InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RFXAP

Summary

InnateDB Protein

IDBP-24578.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RFXAP

Protein Name

regulatory factor X-associated protein

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000255476

InnateDB Gene

IDBG-24576 (RFXAP)

Protein Structure

UniProt Annotation

Function

Part of the RFX complex that binds to the X-box of MHC II promoters.

Subcellular Localization

Nucleus.

Disease Associations

Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon- gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. {ECO:0000269PubMed:10072068, ECO:0000269PubMed:9118943}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003713	transcription coactivator activity