IBTK - inhibitor of Bruton tyrosine kinase Gene

中文名称：布鲁顿酪氨酸激酶抑制因子

种属: Homo sapiens

同用名: BTKI; BTBD26

基因 ID: 25998 | 基因类型: protein coding

关于 IBTK

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:82,169,987-82,247,744 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele and 212 orthologues. Ubiquitous expression in adrenal (RPKM 16.4), thyroid (RPKM 13.7) and 25 other tissues.

功能概要

布鲁顿酪氨酸激酶 (Btk) 是一种蛋白酪氨酸激酶，在 B 细胞、巨噬细胞和中性粒细胞中表达。该基因编码的蛋白质与 Btk 结合并下调 Btk 的激酶活性。此外，编码的蛋白质会破坏 Btk 介导的钙动员并负向调节核因子-kappa-B 驱动的转录的激活。该基因在 18 号染色体上有一个假基因。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2014 年 7 月]

Bruton tyrosine kinase (Btk) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to Btk and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

IBTK 基因产物(2)

mRNA	Protein	Name
NM_001300906.2	NP_001287835.1	inhibitor of Bruton tyrosine kinase isoform 2
NM_015525.4	NP_056340.2	inhibitor of Bruton tyrosine kinase isoform 1

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 kinase binding	IDA IDA: 通过直接分析推断	11577348	GOA
enables protein tyrosine kinase inhibitor activity	IDA IDA: 通过直接分析推断	11577348	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within negative regulation of protein phosphorylation	IDA IDA: 通过直接分析推断	11577348	GOA
acts upstream of or within release of sequestered calcium ion into cytosol	IDA IDA: 通过直接分析推断	11577348	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	11577348	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

IBTK 蛋白结构

Ank_2

RCC1

BTB

0
300
600
900
1200
1353 a.a.

蛋白主名

其他名称

inhibitor of Bruton tyrosine kinase

BTK-binding protein

关联疾病

疾病名称

别名

Agammaglobulinemia

Hypogammaglobulinemia	Ighm
Mu Heavy Chain Deficiency	Mu-Heavy Chain Disease
Mu-Hcd	Mu-Chain Disease

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma

Cll/Sll	B-Cell Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Icdo:9823/3	Chronic Lymphocytic Leukaemia Of B-Cell Type Without Mention Of Remission
Small Cell B-Cell Lymphoma

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Mantle Cell Lymphoma

Lymphoma, Mantle Cell	Lcm
Mcl	Mantle Zone Lymphoma
Lymphoma Mantle-Cell	Lymphoma, Mantle-Cell
Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse	Malignant Lymphoma - Lymphocytic, Intermediate Differentiation
Diffuse Small Cleaved-Cell Lymphoma	Diffuse Small Cleaved Cell Malignant Lymphoma
Small Cleaved Cell Non-Hodgkin Lymphoma	Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma
Malignant Lymphomatous Polyposis	Malignant Small Cell, Noncleaved, Diffuse Lymphoma
Malignant Undifferentiated Cell, Non-Burkitt Lymphoma	Cleaved Cell Lymphoma
Small Cell Mantle Cell Lymphoma	Small Cleaved Cell Malignant Lymphoma

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia	B-Cell Chronic Lymphocytic Leukemia
CLL	B-Cell Chronic Lymphoid Leukemia
Chronic Lymphatic Leukemia	Chronic Lymphocytic Leukaemia
Lymphoplasmacytic Leukemia	Small Lymphocytic Lymphoma
Leukemia, Chronic Lymphatic	B-Cell Chronic Lymphocytic Leukaemia
Chronic Lymphatic Leukaemia	Lymphoplasmacytic Leukaemia
B Cell Chronic Lymphocytic Leukemia	Chronic B-Cell Lymphocytic Leukemia
Leukemia, Lymphocytic, Chronic	B-Cll
Chronic Lymphoid Leukemia	Leukemia Lymphocytic Chronic
Lymphoma Small Lymphocytic	Leukemia, Lymphocytic, Chronic, B-Cell

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06510	IBTK Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	IBTK	VGNC	VGNC:30022
Felis catus	IBTK	VGNC	VGNC:62865
Rattus norvegicus	IBTK	RGD	RGD:1311697
Mus musculus	IBTK	MGD	MGI:1918677
Canis familiaris	IBTK	VGNC	VGNC:41853
Macaca mulatta	IBTK	VGNC	VGNC:73409

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