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RFX1 - regulatory factor X1 Gene

Also Known as EFC; RFX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5989

About RFX1

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:13,961,530-14,006,816 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 254 orthologues and 7 paralogues. Broad expression in testis (RPKM 5.4), spleen (RPKM 2.7) and 25 other tissues.

Summary

This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and Cancer, including the MHC class II genes and genes that may be involved in Cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]

RFX1 Products (1)

mRNA	Protein	Name
NM_002918.5	NP_002909.4	MHC class II regulatory factor RFX1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16289097	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	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

RFX1 Protein Structure

RFX1_trans_act

RFX_DNA_binding

0
200
400
600
800
979 a.a.

Protein Preferred Names	Protein Names
MHC class II regulatory factor RFX1	MHC class II regulatory factor RFX

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
Alstrom Syndrome	ALMS Alström Syndrome Alss Alstrom-Hallgren Syndrome Alstroem Syndrome
Dyslexia

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-RS11879	RFX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RFX1	VGNC	VGNC:69303
Mus musculus	RFX1	MGD	MGI:105982
Macaca mulatta	RFX1	VGNC	VGNC:76906
Canis familiaris	RFX1	VGNC	VGNC:45503
Rattus norvegicus	RFX1	RGD	RGD:1306574
Bos taurus	RFX1	VGNC	VGNC:52877
Others	RFX1	NCBI