SPATA18 spermatogenesis associated 18 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
SPATA18 Expression Predicts Favorable Clinical Outcome in Colorectal Cancer.
Title: SPATA18 Expression Predicts Favorable Clinical Outcome in Colorectal Cancer.
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.
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.
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.
DNA damage invokes mitophagy through a pathway involving Spata18.
Title: DNA damage invokes mitophagy through a pathway involving Spata18.
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.
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.
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.
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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62844 (e-PCR)
- UniSTS:139969

SHGC-67817 (e-PCR)
- UniSTS:35547

SHGC-144562 (e-PCR)
- UniSTS:172279

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 more info	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

NG_051630.1 RefSeqGene

Range

4974..50969

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC093858
NM_001346103.2 → NP_001333032.1 mitochondria-eating protein isoform 4

Status: REVIEWED

Source sequence(s)

AC093858
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

NR_123728.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC093858, AI339078, AK314799, BC025396, BU930386, CK904112, DC404003
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

52051304..52097299

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam16026
Location:298 → 343

MIEAP; Mitochondria-eating protein
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
XM_047449604.1 → XP_047305560.1 mitochondria-eating protein isoform X1
XM_047449606.1 → XP_047305562.1 mitochondria-eating protein isoform X5
XM_017007731.3 → XP_016863220.1 mitochondria-eating protein isoform X2
XM_047449605.1 → XP_047305561.1 mitochondria-eating protein isoform X3