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FLASH GENE
Symbol UQCRFS1 contributors: mct - updated : 21-01-2020
HGNC name ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
HGNC id 12587
Corresponding disease
C3MTND1 mitochondrial complex III (CIII) deficiency 1
Location 19q12      Physical location : 29.698.166 - 29.704.136
Synonym name
  • cytochrome b-c1 complex subunit 5
  • epididymis secretory sperm binding protein
  • ubiquinol-cytochrome c reductase iron-sulfur subunit
  • Synonym symbol(s) RIS1, RIP1, RISP, UQCR5
    EC.number 1.10.2.2/7.1.1.8
    DNA
    TYPE functioning gene
    STRUCTURE 7.83 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    LOC388526 19 similar to CG14939-PA UQCRFS1 19q12 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 LOC342865 19q13.11 similar to contains transmembrane (TM) region POP4 19q13.11 similar to contains transmembrane (TM) region PLEKHF1 19q11 pleckstrin homology domain containing, family F (with FYVE domain) member 1 DKFZP762D096 CCNE1 19q12 cyclin E1 LOC126170 19q13.11 similar to peptidyl-Pro cis trans isomerase C19orf2 19q12 chromosome 19 open reading frame 2 TAF2GL 19q12-q13.11 Homo sapiens TAF2G-like gene (TAF2GL) on chromosome 19. LOC388527 19 LOC388527 KIAA0390 LOC388528 19 LOC388528 KIAA1474 LOC388529 19 LOC388529 LOC147941 19q13.12 hypothetical LOC147941 LOC147942 19q13.12 hypothetical LOC147942 LOC388530 19 LOC388530 ZNF507 19q13.12 zinc finger protein 507 LOC147991 19q13.12 hypothetical protein LOC147991 DKFZP434L0718 PDCD5 19q13.1 programmed cell death 5 LOC388531 19 similar to regulator of G protein signaling 9-binding protein; RGS9-1 anchor; RGS9 anchor protein LOC390916 19 similar to RP2 protein, testosterone-regulated - ricefield mouse (Mus caroli) FLJ13072 19q13.12 hypothetical gene FLJ13072 SLC7A9 19q13.1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 FLJ14640 19q13.12 hypothetical protein FLJ14640 MGC32020 19q13.12 hypothetical protein MGC32020 RHPN2 19q13.12 rhophilin, Rho GTPase binding protein 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3086 - 274 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouthtongue  highly
    Reproductivefemale systemovary  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    rieske (2Fe-2s) domain
    HOMOLOGY
    Homologene
    FAMILY UQCR11/QCR10 family
    CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • function as an iron-sulfur protein binding factor
  • appears to be involved in development of more aggressive phenotype of breast cancer
  • may be likely part of mitochondrial permeability transition(MPT) pores and dephosphorylation of UQCRFS1 may play a role in regulation of the MPT
  • is essential for Complex III (CIII) activity
  • UQCRFS1 is the last incorporated mitochondrial complex III (cIII) subunit, and its presence is essential for enzymatic activity
  • crucial role of UQCRFS1 for the catalytic function of CIII
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the ubiquinol-cytochrome C reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • works as a human Rieske Fe-S protein (UQCRFS1) chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane
  • HSCB, essential for Fe-S cluster biogenesis of SDHB, directly binds LYRM7, formerly described as a chaperone that stabilizes UQCRFS1 prior to its insertion into CIII
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) C3MTND1
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • cell-specific Uqcrfs1 knockout in regulatory T cells in mice led to an early-onset fatal inflammatory disease without any effect on the number of regulatory T cells