Gene
csf1ra
- ID
- ZDB-GENE-001205-1
- Name
- colony stimulating factor 1 receptor, a
- Symbol
- csf1ra Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have growth factor binding activity and macrophage colony-stimulating factor receptor activity. Involved in several processes, including immune response in brain or nervous system; macrophage chemotaxis; and myeloid leukocyte differentiation. Predicted to localize to CSF1-CSF1R complex; integral component of plasma membrane; and receptor complex. Human ortholog(s) of this gene implicated in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia and renal cell carcinoma. Is expressed in several structures, including hematopoietic cell; neural crest cell; pigment cell; rostral blood island; and trunk neural crest. Orthologous to human CSF1R (colony stimulating factor 1 receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 84 figures from 59 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d116 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 64 figures from 27 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | Alliance | Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 221820 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 618476 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| CSF1R-related brain malformation and osteopetrosis | csf1raj4e1/j4e1 | standard conditions | Oosterhof et al., 2019 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008266 | Tyrosine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Conserved_site | IPR001824 | Tyrosine-protein kinase, receptor class III, conserved site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
| Family | IPR030658 | Macrophage colony-stimulating factor 1 receptor |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype | Immunoglobulin subtype 2 | Macrophage colony-stimulating factor 1 receptor | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, receptor class III, conserved site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B3DHL0
|
977 | |||||||||||||
|
UniProtKB:A0A8M9QKN6
|
977 | |||||||||||||
|
UniProtKB:Q9I8N6
|
977 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
csf1ra-201
(1)
|
Havana | 3459 nt | |
| ncRNA |
csf1ra-002
(1)
|
Havana | 2788 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-csf1ra | polyclonal | IgG | Rabbit |
|
AnaSpec
|
3 |
Plasmids
No data available