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

    Gene ID: 1441, updated on 4-Feb-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
    Location:
    1p34.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    granulocyte colony-stimulating factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
    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
     
    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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 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_011540748.2XP_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

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      37047772..37065042 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.
    Support Center