Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5925
Gene name Gene Name - the full gene name approved by the HGNC.
RB transcriptional corepressor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RB1
Synonyms (NCBI Gene) Gene synonyms aliases
OSRC, PPP1R130, RB, p105-Rb, p110-RB1, pRb, pp110
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT001840 hsa-miR-106a-5p Microarray 19175831
MIRT003587 hsa-miR-335-5p Luciferase reporter assay, Western blot 20713524
MIRT003587 hsa-miR-335-5p Luciferase reporter assay, Western blot 20713524
MIRT003425 hsa-miR-23b-3p flow, Microarray 20133741
MIRT003213 hsa-miR-26a-5p GFP reporter assay, Luciferase reporter assay, Western blot 20080666
Transcription factors
Transcription factor Regulation Reference
BDP1 Unknown 12734418
CTNNB1 Repression 16628468
DNMT1 Repression 17934516
E2F1 Activation 8264596
KAT2B Activation 19525977
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614041 9884 ENSG00000139687
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Retinoblastoma retinoblastoma rs587776782, rs1555279195, rs1593411974, rs121913300, rs1566186840, rs587778866, rs1131690881, rs1593445096, rs587778861, rs1555282775, rs387906521, rs1952726441, rs121913302, rs1566186125, rs1060503067
View all (215 more)
N/A
Hereditary Retinoblastoma hereditary retinoblastoma rs137853296, rs1131690858 N/A
Lung carcinoma Small cell lung carcinoma rs121913297 N/A
Lynch syndrome Lynch syndrome 4 rs750136284, rs587776789 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
hereditary cancer Hereditary cancer N/A N/A ClinVar
Kidney Disease Chronic kidney disease N/A N/A GWAS
Medulloblastoma medulloblastoma N/A N/A ClinVar
Associations from Text Mining Disease 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