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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:30724295-30729299 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 13.23 cM, cytoband A3.3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    236 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913944
 protein coding gene Chr13:30724291-30729345 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020414
 protein coding gene Chr13:28400672-28406855 (-)
A/J MGP_AJ_G0020369
 protein coding gene Chr13:27682327-27687381 (-)
AKR/J MGP_AKRJ_G0020346
 protein coding gene Chr13:28282777-28287830 (-)
BALB/cJ MGP_BALBcJ_G0020364
 protein coding gene Chr13:27764417-27769517 (-)
C3H/HeJ MGP_C3HHeJ_G0020167
 protein coding gene Chr13:28295357-28300404 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020800
 protein coding gene Chr13:29396306-29401355 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018391
 protein coding gene Chr13:26081637-26086638 (-)
CAST/EiJ MGP_CASTEiJ_G0019684
 protein coding gene Chr13:27932217-27937250 (-)
CBA/J MGP_CBAJ_G0020123
 protein coding gene Chr13:30644930-30650643 (-)
DBA/2J MGP_DBA2J_G0020245
 protein coding gene Chr13:27215239-27221485 (-)
FVB/NJ MGP_FVBNJ_G0020230
 protein coding gene Chr13:26816972-26823884 (-)
LP/J MGP_LPJ_G0020322
 protein coding gene Chr13:28656192-28662025 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020256
 protein coding gene Chr13:30795844-30802424 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020841
 protein coding gene Chr13:27920712-27925774 (-)
PWK/PhJ MGP_PWKPhJ_G0019439
 protein coding gene Chr13:27364894-27370039 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019260
 protein coding gene Chr13:26821616-26826632 (-)
WSB/EiJ MGP_WSBEiJ_G0019746
 protein coding gene Chr13:28224761-28229780 (-)



Homology
more
  • Human Ortholog
    UQCRFS1, ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UQCRFS1, ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
  • Synonyms
    MC3DN10, RIP1, RIS1, RISP, UQCR5
  • Links
    NCBI Gene ID: 7386
    neXtProt AC: NX_P47985
    UniProt: P47985

  • Chr Location
    19q12; chr19:29205320-29213151 (-)  GRCh38
  • Human Ortholog
    UQCRFS1P1, ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1
  • Synonyms
    UQCRFSL1
  • Links
    NCBI Gene ID: 100128525
    UniProt: P0C7P4

  • Chr Location
    22q13.1; chr22:39875289-39876308 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Uqcrfs1 mouse models; 1 with human UQCRFS1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    21 phenotypes from 2 alleles in 3 genetic backgrounds
    23 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
less
  • All GO Annotations
    25
  • GO References
    16
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
    803
  • Tissues
    96
  • cDNA Data
    393
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66694 NCBI Gene Model | MGI Sequence Detail 5005 C57BL/6J ±  kb
    transcript NM_025710 RefSeq | MGI Sequence Detail 1313 C57BL/6  
    polypeptide Q9CR68 UniProt | EBI | MGI Sequence Detail 274 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000017126 cytochrome b-c1 complex subunit Rieske, mitochondrial
      (term hierarchy)
    • PDB
      8PW5, 8PW6, 8PW7
    • EC
      7.1.1.8
    • InterPro Domains
      IPR004192 Cytochrome b-c1 complex subunit Rieske, transmembrane domain
      IPR037008 Cytochrome bc1 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
      IPR006317 Ubiquinol-cytochrome c reductase, iron-sulphur subunit
      IPR015248 Ubiquinol-cytochrome c reductase iron-sulphur subunit, N-terminal
    • GlyGen
      Q9CR68 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 393
      cDNA 393

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2145312
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 16
      Phenotypes 23
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:355679 Vercellino I, et al., SCAF1 drives the compositional diversity of mammalian respirasomes. Nat Struct Mol Biol. 2024 Jul;31(7):1061-1071
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory