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SPATA18 spermatogenesis associated 18 [ Homo sapiens (human) ]

Gene ID: 132671, updated on 1-Mar-2021

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
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

See SPATA18 in Genome Data Viewer
Location:
4q12
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (52051304..52097299)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (52917470..52963465)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2480 Neighboring gene sarcoglycan beta Neighboring gene uncharacterized LOC107986279 Neighboring gene uncharacterized LOC112268466 Neighboring gene metallophosphoesterase 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32906

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitophagy by induced vacuole formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitophagy by induced vacuole formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

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_001297608.2NP_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/Swiss-Prot
    Q8TC71
    Related
    ENSP00000415309.2, ENST00000419395.6
    Conserved Domains (1) summary
    pfam16026
    Location:266453
    MIEAP; Mitochondria-eating protein
  2. NM_001346102.2NP_001333031.1  mitochondria-eating protein isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC093858
  3. NM_001346103.2NP_001333032.1  mitochondria-eating protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC093858
  4. NM_145263.4NP_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
    Q8TC71
    UniProtKB/TrEMBL
    A0A140VKF4
    Related
    ENSP00000295213.4, ENST00000295213.9
    Conserved Domains (2) summary
    pfam16026
    Location:298485
    MIEAP; Mitochondria-eating protein
    pfam16046
    Location:110247
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011534370.1XP_011532672.1  mitochondria-eating protein isoform X3

    Conserved Domains (1) summary
    pfam16026
    Location:168355
    MIEAP; Mitochondria-eating protein
  2. XM_005265717.2XP_005265774.1  mitochondria-eating protein isoform X4

    Conserved Domains (1) summary
    pfam16026
    Location:298343
    MIEAP; Mitochondria-eating protein
  3. XM_011534369.1XP_011532671.1  mitochondria-eating protein isoform X1

    Conserved Domains (1) summary
    pfam16026
    Location:193380
    MIEAP; Mitochondria-eating protein
  4. XM_024453891.1XP_024309659.1  mitochondria-eating protein isoform X5

    Conserved Domains (1) summary
    pfam16026
    Location:81268
    MIEAP; Mitochondria-eating protein
  5. XM_011534372.1XP_011532674.1  mitochondria-eating protein isoform X6

    See identical proteins and their annotated locations for XP_011532674.1

    Conserved Domains (1) summary
    pfam16026
    Location:73260
    MIEAP; Mitochondria-eating protein
  6. XM_017007731.2XP_016863220.1  mitochondria-eating protein isoform X2

RNA

  1. XR_002959709.1 RNA Sequence

  2. XR_941044.1 RNA Sequence

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