CSF3 colony stimulating factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSF3provided by HGNC
Official Full Name: colony stimulating factor 3provided by HGNC
Primary source: HGNC:HGNC:2438
See related: Ensembl:ENSG00000108342 MIM:138970; AllianceGenome:HGNC:2438
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: GCSF; CSF3OS; C17orf33
Summary: This gene encodes a member of the IL-6 superfamily of cytokines. The encoded cytokine controls the production, differentiation, and function of granulocytes. Granulocytes are a type of white blood cell that are part of the innate immune response. A modified form of this protein is commonly administered to manage chemotherapy-induced neutropenia. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
Expression: Biased expression in appendix (RPKM 6.9), urinary bladder (RPKM 3.3) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (40015440..40017813)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40879315..40881689)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (38171693..38174066)

Chromosome 17 - NC_000017.11 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?

G-CSF reshapes the cytosolic PCNA scaffold and modulates glycolysis in neutrophils.
Title: G-CSF reshapes the cytosolic PCNA scaffold and modulates glycolysis in neutrophils.
Serum cytokines MCP-1 and GCS-F as potential biomarkers in pediatric inflammatory bowel disease.
Title: Serum cytokines MCP-1 and GCS-F as potential biomarkers in pediatric inflammatory bowel disease.
Tumor-derived GCSF Alters Tumor and Systemic Immune System Cell Subset Composition and Signaling.
Title: Tumor-derived GCSF Alters Tumor and Systemic Immune System Cell Subset Composition and Signaling.
p140Cap inhibits beta-Catenin in the breast cancer stem cell compartment instructing a protective anti-tumor immune response.
Title: p140Cap inhibits β-Catenin in the breast cancer stem cell compartment instructing a protective anti-tumor immune response.
Elevated G-CSF, IL8, and HGF in patients with definite Meniere's disease may indicate the role of NET formation in triggering autoimmunity and autoinflammation.
Title: Elevated G-CSF, IL8, and HGF in patients with definite Meniere's disease may indicate the role of NET formation in triggering autoimmunity and autoinflammation.
G-CSF promotes the viability and angiogenesis of injured liver via direct effects on the liver cells.
Title: G-CSF promotes the viability and angiogenesis of injured liver via direct effects on the liver cells.
G-CSF as a potential early biomarker for diagnosis of bloodstream infection.
Title: G-CSF as a potential early biomarker for diagnosis of bloodstream infection.
Identification of differentially expressed genes and signaling pathways in human conjunctiva and reproductive tract infected with Chlamydia trachomatis.
Title: Identification of differentially expressed genes and signaling pathways in human conjunctiva and reproductive tract infected with Chlamydia trachomatis.
Plasma concentrations of granulocyte colony-stimulating factor (G-CSF) in patients with substance use disorders and comorbid major depressive disorder.
Title: Plasma concentrations of granulocyte colony-stimulating factor (G-CSF) in patients with substance use disorders and comorbid major depressive disorder.
M2 macrophage-derived G-CSF promotes trophoblasts EMT, invasion and migration via activating PI3K/Akt/Erk1/2 pathway to mediate normal pregnancy.
Title: M2 macrophage-derived G-CSF promotes trophoblasts EMT, invasion and migration via activating PI3K/Akt/Erk1/2 pathway to mediate normal pregnancy.

Submit: New GeneRIF Correction See all GeneRIFs (168)

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
Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci are associated with white blood cell phenotypes. 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 infected clinical samples have plasma extracellular vesicles that contain elevated CCL1 (I309), IGFBP1, CCL5 (RANTES), GMCSF, ANG, ADIPOQ (ACRP30), CSF3 (GCSF), CXCL1 (GRO), ICAM1, IL2RA, IL6R, TNFRSF1A, and TIMP1 when compared to healthy donors	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

CSF3_10.2 (e-PCR)
- UniSTS:280624

G60027 (e-PCR)
- UniSTS:137293

D17S2007 (e-PCR)
- UniSTS:55146

PMC316641P2 (e-PCR)
- UniSTS:273026

GDB:178573 (e-PCR)
- UniSTS:155025

RH18072 (e-PCR)
- UniSTS:21661

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 cytokine activity	NAS Non-traceable Author Statement more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables granulocyte colony-stimulating factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to cytokine stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in granulocyte colony-stimulating factor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in granulocyte differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of myeloid cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endocytic vesicle 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 lysosomal lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: granulocyte colony-stimulating factor

Names: filgrastim; granulocyte-colony stimulating factor; lenograstim; pluripoietin

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.

mRNA and Protein(s)

NM_000759.4 → NP_000750.1 granulocyte colony-stimulating factor isoform a precursor

See identical proteins and their annotated locations for NP_000750.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

BC033245, CB127794, X03438

Consensus CDS

CCDS11357.1

UniProtKB/Swiss-Prot

A8MXR7, P09919

UniProtKB/TrEMBL

Q8N4W3

Related

ENSP00000225474.2, ENST00000225474.6

Conserved Domains (1) summary

pfam16647
Location:51 → 202

GCSF; Granulocyte colony-stimulating factor
NM_001178147.2 → NP_001171618.1 granulocyte colony-stimulating factor isoform d precursor

See identical proteins and their annotated locations for NP_001171618.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate, in-frame splice site and lacks an in-frame exon in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform d), compared to isoform a.

Source sequence(s)

BC033245, CB127794, X03438

UniProtKB/TrEMBL

J3QRX2

Related

ENSP00000464421.1, ENST00000583218.5

Conserved Domains (1) summary

cl02473
Location:51 → 163

IL6; Interleukin-6/G-CSF/MGF family
NM_172219.3 → NP_757373.1 granulocyte colony-stimulating factor isoform b precursor

See identical proteins and their annotated locations for NP_757373.1

Status: REVIEWED

Description

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

Source sequence(s)

AK313509, BC033245, CB127794, X03655

Consensus CDS

CCDS42314.1

UniProtKB/TrEMBL

Q6FH65, Q8N4W3

Related

ENSP00000377705.4, ENST00000394149.8

Conserved Domains (1) summary

pfam16647
Location:51 → 199

GCSF; Granulocyte colony-stimulating factor
NM_172220.3 → NP_757374.2 granulocyte colony-stimulating factor isoform c precursor

See identical proteins and their annotated locations for NP_757374.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.

Source sequence(s)

BC033245, CB127794, CD013926, X03655

Consensus CDS

CCDS11358.2

UniProtKB/TrEMBL

J3QRX2

Related

ENSP00000377704.3, ENST00000394148.7

Conserved Domains (1) summary

cl02473
Location:51 → 166

IL6; Interleukin-6/G-CSF/MGF family

RNA

NR_033662.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate segment and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC033245, CB127794, X03438

Related

ENST00000331769.6
NR_168489.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC090844

Related

ENST00000577675.1
NR_168490.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC090844
NR_168491.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC090844