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

Gene ID: 1440, updated on 7-Apr-2024

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
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Genomic context

Location:
17q21.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40015440..40017813)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40879315..40881689)
105.20220307 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
granulocyte colony-stimulating factor
Names
filgrastim
granulocyte-colony stimulating factor
lenograstim
pluripoietin

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_000759.4NP_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:51202
    GCSF; Granulocyte colony-stimulating factor
  2. NM_001178147.2NP_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:51163
    IL6; Interleukin-6/G-CSF/MGF family
  3. NM_172219.3NP_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:51199
    GCSF; Granulocyte colony-stimulating factor
  4. NM_172220.3NP_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:51166
    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_2023_10

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)