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Rb1cc1 Gene Detail
Summary
  • Symbol
    Rb1cc1
  • Name
    RB1-inducible coiled-coil 1
  • Synonyms
    2900055E04Rik, 5930404L04Rik, Cc1, Fip200, LaXp180, mKIAA0203
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341850
    NCBI Gene: 12421
  • Gene Overview
    MyGene.info: RB1CC1
  • Alliance
Location & Maps
more
  • Genetic Map
    Chromosome 1, 1.89 cM, cytoband A2
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    RB1CC1, RB1 inducible coiled-coil 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RB1CC1, RB1 inducible coiled-coil 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATG17, CC1, FIP200, PPP1R131
  • Links
    NCBI Gene ID: 9821
    neXtProt AC: NX_Q8TDY2
    UniProt: Q8TDY2

  • Chr Location
    8q11.23; chr8:52622458-52714466 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human RB1CC1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 2 alleles in 4 genetic backgrounds
    2 images
    24 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.
Homozygous mutation of this gene results in embryonic lethality at mid/late gestation associated with heart failure and liver degeneration.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000033467 VEGA Gene Model | MGI Sequence Detail 70452 C57BL/6J ±  kb
    transcript OTTMUST00000084091 VEGA | MGI Sequence Detail 7607 Not Applicable  
    polypeptide OTTMUSP00000045266 VEGA | MGI Sequence Detail 1588 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      504 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 18

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1920276, MGI:1924359
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 12
      Gene Ontology 12
      Phenotypes 24
    • Earliest
      J:51752 Maucuer A, et al., Stathmin interaction with a putative kinase and coiled-coil-forming protein domains. Proc Natl Acad Sci U S A. 1995 Apr 11;92(8):3100-4
    • Latest
      J:256150 Voronova A, et al., Migrating Interneurons Secrete Fractalkine to Promote Oligodendrocyte Formation in the Developing Mammalian Brain. Neuron. 2017 May 3;94(3):500-516.e9

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory