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

    Gene ID: 1440, updated on 28-Oct-2024

    Summary

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    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

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    See CSF3 in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene gasdermin A Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:38134870-38136069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12120 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38136971-38137948 Neighboring gene uncharacterized LOC124904000 Neighboring gene proteasome 26S subunit, non-ATPase 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38148510-38148687 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38167559-38168498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38171603-38172102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38182900-38183810 Neighboring gene mediator complex subunit 24 Neighboring gene small nucleolar RNA, C/D box 124 Neighboring gene microRNA 6884

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Generation of transgenic chickens that produce bioactive human granulocyte-colony stimulating factor. Kwon MS, et al. Mol Reprod Dev, 2008 Jul. PMID 18196568
    2. Complete sequencing of the recombinant granulocyte-colony stimulating factor (filgrastim) and detection of biotinylation by mass spectrometry. Ahmed KE, et al. Amino Acids, 2010 Apr. PMID 19526310
    3. Prostate cancer-producing granulocyte colony-stimulating factor. Matsuoka Y, et al. Urol Int, 2009. PMID 19172109
    4. Temporal alterations in concentrations of sera cytokines/chemokines in sepsis due to group B streptococcus infection in a neonate. Okazaki K, et al. Jpn J Infect Dis, 2008 Sep. PMID 18806347
    5. Cardioprotective effects of granulocyte colony-stimulating factor in angiotensin II-induced cardiac remodelling. Jia N, et al. Clin Exp Pharmacol Physiol, 2009 Mar. PMID 18785976

    See all (225) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
    EBI GWAS Catalog
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC45931

    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)

    1. 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

    2. 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

    3. 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

    4. 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

    1. 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

    2. NR_168489.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090844
      Related
      ENST00000577675.1

    3. NR_168490.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090844

    4. NR_168491.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090844

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      40015440..40017813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40879315..40881689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09919.1 GenPept UniProtKB/Swiss-Prot:P09919

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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