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This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]
MYO9A (Myosin IXA) is a Protein Coding gene. Diseases associated with MYO9A include Myasthenic Syndrome, Congenital, 24, Presynaptic and Presynaptic Congenital Myasthenic Syndromes. Among its related pathways are Signaling by GPCR and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include actin binding and motor activity. An important paralog of this gene is MYO9B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003774 | motor activity | IEA | -- |
GO:0003779 | actin binding | IEA | -- |
GO:0005096 | GTPase activator activity | IEA | -- |
GO:0005515 | protein binding | IPI | 15644318 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016459 | myosin complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
2 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation by ARP-WASP Complex
.66
|
RhoA Pathway
.35
|
3 | RhoGDI Pathway |
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
|
RhoGDI Pathway
.33
|
4 | Sweet Taste Signaling |
Cellular Effects of Sildenafil
.46
|
|
5 | Sertoli-Sertoli Cell Junction Dynamics |
Epithelial Tight Junctions
.36
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007601 | visual perception | TAS | 10409426 |
GO:0034329 | cell junction assembly | IMP | 22891260 |
GO:0035556 | intracellular signal transduction | IEA | -- |
GO:0043547 | positive regulation of GTPase activity | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Diglycerides Group B |
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Diglycerides Group C |
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Diglycerides Group D |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYO9A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYO9A 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MYO9A 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC515330 30 |
|
||
MYO9A 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Myo9a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Myo9a 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MYO9A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MYO9A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MYO9A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | myo9a 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | myo9aa 30 31 |
|
OneToMany | |
myo9ab 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | hum-7 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
590980 | Pathogenic: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC | 71,897,953(-) | C/T | MISSENSE_VARIANT | |
590982 | Pathogenic: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC | 71,893,728(-) | T/C | MISSENSE_VARIANT | |
707935 | Likely Benign: not provided | 71,893,717(-) | A/G | MISSENSE_VARIANT | |
708237 | Benign: not provided | 71,967,981(-) | G/T | INTRON_VARIANT | |
709912 | Benign: not provided | 71,899,958(-) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myasthenic syndrome, congenital, 24, presynaptic |
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presynaptic congenital myasthenic syndromes |
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congenital myasthenic syndrome |
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bardet-biedl syndrome |
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myopathy, myofibrillar, 8 |
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