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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 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: cyclin-fold protein, RB type
Gene Tree: Rb1

Human
homologs
Human Homolog RB1, retinoblastoma 1
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
Disease Associations  (4) Diseases Associated with Human RB1
Mutations,
alleles, and
phenotypes
All mutations/alleles(47) : Gene trapped(24) Targeted(23)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Rb1 (6)    Alleles Annotated to Human Diseases(3)   
Interactions
Rb1 interacts with 320 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: (76 records)
Data Summary: Results (186)    Tissues (62)    Images (32)
Theiler Stages: 1, 2, 3, 4, 6, 7, 9, 11, 13, 14, 15, 17, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 6
RNA in situ 37
Northern blot 53
Western blot 79
RT-PCR 11
cDNA source data(82)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(94) Genomic(5) cDNA(85) Primer pair(3) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000036132 (Evidence)
Ensembl Gene ModelENSMUSG00000022105 (Evidence)
Entrez Gene19645 (Evidence)
UniGene273862
DFCITC1577332, TC1675173
DoTSDT.60100633, DT.60118750, DT.94254317
NIA Mouse Gene IndexU085478
Consensus CDS ProjectCCDS27267.1
International Mouse Knockout Project StatusRb1
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:211996 McFadden DG, et al., Genetic and clonal dissection of murine small cell lung carcinoma progression by genome sequencing. Cell. 2014 Mar 13;156(6):1298-311
All references(541)
Disease annotation references (1)
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
08/26/2014
MGI 5.19
The Jackson Laboratory