	P07333	CSF1R	HPRD	PubMed
P09603	GRB2 associated binding protein 3	GAB3	HPRD	PubMed
P09603	P01889	HLA-B	HPRD	PubMed
P09603	O15524	SOCS1	HPRD	PubMed
P09603	P01375	TNF	HPRD	PubMed
BioGRID:107822	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107822	BioGRID:107823	CSF1R	BioGRID	PubMed	Reconstituted Complex
BioGRID:107822	BioGRID:111314	PIK3R2	BioGRID	PubMed	Biochemical Activity; Reconstituted Complex
BioGRID:107822	BioGRID:123928	SLA2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107822	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
cytokine activity	IDA Inferred from Direct Assay more info	PubMed
growth factor activity	IDA Inferred from Direct Assay more info	PubMed
growth factor activity	NAS Non-traceable Author Statement more info	PubMed
macrophage colony-stimulating factor receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
macrophage colony-stimulating factor receptor binding	TAS Traceable Author Statement more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
branching involved in mammary gland duct morphogenesis	IEA Inferred from Electronic Annotation more info
cell differentiation	NAS Non-traceable Author Statement more info	PubMed
cell proliferation	NAS Non-traceable Author Statement more info	PubMed
developmental process involved in reproduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
hemopoiesis	NAS Non-traceable Author Statement more info	PubMed
homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
inflammatory response	IEA Inferred from Electronic Annotation more info
innate immune response	IEA Inferred from Electronic Annotation more info
macrophage differentiation	TAS Traceable Author Statement more info	PubMed
mammary duct terminal end bud growth	IEA Inferred from Electronic Annotation more info
mammary gland fat development	IEA Inferred from Electronic Annotation more info
monocyte activation	NAS Non-traceable Author Statement more info	PubMed
odontogenesis	IEA Inferred from Electronic Annotation more info
osteoclast differentiation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
positive regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	TAS Traceable Author Statement more info	PubMed
positive regulation of cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of cellular protein metabolic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
positive regulation of macrophage derived foam cell differentiation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of macrophage differentiation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of monocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of mononuclear cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
positive regulation of odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
positive regulation of osteoclast differentiation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
regulation of macrophage derived foam cell differentiation	NAS Non-traceable Author Statement more info	PubMed
regulation of ossification	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	NAS Non-traceable Author Statement more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info
receptor complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

Preferred Names: macrophage colony-stimulating factor 1

Names: macrophage colony-stimulating factor 1; lanimostim

NP_000748.3

EC 2.7.10.1

NP_757349.1

EC 2.7.10.1

NP_757350.1

EC 2.7.10.1

NP_757351.1

EC 2.7.10.1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030008.1 RefSeqGene

Range

5001..25384

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000757.5 → NP_000748.3 macrophage colony-stimulating factor 1 isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AI758702, AL450468, BC021117, DA414355

Consensus CDS

CCDS816.1

UniProtKB/Swiss-Prot

P09603

Related

ENSP00000327513, OTTHUMP00000013362, ENST00000329608, OTTHUMT00000032208

Conserved Domains (1) summary

pfam05337
Location:272 – 554
Blast Score: 890

CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
NM_172210.2 → NP_757349.1 macrophage colony-stimulating factor 1 isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.

Source sequence(s)

BC021117, DA414355, M27087, U22386

Consensus CDS

CCDS817.1

UniProtKB/Swiss-Prot

P09603

Related

ENSP00000358816, OTTHUMP00000013364, ENST00000369801, OTTHUMT00000032210

Conserved Domains (1) summary

pfam05337
Location:1 – 254
Blast Score: 618

CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
NM_172211.3 → NP_757350.1 macrophage colony-stimulating factor 1 isoform c precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (c) compared to isoform a.

Source sequence(s)

AI758702, AL450468, BC021117, DA414355, M76453

Consensus CDS

CCDS30797.1

Related

ENSP00000407317, OTTHUMP00000013365, ENST00000420111, OTTHUMT00000032211

Conserved Domains (1) summary

pfam05337
Location:1 – 256
Blast Score: 803

CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
NM_172212.2 → NP_757351.1 macrophage colony-stimulating factor 1 isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 3' UTR compared to variant 1. Both variants 1 and 4 encode isoform a.

Source sequence(s)

AL450468, BC021117, DA414355, DB287787, M27087

Consensus CDS

CCDS816.1

UniProtKB/Swiss-Prot

P09603

Related

ENSP00000358817, OTTHUMP00000013363, ENST00000369802, OTTHUMT00000032209

Conserved Domains (1) summary

pfam05337
Location:272 – 554
Blast Score: 890

CSF-1; Macrophage colony stimulating factor-1 (CSF-1)

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

110453233..110472355

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

108322980..108341823

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL450468.6	CAH71146.1
		CAH71147.1
		CAH71148.1
genomic	CH471122.1	EAW56416.1
		EAW56417.1
		EAW56418.1
		EAW56419.1
		EAW56420.1
		EAW56421.1
genomic	CS166282.1	CAJ32234.1
genomic	CS166284.1	CAJ32235.1
genomic	CS166286.1	CAJ32236.1
genomic	HI519552.1	CBX54357.1
genomic	HI638410.1	CBX55878.1
genomic	HI638412.1	CBX55879.1
genomic	HI638414.1	CBX55880.1
genomic	JA312075.1	CCA65433.1
genomic	JA312077.1	CCA65434.1
genomic	JA312079.1	CCA65435.1
genomic	M11038.1	AAB59527.1
genomic	M11295.1	AAB59527.1
genomic	M11296.1	AAB59527.1
genomic	X06106.1	CAA29479.1
mRNA	AI758702.1	None
mRNA	AK291660.1	BAF84349.1
mRNA	AK300401.1	BAG62132.1
mRNA	AK311440.1	None
mRNA	BC021117.1	AAH21117.1
mRNA	DA414355.1	None
mRNA	DB287787.1	None
mRNA	JF803735.1	AEF12310.1
mRNA	M27087.1	AAA59573.1
mRNA	M37435.1	AAA52117.1
mRNA	M64592.1	AAA59572.1
mRNA	M76453.1	AAA52120.2
mRNA	U22386.1	AAA64849.1
mRNA	X05825.1	CAA29265.1
mRNA	AB208952.1	BAD92189.1