This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011] See more...

Aliases for APOOL Gene

Aliases for APOOL Gene

  • Apolipoprotein O Like 2 3 5
  • Mitochondrial Contact Site And Cristae Organizing System Subunit 27 2 3
  • Family With Sequence Similarity 121A 2 3
  • MICOS Complex Subunit MIC27 3 4
  • AAIR8193 2 3
  • CXorf33 3 4
  • FAM121A 3 4
  • MICOS27 2 3
  • UNQ8193 2 3
  • Mic27 2 3
  • Chromosome X Open Reading Frame 33 2
  • Apolipoprotein O-Like 4
  • Protein FAM121A 4
  • APOOL 5
  • MIC27 4

External Ids for APOOL Gene

Previous HGNC Symbols for APOOL Gene

  • CXorf33
  • FAM121A

Previous GeneCards Identifiers for APOOL Gene

  • GC0XP084146
  • GC0XP084258
  • GC0XP077832

Summaries for APOOL Gene

Entrez Gene Summary for APOOL Gene

  • This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011]

GeneCards Summary for APOOL Gene

APOOL (Apolipoprotein O Like) is a Protein Coding gene. Diseases associated with APOOL include Cone-Rod Dystrophy 1 and Deafness, X-Linked 2. Among its related pathways are Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is APOO.

UniProtKB/Swiss-Prot Summary for APOOL 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. Specifically binds to cardiolipin (in vitro) but not to the precursor lipid phosphatidylglycerol. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:23704930), (PubMed:25764979).

Additional gene information for APOOL Gene

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

Genomics for APOOL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APOOL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ085002 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.0 49 2.6 SP1 GATAD2A PRDM10 RFX1 PKNOX1 POLR2A REST IKZF2 BRD9 HDAC1 APOOL SATL1 RF00017-8557 ZNF711
GH0XJ085051 Enhancer 0.8 Ensembl ENCODE 12.1 +49.0 49049 2.6 CTCF RAD21 JUND CEBPB JUN FOS SCRT1 EP300 FOSL2 SMC3 SATL1 APOOL RF00017-8558 HSALNG0138890 ZNF711
GH0XJ085111 Enhancer 0.5 ENCODE 13.2 +108.5 108511 1.1 NR2C1 CTCF NFIC NR2F1 BHLHE40 NFIA ELF3 NRF1 SATL1 APOOL lnc-APOOL-1 piR-38351-531 ZNF711
GH0XJ085026 Enhancer 0.3 Ensembl 12.1 +22.4 22449 0.2 ZNF585B HDX APOOL RPS6KA6 RF00017-8557 RF00017-8558 ZNF711
GH0XJ085016 Enhancer 0.2 Ensembl 0.4 +13.2 13249 0.6 RF00017-8557 SATL1 APOOL RF00017-8558 ZNF711
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOOL on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the APOOL gene promoter:
  • AML1a
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Nkx2-2
  • Nkx6-1
  • POU6F1 (c2)
  • Spz1

Genomic Locations for APOOL Gene

Genomic Locations for APOOL Gene
chrX:85,003,852-85,093,316
(GRCh38/hg38)
Size:
89,465 bases
Orientation:
Plus strand
chrX:84,258,832-84,348,324
(GRCh37/hg19)
Size:
89,493 bases
Orientation:
Plus strand

Genomic View for APOOL Gene

Genes around APOOL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for APOOL Gene

Proteins for APOOL Gene

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

    Protein Symbol:
    Q6UXV4-MIC27_HUMAN
    Recommended name:
    MICOS complex subunit MIC27
    Protein Accession:
    Q6UXV4
    Secondary Accessions:
    • Q3KNU7
    • Q5H9D1

    Protein attributes for APOOL Gene

    Size:
    268 amino acids
    Molecular mass:
    29159 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 (PubMed:25764979, PubMed:25781180, PubMed:23704930, PubMed:25764979, PubMed:25781180, PubMed:25997101).The 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. 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 MICOS10/MIC10, IMMT/MIC60 and APOO/MIC23/MIC26 (PubMed:25764979, PubMed:25781180, PubMed:23704930, PubMed:25764979, PubMed:25781180, PubMed:25997101).

neXtProt entry for APOOL Gene

Post-translational modifications for APOOL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APOOL Gene

Antibody Products

  • Boster Bio Antibodies for APOOL
  • Santa Cruz Biotechnology (SCBT) Antibodies for APOOL

No data available for DME Specific Peptides for APOOL Gene

Domains & Families for APOOL Gene

Gene Families for APOOL Gene

Protein Domains for APOOL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOOL Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM121A (APOOL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UXV4

UniProtKB/Swiss-Prot:

MIC27_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 APOOL: view

Function for APOOL Gene

Molecular function for APOOL 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. Specifically binds to cardiolipin (in vitro) but not to the precursor lipid phosphatidylglycerol. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:23704930), (PubMed:25764979).

Gene Ontology (GO) - Molecular Function for APOOL Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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

Localization for APOOL Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOOL Gene

Mitochondrion inner membrane. Multi-pass membrane protein. Mitochondrion.

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 APOOL gene
Compartment Confidence
mitochondrion 5
extracellular 4
cytosol 2
plasma membrane 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APOOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001401 mitochondrial sorting and assembly machinery complex HDA 26477565
GO:0005576 extracellular region TAS --
GO:0005739 mitochondrion IEA,IDA 25781180
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with APOOL: view

Pathways & Interactions for APOOL Gene

genes like me logo Genes that share pathways with APOOL: view

Gene Ontology (GO) - Biological Process for APOOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007007 inner mitochondrial membrane organization IC 26477565
GO:0042407 cristae formation IEA,IBA 21873635
genes like me logo Genes that share ontologies with APOOL: view

No data available for SIGNOR curated interactions for APOOL Gene

Drugs & Compounds for APOOL Gene

No Compound Related Data Available

Transcripts for APOOL Gene

mRNA/cDNA for APOOL Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 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 APOOL

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

No ASD Table

Relevant External Links for APOOL Gene

GeneLoc Exon Structure for
APOOL

Expression for APOOL Gene

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

Protein differential expression in normal tissues from HIPED for APOOL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.3), Heart (8.0), and Brain (7.1).

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



Protein tissue co-expression partners for APOOL Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for APOOL Gene:

Hs.512181

Evidence on tissue expression from TISSUES for APOOL Gene

  • Liver(4.3)
  • Nervous system(2.9)
  • Heart(2.5)
genes like me logo Genes that share expression patterns with APOOL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for APOOL Gene

Orthologs for APOOL Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOOL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APOOL 30 31
  • 99.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia APOOL 30
  • 89.27 (n)
APOL 31
  • 88 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC608758 30
  • 88.51 (n)
APOOL 31
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Apool 30
  • 84.91 (n)
Mouse
(Mus musculus)
Mammalia Apool 30 17 31
  • 83.27 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia APOOL 31
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia APOOL 31
  • 39 (a)
OneToOne
Chicken
(Gallus gallus)
Aves APOOL 30 31
  • 64.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia APOOL 31
  • 47 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia apool 30
  • 59.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24724 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:110800 30
  • 53.01 (n)
APOOL 31
  • 22 (a)
OneToOne
Species where no ortholog for APOOL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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 APOOL Gene

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

Paralogs for APOOL Gene

Paralogs for APOOL Gene

(2) SIMAP similar genes for APOOL Gene using alignment to 1 proteins:

  • APOOL_HUMAN

Pseudogenes.org Pseudogenes for APOOL Gene

genes like me logo Genes that share paralogs with APOOL: view

Variants for APOOL Gene

Additional dbSNP identifiers (rs#s) for APOOL Gene

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

Variant ID Type Subtype PubMed ID
esv1139290 CNV deletion 17803354
esv1768621 CNV deletion 17803354
esv1925625 CNV deletion 18987734
esv2740267 CNV deletion 23290073
esv2740268 CNV deletion 23290073
esv2740269 CNV deletion 23290073
esv2740270 CNV deletion 23290073
esv2740271 CNV deletion 23290073
esv3240365 CNV deletion 24192839
esv3559046 CNV deletion 23714750

Variation tolerance for APOOL Gene

Residual Variation Intolerance Score: 79.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOOL Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOOL Gene

Disorders for APOOL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cone-rod dystrophy 1
  • retinitis pigmentosa 1
deafness, x-linked 2
  • dfnx2
- elite association - COSMIC cancer census association via MalaCards
Search APOOL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APOOL

genes like me logo Genes that share disorders with APOOL: view

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

Publications for APOOL Gene

  1. APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria. (PMID: 23704930) Weber TA … Reichert AS (PloS one 2013) 2 3 4
  2. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V … Harper JW (eLife 2015) 3 4
  3. Detailed analysis of the human mitochondrial contact site complex indicate a hierarchy of subunits. (PMID: 25781180) Ott C … Kozjak-Pavlovic V (PloS one 2015) 3 4
  4. 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) 3 4
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4

Products for APOOL Gene

Sources for APOOL Gene