Gene

csf1ra

ID

ZDB-GENE-001205-1

Name

colony stimulating factor 1 receptor, a

Symbol

csf1ra Nomenclature History

Previous Names

c-fms (1)
csf1r
fms (1)
pfe (1)
sal (1)
salz (1)
panther
pfeffer (1)

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

Expression

All Expression Data

86 figures from 61 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cssl:d116 (8 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 64 figures from 27 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With csf1ra Human Ortholog

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

Associated With csf1ra Via Experimental Models

Human Disease	Fish	Conditions	Citations
CSF1R-related brain malformation and osteopetrosis	csf1ra^j4e1/j4e1	standard conditions	Oosterhof et al., 2019

Gene Ontology

Protein Domains

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 domain subtype
Domain	IPR007110	Immunoglobulin-like domain
Domain	IPR020635	Tyrosine-protein kinase, catalytic domain
Family	IPR030658	Macrophage colony-stimulating factor 1 receptor
Family	IPR050122	Receptor Tyrosine Kinase
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 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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	csf1ra-201 (1) Ensembl	Ensembl	3,459 nt	Select Tool
mRNA	csf1ra-203 (1) Ensembl	Ensembl	3,522 nt	Select Tool ZFIN BLAST
mRNA	csf1ra-204 (1) Ensembl	Ensembl	3,004 nt	Select Tool ZFIN BLAST
ncRNA	csf1ra-002 (1) Ensembl	Ensembl	2,788 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-csf1ra	polyclonal	csf1ra	IgG	Rabbit	WB	AnaSpec	3

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations