RFXANK
entrez
8625
canonical
uniprot
O14593
canonical
ensembl
ENSG00000064490
resolver
ensp
ENSP00000305071
resolver
ensp
ENSP00000376138
resolver
ensp
ENSP00000384572
resolver
ensp
ENSP00000409138
resolver
ensp
ENSP00000562652
resolver
ensp
ENSP00000562653
resolver
ensp
ENSP00000562654
resolver
ensp
ENSP00000562655
resolver
ensp
ENSP00000562657
resolver
ensp
ENSP00000596841
resolver
ensp
ENSP00000596843
resolver
ensp
ENSP00000613535
resolver
enst
ENST00000392324
resolver
enst
ENST00000892598
resolver
enst
ENST00000926782
resolver
genesymbol
RFXANK
resolver
genesymbol_syn
ANKRA1
resolver
genesymbol_syn
RFXB
resolver
hgnc
HGNC:9987
resolver
uniprot
A0A024R7P0
resolver
uniprot
O95839
resolver
uniprot
Q24JQ1
resolver
uniprot
Q6FGA8
resolver
uniprot_entry
A0A024R7P0_HUMAN
resolver
uniprot_entry
RFXK_HUMAN
resolver
uniprot_sec
O95839
resolver
uniprot_sec
Q24JQ1
resolver
uniprot_sec
Q6FGA8
resolver
amino_acid_sequence
MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQAGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE
uniprot
proteins
disease_involvement
DISEASE: MHC class II deficiency 2 (MHC2D2) [MIM:620815]: An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections in early infancy. Additional manifestations include failure to thrive, chronic diarrhea, and autoimmune features and allergies that may be present in some patients. Death often occurs in infancy or early childhood. {ECO:0000269|PubMed:10072068, ECO:0000269|PubMed:10725724, ECO:0000269|PubMed:22649097, ECO:0000269|PubMed:30170160, ECO:0000269|PubMed:37584719, ECO:0000269|PubMed:9806546}. 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. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:10072068, PubMed:10725724, PubMed:9806546). May also potentiate the activation of RAF1 (By similarity). {ECO:0000250|UniProtKB:Q9Z205, ECO:0000269|PubMed:10072068, ECO:0000269|PubMed:10725724, ECO:0000269|PubMed:9806546}.; FUNCTION: Isoform 2 is not involved in the positive regulation of MHC class II genes. {ECO:0000269|PubMed:10072068}.
uniprot
proteins
mass_dalton
28102
uniprot
proteins
mutagenesis
MUTAGEN 121; /note="D->V: Loss of expression."; /evidence="ECO:0000269|PubMed:22649097"; MUTAGEN 224; /note="Y->A: Loss of interaction with RFX5."; /evidence="ECO:0000269|PubMed:22649097
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by RAF1. {ECO:0000250|UniProtKB:Q9Z205}.
uniprot
proteins
pubmed
10072068
uniprot
proteins
pubmed
10725724
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20732328
uniprot
proteins
pubmed
22649097
uniprot
proteins
pubmed
25752541
uniprot
proteins
pubmed
30170160
uniprot
proteins
pubmed
37584719
uniprot
proteins
pubmed
9806546
uniprot
proteins
sequence_length
260
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9Z205}. Nucleus {ECO:0000250|UniProtKB:Q9Z205}.
uniprot
proteins