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Aliases for SPATA18 Gene

Aliases for SPATA18 Gene

  • Spermatogenesis Associated 18 2 3 5
  • Mieap 3 4
  • Spermatogenesis Associated 18 Homolog (Rat) 2
  • Testis Tissue Sperm-Binding Protein Li 71n 3
  • Spermatogenesis Associated 18 Homolog 3
  • Spermatogenesis-Associated Protein 18 4
  • Mitochondria-Eating Protein 3
  • SPETEX1 3

External Ids for SPATA18 Gene

Previous GeneCards Identifiers for SPATA18 Gene

  • GC04P052759
  • GC04P052612
  • GC04P052917
  • GC04P048859

Summaries for SPATA18 Gene

Entrez Gene Summary for SPATA18 Gene

  • 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]

GeneCards Summary for SPATA18 Gene

SPATA18 (Spermatogenesis Associated 18) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SPATA18 Gene

  • 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.

Additional gene information for SPATA18 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA18 Gene

Genomics for SPATA18 Gene

Regulatory Elements for SPATA18 Gene

Enhancers for SPATA18 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
GH04H051858 0.7 ENCODE 10.1 -191.9 -191922 1 FOXA2 MAX ZNF384 ZBTB40 RAD21 YY1 ZNF316 HNF4G MAFK REST SPATA18 DUTP7 PIR46111
GH04H052882 0.4 ENCODE 4.5 +832.2 832210 1 ZFHX2 EGR2 DANCR SPATA18 GC04M052884 PIR51358
GH04H052051 0.9 ENCODE 0.7 +0.7 663 1 TBP PKNOX1 ATF1 ARID4B SIN3A DMAP1 BMI1 DNMT3B ZNF121 GLIS2 SGCB SPATA18 GC04P052290
GH04H052059 0.2 ENCODE 0.4 +8.2 8229 0 SGCB SPATA18 GC04P052290
GH04H052106 0.4 ENCODE 0.2 +55.6 55599 0 HLF FEZF1 SPATA18 GC04P052290
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPATA18 on UCSC Golden Path with GeneCards custom track

Promoters for SPATA18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000168218 469 1601 PKNOX1 ATF1 ARID4B SIN3A DMAP1 BMI1 DNMT3B ZNF121 GLIS2 IKZF2

Genomic Location for SPATA18 Gene

Chromosome:
4
Start:
52,051,331 bp from pter
End:
52,097,305 bp from pter
Size:
45,975 bases
Orientation:
Plus strand

Genomic View for SPATA18 Gene

Genes around SPATA18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA18 Gene

Proteins for SPATA18 Gene

  • Protein details for SPATA18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC71-MIEAP_HUMAN
    Recommended name:
    Mitochondria-eating protein
    Protein Accession:
    Q8TC71
    Secondary Accessions:
    • B4E2R0
    • E5RLK1
    • Q8IY48
    • Q8N7D7

    Protein attributes for SPATA18 Gene

    Size:
    538 amino acids
    Molecular mass:
    61109 Da
    Quaternary structure:
    • Interacts (via coiled-coil domains) with BNIP3L (via BH3 domain). Interacts (via coiled-coil domains) with BNIP3 (via BH3 domain).
    SequenceCaution:
    • Sequence=BAC05356.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPATA18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATA18 Gene

Post-translational modifications for SPATA18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPATA18 Gene

Domains & Families for SPATA18 Gene

Gene Families for SPATA18 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPATA18 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPATA18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TC71

UniProtKB/Swiss-Prot:

MIEAP_HUMAN :
  • Belongs to the MIEAP family.
Family:
  • Belongs to the MIEAP family.
genes like me logo Genes that share domains with SPATA18: view

Function for SPATA18 Gene

Molecular function for SPATA18 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By p53/TP53 and p63/TP63. Directly activated by p53/TP53.

Gene Ontology (GO) - Molecular Function for SPATA18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21264221
genes like me logo Genes that share ontologies with SPATA18: view

Phenotypes for SPATA18 Gene

genes like me logo Genes that share phenotypes with SPATA18: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPATA18
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPATA18 Gene

Localization for SPATA18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA18 Gene

Cytoplasm. Mitochondrion outer membrane. Note=Localizes to the cytoplasm under normal conditions (PubMed:21264228). Relocalizes to mitochondrion outer membrane following cellular stress. Colocalizes with BNIP3 and BNIP3L at the mitochondrion outer membrane (PubMed:22292033). {ECO:0000269 PubMed:21264228, ECO:0000269 PubMed:22292033}.

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 SPATA18 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
lysosome 2

Gene Ontology (GO) - Cellular Components for SPATA18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 21264221
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA,IDA 21264221
GO:0016020 membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA 21264228
genes like me logo Genes that share ontologies with SPATA18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPATA18 Gene

Pathways & Interactions for SPATA18 Gene

SuperPathways for SPATA18 Gene

No Data Available

Interacting Proteins for SPATA18 Gene

Gene Ontology (GO) - Biological Process for SPATA18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IDA 21264221
GO:0033554 cellular response to stress IEA --
GO:0035694 mitochondrial protein catabolic process IMP 21264221
GO:0035695 mitophagy by induced vacuole formation IMP 21264228
genes like me logo Genes that share ontologies with SPATA18: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA18 Gene

Drugs & Compounds for SPATA18 Gene

No Compound Related Data Available

Transcripts for SPATA18 Gene

Unigene Clusters for SPATA18 Gene

Spermatogenesis associated 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPATA18
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA18 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - -
SP2: - -
SP3:
SP4: - - - -
SP5: - - - - -
SP6: -
SP7: - - - - - - - - - -
SP8: - - - - - -
SP9:

Relevant External Links for SPATA18 Gene

GeneLoc Exon Structure for
SPATA18
ECgene alternative splicing isoforms for
SPATA18

Expression for SPATA18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPATA18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPATA18 Gene

This gene is overexpressed in Testis (x11.8).

Protein differential expression in normal tissues from HIPED for SPATA18 Gene

This gene is overexpressed in Nasal epithelium (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPATA18 Gene



Protein tissue co-expression partners for SPATA18 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPATA18 Gene:

SPATA18

SOURCE GeneReport for Unigene cluster for SPATA18 Gene:

Hs.527090
genes like me logo Genes that share expression patterns with SPATA18: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA18 Gene

Orthologs for SPATA18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATA18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPATA18 33 34
  • 99.07 (n)
cow
(Bos Taurus)
Mammalia SPATA18 33 34
  • 86.01 (n)
dog
(Canis familiaris)
Mammalia SPATA18 33 34
  • 85.23 (n)
mouse
(Mus musculus)
Mammalia Spata18 16 34 33
  • 77.65 (n)
rat
(Rattus norvegicus)
Mammalia Spata18 33
  • 75.87 (n)
oppossum
(Monodelphis domestica)
Mammalia SPATA18 34
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPATA18 34
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPATA18 33 34
  • 59.27 (n)
lizard
(Anolis carolinensis)
Reptilia SPATA18 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spata18 33
  • 60.27 (n)
zebrafish
(Danio rerio)
Actinopterygii spata18 34 33
  • 57.68 (n)
OneToOne
Dr.13864 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4160 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3999 34
  • 45 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1722 33
Species where no ortholog for SPATA18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 SPATA18 Gene

ENSEMBL:
Gene Tree for SPATA18 (if available)
TreeFam:
Gene Tree for SPATA18 (if available)

Paralogs for SPATA18 Gene

No data available for Paralogs for SPATA18 Gene

Variants for SPATA18 Gene

Sequence variations from dbSNP and Humsavar for SPATA18 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs193921037 Uncertain significance 52,077,011(+) AGACC(A/C/G)TTCAG nc-transcript-variant, reference, missense
rs1000032921 -- 52,083,732(+) GAGTA(A/G)GATCC intron-variant
rs10000556 -- 52,085,278(+) TATTA(G/T)AGATC intron-variant
rs1000083111 -- 52,085,093(+) ATAAG(A/T)CTACA intron-variant
rs1000092787 -- 52,063,955(+) CAGCA(C/T)CAGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPATA18 Gene

Variant ID Type Subtype PubMed ID
dgv2984e59 CNV tandem duplication 20981092
esv1364839 CNV insertion 17803354
esv3354585 CNV duplication 20981092
esv7897 CNV gain 19470904
nsv1143088 CNV tandem duplication 24896259
nsv594201 CNV loss 21841781
nsv829932 CNV gain 17160897
nsv829933 CNV gain 17160897

Variation tolerance for SPATA18 Gene

Residual Variation Intolerance Score: 92.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA18 Gene

Disorders for SPATA18 Gene

Relevant External Links for SPATA18

Genetic Association Database (GAD)
SPATA18
Human Genome Epidemiology (HuGE) Navigator
SPATA18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA18

No disorders were found for SPATA18 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPATA18 Gene

Publications for SPATA18 Gene

  1. SPATA18, a spermatogenesis-associated gene, is a novel transcriptional target of p53 and p63. (PMID: 21300779) Bornstein C … Rotter V (Molecular and cellular biology 2011) 2 3 4 60
  2. BNIP3 and NIX mediate Mieap-induced accumulation of lysosomal proteins within mitochondria. (PMID: 22292033) Nakamura Y … Arakawa H (PloS one 2012) 3 4 60
  3. Mieap, a p53-inducible protein, controls mitochondrial quality by repairing or eliminating unhealthy mitochondria. (PMID: 21264228) Kitamura N … Arakawa H (PloS one 2011) 3 4 60
  4. Possible existence of lysosome-like organella within mitochondria and its role in mitochondrial quality control. (PMID: 21264221) Miyamoto Y … Arakawa H (PloS one 2011) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for SPATA18 Gene

Sources for SPATA18 Gene

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