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Gene

NDUFS1

NADH:ubiquinone oxidoreductase core subunit S1

Summary

Cytogenetic location
2q33.3
Coordinates
Chromosome 2: 206,114,817–206,159,444 (GRCh38)
Exons
19 exons across 44.6 kb
Protein
727 amino acids
Also known as
CI-75k
MANE Select transcript
ENST00000233190.11NM_005006.7
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

    • Leigh Syndrome

      • One of 69 genes linked to it

        A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

        • ClinGen rates the link definitive
        • 1 GenCC submitter rates it definitive or strong

    • 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.

        • 3 GenCC submitters rate it definitive or strong
        Actionability

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

    How NDUFS1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 2, with a bracket where NDUFS1 sits. NDUFS1 and 6 genes near it on chromosome 2, from 205,637,131 to 206,637,130.Chromosome 22q33.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3205.8 Mb206 Mb206.2 Mb206.4 Mb206.6 MbNRP2: 205,681,990–205,798,133, forward strandNRP2INO80D: 205,993,721–206,086,308, reverse strandINO80DNDUFS1: 206,114,817–206,159,444, reverse strandNDUFS1EEF1B2: 206,159,575–206,164,806, forward strandEEF1B2CMKLR2: 206,175,316–206,218,073, reverse strandCMKLR2ZDBF2: 206,274,653–206,393,968, forward strandZDBF2ADAM23: 206,443,369–206,621,301, forward strandADAM23Diagram of NDUFS1: 19 exons on the reverse strand of chromosome 2Exon 19: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 16: 3 known disease-causing sitesExon 15: 1 known disease-causing siteExon 13: 3 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 19: 206,114,817–206,124,276, 9,460 basesExon 18: 206,126,539–206,126,611, 73 basesExon 17: 206,126,710–206,126,844, 135 basesExon 16: 206,127,797–206,127,972, 176 basesExon 15: 206,130,088–206,130,242, 155 basesExon 14: 206,132,945–206,133,105, 161 basesExon 13: 206,138,485–206,138,614, 130 basesExon 12: 206,141,941–206,142,069, 129 basesExon 11: 206,142,686–206,142,831, 146 basesExon 10: 206,144,018–206,144,132, 115 basesExon 9: 206,144,892–206,145,026, 135 basesExon 8: 206,146,903–206,147,088, 186 basesExon 7: 206,147,531–206,147,661, 131 basesExon 6: 206,147,753–206,147,834, 82 basesExon 5: 206,149,020–206,149,096, 77 basesExon 4: 206,149,818–206,149,925, 108 basesExon 3: 206,152,419–206,152,510, 92 basesExon 2: 206,153,618–206,153,682, 65 basesExon 1: 206,159,341–206,159,444, 104 bases191816141210864215′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 11.7 kb of the gene's 44.6 kb; 2,184 of those bases code for the protein.

    Sequencing NDUFS1

    29

    positions in NDUFS1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 44.6 kb of NDUFS1, introns included, not only the 11.7 kb of exons.

    Genes linked to the same conditions

    Traits linked to NDUFS1

    The Human Phenotype Ontology lists these as features of the rare conditions NDUFS1 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.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • 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.). NDUFS1 gene: NADH:ubiquinone oxidoreductase core subunit S1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ndufs1

    Vancouver

    Dante Labs. NDUFS1 gene: NADH:ubiquinone oxidoreductase core subunit S1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ndufs1

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