Gene Gene information from NCBI Gene database.
Entrez ID 5925
Gene name RB transcriptional corepressor 1
Gene symbol RB1
Synonyms (NCBI Gene)
OSRCPPP1R130RBp105-Rbp110-RB1pRbpp110
Chromosome 13
Chromosome location 13q14.2
Summary The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophospho
SNPs SNP information provided by dbSNP.
162
SNP ID Visualize variation Clinical significance Consequence
rs3092895 A>G,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant, missense variant
rs121913295 G>T Likely-pathogenic Missense variant, coding sequence variant
rs121913296 G>T Likely-pathogenic, pathogenic Stop gained, coding sequence variant
rs121913297 G>A,T Uncertain-significance, likely-pathogenic, pathogenic Stop gained, missense variant, coding sequence variant
rs121913298 T>A Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
401
miRTarBase ID miRNA Experiments Reference
MIRT001840 hsa-miR-106a-5p Microarray 19175831
MIRT003587 hsa-miR-335-5p Luciferase reporter assayWestern blot 20713524
MIRT003587 hsa-miR-335-5p Luciferase reporter assayWestern blot 20713524
MIRT003425 hsa-miR-23b-3p flowMicroarray 20133741
MIRT003213 hsa-miR-26a-5p GFP reporter assayLuciferase reporter assayWestern blot 20080666
Transcription factors Transcription factors information provided by TRRUST V2 database.
11
Transcription factor Regulation Reference
BDP1 Unknown 12734418
CTNNB1 Repression 16628468
DNMT1 Repression 17934516
E2F1 Activation 8264596
KAT2B Activation 19525977
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
128
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 19149898
GO:0000785 Component Chromatin IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614041 9884 ENSG00000139687
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P06400
Protein name Retinoblastoma-associated protein (p105-Rb) (p110-RB1) (pRb) (Rb) (pp110)
Protein function Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle (PubMed:10499802). The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes (PubMed:10499802)
PDB 1AD6 , 1GH6 , 1GUX , 1H25 , 1N4M , 1O9K , 1PJM , 2AZE , 2QDJ , 2R7G , 3N5U , 3POM , 4CRI , 4ELJ , 4ELL , 9DGK , 9DHC , 9DHF , 9DHU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11934 DUF3452 109 228 Domain of unknown function (DUF3452) Family
PF01858 RB_A 373 573 Retinoblastoma-associated protein A domain Domain
PF01857 RB_B 646 765 Retinoblastoma-associated protein B domain Domain
PF08934 Rb_C 768 925 Rb C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina. Expressed in foreskin keratinocytes (at protein level) (PubMed:20940255). {ECO:0000269|PubMed:20940255}.
Sequence
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTAL
CQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTEL
QKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSS
ISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIK
LSPPMLLKEPYK
TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFM
NSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKS
NLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVK
DIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEG
NLTREMIKHLERCEHRIMESLAWLSDSPLFDLI
KQSKDREGPTDHLESACPLNLPLQNNH
TAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYL
RLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLK
FKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLK
TNILQYASTRPPTLS
PIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFG
TSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQK
LAEMTSTRTRMQKQKMNDSMDTSNK
EEK
Sequence length 928
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocrine resistance
Cell cycle
Cellular senescence
Cushing syndrome
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Epstein-Barr virus infection
Pathways in cancer
Viral carcinogenesis
Chemical carcinogenesis - receptor activation
Pancreatic cancer
Glioma
Prostate cancer
Melanoma
Bladder cancer
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Inhibition of replication initiation of damaged DNA by RB1/E2F1
Condensation of Prophase Chromosomes
Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Oncogene Induced Senescence
Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
Cyclin E associated events during G1/S transition
Cyclin D associated events in G1
Cyclin A:Cdk2-associated events at S phase entry
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5137
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bone osteosarcoma Pathogenic rs587778842, rs587776783, rs3092891, rs137853293, rs137853294, rs587776789 RCV006257273
RCV000763334
RCV002496351
RCV005007842
RCV000763335
RCV004795405
Cervical cancer Pathogenic rs587778860 RCV005887887
Colon adenocarcinoma Likely pathogenic rs1566187856 RCV005901722
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Pathogenic rs587776780 RCV006254235
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs372815788, rs80122842, rs776987458, rs781419356 RCV005924763
RCV005923677
RCV005924942
RCV005899924
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) Uncertain significance rs1566240940 RCV000761115
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified Conflicting classifications of pathogenicity rs149359120 RCV000761059
Cholangiocarcinoma Benign rs9535023 RCV005888451
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
13q deletion syndrome Associate 34573300
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 23223137, 26655088, 36075957
Adenocarcinoma Associate 32460015, 34627261, 34674268, 35016432, 36573306, 37628903, 37967200
Adenocarcinoma Mucinous Associate 17649817
Adenocarcinoma of Lung Associate 18948947, 21151896, 25758528, 26066407, 29525983, 31292388, 31959344, 32616892, 32931935, 35016432, 35367201, 36583000, 36810856, 37520249
Adenoma Pleomorphic Associate 21196892, 23900873
Adrenocortical Adenoma Associate 33564960
Adrenocortical Carcinoma Associate 25078331, 25490274, 29581542, 33564960
Allan Herndon Dudley syndrome Associate 26195723
Anaplasia Associate 32139107