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  2. RFX3 - regulatory factor X3 Gene

RFX3 - regulatory factor X3 Gene

中文名称:调节因子 X3

种属: Homo sapiens

基因 ID: 5991 | 基因类型: protein coding

关于 RFX3

Cytogenetic location: 9p24.2 Genomic coordinates (GRCh38): 9:3,218,297-3,526,001 (from NCBI)

This gene has 12 transcripts (splice variants), 207 orthologues and 7 paralogues. Broad expression in testis (RPKM 2.7), brain (RPKM 2.6) and 24 other tissues.

功能概要

该基因是调节因子 X 基因家族的成员,它编码的转录因子包含一个高度保守的有翼螺旋 DNA 结合域。该基因编码的蛋白质在结构上与调节因子 X1、X2、X4 和 X5 相关。它是一种转录激活剂,可以作为单体或作为异源二聚体与其他 RFX 家族成员结合 DNA。已针对该基因描述了编码不同亚型的多个转录变体。[RefSeq 提供,2013 年 8 月]

This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]

RFX3 基因产物(5)

mRNA Protein Name
NM_001282116.2 NP_001269045.1 transcription factor RFX3 isoform b
NM_001282117.2 NP_001269046.1 transcription factor RFX3 isoform c
NM_001377999.1 NP_001364928.1 transcription factor RFX3 isoform d
NM_002919.4 NP_002910.1 transcription factor RFX3 isoform a
NM_134428.3 NP_602304.1 transcription factor RFX3 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
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
enables transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
20148032 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12411430 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
20148032 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
20413507 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

RFX3 蛋白结构

RFX1_trans_act

RFX1_trans_act: RFX1 transcription activation region (1 - 139)

RFX_DNA_binding

RFX_DNA_binding: RFX DNA-binding domain (176 - 259)

  • 0
  • 200
  • 400
  • 600
  • 749 a.a.
蛋白主名 其他名称

transcription factor RFX3

DNA binding protein RFX3

RFX3 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 RFX3 P48380 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra RFX3 P48380 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Intra RFX3 P48380 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra RFX3 P48380 TRAF2 Homo sapiens Q12933
Validated Y2H
32296183
Intra RFX3 P48380 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra RFX3 P48380 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra RFX3 P48380 TRAF2 Homo sapiens Q12933
Y2H Pooling
16189514
Intra RFX3 P48380 FHL2 Homo sapiens Q14192
Y2H Array
31515488
Intra RFX3 P48380 FHL2 Homo sapiens Q14192
Validated Y2H
32296183
Intra RFX3 P48380 FHL2 Homo sapiens Q14192
Y2H Array
25416956
Intra RFX3 P48380 FHL2 Homo sapiens Q14192
Y2H Prey Pooling
32296183
Intra RFX3 P48380 FHL2 Homo sapiens Q14192
Y2H Array
32296183
Intra RFX3 P48380 FHL3 Homo sapiens Q13643
Validated Y2H
25416956
Intra RFX3 P48380 FHL3 Homo sapiens Q13643
Y2H Array
31515488
Intra RFX3 P48380 TRIP6 Homo sapiens Q15654
Y2H Prey Pooling
25416956
Intra RFX3 P48380 TRIP6 Homo sapiens Q15654
Y2H Array
25416956
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
Alstrom Syndrome

ALMS

Alström Syndrome

Alss

Alstrom-Hallgren Syndrome

Alstroem Syndrome

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 2

PKD2

Polycystic Kidney Disease, Adult, Type Ii

Apkd2

Polycystic Kidney Disease, Type 2

Adpkd2

Adult Polycystic Kidney Disease Type 2

Autosomal Dominant Polycystic Kidney Disease 2

Pkd-2

Polycystic Kidney Disease Adult Type Ii

Polycystic Kidney Type 2 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 2

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris RFX3 VGNC VGNC:45505
Felis catus RFX3 VGNC VGNC:69305
Mus musculus RFX3 MGD MGI:106582
Bos taurus RFX3 VGNC VGNC:33895
Rattus norvegicus RFX3 RGD RGD:1307779
Macaca mulatta RFX3 VGNC VGNC:76908