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Aliases for MSTO1 Gene

Aliases for MSTO1 Gene

  • Misato 1, Mitochondrial Distribution And Morphology Regulator 2 3 5
  • Misato Homolog 1 (Drosophila) 2
  • Protein Misato Homolog 1 3
  • Misato Homolog 1 3
  • LST005 3
  • MMYAT 3
  • MST 3

External Ids for MSTO1 Gene

Previous GeneCards Identifiers for MSTO1 Gene

  • GC01P152396
  • GC01P153846
  • GC01P155580
  • GC01P126941

Summaries for MSTO1 Gene

GeneCards Summary for MSTO1 Gene

MSTO1 (Misato 1, Mitochondrial Distribution And Morphology Regulator) is a Protein Coding gene. Diseases associated with MSTO1 include Myopathy, Mitochondrial, And Ataxia and Sinoatrial Node Disease. Gene Ontology (GO) annotations related to this gene include GTPase activity.

UniProtKB/Swiss-Prot for MSTO1 Gene

  • Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28554942, PubMed:28544275). Required for mitochondrial fusion and mitochondrial network formation (PubMed:28554942, PubMed:28544275).

Gene Wiki entry for MSTO1 Gene

Additional gene information for MSTO1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSTO1 Gene

Genomics for MSTO1 Gene

GeneHancer (GH) Regulatory Elements for MSTO1 Gene

Promoters and enhancers for MSTO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I155608 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 561 -0.3 -254 2.2 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF143 MSTO1 YY1AP1 CCT3 GON4L ASH1L MIR555 MSTO2P DCST1 GBA LOC105371452
GH01I155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 145.5 -365.9 -365928 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA KHDC4 GON4L CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01I155222 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 110.6 -384.4 -384439 5.9 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A MEF2D GBAP1 KHDC4 MSTO1 ENSG00000271267 GON4L MSTO2P CLK2 RUSC1-AS1 LOC101928120 THBS3
GH01I154998 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 44.5 -605.7 -605719 11.3 CLOCK MLX YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 ZBTB7B GON4L CLK2 UBAP2L KHDC4 ENSG00000271267 RUSC1-AS1 MSTO1 THBS3 MSTO2P
GH01I156111 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 41.8 +511.2 511219 19.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 LMNA GON4L CLK2 RRNAD1 KHDC4 LOC246784 MSTO1 MSTO2P PRCC ISG20L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MSTO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MSTO1 gene promoter:

Genomic Locations for MSTO1 Gene

Genomic Locations for MSTO1 Gene
chr1:155,610,170-155,614,967
(GRCh38/hg38)
Size:
4,798 bases
Orientation:
Plus strand
chr1:155,579,979-155,718,153
(GRCh37/hg19)

Genomic View for MSTO1 Gene

Genes around MSTO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSTO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSTO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSTO1 Gene

Proteins for MSTO1 Gene

  • Protein details for MSTO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUK6-MSTO1_HUMAN
    Recommended name:
    Protein misato homolog 1
    Protein Accession:
    Q9BUK6
    Secondary Accessions:
    • Q53GR8
    • Q5CZ69
    • Q5T717
    • Q68CT6
    • Q7LBZ8
    • Q7Z3M7
    • Q7Z558
    • Q8TE05
    • Q9NQX2
    • Q9NVU4

    Protein attributes for MSTO1 Gene

    Size:
    570 amino acids
    Molecular mass:
    61835 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM12424.1; Type=Frameshift; Positions=419; Evidence={ECO:0000305};

    Alternative splice isoforms for MSTO1 Gene

neXtProt entry for MSTO1 Gene

Post-translational modifications for MSTO1 Gene

  • Ubiquitination at isoforms=2, 3, 5, 6, 7529

No data available for DME Specific Peptides for MSTO1 Gene

Domains & Families for MSTO1 Gene

Gene Families for MSTO1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MSTO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BUK6

UniProtKB/Swiss-Prot:

MSTO1_HUMAN :
  • Belongs to the misato family.
Family:
  • Belongs to the misato family.
genes like me logo Genes that share domains with MSTO1: view

Function for MSTO1 Gene

Molecular function for MSTO1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28554942, PubMed:28544275). Required for mitochondrial fusion and mitochondrial network formation (PubMed:28554942, PubMed:28544275).

Phenotypes From GWAS Catalog for MSTO1 Gene

Gene Ontology (GO) - Molecular Function for MSTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003924 GTPase activity IEA --
genes like me logo Genes that share ontologies with MSTO1: view
genes like me logo Genes that share phenotypes with MSTO1: view

Animal Model Products

CRISPR Products

miRNA for MSTO1 Gene

miRTarBase miRNAs that target MSTO1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MSTO1 Gene

Localization for MSTO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSTO1 Gene

Mitochondrion outer membrane. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MSTO1 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MSTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA,IDA 17349998
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MSTO1: view

Pathways & Interactions for MSTO1 Gene

SuperPathways for MSTO1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MSTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IMP 17349998
GO:0048311 mitochondrion distribution IMP 17349998
genes like me logo Genes that share ontologies with MSTO1: view

No data available for Pathways by source and SIGNOR curated interactions for MSTO1 Gene

Drugs & Compounds for MSTO1 Gene

No Compound Related Data Available

Transcripts for MSTO1 Gene

Unigene Clusters for MSTO1 Gene

Misato homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MSTO1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ·
SP1: - - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - -
SP8:
SP9: - -
SP10: - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - -
SP12:
SP13: - - - - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18: - - - - - - - - - - - - - - - - -

ExUns: 14c ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d ^ 21 ^ 22 ^ 23
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - - - - - - - - - - - -
SP8:
SP9: -
SP10: -
SP11: - -
SP12:
SP13: - - - - - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for MSTO1 Gene

GeneLoc Exon Structure for
MSTO1
ECgene alternative splicing isoforms for
MSTO1

Expression for MSTO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MSTO1 Gene

Protein differential expression in normal tissues from HIPED for MSTO1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.7), Testis (14.5), and Heart (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MSTO1 Gene



Protein tissue co-expression partners for MSTO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MSTO1 Gene:

MSTO1

SOURCE GeneReport for Unigene cluster for MSTO1 Gene:

Hs.656547

mRNA Expression by UniProt/SwissProt for MSTO1 Gene:

Q9BUK6-MSTO1_HUMAN
Tissue specificity: Present in all cell lines tested (at protein level). Widely expressed.

Evidence on tissue expression from TISSUES for MSTO1 Gene

  • Nervous system(4.8)
  • Heart(4.3)
  • Liver(4.2)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with MSTO1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MSTO1 Gene

Orthologs for MSTO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MSTO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MSTO1 33 34
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia MSTO1 33 34
  • 87.66 (n)
dog
(Canis familiaris)
Mammalia MSTO1 33 34
  • 84.62 (n)
mouse
(Mus musculus)
Mammalia Msto1 33 16 34
  • 83.03 (n)
rat
(Rattus norvegicus)
Mammalia Msto1 33
  • 82.52 (n)
oppossum
(Monodelphis domestica)
Mammalia MSTO1 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSTO1 33 34
  • 59.22 (n)
lizard
(Anolis carolinensis)
Reptilia MSTO1 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msto1 33
  • 56.42 (n)
zebrafish
(Danio rerio)
Actinopterygii msto1 33 34
  • 53.37 (n)
wufi40a10 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002778 33
  • 44.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta mst 33 34
  • 42.98 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DML1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G37190 33
  • 40.57 (n)
rice
(Oryza sativa)
Liliopsida Os03g0240900 33
  • 43.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToOne
Species where no ortholog for MSTO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MSTO1 Gene

ENSEMBL:
Gene Tree for MSTO1 (if available)
TreeFam:
Gene Tree for MSTO1 (if available)

Paralogs for MSTO1 Gene

Pseudogenes.org Pseudogenes for MSTO1 Gene

genes like me logo Genes that share paralogs with MSTO1: view

No data available for Paralogs for MSTO1 Gene

Variants for MSTO1 Gene

Sequence variations from dbSNP and Humsavar for MSTO1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs622288 pathogenic, MYOPATHY, MITOCHONDRIAL, AND ATAXIA, Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675] 155,612,848(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs749922789 pathogenic, MYOPATHY, MITOCHONDRIAL, AND ATAXIA, Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675] 155,612,910(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs762798018 pathogenic, MYOPATHY, MITOCHONDRIAL, AND ATAXIA, Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675] 155,610,270(+) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs771965165 pathogenic, MYOPATHY, MITOCHONDRIAL, AND ATAXIA 155,612,571(+) G/A intron_variant, splice_donor_variant
VAR_079891 Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675] p.Phe376Leu

Structural Variations from Database of Genomic Variants (DGV) for MSTO1 Gene

Variant ID Type Subtype PubMed ID
esv2718418 CNV deletion 23290073
esv33869 CNV loss 17666407
esv3890671 CNV gain 25118596
nsv3043 CNV deletion 18451855
nsv428246 CNV gain 18775914
nsv436522 CNV deletion 17901297
nsv482134 CNV gain 20164927
nsv547965 CNV gain 21841781
nsv946419 CNV duplication 23825009

Variation tolerance for MSTO1 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.25; 88.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MSTO1 Gene

Human Gene Mutation Database (HGMD)
MSTO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSTO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSTO1 Gene

Disorders for MSTO1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MSTO1 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, mitochondrial, and ataxia
  • mmyat
sinoatrial node disease
  • sa node
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards
Search MSTO1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MSTO1_HUMAN
  • Myopathy, mitochondrial, and ataxia (MMYAT) [MIM:617675]: A neuromuscular disorder characterized by muscle weakness and atrophy, ataxia, poor growth, delayed motor development, dysdiadochokinesia, dysmetria and additional neurologic features. Some patients show skeletal and endocrine anomalies, as well as behavioral psychiatric manifestations. MMYAT transmission pattern is consistent with autosomal dominant inheritance in some families, and autosomal recessive inheritance in others. {ECO:0000269 PubMed:28544275, ECO:0000269 PubMed:28554942}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MSTO1

genes like me logo Genes that share disorders with MSTO1: view

No data available for Genatlas for MSTO1 Gene

Publications for MSTO1 Gene

  1. Human Misato regulates mitochondrial distribution and morphology. (PMID: 17349998) Kimura M … Okano Y (Experimental cell research 2007) 2 3 4 58
  2. An anthropoid-specific segmental duplication on human chromosome 1q22. (PMID: 16545939) Kuryshev VY … Wiemann S (Genomics 2006) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. (PMID: 28554942) Gal A … Hajnóczky G (EMBO molecular medicine 2017) 4 58

Products for MSTO1 Gene

Sources for MSTO1 Gene

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