• Gene id: 1441

Gene Summary

• Gene Symbol: CSF3R   Gene   UCSC   Ensembl
• Aliases: CD114, GCSFR, SCN7
• Gene name: colony stimulating factor 3 receptor
• Alternate names: granulocyte colony-stimulating factor receptor, CD114 antigen, G-CSF receptor, G-CSF-R, colony stimulating factor 3 receptor (granulocyte),
• Gene location: 1p34.3 (36483313: 36466042)     Exons: 19     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 138971

Protein Summary

• Protein general information: Q99062  
  • Name: Granulocyte colony stimulating factor receptor (G CSF receptor) (G CSF R) (CD antigen CD114)
  • Length: 836  
  • Mass: 92156
  • Tissue specificity: One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U-937 cell line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia U-937 cells. Isoform
• Sequence:

  MARLGNCSLTWAALIILLLPGSLEECGHISVSAPIVHLGDPITASCIIKQNCSHLDPEPQILWRLGAELQPGGRQ
  QRLSDGTQESIITLPHLNHTQAFLSCCLNWGNSLQILDQVELRAGYPPAIPHNLSCLMNLTTSSLICQWEPGPET
  HLPTSFTLKSFKSRGNCQTQGDSILDCVPKDGQSHCCIPRKHLLLYQNMGIWVQAENALGTSMSPQLCLDPMDVV
  KLEPPMLRTMDPSPEAAPPQAGCLQLCWEPWQPGLHINQKCELRHKPQRGEASWALVGPLPLEALQYELCGLLPA
  TAYTLQIRCIRWPLPGHWSDWSPSLELRTTERAPTVRLDTWWRQRQLDPRTVQLFWKPVPLEEDSGRIQGYVVSW
  RPSGQAGAILPLCNTTELSCTFHLPSEAQEVALVAYNSAGTSRPTPVVFSESRGPALTRLHAMARDPHSLWVGWE
  PPNPWPQGYVIEWGLGPPSASNSNKTWRMEQNGRATGFLLKENIRPFQLYEIIVTPLYQDTMGPSQHVYAYSQEM
  APSHAPELHLKHIGKTWAQLEWVPEPPELGKSPLTHYTIFWTNAQNQSFSAILNASSRGFVLHGLEPASLYHIHL
  MAASQAGATNSTVLTLMTLTPEGSELHIILGLFGLLLLLTCLCGTAWLCCSPNRKNPLWPSVPDPAHSSLGSWVP
  TIMEEDAFQLPGLGTPPITKLTVLEEDEKKPVPWESHNSSETCGLPTLVQTYVLQGDPRAVSTQPQSQSGTSDQV
  LYGQLLGSPTSPGPGHYLRCDSTQPLLAGLTPSPKSYENLWFQASPLGTLVTPAPSQEDDCVFGPLLNFPLLQGI
  RVHGMEALGSF

• Structural information:
  • Protein Domains: (25..11-)
    (/note="Ig-like-C2-type)
    (125..23-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (233..33-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (334.-)
  • Interpro: IPR003961  IPR036116  IPR003529  IPR036179  IPR013783   IPR010457  
  • Prosite: PS50853 PS01353
  • CDD: cd00063
  • PDB: 1AZ7 2D9Q
  • PDBsum: 1AZ7 2D9Q
  • DIP: 5788
  • STRING: ENSP00000362195
• Other Databases: GeneCards:  CSF3R  Malacards:  CSF3R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051916	granulocyte colony-stimulating factor binding	IBA	molecular function
GO:0043235	receptor complex	IBA	cellular component
GO:0019955	cytokine binding	IBA	molecular function
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0004896	cytokine receptor activity	IBA	molecular function
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006952	defense response	TAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030593	neutrophil chemotaxis	IEA	biological process
GO:0051916	granulocyte colony-stimulating factor binding	IEA	molecular function
GO:0097186	amelogenesis	IEA	biological process
GO:0045637	regulation of myeloid cell differentiation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Atypical chronic myeloid leukemia	KEGG:H02412
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Atypical chronic myeloid leukemia	KEGG:H02412
Severe congenital neutropenia	PMID:11110716
Severe congenital neutropenia	PMID:16985178
Myelodysplastic syndrome	PMID:12670333
Myelodysplastic syndrome	PMID:15644419
chronic neutrophilic leukemia	PMID:24081659
chronic neutrophilic leukemia	PMID:23604229
chronic myelomonocytic leukemia	PMID:23774674
Cystic fibrosis	PMID:19293384
Myeloproliferative neoplasm	PMID:23897249
acute myeloid leukemia	PMID:9001427
acute myeloid leukemia	PMID:24746896
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq