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    SPATA18 spermatogenesis associated 18 [ Homo sapiens (human) ]

    Gene ID: 132671, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SPATA18provided by HGNC
    Official Full Name
    spermatogenesis associated 18provided by HGNC
    Primary source
    HGNC:HGNC:29579
    See related
    Ensembl:ENSG00000163071 MIM:612814; AllianceGenome:HGNC:29579
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Mieap; SPETEX1
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 22.6), lung (RPKM 5.4) and 14 other tissues See more
    Orthologs
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    Genomic context

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    See SPATA18 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (52051304..52097299)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (55537244..55583378)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (52917470..52963465)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15421 Neighboring gene H3K27ac hESC enhancers GRCh37_chr4:52917119-52917620 and GRCh37_chr4:52917621-52918120 Neighboring gene long intergenic non-protein coding RNA 2480 Neighboring gene sarcoglycan beta Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:53068243-53068918 Neighboring gene NANOG hESC enhancer GRCh37_chr4:53135291-53135887 Neighboring gene uncharacterized LOC107986279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:53243316-53243864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:53243865-53244412 Neighboring gene metallophosphoesterase 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. High SPATA18 Expression and its Diagnostic and Prognostic Value in Clear Cell Renal Cell Carcinoma. Lingui X, et al. Med Sci Monit, 2023 Feb 8. PMID 36751118, Free PMC Article
    2. SPATA18 Expression Predicts Favorable Clinical Outcome in Colorectal Cancer. Sugimura-Nagata A, et al. Int J Mol Sci, 2022 Mar 2. PMID 35269894, Free PMC Article
    3. Causative role for defective expression of mitochondria-eating protein in accumulation of mitochondria in thyroid oncocytic cell tumors. Mussazhanova Z, et al. Cancer Sci, 2020 Aug. PMID 32458504, Free PMC Article
    4. Possible role of p53/Mieap-regulated mitochondrial quality control as a tumor suppressor in human breast cancer. Gaowa S, et al. Cancer Sci, 2018 Dec. PMID 30290054, Free PMC Article
    5. Complementary DNA cloning of rat spetex-1, a spermatid-expressing gene-1, encoding a 63 kDa cytoplasmic protein of elongate spermatids. Iida H, et al. Mol Reprod Dev, 2004 Aug. PMID 15236321

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High SPATA18 Expression and its Diagnostic and Prognostic Value in Clear Cell Renal Cell Carcinoma.
      Title: High SPATA18 Expression and its Diagnostic and Prognostic Value in Clear Cell Renal Cell Carcinoma.
    2. SPATA18 Expression Predicts Favorable Clinical Outcome in Colorectal Cancer.
      Title: SPATA18 Expression Predicts Favorable Clinical Outcome in Colorectal Cancer.
    3. p53/Mieap-regulated mitochondrial quality control plays an important role as a tumor suppressor in gastric and esophageal cancers.
      Title: p53/Mieap-regulated mitochondrial quality control plays an important role as a tumor suppressor in gastric and esophageal cancers.
    4. Causative role for defective expression of mitochondria-eating protein in accumulation of mitochondria in thyroid oncocytic cell tumors.
      Title: Causative role for defective expression of mitochondria-eating protein in accumulation of mitochondria in thyroid oncocytic cell tumors.
    5. Mieap-induced accumulation of lysosomes within mitochondria (MALM) regulates gastric cancer cell invasion under hypoxia by suppressing reactive oxygen species accumulation.
      Title: Mieap-induced accumulation of lysosomes within mitochondria (MALM) regulates gastric cancer cell invasion under hypoxia by suppressing reactive oxygen species accumulation.
    6. DNA damage invokes mitophagy through a pathway involving Spata18.
      Title: DNA damage invokes mitophagy through a pathway involving Spata18.
    7. Results show that Mieap induced caspase-dependent mitochondrial apoptosis in breast cancer (BC) cells. Mieap protein was downregulated and its promoter methylated in BC with more aggressive and malignant phenotypes.
      Title: Possible role of p53/Mieap-regulated mitochondrial quality control as a tumor suppressor in human breast cancer.
    8. The physical interaction of Mieap, BNIP3 and NIX at the mitochondrial outer membrane may play a critical role in the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix.
      Title: BNIP3 and NIX mediate Mieap-induced accumulation of lysosomal proteins within mitochondria.
    9. Mieap induced vacuole-like structures (designated as MIV for Mieap-induced vacuole), which engulfed and degraded the unhealthy mitochondria by accumulating lysosomes
      Title: Mieap, a p53-inducible protein, controls mitochondrial quality by repairing or eliminating unhealthy mitochondria.
    10. Mieap induces intramitochondrial lysosome-like organella that plays a critical role in mitochondrial quality control by eliminating oxidized mitochondrial proteins
      Title: Possible existence of lysosome-like organella within mitochondria and its role in mitochondrial quality control.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32906

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cardiolipin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitophagy by internal vacuole formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitophagy by internal vacuole formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cardiolipin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in intracellular non-membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondria-eating protein
    Names
    spermatogenesis associated 18 homolog
    testis tissue sperm-binding protein Li 71n

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051630.1 RefSeqGene

      Range
      4974..50969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001297608.2 → NP_001284537.1  mitochondria-eating protein isoform 2

      See identical proteins and their annotated locations for NP_001284537.1

      Status: REVIEWED

      Source sequence(s)
      AC093858, AI339078, AK304386, BC025396, BU930386, CK904112, DC404003
      Consensus CDS
      CCDS75124.1
      UniProtKB/TrEMBL
      E7EVV3
      Related
      ENSP00000415309.2, ENST00000419395.6
      Conserved Domains (1) summary
      pfam16026
      Location:266 → 453
      MIEAP; Mitochondria-eating protein

    2. NM_001346102.2 → NP_001333031.1  mitochondria-eating protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC093858

    3. NM_001346103.2 → NP_001333032.1  mitochondria-eating protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC093858

    4. NM_145263.4 → NP_660306.1  mitochondria-eating protein isoform 1

      See identical proteins and their annotated locations for NP_660306.1

      Status: REVIEWED

      Source sequence(s)
      AC093858, AI339078, BC025396, BU930386, CK904112, DC404003
      Consensus CDS
      CCDS3489.1
      UniProtKB/Swiss-Prot
      B4E2R0, E5RLK1, Q8IY48, Q8N7D7, Q8TC71
      UniProtKB/TrEMBL
      A0A140VKF4, E7EVV3
      Related
      ENSP00000295213.4, ENST00000295213.9
      Conserved Domains (2) summary
      pfam16026
      Location:298 → 485
      MIEAP; Mitochondria-eating protein
      pfam16046
      Location:110 → 247
      FAM76; FAM76 protein

    RNA

    1. NR_123728.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093858, AI339078, AK314799, BC025396, BU930386, CK904112, DC404003

    2. NR_144359.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093858

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      52051304..52097299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265717.3 → XP_005265774.1  mitochondria-eating protein isoform X4

      Conserved Domains (1) summary
      pfam16026
      Location:298 → 343
      MIEAP; Mitochondria-eating protein

    2. XM_011534372.2 → XP_011532674.1  mitochondria-eating protein isoform X6

      See identical proteins and their annotated locations for XP_011532674.1

      Conserved Domains (1) summary
      pfam16026
      Location:73 → 260
      MIEAP; Mitochondria-eating protein

    3. XM_047449604.1 → XP_047305560.1  mitochondria-eating protein isoform X1

    4. XM_047449606.1 → XP_047305562.1  mitochondria-eating protein isoform X5

    5. XM_017007731.3 → XP_016863220.1  mitochondria-eating protein isoform X2

    6. XM_047449605.1 → XP_047305561.1  mitochondria-eating protein isoform X3

    RNA

    1. XR_007096360.1 RNA Sequence

    2. XR_941044.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      55537244..55583378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348919.1 → XP_054204894.1  mitochondria-eating protein isoform X4

    2. XM_054348921.1 → XP_054204896.1  mitochondria-eating protein isoform X6

    3. XM_054348916.1 → XP_054204891.1  mitochondria-eating protein isoform X1

    4. XM_054348920.1 → XP_054204895.1  mitochondria-eating protein isoform X5

    5. XM_054348917.1 → XP_054204892.1  mitochondria-eating protein isoform X2

    6. XM_054348918.1 → XP_054204893.1  mitochondria-eating protein isoform X3

    RNA

    1. XR_008486909.1 RNA Sequence

    2. XR_008486910.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC71.1 GenPept UniProtKB/Swiss-Prot:Q8TC71

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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