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Rc3h1 Gene Detail
Summary
  • Symbol
    Rc3h1
  • Name
    RING CCCH (C3H) domains 1
  • Synonyms
    5730557L09Rik, roquin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685397
    NCBI Gene: 381305
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:160733988-160802548 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 69.75 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    323 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2685397
 protein coding gene Chr1:160733981-160802548 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016644
 protein coding gene Chr1:166143811-166222596 (+)
A/J MGP_AJ_G0016625
 protein coding gene Chr1:159389197-159458076 (+)
AKR/J MGP_AKRJ_G0016591
 protein coding gene Chr1:164257313-164325666 (+)
BALB/cJ MGP_BALBcJ_G0016586
 protein coding gene Chr1:159931965-160001157 (+)
C3H/HeJ MGP_C3HHeJ_G0016410
 protein coding gene Chr1:164455588-164524406 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017047
 protein coding gene Chr1:171778918-171865483 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014756
 protein coding gene Chr1:151529363-151568322 (+)
CAST/EiJ MGP_CASTEiJ_G0015990
 protein coding gene Chr1:164057674-164132685 (+)
CBA/J MGP_CBAJ_G0016385
 protein coding gene Chr1:177856924-177937728 (+)
DBA/2J MGP_DBA2J_G0016491
 protein coding gene Chr1:158365731-158437496 (+)
FVB/NJ MGP_FVBNJ_G0016489
 protein coding gene Chr1:156773234-156845836 (+)
LP/J MGP_LPJ_G0016562
 protein coding gene Chr1:167236972-167314023 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016514
 protein coding gene Chr1:185427714-185520017 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017083
 protein coding gene Chr1:164069607-164142915 (+)
PWK/PhJ MGP_PWKPhJ_G0015776
 protein coding gene Chr1:157515318-157585677 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015563
 protein coding gene Chr1:162968502-163037983 (+)
WSB/EiJ MGP_WSBEiJ_G0016052
 protein coding gene Chr1:164258387-164332482 (+)



Homology
more
  • Human Ortholog
    RC3H1, ring finger and CCCH-type domains 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RC3H1, ring finger and CCCH-type domains 1
  • Synonyms
    FHL6, IMDSHY, RNF198, ROQUIN
  • Links
    NCBI Gene ID: 149041
    neXtProt AC: NX_Q5TC82
    UniProt: Q5TC82

  • Chr Location
    1q25.1; chr1:173931084-174022357 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Rc3h1 mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    64 phenotypes from 6 alleles in 11 genetic backgrounds
    22 phenotypes from multigenic genotypes
    6 images
    48 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.
A single recessive mutation on this gene resulted in severe autoimmune disease with phenotype resembling human systemic lupus erythematosus.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    62
  • GO References
    15
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
non-membrane-bounded 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
    706
  • cDNA Data
    72
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040423 Ensembl Gene Model | MGI Sequence Detail 68561 C57BL/6J ±  kb
    transcript ENSMUST00000161609 Ensembl | MGI Sequence Detail 11006 Not Applicable  
    polypeptide ENSMUSP00000124871 Ensembl | MGI Sequence Detail 1130 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 72
      cDNA 72

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1917908, MGI:2138726
    References
    more
    • Summaries
      All 78
      Diseases 2
      Gene Ontology 15
      Phenotypes 48
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:324878 Behrens G, et al., Disrupting Roquin-1 interaction with Regnase-1 induces autoimmunity and enhances antitumor responses. Nat Immunol. 2021 Dec;22(12):1563-1576
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory