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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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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Gene LinkOut

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