RFXANK

DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene.^[5][6][7]

RFXANK
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3UXG, 3V30, 4QQM
Identifiers
Aliases	RFXANK, ANKRA1, BLS, F14150_1, RFX-B, regulatory factor X associated ankyrin containing protein
External IDs	OMIM: 603200; MGI: 1333865; HomoloGene: 2760; GeneCards: RFXANK; OMA:RFXANK - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.11 Start 19,192,229 bp[1] End 19,201,869 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 B3.3 Start 70,583,444 bp[2] End 70,591,804 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon right uterine tube right lobe of thyroid gland ventricular zone left lobe of thyroid gland olfactory zone of nasal mucosa granulocyte canal of the cervix apex of heart right ovary Top expressed in granulocyte blood interventricular septum cardiac muscle tissue of left ventricle gastric mucosa duodenum lumbar subsegment of spinal cord epithelium of stomach ventricular zone brown adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding transcription coregulator activity histone deacetylase binding Cellular component nucleus nucleoplasm intercellular bridge cytoplasm cytosol Biological process regulation of transcription by RNA polymerase II regulation of transcription, DNA-templated transcription, DNA-templated Ras protein signal transduction positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8625 19727 Ensembl ENSG00000064490 ENSMUSG00000036120 UniProt O14593 Q9Z205 RefSeq (mRNA) NM_001278727 NM_001278728 NM_003721 NM_134440 NM_001370233 NM_001370234 NM_001370235 NM_001370236 NM_001370237 NM_001370238 NM_001025589 NM_011266 RefSeq (protein) NP_001265656 NP_001265657 NP_003712 NP_604389 NP_001357162 NP_001357163 NP_001357164 NP_001357165 NP_001357166 NP_001357167 NP_001020760 NP_035396 Location (UCSC) Chr 19: 19.19 – 19.2 Mb Chr 8: 70.58 – 70.59 Mb PubMed search [3] [4]
Wikidata
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Function

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity.^[7]

Interactions

RFXANK has been shown to interact with RFXAP^[8][9] and CIITA.^[8][10]