SPATA18 Gene
protein-coding GIFtS : 45 GCID: GC04 P052917
spermatogenesis associated 18 spermatogenesis associated 18 homolog (rat) )
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Aliasesfor SPATA18 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Spermatogenesis Associated 18 1 2 Mieap2 Spermatogenesis-Associated Protein 182 3 Mitochondria-Eating Protein2 SPETEX12 5 Spermatogenesis Associated 18 Homolog2 FLJ329061 MIEAP3 Spermatogenesis Associated 18 Homolog (Rat)1
Export aliases for SPATA18 gene to outside databases Previous GC identifers: GC04P052759 GC04P052612 GC04P048859
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Summariesfor SPATA18 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section UniProtKB/Swiss-Prot: MIEAP_HUMAN, Q8TC71 Function : Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondriain response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade unhealthy mitochondria by accumulating lysosomes. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix
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Genomic Viewsfor SPATA18 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000004.11 NC_018915.1 NT_022853.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SPATA18 gene promoter:HOXA9 p53 AP-1 ATF-2 Nkx2-5 CREB deltaCREB c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for SPATA18 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 4q12 Ensembl cytogenetic band: 4q12 HGNC cytogenetic band: 4q11 SPATA18 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 4 GeneLoc Exon Structure
GeneLoc location for GC04P052917: view genomic region
(about GC identifiers )
Start: 52,917,497 bp from pter End:
52,963,458 bp from pter
Size: 45,962 bases Orientation:
plus strand
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Proteinsfor SPATA18 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: MIEAP_HUMAN, Q8TC71 See
protein sequence )Recommended Name: Size : 538 amino acids; 61109 DaSubunit : Interacts (via coiled-coil domains) with BNIP3L (via BH3 domain). Interacts (via coiled-coil domains) withBNIP3 (via BH3 domain)
Subcellular location : Cytoplasm. Mitochondrion outer membrane. Note=Localizes to the cytoplasm under normal conditions.Relocalizes to mitochondrion outer membrane following cellular stress. Colocalizes with BNIP3 and BNIP3L at the mitochondrion outer membrane
Sequence caution : Sequence=BAC05356.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Secondary accessions : B4E2R0 E5RLK1 Q8IY48 Q8N7D7Alternative splicing : 2 isoforms : Q8TC71-1 Q8TC71-2 Explore the universe of human proteins at neXtProt for SPATA18: NX_Q8TC71 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q8TC71 SPATA18 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_660306.1 ENSEMBL proteins: ENSP00000295213 ENSP00000415309 ENSP00000426345 ENSP00000421204 ENSP00000424695 ENSP00000424656 Human Recombinant Protein Products: Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view) : About this table
About GeneDecksing SPATA18 Antibody Products: Assay Products for SPATA18:
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Protein
Domains /for SPATA18 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q8TC71 ProtoNet protein and cluster: Q8TC71
UniProtKB/Swiss-Prot: MIEAP_HUMAN, Q8TC71 Similarity : Belongs to the MIEAP family
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Functionfor SPATA18 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: MIEAP_HUMAN, Q8TC71 Function : Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondriain response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade unhealthy mitochondria by accumulating lysosomes. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix Induction : By p53/TP53 and p63/TP63. Directly activated by p53/TP53
Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SPATA18 (NM_145263 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPATA18 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse rat SPATA18
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA18
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005515 protein binding
IPI --
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Pathways & Interactionsfor SPATA18 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPATA18 2 Interacting proteins for SPATA18 (Q8TC71 3 via UniProtKB, MINT, STRING, and/or I2D About this table Gene Ontology (GO): 4 biological process terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006974 response to DNA damage stimulus
IDA -- GO:0033554 cellular response to stress
IDA -- GO:0035694 mitochondrial protein catabolic process
IMP -- GO:0035695 mitochondrion degradation by induced vacuole formation
IMP --
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Drugs & Compoundsfor SPATA18 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for SPATA18 SPATA18 / MIEAP
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Transcriptsfor SPATA18 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for SPATA18 gene: NM_145263.2 Unigene Cluster for SPATA18:
