Aliases for APOOL Gene
Aliases for APOOL Gene
External Ids for APOOL Gene
- HGNC: 24009
- Entrez Gene: 139322
- Ensembl: ENSG00000155008
- OMIM: 300955
- UniProtKB: Q6UXV4
Previous HGNC Symbols for APOOL Gene
- CXorf33
- FAM121A
Previous GeneCards Identifiers for APOOL Gene
- GC0XP084146
- GC0XP084258
- GC0XP077832
Summaries 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 CIViC summary , 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
| 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 |
|---|---|---|---|---|---|---|---|---|
| GH0XG085051 | 0.9 | Ensembl ENCODE | 12.1 | +49.0 | 48972 | 2.3 | SCRT1 CTCF JUN CEBPB EP300 RAD21 JUND SMC3 FOS | SATL1 APOOL |
| GH0XG085111 | 0.6 | ENCODE | 13.2 | +108.5 | 108538 | 1.1 | ELF3 NFIC NFIA NR2F1 NRF1 BHLHE40 NR2C1 | SATL1 APOOL |
| GH0XG085003 | 1 | ENCODE | 0.7 | +0.4 | 359 | 1.9 | PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF121 KLF7 SP3 SP5 | SATL1 APOOL |
- Transcription factor binding sites by QIAGEN in the APOOL gene promoter:
Regulatory Element Products
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
- Cytogenetic band:
-
- Xq21.1 by Ensembl
- Xq21.1 by Entrez Gene
- Xq21.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for APOOL Gene
Post-translational modifications for APOOL Gene
Other Protein References for APOOL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for APOOL
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- GeneTex APOOL antibody for APOOL
-
Santa Cruz Biotechnology (SCBT) Antibodies for APOOL
Protein Products
-
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- antibodies-online Proteins for APOOL: See all 7
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Assay Products
- antibodies-online Kits for APOOL: See all 4
No data available for DME Specific Peptides for APOOL Gene
Domains & Families for APOOL Gene
Protein Domains for APOOL Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for APOOL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6UXV4UniProtKB/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.
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25764979 |
Phenotypes for APOOL Gene
- MGI mutant phenotypes for APOOL:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for APOOL:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for APOOL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APOOL gene
- Search ViGene Biosciences for APOOL
CRISPR Products
-
OriGene CRISPR knockouts for APOOL
-
Santa Cruz Biotechnology (SCBT) CRISPR for APOOL
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miRNA for APOOL Gene
- miRTarBase miRNAs that target APOOL
-
- hsa-mir-1277-5p (MIRT379801)
- hsa-mir-190a-3p (MIRT550698)
- hsa-mir-5011-5p (MIRT550699)
- hsa-mir-8061 (MIRT563509)
- hsa-mir-4760-5p (MIRT563510)
- hsa-mir-3924 (MIRT563511)
- hsa-mir-376a-5p (MIRT563512)
- hsa-mir-5580-3p (MIRT563513)
- hsa-mir-4536-5p (MIRT634839)
- hsa-mir-4733-5p (MIRT634840)
- hsa-mir-4318 (MIRT634841)
- hsa-mir-200a-3p (MIRT634842)
- hsa-mir-141-3p (MIRT634843)
- hsa-mir-24-3p (MIRT669521)
- hsa-mir-4284 (MIRT669522)
- hsa-mir-4746-3p (MIRT669523)
miRNA Products
- Search ViGene Biosciences for APOOL
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for APOOL
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-
ViGene Biosciences ready-to-package AAV shRNAs for APOOL gene
Clone Products
-
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- VectorBuilder custom plasmid, inducible vectors for APOOL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOOL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for APOOL
-
ViGene Biosciences adenoviral particle packaged cDNA for APOOL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for APOOL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APOOL gene
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005739 | mitochondrion | IEA,IDA | 25781180 |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for APOOL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
Pathways by source for APOOL Gene
4 Reactome pathways for APOOL Gene
Interacting Proteins for APOOL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002576 | platelet degranulation | TAS | -- |
| GO:0042407 | cristae formation | IEA | -- |
No data available for SIGNOR curated interactions for APOOL Gene
Transcripts for APOOL Gene
mRNA/cDNA for APOOL Gene
- (5) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (138) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for APOOL Gene
CRISPR Products
-
OriGene CRISPR knockouts for APOOL
-
Santa Cruz Biotechnology (SCBT) CRISPR for APOOL
- GenScript: Design CRISPR guide RNA sequences for APOOL
miRNA Products
