• Gene id: 8625

Gene Summary

• Gene Symbol: RFXANK   Gene   UCSC   Ensembl
• Aliases: ANKRA1, BLS, F14150_1, RFX-B
• Gene name: regulatory factor X associated ankyrin containing protein
• Alternate names: DNA-binding protein RFXANK, RFX-Bdelta4, ankyrin repeat family A protein 1, ankyrin repeat-containing regulatory factor X-associated protein, regulatory factor X subunit B,
• Gene location: 19p13.11 (19192198: 19201868)     Exons: 13     NC_000019.10
• Gene summary(Entrez): 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 facto
• OMIM: 617363

Protein Summary

• Protein general information: O14593  
  • Name: DNA binding protein RFXANK (Ankyrin repeat family A protein 1) (Regulatory factor X subunit B) (RFX B) (Regulatory factor X associated ankyrin containing protein)
  • Length: 260  
  • Mass: 28102
  • Tissue specificity: Ubiquitous.
• Sequence:

  MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQAGSSLKHSTTLTN
  RQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADP
  HILAKERESALSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYT
  PMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR017362  
  • Prosite: PS50297 PS50088
  • PDB: 3UXG 3V30 6MEW
  • PDBsum: 3UXG 3V30 6MEW
  • STRING: ENSP00000305071
• Other Databases: GeneCards:  RFXANK  Malacards:  RFXANK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007265	Ras protein signal transduction	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	contributes to
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05152	Tuberculosis
hsa04612	Antigen processing and presentation
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
Bare lymphocyte syndrome type2	KEGG:H00985
Combined immunodeficiency	KEGG:H00093
Bare lymphocyte syndrome type2	KEGG:H00985
severe combined immunodeficiency	PMID:12618906
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray