RFX3 - regulatory factor X3 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5991

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
20148032 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12411430 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
20148032 GOA
Cellular Component GO Annotation Evidence References Source
located in chromatin IDA
IDA: Inferred from direct assay
20413507 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RFX3 Protein Structure

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.
Protein Preferred Names Protein Names

transcription factor RFX3

  • DNA binding protein RFX3

RFX3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RFX3 P48380 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
RFX3 P48380 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
RFX3 P48380 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
RFX3 P48380 TRAF2 Homo sapiens Q12933 32296183
Intra
RFX3 P48380 TRAF2 Homo sapiens Q12933 32296183
Intra
RFX3 P48380 TRAF2 Homo sapiens Q12933 32296183
Intra
RFX3 P48380 TRAF2 Homo sapiens Q12933 16189514
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192 31515488
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192 32296183
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192 25416956
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192 32296183
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192 32296183
Intra
RFX3 P48380 FHL3 Homo sapiens Q13643 25416956
Intra
RFX3 P48380 FHL3 Homo sapiens Q13643 31515488
Intra
RFX3 P48380 TRIP6 Homo sapiens Q15654 25416956
Intra
RFX3 P48380 TRIP6 Homo sapiens Q15654 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others RFX3 NCBI