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Aliases for APOOL Gene

Aliases for APOOL Gene

  • Apolipoprotein O Like 2 3 5
  • Family With Sequence Similarity 121A 2 3
  • CXorf33 3 4
  • FAM121A 3 4
  • Mic27 3 4
  • Chromosome X Open Reading Frame 33 2
  • MICOS Complex Subunit MIC27 3
  • Apolipoprotein O-Like 4
  • Protein FAM121A 4
  • AAIR8193 3
  • UNQ8193 3

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. Among its related pathways are Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is APOO.

UniProtKB/Swiss-Prot 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOOL Gene

Genomics for APOOL Gene

Regulatory Elements for APOOL Gene

Enhancers for APOOL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF085111 0.5 ENCODE 13.2 +108.5 108538 1.1 ELF3 NFIA NRF1 BHLHE40 SATL1 APOOL
GH0XF085051 0.9 Ensembl ENCODE 12.1 +49.0 48972 2.3 SCRT1 CTCF JUN CEBPB EP300 RAD21 JUND SMC3 FOS SATL1 APOOL
GH0XF085003 0.6 ENCODE 0.8 +0.4 359 1.9 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF121 KLF7 SP3 SP5 SATL1 APOOL
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around APOOL on UCSC Golden Path with GeneCards custom track

Promoters for APOOL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001490543 75 2600 PKNOX1 ARID4B FEZF1 DMAP1 YY1 ZNF121 KLF7 SP3 SP5 KAT8

Genomic Location for APOOL Gene

Chromosome:
X
Start:
85,003,826 bp from pter
End:
85,093,317 bp from pter
Size:
89,492 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 MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/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, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. Interacts with MINOS1/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

No data available for DME Specific Peptides for APOOL Gene

Domains & Families for APOOL Gene

Protein Domains for APOOL Gene

Suggested Antigen Peptide Sequences for APOOL Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for APOOL Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for APOOL Gene COMPARTMENTS Subcellular localization image for APOOL gene
Compartment Confidence
mitochondrion 5
cytosol 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for APOOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 25781180
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0061617 MICOS complex IEA,IDA 25781180
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

Interacting Proteins for APOOL Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000362268%0d%0a9606.ENSP00000356480%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000362268 Q6UXV4-MIC27_HUMAN for APOOL Gene via STRING IID

Gene Ontology (GO) - Biological Process for APOOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042407 cristae formation IEA --
genes like me logo Genes that share ontologies with APOOL: view

No data available for SIGNOR curated interactions for APOOL Gene

Transcripts for APOOL Gene

Unigene Clusters for APOOL Gene

Apolipoprotein O-like:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for APOOL Gene

GeneLoc Exon Structure for
APOOL
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of APOOL Gene:

APOOL

SOURCE GeneReport for Unigene cluster for APOOL Gene:

Hs.512181
genes like me logo Genes that share expression patterns with APOOL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.37 (n)
cow
(Bos Taurus)
Mammalia APOOL 34
  • 89.27 (n)
APOL 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC608758 34
  • 88.51 (n)
APOOL 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apool 34
  • 84.91 (n)
mouse
(Mus musculus)
Mammalia Apool 34 16 35
  • 83.27 (n)
oppossum
(Monodelphis domestica)
Mammalia APOOL 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOOL 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves APOOL 34 35
  • 64.75 (n)
lizard
(Anolis carolinensis)
Reptilia APOOL 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apool 34
  • 59.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24724 34
zebrafish
(Danio rerio)
Actinopterygii zgc:110800 34
  • 53.01 (n)
APOOL 35
  • 22 (a)
OneToOne
Species where no ortholog for APOOL 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)
  • 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 APOOL Gene

ENSEMBL:
Gene Tree for APOOL (if available)
TreeFam:
Gene Tree for APOOL (if available)

Paralogs for APOOL Gene

Paralogs for APOOL Gene

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

Pseudogenes.org Pseudogenes for APOOL Gene

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

Variants for APOOL Gene

Sequence variations from dbSNP and Humsavar for APOOL Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1011411 -- 85,049,987(-) CCCTA(A/G)AAAGG intron-variant
rs1011412 -- 85,049,055(-) GCAAA(C/T)GGCAA intron-variant
rs111319384 -- 85,012,913(+) AGTAG(A/G)ATTGG intron-variant
rs111367049 -- 85,093,516(+) CACCT(A/C)AAATG intron-variant, downstream-variant-500B
rs111390329 -- 85,086,235(+) TATCT(C/T)TTGCT intron-variant

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)

Relevant External Links for APOOL Gene

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

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

Disorders for APOOL Gene

Relevant External Links for APOOL

Genetic Association Database (GAD)
APOOL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APOOL

No disorders were found for APOOL Gene.

No data available for MalaCards , 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 T.A. … Reichert A.S. (PLoS ONE 2013) 2 3 4 64
  2. 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 A.S. (Biochim. Biophys. Acta 2015) 3 4 64
  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 64
  4. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V. … Harper J.W. (Elife 2015) 3 4 64
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64

Products for APOOL Gene

Sources for APOOL Gene

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