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

Summary

Official Symbol: CSF1provided by HGNC
Official Full Name: colony stimulating factor 1provided by HGNC
Primary source: HGNC:HGNC:2432
See related: Ensembl:ENSG00000184371 MIM:120420; AllianceGenome:HGNC:2432
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; PG-M-CSF
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]
Expression: Ubiquitous expression in placenta (RPKM 19.9), spleen (RPKM 19.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (109910506..109930992)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (109920642..109941109)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (110453471..110473614)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adenine is an anti-inflammatory metabolite found to be more abundant in M-CSF over GM-CSF-differentiated human macrophages.
Title: Adenine is an anti-inflammatory metabolite found to be more abundant in M-CSF over GM-CSF-differentiated human macrophages.
M-CSF secreted by gastric cancer cells exacerbates the progression of gastric cancer by increasing the expression of SHP2 in tumor-associated macrophages.
Title: M-CSF secreted by gastric cancer cells exacerbates the progression of gastric cancer by increasing the expression of SHP2 in tumor-associated macrophages.
Multiple cytokine analyses identify CSF1 as a robust biomarker for predicting postoperative recurrence in chronic rhinosinusitis with nasal polyps.
Title: Multiple cytokine analyses identify CSF1 as a robust biomarker for predicting postoperative recurrence in chronic rhinosinusitis with nasal polyps.
p53 Gain-of-Function Mutation Induces Metastasis via BRD4-Dependent CSF-1 Expression.
Title: p53 Gain-of-Function Mutation Induces Metastasis via BRD4-Dependent CSF-1 Expression.
Inhibition of inflammation and infiltration of M2 macrophages in NSCLC through the ATF3/CSF1 axis: Role of miR-27a-3p.
Title: Inhibition of inflammation and infiltration of M2 macrophages in NSCLC through the ATF3/CSF1 axis: Role of miR-27a-3p.
ZIC2 induces pro-tumor macrophage polarization in nasopharyngeal carcinoma by activating the JUNB/MCSF axis.
Title: ZIC2 induces pro-tumor macrophage polarization in nasopharyngeal carcinoma by activating the JUNB/MCSF axis.
Increased expression of CSF1 in patients with eosinophilic asthma.
Title: Increased expression of CSF1 in patients with eosinophilic asthma.
Important oncogenic and immunogenic roles of SPP1 and CSF1 in hepatocellular carcinoma.
Title: Important oncogenic and immunogenic roles of SPP1 and CSF1 in hepatocellular carcinoma.
RNA-binding protein DHX9 promotes glioma growth and tumor-associated macrophages infiltration via TCF12.
Title: RNA-binding protein DHX9 promotes glioma growth and tumor-associated macrophages infiltration via TCF12.
Cathepsin C promotes colorectal cancer metastasis by regulating immune escape through upregulating CSF1.
Title: Cathepsin C promotes colorectal cancer metastasis by regulating immune escape through upregulating CSF1.

Submit: New GeneRIF Correction See all GeneRIFs (205)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CSF1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Gp120-induced M-CSF downregulates the TRAIL receptor TRAIL-R1/DR4 and upregulates the anti-apoptotic genes Bfl-1 and Mcl-1	PubMed
	env	HIV-1 gp120 envelope protein induces macrophage colony-stimulating factor (M-CSF) in HIV-1-infected macrophages	PubMed
Tat	tat	HIV-1 Tat and RANKL/M-CSF enhance osteoclast differentiation and activity by increasing osteoclast differentiation markers, such as cathepsin K and calcitonin receptor, and TRAP	PubMed
	tat	Co-treatment of osteoblastic cells with HIV-1 Tat and RANKL/M-CSF upregulates c-fos expression and AP-1 activity	PubMed
Vif	vif	HIV-1 Vif upregulates the expression of colony stimulating factor 1 (CSF1) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-75281 (e-PCR)
- UniSTS:8472

