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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RBL1 Gene

protein-coding GIFtS: 64
GCID: GC20M035624

Retinoblastoma-Like 1 (P107)

Microbiology & Infectious Diseases Congress

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Retinoblastoma-Like 1 (P107)¹ ²		PRB1²
107 KDa Retinoblastoma-Associated Protein² ³		Cellular Protein 107²
p107² ³		Retinoblastoma-Like Protein 1²
CP107² ⁵		pRb1³

External Ids:	HGNC: 9893¹	Entrez Gene: 5933²	Ensembl: ENSG00000080839⁷	OMIM: 116957⁵	UniProtKB: P28749³

Export aliases for RBL1 gene to outside databases

Previous GC identifers: GC20M035354 GC20M036264 GC20M036311 GC20M035059 GC20M032361

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RBL1 Gene:

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 phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the

cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and

SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In

addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their

promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein

encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have

been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for RBL1 Gene:

RBL1 (retinoblastoma-like 1 (p107)) is a protein-coding gene. Diseases associated with RBL1 include bilateral retinoblastoma, and retinoblastoma, and among its related super-pathways are Cell cycle Cell cycle (generic schema) and Cell cycle. GO annotations related to this gene include protein binding and transcription factor binding. An important paralog of this gene is RB1.

UniProtKB/Swiss-Prot: RBL1_HUMAN, P28749

Function: Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining

overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone

methylation. Recruits and targets histone methyltransferases SUV420H1 and SUV420H2, leading to epigenetic

transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription

repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated

trans-activation. Forms a complex with adenovirus E1A and with SV40 large T antigen. May bind and modulate

functionally certain cellular proteins with which T and E1A compete for pocket binding. May act as a tumor

suppressor

Gene Wiki entry for RBL1 (Retinoblastoma-like protein 1) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.2 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RBL1 gene promoter:
SRF Sp1 p53 SRF (504 AA)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): RBL1 promoter sequence

Search SABiosciences Chromatin IP Primers for RBL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.2 Ensembl cytogenetic band: 20q11.23 HGNC cytogenetic band: 20q11.23

RBL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBL1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M035624: view genomic region (about GC identifiers)

Start:	35,624,752 bp from pter	End:	35,724,410 bp from pter
Size:	99,659 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RBL1_HUMAN, P28749 (See protein sequence)

Recommended Name: Retinoblastoma-like protein 1

Size: 1068 amino acids; 120847 Da

Subunit: Interacts with SUV420H1, SUV420H2 and USP4 (By similarity). Component of the DREAM complex (also named

LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1

and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in

S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2. Interacts with AATF. Interacts

with KDM5A. Interacts with SV40 and JC virus large T antigens

Subcellular location: Nucleus (Potential)

1 PDB 3D structure from and Proteopedia for RBL1:

1H28 (3D)

Secondary accessions: A8K2W5 Q4VXA0 Q8N5K6 Q9H1L5 Q9H1M1

Alternative splicing: 2 isoforms: P28749-1 P28749-2

Explore the universe of human proteins at neXtProt for RBL1: NX_P28749

Explore proteomics data for RBL1 at MOPED

Post-translational modifications:

UniProtKB: Exists in both phosphorylated and unphosphorylated forms, and T, but not E1A, binds only to the unphosphorylated

form. Cell-cycle arrest properties are inactivated by phosphorylation on Thr-332, Ser-640, Ser-964 and Ser-975 by

CDK4

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P28749

RBL1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_002886.2 NP_899662.1

ENSEMBL proteins:

ENSP00000362768 ENSP00000343646 ENSP00000434711 ENSP00000437240

Reactome Protein details: P28749
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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005654	nucleoplasm	TAS	--
GO:0005667	transcription factor complex	IEA	--

RBL1 for ontologies About GeneDecksing

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	Cloud-Clone Corp. ELISAs for RBL1 Cloud-Clone Corp. CLIAs for RBL1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5 InterPro protein domains:

IPR015030 Rb_C

IPR013763 Cyclin-like

IPR024599 DUF3452_retinoblatoma-assoc

IPR002720 RB_A

IPR002719 RB_B

Graphical View of Domain Structure for InterPro Entry P28749

ProtoNet protein and cluster: P28749

1 Blocks protein domain: IPB002720 Retinoblastoma-associated protein

UniProtKB/Swiss-Prot: RBL1_HUMAN, P28749

Similarity: Belongs to the retinoblastoma protein (RB) family

RBL1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: RBL1_HUMAN, P28749

Function: Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining

overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone

methylation. Recruits and targets histone methyltransferases SUV420H1 and SUV420H2, leading to epigenetic

transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription

repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated

trans-activation. Forms a complex with adenovirus E1A and with SV40 large T antigen. May bind and modulate

functionally certain cellular proteins with which T and E1A compete for pocket binding. May act as a tumor

suppressor

Genatlas biochemistry entry for RBL1:

retinoblastoma product related protein,p107,involved in cell cycle regulation,interacting with transcription

factor E2F-4 and with cyclin E/A-CDK2 complexes,may be altered in a limited subset of hematologic malignancies

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	1331501
GO:0008134	transcription factor binding	IPI	16360038

RBL1 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for RBL1:

Increased cell death in breast

Increased circadian period len

Upregulation of Wnt/beta-caten

15/25 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Rbl1) (see all 25):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
digestive/alimentary	embryogenesis	endocrine/exocrine gland	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system

RBL1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for RBL1: Rbl1^tm1Mru Rbl1^tm1Tyj

inGenious Targeting Laboratory - Custom generated mouse model solutions for RBL1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RBL1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBL1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBL1

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		hsa-miR-3130-5p hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-124 hsa-miR-372 hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: RBL1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBL1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for RBL1 About (see all 20)

See pathways by source

SuperPath

Contained pathways About

Cell cycle Cell cycle (generic schema)

	Cell cycle Cell cycle (generic schema)	0.38			G0 and Early G1	0.31
	Cell cycle Regulation of G1/S transition (part 2)	0.38

Cell cycle

Cell cycle

0.59

Cell cycle

0.59

Mitotic G1-G1/S phases

Mitotic G1-G1/S phases

0.80

G1 to S cell cycle control

0.36

Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer

	Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	0.63			Signaling by TGF-beta Receptor Complex	0.61
	SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription	0.63

Cell Cycle

Cell Cycle, Mitotic

0.84

Cell Cycle

0.84

Pathways by source See SuperPaths
Show all pathways

2 EMD Millipore Pathways for RBL1

	Cell cycle Regulation of G1/S transition (part 2)
	Cell cycle Cell cycle (generic schema)

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RBL1

	Estrogen-mediated S-Phase Entry
	Molecular Mechanisms of Cancer
	Macrophage Differentiation and Growth Inhibition by METS

2 GeneGo (Thomson Reuters) Pathways for RBL1

	Cell cycle Regulation of G1/S transition (part 2)
	Cell cycle Cell cycle (generic schema)

5/9 BioSystems Pathways for RBL1 (see all 9)

	Cell cycle
	G1 to S cell cycle control
	Adipogenesis
	TGF-beta Receptor Signaling Pathway
	Id Signaling Pathway

5/12 Reactome Pathways for RBL1 (see all 12)

	G1 Phase
	Generic Transcription Pathway
	Mitotic G1-G1/S phases
	Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
	G0 and Early G1

3 Kegg Pathways (Kegg details for RBL1):

	Cell cycle
	TGF-beta signaling pathway
	Viral carcinogenesis

RBL1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RBL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/311 Interacting proteins for RBL1 (P28749^{1, 2, 3} ENSP00000362768⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 311)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=4
HIST1H4B	P62805³	I2D: score=4
HIST1H4C	P62805³	I2D: score=4
HIST1H4D	P62805³	I2D: score=4
HIST1H4E	P62805³	I2D: score=4

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0000278	mitotic cell cycle	TAS	--
GO:0006351	transcription, DNA-dependent	TAS	--
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	--
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	--

RBL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RBL1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RBL1

10/18 Novoseek inferred chemical compound relationships for RBL1 gene (see all 18) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
selenourea	67.4	3	7739537 (1), 11798183 (1)
flavopiridol	53.1	2	10777774 (1), 9829756 (1)
hpvs	50	3	9094616 (1), 16282477 (1), 20189212 (1)
lactacystin	49.8	2	10534570 (1), 10086333 (1)
dihydrofolate	38.8	1	9671466 (1)
polypropylene glycol	37.7	1	16880778 (1)
tgf beta1	16.2	5	11027571 (3), 10830731 (1)
lovastatin	8.07	5	10534570 (2), 10086333 (2)
serine	8	2	17155949 (1), 10086333 (1)
calcium	1.16	1	10534570 (1)

