FASN (fatty acid synthase)

symbol:
FASN
locus group:
protein-coding gene
location:
17q25.3
gene_family:
Short chain dehydrogenase/reductase superfamily
alias symbol:
FAS|SDR27X1
alias name:
short chain dehydrogenase/reductas…
entrez id:
2194
ensembl gene id:
ENSG00000169710
ucsc gene id:
uc002kdu.5
refseq accession:
NM_004104
hgnc_id:
HGNC:3594
approved reserved:
1994-05-17
17q25.3
基因染色体位置图

FASN基因编码脂肪酸合酶(Fatty Acid Synthase),这是一种多功能酶,在脂肪酸的生物合成中起核心作用。FASN的主要功能是将乙酰辅酶A和丙二酰辅酶A转化为长链脂肪酸(如棕榈酸),这一过程对细胞膜形成、能量储存和信号传导至关重要。FASN主要在肝脏、脂肪组织和乳腺等高脂质代谢活跃的组织中表达,其活性受营养状态和激素(如胰岛素)的调控。FASN属于脂肪酸合酶基因家族,该家族成员通常具有多个功能域(如酮酰合成酶、酰基转移酶和烯酰还原酶等),共同协作完成脂肪酸的逐步延长。FASN的功能异常与多种疾病相关,尤其是癌症。在许多肿瘤(如乳腺癌、前列腺癌和卵巢癌)中,FASN常过度表达,为快速增殖的癌细胞提供必需的脂质成分,并可能通过影响细胞信号通路促进肿瘤进展。FASN过表达还与代谢性疾病(如肥胖和糖尿病)相关,因其可能加剧脂质堆积和胰岛素抵抗。相反,FASN表达降低或功能缺失可能导致脂肪酸缺乏,影响细胞膜完整性和能量代谢,在动物模型中甚至引发肝脂肪变性和发育缺陷。FASN的突变较为罕见,但某些突变可能破坏其酶活性,导致脂质代谢紊乱。针对FASN的抑制剂正在作为潜在的抗癌药物进行研究,但需注意全身性抑制可能带来的代谢副作用。FASN的表达还受转录因子(如SREBP-1c)和表观遗传调控的影响,其活性与AMPK/mTOR等代谢通路密切相关。

The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]

由该基因编码的酶是一种多功能蛋白质。它的主要功能是催化从乙酰辅酶A和丙二酰-CoA棕榈酸酯的合成,在NADPH存在,成长链饱和脂肪酸。在某些癌细胞系中,该蛋白质已被发现具有雌激素受体α(ER-α),其中FAS的N-末端在帧融合与ER-α的C末端融合。 [由RefSeq的,2008年7月提供]

FASN基因的碱基序列:[NCBI]
Loading Gene Browser...
FASN基因的碱基突变:           仅显示部分snp
rs15324       rs1140607       rs1140608       rs1140613       rs1140616       rs1140619       rs1140622       rs1140624       rs2228305       rs2228306       rs2228307       rs2228309       rs2229421       rs2229422       rs2229425       rs2229426       rs4075080      

FASN基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CAACCTCTCCCAGGTATGC
60
GATGCTGATGATGGACTCCA
60
TATCTGTGAGAAACGCCGG
60
CTTGTAGTAGAAGGACCGGG
59
TTCATCTGCTCTGGGATGG
59
CGTAGGATGGAATCTCGGA
58
CTACGTACTGGCCTACACC
59
GAAGAAGCATATGGCCTCC
58
CAACCTCTCCCAGGTATGC
60
GATGCTGATGATGGACTCCA
60
CAACCTCTCCCAGGTATGC
60
GATGCTGATGATGGACTCCA
60
CTTCCTCACCTCCACTGAG
59
GTAGAAGGACTTCTTCAGGC
58
CTTCCTCACCTCCACTGAG
59
TAGAAGGACTTCTTCAGGCC
59
CAACCTCTCCCAGGTATGC
60
ATGCTGATGATGGACTCCAG
60
CCTACGTACTGGCCTACAC
59
CATATGGCCTCCGTCTCAG
60
转录因子
影响基因
影响类型
参考文献链接(PubMed)
KLF5
FASN
Activation
SREBF1
FASN
Unknown

