This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alt... See more...

Aliases for APOO Gene

Aliases for APOO Gene

  • Apolipoprotein O 2 3 4 5
  • Mitochondrial Contact Site And Cristae Organizing System Subunit 26 2 3
  • Family With Sequence Similarity 121B 2 3
  • MICOS Complex Subunit MIC26 3 4
  • MICOS Complex Subunit MIC23 3 4
  • FAM121B 3 4
  • MIC26 3 4
  • Protein FAM121B 4
  • Brain My025 3
  • MICOS26 3
  • Mic23 3
  • My025 3
  • MIC23 4

External Ids for APOO Gene

Previous HGNC Symbols for APOO Gene

  • FAM121B

Previous GeneCards Identifiers for APOO Gene

  • GC0XM023763
  • GC0XM023851
  • GC0XM021597

Summaries for APOO Gene

Entrez Gene Summary for APOO Gene

  • This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009]

GeneCards Summary for APOO Gene

APOO (Apolipoprotein O) is a Protein Coding gene. Diseases associated with APOO include 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome and Sengers Syndrome. An important paralog of this gene is APOOL.

UniProtKB/Swiss-Prot Summary for APOO Gene

  • Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:25764979). Can promote cardiac lipotoxicity by enhancing mitochondrial respiration and fatty acid metabolism in cardiac myoblasts (PubMed:24743151). Promotes cholesterol efflux from macrophage cells. Detected in HDL, LDL and VLDL. Secreted by a microsomal triglyceride transfer protein (MTTP)-dependent mechanism, probably as a VLDL-associated protein that is subsequently transferred to HDL (PubMed:16956892).

Gene Wiki entry for APOO Gene

Additional gene information for APOO Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOO Gene

Genomics for APOO Gene

GeneHancer (GH) Regulatory Elements for APOO Gene

Promoters and enhancers for APOO Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOO on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOO

Top Transcription factor binding sites by QIAGEN in the APOO gene promoter:
  • Egr-2
  • Egr-3
  • FOXJ2
  • FOXJ2 (long isoform)
  • HEN1
  • IRF-1
  • IRF-2
  • Sp1
  • SRF
  • SRF (504 AA)

Genomic Locations for APOO Gene

Genomic Locations for APOO Gene
chrX:23,833,348-23,907,940
(GRCh38/hg38)
Size:
74,593 bases
Orientation:
Minus strand
chrX:23,851,465-23,926,057
(GRCh37/hg19)
Size:
74,593 bases
Orientation:
Minus strand

Genomic View for APOO Gene

Genes around APOO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOO Gene

Proteins for APOO Gene

  • Protein details for APOO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUR5-MIC26_HUMAN
    Recommended name:
    MICOS complex subunit MIC26
    Protein Accession:
    Q9BUR5
    Secondary Accessions:
    • B2R4K9
    • Q9H3J9

    Protein attributes for APOO Gene

    Size:
    198 amino acids
    Molecular mass:
    22285 Da
    Quaternary structure:
    • Component of the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and MICOS13/MIC13. This complex was also known under the names MINOS or MitOS complex. he MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:25764979, PubMed:25781180, PubMed:25997101). The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex. Interacts with IMMT/MIC60 (PubMed:25764979, PubMed:25781180). Interacts with MICOS10/MIC10 and APOOL/MIC27 (PubMed:25764979).

    Alternative splice isoforms for APOO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APOO Gene

Post-translational modifications for APOO Gene

  • O-glycosylation; glycosaminoglycan of chondroitin-sulfate type.
  • Glycosylation at Ser162
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for APOO Gene

Domains & Families for APOO Gene

Gene Families for APOO Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for APOO Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOO Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM121B (APOO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BUR5

UniProtKB/Swiss-Prot:

MIC26_HUMAN :
  • Belongs to the apolipoprotein O/MICOS complex subunit Mic27 family.
Family:
  • Belongs to the apolipoprotein O/MICOS complex subunit Mic27 family.
genes like me logo Genes that share domains with APOO: view

Function for APOO Gene

Molecular function for APOO Gene

UniProtKB/Swiss-Prot Function:
Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:25764979). Can promote cardiac lipotoxicity by enhancing mitochondrial respiration and fatty acid metabolism in cardiac myoblasts (PubMed:24743151). Promotes cholesterol efflux from macrophage cells. Detected in HDL, LDL and VLDL. Secreted by a microsomal triglyceride transfer protein (MTTP)-dependent mechanism, probably as a VLDL-associated protein that is subsequently transferred to HDL (PubMed:16956892).

