RFXANK - regulatory factor X associated ankyrin containing protein Gene

中文名称：含调节因子 X 相关锚蛋白

种属: Homo sapiens

同用名: BLS; RFX-B; ANKRA1; F14150_1

基因 ID: 8625 | 基因类型: protein coding

关于 RFXANK

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,192,258-19,201,866 (from NCBI)

This gene has 15 transcripts (splice variants), 188 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 13.0), bone marrow (RPKM 11.7) and 25 other tissues.

功能概要

主要组织相容性 (MHC) II 类分子是跨膜蛋白，在免疫系统的发育和控制中起着核心作用。该基因编码的蛋白质与调节因子 X 相关蛋白和调节因子 5 一起形成一个复合物，该复合物与某些 MHC II 类基因启动子的 X 盒基序结合并激活它们的转录。一旦与启动子结合，该复合物就会与非 DNA 结合因子 MHC II 类反式激活因子结合，后者控制细胞类型特异性和 MHC II 类基因表达的诱导性。这种蛋白质包含参与蛋白质-蛋白质相互作用的锚蛋白重复序列。该基因的突变与 II 型裸淋巴细胞综合征、B 型互补组有关。已针对该基因描述了编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2013 年 7 月]

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]

RFXANK 基因产物(10)

mRNA	Protein	Name
NM_001278727.2	NP_001265656.1	DNA-binding protein RFXANK isoform c
NM_001278728.2	NP_001265657.1	DNA-binding protein RFXANK isoform b
NM_001370233.1	NP_001357162.1	DNA-binding protein RFXANK isoform a
NM_001370234.1	NP_001357163.1	DNA-binding protein RFXANK isoform c
NM_001370235.1	NP_001357164.1	DNA-binding protein RFXANK isoform d
NM_001370236.1	NP_001357165.1	DNA-binding protein RFXANK isoform d
NM_001370237.1	NP_001357166.1	DNA-binding protein RFXANK isoform e
NM_001370238.1	NP_001357167.1	DNA-binding protein RFXANK isoform f
NM_003721.4	NP_003712.1	DNA-binding protein RFXANK isoform a
NM_134440.3	NP_604389.1	DNA-binding protein RFXANK isoform b

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
contributes to DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	9806546	GOA
contributes to 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

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

RFXANK 蛋白结构

Ank_2

0
100
200
260 a.a.

蛋白主名

其他名称

DNA-binding protein RFXANK

RFX-Bdelta4

RFXANK 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	RFXANK	O14593	RFX7	Homo sapiens	Q2KHR2	X-Ray Diffraction	31864703
Intra	RFXANK	O14593	RFX7	Homo sapiens	Q2KHR2	Anti Tag CoIP	33961781
Intra	RFXANK	O14593	RFX7	Homo sapiens	Q2KHR2	Anti Tag CoIP	25752541
Intra	RFXANK	O14593	RFXAP	Homo sapiens	O00287	Anti Tag CoIP	33961781
Intra	RFXANK	O14593	RFXAP	Homo sapiens	O00287	Pull Down	10938133
Intra	RFXANK	O14593	RFXAP	Homo sapiens	O00287	Anti Tag CoIP	25752541
Intra	RFXANK	O14593	RFX5	Homo sapiens	P48382	Anti Tag CoIP	33961781
Intra	RFXANK	O14593	RFX5	Homo sapiens	P48382	Anti Tag CoIP	25752541
Intra	RFXANK	O14593	RFX5	Homo sapiens	P48382	Pull Down	10938133

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

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

Severe Combined Immunodeficiency

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

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

Retinitis Pigmentosa 48

RP48	Retinitis Pigmentosa, Type 48

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

Immunodeficiency 13

Idiopathic Cd4 Lymphopenia	IMD13
Icl	Immunodeficiency, Type 13

Omenn Syndrome

Histiocytic Medullary Reticulosis	Severe Combined Immunodeficiency With Hypereosinophilia
Combined Immunodeficiency With Hypereosinophilia	Reticuloendotheliosis, Familial, With Eosinophilia
Reticuloendotheliosis Familial With Eosinophilia	Familial Reticuloendotheliosis
Omenn'S Syndrome	OS
Malignant Histiocytosis

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-RS11887	RFXANK Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	RFXANK	VGNC	VGNC:33900
Rattus norvegicus	RFXANK	RGD	RGD:1311390
Macaca mulatta	RFXANK	VGNC	VGNC:76910
Mus musculus	RFXANK	MGD	MGI:1333865
Canis familiaris	RFXANK	VGNC	VGNC:45511
Felis catus	RFXANK	VGNC	VGNC:69308

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 © 2013-2024 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

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）

RFXANK - regulatory factor X associated ankyrin containing protein Gene

关于 RFXANK

功能概要

RFXANK 基因产物(10)

RFXANK 蛋白结构

RFXANK 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

RFXANK - regulatory factor X associated ankyrin containing protein Gene

关于 RFXANK

功能概要

RFXANK 基因产物(10)

RFXANK 蛋白结构

RFXANK 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z