Search CenterWatch for drugs/clinical trials and news about RBL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RBL1 gene (2 alternative transcripts):

NM_002895.3 NM_183404.2

Unigene Cluster for RBL1:

Retinoblastoma-like 1 (p107)

Hs.207745 [show with all ESTs]

Unigene Representative Sequence: NM_002895

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373664(uc002xgi.3 uc010gfv.1) ENST00000344359(uc002xgj.1)

ENST00000525052 ENST00000527999

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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		8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate RBL1 (see all 32):
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Additional mRNA sequence:

AK290380.1 AK308096.1 AK310870.1 BC032247.1 L14812.1 M74547.1

7 DOTS entries:

DT.110256 DT.100017267 DT.86853968 DT.407625 DT.91847200 DT.99962499 DT.102824824

2 AceView cDNA sequences:

BC017557 BE882582

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RBL1 expression in normal human tissues (normalized intensities) RBL1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ATAAGGCAAG

About this image

RBL1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/1 selected tissues (see all 1) fully expand


Brain (Nervous System)
Adult Oligodendrocyte Precursor Cells Lateral Ventricle

See RBL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RBL1

SOURCE GeneReport for Unigene cluster: Hs.207745

SABiosciences Expression via Pathway-Focused PCR Arrays including RBL1:

Cell Cycle in human mouse rat

TGFB Signaling Targets in human mouse rat

Stem Cell Signaling in human mouse rat

Cellular Senescence in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for RBL1 gene from 9/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rbl1^{1 , 5}	retinoblastoma-like 1 (p107)^{1, 5}	87.61(n)¹ 90.87(a)¹		2 (78.05 cM)⁵ 19650¹ NM_011249.2¹ NP_035379.2¹ 157145893⁵
chicken (Gallus gallus)	Aves	RBL1¹	retinoblastoma-like 1 (p107)	75.48(n) 80.5(a)		419126 XM_417312.3 XP_417312.3
lizard (Anolis carolinensis)	Reptilia	RBL1⁶	retinoblastoma-like 1 (p107)	77(a)	1 ↔ 1	4(135049892-135079292)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.7030²	Transcribed sequence with moderate similarity to protein more	74.5(n)		BX746496.1
zebrafish (Danio rerio)	Actinopterygii	AL925341.1²	--	73.14(n)		AL925341.1
fruit fly (Drosophila melanogaster)	Insecta	Rbf³	negative regulation of cell proliferation DNA more	32(a)		1C5 --
worm (Caenorhabditis elegans)	Secernentea	lin-35¹	Protein LIN-35	43.8(n) 28.36(a)		172249 NM_059285.2 NP_491686.1
thale cress (Arabidopsis thaliana)	eudicotyledons	RBR1¹	Retinoblastoma-related protein 1	44.17(n) 29.68(a)		820408 NM_112064.4 NP_566417.3
rice (Oryza sativa)	Liliopsida	Os11g0533500¹	hypothetical protein	42.81(n) 29.89(a)		4350648 NM_001074552.1 NP_001068020.1

ENSEMBL Gene Tree for RBL1 (if available)
TreeFam Gene Tree for RBL1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for RBL1 gene

RB1² RBL2²

2 SIMAP similar genes for RBL1 using alignment to 4 protein entries: RBL1_HUMAN (see all proteins):

RBL2 DKFZp781K2028

RBL1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6031397^1,2	H	--	32460767(+)	`ATGAAG/AGTTGT`	2	--	us2k¹		4		NS EA	418
rs181406723^1,2		--	35625714(+)	`GAGTAC/TTCAGT`	1	--	ds500¹		0	--	--	--	--
rs112555264^1,2	C,F	--	35625736(+)	`CATCCC/ATAGTA`	1	--	ds500¹		2		CSA WA	120
rs6030653^1,2	C,F	--	35625886(+)	`CTATTT/ATACTG`	1	--	ds500¹		1		NA	2
rs112544331^1,2	C	--	35625917(+)	`TTATG-/AGGCAT`	1	--	ds500¹		1		CSA	2
rs185769195^1,2		--	35625930(+)	`GATGAC/TATTTA`	1	--	ds500¹		0	--	--	--	--
rs73621690^1,2	C	--	35626029(+)	`CACAT-/AAATCA`	1	--	ds500¹		0	--	--	--	--
rs59393665^1,2	C	--	35626031(+)	`CATAA-/ATCATG`	1	--	ds500¹		0	--	--	--	--
rs8120599^1,2	C,F,H	--	35626055(+)	`AATAGG/AAATTT`	1	--	ds500¹ ese³		9		NS NA WA	1482
rs116162813^1,2	C,F	--	35626250(+)	`AGGGCT/CGGAAA`	1	--	ut3¹		1		WA	118

HapMap Linkage Disequilibrium report for RBL1 (35624752 - 35724410 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for RBL1: --

SABiosciences Cancer Mutation PCR Assays

SeqTarget long-range PCR primers for resequencing RBL1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 116957 OMIM disorders: --

20/38 diseases for RBL1 (see all 38): About MalaCards

bilateral retinoblastoma retinoblastoma cervical intraepithelial neoplasia cervicitis

papillary carcinoma papilloma noma burkitt's lymphoma

osteosarcoma choroiditis lung cancer medulloblastoma

glioblastoma esophageal adenocarcinoma esophageal cancer intrahepatic cholangiocarcinoma

cholangiocarcinoma b-cell lymphomas astrocytoma prostatitis

RBL1 for disorders About GeneDecksing

10/23 Novoseek inferred disease relationships for RBL1 gene (see all 23) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinoblastoma	93.8	153	7791762 (3), 9256285 (3), 11260068 (2), 7935440 (2) (see all 99)
tumors	51.1	69	17486638 (3), 15867222 (3), 19951992 (2), 9192669 (2) (see all 49)
osteosarcoma	36.7	4	8621601 (1), 11152455 (1), 10906146 (1), 1829750 (1)
myeloid leukemia	33.2	2	8230483 (1), 18294958 (1)
cancer	28.6	9	19887614 (2), 15193252 (1), 8143345 (1), 9271426 (1) (see all 8)
cervical intraepithelial neoplasia	15.7	2	16835319 (1), 16158962 (1)
mesothelioma	12.3	3	9256285 (2), 11030152 (1)
carcinoma embryonal	10.6	1	7685208 (1)
papilloma	8.23	1	9192669 (1)
cervical carcinoma	6.63	1	8319904 (1)

Genetic Association Database (GAD): RBL1
Human Genome Epidemiology (HuGE) Navigator: RBL1 (5 documents)

Export disorders for RBL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for RBL1 gene, integrated from 9 sources (see all 372):
(articles sorted by number of sources associating them with RBL1)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning, chromosomal mapping, and expression of the cDNA for p107, a retinoblastoma gene product-related protein. (PubMed id 1833063)^{1, 2, 3, 9} Ewen M.E.... Livingston D.M. (1991)
Reversal of growth suppression by p107 via direct phosphorylation by cyclin D1/cyclin-dependent kinase 4. (PubMed id 11884610)^{1, 2, 9} Leng X.... Harper J.W. (2002)
Inhibition of cell proliferation by p107, a relative of the retinoblastoma protein. (PubMed id 8319904)^{1, 2, 9} Zhu L.... Harlow E. (1993)
Differential roles of two tandem E2F sites in repression of the human p107 promoter by retinoblastoma and p107 proteins. (PubMed id 7791762)^{1, 2, 9} Zhu L.... Chang L.S. (1995)
Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. (PubMed id 7935440)^{1, 2, 9} Kim Y.W.... Kaye F.J. (1994)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (2010)
A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)^{1, 4} Liu C.Y....Christiani D.C. (2010)
Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis. (PubMed id 19738611)^{1, 4} Cunningham J.M....Fridley B.L. (2009)
High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)^{1, 4} Yerges L.M....Zmuda J.M. (2009)
LINC, a human complex that is related to pRB-containing complexes in invertebrates regulates the expression of G2/M genes. (PubMed id 17671431)^{1, 2} Schmit F.... Gaubatz S. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5933	HGNC: 9893	AceView: RBL1.1	Ensembl:ENSG00000080839	euGenes: HUgn5933
ECgene: RBL1	Kegg: 5933	H-InvDB: RBL1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RBL1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RBL1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for RBL1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RBL1 gene:
Search GeneIP for patents involving RBL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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