TONSL - tonsoku like, DNA repair protein Gene

中文名称：tonsoku like，DNA 修复蛋白

种属: Homo sapiens

同用名: IKBR; SEMDSP; NFKBIL2

基因 ID: 4796 | 基因类型: protein coding

关于 TONSL

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,428,775-144,444,440 (from NCBI)

This gene has 2 transcripts (splice variants), 181 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 3.5), small intestine (RPKM 2.3) and 24 other tissues.

功能概要

该基因编码的蛋白质被认为是 NF-kappa-B 介导的转录的负调节因子。编码的蛋白质可以结合 NF-kappa-B 复合物并将它们捕获在细胞质中，防止它们进入细胞核并与 DNA 相互作用。这种蛋白质的磷酸化通过泛素化途径将其降解，释放 NF-kappa-B 复合物进入细胞核。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

TONSL 基因产物(1)

mRNA	Protein	Name
NM_013432.5	NP_038460.4	tonsoku-like protein

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 histone binding	IDA IDA: 通过直接分析推断	21055983	GOA
enables histone reader activity	IDA IDA: 通过直接分析推断	26527279	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21055983	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in double-strand break repair via homologous recombination	IDA IDA: 通过直接分析推断	27338793	GOA
involved in double-strand break repair via homologous recombination	IMP IMP: 通过突变表型推断	21055983	GOA
involved in protein localization to chromatin	IDA IDA: 通过直接分析推断	27338793	GOA
involved in replication fork processing	IDA IDA: 通过直接分析推断	27338793	GOA
involved in replication fork processing	IMP IMP: 通过突变表型推断	21055983	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of DNA replication factor A complex	IDA IDA: 通过直接分析推断	21055983	GOA
part of FACT complex	IDA IDA: 通过直接分析推断	21055983	GOA
part of MCM complex	IDA IDA: 通过直接分析推断	21055983	GOA
is active in nuclear replication fork	IDA IDA: 通过直接分析推断	26527279	GOA
located in nuclear replication fork	IDA IDA: 通过直接分析推断	21055983	GOA
is active in site of double-strand break	IDA IDA: 通过直接分析推断	26527279	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

TONSL 蛋白结构

TPR_11

Ank_2

Ank

LRR_6

0
300
600
900
1200
1378 a.a.

蛋白主名

其他名称

tonsoku-like protein

I-kappa-B-related protein

TONSL 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	TONSL	Q96HA7	MMS22L	Homo sapiens	Q6ZRQ5	TAP	21113133

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia	Spondylar And Nasal Alterations With Striated Metaphyses
SEMDSP	Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
Spondylar And Nasal Alterations-Striated Metaphyses Syndrome	Spondyloepimetaphyseal Dysplasia Sponastrime Type
Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation	Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia
Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation	Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Coxa Vara

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Nevo Syndrome	Eds Vi
Ehlers-Danlos Syndrome, Type Vi	Eds Via
Ehlers-Danlos Syndrome Type 6	EDSKSCL1
Eds6	Ehlers-Danlos Syndrome Kyphoscoliotic Type 1
Kyphoscoliotic Ehlers-Danlos Syndrome	Cutis Hyperelastica
Ehlers-Danlos Syndrome Type 6a	Ehlers-Danlos Syndrome Oculoscoliotic Type
Kyphoscoliotic Eds	Kyphoscoliotic Eds Due To Lysyl Hydroxylase 1 Deficiency
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Lysyl Hydroxylase-Deficient Eds
Ocular-Scoliotic Eds	Keds
Keds-Plod1	Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type	Ehlers-Danlos Syndrome, Type Via, Formerly
Eds6a, Formerly	Eds 6
Eds, Kyphoscoliotic Type	Eds, Oculoscoliotic Type
Ehlers-Danlos Syndrome, Kyphoscoliosis Type	Ehlers-Danlos Syndrome, Kyphoscoliotic Type
Ehlers-Danlos Syndrome, Oculoscoliotic Type	Eds6a
Ehlers-Danlos Syndrome 6	Ehlers-Danlos Syndrome Kyphoscoliotic Type

Scoliosis

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-RS14889	TONSL Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	TONSL	VGNC	VGNC:79968
Mus musculus	TONSL	MGD	MGI:1919999
Bos taurus	TONSL	VGNC	VGNC:36220
Canis familiaris	TONSL	VGNC	VGNC:47710
Rattus norvegicus	TONSL	RGD	RGD:1307483
Felis catus	TONSL	VGNC	VGNC:68488

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4