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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. 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,NAS | 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: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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | RFX1 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | RFX1 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Rfx1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Rfx1 32 |
|
||
cow (Bos Taurus) |
Mammalia | RFX1 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | RFX1 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | RFX1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | rfx1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | rfx1a 33 32 |
|
OneToMany | |
rfx1b 33 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | Rfx 33 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs766888168 | benign, Abnormality of neuronal migration | 13,963,151(-) | C/T | coding_sequence_variant, missense_variant | |
rs1000005785 | -- | 13,983,709(-) | C/T | intron_variant | |
rs1000032415 | -- | 14,003,291(-) | CC/C | genic_upstream_transcript_variant, intron_variant | |
rs1000174432 | -- | 13,988,592(-) | T/C | intron_variant | |
rs1000199008 | -- | 13,992,824(-) | AAA/A | intron_variant |