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GeneQ18031112· pop 5· linked from 6 articles

Also known as regulatory factor X associated protein

Regulatory factor X-associated protein is a protein that in humans is encoded by the RFXAP gene.

Gene data

RFXAP
Name
regulatory factor X associated protein
Type
protein-coding
Position
36,819,188–36,848,169 (+)
Aliases
MHC2D4
RefSeq RNA
NM_000538.4
RefSeq protein
NP_000529.1

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].

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regulatory factor X associated protein

Symbol
RFXAP
Biotype
Protein coding
Organism
Homo sapiens
Location
13:36,819,188-36,848,169
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

~1 min read

Encyclopedic overview

3 sections
Contents
  • Interactions
  • References
  • Further reading

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.

Excerpted from Wikipedia’s “RFXAP” article, available under the CC BY-SA 4.0 licence.

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