Spermatogenesis associated 18 Hs.527090 [show with all ESTs ] Unigene Representative Sequence: BC025396 10 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000295213 (uc003gzl.3 uc011bzq.2 ) ENST00000514670 ENST00000506829 ENST00000419395 ENST00000508915 ENST00000511028 (uc003gzk.1 ) ENST00000505320 (uc010igl.1 )ENST00000503055 ENST00000505038 ENST00000510549 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SPATA18 (NM_145263 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPATA18 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse rat SPATA18
Additional cDNA sequence: AB465501.1 AB465502.1 AK057468.1 AK098625.1 AK304386.1 AK314799.1 BC025396.1 BC037886.1
6 DOTS entries : DT.108064 DT.100751068
DT.121258410 DT.95363733 DT.121258418 DT.95161390 24/71 AceView cDNA sequences (see all 71 ):
AW590387 BX112167 AW172871 AK098625 AK057468 AL042482 BG740831 AI671754 AA970452 W19692 AW193697 AA789259 BM021895 CK904113 AA621237 BI966093 BM981167 BI552073 AL705738 AI963757 BI520120 AI339078 BU625844 AW025322 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SPATA18 (see all 9 ) About this scheme ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 SP1 : - - - SP2 : - - SP3 : SP4 : - - - - SP5 : - - - - -
ECgene alternative splicing isoforms for SPATA18
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Expression for SPATA18 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section SPATA18 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TAGAGCCACC
About this image SPATA18 expression in embryonic tissues and stem cells About this table See SPATA18 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SPATA18 SOURCE GeneReport for Unigene cluster: Hs.527090 SABiosciences Custom PCR Arrays for SPATA18 Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA18
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Orthologsfor SPATA18 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for SPATA18 gene from 4/16 species (see all 16 ) About this table
ENSEMBL Gene Tree for SPATA18 (if available)TreeFam Gene Tree for SPATA18 (if available)
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Paralogsfor SPATA18 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section
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Genomic Variantsfor SPATA18 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for SPATA18 1 CNV 4395 1 Indel 60472 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor SPATA18 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 612814
OMIM disorders : --3 : About MalaCards limb-girdle muscular dystrophy type 2e limb-girdle muscular dystrophy muscular dystrophy Human Genome Epidemiology (HuGE) Navigator: SPATA18 (1 document)Export disorders for SPATA18 gene to outside databases
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Publicationsfor SPATA18 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SPATA18 gene integrated from 9 sources :(articles sorted by number of sources associating them with SPATA18) Utopia : connect your pdf to the dynamic
SPATA18, a spermatogenesis-associated gene, is a novel transcriptional target of p53 and p63. (PubMed id 21300779) 1 , 2 , 3(2011) BNIP3 and NIX mediate Mieap-induced accumulation of lysosomal proteins within mitochondria. (PubMed id 22292033) 1 , 2 (2012) Mieap, a p53-inducible protein, controls mitochondrial quality by repairing or eliminating unhealthy mitochondria. (PubMed id 21264228) 1 , 2 (2011) Possible existence of lysosome-like organella within mitochondria and its role in mitochondrial quality control. (PubMed id 21264221) 1 , 2 (2011) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 (2004) Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118) 1 (2012) Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621) 2 (2005) Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. (PubMed id 16088906) 1 (2005) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 (2002)
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External Searches for SPATA18 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SPATA18 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing SPATA18 gene
(According to HUGE )
About This Section --
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Specialized Databases showing SPATA18 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for SPATA18 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for SPATA18 gene: SPATA18 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SPATA18 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for SPATA18 OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for SPATA18 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SPATA18 OriGene 3'-UTR Clone for SPATA18 OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for SPATA18 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SPATA18 OriGene Custom Protein Services for SPATA18 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPATA18 QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
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SPATA18 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA18
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse rat SPATA18
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Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine 
Negative
Selective marker
Curated
In-situ hybridization
