RFXANK - regulatory factor X associated ankyrin containing protein Gene

Also Known as BLS; RFX-B; ANKRA1; F14150_1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8625

About RFXANK

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,192,258-19,201,866 (from NCBI)

This gene has 15 transcripts (splice variants), 188 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 13.0), bone marrow (RPKM 11.7) and 25 other tissues.

Summary

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]

RFXANK Products (10)

mRNA	Protein	Name
NM_001278727.2	NP_001265656.1	DNA-binding protein RFXANK isoform c
NM_001278728.2	NP_001265657.1	DNA-binding protein RFXANK isoform b
NM_001370233.1	NP_001357162.1	DNA-binding protein RFXANK isoform a
NM_001370234.1	NP_001357163.1	DNA-binding protein RFXANK isoform c
NM_001370235.1	NP_001357164.1	DNA-binding protein RFXANK isoform d
NM_001370236.1	NP_001357165.1	DNA-binding protein RFXANK isoform d
NM_001370237.1	NP_001357166.1	DNA-binding protein RFXANK isoform e
NM_001370238.1	NP_001357167.1	DNA-binding protein RFXANK isoform f
NM_003721.4	NP_003712.1	DNA-binding protein RFXANK isoform a
NM_134440.3	NP_604389.1	DNA-binding protein RFXANK isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9806546	GOA
contributes to 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

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

RFXANK Protein Structure

Ank_2

0
100
200
260 a.a.

Protein Preferred Names	Protein Names
DNA-binding protein RFXANK	RFX-Bdelta4

RFXANK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RFXANK	O14593	RFX7	Homo sapiens	Q2KHR2	X-Ray Diffraction	31864703
Intra	RFXANK	O14593	RFX7	Homo sapiens	Q2KHR2	Anti Tag CoIP	33961781
Intra	RFXANK	O14593	RFX7	Homo sapiens	Q2KHR2	Anti Tag CoIP	25752541
Intra	RFXANK	O14593	RFXAP	Homo sapiens	O00287	Anti Tag CoIP	33961781
Intra	RFXANK	O14593	RFXAP	Homo sapiens	O00287	Pull Down	10938133
Intra	RFXANK	O14593	RFXAP	Homo sapiens	O00287	Anti Tag CoIP	25752541
Intra	RFXANK	O14593	RFX5	Homo sapiens	P48382	Anti Tag CoIP	33961781
Intra	RFXANK	O14593	RFX5	Homo sapiens	P48382	Anti Tag CoIP	25752541
Intra	RFXANK	O14593	RFX5	Homo sapiens	P48382	Pull Down	10938133

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
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
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
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
Retinitis Pigmentosa 48	RP48 Retinitis Pigmentosa, Type 48
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
Immunodeficiency 13	Idiopathic Cd4 Lymphopenia IMD13 Icl Immunodeficiency, Type 13
Omenn Syndrome	Histiocytic Medullary Reticulosis Severe Combined Immunodeficiency With Hypereosinophilia Combined Immunodeficiency With Hypereosinophilia Reticuloendotheliosis, Familial, With Eosinophilia Reticuloendotheliosis Familial With Eosinophilia Familial Reticuloendotheliosis Omenn'S Syndrome OS Malignant Histiocytosis

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11887	RFXANK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RFXANK	VGNC	VGNC:33900
Rattus norvegicus	RFXANK	RGD	RGD:1311390
Macaca mulatta	RFXANK	VGNC	VGNC:76910
Mus musculus	RFXANK	MGD	MGI:1333865
Canis familiaris	RFXANK	VGNC	VGNC:45511
Felis catus	RFXANK	VGNC	VGNC:69308
Others	RFXANK	NCBI