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Showing content from http://www.informatics.jax.org/marker/MGI:97874 below:

Rb1 MGI Mouse Gene Detail - MGI:97874

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

• Transcription Start Sites

  11 TSS

Location &
Maps

more

• Sequence Map

  Chr14:73430298-73563446 bp, - strand

  From NCBI annotation of GRCm39

  
  

• Genome Browsers

• Genetic Map

  Chromosome 14, 38.73 cM, cytoband D3

• Mapping Data

Strain

Comparison

more

• SNPs within 2kb

  7611 from dbSNP Build 142

• Strain Annotations

  18

• RFLP

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

• Chr Location

  13q14.2; chr13:48303744-48599436 (+)  GRCh38

• MGI Vertebrate Homology

• HCOP

  vertebrate homology predictions:

  RB1

• Gene Tree

Human Diseases

more

• Diseases

  8 with human RB1 associations

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

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• Phenotype Summary

  188

  phenotypes from 21 alleles in 38 genetic backgrounds

  
  169

  phenotypes from multigenic genotypes

  
  1

  images

  
  514

  phenotype references

  
  

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

• All Mutations and Alleles

• Chemically induced (ENU)

• Chemically induced (other)

• Endonuclease-mediated

• Gene trapped

• Targeted

• Transgenic

• Genomic Mutations

• Incidental Mutations

• Find Mice (IMSR)

• Comparison Matrix

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

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

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

• Blue cells = expressed in wild-type.
  Gray triangles = other expression annotations only
  (e.g. absence of expression or data from mutants).

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

• Other Mouse Links

• Other Vertebrate Links

Sequences &
Gene Models

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• All Sequences

• RefSeq

• UniProt

• CCDS

• Ensembl

• NCBI Gene

Protein
Information

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• UniProt

• Protein Ontology

• InterPro Domains

  IPR002720

  Retinoblastoma-associated protein, A-box

  IPR002719

  Retinoblastoma-associated protein, B-box

  IPR015030

  Retinoblastoma-associated protein, C-terminal

  IPR024599

  Retinoblastoma-associated protein, N-terminal

Other
Accession IDs

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MGD-MRK-13784, MGD-MRK-13785

References

more

• Summaries

  Developmental Gene Expression

  111

• 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:366618

  Guo J, et al., KMT2C deficiency drives transdifferentiation of double-negative prostate cancer and confer resistance to AR-targeted therapy. Cancer Cell. 2025 Apr 22;

TSS for Rb1:

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