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Gene

AP3D1

adaptor related protein complex 3 subunit delta 1

Summary

Cytogenetic location
19p13.3
Coordinates
Chromosome 19: 2,100,988–2,151,566 (GRCh38)
Exons
32 exons across 50.6 kb
Protein
1,215 amino acids
Inheritance
Autosomal recessive
Also known as
ADTD
MANE Select transcript
ENST00000643116.3NM_001261826.3
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

  • Hermansky-Pudlak Syndrome

    • Autosomal recessive

      Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.

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

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How AP3D1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where AP3D1 sits. AP3D1 and 29 genes near it on chromosome 19, from 1,626,277 to 2,626,276.Chromosome 1919p13.3p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.431.8 Mb2 Mb2.2 Mb2.4 Mb2.6 MbTCF3: 1,609,291–1,652,911, reverse strandTCF3ONECUT3: 1,753,506–1,780,988, forward strandONECUT3ATP8B3: 1,781,761–1,812,295, reverse strandATP8B3REXO1: 1,815,248–1,848,493, reverse strandREXO1KLF16: 1,852,399–1,863,919, reverse strandKLF16ABHD17A: 1,876,810–1,885,618, reverse strandABHD17ASCAMP4: 1,905,214–1,926,013, forward strandSCAMP4ADAT3: 1,905,214–1,913,448, forward strandADAT3CSNK1G2: 1,940,915–1,981,339, forward strandCSNK1G2BTBD2: 1,985,438–2,034,881, reverse strandBTBD2MKNK2: 2,037,465–2,061,220, reverse strandMKNK2MOB3A: 2,071,014–2,096,679, reverse strandMOB3AIZUMO4: 2,096,415–2,099,593, forward strandIZUMO4AP3D1: 2,100,988–2,151,566, reverse strandAP3D1DOT1L: 2,163,933–2,232,578, forward strandDOT1LPLEKHJ1: 2,229,981–2,237,704, reverse strandPLEKHJ1SF3A2: 2,236,813–2,248,677, forward strandSF3A2AMH: 2,249,309–2,252,073, forward strandAMHJSRP1: 2,252,074–2,269,759, reverse strandOAZ1: 2,269,509–2,273,492, forward strand: 2,269,525–2,341,172, forward strandPEAK3: 2,274,626–2,282,209, reverse strandLINGO3: 2,287,164–2,308,177, reverse strandLSM7: 2,321,507–2,328,630, reverse strandLSM7SPPL2B: 2,328,346–2,355,100, forward strandSPPL2BTMPRSS9: 2,360,238–2,426,261, forward strandTMPRSS9TIMM13: 2,425,624–2,427,593, reverse strandTIMM13LMNB2: 2,427,638–2,456,992, reverse strandLMNB2GADD45B: 2,476,122–2,478,805, forward strandGADD45BGNG7: 2,511,214–2,702,727, reverse strandGNG7Diagram of AP3D1: 32 exons on the reverse strand of chromosome 19Exon 19: 1 known disease-causing siteExon 32: 2,100,988–2,102,268, 1,281 basesExon 31: 2,108,687–2,108,766, 80 basesExon 30: 2,109,086–2,109,207, 122 basesExon 29: 2,109,873–2,109,958, 86 basesExon 28: 2,110,136–2,110,224, 89 basesExon 27: 2,110,707–2,110,896, 190 basesExon 26: 2,111,285–2,111,332, 48 basesExon 25: 2,111,679–2,111,828, 150 basesExon 24: 2,112,860–2,112,967, 108 basesExon 23: 2,113,336–2,113,413, 78 basesExon 22: 2,114,125–2,114,302, 178 basesExon 21: 2,114,748–2,114,821, 74 basesExon 20: 2,115,219–2,115,418, 200 basesExon 19: 2,115,538–2,115,613, 76 basesExon 18: 2,116,207–2,116,278, 72 basesExon 17: 2,116,605–2,116,746, 142 basesExon 16: 2,117,222–2,117,367, 146 basesExon 15: 2,118,601–2,118,832, 232 basesExon 14: 2,120,862–2,121,092, 231 basesExon 13: 2,121,163–2,121,311, 149 basesExon 12: 2,121,734–2,121,879, 146 basesExon 11: 2,123,358–2,123,406, 49 basesExon 10: 2,123,830–2,123,879, 50 basesExon 9: 2,127,152–2,127,201, 50 basesExon 8: 2,129,090–2,129,163, 74 basesExon 7: 2,129,318–2,129,457, 140 basesExon 6: 2,130,408–2,130,537, 130 basesExon 5: 2,132,471–2,132,578, 108 basesExon 4: 2,137,011–2,137,091, 81 basesExon 3: 2,137,727–2,137,807, 81 basesExon 2: 2,138,619–2,138,714, 96 basesExon 1: 2,151,239–2,151,566, 328 bases323025201510515′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 5.1 kb of the gene's 50.6 kb; 3,648 of those bases code for the protein.

How a genome test reads AP3D1

1

position in AP3D1 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 50.6 kb of AP3D1, introns included, not only the 5.1 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.). AP3D1 gene: adaptor related protein complex 3 subunit delta 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ap3d1

Vancouver

Dante Labs. AP3D1 gene: adaptor related protein complex 3 subunit delta 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ap3d1

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