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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 (Regulatory Factor X1) is a Protein Coding gene. Diseases associated with RFX1 include Bare Lymphocyte Syndrome, Type Ii. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is RFX3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | TAS,ISM | 19274049 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16289097 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006955 | immune response | TAS | 1505960 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RFX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RFX1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RFX1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rfx1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rfx1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | RFX1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RFX1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RFX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rfx1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rfx1a 30 31 |
|
OneToMany | |
rfx1b 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rfx 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712861 | Benign: not provided | 13,968,622(-) | G/A | MISSENSE_VARIANT | |
714885 | Benign: not provided | 13,963,118(-) | G/A | INTRON_VARIANT | |
718107 | Likely Benign: not provided | 13,966,537(-) | C/T | INTRON_VARIANT | |
718304 | Benign: not provided | 13,963,975(-) | C/T | SYNONYMOUS_VARIANT | |
718305 | Benign: not provided | 13,973,025(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
bare lymphocyte syndrome, type ii |
|