FAS (Fas cell surface death receptor)

symbol:
FAS
locus group:
protein-coding gene
location:
10q23.31
gene_family:
CD molecules|Tumor necrosis factor receptor superfamily
alias symbol:
CD95|APO-1
alias name:
TNF receptor superfamily member ...
entrez id:
355
ensembl gene id:
ENSG00000026103
ucsc gene id:
uc001kfr.4
refseq accession:
NM_000043
hgnc_id:
HGNC:11920
approved reserved:
1992-06-25
10q23.31

FAS基因(又称FAS细胞表面死亡受体或TNFRSF6)属于肿瘤坏死因子受体超家族(TNF receptor superfamily),主要编码一种称为Fas受体(FasR)的跨膜蛋白。Fas受体与其配体FasL(Fas ligand)结合后,可激活细胞凋亡(程序性细胞死亡)信号通路,在免疫调节、清除异常细胞及维持组织稳态中起关键作用。该基因的主要作用位点为细胞膜,其激活后通过胞内死亡结构域(death domain)招募FADD(Fas-associated protein with death domain),进而启动caspase级联反应,最终导致细胞凋亡。FAS基因突变可能导致功能丧失,引发自身免疫性淋巴增生综合征(ALPS),表现为淋巴细胞异常积累、脾肿大及自身免疫疾病;而过度激活可能与肝细胞凋亡相关的肝炎或组织损伤有关。FAS与多种疾病相关,例如癌症中其表达下调可能导致肿瘤细胞逃避免疫清除,而在神经退行性疾病中异常激活可能加剧神经元凋亡。若FAS过表达,可能引起过度细胞凋亡,导致组织萎缩或器官功能障碍;若表达降低,则可能抑制正常凋亡过程,促进自身免疫或肿瘤发展。FAS基因家族(TNFRSF)的共性包括:均含有富含半胱氨酸的胞外结构域(cysteine-rich domain)和胞内死亡结构域,多数成员通过调控细胞存活或凋亡参与免疫应答。专业术语解释:细胞凋亡(apoptosis)是受控的细胞自我清除过程;死亡结构域(death domain)是介导凋亡信号传递的蛋白相互作用模块;caspase是一类促进凋亡的蛋白酶。若译为“Fas配体”可能更准确(原英文:Fas ligand)。

中文English

由该基因编码的蛋白质是TNF受体超家族的成员。这种受体含有死亡域。它已被显示出在程序性细胞死亡的生理调节中心作用,并在各种恶性肿瘤和免疫系统疾病的发病机理有牵连。该受体与其配体的相互作用可以包括Fas相关死亡域蛋白(FADD),胱天蛋白酶8,和caspase 10.死亡诱导信号传导复合物的形成的半胱氨酸蛋白酶,在复杂的自我蛋白酶处理触发下游胱天蛋白酶级联,并导致细胞凋亡。该受体也已显示活化的NF-κB的,MAPK3 / ERK1和MAPK8 / JNK和被发现涉及在正常二倍体成纤维细胞和T细胞转导的增殖信号。几个可变剪接转录物变体已有描述,其中一些是对无义介导的mRNA降解(NMD)的候选者。缺少跨膜结构域的同种型可通过全长同种型介导的细胞凋亡负调控。 [由RefSeq的,2011年3月提供]

FAS基因的碱基序列:[NCBI]
Loading Gene Browser...
蛋白质序列
1MLGIWTLLPL VLTSVARLSS KSVNAQVTDI NSKGLELRKT
41VTTVETQNLE GLHHDGQFCH KPCPPGERKA RDCTVNGDEP
81 DCVPCQEGK EYTDKAHFSS KCRRCRLCDE GHGLEVEINC
121TRTQNTKCRC KPNFFCNSTV CEHCDPCTKC EHGIIKECTL
161T SNTKCKEE GSRSNLGWLC LLLLPIPLIV WVKRKEVQKT
201CRKHRKENQG SHESPTLNPE TVAINLSDVD LSKYITTIAG
241VM TLSQVKG FVRKNGVNEA KIDEIKNDNV QDTAEQKVQL
281LRNWHQLHGK KEAYDTLIKD LKKANLCTLA EKIQTIILKD
321ITS DSENSN FRNEIQSLV
结构预测来自 AlphaFold DB(UniProt: P25445),颜色表示 pLDDT 置信度(深蓝高、黄橙低)。
FAS基因的碱基突变:           仅显示部分snp
rs4064       rs959799       rs978522       rs978524       rs983751       rs1324551       rs1571014       rs1800682       rs1926197       rs1926198       rs1926199       rs1926200       rs1926201       rs1952135       rs1952136       rs2025719       rs2234767      

FAS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
CAGTTGAGACTCAGAACTTGG
59
CTTTCCTTTCACCTGGAGG
58
CTCCTACCTCTGGTTCTTACG
59
CTTGGAGTTGATGTCAGTCAC
59
CATAAGCCCTGTCCTCCAG
60
CAAGTTAGATCTGGATCCTTCCT
60
CATAAGCCCTGTCCTCCAG
60
AAGTTAGATCTGGATCCTTCCTC
59
TACCTCTGGTTCTTACGTCTG
59
ATCCCTTGGAGTTGATGTCAG
60
AGTTGAGACTCAGAACTTGGA
59
GCTTTCCTTTCACCTGGAG
59
TCCTACCTCTGGTTCTTACG
58
CCTTGGAGTTGATGTCAGTC
58
GAGACTCAGAACTTGGAAGG
58
CCTAGCTTTCCTTTCACCTG
58
CATAAGCCCTGTCCTCCAG
60
AGTTAGATCTGGATCCTTCCTC
59
转录因子
影响基因
影响类型
参考文献链接(PubMed)
ATF2
FAS
Unknown
ATM
FAS
Activation
EGR1
FAS
Repression
FOS
FAS
Activation
GLI1
FAS
Repression
GLI2
FAS
Repression
HDGF
FAS
Activation
JUN
FAS
Activation
JUN
FAS
Unknown
NFKB1
FAS
Activation

FAS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

FAS基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0004888
A0A087WTM9 (UniProtKB)
IEA
GO:0006915
A0A087WTM9 (UniProtKB)
IEA
GO:0006955
A0A087WTM9 (UniProtKB)
IEA
GO:0007165
A0A087WTM9 (UniProtKB)
IEA
GO:0016020
A0A087WTM9 (UniProtKB)
IEA
GO:0004888
A0A087X1Z7 (UniProtKB)
IEA
GO:0006915
A0A087X1Z7 (UniProtKB)
IEA
GO:0006955
A0A087X1Z7 (UniProtKB)
IEA
GO:0007165
A0A087X1Z7 (UniProtKB)
IEA
GO:0016020
A0A087X1Z7 (UniProtKB)
IEA
GO:0004888
A0A0D9SEP1 (UniProtKB)
IEA
GO:0006915
A0A0D9SEP1 (UniProtKB)
IEA
GO:0006955
A0A0D9SEP1 (UniProtKB)
IEA
GO:0007165
A0A0D9SEP1 (UniProtKB)
IEA
GO:0016020
A0A0D9SEP1 (UniProtKB)
IEA
GO:0004888
H7C5Z8 (UniProtKB)
IEA
GO:0005634
H7C5Z8 (UniProtKB)
IDA
GO:0005737
H7C5Z8 (UniProtKB)
IDA
GO:0005886
H7C5Z8 (UniProtKB)
IDA
GO:0006915
H7C5Z8 (UniProtKB)
IEA
GO:0006955
H7C5Z8 (UniProtKB)
IEA
GO:0007165
H7C5Z8 (UniProtKB)
IEA
GO:0001552
P25445 (UniProtKB)
IEA
GO:0002020
P25445 (UniProtKB)
IEA
GO:0002377
P25445 (UniProtKB)
IEA
GO:0003014
P25445 (UniProtKB)
IEA
GO:0004871
P25445 (UniProtKB)
TAS
GO:0004871
P25445 (UniProtKB)
TAS
GO:0004872
P25445 (UniProtKB)
NAS
GO:0005031
P25445 (UniProtKB)
IBA
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005515
P25445 (UniProtKB)
IPI
GO:0005615
P25445 (UniProtKB)
IEA
GO:0005634
P25445 (UniProtKB)
IBA
GO:0005634
P25445 (UniProtKB)
IDA
GO:0005737
P25445 (UniProtKB)
IDA
GO:0005829
P25445 (UniProtKB)
NAS
GO:0005886
P25445 (UniProtKB)
IDA
GO:0005886
P25445 (UniProtKB)
IMP
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005886
P25445 (UniProtKB)
TAS
GO:0005887
P25445 (UniProtKB)
IBA
GO:0006461
P25445 (UniProtKB)
TAS
GO:0006915
P25445 (UniProtKB)
IDA
GO:0006919
P25445 (UniProtKB)
TAS
GO:0006924
P25445 (UniProtKB)
IEA
GO:0006925
P25445 (UniProtKB)
IEA
GO:0006927
P25445 (UniProtKB)
IEA
GO:0006954
P25445 (UniProtKB)
IBA
GO:0006955
P25445 (UniProtKB)
IBA
GO:0007165
P25445 (UniProtKB)
TAS
GO:0007283
P25445 (UniProtKB)
IEA
GO:0007420
P25445 (UniProtKB)
IBA
GO:0007568
P25445 (UniProtKB)
IEA
GO:0007623
P25445 (UniProtKB)
IEA
GO:0008625
P25445 (UniProtKB)
IBA
GO:0009636
P25445 (UniProtKB)
IEA
GO:0009636
P25445 (UniProtKB)
IEA
GO:0009897
P25445 (UniProtKB)
IEA
GO:0009986
P25445 (UniProtKB)
IDA
GO:0010468
P25445 (UniProtKB)
IEA
GO:0016324
P25445 (UniProtKB)
IEA
GO:0019724
P25445 (UniProtKB)
IEA
GO:0019900
P25445 (UniProtKB)
IPI
GO:0021537
P25445 (UniProtKB)
IEA
GO:0030141
P25445 (UniProtKB)
IEA
GO:0031104
P25445 (UniProtKB)
IEA
GO:0031264
P25445 (UniProtKB)
IDA
GO:0031264
P25445 (UniProtKB)
IDA
GO:0031265
P25445 (UniProtKB)
IDA
GO:0032403
P25445 (UniProtKB)
IEA
GO:0032464
P25445 (UniProtKB)
IEA
GO:0032496
P25445 (UniProtKB)
IBA
GO:0033209
P25445 (UniProtKB)
IEA
GO:0042127
P25445 (UniProtKB)
IBA
GO:0042383
P25445 (UniProtKB)
IEA
GO:0042493
P25445 (UniProtKB)
IEA
GO:0042698
P25445 (UniProtKB)
IEA
GO:0042802
P25445 (UniProtKB)
IPI
GO:0042802
P25445 (UniProtKB)
IPI
GO:0042802
P25445 (UniProtKB)
IPI
GO:0042981
P25445 (UniProtKB)
NAS
GO:0042981
P25445 (UniProtKB)
TAS
GO:0043005
P25445 (UniProtKB)
IBA
GO:0043009
P25445 (UniProtKB)
IEA
GO:0043025
P25445 (UniProtKB)
IEA
GO:0043065
P25445 (UniProtKB)
IMP
GO:0043065
P25445 (UniProtKB)
IDA
GO:0043066
P25445 (UniProtKB)
TAS
GO:0043281
P25445 (UniProtKB)
IBA
GO:0043410
P25445 (UniProtKB)
IBA
GO:0043434
P25445 (UniProtKB)
IEA
GO:0045060
P25445 (UniProtKB)
IEA
GO:0045121
P25445 (UniProtKB)
IDA
GO:0045619
P25445 (UniProtKB)
IEA
GO:0045637
P25445 (UniProtKB)
IEA
GO:0046898
P25445 (UniProtKB)
IEA
GO:0048471
P25445 (UniProtKB)
IEA
GO:0048536
P25445 (UniProtKB)
IEA
GO:0050869
P25445 (UniProtKB)
IEA
GO:0051260
P25445 (UniProtKB)
IEA
GO:0051384
P25445 (UniProtKB)
IEA
GO:0060135
P25445 (UniProtKB)
IEA
GO:0070062
P25445 (UniProtKB)
IDA
GO:0070230
P25445 (UniProtKB)
IEA
GO:0070301
P25445 (UniProtKB)
IEA
GO:0070848
P25445 (UniProtKB)
IEA
GO:0071234
P25445 (UniProtKB)
IEA
GO:0071260
P25445 (UniProtKB)
IEP
GO:0071279
P25445 (UniProtKB)
IEA
GO:0071285
P25445 (UniProtKB)
IEA
GO:0071333
P25445 (UniProtKB)
IEA
GO:0071347
P25445 (UniProtKB)
IEA
GO:0071391
P25445 (UniProtKB)
IEA
GO:0071455
P25445 (UniProtKB)
IMP
GO:0071456
P25445 (UniProtKB)
IEA
GO:0071464
P25445 (UniProtKB)
IEA
GO:0097049
P25445 (UniProtKB)
IEA
GO:0097190
P25445 (UniProtKB)
TAS
GO:0097190
P25445 (UniProtKB)
TAS
GO:0097191
P25445 (UniProtKB)
IMP
GO:0097192
P25445 (UniProtKB)
IEA
GO:0097284
P25445 (UniProtKB)
IEA
GO:0097296
P25445 (UniProtKB)
TAS
GO:0097421
P25445 (UniProtKB)
IEA
GO:0097440
P25445 (UniProtKB)
IEA
GO:0097527
P25445 (UniProtKB)
IMP
GO:1902041
P25445 (UniProtKB)
TAS
GO:1902042
P25445 (UniProtKB)
TAS
GO:1902042
P25445 (UniProtKB)
TAS
GO:1902617
P25445 (UniProtKB)
IEA
GO:2001241
P25445 (UniProtKB)
IEA

可能调控 FAS基因的相关microRNA:     

String
BioGrid
IntAct
mentha
MINT
Reactome
加载中…
关联基因 作用方式 资源库来源/分值
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Autoimmune Lymphoproliferative Syndrome 0.462725172 81 1 BeFree_CTD_human_GAD_MGD_ORPHANET_UNIPROT
Cardiomyopathy, Dilated 0.200271442 3 0 BeFree_CTD_human_RGD
Diabetes Mellitus, Experimental 0.2 2 0 CTD_human_RGD
Lung Neoplasms 0.133893193 7 0 BeFree_CTD_human_LHGDN
Autoimmune Diseases 0.130801593 16 0 BeFree_CTD_human_GAD_LHGDN
Chronic Lymphocytic Leukemia 0.127891677 12 2 BeFree_GWASCAT_LHGDN
Leukemia, Myelocytic, Acute 0.127177041 10 0 BeFree_CTD_human_GAD
Liver Failure, Acute 0.123267234 4 0 BeFree_CTD_human_LHGDN
Diabetes Mellitus, Non-Insulin-Dependent 0.122638474 3 0 BeFree_CTD_human_GAD
Lymphoma, T-Cell, Cutaneous 0.121628651 7 0 BeFree_CTD_human
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Goutman SA, Guo K, Park J, Jang DG, Teener SJ, Webber-Davis IF, Famie JP, Piecuch CE, Hur J, Murdock BJ Neurol Open Access 2026-03-00
Chronic fasudil treatment induces benzodiazepine-like tolerance via modulation of GABA-A receptor γ2 subunit expression and impairs contextual fear memory in mice.
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