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Aliases for APOOL Gene

Aliases for APOOL Gene

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

External Ids for APOOL Gene

Previous Symbols for APOOL Gene

  • CXorf33
  • FAM121A

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. 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.

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

Genomic Location for APOOL Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APOOL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOOL Gene

Regulatory Elements 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 and IMMT/MIC60. The complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2, and with HSPA9.
    Miscellaneous:
    • Overexpression of APOOL results in mitochondrial fragmentation, reduced oxygen consumption, and altered cristae morphology. Down-regulation impairs mitochondrial function and also alters cristae morphology (PubMed:23704930).
    SequenceCaution:
    • Sequence=CAI42458.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for APOOL Gene

Proteomics data for APOOL Gene at MOPED

Post-translational modifications for APOOL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APOOL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for APOOL Gene

Domains for APOOL Gene

Protein Domains for APOOL Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

MIC27_HUMAN
Family:
  • Belongs to the apolipoprotein O/MICOS complex subunit Mic27 family.:
    • Q6UXV4
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.

Phenotypes for APOOL Gene

MGI mutant phenotypes for APOOL:
inferred from 1 alleles
GenomeRNAi human phenotypes for APOOL:
genes like me logo Genes that share phenotypes with APOOL: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APOOL Gene COMPARTMENTS Subcellular localization image for APOOL gene
Compartment Confidence
extracellular 3
mitochondrion 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for APOOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with APOOL: view

Pathways for APOOL Gene

SuperPathways for APOOL Gene

No Data Available

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 for APOOL Gene via STRING

Gene Ontology (GO) - Biological Process for APOOL Gene

None

No data available for Pathways by source for APOOL Gene

Transcripts for APOOL Gene

Unigene Clusters for APOOL Gene

Apolipoprotein O-like:
Representative Sequences:

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 for APOOL Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for APOOL Gene

SOURCE GeneReport for Unigene cluster for APOOL Gene Hs.512181

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

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 36
  • 99.37 (n)
  • 98.86 (a)
APOOL 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APOL 37
  • 88 (a)
OneToOne
APOOL 36
  • 89.27 (n)
  • 87.5 (a)
dog
(Canis familiaris)
Mammalia APOOL 37
  • 86 (a)
OneToOne
LOC608758 36
  • 88.51 (n)
  • 85.77 (a)
mouse
(Mus musculus)
Mammalia Apool 36
  • 83.27 (n)
  • 77.74 (a)
Apool 16
Apool 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APOOL 37
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOOL 37
  • 39 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apool 36
  • 84.91 (n)
  • 77.95 (a)
chicken
(Gallus gallus)
Aves APOOL 36
  • 64.75 (n)
  • 56.32 (a)
APOOL 37
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APOOL 37
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24724 36
tropical clawed frog
(Silurana tropicalis)
Amphibia apool 36
  • 59.22 (n)
  • 50 (a)
zebrafish
(Danio rerio)
Actinopterygii APOOL 37
  • 22 (a)
OneToOne
zgc:110800 36
  • 53.01 (n)
  • 45.85 (a)
Species with no ortholog for APOOL:
  • 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

Selected 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 MAF
rs11779 -- 85,089,658(+) ACCCC(C/T)ATATC utr-variant-3-prime
rs12008 -- 85,089,732(+) TGCCA(A/G)TGTCA utr-variant-3-prime
rs471428 -- 85,042,528(-) tattt(C/T)ttctt intron-variant
rs491066 -- 85,045,566(+) GGAAG(C/G)TTCTT intron-variant
rs509717 -- 85,039,230(-) aagtc(A/G)atacc intron-variant

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

Variant ID Type Subtype PubMed ID
esv2740267 CNV Deletion 23290073
esv2740268 CNV Deletion 23290073
esv2740269 CNV Deletion 23290073
esv1768621 CNV Deletion 17803354
esv1925625 CNV Deletion 18987734
esv2740270 CNV Deletion 23290073
esv2740271 CNV Deletion 23290073
esv1139290 CNV Deletion 17803354

Relevant External Links for APOOL Gene

HapMap Linkage Disequilibrium report
APOOL
Locus Specific Mutation Databases (LSDB)
APOOL

Disorders for APOOL Gene

Relevant External Links for APOOL

Genetic Association Database (GAD)
APOOL
genes like me logo Genes that share disorders with APOOL: view

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

Publications for APOOL Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  4. 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) 3 4
  5. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3

Products for APOOL Gene

Sources for APOOL Gene

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