InnateDB Protein
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IDBP-388518.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RFX5
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Protein Name
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regulatory factor X, 5 (influences HLA class II expression)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000389130
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InnateDB Gene
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IDBG-102358 (RFX5)
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Protein Structure
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Function |
Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters.
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Subcellular Localization |
Nucleus.
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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:10825209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
29
[view]
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Protein-Protein |
21
[view]
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Protein-DNA |
8
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003150
DNA-binding RFX-type winged-helix domain
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PFAM |
PF02257
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P48382
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PhosphoSite |
PhosphoSite-P48382
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TrEMBL |
Q9UG77
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UniProt Splice Variant |
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Entrez Gene |
5993
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UniGene |
Hs.715129
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RefSeq |
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HUGO |
HGNC:9986
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OMIM |
601863
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CCDS |
CCDS994
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HPRD |
03517
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IMGT |
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EMBL |
AL050135
AL391069
BC017471
CH471121
X85786
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GenPept |
AAH17471
CAA59771
CAB43285
CAH70327
EAW53446
EAW53447
EAW53448
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