• Gene id: 5930

Gene Summary

• Gene Symbol: RBBP6   Gene   UCSC   Ensembl
• Aliases: MY038, P2P-R, PACT, RBQ-1, SNAMA
• Gene name: RB binding protein 6, ubiquitin ligase
• Alternate names: E3 ubiquitin-protein ligase RBBP6, RB-binding Q-protein 1, RING-type E3 ubiquitin transferase RBBP6, p53-associated cellular protein of testis, proliferation potential-related protein, protein P2P-R, retinoblastoma binding protein 6, retinoblastoma-binding Q pro,
• Gene location: 16p12.1 (16617095: 16473037)     Exons: 13     NC_000005.10
• Gene summary(Entrez): The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a p
• OMIM: 600938

Protein Summary

• Protein general information: Q7Z6E9  
  • Name: E3 ubiquitin protein ligase RBBP6 (EC 2.3.2.27) (Proliferation potential related protein) (Protein P2P R) (RING type E3 ubiquitin transferase RBBP6) (Retinoblastoma binding Q protein 1) (RBQ 1) (Retinoblastoma binding protein 6) (p53 associated cellular p
  • Length: 1792  
  • Mass: 201564
  • Tissue specificity: Highly expressed in the placenta and testis. Expressed at lower levels in the brain, heart, kidney, liver and lung. Overexpressed in esophageal cancer. {ECO
• Sequence:

  MSCVHYKFSSKLNYDTVTFDGLHISLCDLKKQIMGREKLKAADCDLQITNAQTKEEYTDDNALIPKNSSVIVRRI
  PIGGVKSTSKTYVISRTEPAMATTKAIDDSSASISLAQLTKTANLAEANASEEDKIKAMMSQSGHEYDPINYMKK
  PLGPPPPSYTCFRCGKPGHYIKNCPTNGDKNFESGPRIKKSTGIPRSFMMEVKDPNMKGAMLTNTGKYAIPTIDA
  EAYAIGKKEKPPFLPEEPSSSSEEDDPIPDELLCLICKDIMTDAVVIPCCGNSYCDECIRTALLESDEHTCPTCH
  QNDVSPDALIANKFLRQAVNNFKNETGYTKRLRKQLPPPPPPIPPPRPLIQRNLQPLMRSPISRQQDPLMIPVTS
  SSTHPAPSISSLTSNQSSLAPPVSGNPSSAPAPVPDITATVSISVHSEKSDGPFRDSDNKILPAAALASEHSKGT
  SSIAITALMEEKGYQVPVLGTPSLLGQSLLHGQLIPTTGPVRINTARPGGGRPGWEHSNKLGYLVSPPQQIRRGE
  RSCYRSINRGRHHSERSQRTQGPSLPATPVFVPVPPPPLYPPPPHTLPLPPGVPPPQFSPQFPPGQPPPAGYSVP
  PPGFPPAPANLSTPWVSSGVQTAHSNTIPTTQAPPLSREEFYREQRRLKEEEKKKSKLDEFTNDFAKELMEYKKI
  QKERRRSFSRSKSPYSGSSYSRSSYTYSKSRSGSTRSRSYSRSFSRSHSRSYSRSPPYPRRGRGKSRNYRSRSRS
  HGYHRSRSRSPPYRRYHSRSRSPQAFRGQSPNKRNVPQGETEREYFNRYREVPPPYDMKAYYGRSVDFRDPFEKE
  RYREWERKYREWYEKYYKGYAAGAQPRPSANRENFSPERFLPLNIRNSPFTRGRREDYVGGQSHRSRNIGSNYPE
  KLSARDGHNQKDNTKSKEKESENAPGDGKGNKHKKHRKRRKGEESEGFLNPELLETSRKSREPTGVEENKTDSLF
  VLPSRDDATPVRDEPMDAESITFKSVSEKDKRERDKPKAKGDKTKRKNDGSAVSKKENIVKPAKGPQEKVDGERE
  RSPRSEPPIKKAKEETPKTDNTKSSSSSQKDEKITGTPRKAHSKSAKEHQETKPVKEEKVKKDYSKDVKSEKLTT
  KEEKAKKPNEKNKPLDNKGEKRKRKTEEKGVDKDFESSSMKISKLEVTEIVKPSPKRKMEPDTEKMDRTPEKDKI
  SLSAPAKKIKLNRETGKKIGSTENISNTKEPSEKLESTSSKVKQEKVKGKVRRKVTGTEGSSSTLVDYTSTSSTG
  GSPVRKSEEKTDTKRTVIKTMEEYNNDNTAPAEDVIIMIQVPQSKWDKDDFESEEEDVKSTQPISSVGKPASVIK
  NVSTKPSNIVKYPEKESEPSEKIQKFTKDVSHEIIQHEVKSSKNSASSEKGKTKDRDYSVLEKENPEKRKNSTQP
  EKESNLDRLNEQGNFKSLSQSSKEARTSDKHDSTRASSNKDFTPNRDKKTDYDTREYSSSKRRDEKNELTRRKDS
  PSRNKDSASGQKNKPREERDLPKKGTGDSKKSNSSPSRDRKPHDHKATYDTKRPNEETKSVDKNPCKDREKHVLE
  ARNNKESSGNKLLYILNPPETQVEKEQITGQIDKSTVKPKPQLSHSSRLSSDLTRETDEAAFEPDYNESDSESNV
  SVKEEESSGNISKDLKDKIVEKAKESLDTAAVVQVGISRNQSHSSPSVSPSRSHSPSGSQTRSHSSSASSAESQD
  SKKKKKKKEKKKHKKHKKHKKHKKHAGTEVELEKSQKHKHKKKKSKKNKDKEKEKEKDDQKVKSVTV

• Structural information:
  • Protein Domains: (4..7-)
    (/note="DWNN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00612"-)
  • Interpro: IPR014891  IPR033489  IPR003613  IPR025829  IPR001878   IPR036875  IPR001841  IPR013083  
  • Prosite: PS51282 PS50158 PS50089
  • PDB: 2C7H 2YSA 2YUR 3ZTG 6E5X
  • PDBsum: 2C7H 2YSA 2YUR 3ZTG 6E5X
  • DIP: 46897
  • STRING: ENSP00000317872
• Other Databases: GeneCards:  RBBP6  Malacards:  RBBP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006275	regulation of DNA replication	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0061053	somite development	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005813	centrosome	IDA	colocalizes with
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0019901	protein kinase binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray