| Type | Description |
|---|---|
| Definition | myotubularin 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-15 10:20:00 | MTM1 mutation is related to myopathy | 31541013 |
| 2019-06-29 11:25:00 | Three novel mutations in the second cluster of PTP domain in MTM1 were identified in 3 patients with X-linked myotubular myopathy. | 30884204 |
| 2019-04-13 11:24:00 | our data highlight a safeguarding function of the MTM1-UBQLN2 complex that ensures cytoskeletal integrity to avoid proteotoxic aggregate formation | 29358706 |
| 2019-01-05 10:11:00 | This study found in the centronuclear myopathies have mutation in MTM1. | 30232666 |
| 2018-12-22 12:12:00 | Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. | 30047259 |
| Type | IDs |
|---|---|
| Synonymous | CNM, MTMX, XLMTM |
| Gene |
UniProtKB-ID:
MTM1_HUMAN,
A0A024RC06_HUMAN
UniprotKB:
Q13496,
A0A024RC06
UniParc:
UPI000012F7F5,
UPI000191500E
EMBL:
AF020676,
AF020675,
AF002223,
AF020673,
AF020664,
AF020672,
AF020666,
AF020674,
BC030779,
AF020669,
CH471169,
AF020670,
AF020665,
AF020668,
AF020671,
AK297021,
U46024,
AC109994,
AF020667
Ensembl:
ENSG00000171100
KO:
hsa:4534
|
| Nucleutide sequences |
EMBL-CDS:
EAW99377.1,
BAH12477.1,
AAC12865.1,
AAC51682.1,
AAH30779.1,
EAW99378.1
Gene_ORFName:
hCG_39236
Ensembl_TRS:
ENST00000370396
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359423
RefSeq:
XP_011529473.1,
NP_001363836.1,
XP_016885040.1,
XP_011529474.1,
NP_001363837.1,
XP_016885037.1,
XP_016885036.1,
NP_000243.1,
XP_005274744.1,
NP_001363835.1
|
| Others |
UniRef100:
UniRef100_Q13496
UniRef90:
UniRef90_Q13496
UniRef50:
UniRef50_Q13496
UniGene:
Hs.655056
CCDS:
CCDS14694.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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