CSF1R - colony stimulating factor 1 receptor Gene
Also Known as FMS; CSFR; FIM2; HDLS; C-FMS; CD115; HDLS1; CSF-1R; BANDDOS; M-CSF-R
Species: Homo sapiens
About CSF1R
This gene has 10 transcripts (splice variants), 273 orthologues, 53 paralogues and is associated with 108 phenotypes. Broad expression in spleen (RPKM 68.6), placenta (RPKM 60.0) and 22 other tissues.
Summary
The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]
CSF1R Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_005211.4 | NP_005202.2 | macrophage colony-stimulating factor 1 receptor isoform a precursor |
| NM_001288705.3 | NP_001275634.1 | macrophage colony-stimulating factor 1 receptor isoform a precursor |
| NM_001349736.2 | NP_001336665.1 | macrophage colony-stimulating factor 1 receptor isoform a precursor |
| NM_001375321.1 | NP_001362250.1 | macrophage colony-stimulating factor 1 receptor isoform b |
| NR_109969.2 | ||
| NM_001375320.1 | NP_001362249.1 | macrophage colony-stimulating factor 1 receptor isoform a precursor |
| NR_164679.1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cytokine binding |
IDA
IDA: Inferred from direct assay
|
20504948 | GOA |
| enables macrophage colony-stimulating factor receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
7683918 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
22153499 | GOA |
CSF1R Protein Structure
Ig_3: Immunoglobulin domain (28 - 85)
ig: Immunoglobulin domain (217 - 280)
Ig_3: Immunoglobulin domain (412 - 489)
Pkinase_Tyr: Protein tyrosine kinase (582 - 910)
- 0
- 200
- 400
- 600
- 800
- 972 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
macrophage colony-stimulating factor 1 receptor |
|
|
CSF1R Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CSF1R | P07333 | EPHB2 | Homo sapiens | P29323 | 35384245 | |
|
Intra
|
CSF1R | P07333 | EPHB2 | Homo sapiens | P29323 | 35384245 | |
|
Intra
|
CSF1R | P07333 | EPHA7 | Homo sapiens | Q15375 | 35384245 | |
|
Intra
|
CSF1R | P07333 | CSF1 | Homo sapiens | P09603 | 22483114 | |
|
Intra
|
CSF1R | P07333 | CSF1 | Homo sapiens | P09603 | 22483114 |
Recombinant CSF1R Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72509 | CSF1R Protein, Human (HEK293, His) | P07333-1/NP_005202.2 (I20-P517) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P73510 | CSF1R Protein, Human (HEK293, C-His-Avi) | P07333-1 (I20-E512) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P72949 | CSF1R Protein, Human (HEK293, hFc) | P07333-1 (I20-E512) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72948 | CSF1R Protein, Human (HEK293) | P07333-1/NP_005202.2 (I20-E512) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P72950 | CSF1R Protein, Human (HEK293, mFc) | P07333-1 (I20-P517) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P75323 | CSF1R Protein, Human (HEK293, His-Fc) | P07333-1 (I20-E512) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P75326 | CSF1R Protein, Human (271a.a, HEK293, His) | P07333-1 (I20-S290) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P75327 | CSF1R Protein, Human (214a.a, HEK293, His) | P07333-1 (A299-E512) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P78109 | CSF1R Protein, Human (Biotinylated, HEK293, His-Avi) | P07333-1 (I20-E512) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P700511 | CSF1R Protein, Human (HEK293, His-Flag) | P07333-1 (I20-E512) | ≥ 90%, as determined by reducing SDS-PAGE. |
CSF1R Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81554 | CSF-1R Antibody (YA1299) | IHC-P | Human |
| HY-P81554A | CSF-1R Antibody (YA1299)(PBS only) | IHC-P | Human |
| HY-P83988 | CSF-1R Antibody (YA3685) | IHC-P, ICC/IF, ELISA | Human |
| HY-P83988A | CSF-1R Antibody (YA3685)(PBS only) | IHC-P, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myeloid Leukemia |
|
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| Leukodystrophy |
|
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| Synovium Neoplasm |
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| Autosomal Recessive Disease |
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| Breast Cancer |
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| Alzheimer Disease 10 |
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| Osteopetrosis |
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| Nervous System Disease |
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| Frontotemporal Dementia |
|
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| Myeloproliferative Neoplasm |
|
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| Leukemia, Acute Lymphoblastic |
|
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| Ovarian Cancer |
|
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| Acute Promyelocytic Leukemia |
|
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| Benign Giant Cell Tumor |
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| Cerebral Degeneration |
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| Endometrial Cancer |
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| Gastrointestinal Stromal Tumor |
|
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| Pigmented Villonodular Synovitis |
|
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| Alzheimer Disease, Familial, 1 |
|
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| Chromosome 5q Deletion Syndrome |
|
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| Deficiency Anemia |
|
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| Myelodysplastic Syndrome |
|
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| Breast Adenocarcinoma |
|
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| Malignant Giant Cell Tumor Of The Tendon Sheath |
|
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| Colorectal Cancer |
|
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| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
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| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
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| Rheumatoid Arthritis |
|
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| Duodenum Adenoma |
|
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| Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia |
|
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| Connective Tissue Benign Neoplasm |
|
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| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
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| Csf1r-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia |
|
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| Dysosteosclerosis |
|
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| Tenosynovial Giant Cell Tumor |
|
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| Lymphoma |
|
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| Hematologic Cancer |
|
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| Amyotrophic Lateral Sclerosis 1 |
|
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| Bone Benign Neoplasm |
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| Nodular Tenosynovitis |
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| Dementia |
|
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| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
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| Leukemia |
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| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
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| Anaplastic Large Cell Lymphoma |
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| Sarcoma |
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| Histiocytic Sarcoma |
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| Acute Myelomonocytic Leukemia |
|
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| Chronic Myelomonocytic Leukemia |
|
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| Fibrosarcoma Of Bone |
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| Fibrosarcoma |
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| Renal Cell Carcinoma, Nonpapillary |
|
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| Leukemia, Acute Myeloid |
|
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| Myelofibrosis |
|
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| Arthritis |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | CSF1R | VGNC | VGNC:27754 |
| Mus musculus | CSF1R | MGD | MGI:1339758 |
| Rattus norvegicus | CSF1R | RGD | RGD:2425 |
| Macaca mulatta | CSF1R | VGNC | VGNC:71514 |
| Felis catus | CSF1R | VGNC | VGNC:61215 |
| Canis familiaris | CSF1R | VGNC | VGNC:39653 |
| Others | CSF1R | NCBI |