• Gene id: 5929

Gene Summary

• Gene Symbol: RBBP5   Gene   UCSC   Ensembl
• Aliases: RBQ3, SWD1
• Gene name: RB binding protein 5, histone lysine methyltransferase complex subunit
• Alternate names: retinoblastoma-binding protein 5, RBBP-5, SWD1, Set1c WD40 repeat protein, homolog, retinoblastoma-binding protein RBQ-3,
• Gene location: 1q32.1 (205122014: 205086141)     Exons: 14     NC_000001.11
• Gene summary(Entrez): This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially w
• OMIM: 600697

Protein Summary

• Protein general information: Q15291  
  • Name: Retinoblastoma binding protein 5 (RBBP 5) (Retinoblastoma binding protein RBQ 3)
  • Length: 538  
  • Mass: 59153
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MNLELLESFGQNYPEEADGTLDCISMALTCTFNRWGTLLAVGCNDGRIVIWDFLTRGIAKIISAHIHPVCSLCWS
  RDGHKLVSASTDNIVSQWDVLSGDCDQRFRFPSPILKVQYHPRDQNKVLVCPMKSAPVMLTLSDSKHVVLPVDDD
  SDLNVVASFDRRGEYIYTGNAKGKILVLKTDSQDLVASFRVTTGTSNTTAIKSIEFARKGSCFLINTADRIIRVY
  DGREILTCGRDGEPEPMQKLQDLVNRTPWKKCCFSGDGEYIVAGSARQHALYIWEKSIGNLVKILHGTRGELLLD
  VAWHPVRPIIASISSGVVSIWAQNQVENWSAFAPDFKELDENVEYEERESEFDIEDEDKSEPEQTGADAAEDEEV
  DVTSVDPIAAFCSSDEELEDSKALLYLPIAPEVEDPEENPYGPPPDAVQTSLMDEGASSEKKRQSSADGSQPPKK
  KPKTTNIELQGVPNDEVHPLLGVKGDGKSKKKQAGRPKGSKGKEKDSPFKPKLYKGDRGLPLEGSAKGKVQAELS
  QPLTAGGAISELL

• Structural information:
  • Interpro: IPR037850  IPR015943  IPR001680  IPR017986  
  • Prosite: PS50082 PS50294
  • PDB: 3P4F 4X8N 4X8P 5F6K 5F6L 6KIU 6KIV 6KIW 6KIX 6KIZ 6KM7 6PWV 6PWW 6PWX
  • PDBsum: 3P4F 4X8N 4X8P 5F6K 5F6L 6KIU 6KIV 6KIW 6KIX 6KIZ 6KM7 6PWV 6PWW 6PWX
  • DIP: 29224
  • STRING: ENSP00000264515
• Other Databases: GeneCards:  RBBP5  Malacards:  RBBP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071339	MLL1 complex	IDA	cellular component
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0035064	methylated histone binding	IDA	molecular function
GO:0051568	histone H3-K4 methylation	IDA	biological process
GO:0048188	Set1C/COMPASS complex	IDA	cellular component
GO:0048188	Set1C/COMPASS complex	IDA	cellular component
GO:0044666	MLL3/4 complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048188	Set1C/COMPASS complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0035097	histone methyltransferase complex	IPI	cellular component
GO:0035097	histone methyltransferase complex	IPI	cellular component
GO:0035097	histone methyltransferase complex	IPI	cellular component
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0045652	regulation of megakaryocyte differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051568	histone H3-K4 methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0043627	response to estrogen	IDA	biological process
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	contributes to
GO:0051568	histone H3-K4 methylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881