Gene Gene information from NCBI Gene database.
Entrez ID 5930
Gene name RB binding protein 6, ubiquitin ligase
Gene symbol RBBP6
Synonyms (NCBI Gene)
MY038P2P-RPACTRBQ-1SNAMA
Chromosome 16
Chromosome location 16p12.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
457
miRTarBase ID miRNA Experiments Reference
MIRT052305 hsa-let-7b-5p CLASH 23622248
MIRT045398 hsa-miR-149-5p CLASH 23622248
MIRT035852 hsa-miR-1254 CLASH 23622248
MIRT250406 hsa-miR-193a-5p PAR-CLIP 20371350
MIRT501409 hsa-miR-103a-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22681889
GO:0004842 Function Ubiquitin-protein transferase activity IDA 18851979
GO:0004842 Function Ubiquitin-protein transferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600938 9889 ENSG00000122257
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6E9
Protein 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
Protein function E3 ubiquitin-protein ligase which promotes ubiquitination of YBX1, leading to its degradation by the proteasome (PubMed:18851979). May play a role as a scaffold protein to promote the assembly of the p53/TP53-MDM2 complex, resulting in increase
PDB 2C7H , 2YSA , 2YUR , 3ZTG , 6E5X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08783 DWNN 4 76 DWNN domain Domain
PF13696 zf-CCHC_2 156 176 Zinc knuckle Domain
PF04564 U-box 253 327 U-box domain Domain
Tissue specificity 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:0000269|PubMed:15475430}.
Sequence
MSCVHYKFSSKLNYDTVTFDGLHISLCDLKKQIMGREKLKAADCDLQITNAQTKEEYTDD
NALIPKNSSVIVRRIP
IGGVKSTSKTYVISRTEPAMATTKAIDDSSASISLAQLTKTANL
AEANASEEDKIKAMMSQSGHEYDPINYMKKPLGPPPPSYTCFRCGKPGHYIKNCPTNGDK
NFESGPRIKKSTGIPRSFMMEVKDPNMKGAMLTNTGKYAIPTIDAEAYAIGKKEKPPFLP
EEPSSSSEEDDPIPDELLCLICKDIMTDAVVIPCCGNSYCDECIRTALLESDEHTCPTCH
QNDVSPDALIANKFLRQAVNNFKNETG
YTKRLRKQLPPPPPPIPPPRPLIQRNLQPLMRS
PISRQQDPLMIPVTSSSTHPAPSISSLTSNQSSLAPPVSGNPSSAPAPVPDITATVSISV
HSEKSDGPFRDSDNKILPAAALASEHSKGTSSIAITALMEEKGYQVPVLGTPSLLGQSLL
HGQLIPTTGPVRINTARPGGGRPGWEHSNKLGYLVSPPQQIRRGERSCYRSINRGRHHSE
RSQRTQGPSLPATPVFVPVPPPPLYPPPPHTLPLPPGVPPPQFSPQFPPGQPPPAGYSVP
PPGFPPAPANLSTPWVSSGVQTAHSNTIPTTQAPPLSREEFYREQRRLKEEEKKKSKLDE
FTNDFAKELMEYKKIQKERRRSFSRSKSPYSGSSYSRSSYTYSKSRSGSTRSRSYSRSFS
RSHSRSYSRSPPYPRRGRGKSRNYRSRSRSHGYHRSRSRSPPYRRYHSRSRSPQAFRGQS
PNKRNVPQGETEREYFNRYREVPPPYDMKAYYGRSVDFRDPFEKERYREWERKYREWYEK
YYKGYAAGAQPRPSANRENFSPERFLPLNIRNSPFTRGRREDYVGGQSHRSRNIGSNYPE
KLSARDGHNQKDNTKSKEKESENAPGDGKGNKHKKHRKRRKGEESEGFLNPELLETSRKS
REPTGVEENKTDSLFVLPSRDDATPVRDEPMDAESITFKSVSEKDKRERDKPKAKGDKTK
RKNDGSAVSKKENIVKPAKGPQEKVDGERERSPRSEPPIKKAKEETPKTDNTKSSSSSQK
DEKITGTPRKAHSKSAKEHQETKPVKEEKVKKDYSKDVKSEKLTTKEEKAKKPNEKNKPL
DNKGEKRKRKTEEKGVDKDFESSSMKISKLEVTEIVKPSPKRKMEPDTEKMDRTPEKDKI
SLSAPAKKIKLNRETGKKIGSTENISNTKEPSEKLESTSSKVKQEKVKGKVRRKVTGTEG
SSSTLVDYTSTSSTGGSPVRKSEEKTDTKRTVIKTMEEYNNDNTAPAEDVIIMIQVPQSK
WDKDDFESEEEDVKSTQPISSVGKPASVIKNVSTKPSNIVKYPEKESEPSEKIQKFTKDV
SHEIIQHEVKSSKNSASSEKGKTKDRDYSVLEKENPEKRKNSTQPEKESNLDRLNEQGNF
KSLSQSSKEARTSDKHDSTRASSNKDFTPNRDKKTDYDTREYSSSKRRDEKNELTRRKDS
PSRNKDSASGQKNKPREERDLPKKGTGDSKKSNSSPSRDRKPHDHKATYDTKRPNEETKS
VDKNPCKDREKHVLEARNNKESSGNKLLYILNPPETQVEKEQITGQIDKSTVKPKPQLSH
SSRLSSDLTRETDEAAFEPDYNESDSESNVSVKEEESSGNISKDLKDKIVEKAKESLDTA
AVVQVGISRNQSHSSPSVSPSRSHSPSGSQTRSHSSSASSAESQDSKKKKKKKEKKKHKK
HKKHKKHKKHAGTEVELEKSQKHKHKKKKSKKNKDKEKEKEKDDQKVKSVTV
Sequence length 1792
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RBBP6-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 17332367
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 28063245, 29379275
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 29032202
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24703106, 30237738, 31067223
★☆☆☆☆
Found in Text Mining only
Bronchioloalveolar Adenocarcinoma Lung adenocarcinoma BEFREE 17332367
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23799110 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 21676486
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 21676486, 25127414
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 34132380 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 30305341
★☆☆☆☆
Found in Text Mining only