RFX5 - regulatory factor X5 Gene

中文名称：调节因子 X5

种属: Homo sapiens

基因 ID: 5993 | 基因类型: protein coding

关于 RFX5

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,340,640-151,347,252 (from NCBI)

This gene has 21 transcripts (splice variants), 196 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 26.5), spleen (RPKM 21.2) and 24 other tissues.

功能概要

缺乏 MHC-II 表达会导致严重的免疫缺陷综合征，称为 MHC-II 缺陷或裸淋巴细胞综合征 (BLS; MIM 209920) 。从 BLS 患者建立的 B 细胞系中至少鉴定出 4 个互补组。互补组 B、C 和 D 中的分子缺陷都会导致 RFX 缺陷，RFX 是一种与 MHC-II 启动子 X 盒结合的核蛋白复合物。互补组 C 中 RFX 结合活性的缺乏是由于编码 RFX 的 75-kD 亚基的 RFX5 基因突变所致 (Steimle 等人，1995) 。 RFX5 是不断壮大的 DNA 结合蛋白家族的第五个成员，它们共享一个新颖且高度特征化的 DNA 结合结构域，称为 RFX 基序。已发现多个可变剪接的转录本变体，但仅确定了两个的全长性质。[RefSeq 提供，2008 年 7 月]

A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]

RFX5 基因产物(11)

mRNA	Protein	Name
NM_000449.4	NP_000440.1	DNA-binding protein RFX5 isoform 1
NM_001025603.2	NP_001020774.1	DNA-binding protein RFX5 isoform 1
NM_001379412.1	NP_001366341.1	DNA-binding protein RFX5 isoform 1
NM_001379413.1	NP_001366342.1	DNA-binding protein RFX5 isoform 1
NM_001379414.1	NP_001366343.1	DNA-binding protein RFX5 isoform 1
NM_001379415.1	NP_001366344.1	DNA-binding protein RFX5 isoform 1
NM_001379416.1	NP_001366345.1	DNA-binding protein RFX5 isoform 1
NM_001379417.1	NP_001366346.1	DNA-binding protein RFX5 isoform 1
NM_001379418.1	NP_001366347.1	DNA-binding protein RFX5 isoform 1
NM_001379419.1	NP_001366348.1	DNA-binding protein RFX5 isoform 2
NM_001379420.1	NP_001366349.1	DNA-binding protein RFX5 isoform 2

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 DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	10586057	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IGI IGI: 通过遗传相互作用推断	9806546	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	9806546	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10938133	GOA
enables sequence-specific DNA binding	IDA IDA: 通过直接分析推断	23332764	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	9806546	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of RNA polymerase II transcription regulator complex	IPI IPI: 通过物理相互作用推断	9806546	GOA
located in nucleus	IDA IDA: 通过直接分析推断	10938133	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

RFX5 蛋白结构

RFX_DNA_binding

RFX5_DNA_bdg

0
100
200
300
400
500
616 a.a.

蛋白主名

其他名称

DNA-binding protein RFX5

regulatory factor X 5

RFX5 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
Intra	RFX5	P48382	RFXANK	Homo sapiens	O14593	Y2H Array	20211142
Intra	RFX5	P48382	RFXANK	Homo sapiens	O14593	Pull Down	10938133
Intra	RFX5	P48382	RFXANK	Homo sapiens	O14593	Anti Bait CoIP	10938133
Intra	RFX5	P48382	HDAC2	Homo sapiens	Q92769	Anti Tag CoIP	16464847
Intra	RFX5	P48382	RFXAP	Homo sapiens	O00287	Anti Bait CoIP	10938133
Intra	RFX5	P48382	RFXAP	Homo sapiens	O00287	Anti Tag CoIP	33961781
Intra	RFX5	P48382	RFXAP	Homo sapiens	O00287	Pull Down	10938133
Intra	RFX5	P48382	RFXAP	Homo sapiens	O00287	Anti Tag CoIP	26496610
Intra	RFX5	P48382	RFXAP	Homo sapiens	O00287	Anti Tag CoIP	28514442

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

Bare Lymphocyte Syndrome, Type Ii

Mhc Class Ii Deficiency	Bare Lymphocyte Syndrome
Major Histocompatibility Complex Class Ii Deficiency	Bare Lymphocyte Syndrome 2
Bare Lymphocyte Syndrome Type 2	Severe Combined Immunodeficiency, Hla Class Ii-Negative
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C	Bare Lymphocyte Syndrome, Type Ii, Complementation Group D
Bare Lymphocyte Syndrome Type Ii	Scid, Hla Class Ii-Negative
Bare Lymphocyte Syndrome, Type Ii, Complementation Group A	Bare Lymphocyte Syndrome, Type Ii, Complementation Group B
Scid Due To Absent Class Ii Hla Antigens	Hla Class 1 Deficiency
Scid, Hla Class 2-Negative	Bls Type Ii
Bare Lymphocyte Syndrome Type 2, Complementation Group A	Bare Lymphocyte Syndrome Type 2, Complementation Group E
Severe Combined Immunodeficiency	Bls, Type Ii
Bls	Bare Lymphocyte Syndrome, Type Ii, Complementation Group E
Blsii	Bls Type 1
Bls 2	Scid Due To Absence Of Class Ii Hla Antigens
Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens	Immunodeficiency By Defective Expression Of Mhc Class Ii
BLS2	Bare Lymphocyte Syndrome Type Ii Complementation Group A
Bare Lymphocyte Syndrome Type Ii Complementation Group B	Bare Lymphocyte Syndrome Type Ii Complementation Group C
Bare Lymphocyte Syndrome Type Ii Complementation Group D	Bare Lymphocyte Syndrome Type Ii Complementation Group E
Bls Ii	Hereditary Mhc Class Ii Deficiency
Hla Class Ii Deficient Combined Immunodeficiency	Mhc-Ii Deficiency
Scid Hla Class Ii-Negative	Severe Combined Immunodeficiency Hla Class Ii-Negative
Bl-2	Immunodeficiency By Defective Expression Of Hla Class 2
Hla Class 2-Negative Severe Combined Immunodeficiency

Immunodeficiency 12

Combined Immunodeficiency Due To Malt1 Deficiency	IMD12
Immunodeficiency, Type 12

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Bare Lymphocyte Syndrome, Type I

Hla Class I Deficiency	Mhc Class I Deficiency
Bls, Type I	Bare Lymphocyte Syndrome Type I
Bare Lymphocyte Syndrome, Type I, Due To Tap2 Deficiency	Blsi
Mhc Class 1 Deficiency	Major Histocompatibility Complex Class 1 Deficiency
Bare Lymphocyte Syndrome 1	BLS1
Bls I	Bls Type I
Bl-1	Bare Lymphocyte Syndrome Type 1
Immunodeficiency By Defective Expression Of Hla - [Human Leukocyte Antigen] Class 1	Scid - [Severe Combined Immunodeficiency] Due To Absent Class 2 Hla Antigens
Bls - [Bare Lymphocyte Syndrome] Nos

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

Prion Disease

Spongiform Encephalopathy	Transmissible Spongiform Encephalopathies
Prion Diseases	Prion Disease Pathway
Transmissible Spongiform Encephalopathy	Prion Induced Disorder
Prion Protein Disease	Inherited Human Transmissible Spongiform Encephalopathies
Prion Protein Diseases	Prion-Associated Disorders
Prion-Induced Disorders	Transmissible Dementias
Tses	Human Prion Disease
Tse	Encephalopathy, Transmissible Spongiform
Prion Disease, Susceptibility To	Spongiform Encephalopathies
Human Transmissible Spongiform Encephalopathies, Inherited

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-RS11883	RFX5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	RFX5	MGD	MGI:1858421
Bos taurus	RFX5	VGNC	VGNC:33897
Felis catus	RFX5	VGNC	VGNC:69307
Rattus norvegicus	RFX5	RGD	RGD:1311677
Canis familiaris	RFX5	VGNC	VGNC:45507
Macaca mulatta	RFX5	VGNC	VGNC:106483

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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）

RFX5 - regulatory factor X5 Gene

关于 RFX5

功能概要

RFX5 基因产物(11)

RFX5 蛋白结构

RFX5 蛋白互作信息

关联疾病

直系同源

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RFX5 - regulatory factor X5 Gene

关于 RFX5

功能概要

RFX5 基因产物(11)

RFX5 蛋白结构

RFX5 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

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C

F

G

H

J

L

N

Q

S

T

X

Y

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