KLRK1 (killer cell lectin like receptor K1)

symbol:
KLRK1
locus group:
protein-coding gene
location:
12p13.2
gene_family:
CD molecules|Killer cell lectin-like receptors
alias symbol:
NKG2D|KLR|NKG2-D|CD314
alias name:
None
entrez id:
22914
ensembl gene id:
ENSG00000213809
ucsc gene id:
uc009zhj.4
refseq accession:
NM_007360
hgnc_id:
HGNC:18788
approved reserved:
2003-12-12
12p13.2
基因染色体位置图

KLRK1(Killer Cell Lectin Like Receptor K1)也称为NKG2D,是一种重要的免疫受体基因,属于C型凝集素样受体家族(CLEC家族)。它主要在自然杀伤细胞(NK细胞)、CD8+ T细胞和某些γδ T细胞表面表达,作为激活受体参与免疫应答。KLRK1编码的NKG2D蛋白通过与配体(如MICA、MICB和ULBP家族分子)结合,触发细胞毒性反应,清除感染或恶性转化的细胞。这些配体通常在应激、感染或肿瘤细胞表面异常表达,因此NKG2D在抗肿瘤和抗病毒免疫中起关键作用。KLRK1的功能突变可能影响受体与配体的结合效率,导致免疫监视功能下降,增加感染或癌症风险。例如,某些突变可能降低NK细胞对肿瘤细胞的杀伤能力。KLRK1过表达可能增强免疫细胞对异常细胞的清除,但也可能引发自身免疫反应,如攻击正常组织;而表达降低则可能导致免疫逃逸,使机体易受感染或肿瘤发展。该基因属于NKG2受体家族,其成员均具有C型凝集素样结构域,参与识别应激相关分子并调节免疫细胞活性。研究表明,某些病毒(如巨细胞病毒)和肿瘤会通过下调NKG2D配体或分泌可溶性配体来逃避免疫攻击,因此KLRK1通路是免疫治疗的重要靶点。此外,NKG2D信号异常还与类风湿性关节炎等自身免疫疾病相关,可能因持续激活导致组织损伤。

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]

自然杀伤(NK)细胞是可介导某些肿瘤细胞和病毒感染细胞的裂解而不先前活化淋巴细胞。它们还可以调节特异性体液和细胞介导的??免疫。 NK细胞优先表达几种钙依赖性(C型)凝集素,已在NK细胞功能的调节有牵连。所述NKG2基因家族位于NK复杂,它包含在NK细胞中优先表达的几种C-型凝集素基因的区域内。该基因编码的NKG2家族的一个成员。所编码的跨膜蛋白的特征是II型膜取向(具有胞外C末端)和C型凝集素结构域的存在。它结合于不同的家族配体包括MHC I类链相关A和B蛋白和UL-16的结合蛋白,其中,配体 - 受体相互作用可导致NK细胞和T细胞的活化。这些配体的表面表达为识别强调细胞重要的免疫系统,因此,这种蛋白质和其配体是免疫疾病和癌症的治疗中的治疗目标。此基因和上游KLRC4(杀伤细胞凝集素样受体亚家族C,成员4)家族成员同一集群中之间存在通读转录。 [由RefSeq的,2010年12月提供]

CCND1基因的碱基序列:[NCBI]
Loading Gene Browser...
KLRK1基因的碱基突变:           仅显示部分snp
rs1049172       rs1049174       rs1351113       rs1382264       rs1382265       rs1478309       rs1478310       rs1600127       rs1600128       rs1904123       rs2045876       rs2061754       rs2061755       rs2086098       rs2086099       rs2126889       rs2255336      

KLRK1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
CTGAGCAGGAATCCTTTGTG
59
TTGACTACTGGACATCTTTGC
58
TGGTAACAATATGGAGTGCTG
58
GCCACAGTAACTTTCGGTC
59
GACACAGCTGGGAGATGAG
60
TTTGACTACTGGACATCTTTGC
59
GATGGGACTAGTACACATTCC
58
TATTGTTAGTAGGTTGGGTGAG
57
GTTTAGGCAAGCATCTCCA
58
ACAGCACTCCATATTGTTACC
58
TGGTAACAATATGGAGTGCTG
58
GCCACAGTAACTTTCGGTC
59
ATGGTAACAATATGGAGTGCTG
59
CACAGTAACTTTCGGTCAAGG
59
CGTTTAGGCAAGCATCTCC
59
CAGCACTCCATATTGTTACCA
58
ATGGGACTAGTACACATTCCA
58
TATTGTTAGTAGGTTGGGTGAG
57
ATGGTAACAATATGGAGTGCTG
59
CACAGTAACTTTCGGTCAAGG
59
转录因子
影响基因
影响类型
参考文献链接(PubMed)
ATM
KLRK1
Activation

KLRK1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

KLRK1基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0002223
P26718 (UniProtKB)
IEA
GO:0002250
P26718 (UniProtKB)
IEA
GO:0002860
P26718 (UniProtKB)
IEA
GO:0004872
P26718 (UniProtKB)
TAS
GO:0005515
P26718 (UniProtKB)
IPI
GO:0005515
P26718 (UniProtKB)
IPI
GO:0005515
P26718 (UniProtKB)
IPI
GO:0005515
P26718 (UniProtKB)
IPI
GO:0005515
P26718 (UniProtKB)
IPI
GO:0005515
P26718 (UniProtKB)
IPI
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005886
P26718 (UniProtKB)
TAS
GO:0005887
P26718 (UniProtKB)
TAS
GO:0007165
P26718 (UniProtKB)
TAS
GO:0009897
P26718 (UniProtKB)
IEA
GO:0009986
P26718 (UniProtKB)
IDA
GO:0009986
P26718 (UniProtKB)
IDA
GO:0016021
P26718 (UniProtKB)
TAS
GO:0019900
P26718 (UniProtKB)
IEA
GO:0030101
P26718 (UniProtKB)
TAS
GO:0030154
P26718 (UniProtKB)
IEA
GO:0030246
P26718 (UniProtKB)
IEA
GO:0030887
P26718 (UniProtKB)
IEA
GO:0031295
P26718 (UniProtKB)
TAS
GO:0032394
P26718 (UniProtKB)
IEA
GO:0032729
P26718 (UniProtKB)
IEA
GO:0034260
P26718 (UniProtKB)
IDA
GO:0042288
P26718 (UniProtKB)
IEA
GO:0042803
P26718 (UniProtKB)
IEA
GO:0043065
P26718 (UniProtKB)
IEA
GO:0045087
P26718 (UniProtKB)
IEA
GO:0045429
P26718 (UniProtKB)
IEA
GO:0045954
P26718 (UniProtKB)
IDA
GO:0050776
P26718 (UniProtKB)
TAS
GO:0050830
P26718 (UniProtKB)
IEA
GO:0071222
P26718 (UniProtKB)
IEA
GO:2000502
P26718 (UniProtKB)
IDA
GO:0016021
Q8WZ67 (UniProtKB)
IEA

可能调控 KLRK1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
melanoma 0.126534468 7 0 BeFree_CTD_human_LHGDN
Myocardial Reperfusion Injury 0.08 1 0 RGD
Histiocytoma 0.08 1 0 RGD
Colorectal Neoplasms 0.005720142 3 0 BeFree_LHGDN
Hepatitis 0.0054487 2 0 LHGDN
Infection 0.0054487 2 0 LHGDN
Stomach Neoplasms 0.0054487 2 0 LHGDN
Cholangiocarcinoma 0.005362824 1 0 BeFree_GAD_LHGDN
Multiple Myeloma 0.004895885 9 0 BeFree_LHGDN
Leukemia, Myelocytic, Acute 0.003810118 4 0 BeFree_LHGDN

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