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Rb1 Gene Detail
Summary
  • Symbol
    Rb1
  • Name
    retinoblastoma 1
  • Synonyms
    pRb, Rb, Rb-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97874
    NCBI Gene: 19645
Location & Maps
more
  • Sequence Map
    Chr14:73183673-73325822 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      142150 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    RB1, retinoblastoma 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RB1, retinoblastoma 1
    Orthology source: HomoloGene
  • Synonyms
    OSRC, p105-Rb, pp110, PPP1R130, pRb, RB
  • Links
    NCBI Gene ID: 5925
    neXtProt AC: NX_P06400

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

Human Diseases
more
  • Diseases
    4 with human RB1 associations

Human Disease Mouse Models
       Bladder Cancer   OMIM: 109800
Osteogenic Sarcoma   OMIM: 259500 View 4 models
Retinoblastoma; RB1   OMIM: 180200 View 3 models
Small Cell Cancer of the Lung   OMIM: 182280 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    15 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    184 phenotypes from 20 alleles in 36 genetic backgrounds
    154 phenotypes from multigenic genotypes
    329 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    51
  • Chemically induced (other)
    1
  • Gene trapped
    24
  • Targeted
    25
  • Transgenic
    1
  • Genomic Mutations
    1 involving Rb1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    1016 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000013773 retinoblastoma-associated protein
  • InterPro Domains
    IPR013763 Cyclin-like
    IPR002720 Retinoblastoma-associated protein, A-box
    IPR002719 Retinoblastoma-associated protein, B-box
    IPR015030 Retinoblastoma-associated protein, C-terminal
    IPR024599 Retinoblastoma-associated protein, N-terminal
    IPR028309 Retinoblastoma protein family
Molecular
Reagents
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  • All nucleic 94
    Genomic 5
    cDNA 85
    Primer pair 3
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-13784, MGD-MRK-13785
References
more
  • Summaries
    All 560
    Developmental Gene Expression 84
    Diseases 15
    Gene Ontology 38
    Phenotypes 329
  • 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:227295 Liu H, et al., Redeployment of Myc and E2f1-3 drives Rb-deficient cell cycles. Nat Cell Biol. 2015 Aug;17(8):1036-48

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory