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This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
MYOT (Myotilin) is a Protein Coding gene. Diseases associated with MYOT include Myopathy, Myofibrillar, 3 and Myopathy, Spheroid Body. Gene Ontology (GO) annotations related to this gene include actin binding and alpha-actinin binding. An important paralog of this gene is PALLD.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 11038172 |
GO:0008046 | axon guidance receptor activity | IBA | 21873635 |
GO:0008307 | structural constituent of muscle | TAS | 10958653 |
GO:0051393 | alpha-actinin binding | IDA | 10958653 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0015629 | actin cytoskeleton | TAS | 10369880 |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006936 | muscle contraction | TAS | 10958653 |
GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IBA | 21873635 |
GO:0007411 | axon guidance | IEA | -- |
GO:0050808 | synapse organization | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP8: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYOT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYOT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYOT 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Myot 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Myot 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MYOT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MYOT 30 |
|
||
TITIN 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | MYOT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | myot 30 |
|
||
Str.3561 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.18672 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100329862 30 |
|
||
MYOT 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4426 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641132 | Uncertain Significance: Myofibrillar myopathy 3 | 137,882,073(+) | G/C | MISSENSE_VARIANT | |
650010 | Uncertain Significance: Myofibrillar myopathy 3 | 137,886,162(+) | T/C | MISSENSE_VARIANT | |
655808 | Uncertain Significance: Myofibrillar myopathy 3 | 137,875,864(+) | C/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
657395 | Uncertain Significance: Myofibrillar myopathy 3 | 137,886,182(+) | G/A | MISSENSE_VARIANT | |
657688 | Uncertain Significance: Myofibrillar myopathy 3 | 137,870,737(+) | C/T | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3606912 | CNV | gain | 21293372 |
esv3606913 | CNV | gain | 21293372 |
nsv830501 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, myofibrillar, 3 |
|
|
myopathy, spheroid body |
|
|
myofibrillar myopathy |
|
|
limb-girdle muscular dystrophy |
|
|
muscular dystrophy, limb-girdle, autosomal recessive 2 |
|