GDB:624800 (e-PCR)
- UniSTS:158359

GDB:624803 (e-PCR)
- UniSTS:158360

D1S3360 (e-PCR)
- UniSTS:463

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables macrophage colony-stimulating factor receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables macrophage colony-stimulating factor receptor binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in branching involved in mammary gland duct morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in developmental process involved in reproduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in macrophage colony-stimulating factor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in macrophage differentiation	TAS Traceable Author Statement more info	PubMed
involved_in macrophage homeostasis	IEA Inferred from Electronic Annotation more info
involved_in mammary duct terminal end bud growth	IEA Inferred from Electronic Annotation more info
involved_in mammary gland fat development	IEA Inferred from Electronic Annotation more info
involved_in microglial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in monocyte activation	NAS Non-traceable Author Statement more info	PubMed
involved_in monocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in monocyte homeostasis	IEA Inferred from Electronic Annotation more info
involved_in myeloid leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in neutrophil homeostasis	IEA Inferred from Electronic Annotation more info
involved_in osteoclast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in osteoclast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoclast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage colony-stimulating factor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage derived foam cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of macrophage differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of microglial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of monocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of mononuclear cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of osteoclast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of protein metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of macrophage derived foam cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of ossification	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of CSF1-CSF1R complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: macrophage colony-stimulating factor 1

Names: CSF1-hERV-LTR71B fusion protein; colony stimulating factor 1 (macrophage); lanimostim; macrophage colony stimulating factor 1; proteoglycan macrophage colony-stimulating factor

NP_000748.4

EC 2.7.10.1

NP_757349.2

EC 2.7.10.1

NP_757350.2

EC 2.7.10.1

NP_757351.2

EC 2.7.10.1

XP_016855858.1

EC 2.7.10.1

XP_047302708.1

EC 2.7.10.1

XP_054190514.1

EC 2.7.10.1

XP_054190515.1

EC 2.7.10.1

XP_054190516.1

EC 2.7.10.1

XP_054190517.1

EC 2.7.10.1

XP_054190518.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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_030008.2 RefSeqGene

Range

5345..25488

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000757.6 → NP_000748.4 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)

AL450468

Consensus CDS

CCDS816.1

UniProtKB/Swiss-Prot

A8K6J5, P09603, Q13130, Q14086, Q14806, Q5VVF3, Q5VVF4, Q9UQR8

UniProtKB/TrEMBL

B4DTX0

Related

ENSP00000327513.6, ENST00000329608.11

Conserved Domains (2) summary

PHA03307
Location:194 → 470

PHA03307; transcriptional regulator ICP4; Provisional

pfam05337
Location:41 → 180

CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
NM_172210.3 → NP_757349.2 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)

AL450468

Consensus CDS

CCDS817.1

Related

ENSP00000358816.1, ENST00000369801.1

Conserved Domains (2) summary

PHA03247
Location:202 → 351

PHA03247; large tegument protein UL36; Provisional

pfam05337
Location:41 → 180

CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
NM_172211.4 → NP_757350.2 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)

AL450468

Consensus CDS

CCDS30797.1

Related

ENSP00000407317.2, ENST00000420111.6

Conserved Domains (1) summary

pfam05337
Location:41 → 180

CSF-1; Macrophage colony stimulating factor-1 (CSF-1)
NM_172212.3 → NP_757351.2 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

Consensus CDS

CCDS816.1

UniProtKB/Swiss-Prot

A8K6J5, P09603, Q13130, Q14086, Q14806, Q5VVF3, Q5VVF4, Q9UQR8

UniProtKB/TrEMBL

B4DTX0

Related

ENSP00000358817.3, ENST00000369802.7

Conserved Domains (2) summary

PHA03307
Location:194 → 470

PHA03307; transcriptional regulator ICP4; Provisional

pfam05337
Location:41 → 180

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

109910506..109930992

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017000369.1 → XP_016855858.1 macrophage colony-stimulating factor 1 isoform X1

UniProtKB/TrEMBL

B4DTX0
XM_047446752.1 → XP_047302708.1 macrophage colony-stimulating factor 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

109920642..109941109

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334541.1 → XP_054190516.1 macrophage colony-stimulating factor 1 isoform X1
XM_054334539.1 → XP_054190514.1 macrophage colony-stimulating factor 1 isoform X3
XM_054334543.1 → XP_054190518.1 macrophage colony-stimulating factor 1 isoform X2
XM_054334540.1 → XP_054190515.1 macrophage colony-stimulating factor 1 isoform X3
XM_054334542.1 → XP_054190517.1 macrophage colony-stimulating factor 1 isoform X2