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Gene

AP5Z1

adaptor related protein complex 5 subunit zeta 1

Summary

Cytogenetic location
7p22.1
Coordinates
Chromosome 7: 4,775,623–4,794,397 (GRCh38)
Exons
17 exons across 18.8 kb
Protein
807 amino acids
Also known as
SPG48, zeta
Previous symbols
KIAA0415
MANE Select transcript
ENST00000649063.2NM_014855.3
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 reports relevant to this gene

    • Hereditary Spastic Paraplegia

      • 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.

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

    • Lysosomal Storage Disease

      • Lysosomal storage disease (other and unspecified types)

        One of 59 genes linked to it

        Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

        • 2 GenCC submitters rate it definitive or strong

    How AP5Z1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 7, with a bracket where AP5Z1 sits. AP5Z1 and 9 genes near it on chromosome 7, from 4,285,010 to 5,285,009.Chromosome 77p22.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.34.4 Mb4.6 Mb4.8 Mb5 Mb5.2 MbFOXK1: 4,682,240–4,771,442, forward strandFOXK1AP5Z1: 4,775,623–4,794,397, forward strandAP5Z1RADIL: 4,797,055–4,883,716, reverse strandRADILPAPOLB: 4,857,738–4,862,030, reverse strandPAPOLBMMD2: 4,892,248–4,959,230, reverse strandMMD2RBAK-RBAKDN: 4,983,718–5,073,221, forward strandRBAK-RBAKDNRBAK: 5,045,821–5,069,491, forward strandRBAKRBAKDN: 5,072,125–5,073,223, forward strandRBAKDNWIPI2: 5,190,182–5,233,855, forward strandWIPI2SLC29A4: 5,274,369–5,307,194, forward strandSLC29A4Diagram of AP5Z1: 17 exons on the forward strand of chromosome 7Exon 2: 4 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 4 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 4 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 17: 1 known disease-causing siteExon 1: 4,775,623–4,775,756, 134 basesExon 2: 4,781,175–4,781,312, 138 basesExon 3: 4,781,568–4,781,754, 187 basesExon 4: 4,783,316–4,783,460, 145 basesExon 5: 4,783,689–4,783,798, 110 basesExon 6: 4,784,203–4,784,371, 169 basesExon 7: 4,784,908–4,785,048, 141 basesExon 8: 4,785,415–4,785,452, 38 basesExon 9: 4,785,522–4,785,684, 163 basesExon 10: 4,786,250–4,786,428, 179 basesExon 11: 4,787,634–4,787,776, 143 basesExon 12: 4,788,154–4,788,294, 141 basesExon 13: 4,788,840–4,788,951, 112 basesExon 14: 4,789,832–4,789,929, 98 basesExon 15: 4,790,459–4,790,591, 133 basesExon 16: 4,790,673–4,790,887, 215 basesExon 17: 4,791,115–4,794,397, 3,283 bases1246810121416175′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 5.5 kb of the gene's 18.8 kb; 2,424 of those bases code for the protein.

    How a genome test reads AP5Z1

    58

    positions in AP5Z1 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 18.8 kb of AP5Z1, introns included, not only the 5.5 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.). AP5Z1 gene: adaptor related protein complex 5 subunit zeta 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ap5z1

    Vancouver

    Dante Labs. AP5Z1 gene: adaptor related protein complex 5 subunit zeta 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ap5z1

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