Gene Gene information from NCBI Gene database.
Entrez ID 55154
Gene name Misato mitochondrial distribution and morphology regulator 1
Gene symbol MSTO1
Synonyms (NCBI Gene)
LST005MMYATMST
Chromosome 1
Chromosome location 1q22
miRNA miRNA information provided by mirtarbase database.
238
miRTarBase ID miRNA Experiments Reference
MIRT047477 hsa-miR-10b-5p CLASH 23622248
MIRT042347 hsa-miR-484 CLASH 23622248
MIRT039736 hsa-miR-615-3p CLASH 23622248
MIRT1161954 hsa-miR-106a CLIP-seq
MIRT1161955 hsa-miR-106b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617619 29678 ENSG00000125459
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BUK6
Protein name Protein misato homolog 1
Protein function Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28544275, PubMed:28554942). Required for mitochondrial fusion and mitochondrial network formation (PubMed:28544275, PubMed:28554942). {ECO:0000269|P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10644 Misat_Tub_SegII 6 120 Misato Segment II tubulin-like domain Domain
PF14881 Tubulin_3 153 346 Tubulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Present in all cell lines tested (at protein level). Widely expressed. {ECO:0000269|PubMed:17349998}.
Sequence
MAGGAREVLTLQLGHFAGFVGAHWWNQQDAALGRATDSKEPPGELCPDVLYRTGRTLHGQ
ETYTPRLILMDLKGSLSSLKEEGGLYRDKQLDAAIAWQGKLTTHKEELYPKNPYLQDFLS

AEGVLSSDGVWRVKSIPNGKGSSPLPTATTPKPLIPTEASIRVWSDFLRVHLHPRSICMI
QKYNHDGEAGRLEAFGQGESVLKEPKYQEELEDRLHFYVEECDYLQGFQILCDLHDGFSG
VGAKAAELLQDEYSGRGIITWGLLPGPYHRGEAQRNIYRLLNTAFGLVHLTAHSSLVCPL
SLGGSLGLRPEPPVSFPYLHYDATLPFHCSAILATALDTVTVPYRL
CSSPVSMVHLADML
SFCGKKVVTAGAIIPFPLAPGQSLPDSLMQFGGATPWTPLSACGEPSGTRCFAQSVVLRG
IDRACHTSQLTPGTPPPSALHACTTGEEILAQYLQQQQPGVMSSSHLLLTPCRVAPPYPH
LFSSCSPPGMVLDGSPKGAAVESIPVFGALCSSSSLHQTLEALARDLTKLDLRRWASFMD
AGVEHDDVAELLQELQSLAQCYQGGDSLVD
Sequence length 570
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
55
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inborn mitochondrial myopathy Likely pathogenic; Pathogenic rs753488873 RCV004577353
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Likely pathogenic; Pathogenic rs749922789, rs1553295536, rs771965165, rs1248439783, rs1208636573, rs563943670, rs753488873, rs752022363, rs745944305, rs1673545403 RCV000505818
RCV000505815
RCV000505819
RCV000768552
RCV000626042
RCV000768553
RCV001254689
RCV001330817
RCV001269342
RCV001269343
See cases Likely pathogenic; Pathogenic rs1235749181, rs752022363 RCV002468657
RCV002252353
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital cerebellar hypoplasia Conflicting classifications of pathogenicity rs764871960 RCV005626633
MSTO1-related disorder Likely benign; Uncertain significance; Benign rs112951003, rs140753725, rs423975, rs1319550733, rs1674307094, rs2525426008, rs145633919, rs1401119828, rs533664518 RCV004536614
RCV004536485
RCV004536501
RCV004536532
RCV004528636
RCV004531814
RCV004542395
RCV004545523
RCV004530928
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 37849306
Anhedonia Associate 28554942
Ataxia Associate 28544275, 28554942, 31604776
Breast Neoplasms Associate 40312366
Cerebellar Ataxia Associate 28544275, 31463572
Cerebellar Diseases Associate 31463572
Deglutition Disorders Associate 31604776
Developmental Disabilities Associate 31604776
Distal myopathy Nonaka type Associate 31604776
Fatigue Associate 23047795