2. Gene
  3. RFXAP - regulatory factor X associated protein Gene

RFXAP - regulatory factor X associated protein Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：调节因子 X 相关蛋白

种属: Homo sapiens

基因 ID: 5994 | 基因类型: protein coding

关于 RFXAP

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:36,819,222-36,829,104 (from NCBI)

This gene has 2 transcripts (splice variants), 190 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 3.9), brain (RPKM 3.7) 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 相关的含锚蛋白和调节因子 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。该基因的突变与 II 型裸淋巴细胞综合征、互补组 D 相关。已发现该基因利用不同 polyA 信号的转录变体。[RefSeq 提供，2008 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 ankyrin-containing 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. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]

RFXAP 基因产物(1)

mRNA Protein Name
NM_000538.4 NP_000529.1 regulatory factor X-associated 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
contributes to DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
9118943 GOA
contributes to RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
9118943 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
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
9118943 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
9118943 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

RFXAP 蛋白结构

RFXA_RFXANK_bdg

RFXA_RFXANK_bdg: Regulatory factor X-associated C-terminal binding domain (140 - 268)

  • 0
  • 100
  • 200
  • 272 a.a.
蛋白主名 其他名称

regulatory factor X-associated protein

RFX DNA-binding complex 36 kDa subunit

RFXAP 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 RFXAP O00287 RFX5 Homo sapiens P48382
Solution NMR
20732328
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
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11888 RFXAP 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 RFXAP VGNC VGNC:33901
Rattus norvegicus RFXAP RGD RGD:1565351
Felis catus RFXAP VGNC VGNC:102306
Macaca mulatta RFXAP VGNC VGNC:76911
Canis familiaris RFXAP VGNC VGNC:59092
Mus musculus RFXAP MGD MGI:2180854
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z