Regulatory factor X-associated protein deficiency

Gene Information

Names

HUGO name: RFXAP

Alias(es):

  • regulatory factor X-associated protein
  • Regulatory factor X-associated protein (RFX DNA-binding complex 36 kDa subunit) (RFX-associated protein)

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Part of the RFX complex that binds to the x-box of MHC II promoters

Subunit:

RFX consists of at least 3 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

Post-translational modification:

Phosphorylated

Structures (PDB)

Domains

Poly-ala domain: 38-41

    Poly-lys domain: 171-178

      Nuclear localization signal domain: 163-178

        Other features

        Expression

        Expression pattern for human

        Tissue Expression (%) Clones
        hepatocellular carcinoma 21.14 8:13916
        retina 14.50 3:7607
        2 pooled high-grade transitional cell tumors 9.55 1:3850
        fibrosarcoma 9.32 1:3946
        lymphoma, follicular mixed small and large cell 7.89 2:9317
        testis 7.06 1:5207
        from acute myelogenous leukemia 6.14 1:5984
        cochlea 4.05 1:9090
        placenta 3.46 1:10629
        B-cell, chronic lymphotic leukemia 3.20 1:11493

        Animal models

        Fly

        C. elegans