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Uqcrfs1 Gene Detail
Summary
  • Symbol
    Uqcrfs1
  • Name
    ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
  • Synonyms
    4430402G14Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913944
    NCBI Gene: 66694
  • Gene Overview
    MyGene.info: UQCRFS1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr13:30540308-30545362 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5055 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 13.23 cM, cytoband A3.3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    UQCRFS1, ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    UQCRFS1, ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    RIP1, RIS1, RISP, UQCR5
  • Links
    NCBI Gene ID: 7386
    neXtProt AC: NX_P47985
    UniProt: P47985

  • Chr Location
    19q12; chr19:29207260-29213229 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Uqcrfs1 mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 2 alleles in 3 genetic backgrounds
    16 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.
Mutant mice harboring a 3' UTR insertion that reduces expression specifically in skin acquire dark patches in the dorsal brown coat at 4-7 months of age. In heterozygotes, the dark patches eventually fill the entire dorsal region; in homozygotes, the dark patches eventually turn grey.
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000000670 VEGA Gene Model | MGI Sequence Detail 5055 C57BL/6J ±  kb
    transcript OTTMUST00000001296 VEGA | MGI Sequence Detail 1363 Not Applicable  
    polypeptide OTTMUSP00000000615 VEGA | MGI Sequence Detail 274 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      13 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000017126 cytochrome b-c1 complex subunit Rieske, mitochondrial
    • EC
    • InterPro Domains
      IPR004192 Cytochrome b-c1 complex subunit Rieske, transmembrane domain
      IPR037008 Cytochrome b-c1 complex subunit Rieske, transmembrane domain superfamily
      IPR011070 Globular protein, non-globular alpha/beta subunit
      IPR017941 Rieske [2Fe-2S] iron-sulphur domain
      IPR036922 Rieske [2Fe-2S] iron-sulphur domain superfamily
      IPR014349 Rieske iron-sulphur protein
      IPR005805 Rieske iron-sulphur protein, C-terminal
      IPR015248 Ubiquinol-cytochrome c reductase 8kDa, N-terminal
      IPR006317 Ubiquinol-cytochrome c reductase, iron-sulphur subunit
    Molecular
    Reagents
    less
    • All nucleic 392
      cDNA 392

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2145312
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 11
      Phenotypes 16
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:257856 Hilander T, et al., Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria. Nucleic Acids Res. 2018 Jan 25;46(2):849-860

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory