| Type | Description |
|---|---|
| Definition | misato mitochondrial distribution and morphology regulator 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-03 12:54:00 | Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy. | 30684668 |
| 2020-09-05 13:56:00 | MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. | 31463572 |
| 2018-09-01 11:28:00 | we have described two unrelated patients with biallelic MSTO1 mutations. Our report provides valuable information on the consequences of MSTO1 mutations for human phenotypes. | 29339779 |
| 2018-05-05 10:17:00 | Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia | 28544275 |
| 2018-03-17 11:51:00 | Thus, an MSTO1 loss-of-function mutation is associated with a human disorder showing mitochondrial involvement. MSTO1 likely has a physiologically relevant role in mitochondrial morphogenesis by supporting mitochondrial fusion. | 28554942 |
| Type | IDs |
|---|---|
| Synonymous | LST005, MMYAT, MST |
| Gene |
UniProtKB-ID:
MSTO1_HUMAN
UniprotKB:
Q9BUK6
UniParc:
UPI00001B4EC1,
UPI000006F52F,
UPI00015B3BD4,
UPI00001A9CC2,
UPI000050A7DC,
UPI000014155A,
UPI0000425C4C
EMBL:
AK001366,
AY334564,
AF111708,
CR749791,
BC002535,
BX537684,
CR936872,
AL353807,
AK222863,
AF272833,
AK092950
Ensembl:
ENSG00000125459
KO:
hsa:55154
|
| Nucleutide sequences |
EMBL-CDS:
AAH02535.1,
CAH18652.1,
AAM12424.1,
BAA91651.1,
BAD96583.1,
AAF81794.1,
AAP94730.1,
CAD97810.1,
CAI59784.1
Gene_ORFName:
SLTP005,
LST005
Ensembl_TRS:
ENST00000490743,
ENST00000368341,
ENST00000245564
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000357325,
ENSP00000245564,
ENSP00000476353
RefSeq:
NP_001337703.1,
NP_001337705.1,
XP_024303816.1,
NP_001337712.1,
NP_001243461.1,
XP_024303811.1,
NP_001337706.1,
NP_001337718.1,
NP_001337704.1,
XP_024303807.1,
XP_016857095.1,
XP_016857094.1,
XP_011508004.1,
XP_011508011.1,
XP_011508007.1,
NP_001337701.1,
XP_011508006.1,
NP_001337716.1,
NP_001337715.1,
XP_024303812.1,
NP_001337709.1,
NP_001337710.1,
XP_024303810.1,
NP_001337714.1,
XP_011508005.1,
XP_024303814.1,
NP_001337711.1,
XP_011508010.1,
XP_011508003.1,
NP_060586.2,
NP_001337713.1,
XP_011507997.1,
NP_001337708.1,
XP_011508009.1,
NP_001243462.1,
XP_011508002.1,
NP_001337707.1,
NP_001337702.1,
NP_001337717.1
|
| Others |
UniRef100:
UniRef100_Q9BUK6
UniRef90:
UniRef90_Q9BUK6
UniRef50:
UniRef50_Q9BUK6
UniGene:
Hs.656547
CCDS:
CCDS1114.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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