RFX5 - regulatory factor X5 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5993

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	References	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	References	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9806546	GOA

Cellular Component GO Annotation	Evidence	References	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

RFX5_DNA_bdg

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	References
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11883	RFX5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22301	Rfx5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28824	Rfx5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	RFX5	NCBI