TBL1XR1 - TBL1X/Y related 1 Gene

中文名称：TBL1X/Y 相关 1

种属: Homo sapiens

同用名: C21; DC42; IRA1; MRD41; TBLR1

基因 ID: 79718 | 基因类型: protein coding

关于 TBL1XR1

Cytogenetic location: 3q26.32 Genomic coordinates (GRCh38): 3:177,019,344-177,201,800 (from NCBI)

This gene has 39 transcripts (splice variants), 365 orthologues, 2 paralogues and is associated with 86 phenotypes. Ubiquitous expression in thyroid (RPKM 21.1), prostate (RPKM 13.2) and 25 other tissues.

功能概要

该基因是含有 WD40 重复序列的基因家族的成员，与转导蛋白 (β) 样 1X 连锁 (TBL1X) 具有序列相似性。由该基因编码的蛋白质被认为是核受体辅阻遏物 (N-CoR) 和组蛋白脱乙酰酶 3 (HDAC 3) 复合物的组成部分，并且是多种转录因子转录激活所必需的。这些基因的突变与一些自闭症谱系障碍有关，一项发现表明该基因的单倍体不足可能是导致畸形智力障碍的原因。在一些肿瘤中也观察到了该基因的突变以及涉及该基因的反复易位。[RefSeq 提供，2016 年 3 月]

This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]

TBL1XR1 基因产物(8)

mRNA	Protein	Name
NM_001321193.3	NP_001308122.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001321194.3	NP_001308123.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001321195.3	NP_001308124.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 2
NM_001374327.1	NP_001361256.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001374328.1	NP_001361257.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001374329.1	NP_001361258.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001374330.1	NP_001361259.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 2
NM_024665.7	NP_078941.2	F-box-like/WD repeat-containing protein TBL1XR1 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 beta-catenin binding	IPI IPI: 通过物理相互作用推断	18193033	GOA
enables histone binding	IDA IDA: 通过直接分析推断	15601853	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12628926	GOA
enables transcription cis-regulatory region binding	IDA IDA: 通过直接分析推断	18193033	GOA
enables transcription corepressor activity	IDA IDA: 通过直接分析推断	12628926	GOA
enables transcription corepressor activity	IGI IGI: 通过遗传相互作用推断	15601853	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	12628926	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	18193033	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: 通过突变表型推断	18193033	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	18193033	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of histone deacetylase complex	IDA IDA: 通过直接分析推断	18326024	GOA
located in mitotic spindle	IDA IDA: 通过直接分析推断	18326024	GOA
located in nucleus	IDA IDA: 通过直接分析推断	18193033	GOA
part of transcription repressor complex	IDA IDA: 通过直接分析推断	12628926	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

TBL1XR1 蛋白结构

LisH

WD40

0
100
200
300
400
514 a.a.

蛋白主名

其他名称

F-box-like/WD repeat-containing protein TBL1XR1

TBL1-related protein 1

TBL1XR1 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	TBL1XR1	Q9BZK7	ARL2	Homo sapiens	P36404	Y2H Prey Pooling	25416956
种属内	TBL1XR1	Q9BZK7	ARL2	Homo sapiens	P36404	Y2H Array	31515488
种属内	TBL1XR1	Q9BZK7	ARL2	Homo sapiens	P36404	Validated Y2H	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

TBL1XR1 抗体

目录号	产品名	应用	反应物种
HY-P81311	TBL1XR1 Antibody (YA1052)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse
HY-P81311A	TBL1XR1 Antibody (YA1053)	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P81339	TBLR1 Antibody (YA1084)	WB, IHC-P, ICC/IF	Human, Monkey

关联疾病

疾病名称

别名

Pierpont Syndrome

Plantar Lipomatosis, Unusual Facies, And Developmental Delay	PRPTS
Plantar Lipomatosis-Facial Dysmorphism-Developmental Delay Syndrome	Plantar Lipomatosis-Unusual Facies-Developmental Delay Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 41

MRD41	Autosomal Dominant Non-Syndromic Intellectual Disability 41
Mental Retardation, Autosomal Dominant 41	Autosomal Dominant Intellectual Developmental Disorder 41
Autosomal Dominant Mental Retardation 41	Mental Retardation, Autosomal Dominant, Type 41

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic	Acute Myeloblastic Leukemia Type 3
Aml M3	APL
Leukemia, Acute Promyelocytic, Somatic	Aml With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Apml
Acute Myeloblastic Leukemia 3	Acute Myeloid Leukemia With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Acute Myeloblastic Leukaemia Type 3
Acute Myeloid Leukaemia M3	Acute Myeloid Leukemia M3
Acute Promyelocytic Leukaemia	M3 Anll
Myeloid Leukemia, Acute, M3	Leukemia Promyelocytic Acute
Leukemia, Promyelocytic, Acute	Leukemia, Acute, Promyelocytic

Learning Disability

Learning Disabilities	Learning Disorders
Academic Skill Disorder	Learning Disorder

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Tremor, Hereditary Essential, 2

ETM2	Essential Tremor 2
Essential Tremor, Hereditary, 2	Hereditary Essential Tremor 2
Tremor Hereditary Essential, 2

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Testicular Lymphoma

Malignant Lymphoma Of Testis

Lymphoma Of The Testis

Central Nervous System Hematologic Cancer

Cns Hematopoietic Tumor	Hematopoietic Neoplasm Of Central Nervous System
Central Nervous System Hematopoietic Neoplasm

Central Nervous System Lymphoma

Microglioma	Primary Cns Lymphoma
Cns Lymphoma	Primary Central Nervous System Lymphoma

Joubert Syndrome 7

JBTS7	Cerebello-Oculo-Renal Syndrome 3
Cors3	Joubert Syndrome, Type 7

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

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-RS14262	TBL1XR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	TBL1XR1	VGNC	VGNC:83172
Mus musculus	TBL1XR1	MGD	MGI:2441730
Felis catus	TBL1XR1	VGNC	VGNC:96550
Canis familiaris	TBL1XR1	VGNC	VGNC:83111
Rattus norvegicus	TBL1XR1	RGD	RGD:1560053
Bos taurus	TBL1XR1	VGNC	VGNC:83112

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