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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:6284858-6346599 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 1.89 cM, cytoband A2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1582 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341850
 protein coding gene Chr1:6276421-6346872 (+)
129S1/SvImJ MGP_129S1SvImJ_G0015818
 protein coding gene Chr1:3387353-3459425 (+)
A/J MGP_AJ_G0015800
 protein coding gene Chr1:3351408-3421089 (+)
AKR/J MGP_AKRJ_G0015759
 protein coding gene Chr1:3322769-3394896 (+)
BALB/cJ MGP_BALBcJ_G0015756
 protein coding gene Chr1:3239727-3309383 (+)
C3H/HeJ MGP_C3HHeJ_G0015590
 protein coding gene Chr1:3303829-3372689 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016208
 protein coding gene Chr1:3450433-3531362 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0013930
 protein coding gene Chr1:2865673-2936306 (+)
CAST/EiJ MGP_CASTEiJ_G0015170
 protein coding gene Chr1:3491345-3563665 (+)
CBA/J MGP_CBAJ_G0015564
 protein coding gene Chr1:3609980-3685227 (+)
DBA/2J MGP_DBA2J_G0015662
 protein coding gene Chr1:3194537-3263585 (+)
FVB/NJ MGP_FVBNJ_G0015667
 protein coding gene Chr1:3146218-3215647 (+)
LP/J MGP_LPJ_G0015735
 protein coding gene Chr1:3452083-3538423 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015686
 protein coding gene Chr1:3869393-3960570 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016255
 protein coding gene Chr1:3288821-3359231 (+)
PWK/PhJ MGP_PWKPhJ_G0014954
 protein coding gene Chr1:3081440-3159229 (+)
SPRET/EiJ MGP_SPRETEiJ_G0014734
 protein coding gene Chr1:3469387-3545253 (+)
WSB/EiJ MGP_WSBEiJ_G0015234
 protein coding gene Chr1:3243236-3315138 (+)



Homology
more
  • Human Ortholog
    RB1CC1, RB1 inducible coiled-coil 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RB1CC1, RB1 inducible coiled-coil 1
  • Synonyms
    ATG17, CC1, FIP200, PPP1R131
  • Links
    NCBI Gene ID: 9821
    neXtProt AC: NX_Q8TDY2
    UniProt: Q8TDY2

  • Chr Location
    8q11.23; chr8:52622458-52745843 (-)  GRCh38
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
    74 phenotypes from 3 alleles in 5 genetic backgrounds
    2 images
    61 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. Conditional KO in the retinal pigment epithelium results in defective autophagy in and degeneration of the RPE, as well as degeneration of the retinal outer nuclear layer.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    63
  • GO References
    21
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
    777
  • Tissues
    42
  • cDNA Data
    15
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12421 NCBI Gene Model | MGI Sequence Detail 61742 C57BL/6J ±  kb
    transcript NM_009826 RefSeq | MGI Sequence Detail 7046 C57BL/6  
    polypeptide Q9ESK9 UniProt | EBI | MGI Sequence Detail 1588 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • Protein Ontology
      PR:000013774 RB1-inducible coiled-coil protein 1
      (term hierarchy)
    • InterPro Domains
      IPR040040 Autophagy-related protein 11
      IPR019460 Autophagy-related protein 11, C-terminal
      IPR029071 Ubiquitin-like domain superfamily
    • GlyGen
      Q9ESK9 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 21
      Genomic 1
      cDNA 18
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1920276, MGI:1924359
    References
    more
    • Summaries
      All 122
      Developmental Gene Expression 17
      Gene Ontology 21
      Phenotypes 61
    • 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:350006 Liu H, et al., VAMP2 controls murine epidermal differentiation and carcinogenesis by regulation of nucleophagy. Dev Cell. 2024 May 22;
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory