2. Gene
  3. RFX1 - regulatory factor X1 Gene

RFX1 - regulatory factor X1 Gene

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

中文名称：调节因子 X1

种属: Homo sapiens

同用名: EFC; RFX

基因 ID: 5989 | 基因类型: protein coding

关于 RFX1

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:13,961,530-14,006,816 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 254 orthologues and 7 paralogues. Broad expression in testis (RPKM 5.4), spleen (RPKM 2.7) and 25 other tissues.

功能概要

该基因编码转录因子调节因子 X (RFX) 家族的成员，其特征是有翼螺旋 DNA 结合域。编码的转录因子包含一个 N 端激活域和一个 C 端抑制域，并且可以根据细胞环境激活或抑制靶基因表达。这种转录因子已被证明可以调节多种与免疫和癌症有关的基因，包括 MHC II 类基因和可能与癌症进展有关的基因。该基因在胶质母细胞瘤和自身免疫性疾病系统性红斑狼疮 (SLE) 中表现出改变的表达。[RefSeq 提供，2016 年 7 月]

This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and Cancer, including the MHC class II genes and genes that may be involved in Cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]

RFX1 基因产物(1)

mRNA Protein Name
NM_002918.5 NP_002909.4 MHC class II regulatory factor RFX1
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
16289097 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

RFX1 蛋白结构

RFX1_trans_act

RFX1_trans_act: RFX1 transcription activation region (216 - 375)

RFX_DNA_binding

RFX_DNA_binding: RFX DNA-binding domain (435 - 514)

  • 0
  • 200
  • 400
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  • 800
  • 979 a.a.
蛋白主名 其他名称

MHC class II regulatory factor RFX1

MHC class II regulatory factor RFX

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
Alstrom Syndrome

ALMS

Alström Syndrome

Alss

Alstrom-Hallgren Syndrome

Alstroem Syndrome
Dyslexia
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-RS11879 RFX1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus RFX1 VGNC VGNC:69303
Mus musculus RFX1 MGD MGI:105982
Macaca mulatta RFX1 VGNC VGNC:76906
Canis familiaris RFX1 VGNC VGNC:45503
Rattus norvegicus RFX1 RGD RGD:1306574
Bos taurus RFX1 VGNC VGNC:52877
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