FASN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

FASN基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0004313
A0A0U1RQF0 (UniProtKB)
IEA
GO:0004314
A0A0U1RQF0 (UniProtKB)
IEA
GO:0004315
A0A0U1RQF0 (UniProtKB)
IEA
GO:0004316
A0A0U1RQF0 (UniProtKB)
IEA
GO:0004317
A0A0U1RQF0 (UniProtKB)
IEA
GO:0004319
A0A0U1RQF0 (UniProtKB)
IEA
GO:0004320
A0A0U1RQF0 (UniProtKB)
IEA
GO:0009058
A0A0U1RQF0 (UniProtKB)
IEA
GO:0016295
A0A0U1RQF0 (UniProtKB)
IEA
GO:0016296
A0A0U1RQF0 (UniProtKB)
IEA
GO:0031177
A0A0U1RQF0 (UniProtKB)
IEA
GO:0055114
A0A0U1RQF0 (UniProtKB)
IEA
GO:0003824
A0A0U1RRG3 (UniProtKB)
IEA
GO:0008152
A0A0U1RRG3 (UniProtKB)
IEA
GO:0001649
P49327 (UniProtKB)
IDA
GO:0004312
P49327 (UniProtKB)
TAS
GO:0004313
P49327 (UniProtKB)
IEA
GO:0004314
P49327 (UniProtKB)
IEA
GO:0004315
P49327 (UniProtKB)
IEA
GO:0004316
P49327 (UniProtKB)
IEA
GO:0004317
P49327 (UniProtKB)
IEA
GO:0004319
P49327 (UniProtKB)
IEA
GO:0004320
P49327 (UniProtKB)
IEA
GO:0005515
P49327 (UniProtKB)
IPI
GO:0005515
P49327 (UniProtKB)
IPI
GO:0005737
P49327 (UniProtKB)
IDA
GO:0005739
P49327 (UniProtKB)
IEA
GO:0005794
P49327 (UniProtKB)
IDA
GO:0005829
P49327 (UniProtKB)
TAS
GO:0005829
P49327 (UniProtKB)
TAS
GO:0005829
P49327 (UniProtKB)
TAS
GO:0005829
P49327 (UniProtKB)
TAS
GO:0005829
P49327 (UniProtKB)
TAS
GO:0005886
P49327 (UniProtKB)
IDA
GO:0006084
P49327 (UniProtKB)
IEA
GO:0006631
P49327 (UniProtKB)
TAS
GO:0006633
P49327 (UniProtKB)
IEA
GO:0006633
P49327 (UniProtKB)
IEA
GO:0008144
P49327 (UniProtKB)
IEA
GO:0015939
P49327 (UniProtKB)
TAS
GO:0016020
P49327 (UniProtKB)
IDA
GO:0016020
P49327 (UniProtKB)
IDA
GO:0016295
P49327 (UniProtKB)
IEA
GO:0016296
P49327 (UniProtKB)
IEA
GO:0030879
P49327 (UniProtKB)
IEA
GO:0031177
P49327 (UniProtKB)
IEA
GO:0031325
P49327 (UniProtKB)
TAS
GO:0035338
P49327 (UniProtKB)
TAS
GO:0042470
P49327 (UniProtKB)
IEA
GO:0042587
P49327 (UniProtKB)
IEA
GO:0042803
P49327 (UniProtKB)
IEA
GO:0044822
P49327 (UniProtKB)
IDA
GO:0044822
P49327 (UniProtKB)
IDA
GO:0047117
P49327 (UniProtKB)
IEA
GO:0047451
P49327 (UniProtKB)
IEA
GO:0055114
P49327 (UniProtKB)
IEA
GO:0070062
P49327 (UniProtKB)
IDA
GO:0070062
P49327 (UniProtKB)
IDA
GO:0070062
P49327 (UniProtKB)
IDA
GO:0070062
P49327 (UniProtKB)
IDA
GO:0070402
P49327 (UniProtKB)
IEA
GO:0071353
P49327 (UniProtKB)
IEA

可能调控 FASN基因的相关microRNA:     

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
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Mammary Neoplasms 0.135250402 12 0 BeFree_CTD_human_LHGDN
Obesity 0.128805692 17 0 BeFree_CTD_human_GAD
Liver carcinoma 0.125700279 23 0 BeFree_CTD_human
melanoma 0.121900093 10 0 BeFree_CTD_human
liposarcoma 0.120542884 3 0 BeFree_CTD_human
ovarian neoplasm 0.120271442 2 0 BeFree_CTD_human
Intellectual Disability 0.12 1 0 CTD_human
Kidney Failure, Chronic 0.12 1 0 CTD_human
Malignant neoplasm of breast 0.017839219 57 0 BeFree_GAD
Breast Carcinoma 0.015472187 57 0 BeFree

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