RFXANK, Ankyrin repeat containing regulatory factor X-associated protein deficiency

Gene Information

Names

HUGO name: RFXANK

Alias(es):

  • ANKRA1
  • BLS
  • RFX-B
  • RFXB
  • regulatory factor X-associated ankyrin-containing protein
  • DNA-binding protein RFXANK
  • Regulatory factor X subunit B

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein 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. Isoform RFX-b-delta5 is not involved in the positive regulation of MHC class II genes.

Subunit:

RFX consists of at least three different subunits; RFXAP, RFX5 and RFX-b/RFXANK; with each subunit representing a separate complementation group. RFX forms cooperative DNA binding complexes with x2bp and cbf/nf-y. RFX associates with CIITA to form an active transcriptional complex.

Subcellular location:

Nuclear

Alternative products:

2 isoforms; a long form and RFX-b-delta5; are produced by alternative splicing

Expression

Expression pattern for human

Tissue Expression (%) Clones
skin, epithelium 14.65 1:351
nasopharynx 7.96 1:646
head and neck 5.39 1:954
adipose, white adipose tissue 5.21 1:987
lung with fibrosis 3.48 1:1479
synovial membrane 3.39 1:1518
human lung epithelial cell lines untreated lps 6hr to lps 2.46 3:6278
ovary (pool of 3) 2.35 2:4380
colon, 2 pooled adenocarcinomas 2.33 4:8815
blood 2.03 5:12646

Animal models

Mouse

Fly

C. elegans