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Gene

PINK1

PTEN induced kinase 1

Summary

Cytogenetic location
1p36.12
Coordinates
Chromosome 1: 20,633,458–20,651,511 (GRCh38)
Exons
8 exons across 18.1 kb
Protein
581 amino acids
Also known as
BRPK
Previous symbols
PARK6
MANE Select transcript
ENST00000321556.5NM_032409.3
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

  • Parkinson Disease

    • A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.

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

      LRRK2 kinase inhibitor trials, substrate reduction therapy for GBA variants, α-synuclein-targeted approaches, dopaminergic medications, levodopa

How PINK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where PINK1 sits. PINK1 and 13 genes near it on chromosome 1, from 20,142,485 to 21,142,484.Chromosome 11p36.12p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4420.2 Mb20.4 Mb20.6 Mb20.8 Mb21 MbPLA2G2F: 20,139,322–20,150,381, forward strandPLA2G2FPLA2G2C: 20,161,253–20,186,524, reverse strandPLA2G2CUBXN10: 20,183,293–20,196,050, forward strandUBXN10VWA5B1: 20,290,875–20,359,534, forward strandVWA5B1CAMK2N1: 20,482,391–20,486,270, reverse strandCAMK2N1MUL1: 20,495,722–20,508,163, reverse strandMUL1FAM43B: 20,552,573–20,555,020, forward strandFAM43BCDA: 20,588,898–20,618,913, forward strandCDAPINK1: 20,633,458–20,651,511, forward strandPINK1DDOST: 20,647,467–20,661,544, reverse strandDDOSTKIF17: 20,664,011–20,718,018, reverse strandKIF17SH2D5: 20,719,724–20,732,837, reverse strandSH2D5HP1BP3: 20,738,101–20,787,339, reverse strandHP1BP3EIF4G3: 20,805,989–21,177,285, reverse strandEIF4G3Diagram of PINK1: 8 exons on the forward strand of chromosome 1Exon 1: 8 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 3 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 1: 20,633,458–20,633,935, 478 basesExon 2: 20,637,842–20,638,129, 288 basesExon 3: 20,639,892–20,639,992, 101 basesExon 4: 20,644,490–20,644,672, 183 basesExon 5: 20,645,560–20,645,723, 164 basesExon 6: 20,648,505–20,648,632, 128 basesExon 7: 20,648,995–20,649,231, 237 basesExon 8: 20,650,434–20,651,511, 1,078 bases123456785′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 2.7 kb of the gene's 18.1 kb; 1,746 of those bases code for the protein.

How a genome test reads PINK1

39

positions in PINK1 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 18.1 kb of PINK1, introns included, not only the 2.7 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.). PINK1 gene: PTEN induced kinase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/pink1

Vancouver

Dante Labs. PINK1 gene: PTEN induced kinase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pink1

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