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Gene

PLIN1

perilipin 1

Summary

Cytogenetic location
15q26.1
Coordinates
Chromosome 15: 89,664,367–89,679,367 (GRCh38)
Exons
9 exons across 15 kb
Protein
522 amino acids
Previous symbols
PLIN
MANE Select transcript
ENST00000300055.10NM_002666.5
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

  • Lipodystrophy

    • Familial Partial Lipodystrophy

      Includes the LMNA (Dunnigan), PPARG, PLIN1, LIPE, AKT2, CAV1 and PLAAT3 forms, which cause loss of fat from the limbs and buttocks with insulin resistance, diabetes, high triglycerides and fatty liver.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows early screening and treatment of diabetes, triglycerides and liver disease, and in selected cases metreleptin.

How PLIN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where PLIN1 sits. PLIN1 and 19 genes near it on chromosome 15, from 89,171,867 to 90,171,866.Chromosome 1515q26.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.389.2 Mb89.4 Mb89.6 Mb89.8 Mb90 MbABHD2: 89,087,459–89,202,355, forward strandABHD2RLBP1: 89,209,869–89,222,577, reverse strandRLBP1FANCI: 89,243,854–89,318,091, forward strandFANCIPOLG: 89,305,198–89,334,972, reverse strandPOLGPOLGARF: 89,330,208–89,333,809, reverse strandPOLGARFRHCG: 89,451,995–89,496,815, reverse strandRHCGTICRR: 89,575,455–89,631,056, forward strandTICRRKIF7: 89,608,789–89,663,098, reverse strandKIF7PLIN1: 89,664,367–89,679,367, reverse strandPLIN1PEX11A: 89,677,764–89,690,786, reverse strandPEX11AWDR93: 89,690,810–89,743,639, forward strandWDR93MESP1: 89,749,875–89,751,301, reverse strandMESP1MESP2: 89,760,591–89,778,754, forward strandMESP2ANPEP: 89,784,875–89,815,401, reverse strandANPEPAP3S2: 89,830,599–89,894,638, reverse strandAP3S2ARPIN-AP3S2: 89,834,308–89,912,882, reverse strandARPIN-AP3S2ARPIN: 89,895,006–89,912,966, reverse strandARPINZNF710: 89,999,180–90,082,206, forward strandZNF710IDH2: 90,083,045–90,102,511, reverse strandIDH2SEMA4B: 90,160,604–90,229,679, forward strandSEMA4BDiagram of PLIN1: 9 exons on the reverse strand of chromosome 15Exon 9: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 9: 89,664,367–89,665,942, 1,576 basesExon 8: 89,666,936–89,667,181, 246 basesExon 7: 89,667,602–89,667,793, 192 basesExon 6: 89,669,500–89,669,672, 173 basesExon 5: 89,669,980–89,670,244, 265 basesExon 4: 89,671,482–89,671,564, 83 basesExon 3: 89,673,210–89,673,414, 205 basesExon 2: 89,677,445–89,677,503, 59 basesExon 1: 89,679,251–89,679,367, 117 bases9876543215′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 2.9 kb of the gene's 15 kb; 1,569 of those bases code for the protein.

How a genome test reads PLIN1

3

positions in PLIN1 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 15 kb of PLIN1, introns included, not only the 2.9 kb of exons.

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.). PLIN1 gene: perilipin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/plin1

Vancouver

Dante Labs. PLIN1 gene: perilipin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/plin1

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