country

Change Language

EN - English
FR - Français
DE - Deutsch
ES - Español
JA - 日本語
KO - 한국어

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

RFXAP - regulatory factor X associated protein Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5994

About RFXAP

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:36,819,222-36,829,104 (from NCBI)

This gene has 2 transcripts (splice variants), 190 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 3.9), brain (RPKM 3.7) 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 ankyrin-containing 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. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]

RFXAP Products (1)

mRNA	Protein	Name
NM_000538.4	NP_000529.1	regulatory factor X-associated protein

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	9118943	GOA
contributes to RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9118943	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
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	9118943	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of RNA polymerase II transcription regulator complex	IPI IPI: Inferred from physical interaction	9118943	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

RFXAP Protein Structure

RFXA_RFXANK_bdg

0
100
200
272 a.a.

Protein Preferred Names	Protein Names
regulatory factor X-associated protein	RFX DNA-binding complex 36 kDa subunit

RFXAP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RFXAP	O00287	RFX5	Homo sapiens	P48382	Solution NMR	20732328

Cross: Cross-species interaction Intra: Intraspecies interaction

RFXAP Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810058	RFXAP Antibody (YA9402)	WB, IP	human

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
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

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-RS11888	RFXAP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RFXAP	VGNC	VGNC:33901
Rattus norvegicus	RFXAP	RGD	RGD:1565351
Felis catus	RFXAP	VGNC	VGNC:102306
Macaca mulatta	RFXAP	VGNC	VGNC:76911
Canis familiaris	RFXAP	VGNC	VGNC:59092
Mus musculus	RFXAP	MGD	MGI:2180854
Others	RFXAP	NCBI