Gene Gene information from NCBI Gene database.
Entrez ID 5933
Gene name RB transcriptional corepressor like 1
Gene symbol RBL1
Synonyms (NCBI Gene)
CP107PRB1p107
Chromosome 20
Chromosome location 20q11.23
Summary The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylat
miRNA miRNA information provided by mirtarbase database.
384
miRTarBase ID miRNA Experiments Reference
MIRT005851 hsa-miR-17-5p Luciferase reporter assay 21283765
MIRT005858 hsa-miR-20a-5p Luciferase reporter assay 21283765
MIRT005866 hsa-miR-106b-5p Luciferase reporter assay 21283765
MIRT005866 hsa-miR-106b-5p Luciferase reporter assay 24166509
MIRT005866 hsa-miR-106b-5p Luciferase reporter assay 24166509
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ARID3A Unknown 23659165
RB1 Repression 9671466
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0005515 Function Protein binding IPI 1331501, 9464541, 15467457, 16061792, 16189514, 16286473, 16360038, 16381817, 17620057, 21903422, 22094256, 22810586, 22898364, 23602568, 25609649, 32707033, 34661528
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116957 9893 ENSG00000080839
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28749
Protein name Retinoblastoma-like protein 1 (107 kDa retinoblastoma-associated protein) (p107) (pRb1)
Protein function Key regulator of entry into cell division (PubMed:17671431). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation (B
PDB 1H28 , 4YOO , 4YOS , 4YOZ , 5TUV , 7SMC , 7SMD , 7SME , 7SMF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11934 DUF3452 77 212 Domain of unknown function (DUF3452) Family
PF01858 RB_A 385 578 Retinoblastoma-associated protein A domain Domain
PF01857 RB_B 787 943 Retinoblastoma-associated protein B domain Domain
Sequence
MFEDKPHAEGAAVVAAAGEALQALCQELNLDEGSAAEALDDFTAIRGNYSLEGEVTHWLA
CSLYVACRKSIIPTVGKGIMEGNCVSLTRILRSAKLSLIQFFSKMKKWMDMSNLPQEFRE
RIERLERNFEVSTVIFKKYEPIFLDIFQNPYEEPPKLPRSRKQRRIPCSVKDLFNFCWTL
FVYTKGNFRMIGDDLVNSYHLLLCCLDLIFAN
AIMCPNRQDLLNPSFKGLPSDFHTADFT
ASEEPPCIIAVLCELHDGLLVEAKGIKEHYFKPYISKLFDRKILKGECLLDLSSFTDNSK
AVNKEYEEYVLTVGDFDERIFLGADAEEEIGTPRKFTRDTPLGKLTAQANVEYNLQQHFE
KKRSFAPSTPLTGRRYLREKEAVITPVASATQSVSRLQSIVAGLKNAPSDQLINIFESCV
RNPVENIMKILKGIGETFCQHYTQSTDEQPGSHIDFAVNRLKLAEILYYKILETVMVQET
RRLHGMDMSVLLEQDIFHRSLMACCLEIVLFAYSSPRTFPWIIEVLNLQPFYFYKVIEVV
IRSEEGLSRDMVKHLNSIEEQILESLAWSHDSALWEAL
QVSANKVPTCEEVIFPNNFETG
NGGNVQGHLPLMPMSPLMHPRVKEVRTDSGSLRRDMQPLSPISVHERYSSPTAGSAKRRL
FGEDPPKEMLMDKIITEGTKLKIAPSSSITAENVSILPGQTLLTMATAPVTGTTGHKVTI
PLHGVANDAGEITLIPLSMNTNQESKVKSPVSLTAHSLIGASPKQTNLTKAQEVHSTGIN
RPKRTGSLALFYRKVYHLASVRLRDLCLKLDVSNELRRKIWTCFEFTLVHCPDLMKDRHL
DQLLLCAFYIMAKVTKEERTFQEIMKSYRNQPQANSHVYRSVLLKSIPREVVAYNKNIND
DFEMIDCDLEDATKTPDCSSGPVKEERGDLIKFYNTIYVGRVK
SFALKYDLANQDHMMDA
PPLSPFPHIKQQPGSPRRISQQHSIYISPHKNGSGLTPRSALLYKFNGSPSKSLKDINNM
IRQGEQRTKKRVIAIDSDAESPAKRVCQENDDVLLKRLQDVVSERANH
Sequence length 1068
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle
Cellular senescence
TGF-beta signaling pathway
Human papillomavirus infection
Viral carcinogenesis
  Transcription of E2F targets under negative control by DREAM complex
G0 and Early G1
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
Cyclin D associated events in G1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
DIABETIC NEPHROPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Uncertain significance 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
Acute leukemia Leukemia BEFREE 31396671
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 23963861
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 14666683
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 9790944
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 2729275 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30602619
★☆☆☆☆
Found in Text Mining only
Aortic Valve Disease Aortic valve disease Pubtator 37234568 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy BEFREE 29915098
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 35344278 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 38403804 Associate
★☆☆☆☆
Found in Text Mining only