• Gene id: 5994

Gene Summary

• Gene Symbol: RFXAP   Gene   UCSC   Ensembl
• Gene name: regulatory factor X associated protein
• Alternate names: regulatory factor X-associated protein, RFX DNA-binding complex 36 kDa subunit, RFX-associated protein,
• Gene location: 13q13.3 (36819221: 36829103)     Exons: 3     NC_000013.11
• 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 ankyrin-containing protein a
• OMIM: 603169

Protein Summary

• Protein general information: O00287  
  • Name: Regulatory factor X associated protein (RFX associated protein) (RFX DNA binding complex 36 kDa subunit)
  • Length: 272  
  • Mass: 28232
  • Tissue specificity: Ubiquitous.
• Sequence:

  MEAQGVAEGAGPGAASGVPHPAALAPAAAPTLAPASVAAAASQFTLLVMQPCAGQDEAAAPGGSVGAGKPVRYLC
  EGAGDGEEEAGEDEADLLDTSDPPGGGESAASLEDLEDEETHSGGEGSSGGARRRGSGGGSMSKTCTYEGCSETT
  SQVAKQRKPWMCKKHRNKMYKDKYKKKKSDQALNCGGTASTGSAGNVKLEESADNILSIVKQRTGSFGDRPARPT
  LLEQVLNQKRLSLLRSPEVVQFLQKQQQLLNQQVLEQRQQQFPGTSM

• Structural information:
  • Interpro: IPR038308  IPR029316  
  • PDB: 2KW3
  • PDBsum: 2KW3
  • STRING: ENSP00000255476
• Other Databases: GeneCards:  RFXAP  Malacards:  RFXAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R