RFX5
entrez
5993
canonical
uniprot
P48382
canonical
ensembl
ENSG00000143390
resolver
ensp
ENSP00000290524
resolver
ensp
ENSP00000376502
resolver
ensp
ENSP00000389130
resolver
ensp
ENSP00000552506
resolver
ensp
ENSP00000552509
resolver
ensp
ENSP00000609376
resolver
ensp
ENSP00000609377
resolver
ensp
ENSP00000609378
resolver
genesymbol
RFX5
resolver
hgnc
HGNC:9986
resolver
uniprot
B7Z848
resolver
uniprot
D3DV19
resolver
uniprot
E9PFU4
resolver
uniprot
Q5VWC3
resolver
uniprot_entry
RFX5_HUMAN
resolver
uniprot_sec
B7Z848
resolver
uniprot_sec
D3DV19
resolver
uniprot_sec
E9PFU4
resolver
uniprot_sec
Q5VWC3
resolver
amino_acid_sequence
MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPLARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGALKVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPGRAPPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKAAKQDIEDTASDAKRKRGRPRKKSGGSGERNSTPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAEKGAVLAQGQGDGTVSKGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKEAFPLAKGEVDTAPQGNKDLKEHVLQSSLSQEHKDPKATPP
uniprot
proteins
disease_involvement
DISEASE: MHC class II deficiency 3 (MHC2D3) [MIM:620816]: An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Most patients die in infancy or early childhood. {ECO:0000269|PubMed:30170160, ECO:0000269|PubMed:37584719, ECO:0000269|PubMed:7744245, ECO:0000269|PubMed:9401005}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: MHC class II deficiency 5 (MHC2D5) [MIM:620818]: An autosomal recessive disorder characterized by a defect in constitutive and inducible surface expression of MHC class II molecules on B cells, monocytes, and activated T cells. Affected individuals may present in infancy with infections and hypogammaglobulinemia, but the disease course is mostly benign and patients do not develop severe infections. Some individuals may be asymptomatic. {ECO:0000269|PubMed:10825209}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
65323
uniprot
proteins
post_translational_modification
PTM: Phosphorylated.
uniprot
proteins
protein_family
RFX family
uniprot
proteins
pubmed
10072068
uniprot
proteins
pubmed
10779326
uniprot
proteins
pubmed
10825209
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20732328
uniprot
proteins
pubmed
22649097
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
30170160
uniprot
proteins
pubmed
37584719
uniprot
proteins
pubmed
7744245
uniprot
proteins
pubmed
9401005
uniprot
proteins
sequence_length
616
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins