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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11883	RFX5 Human Pre-designed siRNA Set A		/	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