SPATA18 - spermatogenesis associated 18 Gene

Homo sapiens

Also known as Mieap; SPETEX1

Gene ID: 132671 | Gene type: protein coding

About SPATA18

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:52,051,304-52,097,299 (from NCBI)

This gene has 10 transcripts (splice variants) and 222 orthologues. Broad expression in testis (RPKM 22.6), lung (RPKM 5.4) and 14 other tissues.

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]

SPATA18 Products(4)

mRNA	Protein	Name
NM_001297608.2	NP_001284537.1	mitochondria-eating protein isoform 2
NM_001346102.2	NP_001333031.1	mitochondria-eating protein isoform 3 precursor
NM_001346103.2	NP_001333032.1	mitochondria-eating protein isoform 4
NM_145263.4	NP_660306.1	mitochondria-eating protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cardiolipin binding	IDA IDA: Inferred from direct assay	38322995	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables molecular condensate scaffold activity	IDA IDA: Inferred from direct assay	38322995	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21264221	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	21264221	GOA
involved in mitochondrial protein catabolic process	IMP IMP: Inferred from mutant phenotype	21264221	GOA
involved in mitophagy by internal vacuole formation	IMP IMP: Inferred from mutant phenotype	21264228	GOA
involved in positive regulation of cardiolipin metabolic process	IMP IMP: Inferred from mutant phenotype	38322995	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	21264221	GOA
located in intracellular membrane-bounded organelle	IDA IDA: Inferred from direct assay	21264228	GOA
is active in intracellular non-membrane-bounded organelle	IDA IDA: Inferred from direct assay	38322995	GOA
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	21264228	GOA
is active in mitochondrion	IDA IDA: Inferred from direct assay	38322995	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	21264221	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

mitochondria-eating protein

spermatogenesis associated 18 homolog

Related Diseases

Diseases

Alias

Bronchus Cancer

Malignant Neoplasm Of Bronchus And Lung	Bronchus Carcinoma
Bronchogenic Carcinoma	Malignant Neoplasm Of Bronchus Or Lung
Bc - Bronchogenic Carcinoma	Carcinoma, Bronchogenic
Bronchial Neoplasms

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13638	SPATA18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPATA18	MGD	MGI:1920722
Bos taurus	SPATA18	VGNC	VGNC:35176
Rattus norvegicus	SPATA18	RGD	RGD:735208
Canis familiaris	SPATA18	VGNC	VGNC:46706
Felis catus	SPATA18	VGNC	VGNC:80009
Macaca mulatta	SPATA18	VGNC	VGNC:78013

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