Abstract is: Regulatory factor X-associated protein is a protein that in humans is encoded by the RFXAP gene. 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.
P594 | Ensembl gene ID | ENSG00000133111 |
P704 | Ensembl transcript ID | ENST00000255476 |
ENST00000472888 | ||
P351 | Entrez Gene ID | 5994 |
P2888 | exact match | http://identifiers.org/ncbigene/5994 |
P646 | Freebase ID | /m/03h00d6 |
P353 | HGNC gene symbol | RFXAP |
P354 | HGNC ID | 9988 |
P593 | HomoloGene ID | 452 |
P492 | OMIM ID | 601861 |
601861 | ||
P639 | RefSeq RNA ID | NM_000538 |
P2892 | UMLS CUI | C1419365 |
P1057 | chromosome | human chromosome 13 | Q840734 |
P4196 | cytogenetic location | 13q13.3 | |
P688 | encodes | Regulatory factor X associated protein | Q21134272 |
P5572 | expressed in | testicle | Q9384 |
gastric mucosa | Q383249 | ||
gonad | Q213456 | ||
ganglionic eminence | Q4133185 | ||
cerebellar hemisphere | Q5064075 | ||
ventricular zone | Q28455175 | ||
palpebral conjunctiva | Q30348886 | ||
tendon of biceps brachii | Q66527398 | ||
mucosa of paranasal sinus | Q66556195 | ||
right hemisphere of cerebellum | Q66590413 | ||
P703 | found in taxon | Homo sapiens | Q15978631 |
P2293 | genetic association | bare lymphocyte syndrome 2 | Q16838027 |
P645 | genomic end | 36829104 | |
37403241 | |||
P644 | genomic start | 36819222 | |
37393361 | |||
P684 | ortholog | Rfxap | Q18295589 |
Rfxap | Q24361206 | ||
P2548 | strand orientation | forward strand | Q22809680 |
FileName: PBB GE RFXAP 208492 at fs.png
Description: Gene expression pattern of the RFXAP gene.
Artist: AndrewGNF at English Wikipedia
Work is copyrighted.
License: CC BY-SA 3.0
Attribution is required.
FileName: PBB GE RFXAP gnf1h05933 at fs.png
Description: Gene expression pattern of the RFXAP gene.
Artist: AndrewGNF at English Wikipedia
Work is copyrighted.
License: CC BY-SA 3.0
Attribution is required.
Q27595285 | hsa-miR-106a-5p |
Q27594907 | hsa-miR-106b-5p |
Q27593084 | hsa-miR-130a-3p |
Q27594391 | hsa-miR-130b-3p |
Q27593323 | hsa-miR-17-5p |
Q27593329 | hsa-miR-20a-5p |
Q27595281 | hsa-miR-20b-5p |
Q27594593 | hsa-miR-218-5p |
Q27593811 | hsa-miR-301a-3p |
Q27594388 | hsa-miR-301b-3p |
Q27594920 | hsa-miR-3666 |
Q27593016 | hsa-miR-4295 |
Q27593810 | hsa-miR-454-3p |
Q27594102 | hsa-miR-519a-3p |
Q27594062 | hsa-miR-519b-3p |
Q27594054 | hsa-miR-519c-3p |
Q27594081 | hsa-miR-519d-3p |
Q27594087 | hsa-miR-520g-3p |
Q27594098 | hsa-miR-520h |
Q27594059 | hsa-miR-526b-3p |
Q27594905 | hsa-miR-93-5p |
Q21134272 | Regulatory factor X associated protein | encoded by | P702 |
Arabic (ar / Q13955) | RFXAP | wikipedia |
Egyptian Arabic (arz / Q29919) | RFXAP | wikipedia |
RFXAP | wikipedia | |
Tatar language (tt / Q25285) | RFXAP | wikipedia |
RFXAP | wikipedia |
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