RCBTB1 - RCC1 and BTB domain containing protein 1 Gene

中文名称：含 RCC1 和 BTB 结构域蛋白质 1

种属: Homo sapiens

同用名: GLP; CLLD7; CLLL7; RDEOA

基因 ID: 55213 | 基因类型: protein coding

关于 RCBTB1

Cytogenetic location: 13q14.2 Genomic coordinates (GRCh38): 13:49,531,946-49,585,558 (from NCBI)

This gene has 4 transcripts (splice variants), 271 orthologues, 9 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 19.0), brain (RPKM 9.6) and 25 other tissues.

功能概要

该基因编码的蛋白质具有 N 端 RCC1 结构域和 C 端 BTB (广泛复合物、电车轨道和 bric-a-brac) 结构域。在大鼠中，该基因在血管平滑肌细胞中的过度表达诱导了细胞肥大。在大鼠中，RCBTB1 的 C 末端与血管紧张素 II 受体 1A 相互作用。在人类中，该基因映射到染色体 13q 的一个区域，该区域在 B 细胞慢性淋巴细胞白血病和其他淋巴恶性肿瘤中经常被删除。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and Other lymphoid malignancies. [provided by RefSeq, Jul 2008]

RCBTB1 基因产物(8)

mRNA	Protein	Name
NM_001352500.2	NP_001339429.1	RCC1 and BTB domain-containing protein 1 isoform a
NM_001352501.2	NP_001339430.1	RCC1 and BTB domain-containing protein 1 isoform a
NM_001352502.2	NP_001339431.1	RCC1 and BTB domain-containing protein 1 isoform a
NM_001352503.2	NP_001339432.1	RCC1 and BTB domain-containing protein 1 isoform a
NM_001352504.2	NP_001339433.1	RCC1 and BTB domain-containing protein 1 isoform b
NM_001352505.2	NP_001339434.1	RCC1 and BTB domain-containing protein 1 isoform c
NM_001352506.2	NP_001339435.1	RCC1 and BTB domain-containing protein 1 isoform d
NM_018191.4	NP_060661.3	RCC1 and BTB domain-containing protein 1 isoform a

基因本体论

分子功能

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	28514442	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

RCBTB1 蛋白结构

RCC1

BTB

0
100
200
300
400
500
531 a.a.

蛋白主名

其他名称

RCC1 and BTB domain-containing protein 1

CLL deletion region gene 7 protein

RCBTB1 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	RCBTB1	Q8NDN9	ANKRD40	Homo sapiens	Q6AI12	Anti Tag CoIP	28514442
种属内	RCBTB1	Q8NDN9	ANKRD40	Homo sapiens	Q6AI12	Anti Tag CoIP	33961781

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

Retinal Dystrophy With Or Without Extraocular Anomalies

RDEOA

Dystrophy, Retinal, With/Without Extraocular Anomalies

Reticular Dystrophy Of Retinal Pigment Epithelium

Reticular Dystrophy Of The Retinal Pigment Epithelium

Coats Disease

Exudative Retinopathy	Retinal Telangiectasis
Coats' Disease	Leber Miliary Aneurysm
Coats' Syndrome	Congenital Retinal Telangiectasia

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy	Fevr
Criswick-Schepens Syndrome	Exudative Vitreoretinopathy, Familial
Vitreoretinopathy, Exudative )	Exudative Vitreoretinopathy 1

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Retinal Telangiectasia

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Infantile Cerebellar-Retinal Degeneration

ICRD	Infantile Cerebellar Retinal Degeneration
Degeneration, Cerebellar-Retinal, Infantile

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Norrie Disease

Atrophia Bulborum Hereditaria	Episkopi Blindness
Pseudoglioma	ND
Norrie-Warburg Disease	Anderson-Warburg Syndrome
Fetal Iritis Syndrome	Norrie Syndrome
Norrie-Warburg Syndrome	Ndp
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration	Norrie'S Disease
Oligophrenia Microphthalmus	Pseudoglioma Congenita
Whitnall-Norman Syndrome

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS11782	RCBTB1 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	RCBTB1	VGNC	VGNC:76763
Rattus norvegicus	RCBTB1	RGD	RGD:1308467
Canis familiaris	RCBTB1	VGNC	VGNC:45439
Bos taurus	RCBTB1	VGNC	VGNC:33823
Mus musculus	RCBTB1	MGD	MGI:1918580

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站点地图隐私声明

粤ICP备2021105330号-3

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）

RCBTB1 - RCC1 and BTB domain containing protein 1 Gene

关于 RCBTB1

功能概要

RCBTB1 基因产物(8)

RCBTB1 蛋白结构

RCBTB1 蛋白互作信息

关联疾病

直系同源

热门区域

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RCBTB1 - RCC1 and BTB domain containing protein 1 Gene

关于 RCBTB1

功能概要

RCBTB1 基因产物(8)

RCBTB1 蛋白结构

RCBTB1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

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Q

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