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Gene

ATP5F1D

ATP synthase F1 subunit delta

Summary

Cytogenetic location
19p13.3
Coordinates
Chromosome 19: 1,241,751–1,244,825 (GRCh38)
Exons
4 exons across 3.1 kb
Protein
168 amino acids
Previous symbols
ATP5D
MANE Select transcript
ENST00000215375.7NM_001687.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Primary Mitochondrial Disease

    • Combined Oxidative Phosphorylation Deficiency

      Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.

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

      Knowing can end a diagnostic search and guide surveillance and supportive care.

    • 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 ATP5F1D is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 19, with a bracket where ATP5F1D sits. ATP5F1D and 44 genes near it on chromosome 19, from 743,288 to 1,743,287.Chromosome 1919p13.3p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.430.8 Mb1 Mb1.2 Mb1.4 Mb1.6 MbPALM: 708,906–748,329, forward strandPALMMISP: 748,404–764,363, forward strandMISPPTBP1: 797,075–812,327, forward strandPLPPR3: 810,908–822,619, reverse strandAZU1: 825,097–832,018, forward strandAZU1PRTN3: 840,999–848,255, forward strandPRTN3ELANE: 850,951–856,247, forward strandELANECFD: 859,426–869,492, forward strandCFDMED16: 867,630–893,222, reverse strandMED16R3HDM4: 896,503–913,245, reverse strandR3HDM4KISS1R: 917,287–921,005, forward strandKISS1RARID3A: 924,528–975,939, forward strandARID3AWDR18: 984,248–998,438, forward strandWDR18GRIN3B: 1,000,419–1,009,732, forward strandGRIN3BTMEM259: 1,009,615–1,021,270, reverse strandTMEM259CNN2: 1,026,270–1,039,077, forward strandCNN2ABCA7: 1,039,997–1,065,572, forward strandABCA7ARHGAP45: 1,065,923–1,087,829, forward strandARHGAP45POLR2E: 1,085,104–1,095,486, reverse strandPOLR2EGPX4: 1,103,982–1,106,791, forward strandGPX4SBNO2: 1,107,634–1,174,295, reverse strandSBNO2STK11: 1,177,558–1,228,431, forward strandSTK11CBARP: 1,228,282–1,239,465, reverse strandCBARPATP5F1D: 1,241,751–1,244,825, forward strandATP5F1DMIDN: 1,248,316–1,259,145, forward strandMIDNCIRBP: 1,259,384–1,274,880, forward strandCIRBPFAM174C: 1,275,509–1,279,244, forward strandFAM174C: 1,276,021–1,279,244, forward strandEFNA2: 1,285,873–1,301,431, forward strandPWWP3A: 1,354,293–1,378,434, forward strandPWWP3ANDUFS7: 1,383,527–1,395,590, forward strandNDUFS7GAMT: 1,397,026–1,401,731, reverse strandGAMTDAZAP1: 1,407,533–1,435,687, forward strandDAZAP1RPS15: 1,438,149–1,440,508, forward strandRPS15APC2: 1,446,302–1,473,244, forward strandAPC2C19orf25: 1,461,143–1,479,565, reverse strandC19orf25PCSK4: 1,481,428–1,490,752, reverse strandPCSK4REEP6: 1,491,016–1,497,928, forward strandREEP6ADAMTSL5: 1,503,045–1,513,604, reverse strandPLK5: 1,507,978–1,536,046, forward strandMEX3D: 1,554,672–1,568,352, reverse strandMEX3DMBD3: 1,573,596–1,592,911, reverse strandMBD3: 1,578,339–1,605,445, reverse strandUQCR11: 1,593,987–1,605,500, reverse strandUQCR11TCF3: 1,609,291–1,652,911, reverse strandTCF3Diagram of ATP5F1D: 4 exons on the forward strand of chromosome 19Exon 1: 1,241,751–1,241,991, 241 basesExon 2: 1,242,456–1,242,609, 154 basesExon 3: 1,244,097–1,244,185, 89 basesExon 4: 1,244,315–1,244,825, 511 bases12345′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 1 kb of the gene's 3.1 kb; 507 of those bases code for the protein.

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.). ATP5F1D gene: ATP synthase F1 subunit delta. Retrieved 16 October 2026, from https://dantelabs.com/genes/atp5f1d

Vancouver

Dante Labs. ATP5F1D gene: ATP synthase F1 subunit delta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/atp5f1d

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