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Rb1
Gene Detail
Symbol

Name
ID
Rb1
retinoblastoma 1
MGI:97874
Synonyms
pRb, Rb, Rb-1
Feature Type
protein coding gene
Genetic Map
Chromosome 14
38.73 cM, cytoband D3
Detailed Genetic Map ± 1 cM


Mapping data(32)
Sequence Map
Chr14:73183673-73325822 bp, - strand
From VEGA annotation of GRCm38

  142150 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:272  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: RB1
Protein SuperFamily: cyclin-fold protein, RB type
Gene Tree: Rb1

Human
homologs
RB1, retinoblastoma 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5925
neXtProt AC: NX_P06400

Human Synonyms: OSRC, p105-Rb, pp110, PPP1R130, pRb, RB

Human Chr (Location): 13q14.2; chr13:48303747-48481890 (+)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human RB1

Mutations,
alleles, and
phenotypes
All mutations/alleles(49) : Gene trapped(24) Targeted(25)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele.
 
Mutations Annotated to Human Diseases (3)   
Interactions
Rb1 interacts with 319 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (81 annotations)
Process cell cycle, cell cycle arrest, ...
Component nucleus, PML body, ...
Function core promoter binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (81 records)
Data Summary: Results (186)    Tissues (62)    Images (32)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 6
RNA in situ 37
Northern blot 53
Western blot 79
RT-PCR 11
cDNA source data(82)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA RB1 ; Xenbase rb1 ; ZFIN rb1    NEW 
Molecular
reagents
All nucleic(94) Genomic(5) cDNA(85) Primer pair(3) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000036132 (Evidence)
Ensembl Gene Model ENSMUSG00000022105 (Evidence)
Entrez Gene 19645 (Evidence)
UniGene 273862
DFCI TC1577332, TC1675173
DoTS DT.60100633, DT.60118750, DT.94254317
NIA Mouse Gene Index U085478
Consensus CDS Project CCDS27267.1
International Mouse Phenotyping Consortium Status Rb1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036132 VEGA Gene Model | MGI Sequence Detail 142150 C57BL/6J ±  kb
transcript OTTMUST00000092874 VEGA | MGI Sequence Detail 4656 Not Applicable 
polypeptide OTTMUSP00000051423 VEGA | MGI Sequence Detail 921 Not Applicable 

For the selected sequences
All sequences(51) RefSeq(6) UniProt(7)
Polymorphisms
RFLP(6) : SNPs within 2kb(1016 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013763 Cyclin-like
InterPro IPR024599 Domain of unknown function DUF3452, retinoblastoma-associated
InterPro IPR015030 Rb C-terminal
InterPro IPR015652 Retinoblastoma-associated protein
InterPro IPR002720 Retinoblastoma-associated protein, A-box
InterPro IPR002719 Retinoblastoma-associated protein, B-box
Protein Ontology PR:000013773 retinoblastoma-associated protein
References
(Earliest) J:22884 Friend SH, et al., A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986 Oct 16-22;323(6089):643-6
(Latest) J:221400 Tong Y, et al., Cross-Species Genomics Identifies TAF12, NFYC, and RAD54L as Choroid Plexus Carcinoma Oncogenes. Cancer Cell. 2015 May 11;27(5):712-27
All references(554)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-13784, MGD-MRK-13785

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory