RFXAP
entrez
5994
canonical
uniprot
O00287
canonical
ensembl
ENSG00000133111
resolver
ensp
ENSP00000255476
resolver
enst
ENST00000255476
resolver
genesymbol
RFXAP
resolver
hgnc
HGNC:9988
resolver
uniprot
B2R9T8
resolver
uniprot
Q5VZM6
resolver
uniprot
Q8TC40
resolver
uniprot_entry
RFXAP_HUMAN
resolver
uniprot_sec
B2R9T8
resolver
uniprot_sec
Q5VZM6
resolver
uniprot_sec
Q8TC40
resolver
amino_acid_sequence
MEAQGVAEGAGPGAASGVPHPAALAPAAAPTLAPASVAAAASQFTLLVMQPCAGQDEAAAPGGSVGAGKPVRYLCEGAGDGEEEAGEDEADLLDTSDPPGGGESAASLEDLEDEETHSGGEGSSGGARRRGSGGGSMSKTCTYEGCSETTSQVAKQRKPWMCKKHRNKMYKDKYKKKKSDQALNCGGTASTGSAGNVKLEESADNILSIVKQRTGSFGDRPARPTLLEQVLNQKRLSLLRSPEVVQFLQKQQQLLNQQVLEQRQQQFPGTSM
uniprot
proteins
disease_involvement
DISEASE: MHC class II deficiency 4 (MHC2D4) [MIM:620817]: An autosomal recessive disorder characterized by immunodeficiency, failure to thrive, and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Patients may die in infancy or early childhood. {ECO:0000269|PubMed:10072068, ECO:0000269|PubMed:37584719, ECO:0000269|PubMed:9118943}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Part of the RFX complex that binds to the X-box of MHC II promoters.
uniprot
proteins
mass_dalton
28232
uniprot
proteins
post_translational_modification
PTM: Phosphorylated.
uniprot
proteins
pubmed
10072068
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20732328
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
37584719
uniprot
proteins
pubmed
9118943
uniprot
proteins
sequence_length
272
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins