CSF3R

Protein identityUniProt · HPA

UniProt accession

Q99062

Gene

CSF3R

Ensembl

ENSG00000119535

Chromosome

1

Canonical length

836 aa

Protein class

Cancer-related genes, CD markers, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Secretome location

Intracellular and membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

836 residues, UniProt reviewed canonical sequence.

>Q99062|CSF3R
     1  MARLGNCSLT WAALIILLLP GSLEECGHIS VSAPIVHLGD PITASCIIKQ NCSHLDPEPQ
    61  ILWRLGAELQ PGGRQQRLSD GTQESIITLP HLNHTQAFLS CCLNWGNSLQ ILDQVELRAG
   121  YPPAIPHNLS CLMNLTTSSL ICQWEPGPET HLPTSFTLKS FKSRGNCQTQ GDSILDCVPK
   181  DGQSHCCIPR KHLLLYQNMG IWVQAENALG TSMSPQLCLD PMDVVKLEPP MLRTMDPSPE
   241  AAPPQAGCLQ LCWEPWQPGL HINQKCELRH KPQRGEASWA LVGPLPLEAL QYELCGLLPA
   301  TAYTLQIRCI RWPLPGHWSD WSPSLELRTT ERAPTVRLDT WWRQRQLDPR TVQLFWKPVP
   361  LEEDSGRIQG YVVSWRPSGQ AGAILPLCNT TELSCTFHLP SEAQEVALVA YNSAGTSRPT
   421  PVVFSESRGP ALTRLHAMAR DPHSLWVGWE PPNPWPQGYV IEWGLGPPSA SNSNKTWRME
   481  QNGRATGFLL KENIRPFQLY EIIVTPLYQD TMGPSQHVYA YSQEMAPSHA PELHLKHIGK
   541  TWAQLEWVPE PPELGKSPLT HYTIFWTNAQ NQSFSAILNA SSRGFVLHGL EPASLYHIHL
   601  MAASQAGATN STVLTLMTLT PEGSELHIIL GLFGLLLLLT CLCGTAWLCC SPNRKNPLWP
   661  SVPDPAHSSL GSWVPTIMEE DAFQLPGLGT PPITKLTVLE EDEKKPVPWE SHNSSETCGL
   721  PTLVQTYVLQ GDPRAVSTQP QSQSGTSDQV LYGQLLGSPT SPGPGHYLRC DSTQPLLAGL
   781  TPSPKSYENL WFQASPLGTL VTPAPSQEDD CVFGPLLNFP LLQGIRVHGM EALGSF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CSF3R can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

375 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CSF3R.

Disease | AllUniProt

Conditions CSF3R is implicated in, by any mechanism.

• Hereditary neutrophilia (NEUTROPHILIA) MIM:162830
• Neutropenia, severe congenital 7, autosomal recessive (SCN7) MIM:617014

Disease | GeneticClinVar

50 pathogenic / likely-pathogenic of 785 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• Hereditary neutrophilia
• Severe congenital neutropenia
• CSF3R-related disorder
• Early T cell progenitor acute lymphoblastic leukemia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.77

gnomAD pLI

0

gnomAD missense Z

1.2

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amelogenesis
• cell adhesion
• cytokine-mediated signaling pathway
• defense response
• neutrophil chemotaxis
• positive regulation of cell population proliferation
• regulation of myeloid cell differentiation
• signal transduction

Molecular functions

• cytokine binding
• cytokine receptor activity
• signaling receptor activity
• granulocyte colony-stimulating factor binding

Cellular components

• endocytic vesicle membrane
• external side of plasma membrane
• extracellular region
• lysosomal membrane
• plasma membrane
• receptor complex

Protein domainsUniProt · Pfam · InterPro

• Long hematopoietin receptor, Gp130 family 2, conserved site
• Fibronectin type III
• Immunoglobulin C2-set-like, ligand-binding
• Immunoglobulin-like fold
• Fibronectin type III superfamily
• Immunoglobulin-like domain superfamily
• Type I Cytokine Receptor Family, Type 2 Subfamily
• Fibronectin type III domain
• Ig-like C2-type domain

KeywordsUniProt

• Cell adhesion
• Cell membrane
• Disulfide bond
• Glycoprotein
• Immunoglobulin domain
• Membrane
• Receptor
• Repeat
• Secreted
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of CSF3R in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CEACAM1