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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 (Regulatory Factor X Associated Protein) is a Protein Coding gene. Diseases associated with RFXAP include Bare Lymphocyte Syndrome, Type Ii and Severe Combined Immunodeficiency. Among its related pathways are Tuberculosis and Primary immunodeficiency. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription coactivator activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | contributes_to transcription regulatory region sequence-specific DNA binding | IDA | 9806546 |
GO:0003677 | DNA binding | TAS,IBA | 21873635 |
GO:0003700 | DNA-binding transcription factor activity | NAS | -- |
GO:0003713 | transcription coactivator activity | TAS,IDA | 9118943 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005667 | transcription factor complex | IPI | 9806546 |
GO:0016607 | nuclear speck | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection | ||
2 | Primary immunodeficiency | ||
3 | Tuberculosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0045893 | positive regulation of transcription, DNA-templated | IBA | 21873635 |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA, IMP | 9118943 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RFXAP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RFXAP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RFXAP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rfxap 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rfxap 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RFXAP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RFXAP 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RFXAP 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.30365 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.20047 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rfxap 31 |
|
OneToOne | |
Dr.12444 30 |
|
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636400 | Uncertain Significance: not provided | 36,819,716(+) | G/A | MISSENSE_VARIANT | |
636582 | Uncertain Significance: not provided | 36,819,591(+) | C/A | SYNONYMOUS_VARIANT | |
643242 | Uncertain Significance: Bare lymphocyte syndrome 2 | 36,819,371(+) | G/T | MISSENSE_VARIANT | |
644661 | Uncertain Significance: Bare lymphocyte syndrome 2 | 36,819,486(+) | A/G | SYNONYMOUS_VARIANT | |
645743 | Uncertain Significance: Bare lymphocyte syndrome 2 | 36,819,593(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
bare lymphocyte syndrome, type ii |
|
|
severe combined immunodeficiency |
|
|
retinitis pigmentosa 48 |
|
|
immune deficiency disease |
|
|
bare lymphocyte syndrome, type i |
|
|