MSTO1
entrez
55154
canonical
uniprot
Q9BUK6
canonical
ensembl
ENSG00000125459
resolver
ensp
ENSP00000245564
resolver
ensp
ENSP00000498188
resolver
ensp
ENSP00000513434
resolver
ensp
ENSP00000533942
resolver
ensp
ENSP00000533945
resolver
ensp
ENSP00000658565
resolver
ensp
ENSP00000658571
resolver
ensp
ENSP00000761271
resolver
enst
ENST00000649846
resolver
genesymbol
MSTO1
resolver
hgnc
HGNC:29678
resolver
uniprot
A0A3B3IUD2
resolver
uniprot
Q53GR8
resolver
uniprot
Q5CZ69
resolver
uniprot
Q5T717
resolver
uniprot
Q68CT6
resolver
uniprot
Q7LBZ8
resolver
uniprot
Q7Z3M7
resolver
uniprot
Q7Z558
resolver
uniprot
Q8TE05
resolver
uniprot
Q9NQX2
resolver
uniprot
Q9NVU4
resolver
uniprot_entry
A0A3B3IUD2_HUMAN
resolver
uniprot_entry
MSTO1_HUMAN
resolver
uniprot_sec
Q53GR8
resolver
uniprot_sec
Q5CZ69
resolver
uniprot_sec
Q5T717
resolver
uniprot_sec
Q68CT6
resolver
uniprot_sec
Q7LBZ8
resolver
uniprot_sec
Q7Z3M7
resolver
uniprot_sec
Q7Z558
resolver
uniprot_sec
Q8TE05
resolver
uniprot_sec
Q9NQX2
resolver
uniprot_sec
Q9NVU4
resolver
amino_acid_sequence
MAGGAREVLTLQLGHFAGFVGAHWWNQQDAALGRATDSKEPPGELCPDVLYRTGRTLHGQETYTPRLILMDLKGSLSSLKEEGGLYRDKQLDAAIAWQGKLTTHKEELYPKNPYLQDFLSAEGVLSSDGVWRVKSIPNGKGSSPLPTATTPKPLIPTEASIRVWSDFLRVHLHPRSICMIQKYNHDGEAGRLEAFGQGESVLKEPKYQEELEDRLHFYVEECDYLQGFQILCDLHDGFSGVGAKAAELLQDEYSGRGIITWGLLPGPYHRGEAQRNIYRLLNTAFGLVHLTAHSSLVCPLSLGGSLGLRPEPPVSFPYLHYDATLPFHCSAILATALDTVTVPYRLCSSPVSMVHLADMLSFCGKKVVTAGAIIPFPLAPGQSLPDSLMQFGGATPWTPLSACGEPSGTRCFAQSVVLRGIDRACHTSQLTPGTPPPSALHACTTGEEILAQYLQQQQPGVMSSSHLLLTPCRVAPPYPHLFSSCSPPGMVLDGSPKGAAVESIPVFGALCSSSSLHQTLEALARDLTKLDLRRWASFMDAGVEHDDVAELLQELQSLAQCYQGGDSLVD
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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|PubMed:17349998, ECO:0000269|PubMed:28544275, ECO:0000269|PubMed:28554942}.
uniprot
proteins
mass_dalton
61835
uniprot
proteins
protein_family
Misato family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17349998
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28544275
uniprot
proteins
pubmed
28554942
uniprot
proteins
sequence_length
570
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:17349998, ECO:0000269|PubMed:28554942}. Cytoplasm {ECO:0000269|PubMed:28544275, ECO:0000269|PubMed:28554942}.
uniprot
proteins