Seroatlas · Human Serome Atlas

CSF1R

Macrophage colony-stimulating factor 1 receptor

Also known as: C-FMS, CD115, CSF1R_HUMAN, CSFR, FMS

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P07333
Gene: CSF1R
Ensembl: ENSG00000182578
Chromosome: 5
Canonical length: 972 aa
Protein class: Cancer-related genes, CD markers, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, RAS pathway related proteins, Transporters
Subcellular location: Vesicles,Plasma membrane
Secretome location: Intracellular and membrane
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

972 residues, UniProt reviewed canonical sequence.

>P07333|CSF1R
     1  MGPGVLLLLL VATAWHGQGI PVIEPSVPEL VVKPGATVTL RCVGNGSVEW DGPPSPHWTL
    61  YSDGSSSILS TNNATFQNTG TYRCTEPGDP LGGSAAIHLY VKDPARPWNV LAQEVVVFED
   121  QDALLPCLLT DPVLEAGVSL VRVRGRPLMR HTNYSFSPWH GFTIHRAKFI QSQDYQCSAL
   181  MGGRKVMSIS IRLKVQKVIP GPPALTLVPA ELVRIRGEAA QIVCSASSVD VNFDVFLQHN
   241  NTKLAIPQQS DFHNNRYQKV LTLNLDQVDF QHAGNYSCVA SNVQGKHSTS MFFRVVESAY
   301  LNLSSEQNLI QEVTVGEGLN LKVMVEAYPG LQGFNWTYLG PFSDHQPEPK LANATTKDTY
   361  RHTFTLSLPR LKPSEAGRYS FLARNPGGWR ALTFELTLRY PPEVSVIWTF INGSGTLLCA
   421  ASGYPQPNVT WLQCSGHTDR CDEAQVLQVW DDPYPEVLSQ EPFHKVTVQS LLTVETLEHN
   481  QTYECRAHNS VGSGSWAFIP ISAGAHTHPP DEFLFTPVVV ACMSIMALLL LLLLLLLYKY
   541  KQKPKYQVRW KIIESYEGNS YTFIDPTQLP YNEKWEFPRN NLQFGKTLGA GAFGKVVEAT
   601  AFGLGKEDAV LKVAVKMLKS TAHADEKEAL MSELKIMSHL GQHENIVNLL GACTHGGPVL
   661  VITEYCCYGD LLNFLRRKAE AMLGPSLSPG QDPEGGVDYK NIHLEKKYVR RDSGFSSQGV
   721  DTYVEMRPVS TSSNDSFSEQ DLDKEDGRPL ELRDLLHFSS QVAQGMAFLA SKNCIHRDVA
   781  ARNVLLTNGH VAKIGDFGLA RDIMNDSNYI VKGNARLPVK WMAPESIFDC VYTVQSDVWS
   841  YGILLWEIFS LGLNPYPGIL VNSKFYKLVK DGYQMAQPAF APKNIYSIMQ ACWALEPTHR
   901  PTFQQICSFL QEQAQEDRRE RDYTNLPSSS RSGGSGSSSS ELEEESSSEH LTCCEQGDIA
   961  QPLLQPNNYQ FC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CSF1R can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 107 nTPM

Expression across tissuesHPA

Tissue

spleen: 107 nTPM
placenta: 97 nTPM
appendix: 71 nTPM
lymph node: 51 nTPM
adipose tissue: 48 nTPM
urinary bladder: 40 nTPM

Single-cell type

microglia: 702 nCPM
hofbauer cells: 648 nCPM
kupffer cells: 439 nCPM
macrophages: 330 nCPM
extravillous trophoblasts: 226 nCPM
monocytes: 160 nCPM

Immune cell

non-classical monocyte: 650 nTPM
intermediate monocyte: 445 nTPM
myeloid DC: 139 nTPM
classical monocyte: 138 nTPM
total PBMC: 133 nTPM
neutrophil: 22 nTPM

Brain region

white matter: 153 nTPM
medulla oblongata: 98 nTPM
thalamus: 94 nTPM
pons: 90 nTPM
spinal cord: 87 nTPM
hypothalamus: 80 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CSF1R.

Disease | AllUniProt

Conditions CSF1R is implicated in, by any mechanism.

Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1) MIM:221820
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) MIM:618476

Disease | GeneticClinVar

83 pathogenic / likely-pathogenic of 1,031 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hereditary diffuse leukoencephalopathy with spheroids
Leukoencephalopathy, diffuse hereditary, with spheroids 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis
CSF1R-related disorder
Alzheimer disease

Disease | ImmuneIEDB

Conditions an epitope on CSF1R was assayed in.

glioblastoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.39
gnomAD pLI: 0.13
gnomAD missense Z: 1.57
DepMap mean gene effect: 0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CSF1R in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CSF1R as an antibody target. Whether an autoantibody or antibody against CSF1R could matter depends on whether native CSF1R is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CSF1R is annotated at the cell surface, where native CSF1R is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CSF1R as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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