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Gene

AP4E1

adaptor related protein complex 4 subunit epsilon 1

Summary

Cytogenetic location
15q21.2
Coordinates
Chromosome 15: 50,908,683–51,005,895 (GRCh38)
Exons
21 exons across 97.2 kb
Protein
1,137 amino acids
Inheritance
Autosomal recessive
Also known as
AP-4-EPSILON, SPG51
MANE Select transcript
ENST00000261842.10NM_007347.5
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

  • Hereditary Spastic Paraplegia

    • Hereditary Spastic Paraplegia 51Autosomal recessive

      Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.

      • 3 GenCC submitters rate it definitive or strong
    • Hereditary Spastic Paraplegia (All Types)

      One of 66 genes linked to it

      Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

      • 3 GenCC submitters rate 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 AP4E1 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 AP4E1 sits. AP4E1 and 9 genes near it on chromosome 15, from 50,457,289 to 51,457,288.Chromosome 1515q21.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.350.6 Mb50.8 Mb51 Mb51.2 Mb51.4 MbUSP8: 50,423,584–50,514,421, forward strandUSP8USP50: 50,494,018–50,546,708, reverse strandUSP50TRPM7: 50,552,473–50,686,845, reverse strandTRPM7: 50,648,802–50,686,717, reverse strandSPPL2A: 50,702,266–50,765,948, reverse strandSPPL2AAP4E1: 50,908,683–51,005,895, forward strandAP4E1TIPE3: 51,053,489–51,105,276, reverse strandTIPE3CYP19A1: 51,208,057–51,338,606, reverse strandCYP19A1GLDN: 51,341,498–51,408,005, forward strandGLDNDMXL2: 51,447,711–51,622,981, reverse strandDMXL2Diagram of AP4E1: 21 exons on the forward strand of chromosome 15Exon 3: 3 known disease-causing sitesExon 8: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 1: 50,908,683–50,908,928, 246 basesExon 2: 50,912,078–50,912,149, 72 basesExon 3: 50,915,448–50,915,571, 124 basesExon 4: 50,923,931–50,924,004, 74 basesExon 5: 50,925,098–50,925,219, 122 basesExon 6: 50,929,009–50,929,168, 160 basesExon 7: 50,930,805–50,930,971, 167 basesExon 8: 50,934,624–50,934,697, 74 basesExon 9: 50,941,442–50,941,564, 123 basesExon 10: 50,941,666–50,941,775, 110 basesExon 11: 50,948,020–50,948,159, 140 basesExon 12: 50,949,826–50,949,938, 113 basesExon 13: 50,950,051–50,950,169, 119 basesExon 14: 50,958,492–50,958,794, 303 basesExon 15: 50,968,263–50,968,377, 115 basesExon 16: 50,984,022–50,984,145, 124 basesExon 17: 50,993,370–50,993,625, 256 basesExon 18: 50,997,326–50,997,883, 558 basesExon 19: 50,999,072–50,999,262, 191 basesExon 20: 51,001,026–51,001,183, 158 basesExon 21: 51,002,502–51,005,895, 3,394 bases12468101214161820215′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 6.7 kb of the gene's 97.2 kb; 3,414 of those bases code for the protein.

How a genome test reads AP4E1

9

positions in AP4E1 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 97.2 kb of AP4E1, introns included, not only the 6.7 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.). AP4E1 gene: adaptor related protein complex 4 subunit epsilon 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ap4e1

Vancouver

Dante Labs. AP4E1 gene: adaptor related protein complex 4 subunit epsilon 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ap4e1

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