1. Gene
  2. RFX5 - regulatory factor X5 Gene

RFX5 - regulatory factor X5 Gene

Homo sapiens
Gene ID: 5993 | Gene type: protein coding

About RFX5

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,340,640-151,347,252 (from NCBI)

This gene has 21 transcripts (splice variants), 196 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 26.5), spleen (RPKM 21.2) and 24 other tissues.

Summary

A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]

RFX5 Products(11)

mRNA Protein Name
NM_000449.4 NP_000440.1 DNA-binding protein RFX5 isoform 1
NM_001025603.2 NP_001020774.1 DNA-binding protein RFX5 isoform 1
NM_001379412.1 NP_001366341.1 DNA-binding protein RFX5 isoform 1
NM_001379413.1 NP_001366342.1 DNA-binding protein RFX5 isoform 1
NM_001379414.1 NP_001366343.1 DNA-binding protein RFX5 isoform 1
NM_001379415.1 NP_001366344.1 DNA-binding protein RFX5 isoform 1
NM_001379416.1 NP_001366345.1 DNA-binding protein RFX5 isoform 1
NM_001379417.1 NP_001366346.1 DNA-binding protein RFX5 isoform 1
NM_001379418.1 NP_001366347.1 DNA-binding protein RFX5 isoform 1
NM_001379419.1 NP_001366348.1 DNA-binding protein RFX5 isoform 2
NM_001379420.1 NP_001366349.1 DNA-binding protein RFX5 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
10586057 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IGI
IGI: Inferred from genetic interaction
9806546 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9806546 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10938133 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
23332764 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9806546 GOA
Cellular Component GO Annotation Evidence Reference Source
part of RNA polymerase II transcription regulator complex IPI
IPI: Inferred from physical interaction
9806546 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10938133 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

RFX5 Protein Structure

RFX_DNA_binding

RFX_DNA_binding: RFX DNA-binding domain (87 - 168)

RFX5_DNA_bdg

RFX5_DNA_bdg: RFX5 DNA-binding domain (396 - 614)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 616 a.a.
Protein Preferred Names Protein Names

DNA-binding protein RFX5

regulatory factor X 5

RFX5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
RFX5 P48382 RFXANK Homo sapiens O14593
Y2H Array
20211142
Intra
RFX5 P48382 RFXANK Homo sapiens O14593
Pull Down
10938133
Intra
RFX5 P48382 RFXANK Homo sapiens O14593
Anti Bait CoIP
10938133
Intra
RFX5 P48382 HDAC2 Homo sapiens Q92769
Anti Tag CoIP
16464847
Intra
RFX5 P48382 RFXAP Homo sapiens O00287
Anti Bait CoIP
10938133
Intra
RFX5 P48382 RFXAP Homo sapiens O00287
Anti Tag CoIP
33961781
Intra
RFX5 P48382 RFXAP Homo sapiens O00287
Pull Down
10938133
Intra
RFX5 P48382 RFXAP Homo sapiens O00287
Anti Tag CoIP
26496610
Intra
RFX5 P48382 RFXAP Homo sapiens O00287
Anti Tag CoIP
28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Immunodeficiency 12

Combined Immunodeficiency Due To Malt1 Deficiency

IMD12

Immunodeficiency, Type 12

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

Prion Disease

Spongiform Encephalopathy

Transmissible Spongiform Encephalopathies

Prion Diseases

Prion Disease Pathway

Transmissible Spongiform Encephalopathy

Prion Induced Disorder

Prion Protein Disease

Inherited Human Transmissible Spongiform Encephalopathies

Prion Protein Diseases

Prion-Associated Disorders

Prion-Induced Disorders

Transmissible Dementias

Tses

Human Prion Disease

Tse

Encephalopathy, Transmissible Spongiform

Prion Disease, Susceptibility To

Spongiform Encephalopathies

Human Transmissible Spongiform Encephalopathies, Inherited

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
Mus musculus RFX5 MGD MGI:1858421
Bos taurus RFX5 VGNC VGNC:33897
Felis catus RFX5 VGNC VGNC:69307
Rattus norvegicus RFX5 RGD RGD:1311677
Canis familiaris RFX5 VGNC VGNC:45507
Macaca mulatta RFX5 VGNC VGNC:106483