id: P07919
gene_symbol: UQCRH
product_type: PROTEIN
status: INITIALIZED
taxon:
  id: NCBITaxon:9606
  label: Homo sapiens
description: >-
  UQCRH (ubiquinol-cytochrome c reductase hinge protein; cytochrome b-c1 complex
  subunit 6, also called Complex III subunit 6/VIII or the "hinge" protein) is a
  small (91-residue precursor; 14-91 mature) nuclear-encoded structural subunit of
  the mitochondrial respiratory chain Complex III (cytochrome bc1 / ubiquinol-cytochrome
  c oxidoreductase). It is imported into mitochondria via an unusually acidic N-terminal
  transit peptide and resides as a peripheral membrane protein on the intermembrane-space
  side of the mitochondrial inner membrane. UQCRH is one of the low-molecular-weight,
  non-catalytic subunits of the obligate CIII dimer; the catalytic redox centres are
  carried by cytochrome b (MT-CYB), cytochrome c1 (CYC1) and the Rieske iron-sulfur
  protein (UQCRFS1). The acidic hinge protein forms the docking interface that
  "hinges" cytochrome c to cytochrome c1, and is required for correct interaction and
  electron transfer between cytochrome c1 and soluble cytochrome c. Loss of UQCRH
  destabilizes the assembled holoenzyme, reduces Complex III catalytic activity, and
  causes mitochondrial complex III deficiency (nuclear type 11), presenting with lactic
  acidosis, hyperammonaemia, hypoglycaemia and encephalopathy. Its overall role is
  therefore structural/assembly and electron-transfer facilitation within Complex III
  during aerobic respiration and oxidative phosphorylation.
existing_annotations:
- term:
    id: GO:0045275
    label: respiratory chain complex III
  evidence_type: IBA
  original_reference_id: GO_REF:0000033
  qualifier: part_of
  review:
    summary: >-
      Phylogenetically-inferred assignment of UQCRH as a component of respiratory
      chain Complex III (cytochrome bc1). This is the correct, specific complex for
      this subunit and is strongly supported by structural, biochemical and disease
      evidence.
    action: ACCEPT
    reason: >-
      UQCRH is a bona fide low-molecular-weight subunit of the 11-subunit cytochrome
      b-c1 complex (CIII); this is confirmed experimentally by cryo-EM structure and
      by the CIII deficiency caused by its loss. GO:0045275 is the current, correct
      term (the legacy GO:0005750 is obsolete).
    supported_by:
    - reference_id: PMID:34750991
      supporting_text: >-
        encodes a structural complex III (CIII) subunit
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        6 low-molecular
        weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8,
- term:
    id: GO:0006122
    label: mitochondrial electron transport, ubiquinol to cytochrome c
  evidence_type: IBA
  original_reference_id: GO_REF:0000033
  qualifier: involved_in
  review:
    summary: >-
      Phylogenetically-inferred involvement in the Complex III reaction that transfers
      electrons from ubiquinol to cytochrome c. This is the core biological process
      of Complex III and the most specific correct BP term for this subunit.
    action: ACCEPT
    reason: >-
      As a subunit of CIII, UQCRH participates in the ubiquinol-to-cytochrome-c
      electron transport reaction; the hinge protein specifically mediates the
      cytochrome c1-cytochrome c docking/electron-transfer step. This is the
      representative core BP.
    supported_by:
    - reference_id: PMID:34750991
      supporting_text: >-
        CIII transports electrons from ubiquinol to cytochrome c and translocates
        protons across the inner mitochondrial membrane
    - reference_id: PMID:2826252
      supporting_text: >-
        Mitochondrial hinge protein is a subunit of ubiquinol-cytochrome-c reductase
        in
- term:
    id: GO:0005743
    label: mitochondrial inner membrane
  evidence_type: IEA
  original_reference_id: GO_REF:0000044
  qualifier: located_in
  review:
    summary: >-
      Subcellular-location mapping to the mitochondrial inner membrane, consistent
      with UniProt annotation of UQCRH as a peripheral inner-membrane protein on the
      intermembrane side.
    action: ACCEPT
    reason: >-
      Correct and specific localization for a CIII subunit; independently supported
      by experimental IDA (PMID:28844695, ComplexPortal) and by UniProt subcellular
      location.
