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Gene

UQCRFS1

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

Summary

Cytogenetic location
19q12
Coordinates
Chromosome 19: 29,205,320–29,213,151 (GRCh38)
Exons
2 exons across 7.8 kb
Protein
274 amino acids
Also known as
ISP, RIS1, RIP1, UQCR5, RISP
MANE Select transcript
ENST00000304863.6NM_006003.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Primary Mitochondrial Disease

      • Mitochondrial Respiratory Chain Complex Deficiency

        One of 61 genes linked to it

        Isolated deficiencies of complex I, II, III, IV or V, caused by variants in nuclear or mitochondrial genes, which can affect the brain, muscles, heart, liver and other energy-demanding organs.

        • 2 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing can end a diagnostic search and guide surveillance of affected organs and avoidance of drugs toxic to mitochondria.

    How UQCRFS1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome 19, with a bracket where UQCRFS1 sits. UQCRFS1 and 4 genes near it on chromosome 19, from 28,709,236 to 29,709,235.Chromosome 1919q12p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4328.8 Mb29 Mb29.2 Mb29.4 Mb29.6 MbUQCRFS1: 29,205,320–29,213,151, reverse strandUQCRFS1VSTM2B: 29,524,739–29,564,553, forward strandVSTM2BPOP4: 29,606,283–29,617,237, forward strandPOP4PLEKHF1: 29,665,398–29,675,497, forward strandPLEKHF1C19orf12: 29,691,270–29,716,060, reverse strandC19orf12Diagram of UQCRFS1: 2 exons on the reverse strand of chromosome 19Exon 2: 29,205,320–29,208,158, 2,839 basesExon 1: 29,212,905–29,213,151, 247 bases215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 3.1 kb of the gene's 7.8 kb; 825 of those bases code for the protein.

    Genes linked to the same conditions

    Traits linked to UQCRFS1

    The Human Phenotype Ontology lists these as features of the rare conditions UQCRFS1 can cause. Each trait's page lists the other genes linked to it.

    External links

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). UQCRFS1 gene: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/uqcrfs1

    Vancouver

    Dante Labs. UQCRFS1 gene: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/uqcrfs1

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