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CSF3R colony stimulating factor 3 receptor [ Homo sapiens (human) ]

Gene ID: 1441, updated on 5-Aug-2018
Official Symbol
CSF3Rprovided by HGNC
Official Full Name
colony stimulating factor 3 receptorprovided by HGNC
Primary source
HGNC:HGNC:2439
See related
Ensembl:ENSG00000119535 MIM:138971; Vega:OTTHUMG00000008010
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
SCN7; CD114; GCSFR
Summary
The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
Expression
Biased expression in bone marrow (RPKM 133.9), appendix (RPKM 79.2) and 5 other tissues See more
Orthologs
See CSF3R in Genome Data Viewer
Location:
1p34.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (36466043..36483314, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36931644..36948915, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984940 Neighboring gene organic solute carrier partner 1 Neighboring gene mitochondrial ribosomal protein S15 Neighboring gene ferritin light chain pseudogene 18 Neighboring gene uncharacterized LOC107984941 Neighboring gene uncharacterized LOC105378648

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
    Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Hematopoietic cell lineage, conserved biosystem (from KEGG)
    Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity IEA
Inferred from Electronic Annotation
more info
 
granulocyte colony-stimulating factor binding IEA
Inferred from Electronic Annotation
more info
 
interleukin-3 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-3 receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
amelogenesis IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response TAS
Traceable Author Statement
more info
PubMed 
neutrophil chemotaxis IEA
Inferred from Electronic Annotation
more info
 
regulation of myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
granulocyte colony-stimulating factor receptor
Names
CD114 antigen
G-CSF receptor
G-CSF-R
colony stimulating factor 3 receptor (granulocyte)

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

  1. NG_016270.1 RefSeqGene

    Range
    4595..21866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_144

mRNA and Protein(s)

  1. NM_000760.3NP_000751.1  granulocyte colony-stimulating factor receptor isoform a precursor

    See identical proteins and their annotated locations for NP_000751.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    BC053585, DA858302
    Consensus CDS
    CCDS413.1
    UniProtKB/Swiss-Prot
    Q99062
    Related
    ENSP00000362198.1, OTTHUMP00000009703, ENST00000373106.5, OTTHUMT00000021997
    Conserved Domains (4) summary
    smart00060
    Location:527607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24110
    Lep_receptor_Ig; Ig-like C2-type domain
  2. NM_156039.3NP_724781.1  granulocyte colony-stimulating factor receptor isoform c precursor

    See identical proteins and their annotated locations for NP_724781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region compared to variant 1, resulting in a longer isoform (c) compared to isoform a.
    Source sequence(s)
    BC053585, BX370109, DA858302, M59820
    Consensus CDS
    CCDS414.1
    UniProtKB/Swiss-Prot
    Q99062
    Related
    ENSP00000362195.1, OTTHUMP00000009705, ENST00000373103.5, OTTHUMT00000022000
    Conserved Domains (4) summary
    smart00060
    Location:527607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24110
    Lep_receptor_Ig; Ig-like C2-type domain
  3. NM_172313.2NP_758519.1  granulocyte colony-stimulating factor receptor isoform d precursor

    See identical proteins and their annotated locations for NP_758519.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate segment compared to variant 1, that causes a frameshift. The resulting isoform (d) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC053585, BX370109, DA858302, X55720
    Consensus CDS
    CCDS412.1
    UniProtKB/Swiss-Prot
    Q99062
    Related
    ENSP00000362196.1, OTTHUMP00000009704, ENST00000373104.5, OTTHUMT00000021999
    Conserved Domains (5) summary
    smart00060
    Location:527607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:122220
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    36466043..36483314 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270493.1XP_005270550.1  granulocyte colony-stimulating factor receptor isoform X3

    Conserved Domains (4) summary
    smart00060
    Location:527607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24110
    Lep_receptor_Ig; Ig-like C2-type domain
  2. XM_011540749.1XP_011539051.1  granulocyte colony-stimulating factor receptor isoform X2

    Conserved Domains (4) summary
    smart00060
    Location:527607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24110
    Lep_receptor_Ig; Ig-like C2-type domain
  3. XM_017000370.1XP_016855859.1  granulocyte colony-stimulating factor receptor isoform X1

    UniProtKB/Swiss-Prot
    Q99062
    Conserved Domains (4) summary
    smart00060
    Location:527607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24110
    Lep_receptor_Ig; Ig-like C2-type domain
  4. XM_011540748.3XP_011539050.1  granulocyte colony-stimulating factor receptor isoform X1

    See identical proteins and their annotated locations for XP_011539050.1

    UniProtKB/Swiss-Prot
    Q99062
    Conserved Domains (4) summary
    smart00060
    Location:527607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24110
    Lep_receptor_Ig; Ig-like C2-type domain
  5. XM_011540750.1XP_011539052.1  granulocyte colony-stimulating factor receptor isoform X4

    Conserved Domains (3) summary
    smart00060
    Location:303383
    FN3; Fibronectin type 3 domain
    cd00063
    Location:25105
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:206290
    fn3; Fibronectin type III domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_156038.2: Suppressed sequence

    Description
    NM_156038.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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