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Gene

APOA1

apolipoprotein A1

Summary

Cytogenetic location
11q23.3
Coordinates
Chromosome 11: 116,835,751–116,837,622 (GRCh38)
Exons
4 exons across 1.9 kb
Protein
267 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000236850.5NM_000039.3
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 Amyloidosis

    • Autosomal dominant

      Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII).

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Tafamidis (kinetic stabilizer), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisense), liver transplantation

  • Hereditary Hypolipoproteinemias

    • Hypoalphalipoproteinemia

      Includes Tangier disease (ABCA1), LCAT deficiency including fish-eye disease, and apolipoprotein A-I deficiency (APOA1), which cause very low HDL cholesterol and can lead to corneal clouding, kidney disease, nerve problems or early heart disease.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing explains very low HDL results and supports kidney, eye and cardiovascular monitoring.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How APOA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 11, with a bracket where APOA1 sits. APOA1 and 13 genes near it on chromosome 11, from 116,336,687 to 117,336,686.Chromosome 1111q23.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q25116.4 Mb116.6 Mb116.8 Mb117 Mb117.2 MbBUD13: 116,748,170–116,773,039, reverse strandBUD13ZPR1: 116,773,799–116,788,477, reverse strandZPR1APOA5: 116,789,014–116,793,026, reverse strandAPOA5APOA4: 116,820,700–116,823,427, reverse strandAPOA4APOC3: 116,827,019–116,835,254, forward strandAPOC3APOA1: 116,835,751–116,837,622, reverse strandAPOA1SIK3: 116,843,402–117,098,463, reverse strandSIK3PAFAH1B2: 117,144,278–117,176,894, forward strandPAFAH1B2SIDT2: 117,178,730–117,197,452, forward strandSIDT2TAGLN: 117,197,509–117,207,464, forward strandTAGLNPCSK7: 117,202,588–117,232,628, reverse strandPCSK7RNF214: 117,232,154–117,287,429, forward strandRNF214BACE1: 117,285,232–117,316,291, reverse strandBACE1CEP164: 117,314,557–117,413,616, forward strandCEP164Diagram of APOA1: 4 exons on the reverse strand of chromosome 11Exon 4: 4 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 116,835,751–116,836,411, 661 basesExon 3: 116,837,001–116,837,157, 157 basesExon 2: 116,837,345–116,837,407, 63 basesExon 1: 116,837,605–116,837,622, 18 bases43215′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 0.9 kb of the gene's 1.9 kb; 804 of those bases code for the protein.

How a genome test reads APOA1

7

positions in APOA1 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 1.9 kb of APOA1, introns included, not only the 0.9 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.). APOA1 gene: apolipoprotein A1. Retrieved 17 October 2026, from https://dantelabs.com/genes/apoa1

Vancouver

Dante Labs. APOA1 gene: apolipoprotein A1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/apoa1

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