RFXAP

GENE INFORMATION

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Gene name

RFXAP

Synonyms

Description

Regulatory factor X-associated protein (HGNC Symbol)

Entrez gene summary

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]

Chromosome

13

Cytoband

q13.3

Chromosome location (bp)

36819224 - 36829104

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000133111 (version 78.38)

Entrez gene

5994

UniProt

O00287 (UniProt - Evidence at protein level)

neXtProt

NX_O00287

Antibodypedia

RFXAP antibodies
 

PROTEIN VIEW

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RFXAP-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RFXAP-001 ENSP00000255476
ENST00000255476
O00287
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