- Search ViGene Biosciences for APOOL
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for APOOL
- Browse OriGene Inhibitory RNA Products For APOOL
-
ViGene Biosciences ready-to-package AAV shRNAs for APOOL gene
Clone Products
-
OriGene ORF clones in human for APOOL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for APOOL
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for APOOL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOOL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for APOOL Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for APOOL Gene
NURSA nuclear receptor signaling pathways regulating expression of APOOL Gene:
APOOLSOURCE GeneReport for Unigene cluster for APOOL Gene:
Hs.512181Evidence on tissue expression from TISSUES for APOOL Gene
- Liver(4.2)
- Nervous system(2.4)
Primer Products
-
OriGene qPCR primer pairs for APOOL
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | APOOL 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | APOOL 34 |
|
||
| APOL 35 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | LOC608758 34 |
|
||
| APOOL 35 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Apool 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Apool 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | APOOL 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | APOOL 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | APOOL 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | APOOL 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | apool 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24724 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:110800 34 |
|
||
| APOOL 35 |
|
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)
Paralogs for APOOL Gene
(2) SIMAP similar genes for APOOL Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for APOOL Gene
Variants for APOOL Gene
| SNP ID | Clin | Chr 0X pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000003272 | -- | 85,057,473(+) | ATATA(C/T)ATAAA | intron-variant | |
| rs1000022622 | -- | 85,074,457(+) | TCATT(A/C)GTGGT | intron-variant | |
| rs1000076861 | -- | 85,022,380(+) | ATAAT(C/T)GTTTA | intron-variant | |
| rs1000116122 | -- | 85,048,085(+) | CCGAA(C/G)TGTAG | intron-variant | |
| rs1000125313 | -- | 85,067,558(+) | GTTTG(A/G)TTCAG | intron-variant |
| 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 |
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
No disorders were found for APOOL Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for APOOL Gene
Publications for APOOL Gene
- 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
- 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
- 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
- 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
- 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
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- Custom Antibody ServicesOriGene Antibodies for APOOL
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- OriGene qPCR primer pairs for APOOL
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- GenScript: Next-day shipping cDNA ORF clone for APOOL in any vector
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- GenScript: Design CRISPR guide RNA sequences for APOOL
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- Novus Biologicals Antibodies for APOOL
- Novus Biologicals proteins and lysates for APOOL
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- antibodies-online Antibodies for APOOL: See all 29
- antibodies-online Kits for APOOL: See all 4
- antibodies-online Proteins for APOOL: See all 7
- Search antibodies-online for peptides
- GeneTex APOOL antibody for APOOL
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- ViGene Biosciences adenoviral particle packaged cDNA for APOOL gene
- ViGene Biosciences lentiviral particle packaged cDNA for APOOL gene
- ViGene Biosciences ready-to-package AAV shRNAs for APOOL gene
- Search ViGene Biosciences for APOOL
- Santa Cruz Biotechnology (SCBT) Antibodies for APOOL
- Search Santa Cruz Biotechnology (SCBT) for APOOL siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for APOOL
- Horizon Cell Lines for APOOL
- Cyagen custom Knockout/knockin (KOKI) mouse models for APOOL
- VectorBuilder custom plasmid, inducible vectors for APOOL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOOL
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for APOOL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (141) ENCODE
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- (143) Horizon
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- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




