CSF1R (colony stimulating factor 1 receptor)

基因基本信息

基因基本信息

symbol:
CSF1R
locus group:
protein-coding gene
location:
5q32
gene_family:
Receptor Tyrosine Kinases|CD molecules|Immunoglobulin-like domain containing
alias symbol:
C-FMS|CSFR|CD115
alias name:
None
entrez id:
1436
ensembl gene id:
ENSG00000182578
ucsc gene id:
uc003lrm.3
refseq accession:
NM_005211
hgnc_id:
HGNC:2433
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

5q32

基因简述

基因简述

CSF1R（集落刺激因子1受体）基因编码一种属于III型受体酪氨酸激酶家族的跨膜蛋白，是集落刺激因子1（CSF1）和白细胞介素34（IL-34）的受体。该基因主要在单核细胞、巨噬细胞、小胶质细胞和破骨细胞等髓系细胞中表达，对单核-巨噬细胞谱系的发育、存活、增殖和分化至关重要。CSF1R通过激活下游信号通路（如PI3K/AKT、MAPK和JAK/STAT）调控免疫功能和炎症反应。该基因突变会导致常染色体显性遗传病ALSP（成人起病的白质脑病伴轴索球样变和色素胶质细胞病），表现为进行性神经退行性症状。CSF1R还参与多种疾病过程，如肿瘤（通过促进肿瘤相关巨噬细胞浸润）、骨质疏松（影响破骨细胞功能）和炎症性疾病。过表达CSF1R可能促进肿瘤微环境中免疫抑制性巨噬细胞的积累，而表达降低则会导致单核/巨噬细胞减少，引发免疫功能缺陷。CSF1R属于PDGFR（血小板衍生生长因子受体）家族，该家族成员都具有5个免疫球蛋白样结构域的胞外区、单次跨膜区和分裂的酪氨酸激酶结构域，通过配体诱导的二聚化激活下游信号。针对CSF1R的抑制剂（如pexidartinib）已被开发用于治疗腱鞘巨细胞瘤等疾病。

中文English

由该基因编码的蛋白质是集落刺激因子1，其控制生产，分化，和巨噬细胞功能的细胞因子的受体。如果不是所有的这种细胞因子的生物效应该受体介导大多数。配体结合通过低聚和磷酸转移的过程激活受体激酶。所编码的蛋白质是CSF1 / PDGF受体家族酪氨酸蛋白激酶的酪氨酸激酶跨膜受体和构件。在这种基因突变已与易感性骨髓恶性肿瘤相关。该基因的第一个内含子包含在相反方向上定向的无转录活性的核糖体蛋白L7加工型假。选择性剪接结果在多个抄本变形。 [由RefSeq的，2013年12月提供]

OMIM数据库中对CSF1R基因的介绍     Wikipedia数据库中对CSF1R基因的介绍

基因序列

基因序列

CSF1R基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MGPGVLLLLL VATAWHGQGI PVIEPSVPEL VVKPGATVTL
41RCVGNGSVEW DGPPSPHWTL YSDGSSSILS TNNATFQNTG
81 TYRCTEPGD PLGGSAAIHL YVKDPARPWN VLAQEVVVFE
121DQDALLPCLL TDPVLEAGVS LVRVRGRPLM RHTNYSFSPW
161H GFTIHRAK FIQSQDYQCS ALMGGRKVMS ISIRLKVQKV
201IPGPPALTLV PAELVRIRGE AAQIVCSASS VDVNFDVFLQ
241HN NTKLAIP QQSDFHNNRY QKVLTLNLDQ VDFQHAGNYS
281CVASNVQGKH STSMFFRVVE SAYLNLSSEQ NLIQEVTVGE
321GLN LKVMVE AYPGLQGFNW TYLGPFSDHQ PEPKLANATT
361KDTYRHTFTL SLPRLKPSEA GRYSFLARNP GGWRALTFEL
401TLRY PPEVS VIWTFINGSG TLLCAASGYP QPNVTWLQCS
441GHTDRCDEAQ VLQVWDDPYP EVLSQEPFHK VTVQSLLTVE
481TLEHN QTYE CRAHNSVGSG SWAFIPISAG AHTHPPDEFL
521FTPVVVACMS IMALLLLLLL LLLYKYKQKP KYQVRWKIIE
561SYEGNS YTF IDPTQLPYNE KWEFPRNNLQ FGKTLGAGAF
601GKVVEATAFG LGKEDAVLKV AVKMLKSTAH ADEKEALMSE
641LKIMSHL GQ HENIVNLLGA CTHGGPVLVI TEYCCYGDLL
681NFLRRKAEAM LGPSLSPGQD PEGGVDYKNI HLEKKYVRRD
721SGFSSQGV D TYVEMRPVST SSNDSFSEQD LDKEDGRPLE
761LRDLLHFSSQ VAQGMAFLAS KNCIHRDVAA RNVLLTNGHV
801AKIGDFGLA RDIMNDSNYI VKGNARLPVK WMAPESIFDC
841VYTVQSDVWS YGILLWEIFS LGLNPYPGIL VNSKFYKLVK
881DGYQMAQPAF APKNIYSIM QACWALEPTH RPTFQQICSF
921LQEQAQEDRR ERDYTNLPSS SRSGGSGSSS SELEEESSSE
961HLTCCEQGDI A QPLLQPNN YQFC
结构预测来自 AlphaFold DB（UniProt: P07333），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

CSF1R基因的碱基突变：           仅显示部分snp
rs6674       rs9727       rs12238       rs12500       rs13117       rs114792       rs170037       rs216123       rs216124       rs216136       rs216137       rs216138       rs216139       rs216140       rs216141       rs216142       rs216143      

基因表达

基因表达

CSF1R基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
GAAGATGCTGAAGTCCACG
59
GGTTGACGATGTTCTCGTG
59
AGCTGAAGATCATGAGCCA
59
TCAAGAGATGCCTCCATGG
59
CTATGTCAAAGACCCTGCC
58
GAAGGAGTAGTTGGTGTGG
58
AGATACAGCATCATGCAGG
57
TTGGTATAGTCCCGCTCTC
58
GTGAAGATGCTGAAGTCCAC
59
TTGACGATGTTCTCGTGCT
60
TATGTCAAAGACCCTGCCC
59
AGAAGGAGTAGTTGGTGTGG
59
GCTGAAGATCATGAGCCAC
59
TCAAGAGATGCCTCCATGG
59
GATACAGCATCATGCAGGC
59
ATTGGTATAGTCCCGCTCTC
59
GAAGATGCTGAAGTCCACG
59
GTTGACGATGTTCTCGTGC
60
CTGAAGATCATGAGCCACCT
60
TCAAGAGATGCCTCCATGG
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
NR3C1
CSF1R
Unknown
11891846
RUNX1
CSF1R
Unknown
8585955; 9209363

基因本体信息

CSF1R基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

CSF1R基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004714
E9PEK4 (UniProtKB)
IEA
GO:0005524
E9PEK4 (UniProtKB)
IEA
GO:0007169
E9PEK4 (UniProtKB)
IEA
GO:0016021
E9PEK4 (UniProtKB)
IEA
GO:0018108
E9PEK4 (UniProtKB)
IEA
GO:0019221
E9PEK4 (UniProtKB)
IEA
GO:0019955
E9PEK4 (UniProtKB)
IEA
GO:0004714
H0YAL5 (UniProtKB)
IEA
GO:0005524
H0YAL5 (UniProtKB)
IEA
GO:0007169
H0YAL5 (UniProtKB)
IEA
GO:0016020
H0YAL5 (UniProtKB)
IEA
GO:0018108
H0YAL5 (UniProtKB)
IEA
GO:0019221
H0YAL5 (UniProtKB)
IEA
GO:0019955
H0YAL5 (UniProtKB)
IEA
GO:0001934
P07333 (UniProtKB)
IMP
GO:0005011
P07333 (UniProtKB)
ISS
GO:0005011
P07333 (UniProtKB)
IMP
GO:0005011
P07333 (UniProtKB)
IMP
GO:0005524
P07333 (UniProtKB)
IEA
GO:0005622
P07333 (UniProtKB)
IEA
GO:0005886
P07333 (UniProtKB)
TAS
GO:0005887
P07333 (UniProtKB)
TAS
GO:0006954
P07333 (UniProtKB)
TAS
GO:0007165
P07333 (UniProtKB)
TAS
GO:0007169
P07333 (UniProtKB)
ISS
GO:0007275
P07333 (UniProtKB)
TAS
GO:0007411
P07333 (UniProtKB)
IEA
GO:0007519
P07333 (UniProtKB)
IEA
GO:0008283
P07333 (UniProtKB)
IMP
GO:0008284
P07333 (UniProtKB)
IMP
GO:0008284
P07333 (UniProtKB)
IMP
GO:0008285
P07333 (UniProtKB)
IEA
GO:0008360
P07333 (UniProtKB)
IMP
GO:0009986
P07333 (UniProtKB)
ISS
GO:0018108
P07333 (UniProtKB)
IDA
GO:0019221
P07333 (UniProtKB)
IMP
GO:0019903
P07333 (UniProtKB)
IEA
GO:0019955
P07333 (UniProtKB)
ISS
GO:0019955
P07333 (UniProtKB)
IDA
GO:0021772
P07333 (UniProtKB)
IEA
GO:0021879
P07333 (UniProtKB)
IEA
GO:0030097
P07333 (UniProtKB)
IMP
GO:0030224
P07333 (UniProtKB)
TAS
GO:0030225
P07333 (UniProtKB)
TAS
GO:0030316
P07333 (UniProtKB)
ISS
GO:0030335
P07333 (UniProtKB)
ISS
GO:0031529
P07333 (UniProtKB)
ISS
GO:0036006
P07333 (UniProtKB)
IMP
GO:0036006
P07333 (UniProtKB)
IMP
GO:0038145
P07333 (UniProtKB)
ISS
GO:0042517
P07333 (UniProtKB)
ISS
GO:0042803
P07333 (UniProtKB)
ISS
GO:0043066
P07333 (UniProtKB)
IEA
GO:0045087
P07333 (UniProtKB)
IEA
GO:0045124
P07333 (UniProtKB)
ISS
GO:0045217
P07333 (UniProtKB)
IMP
GO:0045672
P07333 (UniProtKB)
IEA
GO:0046488
P07333 (UniProtKB)
ISS
GO:0046777
P07333 (UniProtKB)
IDA
GO:0048015
P07333 (UniProtKB)
ISS
GO:0060603
P07333 (UniProtKB)
TAS
GO:0061098
P07333 (UniProtKB)
IMP
GO:0070374
P07333 (UniProtKB)
ISS
GO:0071345
P07333 (UniProtKB)
ISS
GO:0071902
P07333 (UniProtKB)
ISS
GO:0090197
P07333 (UniProtKB)
IMP
GO:1990682
P07333 (UniProtKB)
ISS
GO:2000147
P07333 (UniProtKB)
IMP
GO:2000249
P07333 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 CSF1R基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
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关联基因 作用方式 资源库来源/分值

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Hereditary Diffuse Leukoencephalopathy with Spheroids 0.244614512 17 2 BeFree_ORPHANET_UNIPROT
Leukemia, Myelocytic, Acute 0.136306375 43 0 BeFree_CTD_human_LHGDN
Neoplasm Metastasis 0.124353001 8 0 BeFree_CTD_human_LHGDN
Mammary Neoplasms 0.122995792 3 0 BeFree_CTD_human_LHGDN
Leukoencephalopathies 0.121357209 6 0 BeFree_CTD_human
IGA Glomerulonephritis 0.12 1 0 CTD_human
Anti-Glomerular Basement Membrane Disease 0.08 1 0 RGD
MYELODYSPLASTIC SYNDROME 0.00554839 4 0 BeFree_GAD
Malignant neoplasm of breast 0.004071628 15 0 BeFree
Breast Carcinoma 0.003800186 14 0 BeFree

基因相关文献

基因相关文献

Tumor-immune-neural circuit disrupts energy homeostasis in cancer cachexia.
Shi X, Arreola AX, Zhou Z, Yang J, Liu M, Cai Y, Ren Y, Yuan H, Chen Q, Chen X, Yang X, Meng Y, Wang J, Luo W, Rudolph MC, Varshney R, Fung KM, Xu C, Chen WR, Bronze MS, Zheng L, Li YP, Houchen CW, Zhang Y, Li M Cancer Cell IF: 56.1 2026-05-11
Temporal modulation of microglial repopulation attenuates retinal degeneration in retinitis pigmentosa.
Zhang W, Bian B, Ren C, Chen M, Fang Y, Zhou Y, Zhang H, Li B, Liu H, Zhang X, Liu Y, Jiang J Neurobiol Dis IF: 6.0 2026-04-00
Systemic CSF1R Targeting Depletes Pathogenic MPS Bubs and Ameliorates Psoriasis via PPARα-mediated Resolution.
Lin ZJ, Li Y, Yu Y, Fang MJ, Xiong Y, Xu R, Wang Z, Zhang J, Xu YN, Wan JY, Ji X, Zheng YF, Zhang KL, Wei M, Zou JT, Jia LX, Zhang H, Li CL, Zhou LJ, Tan Z Theranostics IF: 14.9 None
More than microglial depletion: PLX5622 activates the hepatic constitutive androstane receptor to alter anesthesia and addiction.
Cao K, Cheng W, Qiu L, Wang Z, Zhao Y, Yuan Y, Wu W, Xue J, Zeng L, Wu ZY, Ma H, Hou T, Hume DA, Ye C, Duan S, Gao Z Neuron IF: 16.9 2026-04-15
Colony-stimulating factor 1 receptor inhibition is neuroprotective to photoreceptors in retinal detachment.
Pastor-Puente S, Jung R, Gonzalez-Buendia L, Paschalis EI, Vavvas DG, Kazlauskas A, Maidana DE Cell Death Dis IF: 12.2 2026-02-26
CSF1R inhibitor C19 for glioma immunotherapy enabled by brain-targeting liposomal delivery.
Song WQ, Wu YQ, Zhu QF, Xia XP, Wang R, Yang L, Hu LH, Wang JW, Huang YZ, Wang HY Acta Pharmacol Sin IF: 10.4 2026-06-00
Embryonic and postnatal macrophages are necessary for proper tooth development and homeostasis.
Gonzalez Lopez M, Katsura KA, Neves VCM, Soldatov R, Lavicky J, Azam M, Kavkova M, Cigosova K, Temsamrit B, Bonnardel J, Gong H, Nemec KM, Bennett FC, Tuaima H, Yianni V, Sharpe PT, Bajenoff M, Kharchenko P, Bennett ML, Adameyko I, Krivanek J Nat Commun IF: 12.124 2026-07-17

基因相关服务

基因相关服务

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