RFXAP

protein-coding gene in the species Homo sapiens

DBpedia resource is: http://dbpedia.org/resource/RFXAP

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.

RFXAP is …
instance of (P31):
geneQ7187

sublass of (P279):
protein-coding geneQ20747295

External links are
P594Ensembl gene IDENSG00000133111
P704Ensembl transcript IDENST00000255476
ENST00000472888
P351Entrez Gene ID5994
P2888exact matchhttp://identifiers.org/ncbigene/5994
P646Freebase ID/m/03h00d6
P353HGNC gene symbolRFXAP
P354HGNC ID9988
P593HomoloGene ID452
P492OMIM ID601861
601861
P639RefSeq RNA IDNM_000538
P2892UMLS CUIC1419365

P1057chromosomehuman chromosome 13Q840734
P4196cytogenetic location13q13.3
P688encodesRegulatory factor X associated proteinQ21134272
P5572expressed intesticleQ9384
gastric mucosaQ383249
gonadQ213456
ganglionic eminenceQ4133185
cerebellar hemisphereQ5064075
ventricular zoneQ28455175
palpebral conjunctivaQ30348886
tendon of biceps brachiiQ66527398
mucosa of paranasal sinusQ66556195
right hemisphere of cerebellumQ66590413
P703found in taxonHomo sapiensQ15978631
P2293genetic associationbare lymphocyte syndrome 2Q16838027
P645genomic end36829104
37403241
P644genomic start36819222
37393361
P684orthologRfxapQ18295589
RfxapQ24361206
P2548strand orientationforward strandQ22809680

Wikimedia Commons Images

P692: Gene Atlas image


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.

P692: Gene Atlas image


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.

Reverse relations

regulates (molecular biology) (P128)
Q27595285hsa-miR-106a-5p
Q27594907hsa-miR-106b-5p
Q27593084hsa-miR-130a-3p
Q27594391hsa-miR-130b-3p
Q27593323hsa-miR-17-5p
Q27593329hsa-miR-20a-5p
Q27595281hsa-miR-20b-5p
Q27594593hsa-miR-218-5p
Q27593811hsa-miR-301a-3p
Q27594388hsa-miR-301b-3p
Q27594920hsa-miR-3666
Q27593016hsa-miR-4295
Q27593810hsa-miR-454-3p
Q27594102hsa-miR-519a-3p
Q27594062hsa-miR-519b-3p
Q27594054hsa-miR-519c-3p
Q27594081hsa-miR-519d-3p
Q27594087hsa-miR-520g-3p
Q27594098hsa-miR-520h
Q27594059hsa-miR-526b-3p
Q27594905hsa-miR-93-5p

genetic association (P2293)
Q3508735Bare lymphocyte syndrome
Q16838027bare lymphocyte syndrome 2

ortholog (P684)
Q18295589Rfxap
Q24361206Rfxap

Q21134272Regulatory factor X associated proteinencoded byP702

The articles in Wikimedia projects and languages

Arabic (ar / Q13955)RFXAPwikipedia
Egyptian Arabic (arz / Q29919)RFXAPwikipedia
      RFXAPwikipedia
Tatar language (tt / Q25285)RFXAPwikipedia
      RFXAPwikipedia

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