Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55154
Gene name Gene Name - the full gene name approved by the HGNC.
Misato mitochondrial distribution and morphology regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MSTO1
Synonyms (NCBI Gene) Gene synonyms aliases
LST005, MMYAT, MST
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q22
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617619 29678 ENSG00000125459
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome rs749922789, rs1553295536, rs771965165, rs1248439783, rs1208636573, rs563943670 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Associations from Text Mining Disease 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