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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Inborn mitochondrial myopathy Likely pathogenic; Pathogenic rs753488873 RCV004577353
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15495192
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 26022158
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 15495192
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 37849306 Associate
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia Pubtator 28554942 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 28544275, 28554942, 31604776 Associate
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Borderline personality disorder BEFREE 28767012
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 25307264
★☆☆☆☆
Found in Text Mining only