Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1435
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CSF1   Gene   UCSC   Ensembl
Aliases CSF-1, MCSF
Gene name colony stimulating factor 1
Alternate names macrophage colony-stimulating factor 1, colony stimulating factor 1 (macrophage), lanimostim, macrophage colony stimulating factor 1,
Gene location 1p13.3 (109910505: 109930993)     Exons: 10     NC_000001.11
Gene summary(Entrez) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
OMIM 120420

Protein Summary

Protein general information P09603  

Name: Macrophage colony stimulating factor 1 (CSF 1) (M CSF) (MCSF) (Lanimostim) [Cleaved into: Processed macrophage colony stimulating factor 1]

Length: 554  Mass: 60,179

Sequence MTAPGAAGRCPPTTWLGSLLLLVCLLASRSITEEVSEYCSHMIGSGHLQSLQRLIDSQMETSCQITFEFVDQEQL
KDPVCYLKKAFLLVQDIMEDTMRFRDNTPNAIAIVQLQELSLRLKSCFTKDYEEHDKACVRTFYETPLQLLEKVK
NVFNETKNLLDKDWNIFSKNCNNSFAECSSQDVVTKPDCNCLYPKAIPSSDPASVSPHQPLAPSMAPVAGLTWED
SEGTEGSSLLPGEQPLHTVDPGSAKQRPPRSTCQSFEPPETPVVKDSTIGGSPQPRPSVGAFNPGMEDILDSAMG
TNWVPEEASGEASEIPVPQGTELSPSRPGGGSMQTEPARPSNFLSASSPLPASAKGQQPADVTGTALPRVGPVRP
TGQDWNHTPQKTDHPSALLRDPPEPGSPRISSLRPQGLSNPSTLSAQPQLSRSHSSGSVLPLGELEGRRSTRDRR
SPAEPEGGPASEGAARPLPRFNSVPLTDTGHERQSEGSFSPQLQESVFHLLVPSVILVLLAVGGLLFYRWRRRSH
QEPQRADSPLEQPEGSPLTQDDRQVELPV
Structural information
Interpro:  IPR009079 IPR008001

Pfam:  
PF05337

PDB:  
1HMC 3UEZ 3UF2 4ADF 4FA8 4WRL 4WRM
PDBsum:   1HMC 3UEZ 3UF2 4ADF 4FA8 4WRL 4WRM

DIP:  
41860
MINT:   196477
STRING:   ENSP00000327513;
Other Databases GeneCards:  CSF1;  Malacards:  CSF1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001503 ossification
IEA biological_process
GO:0001954 positive regulation of ce
ll-matrix adhesion
ISS biological_process
GO:0002158 osteoclast proliferation
IEA biological_process
GO:0003006 developmental process inv
olved in reproduction
ISS biological_process
GO:0005125 cytokine activity
IDA molecular_function
GO:0005125 cytokine activity
IDA molecular_function
GO:0005157 macrophage colony-stimula
ting factor receptor bind
ing
ISS molecular_function
GO:0005157 macrophage colony-stimula
ting factor receptor bind
ing
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006954 inflammatory response
IEA biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
IDA biological_process
GO:0008083 growth factor activity
NAS molecular_function
GO:0008083 growth factor activity
IDA molecular_function
GO:0008283 cell proliferation
NAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010743 regulation of macrophage
derived foam cell differe
ntiation
NAS biological_process
GO:0010744 positive regulation of ma
crophage derived foam cel
l differentiation
IDA biological_process
GO:0010759 positive regulation of ma
crophage chemotaxis
IDA biological_process
GO:0016020 membrane
NAS cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0030097 hemopoiesis
NAS biological_process
GO:0030154 cell differentiation
NAS biological_process
GO:0030225 macrophage differentiatio
n
TAS biological_process
GO:0030278 regulation of ossificatio
n
IEA biological_process
GO:0030316 osteoclast differentiatio
n
IDA biological_process
GO:0030335 positive regulation of ce
ll migration
ISS biological_process
GO:0032270 positive regulation of ce
llular protein metabolic
process
IDA biological_process
GO:0032946 positive regulation of mo
nonuclear cell proliferat
ion
IDA biological_process
GO:0038145 macrophage colony-stimula
ting factor signaling pat
hway
IEA biological_process
GO:0040018 positive regulation of mu
lticellular organism grow
th
IEA biological_process
GO:0042117 monocyte activation
NAS biological_process
GO:0042476 odontogenesis
IEA biological_process
GO:0042488 positive regulation of od
ontogenesis of dentin-con
taining tooth
IEA biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0045087 innate immune response
IEA biological_process
GO:0045651 positive regulation of ma
crophage differentiation
IDA biological_process
GO:0045657 positive regulation of mo
nocyte differentiation
ISS biological_process
GO:0045672 positive regulation of os
teoclast differentiation
IDA biological_process
GO:0045860 positive regulation of pr
otein kinase activity
ISS biological_process
GO:0046579 positive regulation of Ra
s protein signal transduc
tion
IEA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0048873 homeostasis of number of
cells within a tissue
IEA biological_process
GO:0060444 branching involved in mam
mary gland duct morphogen
esis
IEA biological_process
GO:0060611 mammary gland fat develop
ment
IEA biological_process
GO:0060763 mammary duct terminal end
bud growth
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:1902228 positive regulation of ma
crophage colony-stimulati
ng factor signaling pathw
ay
IDA biological_process
GO:1904141 positive regulation of mi
croglial cell migration
IDA biological_process
GO:1990682 CSF1-CSF1R complex
ISS cellular_component
GO:0001503 ossification
IEA biological_process
GO:0001954 positive regulation of ce
ll-matrix adhesion
IEA biological_process
GO:0001954 positive regulation of ce
ll-matrix adhesion
ISS biological_process
GO:0002158 osteoclast proliferation
IEA biological_process
GO:0002376 immune system process
IEA biological_process
GO:0003006 developmental process inv
olved in reproduction
IEA biological_process
GO:0003006 developmental process inv
olved in reproduction
ISS biological_process
GO:0005125 cytokine activity
IEA molecular_function
GO:0005125 cytokine activity
IEA molecular_function
GO:0005125 cytokine activity
IDA molecular_function
GO:0005125 cytokine activity
IDA molecular_function
GO:0005157 macrophage colony-stimula
ting factor receptor bind
ing
IEA molecular_function
GO:0005157 macrophage colony-stimula
ting factor receptor bind
ing
ISS molecular_function
GO:0005157 macrophage colony-stimula
ting factor receptor bind
ing
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006954 inflammatory response
IEA biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
IDA biological_process
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
NAS molecular_function
GO:0008083 growth factor activity
IDA molecular_function
GO:0008283 cell proliferation
IEA biological_process
GO:0008283 cell proliferation
NAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010743 regulation of macrophage
derived foam cell differe
ntiation
NAS biological_process
GO:0010744 positive regulation of ma
crophage derived foam cel
l differentiation
IDA biological_process
GO:0010759 positive regulation of ma
crophage chemotaxis
IDA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
NAS cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0030097 hemopoiesis
NAS biological_process
GO:0030154 cell differentiation
NAS biological_process
GO:0030225 macrophage differentiatio
n
IEA biological_process
GO:0030225 macrophage differentiatio
n
