InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RFXANK

Summary

InnateDB Protein

IDBP-245888.7

Last Modified

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

Gene Symbol

RFXANK

Protein Name

regulatory factor X-associated ankyrin-containing protein

Synonyms

ANKRA1; BLS; F14150_1; RFX-B;

Species

Homo sapiens

Ensembl Protein

ENSP00000376138

InnateDB Gene

IDBG-39533 (RFXANK)

Protein Structure

UniProt Annotation

Function

Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes.

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:10725724, ECO:0000269PubMed:9806546}. 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 25 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	24 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003712	transcription cofactor activity
GO:0005515	protein binding