Gene Ontology (GO) - Molecular Function for APOO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25764979
genes like me logo Genes that share ontologies with APOO: view
genes like me logo Genes that share phenotypes with APOO: view

Animal Models for APOO Gene

MGI Knock Outs for APOO:
  • Apoo Apoo<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for APOO Gene

miRTarBase miRNAs that target APOO

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOO

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APOO Gene

Localization for APOO Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOO Gene

Mitochondrion inner membrane; Single-pass membrane protein. Secreted. Mitochondrion. Golgi apparatus membrane. Endoplasmic reticulum membrane. Note=Exists in three distinct forms: a glycosylated and secreted form, an ER/Golgi-resident form and a non-glycosylated mitochondrial form. {ECO:0000269 PubMed:25764979}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOO gene
Compartment Confidence
extracellular 5
mitochondrion 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
plasma membrane 1
cytoskeleton 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APOO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 25764979
GO:0005576 extracellular region IDA,IEA 25764979
GO:0005615 extracellular space ISS 22261194
GO:0005739 mitochondrion IEA,IDA 24743151
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with APOO: view

Pathways & Interactions for APOO Gene

PathCards logo

SuperPathways for APOO Gene

No Data Available

Gene Ontology (GO) - Biological Process for APOO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0042407 cristae formation IEA,IMP 25764979
genes like me logo Genes that share ontologies with APOO: view

No data available for Pathways by source and SIGNOR curated interactions for APOO Gene

Drugs & Compounds for APOO Gene

No Compound Related Data Available

Transcripts for APOO Gene

mRNA/cDNA for APOO Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOO

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for APOO Gene

No ASD Table

Relevant External Links for APOO Gene

GeneLoc Exon Structure for
APOO

Expression for APOO Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APOO Gene

This gene is overexpressed in Brain (10.2) and Heart (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APOO Gene



Protein tissue co-expression partners for APOO Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOO

SOURCE GeneReport for Unigene cluster for APOO Gene:

Hs.495851

mRNA Expression by UniProt/SwissProt for APOO Gene:

Q9BUR5-MIC26_HUMAN
Tissue specificity: Expressed in all tissues examined. Up-regulated in diabetic heart.

Evidence on tissue expression from TISSUES for APOO Gene

  • Nervous system(4.3)
  • Lung(4.2)
  • Skin(4.2)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with APOO: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for APOO Gene

Orthologs for APOO Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APOO 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APOO 31 30
  • 91.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APOO 31 30
  • 89.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Apoo 17 31 30
  • 86.53 (n)
Apoo-ps 31
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Apoo 30
  • 85.19 (n)
oppossum
(Monodelphis domestica)
Mammalia APOO 31
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOO 31
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves APOO 31 30
  • 67.2 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apoo 30
  • 59.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2586 30
zebrafish
(Danio rerio)
Actinopterygii apooa 31 30
  • 52.91 (n)
OneToMany
apoob 31
  • 30 (a)
OneToMany
Species where no ortholog for APOO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APOO Gene

ENSEMBL:
Gene Tree for APOO (if available)
TreeFam:
Gene Tree for APOO (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOO: view image

Paralogs for APOO Gene

Paralogs for APOO Gene

(2) SIMAP similar genes for APOO Gene using alignment to 4 proteins:

  • APOO_HUMAN
  • C9J574_HUMAN
  • G3V1B6_HUMAN
  • H7C1U8_HUMAN
genes like me logo Genes that share paralogs with APOO: view

Variants for APOO Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOO Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
780687 Benign: not provided 23,856,367(-) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for APOO Gene

Structural Variations from Database of Genomic Variants (DGV) for APOO Gene

Variant ID Type Subtype PubMed ID
dgv2237e212 CNV gain 25503493
nsv1141055 CNV deletion 24896259
nsv6836 CNV insertion 18451855

Variation tolerance for APOO Gene

Residual Variation Intolerance Score: 73.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOO Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOO

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOO Gene

Disorders for APOO Gene

MalaCards: The human disease database

(2) MalaCards diseases for APOO Gene - From: DISEASES

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
  • megdel
sengers syndrome
  • mitochondrial dna depletion syndrome 10 ; mtdps10
- elite association - COSMIC cancer census association via MalaCards
Search APOO in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APOO

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with APOO: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOO Gene

Publications for APOO Gene

  1. The non-glycosylated isoform of MIC26 is a constituent of the mammalian MICOS complex and promotes formation of crista junctions. (PMID: 25764979) Koob S … Reichert AS (Biochimica et biophysica acta 2015) 2 3 4 54
  2. Detailed analysis of the human mitochondrial contact site complex indicate a hierarchy of subunits. (PMID: 25781180) Ott C … Kozjak-Pavlovic V (PloS one 2015) 2 3 4 54
  3. ApoO, a novel apolipoprotein, is an original glycoprotein up-regulated by diabetes in human heart. (PMID: 16956892) Lamant M … Rouet P (The Journal of biological chemistry 2006) 2 3 4 54
  4. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V … Harper JW (eLife 2015) 3 4 54
  5. Apolipoprotein O is mitochondrial and promotes lipotoxicity in heart. (PMID: 24743151) Turkieh A … Smih F (The Journal of clinical investigation 2014) 3 4 54

Products for APOO Gene

Sources for APOO Gene