TAS biological_process
GO:0030278 regulation of ossificatio
n
IEA biological_process
GO:0030316 osteoclast differentiatio
n
IEA biological_process
GO:0030316 osteoclast differentiatio
n
IDA biological_process
GO:0030335 positive regulation of ce
ll migration
IEA biological_process
GO:0030335 positive regulation of ce
ll migration
ISS biological_process
GO:0032270 positive regulation of ce
llular protein metabolic
process
IDA biological_process
GO:0032946 positive regulation of mo
nonuclear cell proliferat
ion
IDA biological_process
GO:0038145 macrophage colony-stimula
ting factor signaling pat
hway
IEA biological_process
GO:0040018 positive regulation of mu
lticellular organism grow
th
IEA biological_process
GO:0042117 monocyte activation
NAS biological_process
GO:0042476 odontogenesis
IEA biological_process
GO:0042488 positive regulation of od
ontogenesis of dentin-con
taining tooth
IEA biological_process
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0045087 innate immune response
IEA biological_process
GO:0045651 positive regulation of ma
crophage differentiation
IEA biological_process
GO:0045651 positive regulation of ma
crophage differentiation
IDA biological_process
GO:0045657 positive regulation of mo
nocyte differentiation
IEA biological_process
GO:0045657 positive regulation of mo
nocyte differentiation
ISS biological_process
GO:0045672 positive regulation of os
teoclast differentiation
IEA biological_process
GO:0045672 positive regulation of os
teoclast differentiation
IDA biological_process
GO:0045860 positive regulation of pr
otein kinase activity
IEA biological_process
GO:0045860 positive regulation of pr
otein kinase activity
ISS biological_process
GO:0046579 positive regulation of Ra
s protein signal transduc
tion
IEA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0048873 homeostasis of number of
cells within a tissue
IEA biological_process
GO:0060444 branching involved in mam
mary gland duct morphogen
esis
IEA biological_process
GO:0060611 mammary gland fat develop
ment
IEA biological_process
GO:0060763 mammary duct terminal end
bud growth
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:1902228 positive regulation of ma
crophage colony-stimulati
ng factor signaling pathw
ay
IDA biological_process
GO:1904141 positive regulation of mi
croglial cell migration
IDA biological_process
GO:1990682 CSF1-CSF1R complex
IEA cellular_component
GO:1990682 CSF1-CSF1R complex
ISS cellular_component
GO:0001954 positive regulation of ce
ll-matrix adhesion
ISS biological_process
GO:0003006 developmental process inv
olved in reproduction
ISS biological_process
GO:0005125 cytokine activity
IDA molecular_function
GO:0005125 cytokine activity
IDA molecular_function
GO:0005157 macrophage colony-stimula
ting factor receptor bind
ing
ISS molecular_function
GO:0005157 macrophage colony-stimula
ting factor receptor bind
ing
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
IDA biological_process
GO:0008083 growth factor activity
NAS molecular_function
GO:0008083 growth factor activity
IDA molecular_function
GO:0008283 cell proliferation
NAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010743 regulation of macrophage
derived foam cell differe
ntiation
NAS biological_process
GO:0010744 positive regulation of ma
crophage derived foam cel
l differentiation
IDA biological_process
GO:0010759 positive regulation of ma
crophage chemotaxis
IDA biological_process
GO:0016020 membrane
NAS cellular_component
GO:0030097 hemopoiesis
NAS biological_process
GO:0030154 cell differentiation
NAS biological_process
GO:0030225 macrophage differentiatio
n
TAS biological_process
GO:0030316 osteoclast differentiatio
n
IDA biological_process
GO:0030335 positive regulation of ce
ll migration
ISS biological_process
GO:0032270 positive regulation of ce
llular protein metabolic
process
IDA biological_process
GO:0032946 positive regulation of mo
nonuclear cell proliferat
ion
IDA biological_process
GO:0042117 monocyte activation
NAS biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0045651 positive regulation of ma
crophage differentiation
IDA biological_process
GO:0045657 positive regulation of mo
nocyte differentiation
ISS biological_process
GO:0045672 positive regulation of os
teoclast differentiation
IDA biological_process
GO:0045860 positive regulation of pr
otein kinase activity
ISS biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:1902228 positive regulation of ma
crophage colony-stimulati
ng factor signaling pathw
ay
IDA biological_process
GO:1904141 positive regulation of mi
croglial cell migration
IDA biological_process
GO:1990682 CSF1-CSF1R complex
ISS cellular_component

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa04668  TNF signaling pathway
hsa04380  Osteoclast differentiation
hsa05323  Rheumatoid arthritis
hsa04640  Hematopoietic cell lineage

Diseases

Associated diseases References
Alzheimer's disease PMID: 17192722
Cancer PMID: 17355643
Endometrial cancer PMID: 9815987
Endometriosis PMID: 22365076
Female infertility PMID: 9410394
Follicular development PMID: 18996518
Male infertility PMID: 8554432
Periodontitis PMID: 16844084
Polycystic ovary syndrome (PCOS) PMID: 16997933
Endometriosis associated infertility INFBASE8073433
Endometriosis INFBASE8073433

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22365076 Endometrio
sis


CSF-1
C-FMS
Show abstract
21481374 Endometrio
sis


CSF-1
Show abstract
8073433 Endometrio
sis

44 infertile pa
tients
Female infertility M-CSF
Show abstract