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RBL1 Gene

protein-coding GIFtS: 64
GCID: GC20M035624

Retinoblastoma-Like 1

Microbiology & Infectious Diseases Congress

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Retinoblastoma-Like 1¹ ²		Cellular Protein 107²
107 KDa Retinoblastoma-Associated Protein² ³		Retinoblastoma-Like 1 (P107)²
p107² ³		Retinoblastoma-Like Protein 1²
CP107² ⁵		pRb1³
PRB1²

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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) is a protein-coding gene. Diseases associated with RBL1 include unilateral retinoblastoma, and bilateral retinoblastoma. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000020.11 NT_011362.11 NC_018931.2

Regulatory elements:

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 Chromatin IP Primers for RBL1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

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:

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

CDK4¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See RBL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_002886.2 NP_899662.1

ENSEMBL proteins:

ENSP00000362768 ENSP00000343646 ENSP00000434711 ENSP00000437240

Reactome Protein details: P28749

RBL1 Human Recombinant Protein Products:

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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)
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Selected InterPro protein domains (see all 7):

IPR015030 RB_C

IPR028309 RB_fam

IPR013763 Cyclin-like

IPR024599 RB_N

IPR002720 RB_A

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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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: 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

Selected 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/body	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: Let us create your new Knockout/Knockin mouse model for RBL1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

miRNA Products:		miRTarBase miRNAs that target RBL1: hsa-mir-106b-5p (MIRT005866), hsa-mir-17-5p (MIRT005851), hsa-mir-20a-5p (MIRT005858)

		Block miRNA regulation of human, mouse, rat RBL1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate RBL1 (see all 32):
		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

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for RBL1
		Predesigned siRNA for gene silencing in human, mouse, rat RBL1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RBL1

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		GenScript: all cDNA clones in your preferred vector (see all 2): RBL1 (NM_002895)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBL1
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		Browse ESI BIO Cell Lines and PureStem Progenitors for RBL1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBL1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

RBL1_HUMAN, P28749: Nucleus (Potential)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	4
cytosol	1
endoplasmic reticulum	1
extracellular	1
golgi apparatus	1
peroxisome	1
plasma membrane	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005667	transcription factor complex	IEA	--
GO:0005730	NOT nucleolus	IDA	--

RBL1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for RBL1 About (see all 22)

See pathways by source

SuperPath

Selected contained pathways About (see all per SuperPath)

Cell cycle

Cell cycle

0.59

Cell cycle

0.59

E2F mediated regulation of DNA replication

Mitotic G1-G1/S phases

0.81

G1 to S cell cycle control

0.35

Loss of Function of SMAD2/3 in Cancer

Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer	0.72	Signaling by TGF-beta Receptor Complex	0.60
SMAD2/SMAD3-SMAD4 heterotrimer regulates transcription	0.72	TGFBR1 KD Mutants in Cancer	0.60
Loss of Function of SMAD2/3 in Cancer	0.60	SMAD2/3 MH2 Domain Mutants in Cancer	0.60
Loss of Function of SMAD4 in Cancer	0.60	SMAD2/3 Phosphorylation Motif Mutants in Cancer	0.60

Cell Cycle, Mitotic

Cell Cycle, Mitotic

0.90

Cell Cycle

0.90

Gene Expression

Generic Transcription Pathway

0.40

Gene Expression

0.40

Pathways by source See SuperPaths
Show all pathways

3 Downloadable PowerPoint Slides of GeneGlobe 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)

Selected BioSystems Pathways for RBL1 (see all 9)

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

3 Reactome Pathways for RBL1

	G0 and Early G1
	Cyclin D associated events in G1
	SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription

3 Kegg Pathways (Kegg details for RBL1):

	Cell cycle
	TGF-beta signaling pathway
	Viral carcinogenesis

RBL1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler 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

Interactions:

GeneGlobe Interaction Network for RBL1

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

Selected Interacting proteins for RBL1 (P28749^{1, 2, 3} ENSP00000362768⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 339)

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): Selected biological process terms (see all 14): 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-templated	TAS	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	--	--
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	--

RBL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for RBL1

Selected 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)

RBL1 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

miRNA Products:		Block miRNA regulation of human, mouse, rat RBL1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate RBL1 (see all 32):
		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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		GenScript: all cDNA clones in your preferred vector (see all 2): RBL1 (NM_002895)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBL1

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RBL1
		QuantiTect SYBR Green Assays in human, mouse, rat RBL1
		QuantiFast Probe-based Assays in human, mouse, rat RBL1

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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
selected tissues (see all 4) fully expand


Brain (Nervous System) fully expand to see all 2 entries
Adult Oligodendrocyte Precursor Cells Lateral Ventricle
Cerebellum

Ovary (Reproductive System)
Oviduct

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Bone (Muscoskeletal System)
Bone Marrow

RBL1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

RBL1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.207745

Pathway & Disease-focused RT² Profiler 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

Primer Products:		OriGene qPCR primer pairs and template standards for RBL1 OriGene qSTAR qPCR primer pairs in human, mouse for RBL1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RBL1
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		QuantiFast Probe-based Assays in human, mouse, rat RBL1

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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for RBL1 gene from Selected species (see all 16) 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)	75.54(n) 80.54(a)		419126 XM_417312.4 XP_417312.3
lizard (Anolis carolinensis)	Reptilia	RBL1⁶	retinoblastoma-like 1 (p107)	76(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	lin-35	45.37(n) 31.72(a)		172249 NM_059285.3 NP_491686.1
thale cress (Arabidopsis thaliana)	eudicotyledons	RBR1¹	RBR1	44.26(n) 29.76(a)		820408 NM_112064.4 NP_566417.3
rice (Oryza sativa)	Liliopsida	Os11g0533500¹	Os11g0533500	42.49(n) 30.03(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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: --

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing RBL1

DNA2.0 Custom Variant and Variant Library Synthesis for RBL1

(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.)
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OMIM gene information: 116957 OMIM disorders: --

Selected diseases for RBL1 (see all 36): About MalaCards

unilateral retinoblastoma bilateral retinoblastoma retinoblastoma cervical intraepithelial neoplasia

noma papilloma cervicitis papillary carcinoma

osteosarcoma burkitt's lymphoma lung cancer choroiditis

medulloblastoma esophagitis esophageal cancer intrahepatic cholangiocarcinoma

cholangiocarcinoma b-cell lymphomas astrocytoma melanoma

RBL1 for disorders About GeneDecksing

Selected 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 10 sources (see all 374):
(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. (Cell 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. (Mol. Cell. Biol. 2002)
Inhibition of cell proliferation by p107, a relative of the retinoblastoma protein. (PubMed id 8319904)^{1, 2, 9} Zhu L.... Harlow E. (Genes Dev. 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. (Mol. Cell. Biol. 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. (Mol. Cell. Biol. 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. (Mol. Med. 2010)
A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)^{1, 4} Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis. (PubMed id 19738611)^{1, 4} Cunningham J.M....Goode E.L. (Br. J. Cancer 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. (J. Bone Miner. Res. 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. (Cell Cycle 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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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Retinoblastoma-Like 1

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Retinoblastoma-Like 1

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