C·GT·AC·GG·CG·CC·GT·AA·TA·TA·T
Xysera Locus
SourcesHuman / GRCh38
Gene/Homo sapiens

APOE

apolipoprotein E

19q13.32chr19:44,903,787–44,909,396+ strandGRCh38
Record assembledAll sources resolved
Type
Protein Coding
Chromosome
chr19
NCBI Gene ID
348
Ensembl Gene ID
ENSG00000130203
Aliases
AD2 · APO-E · ApoE4 · LDLCQ5 · LPG
Chromosome locatorchr19
APOE
pter · 0 Mb19q13.3259 Mb · qter
01/

Gene structure

Source / Ensembl · GRCh38
4exons
5,610genomic bp
Viewing transcriptAPOE-201
Transcript context39 isoforms
Displayed isoform
protein coding954 bp CDS
5′3′Exon 1: 44,905,796–44,905,841 (46 bp)EXON 144,905,796–44,905,841 · 46 bpExon 2: 44,906,602–44,906,667 (66 bp)EXON 244,906,602–44,906,667 · 66 bpExon 3: 44,907,760–44,907,952 (193 bp)EXON 344,907,760–44,907,952 · 193 bpExon 4: 44,908,533–44,909,393 (861 bp)EXON 444,908,533–44,909,393 · 861 bp44,905,79644,906,69544,907,59544,908,49444,909,393
Select an exon

Click an exon block to inspect its genomic coordinates and length.

CDS UTR / non-coding exon Intron · Proportional genomic coordinates

02/

Function

Source / NCBI Gene

The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]

03/

Protein

Source / UniProtKB · Reviewed

Recommended name

Apolipoprotein E

Accession
P02649
Length
317 aa
Status
Reviewed
Functional annotations16 curated statements
  1. 01

    APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids.

  2. 02

    APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance.

  3. 03

    Apolipoproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma.

  4. 04

    As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL) but shows a preferential binding to high-density lipoproteins (HDL).

  5. 05

    It also binds a wide range of cellular receptors including the LDL receptor/LDLR, the LDL receptor-related proteins LRP1, LRP2 and LRP8 and the very low-density lipoprotein receptor/VLDLR that mediate the cellular uptake of the APOE-containing lipoprotein particles.

SourcesUniProtKB / P02649 ↗
Referenced literature

PMID 14754908 ↗PMID 1911868 ↗PMID 6860692 ↗PMID 1917954 ↗PMID 23620513 ↗PMID 2762297 ↗PMID 9395455 ↗PMID 12950167 ↗PMID 1530612 ↗PMID 20030366 ↗PMID 20303980 ↗PMID 2063194 ↗PMID 7635945 ↗PMID 7768901 ↗PMID 8756331 ↗PMID 8939961 ↗PMID 23676495 ↗PMID 9488694 ↗PMID 29516132 ↗PMID 25173806 ↗PMID 30333625 ↗PMID 28111074 ↗

04/

Expression

Source / Human Protein Atlas
Top 10 consensus tissues
RNA expression · nTPM

Hover a bar for its exact value. Linear scale preserves proportional differences. · HPA consensus tissue dataset.

05/

Associated conditions

Source / Ensembl Phenotypes
  1. 01
    Alzheimer disease 3Recorded association · MIM morbid
  2. 02
    LIPOPROTEIN GLOMERULOPATHYRecorded association · GenCC
  3. 03
    SEA-BLUE HISTIOCYTE DISEASERecorded association · MIM morbid
  4. 04
    DysbetalipoproteinemiaRecorded association · Orphanet
  5. 05
    Alzheimer disease 2Recorded association · MIM morbid
  6. 06
    HYPERLIPOPROTEINEMIA, TYPE IIIRecorded association · MIM morbid
  7. 07
    Sea-blue histiocyte syndromeRecorded association · GenCC
  8. 08
    ALZHEIMER DISEASE 4Recorded association · MIM morbid

Associations are reproduced from the named sources and do not independently establish causality. Not for clinical interpretation.

06/

Literature

Source / PubMed
  1. 2021
    APOE and Alzheimer's disease: advances in genetics, pathophysiology, and therapeutic approaches.

    Serrano-Pozo A, Das S, Hyman BT

    The Lancet. Neurology · PMID 33340485

    ↗
  2. 2024
    Single-cell atlas of human infrapatellar fat pad and synovium implicates APOE signaling in osteoarthritis pathology.

    Tang S, Yao L, Ruan J, Kang J, Cao Y, et al.

    Science translational medicine · PMID 38266107

    ↗
  3. 2020
    APOE in the normal brain.

    Flowers SA, Rebeck GW

    Neurobiology of disease · PMID 31911114

    ↗
  4. 2020
    APOE and TREM2 regulate amyloid-responsive microglia in Alzheimer's disease.

    Nguyen AT, Wang K, Hu G, Wang X, Miao Z, et al.

    Acta neuropathologica · PMID 32840654

    ↗
  5. 2019
    ApoE attenuates unresolvable inflammation by complex formation with activated C1q.

    Yin C, Ackermann S, Ma Z, Mohanta SK, Zhang C, et al.

    Nature medicine · PMID 30692699

    ↗
07/

Sources & identifiers

Identity · function · literatureNCBIGene 348Coordinates · transcript · phenotypeEnsemblENSG00000130203Protein annotationUniProtKBP02649Research literaturePubMed5 selected records
Xysera Locus

Research and educational information only. Not medical advice.

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