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Rb1 Gene Detail
Summary
  • Symbol
    Rb1
  • Name
    RB transcriptional corepressor 1
  • Synonyms
    pRb, Rb, Rb-1, retinoblastoma 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97874
    NCBI Gene: 19645
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:73430298-73563446 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 38.73 cM, cytoband D3
  • Mapping Data
    33 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3786 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97874
 protein coding gene Chr14:73421113-73563446 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021555
 protein coding gene Chr14:67928036-68071753 (-)
A/J MGP_AJ_G0021514
 protein coding gene Chr14:66439226-66581729 (-)
AKR/J MGP_AKRJ_G0021490
 protein coding gene Chr14:68395110-68536752 (-)
BALB/cJ MGP_BALBcJ_G0021520
 protein coding gene Chr14:66206050-66341795 (-)
C3H/HeJ MGP_C3HHeJ_G0021297
 protein coding gene Chr14:68114815-68263935 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021961
 protein coding gene Chr14:70916369-71063708 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019499
 protein coding gene Chr14:64163554-64298761 (-)
CAST/EiJ MGP_CASTEiJ_G0020815
 protein coding gene Chr14:64779974-64927667 (-)
CBA/J MGP_CBAJ_G0021265
 protein coding gene Chr14:73145577-73294140 (-)
DBA/2J MGP_DBA2J_G0021388
 protein coding gene Chr14:65822010-65962474 (-)
FVB/NJ MGP_FVBNJ_G0021366
 protein coding gene Chr14:65205277-65341634 (-)
LP/J MGP_LPJ_G0021458
 protein coding gene Chr14:69097864-69240946 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021395
 protein coding gene Chr14:71977985-72128579 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021983
 protein coding gene Chr14:67663127-67808793 (-)
PWK/PhJ MGP_PWKPhJ_G0020558
 protein coding gene Chr14:62595366-62731907 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020393
 protein coding gene Chr14:63633902-63779038 (-)
WSB/EiJ MGP_WSBEiJ_G0020868
 protein coding gene Chr14:68017589-68159629 (-)



Homology
more
  • Human Ortholog
    RB1, RB transcriptional corepressor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RB1, RB transcriptional corepressor 1
  • Synonyms
    OSRC, p105-Rb, p110-RB1, pp110, PPP1R130, pRb, RB
  • Links
    NCBI Gene ID: 5925
    neXtProt AC: NX_P06400
    UniProt: P06400

  • Chr Location
    13q14.2; chr13:48303744-48599436 (+)  GRCh38
Human Diseases
more
  • Diseases
    8 with human RB1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
 View 6 models
IDs
IDs
 View 3 models
IDs
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    18 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    188 phenotypes from 21 alleles in 38 genetic backgrounds
    169 phenotypes from multigenic genotypes
    1 images
    499 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    153
  • GO References
    49
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1104
  • Tissues
    157
  • cDNA Data
    85
  • Literature Summary
    111
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19645 NCBI Gene Model | MGI Sequence Detail 133149 C57BL/6J ±  kb
    transcript NM_009029 RefSeq | MGI Sequence Detail 4673 ZRU/MplStud  
    polypeptide P13405 UniProt | EBI | MGI Sequence Detail 921 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 106
      Genomic 5
      cDNA 88
      Primer pair 11
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-13784, MGD-MRK-13785
    References
    more
    • Summaries
      All 825
      Developmental Gene Expression 111
      Diseases 18
      Gene Ontology 49
      Phenotypes 499
    • 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:355211 Flesken-Nikitin A, et al., Pre-ciliated tubal epithelial cells are prone to initiation of high-grade serous ovarian carcinoma. Nat Commun. 2024 Oct 5;15(1):8641
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory