FGFR1 (fibroblast growth factor receptor 1)

基因基本信息

基因基本信息

symbol:
FGFR1
locus group:
protein-coding gene
location:
8p11.23
gene_family:
Receptor Tyrosine Kinases|CD molecules|I-set domain containing
alias symbol:
H2|H3|H4|H5|CEK|FLG|BFGFR|N-SAM|CD331
alias name:
Pfeiffer syndrome
entrez id:
2260
ensembl gene id:
ENSG00000077782
ucsc gene id:
uc064mbw.1
refseq accession:
NM_001174063
hgnc_id:
HGNC:3688
approved reserved:
1992-02-25

基因染色体位置

基因染色体位置

8p11.23
基因染色体位置图

基因简述

基因简述

FGFR1（成纤维细胞生长因子受体1）属于FGFR基因家族，该家族包括FGFR1、FGFR2、FGFR3和FGFR4四个成员，它们编码的蛋白质都是跨膜酪氨酸激酶受体，通过与成纤维细胞生长因子（FGFs）结合激活下游信号通路，调控细胞增殖、分化、迁移和存活等生物学过程。FGFR1在胚胎发育、血管生成、骨骼形成和神经系统发育中发挥关键作用。FGFR1蛋白由胞外配体结合域、跨膜区和胞内酪氨酸激酶域组成，主要通过与FGF配体结合后发生二聚化并自磷酸化，激活MAPK、PI3K-AKT和STAT等信号通路。FGFR1的突变可能导致其功能异常，例如激酶域的点突变（如N546K、K656E）会导致受体持续激活，与多种疾病相关，包括骨骼发育异常（如Pfeiffer综合征）、癌症（如乳腺癌、肺癌和白血病）以及内分泌疾病（如Kallmann综合征）。FGFR1过表达会促进细胞增殖和肿瘤发生，尤其在乳腺癌和胶质母细胞瘤中常见，可能导致治疗耐药性；而FGFR1表达降低则可能影响组织修复和血管生成，导致发育缺陷或伤口愈合延迟。FGFR1的异常表达还会影响其他基因，如上调MMP（基质金属蛋白酶）促进肿瘤转移，或干扰其他FGFR家族成员的功能。FGFR基因家族的共性在于它们均通过相似的机制传递FGF信号，但各成员在组织分布和功能上存在差异，例如FGFR1和FGFR2更多参与骨骼发育，而FGFR3与软骨发育密切相关。针对FGFR1的靶向药物（如厄达替尼）已用于治疗携带FGFR突变的癌症，但需注意耐药性和副作用问题。

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是成纤维细胞生长因子受体（FGFR）家族，其中氨基酸序列是高度部件之间并在整个进化保守的成员。 FGFR家族成员在他们的配体的亲和力和组织分布彼此不同。全长代表蛋白由一个细胞外区的，三个免疫球蛋白样结构域，单个疏水跨膜片段和细胞质酪氨酸激酶结构域组成。该蛋白质的细胞外部分与成纤维细胞生长因子相互作用，在运动的下行信号的级联设置，最终影响有丝分裂和分化。这个特定的家族成员结合酸性和碱性成纤维细胞生长因子，是参与肢感应。在这种基因突变与菲佛综合征，杰克逊 - 威斯综合征，安特利 - 比克斯勒症候群，osteoglophonic发育不良，和常染色体涉及该基因与干细胞骨髓增生性病症相关的和干细胞白血病淋巴瘤综合征主导卡尔曼综合征2.染色体畸变相关联。可变剪接变体，其编码不同蛋白同种型已被描述;然而，并非所有的变体已被充分表征。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

FGFR1基因的碱基突变：           仅显示部分snp
rs3925       rs13317       rs328304       rs328305       rs328306       rs328307       rs930828       rs1046400       rs1126485       rs1803197       rs1971106       rs2280846       rs2288696       rs2293971       rs2304000       rs2411256       rs2411257      

基因表达

基因表达

FGFR1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
CTCCAAGAAGTGCATACACC
58
CCAAAGTCTGCTATCTTCATCAC
59
ATTGGAGGCTACAAGGTCC
59
AGGTGTAGTTGCCCTTGTC
59
CCTGAACAAGATGCTCTCC
57
GGTGTTATCTGTTTCTTTCTCC
57
CAGATCTTGAAGCATTCGGG
59
AGACTGGTTAGCTTCACCA
58
TAATCCCAGCACTTTGGGAG
59
CAAACTGACCCATGTTGTCC
59
TAACGGCTACAGATGTGCC
59
TGCTAAACAGTCTCAAGGCT
59
GTAATCCCAGCACTTTGGG
58
GTCTCAAACTCCTGACCTG
57
TGCATCCATGAACTCTGGG
59
CCTAAGACCAGTCTGTCCC
58
CAGTGGCTAAAGCACATCG
59
TCCAGCAGTCTTCAAGATCTG
59
GAAGTGCCTCCTCTTCTGG
59
GGAAGGACTCCACTTCCAC
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）
E2F1
FGFR1
Activation
19303924
KLF10
FGFR1
Repression
23569208
RB1
FGFR1
Repression
19303924
SP1
FGFR1
Unknown
23569208

基因本体信息

FGFR1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

FGFR1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005007
B5A958 (UniProtKB)
IEA
GO:0008543
B5A958 (UniProtKB)
IEA
GO:0005007
C1KBH7 (UniProtKB)
IEA
GO:0008543
C1KBH7 (UniProtKB)
IEA
GO:0005007
C9J205 (UniProtKB)
IEA
GO:0008543
C9J205 (UniProtKB)
IEA
GO:0005007
E7EU09 (UniProtKB)
IEA
GO:0005524
E7EU09 (UniProtKB)
IEA
GO:0008284
E7EU09 (UniProtKB)
IEA
GO:0008543
E7EU09 (UniProtKB)
IEA
GO:0016021
E7EU09 (UniProtKB)
IEA
GO:0018108
E7EU09 (UniProtKB)
IEA
GO:0018108
E7EU09 (UniProtKB)
IEA
GO:0005007
E9PKF2 (UniProtKB)
IEA
GO:0008543
E9PKF2 (UniProtKB)
IEA
GO:0005007
E9PKV7 (UniProtKB)
IEA
GO:0008543
E9PKV7 (UniProtKB)
IEA
GO:0005007
E9PN14 (UniProtKB)
IEA
GO:0008543
E9PN14 (UniProtKB)
IEA
GO:0005007
E9PNM3 (UniProtKB)
IEA
GO:0008543
E9PNM3 (UniProtKB)
IEA
GO:0005007
E9PQ40 (UniProtKB)
IEA
GO:0008543
E9PQ40 (UniProtKB)
IEA
GO:0005007
H0YE20 (UniProtKB)
IEA
GO:0005524
H0YE20 (UniProtKB)
IEA
GO:0008543
H0YE20 (UniProtKB)
IEA
GO:0018108
H0YE20 (UniProtKB)
IEA
GO:0000122
P11362 (UniProtKB)
IEA
GO:0000165
P11362 (UniProtKB)
TAS
GO:0001501
P11362 (UniProtKB)
TAS
GO:0001525
P11362 (UniProtKB)
IEA
GO:0001657
P11362 (UniProtKB)
IEA
GO:0001701
P11362 (UniProtKB)
IEA
GO:0001759
P11362 (UniProtKB)
IEA
GO:0001764
P11362 (UniProtKB)
TAS
GO:0001948
P11362 (UniProtKB)
IEA
GO:0002053
P11362 (UniProtKB)
IEA
GO:0002053
P11362 (UniProtKB)
IEA
GO:0002062
P11362 (UniProtKB)
IEA
GO:0004713
P11362 (UniProtKB)
IDA
GO:0004713
P11362 (UniProtKB)
TAS
GO:0004713
P11362 (UniProtKB)
TAS
GO:0004713
P11362 (UniProtKB)
TAS
GO:0004713
P11362 (UniProtKB)
TAS
GO:0005007
P11362 (UniProtKB)
IDA
GO:0005007
P11362 (UniProtKB)
IDA
GO:0005007
P11362 (UniProtKB)
TAS
GO:0005088
P11362 (UniProtKB)
TAS
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005515
P11362 (UniProtKB)
IPI
GO:0005524
P11362 (UniProtKB)
IEA
GO:0005576
P11362 (UniProtKB)
NAS
GO:0005634
P11362 (UniProtKB)
IEA
GO:0005829
P11362 (UniProtKB)
IEA
GO:0005886
P11362 (UniProtKB)
IDA
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005886
P11362 (UniProtKB)
TAS
GO:0005887
P11362 (UniProtKB)
TAS
GO:0006351
P11362 (UniProtKB)
IEA
GO:0006468
P11362 (UniProtKB)
NAS
GO:0006468
P11362 (UniProtKB)
NAS
GO:0007605
P11362 (UniProtKB)
IEA
GO:0008201
P11362 (UniProtKB)
IDA
GO:0008284
P11362 (UniProtKB)
IMP
GO:0008284
P11362 (UniProtKB)
IDA
GO:0008284
P11362 (UniProtKB)
IGI
GO:0008284
P11362 (UniProtKB)
IGI
GO:0008284
P11362 (UniProtKB)
IGI
GO:0008284
P11362 (UniProtKB)
IGI
GO:0008284
P11362 (UniProtKB)
IGI
GO:0008284
P11362 (UniProtKB)
IGI
GO:0008543
P11362 (UniProtKB)
IPI
GO:0008543
P11362 (UniProtKB)
IDA
GO:0008543
P11362 (UniProtKB)
IGI
GO:0008543
P11362 (UniProtKB)
IGI
GO:0008543
P11362 (UniProtKB)
IGI
GO:0008543
P11362 (UniProtKB)
IGI
GO:0008543
P11362 (UniProtKB)
IGI
GO:0008543
P11362 (UniProtKB)
IGI
GO:0008543
P11362 (UniProtKB)
TAS
GO:0008543
P11362 (UniProtKB)
TAS
GO:0008543
P11362 (UniProtKB)
TAS
GO:0008543
P11362 (UniProtKB)
TAS
GO:0010518
P11362 (UniProtKB)
TAS
GO:0010863
P11362 (UniProtKB)
IDA
GO:0010976
P11362 (UniProtKB)
IEA
GO:0010976
P11362 (UniProtKB)
IEA
GO:0014066
P11362 (UniProtKB)
TAS
GO:0014068
P11362 (UniProtKB)
TAS
GO:0016021
P11362 (UniProtKB)
NAS
GO:0016021
P11362 (UniProtKB)
NAS
GO:0016021
P11362 (UniProtKB)
NAS
GO:0016023
P11362 (UniProtKB)
IEA
GO:0016303
P11362 (UniProtKB)
TAS
GO:0016477
P11362 (UniProtKB)
TAS
GO:0017134
P11362 (UniProtKB)
IDA
GO:0017134
P11362 (UniProtKB)
IDA
GO:0018108
P11362 (UniProtKB)
IDA
GO:0018108
P11362 (UniProtKB)
IDA
GO:0019827
P11362 (UniProtKB)
IEA
GO:0021837
P11362 (UniProtKB)
IEA
GO:0021847
P11362 (UniProtKB)
IEA
GO:0030326
P11362 (UniProtKB)
IEA
GO:0030901
P11362 (UniProtKB)
IEA
GO:0031175
P11362 (UniProtKB)
IEA
GO:0032403
P11362 (UniProtKB)
IEA
GO:0035607
P11362 (UniProtKB)
IEA
GO:0036092
P11362 (UniProtKB)
IEA
GO:0042472
P11362 (UniProtKB)
IEA
GO:0042473
P11362 (UniProtKB)
IEA
GO:0042474
P11362 (UniProtKB)
IEA
GO:0042802
P11362 (UniProtKB)
IPI
GO:0042803
P11362 (UniProtKB)
IPI
GO:0043009
P11362 (UniProtKB)
TAS
GO:0043235
P11362 (UniProtKB)
IDA
GO:0043406
P11362 (UniProtKB)
IDA
GO:0043406
P11362 (UniProtKB)
IDA
GO:0043410
P11362 (UniProtKB)
IMP
GO:0043547
P11362 (UniProtKB)
IEA
GO:0045595
P11362 (UniProtKB)
TAS
GO:0045666
P11362 (UniProtKB)
IMP
GO:0045668
P11362 (UniProtKB)
IEA
GO:0045787
P11362 (UniProtKB)
IEA
GO:0046777
P11362 (UniProtKB)
IDA
GO:0046854
P11362 (UniProtKB)
IEA
GO:0046934
P11362 (UniProtKB)
TAS
GO:0048015
P11362 (UniProtKB)
TAS
GO:0048015
P11362 (UniProtKB)
TAS
GO:0048339
P11362 (UniProtKB)
IEA
GO:0048378
P11362 (UniProtKB)
IEA
GO:0048469
P11362 (UniProtKB)
IEA
GO:0048705
P11362 (UniProtKB)
TAS
GO:0048762
P11362 (UniProtKB)
IEA
GO:0050839
P11362 (UniProtKB)
IEA
GO:0051930
P11362 (UniProtKB)
IEA
GO:0060045
P11362 (UniProtKB)
IEA
GO:0060117
P11362 (UniProtKB)
IEA
GO:0060445
P11362 (UniProtKB)
IEA
GO:0060484
P11362 (UniProtKB)
IEA
GO:0060665
P11362 (UniProtKB)
IEA
GO:0090080
P11362 (UniProtKB)
IEA
GO:2000546
P11362 (UniProtKB)
IDA
GO:2001239
P11362 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 FGFR1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

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
Osteoglophonic dwarfism 0.480271442 1 3 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 0.360542884 2 3 BeFree_CLINVAR_ORPHANET_UNIPROT
Interfrontal craniofaciosynostosis 0.360271442 2 1 BeFree_CLINVAR_CTD_human_UNIPROT
Kallmann Syndrome 0.262950464 39 1 BeFree_CTD_human_GAD_LHGDN_ORPHANET
Kallmann Syndrome 2 (disorder) 0.240542884 14 16 BeFree_CLINVAR_UNIPROT
JACKSON-WEISS SYNDROME 0.24 0 1 CLINVAR_CTD_human
Pfeiffer Syndrome 0.20434307 16 2 BeFree_MGD_UNIPROT
Myeloproliferative disease 0.130596165 31 0 BeFree_CTD_human_LHGDN
Cleft Lip 0.130182764 4 0 CTD_human_GAD_LHGDN
Cleft Palate 0.12827274 6 0 BeFree_CTD_human_GAD_LHGDN

基因相关服务

基因相关服务

联系方式

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