Human Gene SPATA18 (uc003gzl.1)
  Description: spermatogenesis associated 18 homolog
RefSeq Summary (NM_145263): This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
Transcript (Including UTRs)
   Position: hg18 chr4:52,612,350-52,658,215 Size: 45,866 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg18 chr4:52,612,628-52,655,810 Size: 43,183 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Model InformationMethods
Data last updated at UCSC: 2009-03-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:52,612,350-52,658,215)mRNA (may differ from genome)Protein (538 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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PubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MIEAP_HUMAN
DESCRIPTION: RecName: Full=Mitochondria-eating protein; AltName: Full=Spermatogenesis-associated protein 18;
FUNCTION: Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade unhealthy mitochondria by accumulating lysosomes. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix.
SUBUNIT: Interacts (via coiled-coil domains) with BNIP3L (via BH3 domain). Interacts (via coiled-coil domains) with BNIP3 (via BH3 domain).
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion outer membrane. Note=Localizes to the cytoplasm under normal conditions. Relocalizes to mitochondrion outer membrane following cellular stress. Colocalizes with BNIP3 and BNIP3L at the mitochondrion outer membrane.
INDUCTION: By p53/TP53 and p63/TP63. Directly activated by p53/TP53.
SIMILARITY: Belongs to the MIEAP family.
SEQUENCE CAUTION: Sequence=BAC05356.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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Affymetrix All Exon Microarrays

           
Ratios

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -126.50278-0.455 Picture PostScript Text
3' UTR -619.372405-0.258 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026169 - MIEAP

ModBase Predicted Comparative 3D Structure on Q8TC71
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006974 cellular response to DNA damage stimulus
GO:0033554 cellular response to stress
GO:0035694 mitochondrial protein catabolic process
GO:0035695 mitophagy by induced vacuole formation

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK304386 - Homo sapiens cDNA FLJ52090 complete cds, highly similar to Homo sapiens spermatogenesis associated 18 homolog (SPATA18), mRNA.
AK057468 - Homo sapiens cDNA FLJ32906 fis, clone TESTI2005731.
BC025396 - Homo sapiens spermatogenesis associated 18 homolog (rat), mRNA (cDNA clone MGC:26952 IMAGE:4821894), complete cds.
AK314799 - Homo sapiens cDNA, FLJ95672.
AB465501 - Homo sapiens Mieap-alpha mRNA for mitochondria-eating protein alpha, complete cds.
AB465502 - Homo sapiens Mieap-beta mRNA for mitochondria-eating protein beta, complete cds.
AK098625 - Homo sapiens cDNA FLJ25759 fis, clone TST06249.
BC037886 - Homo sapiens spermatogenesis associated 18 homolog (rat), mRNA (cDNA clone IMAGE:5274651), partial cds.
JD390752 - Sequence 371776 from Patent EP1572962.
JD378396 - Sequence 359420 from Patent EP1572962.
JD428808 - Sequence 409832 from Patent EP1572962.
JD449858 - Sequence 430882 from Patent EP1572962.
JD382278 - Sequence 363302 from Patent EP1572962.
JD385212 - Sequence 366236 from Patent EP1572962.
JD529948 - Sequence 510972 from Patent EP1572962.
JD538743 - Sequence 519767 from Patent EP1572962.
JD431645 - Sequence 412669 from Patent EP1572962.
KJ900146 - Synthetic construct Homo sapiens clone ccsbBroadEn_09540 SPATA18 gene, encodes complete protein.
JD076434 - Sequence 57458 from Patent EP1572962.
JD178749 - Sequence 159773 from Patent EP1572962.
JD039704 - Sequence 20728 from Patent EP1572962.
JD084657 - Sequence 65681 from Patent EP1572962.
JD303631 - Sequence 284655 from Patent EP1572962.
JD258985 - Sequence 240009 from Patent EP1572962.
JD164771 - Sequence 145795 from Patent EP1572962.
JD258320 - Sequence 239344 from Patent EP1572962.
JD046694 - Sequence 27718 from Patent EP1572962.
HM005694 - Homo sapiens clone HTL-T-71n testis tissue sperm-binding protein Li 71n mRNA, complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_145263, NP_660306, Q8IY48, Q8N7D7, Q8TC71, SPT18_HUMAN
UCSC ID: uc003gzl.1
RefSeq Accession: NM_145263
Protein: Q8TC71 (aka MIEAP_HUMAN)
CCDS: CCDS3489.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_145263.2
exon count: 13CDS single in 3' UTR: no RNA size: 4314
ORF size: 1617CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 3282.50frame shift in genome: no % Coverage: 99.68
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.