UQCRFS1

Protein identityUniProt · HPA

UniProt accession

P47985

Gene

UQCRFS1

Ensembl

ENSG00000169021

Chromosome

19

Canonical length

274 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of respiratory chain complex III. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

274 residues, UniProt reviewed canonical sequence.

>P47985|UQCRFS1
     1  MLSVASRSGP FAPVLSATSR GVAGALRPLV QATVPATPEQ PVLDLKRPFL SRESLSGQAV
    61  RRPLVASVGL NVPASVCYSH TDIKVPDFSE YRRLEVLDST KSSRESSEAR KGFSYLVTGV
   121  TTVGVAYAAK NAVTQFVSSM SASADVLALA KIEIKLSDIP EGKNMAFKWR GKPLFVRHRT
   181  QKEIEQEAAV ELSQLRDPQH DLDRVKKPEW VILIGVCTHL GCVPIANAGD FGGYYCPCHG
   241  SHYDASGRIR LGPAPLNLEV PTYEFTSDDM VIVG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UQCRFS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

267 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UQCRFS1.

Disease | AllUniProt

Conditions UQCRFS1 is implicated in, by any mechanism.

• Mitochondrial complex III deficiency, nuclear type 10 (MC3DN10) MIM:618775

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 40 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex III deficiency, nuclear type 10
• Cardiomyopathy
• Propionic acidemia
• Lactic acidosis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.95

gnomAD pLI

0.19

gnomAD missense Z

1.83

DepMap mean gene effect

-0.51

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial electron transport, ubiquinol to cytochrome c
• mitochondrial respiratory chain complex III assembly
• respiratory electron transport chain

Molecular functions

• 2 iron, 2 sulfur cluster binding
• metal ion binding
• oxidoreductase activity
• quinol-cytochrome-c reductase activity

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion
• respiratory chain complex III

Protein domainsUniProt · Pfam · InterPro

• Cytochrome b-c1 complex subunit Rieske, transmembrane domain
• Rieske iron-sulphur protein, C-terminal
• Ubiquinol-cytochrome c reductase, iron-sulphur subunit
• Globular protein, non-globular alpha/beta subunit
• Rieske iron-sulphur protein
• Ubiquinol-cytochrome c reductase iron-sulphur subunit, N-terminal
• Rieske [2Fe-2S] iron-sulphur domain
• Rieske [2Fe-2S] iron-sulphur domain superfamily
• Cytochrome bc1 complex subunit Rieske, transmembrane domain superfamily
• Rieske [2Fe-2S] domain
• Ubiquinol cytochrome reductase transmembrane region
• Ubiquinol-cytochrome c reductase 8 kDa, N-terminal

KeywordsUniProt

• 2Fe-2S
• Disulfide bond
• Electron transport
• Iron
• Iron-sulfur
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Respiratory chain
• Transit peptide
• Translocase
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of UQCRFS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TTC19
• LYRM7
• CLPP