• Gene id: 5993

Gene Summary

• Gene Symbol: RFX5   Gene   UCSC   Ensembl
• Gene name: regulatory factor X5
• Alternate names: DNA-binding protein RFX5, regulatory factor X 5, regulatory factor X, 5 (influences HLA class II expression),
• Gene location: 1q21.3 (151347318: 151340639)     Exons: 12     NC_000001.11
• Gene summary(Entrez): A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BL
• OMIM: 601863

Protein Summary

• Protein general information: P48382  
  • Name: DNA binding protein RFX5 (Regulatory factor X 5)
  • Length: 616  
  • Mass: 65323
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTG
  DKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARR
  LGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVE
  VARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPL
  ARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGALKVATLPLSSRAGAPP
  AAVPIINMILPTVPALPGPGPGPGRAPPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKA
  AKQDIEDTASDAKRKRGRPRKKSGGSGERNSTPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAE
  KGAVLAQGQGDGTVSKGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKEAFPLAKGEVDTAPQGNKDLKEHVL
  QSSLSQEHKDPKATPP

• Structural information:
  • Interpro: IPR003150  IPR039779  IPR033486  IPR029298  IPR040889   IPR036388  IPR036390  
  • Prosite: PS51526
  • PDB: 2KW3 3V30
  • PDBsum: 2KW3 3V30
  • STRING: ENSP00000290524
• Other Databases: GeneCards:  RFX5  Malacards:  RFX5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
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:7744245
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)