CSF3R colony stimulating factor 3 receptor (granulocyte) [Homo sapiens] - Gene

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Summary

Official Symbol: CSF3Rprovided by HGNC
Official Full Name: colony stimulating factor 3 receptor (granulocyte)provided by HGNC
Primary source: HGNC:2439
See related: Ensembl:ENSG00000119535; HPRD:00737; 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: 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]

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Genomic context

Location :: 1p35-p34.3

Sequence :: Chromosome: 1; NC_000001.10 (36931644..36948915, complement)

See CSF3R in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Pretreatment of PMNs with IFN-gamma or G-CSF for a long-time (22 h)induced a significant lower fungal damage against biofilms compared with planktonic cells.
Title: Effects of interferon-γ and granulocyte colony-stimulating factor on antifungal activity of human polymorphonuclear neutrophils against Candida albicans grown as biofilms or planktonic cells.
Gemcitabine can enhance in vitro the expression rate of bone marrow G-CSFR in chronic myeloid leukemia patients at chronic or blastic phases.
Title: [Effect of gemcitabine on granulocyte colony-stimulating factor receptor and bcr/abl mRNA in patients with chronic myeloid leukemia].
Two cases of X-linked neutropenia are reported that evolved to acute myeloid leukemia or myelodysplasia, with acquisition of G-CSF receptor mutations.
Title: G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.
There was no significant difference in expression rate of G-CSFR on CD34+ cells between aplastic anemia, myelodysplastic syndrome, and controls.
Title: [Expression of G-CSF and GM-CSF receptors on CD34 positive cells in aplastic anemia and myelodysplastic syndrome patients and its significance].
CD123+CD34+CD38- cells exhibited lower expression of G-CSF receptors, which might partly explain why MDS clone responds worse to G-CSF in vitro and in vivo.
Title: Expression of CD123 and CD114 on the bone marrow cells of patients with myelodysplastic syndrome.
The results reported in this study suggest a role for CSF3R in the determination of bone density in women.
Title: High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density.
Data from rna interference of G-CSFR messenger RNA demonstrated the limited specificity of antibodies for HuG-CSFR expressed on the cell surface.
Title: Most purported antibodies to the human granulocyte colony-stimulating factor receptor are not specific.
Transgenic Fn14/TWEAK receptor pathway in a mouse model is adversely involved in inflammatory and ischemic brain disease associated with the strongest increase of the endogenous neuroprotective G-CSF and the G-CSF receptor system.
Title: Neuroprotective effect of Fn14 deficiency is associated with induction of the granulocyte-colony stimulating factor (G-CSF) pathway in experimental stroke and enhanced by a pathogenic human antiphospholipid antibody.
G-CSF-induced upregulation of MT1-MMP in hematopoietic cells and its enhanced incorporation into membrane lipid rafts contributes to proMMP-2 activation, which facilitates mobilization of HSPC.
Title: MT1-MMP association with membrane lipid rafts facilitates G-CSF--induced hematopoietic stem/progenitor cell mobilization.
a possible role of G-CSF in malignant transformation, particularly in patients with neutropenia harboring mutations in the gene encoding the G-CSF receptor.
Title: G-CSF and its receptor in myeloid malignancy.

Submit: New GeneRIF Correction See all (36)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q99062	Q9NSE2	CISH	HPRD	PubMed
Q99062	P09919	CSF3	HPRD	PubMed
Q99062	Q99062	CSF3R	HPRD	PubMed
Q99062	P08246	ELANE	HPRD	PubMed
Q99062	P02794	FTH1	HPRD	PubMed
Q99062	P62993	GRB2	HPRD	PubMed
Q99062	P08631	HCK	HPRD	PubMed
Q99062	O00145	INPP5D	HPRD	PubMed
Q99062	P23458	JAK1	HPRD	PubMed
Q99062	O60674	JAK2	HPRD	PubMed
Q99062	P06239	LCK	HPRD	PubMed
Q99062	P07948	LYN	HPRD	PubMed
Q99062	P04054	PLA2G1B	HPRD	PubMed
Q99062	Q06124	PTPN11	HPRD	PubMed
Q99062	P29353	SHC1	HPRD	PubMed
Q99062	O14543	SOCS3	HPRD	PubMed
Q99062	P40763	STAT3	HPRD	PubMed
Q99062	P43405	SYK	HPRD	PubMed
BioGRID:107828	BioGRID:119489	FZR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107828	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western; Far Western; PCA
BioGRID:107828	BioGRID:109305	HCK	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107828	BioGRID:109919	JAK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107828	BioGRID:110245	LYN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107828	BioGRID:111745	PTPN11	BioGRID	PubMed	Far Western
BioGRID:107828	BioGRID:112361	SHC1	BioGRID	PubMed	Affinity Capture-Western; Far Western; PCA
BioGRID:107828	BioGRID:112717	SYK	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107828	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107828	BioGRID:117560	WSB1	BioGRID	PubMed	Affinity Capture-Western; PCA
BioGRID:107828	BioGRID:120976	WSB2	BioGRID	PubMed	Affinity Capture-Western; Co-localization; PCA

Function	Evidence Code	Pubs
cytokine receptor activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell adhesion	IEA Inferred from Electronic Annotation more info
defense response	TAS Traceable Author Statement more info	PubMed
signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: granulocyte colony-stimulating factor receptor

Names: granulocyte colony-stimulating factor receptor; G-CSF-R; CD114 antigen; G-CSF receptor

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NCBI Reference Sequences (RefSeq)

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

NG_016270.1 RefSeqGene

Range

4595..21866

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_144

mRNA and Protein(s)

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

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, OTTHUMP00000009703, ENST00000373106, OTTHUMT00000021997

Conserved Domains (3) summary

cd00063
Location:527 – 607
Blast Score: 105

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 ...

pfam06328
Location:22 – 111
Blast Score: 299

Lep_receptor_Ig; Ig-like C2-type domain

cl00065
Location:430 – 514
Blast Score: 95

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 ...
NM_156039.3 → NP_724781.1 granulocyte colony-stimulating factor receptor isoform c precursor

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, OTTHUMP00000009705, ENST00000373103, OTTHUMT00000022000

Conserved Domains (3) summary

cd00063
Location:527 – 607
Blast Score: 105

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 ...

pfam06328
Location:22 – 111
Blast Score: 299

Lep_receptor_Ig; Ig-like C2-type domain

cl00065
Location:430 – 514
Blast Score: 95

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 ...
NM_172313.2 → NP_758519.1 granulocyte colony-stimulating factor receptor isoform d precursor

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, OTTHUMP00000009704, ENST00000373104, OTTHUMT00000021999

Conserved Domains (3) summary

cd00063
Location:527 – 607
Blast Score: 105

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 ...

pfam06328
Location:22 – 111
Blast Score: 299

Lep_receptor_Ig; Ig-like C2-type domain

cl00065
Location:430 – 514
Blast Score: 95

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

36931644..36948915, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

35048209..35065480, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC119675.2 (99971..116836)	None
genomic	AY148100.1	AAN05790.1
genomic	CH471059.2	EAX07354.1
		EAX07355.1
		EAX07356.1
		EAX07357.1
		EAX07358.1
genomic	S71484.1	AAB20660.1
mRNA	AB209656.1	BAD92893.1
mRNA	AK307242.1	None
mRNA	BC040954.1	None
mRNA	BC053585.1	AAH53585.1
mRNA	BI912247.1	None
mRNA	BU681211.1	None
mRNA	BX370109.2	None
mRNA	DA858302.1	None
mRNA	DQ424902.1	ABD83667.1
mRNA	M59818.1	AAA63176.1
mRNA	M59819.1	AAA63177.1
mRNA	M59820.1	AAA63178.1
mRNA	X55720.1	CAA39252.1
mRNA	X55721.1	CAA39253.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q1ZYL6	GenPept	UniProtKB/TrEMBL:Q1ZYL6
Q59F05	GenPept	UniProtKB/TrEMBL:Q59F05
Q99062.1	GenPept	UniProtKB/Swiss-Prot:Q99062