    supported_by:
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        Mitochondrion inner membrane
- term:
    id: GO:0006122
    label: mitochondrial electron transport, ubiquinol to cytochrome c
  evidence_type: IEA
  original_reference_id: GO_REF:0000002
  qualifier: involved_in
  review:
    summary: >-
      InterPro2GO mapping (IPR003422, Cyt_b-c1_6 / hinge domain) to the CIII electron
      transport process. Duplicates the IBA core BP term via an orthogonal, domain-based
      line of evidence.
    action: ACCEPT
    reason: >-
      The hinge-domain signature correctly implies participation in ubiquinol-to-cytochrome-c
      electron transport; consistent with the IBA annotation. Duplicate of the core BP
      is acceptable.
    supported_by:
    - reference_id: PMID:2826252
      supporting_text: >-
        Mitochondrial hinge protein is a subunit of ubiquinol-cytochrome-c reductase
        in
- term:
    id: GO:0016020
    label: membrane
  evidence_type: IEA
  original_reference_id: GO_REF:0000117
  qualifier: located_in
  review:
    summary: >-
      Generic ARBA electronic annotation to "membrane". This is a high-level parent
      of the specific and experimentally supported mitochondrial inner membrane term.
    action: MARK_AS_OVER_ANNOTATED
    reason: >-
      Not wrong, but uninformatively general: the specific location (GO:0005743
      mitochondrial inner membrane) is well established, so the bare "membrane" term
      adds no information and should not be treated as a core localization.
    supported_by:
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        Mitochondrion inner membrane
- term:
    id: GO:0098803
    label: respiratory chain complex
  evidence_type: IEA
  original_reference_id: GO_REF:0000117
  qualifier: part_of
  review:
    summary: >-
      ARBA electronic annotation placing UQCRH in a (generic) respiratory chain
      complex. Correct but is the parent of the specific term respiratory chain
      complex III (GO:0045275).
    action: KEEP_AS_NON_CORE
    reason: >-
      Accurate but less specific than GO:0045275, which captures the exact complex.
      Retain as a valid but non-core (redundant-parent) annotation.
    supported_by:
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        6 low-molecular
        weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8,
- term:
    id: GO:1902600
    label: proton transmembrane transport
  evidence_type: IEA
  original_reference_id: GO_REF:0000108
  qualifier: involved_in
  review:
    summary: >-
      Logically-inferred BP from the quinol-cytochrome-c reductase activity term:
      Complex III couples electron transfer to translocation of protons across the
      inner membrane in the Q cycle.
    action: KEEP_AS_NON_CORE
    reason: >-
      The proton translocation is a genuine, complex-level consequence of the CIII
      reaction, but UQCRH is a non-catalytic hinge subunit that does not itself
      conduct protons; this is a context/complex-level role rather than the subunit's
      core function. Keep as non-core.
    supported_by:
    - reference_id: PMID:34750991
      supporting_text: >-
        CIII transports electrons from ubiquinol to cytochrome c and translocates
        protons across the inner mitochondrial membrane
    - reference_id: Reactome:R-HSA-164651
      supporting_text: >-
        complex III transfers electrons from ubiquinol to cytochrome c, linking this
        process to translocation of protons across the membrane
- term:
    id: GO:0005515
    label: protein binding
  evidence_type: IPI
  original_reference_id: PMID:25416956
  qualifier: enables
  review:
    summary: >-
      Bare "protein binding" from a proteome-scale binary interactome (Y2H) screen.
      The reported partners (e.g. ARL8A, RNF24, ENTREP3) are not Complex III subunits.
    action: MARK_AS_OVER_ANNOTATED
    reason: >-
      "Protein binding" is uninformative and does not describe a molecular function;
      the high-throughput binary interactors are cytosolic/endosomal proteins with no
      obvious physiological relationship to a mitochondrial inner-membrane CIII subunit,
      so this is likely a non-specific/spurious interaction. Retained (not removed, per
      policy for experimental IPIs) but flagged as over-annotation.
    supported_by:
    - reference_id: PMID:25416956
      supporting_text: A proteome-scale map of the human interactome network.
- term:
    id: GO:0005515
    label: protein binding
  evidence_type: IPI
  original_reference_id: PMID:32296183
  qualifier: enables
  review:
    summary: >-
      Bare "protein binding" from a reference binary-interactome (HuRI, Y2H) map.
      Partners (e.g. NDFIP1, NDFIP2, PRRG1) are not Complex III components.
    action: MARK_AS_OVER_ANNOTATED
    reason: >-
      Same rationale as the other protein-binding IPI: uninformative MF term and
      non-CIII high-throughput binary partners with no established physiological role
      for this inner-membrane subunit. Retained but flagged as over-annotation.
    supported_by:
    - reference_id: PMID:32296183
      supporting_text: A reference map of the human binary protein interactome.
- term:
    id: GO:0005743
    label: mitochondrial inner membrane
  evidence_type: IDA
  original_reference_id: PMID:28844695
  qualifier: located_in
  review:
    summary: >-
      Direct assay (ComplexPortal, from cryo-EM of the human respiratory megacomplex)
      localizing UQCRH to the mitochondrial inner membrane as part of Complex III.
    action: ACCEPT
    reason: >-
      Experimental (IDA) localization to the correct, specific compartment; the cryo-EM
      structure resolves UQCRH within the membrane-embedded CIII dimer. Core localization.
    supported_by:
    - reference_id: PMID:28844695
      supporting_text: >-
        are positioned to accept electrons on the surface of the c1 state CIII dimer
- term:
    id: GO:0006122
    label: mitochondrial electron transport, ubiquinol to cytochrome c
  evidence_type: NAS
  original_reference_id: PMID:28844695
  qualifier: involved_in
  review:
    summary: >-
      ComplexPortal (NAS) involvement of UQCRH in the ubiquinol-to-cytochrome-c
      electron transport reaction of Complex III.
    action: ACCEPT
    reason: >-
      Correct core BP for a CIII subunit; the megacomplex structure shows cytochrome c
      docking on the c1-state CIII dimer, the reaction in which UQCRH's hinge role
      operates. Duplicate of the core BP term.
    supported_by:
    - reference_id: PMID:28844695
      supporting_text: >-
        are positioned to accept electrons on the surface of the c1 state CIII dimer
- term:
    id: GO:0045275
    label: respiratory chain complex III
  evidence_type: IPI
  original_reference_id: PMID:28844695
  qualifier: part_of
  review:
    summary: >-
      ComplexPortal (IPI) assignment of UQCRH as a part of respiratory chain Complex III,
      based on the cryo-EM megacomplex structure.
    action: ACCEPT
    reason: >-
      Experimentally supported membership of the correct, specific complex; consistent
      with the IBA annotation and with UniProt's 11-subunit CIII composition. Core CC.
    supported_by:
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        6 low-molecular
        weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8,
- term:
    id: GO:0045333
    label: cellular respiration
  evidence_type: NAS
  original_reference_id: PMID:28844695
  qualifier: involved_in
  review:
    summary: >-
      ComplexPortal (NAS) involvement in cellular respiration, reflecting Complex III's
      role in the respiratory electron transport chain.
    action: KEEP_AS_NON_CORE
    reason: >-
      Correct high-level BP context, but broader than the specific core term GO:0006122;
      keep as valid non-core.
    supported_by:
    - reference_id: PMID:34750991
      supporting_text: >-
        CIII transports electrons from ubiquinol to cytochrome c and translocates
        protons across the inner mitochondrial membrane
- term:
    id: GO:0005739
    label: mitochondrion
  evidence_type: HTP
  original_reference_id: PMID:34800366
  qualifier: located_in
  review:
    summary: >-
      High-throughput mitochondrial proteome localization to the mitochondrion.
      Correct but a generic parent of the specific inner-membrane localization.
    action: KEEP_AS_NON_CORE
    reason: >-
      Accurate compartment but less specific than GO:0005743 (mitochondrial inner
      membrane), which is experimentally established; keep as valid non-core.
    supported_by:
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        Mitochondrion inner membrane
- term:
    id: GO:0005743
    label: mitochondrial inner membrane
  evidence_type: ISS
  original_reference_id: GO_REF:0000024
  qualifier: located_in
  review:
    summary: >-
      Sequence-similarity transfer (from ortholog UniProtKB:P00127) of the mitochondrial
      inner membrane localization.
    action: ACCEPT
    reason: >-
      Correct, specific localization; consistent with experimental IDA and UniProt.
      Duplicate of the core CC term via orthology.
    supported_by:
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        Mitochondrion inner membrane
- term:
    id: GO:0008121
    label: quinol-cytochrome-c reductase activity
  evidence_type: IMP
  original_reference_id: PMID:34750991
  qualifier: enables
  review:
    summary: >-
      IMP based on the homozygous two-exon UQCRH deletion, which reduces Complex III
      (quinol-cytochrome-c reductase) activity to ~50-60% of control. This is the
      whole-complex catalytic activity; UQCRH is a non-catalytic structural/hinge
      subunit, so the loss of activity reflects a structural/assembly requirement,
      not catalysis by UQCRH itself.
    action: MARK_AS_OVER_ANNOTATED
    reason: >-
      The catalytic centres of CIII are carried by cytochrome b (MT-CYB), cytochrome c1
      (CYC1) and the Rieske protein (UQCRFS1); UQCRH is explicitly a structural subunit
      whose precise function "remains to be fully elucidated" and which "hinges"
      cytochrome c to c1. The IMP phenotype (loss of UQCRH lowers CIII activity) is
      fully explained by a structural/assembly role, and does not demonstrate that UQCRH
      itself enables quinol-cytochrome-c reductase catalysis. Assigning the complex's
      catalytic MF to this non-catalytic subunit is an over-annotation; the subunit's
      MF is better captured as structural molecule activity (GO:0005198) contributing to
      the complex activity. Retained (experimental) but flagged.
    supported_by:
    - reference_id: PMID:34750991
      supporting_text: >-
        confirmed a specific decrease of CIII activity to approximately 60% compared
        to control cell lines
    - reference_id: PMID:34750991
      supporting_text: >-
        remains to be fully elucidated
    - reference_id: PMID:2826252
      supporting_text: >-
        and 'hinges' cytochrome c with cytochrome c1
- term:
    id: GO:0005739
    label: mitochondrion
  evidence_type: HDA
  original_reference_id: PMID:20833797
  qualifier: located_in
  review:
    summary: >-
      High-throughput direct assay (mitochondrial phosphoproteome of human muscle)
      localizing UQCRH to the mitochondrion.
    action: KEEP_AS_NON_CORE
    reason: >-
      Correct but generic parent of the specific inner-membrane localization; keep as
      valid non-core.
    supported_by:
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        Mitochondrion inner membrane
- term:
    id: GO:0005743
    label: mitochondrial inner membrane
  evidence_type: TAS
  original_reference_id: Reactome:R-HSA-164651
  qualifier: located_in
  review:
    summary: >-
      Reactome (TAS) localization to the mitochondrial inner membrane, from the pathway
      describing electron transfer from ubiquinol to cytochrome c by Complex III.
    action: ACCEPT
    reason: >-
      Correct, specific localization consistent with experimental and UniProt evidence.
      Duplicate of the core CC term.
    supported_by:
    - reference_id: Reactome:R-HSA-164651
      supporting_text: >-
        complex III transfers electrons from ubiquinol to cytochrome c, linking this
        process to translocation of protons across the membrane
- term:
    id: GO:0005743
    label: mitochondrial inner membrane
  evidence_type: TAS
  original_reference_id: Reactome:R-HSA-9906017
  qualifier: located_in
  review:
    summary: >-
      Reactome (TAS) inner-membrane localization from the CIII assembly pathway
      (UQCRFS1 processing). Correct localization for the assembled complex context.
    action: ACCEPT
    reason: >-
      Correct, specific localization; consistent with all other lines of evidence.
      Duplicate of the core CC term.
    supported_by:
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        Mitochondrion inner membrane
- term:
    id: GO:0005743
    label: mitochondrial inner membrane
  evidence_type: TAS
  original_reference_id: Reactome:R-HSA-9906042
  qualifier: located_in
  review:
    summary: >-
      Reactome (TAS) inner-membrane localization from the CIII assembly pathway
      (TTC19 clearance of UQCRFS1 fragments). Correct localization for the complex context.
    action: ACCEPT
    reason: >-
      Correct, specific localization; consistent with all other evidence. Duplicate of
      the core CC term.
    supported_by:
    - reference_id: file:human/UQCRH/UQCRH-uniprot.txt
      supporting_text: >-
        Mitochondrion inner membrane
- term:
    id: GO:0006119
    label: oxidative phosphorylation
  evidence_type: TAS
  original_reference_id: PMID:2826252
  qualifier: involved_in
  review:
    summary: >-
      TAS involvement in oxidative phosphorylation, reflecting Complex III's place in
      the OXPHOS electron transport chain that drives ATP synthesis.
    action: KEEP_AS_NON_CORE
    reason: >-
      Correct high-level BP context but broader than the specific core term GO:0006122;
      keep as valid non-core.
    supported_by:
    - reference_id: PMID:34750991
      supporting_text: >-
        CIII transports electrons from ubiquinol to cytochrome c and translocates
        protons across the inner mitochondrial membrane
- term:
    id: GO:0008121
    label: quinol-cytochrome-c reductase activity
  evidence_type: TAS
  original_reference_id: PMID:2826252
  qualifier: enables
  review:
    summary: >-
      TAS (PINC) assignment of quinol-cytochrome-c reductase activity, i.e. the whole
      Complex III catalytic activity, to UQCRH. UQCRH is the non-catalytic hinge subunit.
    action: MARK_AS_OVER_ANNOTATED
    reason: >-
      As with the IMP annotation to the same term, this attributes the complex's
      catalytic MF to a structural, non-catalytic subunit. The 1987 paper itself
      describes UQCRH only as a subunit that "hinges" cytochrome c to c1, not as the
      catalytic entity. Better represented as structural molecule activity contributing
      to the complex activity; flagged as over-annotation.
    supported_by:
    - reference_id: PMID:2826252
      supporting_text: >-
        and 'hinges' cytochrome c with cytochrome c1
- term:
    id: GO:0009060
    label: aerobic respiration
  evidence_type: TAS
  original_reference_id: PMID:2826252
  qualifier: involved_in
  review:
    summary: >-
      TAS involvement in aerobic respiration, reflecting the role of the ubiquinol-cytochrome-c
      reductase in the aerobic respiratory chain.
    action: KEEP_AS_NON_CORE
    reason: >-
      Correct high-level BP context but broader than the specific core term GO:0006122;
      keep as valid non-core.
    supported_by:
    - reference_id: PMID:2826252
      supporting_text: >-
        Mitochondrial hinge protein is a subunit of ubiquinol-cytochrome-c reductase
        in
- term:
    id: GO:0098803
    label: respiratory chain complex
  evidence_type: TAS
  original_reference_id: PMID:2826252
  qualifier: located_in
  review:
    summary: >-
      TAS assignment of UQCRH to a respiratory chain complex. Correct but generic parent
      of the specific respiratory chain complex III term.
    action: KEEP_AS_NON_CORE
    reason: >-
      Accurate but less specific than GO:0045275 (respiratory chain complex III); keep
      as valid non-core.
    supported_by:
    - reference_id: PMID:2826252
      supporting_text: >-
        Mitochondrial hinge protein is a subunit of ubiquinol-cytochrome-c reductase
        in
core_functions:
- description: >-
    Non-catalytic structural (hinge) subunit of mitochondrial respiratory Complex III
    (cytochrome bc1); provides the acidic docking interface that positions cytochrome c
    against cytochrome c1, contributing to the quinol-cytochrome-c reductase activity of
    the assembled complex and stabilizing the holoenzyme.
  molecular_function:
    id: GO:0005198
    label: structural molecule activity
  directly_involved_in:
  - id: GO:0006122
    label: mitochondrial electron transport, ubiquinol to cytochrome c
  locations:
  - id: GO:0005743
    label: mitochondrial inner membrane
  in_complex:
    id: GO:0045275
    label: respiratory chain complex III
  contributes_to_molecular_function:
    id: GO:0008121
    label: quinol-cytochrome-c reductase activity
  supported_by:
  - reference_id: PMID:2826252
    supporting_text: >-
      and 'hinges' cytochrome c with cytochrome c1
  - reference_id: PMID:34750991
    supporting_text: >-
      encodes a structural complex III (CIII) subunit
proposed_new_terms: []
suggested_questions:
- question: >-
    Does UQCRH have any role beyond CIII assembly/structure and cytochrome c docking
    (e.g. a regulatory or supercomplex-organizing role), given the altered supercomplex
    distribution observed upon its loss?
suggested_experiments:
- description: >-
    Structure-guided mutagenesis of the acidic N-terminal region and the cytochrome c
    docking surface of UQCRH to quantify effects on cytochrome c1-cytochrome c electron
    transfer versus overall CIII assembly and stability.
  hypothesis: >-
    The acidic hinge region of UQCRH is specifically required for cytochrome c docking
    and c1-to-c electron transfer, separable from its contribution to CIII holoenzyme
    assembly/stability.
references:
- id: GO_REF:0000002
  title: Gene Ontology annotation through association of InterPro records with GO
    terms
  findings: []
- id: GO_REF:0000024
  title: Manual transfer of experimentally-verified manual GO annotation data to orthologs
    by curator judgment of sequence similarity
  findings: []
- id: GO_REF:0000033
  title: Annotation inferences using phylogenetic trees
  findings: []
- id: GO_REF:0000044
  title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location
    vocabulary mapping, accompanied by conservative changes to GO terms applied by
    UniProt
  findings: []
- id: GO_REF:0000108
  title: Automatic assignment of GO terms using logical inference, based on on inter-ontology
    links
  findings: []
- id: GO_REF:0000117
  title: Electronic Gene Ontology annotations created by ARBA machine learning models
  findings: []
- id: PMID:20833797
  title: Phosphoproteome analysis of functional mitochondria isolated from resting
    human muscle reveals extensive phosphorylation of inner membrane protein complexes
    and enzymes.
  findings: []
  reference_review:
    relevance: LOW
    correctness: VERIFIED
    review_notes: >-
      High-throughput mitochondrial phosphoproteome; supports mitochondrion localization
      only (HDA).
- id: PMID:25416956
  title: A proteome-scale map of the human interactome network.
  findings: []
  reference_review:
    relevance: LOW
    correctness: VERIFIED
    review_notes: >-
      Proteome-scale binary interactome; source of a bare protein-binding IPI with
      non-CIII partners; not informative for UQCRH's core function.
- id: PMID:2826252
  title: An extremely acidic amino-terminal presequence of the precursor for the human
    mitochondrial hinge protein.
  findings: []
  reference_review:
    relevance: HIGH
    correctness: VERIFIED
    review_notes: >-
      Original cloning of the human hinge protein; establishes it as a CIII subunit that
      "hinges" cytochrome c to cytochrome c1 and has an unusually acidic import presequence.
- id: PMID:28844695
  title: Architecture of Human Mitochondrial Respiratory Megacomplex I(2)III(2)IV(2).
  findings: []
  reference_review:
    relevance: HIGH
    correctness: VERIFIED
    review_notes: >-
      Cryo-EM of the human respiratory megacomplex; resolves UQCRH within the CIII dimer
      in the inner membrane; basis for ComplexPortal IDA/IPI/NAS annotations.
- id: PMID:32296183
  title: A reference map of the human binary protein interactome.
  findings: []
  reference_review:
    relevance: LOW
    correctness: VERIFIED
    review_notes: >-
      HuRI reference binary interactome; source of a bare protein-binding IPI with
      non-CIII partners; not informative for UQCRH's core function.
- id: PMID:34750991
  title: 'Characterising a homozygous two-exon deletion in UQCRH: comparing human
    and mouse phenotypes.'
  findings: []
  reference_review:
    relevance: HIGH
    correctness: VERIFIED
    review_notes: >-
      First disease report and functional (IMP) study; homozygous UQCRH deletion causes
      CIII deficiency (~50-60% residual activity) in patients and a matching mouse model;
      explicitly describes UQCRH as a structural CIII subunit that links cytochromes c and c1.
- id: PMID:34800366
  title: Quantitative high-confidence human mitochondrial proteome and its dynamics
    in cellular context.
  findings: []
  reference_review:
    relevance: LOW
    correctness: VERIFIED
    review_notes: >-
      High-confidence mitochondrial proteome; supports mitochondrion localization (HTP).
- id: Reactome:R-HSA-164651
  title: Electron transfer from ubiquinol to cytochrome c of complex III
  findings: []
- id: Reactome:R-HSA-9906017
  title: Unknown peptidase cleaves UQCRFS1 subunit
  findings: []
- id: Reactome:R-HSA-9906042
  title: TTC19 clears UQCRFS1 fragments from Complex III
  findings: []
- id: file:human/UQCRH/UQCRH-uniprot.txt
  title: UniProtKB P07919 (QCR6_HUMAN) Cytochrome b-c1 complex subunit 6, mitochondrial
  findings: []