KIR2DL1 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 Gene

中文名称：杀伤细胞免疫球蛋白样受体，两个 Ig 结构域和长胞质尾 1

种属: Homo sapiens

同用名: NKAT; NKAT1; p58.1; CD158A; KIR221; NKAT-1; KIR-K64; KIR2DL3

基因 ID: 3802 | 基因类型: protein coding

关于 KIR2DL1

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:54,769,793-54,784,322 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 55 orthologues and 25 paralogues. Low expression observed in reference dataset.

功能概要

杀伤细胞免疫球蛋白样受体 (KIR) 是由自然杀伤细胞和 T 细胞亚群表达的跨膜糖蛋白。 KIR 基因具有多态性和高度同源性，它们位于 1 Mb 白细胞受体复合体 (LRC) 内染色体 19q13.4 的簇中。 KIR 基因簇的基因含量因单倍型而异，尽管在所有单倍型 (KIR3DL3、KIR3DP1、KIR3DL4、KIR3DL2) 中都发现了几个“框架”基因。 KIR 蛋白根据细胞外免疫球蛋白结构域 (2D 或 3D) 的数量以及它们是否具有长 (L) 或短 (S) 细胞质结构域进行分类。具有长细胞质结构域的 KIR 蛋白通过基于免疫酪氨酸的抑制基序 (ITIM) 在配体结合后转导抑制信号，而具有短细胞质结构域的 KIR 蛋白缺乏 ITIM 基序，而是与 TYRO 蛋白酪氨酸激酶结合蛋白结合以转导激活信号。几种 KIR 蛋白的配体是 HLA I 类分子的子集；因此，KIR 蛋白被认为在免疫反应的调节中起重要作用。[RefSeq 提供，2008 年 7 月]

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL1 基因产物(1)

mRNA	Protein	Name
NM_014218.3	NP_055033.2	killer cell immunoglobulin-like receptor 2DL1 precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	8691146	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in natural killer cell inhibitory signaling pathway	IDA IDA: 通过直接分析推断	18604210	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	18604210	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

KIR2DL1 蛋白结构

0
100
200
300
348 a.a.

蛋白主名

其他名称

killer cell immunoglobulin-like receptor 2DL1

CD158 antigen-like family member A

KIR2DL1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	KIR2DL1	P43626	HLA-B	Homo sapiens	P01889	Affinity Chrom	28546555
种属内	KIR2DL1	P43626	HLA-C	Homo sapiens	P10321	FACS	18624290
种属内	KIR2DL1	P43626	HLA-C	Homo sapiens	P10321	Affinity Chrom	19858347
种属内	KIR2DL1	P43626	HLA-C	Homo sapiens	P10321	Affinity Chrom	28546555
种属内	KIR2DL1	P43626	HLA-Cw	Homo sapiens	Q5RIP0	Affinity Chrom	18322206
种属内	KIR2DL1	P43626	HLA-C	Homo sapiens	Q7YQB1	Affinity Chrom	18322206

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 KIR2DL1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P74792	KIR2DL1 Protein, Human (HEK293, Fc)	P43626-1/NP_055033.2 (H22-H245)	≥95%
HY-P74793	KIR2DL1 Protein, Human (HEK293, His)	P43626-1/NP_055033.2 (H22-H245)	≥95%
HY-P78165	KIR2DL1 Protein, Human (Biotinylated, HEK293, His-Avi)	P43626-1 (H22-R242)	≥95%
HY-P78473	KIR2DL1 Protein, Human (HEK293, His-Avi)	P43626-1 (H22-R242)	≥95%

关联疾病

疾病名称

别名

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome	Duane'S Syndrome
Duane Syndrome	Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome	Duane Anomaly, Isolated
Ocular Retraction Syndrome	Drs
Durs

Chronic Nk-Cell Lymphocytosis

Nk-Cell Large Granular Lymphocyte Lymphocytosis

Chronic Lymphoproliferative Disorder Of Nk-Cells

Behcet Syndrome

Behcet Disease	Behcet'S Syndrome
Behcet'S Disease	Behçet Disease
Bd	Adamantiades-Behcet Disease
Triple Symptom Complex	Behçet'S Disease
Behet'S Syndrome	Bd Syndrome
Behçet Syndrome	Behçet'S Syndrome
Behcet Triple Symptom Complex	Malignant Aphthosis
Old Silk Route Disease	Adamantiades-Behçet Disease

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus Type 1
IDDM	Type 1 Diabetes
Insulin-Dependent Diabetes Mellitus	T1D
Juvenile-Onset Diabetes	Jod
Diabetes Mellitus, Type 1	Diabetes Mellitus, Insulin-Dependent-1
Type I Diabetes Mellitus	Autoimmune Diabetes
Juvenile Diabetes	Juvenile-Onset Diabetes Mellitus
Diabetes, Insulin Dependent	Insulin-Dependent Diabetes Mellitus-1
Diabetes Mellitus Insulin-Dependent	Diabetes Autoimmune
Diabetes Mellitus, Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 1, Susceptibility To
Diabetes Type 1	Type I Diabetes
Diabetes, Autoimmune	T1dm - [Type 1 Diabetes Mellitus]
Iddm - [Insulin Dependent Diabetes Mellitus]	Type 1 Iddm
Juvenile Diabetes Mellitus Without Compications	Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications
Juvenile-Onset Diabetes Mellitus Without Compications	Ketosis-Prone Diabetes Mellitus Without Compications
Juvenile-Onset-Type Diabetes Mellitus Without Compications

Human Cytomegalovirus Infection

Cytomegalovirus Infection

Cytomegalovirus Infections

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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KIR2DL1 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 Gene

关于 KIR2DL1

功能概要

KIR2DL1 基因产物(1)

KIR2DL1 蛋白结构

KIR2DL1 蛋白互作信息

重组 KIR2DL1 蛋白

关联疾病

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KIR2DL1 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 Gene

关于 KIR2DL1

功能概要

KIR2DL1 基因产物(1)

KIR2DL1 蛋白结构

KIR2DL1 蛋白互作信息

重组 KIR2DL1 蛋白

关联疾病

相关产品

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z