RBCC Red Blood Cell Collection

CSF3R_HUMAN

Source: BD_CD
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: CSF3R , GCSFR
Protein names and data: CSF3R_HUMAN , Granulocyte colony-stimulating factor receptor; G-CSF receptor; G-CSF-R , CD114; Flags: Precursor Lenght: 836 a.a.
Mass: 92156 Da
fasta formatted sequence
Function: Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.
Disease: ( OMIM: 138971 162830 ) Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Isoform 2: Secreted (Probable). Cell membrane; Single-pass type I membrane protein.
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 GCSFR-3 is highly expressed in placenta.

Genetic variants

229 - 229 P -> H (in a patient with severe congenital neutropenia hyporesponsive to CSF3 treatment; affects CSF3 mediated proliferation and survival of myeloid cells; abrogates receptor signaling by altering ligand binding). VAR_062517
231 - 231 M -> T (in dbSNP:rs3917973). VAR_014325 3917973
320 - 320 D -> N (in dbSNP:rs3918018). VAR_014326 3918018
346 - 346 Q -> R (in dbSNP:rs3917974). VAR_014327 3917974
405 - 405 E -> K (in dbSNP:rs3918019). VAR_014328 3918019
440 - 440 R -> Q (in dbSNP:rs3918020). VAR_014329 3918020
510 - 510 D -> H (in dbSNP:rs3917991). VAR_014330 3917991
562 - 562 Y -> H (in dbSNP:rs3917996). VAR_014331 3917996
583 - 583 R -> C (in dbSNP:rs3917997). VAR_014332 3917997
640 - 640 T -> N (in neutrophilia; dbSNP:rs121918426). VAR_063065 121918426

Database cross-references

UniProt: Q99062
Ensembl: ENST00000331941
Ensembl: ENST00000361632
Ensembl: ENST00000373103
Ensembl: ENST00000373104
Ensembl: ENST00000373106
Ensembl: ENST00000418048
Ensembl: ENST00000440588
MIM: 138971
MIM: 162830
neXtProt: NX_Q99062
Antibodypedia: Q99062 (may not find the protein thus also not any antibody)
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