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 enable growth factor binding activity and macrophage colony-stimulating factor receptor activity. Acts upstream of or within several processes, including immune response in brain or nervous system; macrophage chemotaxis; and myeloid cell development. Predicted to be located in membrane. Predicted to be part of CSF1-CSF1R complex and receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including eye; hematopoietic cell; hematopoietic system; integument; and neural crest cell. Used to study CSF1R-related brain malformation and osteopetrosis. Human ortholog(s) of this gene implicated in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; diabetes mellitus; gastrointestinal system cancer (multiple); lung cancer (multiple); and renal cell carcinoma. Orthologous to human CSF1R (colony stimulating factor 1 receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 88 figures from 63 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d116 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 66 figures from 28 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| csf1ra_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
| j4blue | Allele with one deletion | Unknown | Frameshift, Premature Stop | not specified | |
| j4e1 | Allele with one point mutation | Unknown | Missense | ENU | |
| j4e2 | Allele with one point mutation | Unknown | Missense | ENU | |
| mh5 | unknown | Unknown | Unknown | ENU | |
| nku3 | Allele with one delins | Unknown | Unknown | CRISPR | |
| re25 | Allele with one point mutation | Unknown | Unknown | CRISPR | |
| re26 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa9484 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa15067 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 10 of 28
Show
1 - 10 of 12
Show
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 |
1 - 2 of 2
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| CSF1R-related brain malformation and osteopetrosis | csf1raj4e1/j4e1 | standard conditions | Oosterhof et al., 2019 |
1 - 1 of 1
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 |
1 - 5 of 14 Show all
Domain Details Per Protein
| Protein | Additional Resources | Length | Immunoglobulin domain subtype | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Macrophage colony-stimulating factor 1 receptor | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | 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 | InterPro | 977 | ||||||||||||||
| UniProtKB:A0A8M9QKN6 | InterPro | 977 | ||||||||||||||
| UniProtKB:Q9I8N6 | InterPro | 977 |
1 - 3 of 3
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
csf1ra-201
(1)
|
Ensembl | 3,459 nt | ||
| mRNA |
csf1ra-203
(1)
|
Ensembl | 3,522 nt | ||
| mRNA |
csf1ra-204
(1)
|
Ensembl | 3,004 nt | ||
| ncRNA |
csf1ra-002
(1)
|
Ensembl | 2,788 nt |
1 - 4 of 4
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-csf1ra | polyclonal | IgG | Rabbit |
|
AnaSpec
|
3 |
1 - 1 of 1
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| TgBAC(csf1ra:GAL4-VP16) |
|
| 1 | (43) | |
| TgBAC(csf1ra:GFP) |
|
| 1 | (7) | |
| Tg(csf1ra-E1B:GFP) |
|
| 1 | Caetano-Lopes et al., 2020 | |
| Tg(mpeg1.1:csf1ra) |
|
| 1 | Yu et al., 2023 |
1 - 4 of 4
Show
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | Fosmid | CH1073-425O22 | ZFIN Curated Data | |
| Contained in | Fosmid | ZFOS-1069F5 | ZFIN Curated Data | |
| Encodes | cDNA | cssl:d116 | Bushell et al., 2007 | |
| Encodes | cDNA | MGC:194643 | ZFIN Curated Data |
1 - 4 of 4
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131672 (1) | 3581 nt | ||
| Genomic | GenBank:CU672236 (2) | 36681 nt | ||
| Polypeptide | UniProtKB:A0A8M9QKN6 (1) | 977 aa |
- Marchese, M., Bernardi, S., Ogi, A., Licitra, R., Silvi, G., Mero, S., Galatolo, D., Gammaldi, N., Doccini, S., Ratto, G.M., Rapposelli, S., Neuhauss, S.C.F., Zang, J., Rocchiccioli, S., Michelucci, E., Ceccherini, E., Santorelli, F.M. (2024) Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model. Neurobiology of disease. 197:106536
- Ranasinghe, T., Seo, Y., Park, H.C., Choe, S.K., Cha, S.H. (2024) Rotenone exposure causes features of Parkinson`s disease pathology linked with muscle atrophy in developing zebrafish embryo. Journal of hazardous materials. 480:136215136215
- Rutherford, H.A., Candeias, D., Duncan, C.J.A., Renshaw, S.A., Hamilton, N. (2024) Macrophage transplantation rescues RNASET2-deficient leukodystrophy by replacing deficient microglia in a zebrafish model. Proceedings of the National Academy of Sciences of the United States of America. 121:e2321496121e2321496121
- Allers, M., Bakker, P.A., Hoeksma, J., Spaink, H.P., den Hertog, J. (2023) Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae. Disease models & mechanisms. 16(2):
- Bravo, P., Liu, Y., Draper, B.W., Marlow, F.L. (2023) Macrophage activation drives ovarian failure and masculinization in zebrafish. Science advances. 9:eadg7488
- Chiang, H.J., Koo, D.E.S., Kitano, M., Burkitt, S., Unruh, J.R., Zavaleta, C., Trinh, L.A., Fraser, S.E., Cutrale, F. (2023) HyU: Hybrid Unmixing for longitudinal in vivo imaging of low signal-to-noise fluorescence. Nature Methods. 20(2):248-258
- Djannatian, M., Radha, S., Weikert, U., Safaiyan, S., Wrede, C., Deichsel, C., Kislinger, G., Rhomberg, A., Ruhwedel, T., Campbell, D.S., van Ham, T., Schmid, B., Hegermann, J., Möbius, W., Schifferer, M., Simons, M. (2023) Myelination generates aberrant ultrastructure that is resolved by microglia. The Journal of cell biology. 222(3):
- Hong, Y., Hu, C.B., Bai, J., Fan, D.D., Lin, A.F., Xiang, L.X., Shao, J.Z. (2023) Essential role of an ERV-derived Env38 protein in adaptive humoral immunity against an exogenous SVCV infection in a zebrafish model. PLoS pathogens. 19:e1011222e1011222
- Liao, X., Lan, Y., Wang, W., Zhang, J., Shao, R., Yin, Z., Gudmundsson, G.H., Bergman, P., Mai, K., Ai, Q., Wan, M. (2023) Vitamin D influences gut microbiota and acetate production in zebrafish (Danio rerio) to promote intestinal immunity against invading pathogens. Gut microbes. 15:21875752187575
- O'Brown, N.M., Patel, N.B., Hartmann, U., Klein, A.M., Gu, C., Megason, S.G. (2023) The secreted neuronal signal spock1 promotes blood-brain barrier development. Developmental Cell. 58(17):1534-1547.e6
1 - 10 of 218
Show